### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TP63) # 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}}" "TP63" "tumor protein p63" "3" "q27-q29" "unknown" "NG_007550.1" "UD_132085233839" "" "https://www.LOVD.nl/TP63" "ARVD/C Genetic Variants Database " "1" "15979" "8626" "603273" "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/TP63_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2009-02-25 00:00:00" "00006" "2018-12-23 11:59:15" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00021671" "TP63" "transcript variant 1" "001" "NM_003722.4" "" "NP_003713.3" "" "" "" "-89" "4820" "2043" "189349216" "189615068" "" "0000-00-00 00:00:00" "" "" "00025349" "TP63" "transcript variant 3" "007" "NM_001114979.1" "" "NP_001108451.1" "" "" "" "-89" "2781" "1464" "189349216" "189599284" "00006" "2018-12-14 16:38:22" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00586" "EEC3" "ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome, type 3 (EEC-3)" "AD" "604292" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00587" "SHFM4" "split-hand/foot malformation, type 4 (SHFM-4)" "AD" "605289" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00588" "AEC;HayWells" "ankyloblepharon-ectodermal defects-cleft lip/palate (AEC, Hay-Wells syndrome)" "AD" "106260" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00589" "ADULT" "ADULT syndrome (ADULT)" "AD" "103285" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00590" "LMS" "Limb-mammary syndrome (LMS)" "AD" "603543" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00591" "RHS" "Rapp-Hodgkin syndrome (RHS)" "AD" "129400" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" "" "04254" "CLP" "cleft lip, cleft palate (CLP)" "" "" "" "" "" "00006" "2015-05-08 09:59:28" "00006" "2015-05-08 10:00:15" "05517" "skeletal dysplasia" "dysplasia, skeletal" "" "" "" "" "" "00006" "2018-11-16 16:43:21" "" "" "05538" "EEC" "ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome (EEC)" "" "" "" "" "" "00006" "2018-12-23 11:13:45" "" "" "05539" "OFC8" "orofacial cleft, type 8 (OFC-8)" "" "618149" "" "" "" "00006" "2018-12-23 11:19:59" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{geneid}}" "{{diseaseid}}" "TP63" "00586" "TP63" "00587" "TP63" "00588" "TP63" "00589" "TP63" "00590" "TP63" "00591" "TP63" "05538" "TP63" "05539" ## Individuals ## Do not remove or alter this header ## ## Count = 29 "{{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}}" "00100191" "" "" "" "3" "" "01744" "{PMID:Sun 2016:27984602}" "3-generation family, affected proband, father and uncle" "M" "" "(China)" "" "0" "" "" "" "" "00165198" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00208593" "" "" "" "7" "" "03130" "" "Khandelwal et al., manuscript submitted" "-" "no" "Netherlands" "" "0" "" "" "" "IV:3" "00208594" "" "" "" "9" "" "03130" "" "Khandelwal et al., manuscript submitted" "-" "no" "Netherlands" "" "0" "" "" "" "II.5" "00208598" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "F" "-" "Denmark" "" "0" "" "" "" "II.2" "00208628" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "no" "" "" "0" "" "" "" "" "00208629" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208633" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208754" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208769" "" "" "" "1" "" "03130" "" "Khandelwal et al. Manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208770" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208771" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208772" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208773" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208774" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00208775" "" "" "" "1" "" "03130" "" "Khandelwal et al., manuscript submitted" "?" "?" "" "" "0" "" "" "" "" "00209047" "" "" "" "1" "" "00802" "{PMID:Valenzise 2008:18603493}" "Syndromal ARVD/C with ectodermal dysplasia" "" "" "" "" "0" "" "" "" "" "00209048" "" "" "" "1" "" "03134" "{PMID:Monti 2013:23463580}, {DOI:Monti 2013:10.1002/humu.22304}" "" "" "" "" "" "0" "" "" "" "" "00209049" "" "" "" "1" "" "03134" "{PMID:Monti 2013:23463580}, {DOI:Monti 2013:10.1002/humu.22304}" "" "" "" "" "" "0" "" "" "" "" "00230997" "" "" "" "1" "" "01962" "" "" "M" "no" "Japan" "" "0" "" "" "" "27-II-1" "00230998" "" "" "" "1" "" "01962" "" "" "M" "no" "Japan" "" "0" "" "" "" "28-II-1" "00230999" "" "" "" "2" "" "01962" "" "" "M" "no" "Japan" "" "0" "" "" "" "29-II-1" "00235303" "" "" "00230999" "1" "" "01962" "" "" "M" "no" "Japan" "" "0" "" "" "" "29-II-2" "00286186" "" "" "" "1" "" "01741" "" "" "" "" "" "" "0" "" "" "" "" "00293296" "" "" "" "85" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304942" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00331584" "" "" "" "1" "" "00000" "{PMID:Maddirevula 2018:29620724}" "isolated case" "M" "yes" "" "" "0" "" "" "Arab" "17DG0811" "00419625" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20039" "00427664" "" "" "" "1" "" "04433" "" "" "F" "" "" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 28 "{{individualid}}" "{{diseaseid}}" "00100191" "04227" "00208593" "04254" "00208594" "04254" "00208598" "04254" "00208628" "04254" "00208629" "04254" "00208633" "04254" "00208754" "04254" "00208769" "04254" "00208770" "04254" "00208771" "04254" "00208772" "00000" "00208773" "00000" "00208774" "00000" "00208775" "00000" "00209047" "00198" "00209048" "00589" "00209049" "05538" "00230997" "00587" "00230998" "00587" "00230999" "00587" "00235303" "00587" "00286186" "00587" "00293296" "00198" "00304942" "00198" "00331584" "05517" "00419625" "00198" "00427664" "05538" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00586, 00587, 00588, 00589, 00590, 00591, 04227, 04254, 05517, 05538, 05539 ## Count = 19 "{{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}}" "0000078452" "04227" "00100191" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000157231" "04254" "00208593" "03130" "Familial, autosomal dominant" "" "minor anomalies in some affected patients in this family:\r\nhypodontia, dry skin, duplicated thumb" "" "" "congenital" "" "" "" "" "" "" "" "" "0000157232" "04254" "00208594" "03130" "Familial" "" "other features in affected family members: hyperkeratosis, hypoplastic nails, choanal atresia, coarse hair" "" "" "congenital" "" "" "" "" "" "" "" "" "0000157233" "04254" "00208598" "03130" "Isolated (sporadic)" "" "other features: Lichen sclerosis." "" "" "congenital" "" "" "" "" "" "" "" "" "0000157251" "04254" "00208633" "03130" "Unknown" "" "bilateral CLP" "" "" "" "" "" "" "" "" "" "" "" "0000157372" "04254" "00208754" "03130" "-" "" "unilateral CLP" "" "" "" "" "" "" "" "" "" "" "" "0000157387" "04254" "00208769" "03130" "Unknown" "" "Cleft lip, alveolus cleft, split velum and uvula" "" "" "" "" "" "" "" "" "" "" "" "0000157388" "04254" "00208770" "03130" "Familial" "" "unilateral cleft lip" "" "" "" "" "" "" "" "" "" "" "" "0000157389" "04254" "00208771" "03130" "Unknown" "" "cleft lip/palate (CLP)" "" "" "" "" "" "" "" "" "" "" "" "0000157653" "00198" "00209047" "00802" "-" "" "ARVD/C, TFC+" "" "" "" "" "" "" "" "" "" "ectodermal dysplasia associated, arrhythmogenic right ventricular cardiomyopathy" "" "0000157654" "00589" "00209048" "03134" "-" "" "" "" "" "" "" "" "" "" "" "ADULT" "ADULT syndrome" "" "0000157655" "05538" "00209049" "03134" "-" "" "" "" "" "" "" "" "" "" "" "EEC-3" "ectrodactyly, ectodermal dysplasia, cleft lip/palate syndrome" "" "0000173480" "00587" "00230997" "01962" "Isolated (sporadic)" "" "split hand, split foot, syndactyly" "" "" "" "" "" "" "" "" "" "" "" "0000173481" "00587" "00230998" "01962" "Familial" "" "Split hand, Split foot" "" "" "" "" "" "" "" "" "" "" "" "0000173482" "00587" "00230999" "01962" "Familial" "" "split hand" "" "" "" "" "" "" "" "" "" "" "" "0000175567" "00198" "00235303" "01962" "Familial" "" "split hand" "" "" "" "" "" "" "" "" "split-hand/foot malformation" "split-hand/foot malformation" "" "0000249776" "05517" "00331584" "00000" "Familial, autosomal dominant" "" "Polysyndactyly, Median cleft lip and palate, Abnormal facial shape, Triangular face,AbnormNo" "" "" "" "" "" "" "" "" "Ectrodactyly with/without other manifestations" "skeletal dysplasia" "" "0000310906" "00198" "00419625" "02300" "Isolated (sporadic)" "3y" "" "" "" "" "" "" "" "" "" "" "skeletal and/or connective tissue abnormality" "" "0000318679" "05538" "00427664" "04433" "Isolated (sporadic)" "" "ectrodactyly (feet), cleft lip/palate, colloid skin," "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 29 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000100595" "00100191" "1" "01744" "01744" "2017-02-03 09:56:10" "" "" "SEQ;SEQ-NG-R" "DNA" "blood" "" "0000166076" "00165198" "1" "01741" "01741" "2018-06-29 12:34:17" "" "" "SEQ" "DNA" "" "" "0000209642" "00208593" "1" "03130" "03130" "2018-12-11 13:36:19" "" "" "arrayCGH" "DNA" "blood" "" "0000209643" "00208594" "1" "03130" "03130" "2018-12-11 15:58:52" "" "" "arrayCGH" "DNA" "blood" "" "0000209647" "00208598" "1" "03130" "03130" "2018-12-11 16:52:20" "" "" "arrayCGH" "DNA" "blood" "" "0000209677" "00208628" "1" "03130" "03130" "2018-12-12 17:10:50" "" "" "SEQ" "DNA" "" "" "0000209678" "00208629" "1" "03130" "03130" "2018-12-12 17:44:09" "" "" "SEQ" "DNA" "" "" "0000209682" "00208633" "1" "03130" "03130" "2018-12-12 17:55:33" "" "" "SEQ" "DNA" "" "" "0000209803" "00208754" "1" "03130" "03130" "2018-12-14 13:17:07" "" "" "SEQ" "DNA" "" "" "0000209818" "00208769" "1" "03130" "03130" "2018-12-14 15:03:54" "" "" "SEQ" "DNA" "" "" "0000209819" "00208770" "1" "03130" "03130" "2018-12-14 15:11:20" "" "" "SEQ" "DNA" "" "" "0000209820" "00208771" "1" "03130" "03130" "2018-12-14 15:41:48" "" "" "SEQ" "DNA" "" "" "0000209821" "00208772" "1" "03130" "03130" "2018-12-14 15:56:02" "" "" "SEQ" "DNA" "" "" "0000209822" "00208773" "1" "03130" "03130" "2018-12-14 16:03:07" "" "" "SEQ" "DNA" "" "" "0000209823" "00208774" "1" "03130" "03130" "2018-12-14 16:09:28" "" "" "SEQ" "DNA" "" "" "0000209824" "00208775" "1" "03130" "03130" "2018-12-14 16:14:41" "" "" "SEQ" "DNA" "" "" "0000210104" "00209047" "1" "00802" "00802" "2009-02-25 11:30:24" "00802" "2010-01-05 08:59:51" "SEQ" "DNA" "" "" "0000210105" "00209048" "1" "03134" "00802" "2013-03-06 11:32:25" "" "" "SEQ" "DNA" "" "" "0000210106" "00209049" "1" "03134" "00802" "2013-03-06 11:39:17" "" "" "SEQ" "DNA" "" "" "0000232093" "00230997" "1" "01962" "01962" "2019-04-22 16:54:39" "" "" "SEQ-NG" "DNA" "" "" "0000232094" "00230998" "1" "01962" "01962" "2019-04-22 17:14:32" "" "" "SEQ-NG" "DNA" "" "" "0000232095" "00230999" "1" "01962" "01962" "2019-04-22 17:24:07" "" "" "SEQ-NG" "DNA" "" "" "0000236407" "00235303" "1" "01962" "01962" "2019-05-18 00:29:41" "" "" "SEQ-NG" "DNA" "" "WES" "0000287348" "00286186" "1" "01741" "01741" "2020-02-10 10:17:18" "" "" "SEQ" "DNA" "" "" "0000294464" "00293296" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306071" "00304942" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000332803" "00331584" "1" "00000" "00006" "2021-02-11 15:29:38" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000420929" "00419625" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000428985" "00427664" "1" "04433" "04433" "2022-12-09 12:09:21" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000100595" "HDAC4" "0000100595" "TRPS1" "0000166076" "TP63" "0000209677" "TP63" "0000209678" "TP63" "0000209682" "TP63" "0000209803" "TP63" "0000209818" "TP63" "0000209819" "TP63" "0000209820" "TP63" "0000209821" "TP63" "0000209822" "TP63" "0000209823" "TP63" "0000209824" "TP63" "0000210104" "TP63" "0000210105" "TP63" "0000210106" "TP63" "0000232093" "TP63" "0000232094" "TP63" "0000232095" "TP63" "0000287348" "TP63" "0000332803" "TP63" "0000428985" "TP63" ## 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 = 155 "{{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}}" "0000168990" "1" "50" "3" "189455549" "189455549" "subst" "0" "00006" "TP63_000059" "g.189455549A>G" "" "{PMID:Sun 2016:27984602}" "" "" "" "Germline" "" "" "0" "" "" "g.189737760A>G" "" "VUS" "" "0000251303" "0" "10" "3" "189585483" "189585483" "subst" "0" "02326" "TP63_000064" "g.189585483A>G" "" "" "" "TP63(NM_003722.5):c.883-139A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189867694A>G" "" "benign" "" "0000251304" "0" "10" "3" "189587274" "189587274" "subst" "0" "02326" "TP63_000018" "g.189587274A>G" "" "" "" "TP63(NM_003722.5):c.1212+79A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189869485A>G" "" "benign" "" "0000252073" "0" "30" "3" "189607287" "189607287" "subst" "0.0115984" "02326" "TP63_000068" "g.189607287A>C" "" "" "" "TP63(NM_003722.5):c.1652+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889498A>C" "" "likely benign" "" "0000311983" "0" "90" "3" "189507620" "189507620" "subst" "0" "02325" "TP63_000061" "g.189507620C>T" "" "" "" "TP63(NM_001114980.2):c.31C>T (p.Q11*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189789831C>T" "" "pathogenic" "" "0000314778" "0" "10" "3" "189590824" "189590824" "subst" "0.486215" "02326" "TP63_000019" "g.189590824G>C" "" "" "" "TP63(NM_003722.5):c.1349+40G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189873035G>C" "" "benign" "" "0000314779" "0" "10" "3" "189604160" "189604160" "subst" "0.710275" "02326" "TP63_000023" "g.189604160T>C" "" "" "" "TP63(NM_003722.5):c.1350-23T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189886371T>C" "" "benign" "" "0000314780" "0" "10" "3" "189604149" "189604149" "subst" "0.709912" "02326" "TP63_000022" "g.189604149T>G" "" "" "" "TP63(NM_003722.5):c.1350-34T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189886360T>G" "" "benign" "" "0000314781" "0" "10" "3" "189607220" "189607220" "subst" "0.000199336" "02326" "TP63_000067" "g.189607220C>T" "" "" "" "TP63(NM_003722.5):c.1599C>T (p.S533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889431C>T" "" "benign" "" "0000314782" "0" "10" "3" "189607319" "189607319" "subst" "0.0324289" "02326" "TP63_000026" "g.189607319G>A" "" "" "" "TP63(NM_003722.5):c.1652+46G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889530G>A" "" "benign" "" "0000314783" "0" "10" "3" "189455681" "189455681" "subst" "0.0380175" "02326" "TP63_000002" "g.189455681T>C" "" "" "" "TP63(NM_003722.5):c.191+24T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189737892T>C" "" "benign" "" "0000314784" "0" "10" "3" "189525985" "189525985" "subst" "0" "02326" "TP63_000062" "g.189525985C>A" "" "" "" "TP63(NM_003722.5):c.325-76C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189808196C>A" "" "benign" "" "0000314785" "0" "10" "3" "189561974" "189561974" "del" "0" "02326" "TP63_000063" "g.189561974del" "" "" "" "TP63(NM_003722.5):c.580-20047delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189844185del" "" "benign" "" "0000329760" "0" "50" "3" "189607146" "189607146" "subst" "0" "01804" "TP63_000065" "g.189607146C>T" "" "" "" "TP63(NM_003722.4):c.1525C>T (p.(His509Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889357C>T" "" "VUS" "" "0000329761" "0" "30" "3" "189607152" "189607152" "subst" "0.0030963" "01804" "TP63_000066" "g.189607152C>A" "" "" "" "TP63(NM_001114978.1):c.1531C>A (p.(Pro511Thr)), TP63(NM_001329964.1):c.1525C>A (p.P509T), TP63(NM_003722.5):c.1531C>A (p.P511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889363C>A" "" "likely benign" "" "0000337407" "0" "10" "3" "189607287" "189607287" "subst" "0.0115984" "02327" "TP63_000068" "g.189607287A>C" "" "" "" "TP63(NM_003722.5):c.1652+14A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889498A>C" "" "benign" "" "0000339025" "0" "70" "3" "189586389" "189586389" "subst" "0" "02327" "TP63_000080" "g.189586389G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868600G>A" "" "likely pathogenic" "" "0000341391" "0" "70" "3" "189586437" "189586437" "subst" "0" "02327" "TP63_000037" "g.189586437C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868648C>A" "" "likely pathogenic" "" "0000342389" "0" "90" "3" "189582169" "189582169" "subst" "0" "02327" "TP63_000073" "g.189582169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189864380G>A" "" "pathogenic" "" "0000342390" "0" "90" "3" "189582168" "189582168" "subst" "0" "02327" "TP63_000072" "g.189582168C>T" "" "" "" "TP63(NM_001329964.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189864379C>T" "" "pathogenic" "" "0000342623" "0" "90" "3" "189585691" "189585691" "subst" "0" "02327" "TP63_000076" "g.189585691C>T" "" "" "" "TP63(NM_003722.5):c.952C>T (p.R318C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189867902C>T" "" "pathogenic" "" "0000342624" "0" "90" "3" "189585692" "189585692" "subst" "0" "02327" "TP63_000077" "g.189585692G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189867903G>A" "" "pathogenic" "" "0000342626" "0" "90" "3" "189585694" "189585694" "subst" "0" "02327" "TP63_000078" "g.189585694C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189867905C>T" "" "pathogenic" "" "0000342627" "0" "90" "3" "189585695" "189585695" "subst" "0" "02327" "TP63_000079" "g.189585695G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189867906G>A" "" "pathogenic" "" "0000342669" "0" "90" "3" "189586386" "189586386" "subst" "0" "02327" "TP63_000013" "g.189586386G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868597G>A" "" "pathogenic" "" "0000342687" "0" "90" "3" "189586403" "189586403" "subst" "0" "02327" "TP63_000081" "g.189586403C>T" "" "" "" "TP63(NM_003722.5):c.1027C>T (p.R343W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868614C>T" "" "pathogenic" "" "0000343377" "0" "30" "3" "189349323" "189349323" "subst" "1.21986E-5" "02327" "TP63_000069" "g.189349323C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189631534C>T" "" "likely benign" "" "0000343703" "0" "70" "3" "189585665" "189585665" "subst" "0" "02327" "TP63_000075" "g.189585665A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189867876A>G" "" "likely pathogenic" "" "0000344366" "0" "90" "3" "189586409" "189586409" "subst" "0" "02327" "TP63_000082" "g.189586409T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868620T>C" "" "pathogenic" "" "0000344368" "0" "90" "3" "189586416" "189586416" "subst" "0" "02327" "TP63_000083" "g.189586416G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868627G>A" "" "pathogenic" "" "0000345660" "0" "90" "3" "189526079" "189526079" "subst" "0" "02327" "TP63_000070" "g.189526079G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189808290G>T" "" "pathogenic" "" "0000345792" "0" "90" "3" "189526254" "189526254" "subst" "0" "02327" "TP63_000033" "g.189526254G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189808465G>T" "" "pathogenic" "" "0000346165" "0" "90" "3" "189608631" "189608631" "subst" "0" "02327" "TP63_000040" "g.189608631G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189890842G>T" "" "pathogenic" "" "0000346426" "0" "70" "3" "189582181" "189582181" "subst" "0" "02327" "TP63_000074" "g.189582181A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189864392A>C" "" "likely pathogenic" "" "0000346762" "0" "90" "3" "189607267" "189607267" "subst" "0" "02327" "TP63_000038" "g.189607267T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189889478T>C" "" "pathogenic" "" "0000346774" "0" "70" "3" "189612038" "189612038" "subst" "0" "02327" "TP63_000043" "g.189612038T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189894249T>G" "" "likely pathogenic" "" "0000347071" "0" "10" "3" "189584563" "189584563" "subst" "0.0164723" "02327" "TP63_000010" "g.189584563C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189866774C>T" "" "benign" "" "0000347221" "0" "90" "3" "189608583" "189608583" "subst" "0" "02327" "TP63_000039" "g.189608583T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189890794T>C" "" "pathogenic" "" "0000348395" "0" "90" "3" "189586418" "189586418" "subst" "0" "02327" "TP63_000035" "g.189586418C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868629C>G" "" "pathogenic" "" "0000348396" "0" "90" "3" "189586418" "189586418" "subst" "0" "02327" "TP63_000036" "g.189586418C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189868629C>T" "" "pathogenic" "" "0000349104" "0" "90" "3" "189608664" "189608664" "subst" "4.06375E-6" "02327" "TP63_000041" "g.189608664C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189890875C>T" "" "pathogenic" "" "0000349105" "0" "90" "3" "189608664" "189608664" "subst" "0" "02327" "TP63_000042" "g.189608664C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189890875C>A" "" "pathogenic" "" "0000349994" "0" "90" "3" "189582133" "189582133" "subst" "0" "02327" "TP63_000071" "g.189582133A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.189864344A>G" "" "pathogenic" "" "0000369939" "0" "90" "3" "189607153" "189607153" "dup" "0" "01741" "TP63_000044" "g.189607153dup" "" "" "" "1532dupC" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189889364dup" "" "pathogenic" "" "0000439803" "0" "90" "3" "189349304" "189600744" "del" "0" "03130" "TP63_000058" "g.(?_189349304)_(189600744_?)del" "" "Khandelwal et al., manuscript submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000439807" "0" "90" "3" "189611193" "189615068" "del" "0" "03130" "TP63_000047" "g.(189608672_189611193)_(189615068_190139080)del" "" "Khandelwal et al., manuscript submitted" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000439808" "0" "90" "3" "189349304" "189526316" "del" "0" "03130" "TP63_000048" "g.(188700996_189349304)_(189526316_189580682)del" "" "Khandelwal et al., manuscript submitted" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000439892" "11" "90" "3" "189526305" "189526312" "del" "0" "03130" "TP63_000049" "g.189526305_189526312del" "" "Khandelwal et al., manuscript submitted" "" "" "inherited from healthy father; reduced penetrance" "Germline" "-" "" "0" "" "" "g.189808516_189808523del" "" "pathogenic" "ACMG" "0000439897" "11" "50" "3" "189582111" "189582111" "subst" "4.06537E-6" "03130" "TP63_000046" "g.189582111G>A" "0.000008" "Khandelwal et al., manuscript submitted" "" "" "inherited from healthy father" "Germline" "?" "rs757669482" "0" "" "" "g.189864322G>A" "" "VUS" "" "0000439898" "0" "50" "3" "189586373" "189586373" "subst" "0" "03130" "TP63_000045" "g.189586373C>T" "" "Khandelwal et al., manuscript submitted" "" "" "" "Unknown" "?" "" "0" "" "" "g.189868584C>T" "" "VUS" "" "0000440016" "11" "70" "3" "189590648" "189590648" "subst" "0" "03130" "TP63_000051" "g.189590648G>A" "" " \tKhandelwal et al., manuscript submitted" "" "" "Inherited from healthy father" "Germline" "?" "" "0" "" "" "g.189872859G>A" "" "likely pathogenic" "" "0000440038" "11" "50" "3" "189590658" "189590658" "subst" "8.1357E-6" "03130" "TP63_000052" "g.189590658G>A" "0.000008" " \tKhandelwal et al., manuscript submitted" "" "" "inherited from healthy father" "Germline" "?" "rs751698974" "0" "" "" "g.189872869G>A" "" "VUS" "" "0000440039" "0" "50" "3" "189597893" "189597893" "subst" "3.66214E-5" "03130" "TP63_000053" "g.189597893C>T" "0.00004" " \tKhandelwal et al., manuscript submitted" "" "" "" "Germline" "?" "rs369826042" "0" "" "" "g.189880104C>T" "" "VUS" "" "0000440040" "0" "50" "3" "189604292" "189604292" "subst" "0.000101669" "03130" "TP63_000054" "g.189604292C>T" "0.0001" " \tKhandelwal et al., manuscript submitted" "" "" "" "Germline" "?" "rs777306829" "0" "" "" "g.189886503C>T" "" "VUS" "" "0000440041" "0" "50" "3" "189455551" "189455551" "subst" "1.62658E-5" "03130" "TP63_000055" "g.189455551T>G" "0.000008" " \tKhandelwal et al., manuscript submitted" "" "" "" "Unknown" "?" "rs533808847" "0" "" "" "g.189737762T>G" "" "VUS" "" "0000440042" "0" "50" "3" "189526142" "189526142" "subst" "0" "03130" "TP63_000056" "g.189526142A>G" "" " \tKhandelwal et al., manuscript submitted" "" "" "predicted to be tolerated" "Unknown" "?" "" "0" "" "" "g.189808353A>G" "" "VUS" "" "0000440043" "0" "50" "3" "189582166" "189582166" "subst" "0" "03130" "TP63_000050" "g.189582166A>G" "" " \tKhandelwal et al., manuscript submitted" "" "" "" "Unknown" "?" "rs201617537" "0" "" "" "g.189864377A>G" "" "VUS" "" "0000440044" "0" "50" "3" "189586497" "189586497" "subst" "6.09538E-5" "03130" "TP63_000057" "g.189586497C>T" "0.00005" " \tKhandelwal et al., manuscript submitted" "" "" "" "Unknown" "?" "rs199807776" "0" "" "" "g.189868708C>T" "" "VUS" "" "0000441275" "0" "11" "3" "189604160" "189604160" "subst" "0.710275" "00802" "TP63_000023" "g.189604160T>C" "" "" "" "" "" "Germline" "" "rs1345186" "0" "" "" "g.189886371T>C" "" "benign" "" "0000441276" "0" "11" "3" "189604149" "189604149" "subst" "0.709912" "00802" "TP63_000022" "g.189604149T>G" "" "" "" "" "" "Germline" "" "rs1554131" "0" "" "" "g.189886360T>G" "" "benign" "" "0000441277" "0" "11" "3" "189582241" "189582241" "subst" "0.119896" "00802" "TP63_000007" "g.189582241T>G" "" "" "" "" "" "Germline" "" "rs17514215" "0" "" "" "g.189864452T>G" "" "benign" "" "0000441278" "0" "11" "3" "189582249" "189582249" "subst" "0.123293" "00802" "TP63_000008" "g.189582249G>A" "" "" "" "" "" "Germline" "" "rs2276792" "0" "" "" "g.189864460G>A" "" "benign" "" "0000441279" "0" "11" "3" "189349247" "189349247" "subst" "0" "00802" "TP63_000001" "g.189349247A>T" "" "" "" "" "" "Germline" "" "rs28673064" "0" "" "" "g.189631458A>T" "" "benign" "" "0000441280" "0" "11" "3" "189584563" "189584563" "subst" "0.0164723" "00802" "TP63_000010" "g.189584563C>T" "" "" "" "" "" "Germline" "" "rs33979049" "0" "" "" "g.189866774C>T" "" "benign" "" "0000441281" "0" "11" "3" "189612336" "189612336" "subst" "0.0556471" "00802" "TP63_000032" "g.189612336C>T" "" "" "" "" "" "Germline" "" "rs34057105" "0" "" "" "g.189894547C>T" "" "benign" "" "0000441282" "0" "11" "3" "189585651" "189585651" "subst" "0" "00802" "TP63_000012" "g.189585651C>T" "" "" "" "" "" "Germline" "" "rs34119860" "0" "" "" "g.189867862C>T" "" "benign" "" "0000441283" "0" "11" "3" "189608734" "189608734" "subst" "0" "00802" "TP63_000029" "g.189608734G>A" "" "" "" "" "" "Germline" "" "rs34209347" "0" "" "" "g.189890945G>A" "" "benign" "" "0000441284" "0" "11" "3" "189526407" "189526407" "subst" "0" "00802" "TP63_000005" "g.189526407C>T" "" "" "" "" "" "Germline" "" "rs34273202" "0" "" "" "g.189808618C>T" "" "benign" "" "0000441285" "0" "11" "3" "189590850" "189590850" "subst" "0" "00802" "TP63_000021" "g.189590850G>A" "" "" "" "" "" "Germline" "" "rs34372553" "0" "" "" "g.189873061G>A" "" "benign" "" "0000441286" "0" "11" "3" "189526354" "189526354" "subst" "0.000512829" "00802" "TP63_000004" "g.189526354T>A" "" "" "" "" "" "Germline" "" "rs34429985" "0" "" "" "g.189808565T>A" "" "benign" "" "0000441287" "0" "11" "3" "189584436" "189584436" "subst" "9.52862E-5" "00802" "TP63_000009" "g.189584436A>G" "" "" "" "" "" "Germline" "" "rs34563218" "0" "" "" "g.189866647A>G" "" "benign" "" "0000441288" "0" "11" "3" "189607318" "189607318" "dup" "0" "00802" "TP63_000025" "g.189607318dup" "" "" "" "" "" "Germline" "" "rs34681406" "0" "" "" "g.189889529dup" "" "benign" "" "0000441289" "0" "11" "3" "189612269" "189612269" "subst" "4.07495E-6" "00802" "TP63_000031" "g.189612269G>T" "" "" "" "" "" "Germline" "" "rs34713855" "0" "" "" "g.189894480G>T" "" "benign" "" "0000441290" "0" "11" "3" "189586438" "189586438" "subst" "0.000581239" "00802" "TP63_000014" "g.189586438G>A" "" "" "" "" "" "Germline" "" "rs34841666" "0" "" "" "g.189868649G>A" "" "benign" "" "0000441291" "0" "11" "3" "189455681" "189455681" "subst" "0.0380175" "00802" "TP63_000002" "g.189455681T>C" "" "" "" "" "" "Germline" "" "rs34875865" "0" "" "" "g.189737892T>C" "" "benign" "" "0000441292" "0" "11" "3" "189612203" "189612203" "dup" "0" "00802" "TP63_000030" "g.189612203dup" "" "" "" "1955dup" "" "Germline" "" "rs35067146" "0" "" "" "g.189894414dup" "" "benign" "" "0000441293" "0" "11" "3" "189584654" "189584654" "subst" "0" "00802" "TP63_000011" "g.189584654G>A" "" "" "" "" "" "Germline" "" "rs35245550" "0" "" "" "g.189866865G>A" "" "benign" "" "0000441294" "0" "11" "3" "189587238" "189587238" "subst" "4.68468E-5" "00802" "TP63_000017" "g.189587238T>C" "" "" "" "" "" "Germline" "" "rs35361646" "0" "" "" "g.189869449T>C" "" "benign" "" "0000441295" "0" "11" "3" "189607319" "189607319" "subst" "0.0324289" "00802" "TP63_000026" "g.189607319G>A" "" "" "" "" "" "Germline" "" "rs35558939" "0" "" "" "g.189889530G>A" "" "benign" "" "0000441296" "0" "11" "3" "189607360" "189607360" "subst" "0" "00802" "TP63_000027" "g.189607360T>C" "" "" "" "" "" "Germline" "" "rs35607757" "0" "" "" "g.189889571T>C" "" "benign" "" "0000441297" "0" "11" "3" "189526027" "189526027" "subst" "0.00144403" "00802" "TP63_000003" "g.189526027C>T" "" "" "" "" "" "Germline" "" "rs36023188" "0" "" "" "g.189808238C>T" "" "benign" "" "0000441298" "0" "11" "3" "189582119" "189582119" "subst" "0.000264268" "00802" "TP63_000006" "g.189582119C>T" "" "" "" "" "" "Germline" "" "rs61732782" "0" "" "" "g.189864330C>T" "" "benign" "" "0000441299" "0" "11" "3" "189607202" "189607202" "subst" "0" "00802" "TP63_000024" "g.189607202C>T" "" "" "" "" "" "Germline" "" "rs61752082" "0" "" "" "g.189889413C>T" "" "benign" "" "0000441300" "0" "11" "3" "189586550" "189586550" "subst" "0" "00802" "TP63_000015" "g.189586550C>T" "" "" "" "" "" "Germline" "" "rs62281460" "0" "" "" "g.189868761C>T" "" "benign" "" "0000441301" "0" "11" "3" "189587091" "189587091" "subst" "0.22308" "00802" "TP63_000016" "g.189587091A>G" "" "" "" "" "" "Germline" "" "rs6789961" "0" "" "" "g.189869302A>G" "" "benign" "" "0000441302" "0" "11" "3" "189587274" "189587274" "subst" "0" "00802" "TP63_000018" "g.189587274A>G" "" "" "" "" "" "Germline" "" "rs6790167" "0" "" "" "g.189869485A>G" "" "benign" "" "0000441303" "0" "11" "3" "189608711" "189608711" "subst" "8.31345E-6" "00802" "TP63_000028" "g.189608711A>G" "" "" "" "" "" "Germline" "" "rs6793571" "0" "" "" "g.189890922A>G" "" "benign" "" "0000441304" "0" "11" "3" "189590824" "189590824" "subst" "0.486215" "00802" "TP63_000019" "g.189590824G>C" "" "" "" "" "" "Germline" "" "rs9840359" "0" "" "" "g.189873035G>C" "" "benign" "" "0000441305" "0" "11" "3" "189590825" "189590825" "subst" "0.201834" "00802" "TP63_000020" "g.189590825G>A" "" "" "" "" "" "Germline" "" "rs9840360" "0" "" "" "g.189873036G>A" "" "benign" "" "0000441306" "1" "97" "3" "189586386" "189586386" "subst" "0" "00802" "TP63_000013" "g.189586386G>A" "" "{PMID:Valenzise 2008:18603493}" "" "893G>A" "" "Germline" "" "" "0" "" "" "g.189868597G>A" "" "pathogenic" "" "0000441307" "1" "95" "3" "189526254" "189526254" "subst" "0" "03134" "TP63_000033" "g.189526254G>T" "" "{PMID:Monti 2013:23463580}, {DOI:Monti 2013:10.1002/humu.22304}" "" "" "" "Germline" "" "" "0" "" "" "g.189808465G>T" "" "pathogenic" "" "0000441308" "1" "95" "3" "189582019" "189582019" "subst" "0" "03134" "TP63_000034" "g.189582019A>G" "" "{PMID:Monti 2013:23463580}, {DOI:Monti 2013:10.1002/humu.22304}" "" "" "" "Germline" "" "" "0" "" "" "g.189864230A>G" "" "pathogenic" "" "0000474408" "0" "90" "3" "189582133" "189582133" "subst" "0" "01962" "TP63_000071" "g.189582133A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.189864344A>G" "" "pathogenic (dominant)" "" "0000474409" "21" "90" "3" "189582169" "189582169" "subst" "0" "01962" "TP63_000073" "g.189582169G>A" "" "" "" "" "dominant, reduced risk" "Germline" "" "" "0" "" "" "g.189864380G>A" "" "pathogenic (!)" "" "0000474410" "21" "70" "3" "189585682" "189585682" "subst" "0" "01962" "TP63_000084" "g.189585682G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.189867893G>T" "" "likely pathogenic" "" "0000480111" "21" "70" "3" "189585682" "189585682" "subst" "0" "01962" "TP63_000084" "g.189585682G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.189867893G>T" "" "likely pathogenic" "" "0000518730" "0" "10" "3" "189507515" "189507518" "dup" "0" "02326" "TP63_000085" "g.189507515_189507518dup" "" "" "" "TP63(NM_001114980.2):c.-75_-72dupTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189789726_189789729dup" "" "benign" "" "0000518731" "0" "10" "3" "189507518" "189507519" "ins" "0" "02326" "TP63_000086" "g.189507518_189507519insAG" "" "" "" "TP63(NM_001114980.2):c.-72_-71insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189789729_189789730insAG" "" "benign" "" "0000518732" "0" "70" "3" "189582045" "189582045" "subst" "0" "02325" "TP63_000087" "g.189582045T>C" "" "" "" "TP63(NM_001329964.2):c.598T>C (p.Y200H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189864256T>C" "" "likely pathogenic" "" "0000518733" "0" "70" "3" "189582060" "189582060" "subst" "0" "02327" "TP63_000088" "g.189582060A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189864271A>G" "" "likely pathogenic" "" "0000518734" "0" "50" "3" "189584570" "189584570" "subst" "0" "01804" "TP63_000089" "g.189584570C>A" "" "" "" "TP63(NM_001114978.1):c.866C>A (p.(Pro289His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189866781C>A" "" "VUS" "" "0000518735" "0" "90" "3" "189586404" "189586404" "subst" "0" "02327" "TP63_000090" "g.189586404G>A" "" "" "" "TP63(NM_003722.5):c.1028G>A (p.R343Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189868615G>A" "" "pathogenic" "" "0000518737" "0" "30" "3" "189586497" "189586497" "subst" "6.09538E-5" "01804" "TP63_000057" "g.189586497C>T" "" "" "" "TP63(NM_001114978.1):c.1121C>T (p.(Thr374Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189868708C>T" "" "likely benign" "" "0000518738" "0" "30" "3" "189590644" "189590644" "subst" "2.03422E-5" "01804" "TP63_000092" "g.189590644A>G" "" "" "" "TP63(NM_001114978.1):c.1213-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189872855A>G" "" "likely benign" "" "0000518739" "0" "30" "3" "189590760" "189590760" "subst" "0" "01804" "TP63_000093" "g.189590760A>G" "" "" "" "TP63(NM_001114980.1):c.1043A>G (p.(Gln348Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189872971A>G" "" "likely benign" "" "0000518740" "0" "50" "3" "189607155" "189607155" "subst" "0" "02325" "TP63_000094" "g.189607155A>G" "" "" "" "TP63(NM_003722.5):c.1534A>G (p.M512V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189889366A>G" "" "VUS" "" "0000518741" "0" "50" "3" "189608622" "189608622" "subst" "3.65678E-5" "02325" "TP63_000095" "g.189608622C>T" "" "" "" "TP63(NM_001114980.1):c.1415C>T (p.(Thr472Met)), TP63(NM_001329964.2):c.1691C>T (p.T564M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189890833C>T" "" "VUS" "" "0000518742" "0" "50" "3" "189608663" "189608663" "subst" "4.06369E-6" "01804" "TP63_000096" "g.189608663T>G" "" "" "" "TP63(NM_001114980.1):c.1456T>G (p.(Ser486Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189890874T>G" "" "VUS" "" "0000518743" "0" "90" "3" "189612047" "189612047" "subst" "0" "02327" "TP63_000097" "g.189612047G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189894258G>T" "" "pathogenic" "" "0000608443" "0" "70" "3" "189585668" "189585668" "subst" "0" "02327" "TP63_000099" "g.189585668G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189867879G>A" "" "likely pathogenic" "" "0000608444" "0" "90" "3" "189608606" "189608606" "subst" "0" "02327" "TP63_000100" "g.189608606T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189890817T>G" "" "pathogenic" "" "0000608445" "0" "50" "3" "189612005" "189612005" "subst" "0" "01804" "TP63_000101" "g.189612005G>T" "" "" "" "TP63(NM_001114978.1):c.1663G>T (p.(Val555Phe)), TP63(NM_003722.5):c.1757G>T (p.S586I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189894216G>T" "" "VUS" "" "0000621224" "0" "50" "3" "189612062" "189612062" "subst" "0.000138377" "02325" "TP63_000102" "g.189612062G>A" "" "" "" "TP63(NM_001329964.2):c.1808G>A (p.R603Q), TP63(NM_003722.5):c.1814G>A (p.(Arg605Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.189894273G>A" "" "VUS" "" "0000643138" "0" "70" "3" "189582132" "189582132" "subst" "0" "01741" "TP63_000103" "g.189582132T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.189864343T>C" "" "likely pathogenic" "" "0000651153" "1" "10" "3" "189455681" "189455681" "subst" "0.0380175" "03575" "TP63_000002" "g.189455681T>C" "85/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "85 heterozygous; {DB:CLININrs34875865}" "Germline" "" "rs34875865" "0" "" "" "g.189737892T>C" "" "benign" "" "0000669759" "3" "10" "3" "189455681" "189455681" "subst" "0.0380175" "03575" "TP63_000002" "g.189455681T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs34875865}" "Germline" "" "rs34875865" "0" "" "" "g.189737892T>C" "" "benign" "" "0000676905" "0" "90" "3" "189582168" "189582168" "subst" "0" "02325" "TP63_000072" "g.189582168C>T" "" "" "" "TP63(NM_001329964.2):c.721C>T (p.R241W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000688998" "0" "30" "3" "189607152" "189607152" "subst" "0.0030963" "01943" "TP63_000066" "g.189607152C>A" "" "" "" "TP63(NM_001114978.1):c.1531C>A (p.(Pro511Thr)), TP63(NM_001329964.1):c.1525C>A (p.P509T), TP63(NM_003722.5):c.1531C>A (p.P511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000730085" "0" "90" "3" "189582180" "189582180" "subst" "0" "00000" "TP63_000104" "g.189582180C>T" "" "{PMID:Maddirevula 2018:29620724}" "" "NM_003722.4:c.739C>T:(p.His247Tyr)" "" "De novo" "" "" "0" "" "" "g.189864391C>T" "" "pathogenic (dominant)" "" "0000850202" "0" "90" "3" "189585691" "189585691" "subst" "0" "02325" "TP63_000076" "g.189585691C>T" "" "" "" "TP63(NM_003722.5):c.952C>T (p.R318C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850203" "0" "30" "3" "189607152" "189607152" "subst" "0.0030963" "02325" "TP63_000066" "g.189607152C>A" "" "" "" "TP63(NM_001114978.1):c.1531C>A (p.(Pro511Thr)), TP63(NM_001329964.1):c.1525C>A (p.P509T), TP63(NM_003722.5):c.1531C>A (p.P511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000858916" "0" "90" "3" "189584500" "189584500" "subst" "0" "02325" "TP63_000105" "g.189584500C>T" "" "" "" "TP63(NM_003722.5):c.796C>T (p.R266*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858917" "0" "90" "3" "189584501" "189584501" "subst" "0" "02327" "TP63_000106" "g.189584501G>A" "" "" "" "TP63(NM_003722.5):c.797G>A (p.R266Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000858918" "0" "90" "3" "189586403" "189586403" "subst" "0" "02325" "TP63_000081" "g.189586403C>T" "" "" "" "TP63(NM_003722.5):c.1027C>T (p.R343W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000881288" "0" "70" "3" "189584585" "189584585" "subst" "0" "02300" "TP63_000107" "g.189584585A>G" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PP2, PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.189866796A>G" "" "likely pathogenic (dominant)" "ACMG" "0000885680" "0" "10" "3" "189507518" "189507519" "ins" "0" "02327" "TP63_000086" "g.189507518_189507519insAG" "" "" "" "TP63(NM_001114980.2):c.-72_-71insAG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885681" "0" "10" "3" "189507518" "189507519" "ins" "0" "02327" "TP63_000108" "g.189507518_189507519insAGAG" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000885682" "0" "30" "3" "189582140" "189582140" "subst" "9.35317E-5" "02326" "TP63_000109" "g.189582140A>G" "" "" "" "TP63(NM_001329964.1):c.693A>G (p.K231=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885683" "0" "30" "3" "189585657" "189585657" "subst" "2.43885E-5" "02326" "TP63_000110" "g.189585657C>T" "" "" "" "TP63(NM_001329964.1):c.912C>T (p.F304=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885684" "0" "30" "3" "189607152" "189607152" "subst" "0.0030963" "02326" "TP63_000066" "g.189607152C>A" "" "" "" "TP63(NM_001114978.1):c.1531C>A (p.(Pro511Thr)), TP63(NM_001329964.1):c.1525C>A (p.P509T), TP63(NM_003722.5):c.1531C>A (p.P511T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000908392" "0" "70" "3" "189608606" "189608606" "subst" "0" "04433" "TP63_000111" "g.189608606T>C" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.189890817T>C" "" "likely pathogenic (dominant)" "" "0000911876" "0" "50" "3" "189526152" "189526152" "subst" "1.21828E-5" "01804" "TP63_000112" "g.189526152C>T" "" "" "" "TP63(NM_001114978.1):c.416C>T (p.(Ala139Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911877" "0" "90" "3" "189582162" "189582162" "subst" "0" "02327" "TP63_000113" "g.189582162G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000923887" "0" "90" "3" "189586404" "189586404" "subst" "0" "02325" "TP63_000090" "g.189586404G>A" "" "" "" "TP63(NM_003722.5):c.1028G>A (p.R343Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928748" "0" "50" "3" "189584585" "189584585" "subst" "0" "02325" "TP63_000107" "g.189584585A>G" "" "" "" "TP63(NM_003722.5):c.881A>G (p.Q294R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928749" "0" "70" "3" "189586410" "189586410" "subst" "0" "02325" "TP63_000114" "g.189586410G>T" "" "" "" "TP63(NM_003722.5):c.1034G>T (p.C345F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975708" "0" "50" "3" "189607246" "189607246" "subst" "4.06808E-6" "01804" "TP63_000115" "g.189607246C>T" "" "" "" "TP63(NM_003722.5):c.1625C>T (p.(Pro542Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975709" "0" "30" "3" "189612009" "189612009" "subst" "6.52614E-5" "01804" "TP63_000116" "g.189612009G>A" "" "" "" "TP63(NM_001329144.2):c.1522G>A (p.(Glu508Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993492" "0" "50" "3" "189526054" "189526054" "subst" "0" "01804" "TP63_000117" "g.189526054C>T" "" "" "" "TP63(NM_003722.4):c.325-7C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993493" "0" "30" "3" "189584503" "189584503" "subst" "1.21917E-5" "01804" "TP63_000118" "g.189584503G>A" "" "" "" "TP63(NM_001114980.1):c.517G>A (p.(Val173Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993494" "0" "50" "3" "189587161" "189587161" "subst" "4.06607E-6" "01804" "TP63_000119" "g.189587161G>A" "" "" "" "TP63(NM_003722.4):c.1178G>A (p.(Arg393Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993495" "0" "50" "3" "189590774" "189590774" "subst" "4.06706E-6" "01804" "TP63_000120" "g.189590774C>T" "" "" "" "TP63(NM_001114980.1):c.1057C>T (p.(Leu353Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993496" "0" "30" "3" "189597908" "189597908" "subst" "1.62701E-5" "01804" "TP63_000121" "g.189597908A>G" "" "" "" "TP63(NM_001114979.1):c.1405A>G (p.(Lys469Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993497" "0" "50" "3" "189604260" "189604260" "subst" "0" "01804" "TP63_000122" "g.189604260C>T" "" "" "" "TP63(NM_003722.4):c.1427C>T (p.(Pro476Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993498" "0" "30" "3" "189608622" "189608622" "subst" "3.65678E-5" "01804" "TP63_000095" "g.189608622C>T" "" "" "" "TP63(NM_001114980.1):c.1415C>T (p.(Thr472Met)), TP63(NM_001329964.2):c.1691C>T (p.T564M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993499" "0" "50" "3" "189612005" "189612005" "subst" "0" "02325" "TP63_000101" "g.189612005G>T" "" "" "" "TP63(NM_001114978.1):c.1663G>T (p.(Val555Phe)), TP63(NM_003722.5):c.1757G>T (p.S586I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993500" "0" "90" "3" "189612262" "189612262" "subst" "0" "02325" "TP63_000123" "g.189612262C>T" "" "" "" "TP63(NM_003722.5):c.2014C>T (p.Q672*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024755" "0" "90" "3" "189585662" "189585662" "subst" "0" "02327" "TP63_000124" "g.189585662G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033860" "0" "30" "3" "189607126" "189607126" "subst" "3.65738E-5" "01804" "TP63_000125" "g.189607126C>T" "" "" "" "TP63(NM_003722.5):c.1508-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033861" "0" "50" "3" "189612082" "189612084" "del" "0" "01804" "TP63_000126" "g.189612082_189612084del" "" "" "" "TP63(NM_003722.5):c.1834_1836del (p.(Ser612del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045897" "0" "90" "3" "189584501" "189584501" "subst" "0" "02325" "TP63_000106" "g.189584501G>A" "" "" "" "TP63(NM_003722.5):c.797G>A (p.R266Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001051609" "0" "50" "3" "189456523" "189456523" "subst" "8.13643E-6" "01804" "TP63_000127" "g.189456523G>A" "" "" "" "TP63(NM_003722.5):c.284G>A (p.(Cys95Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051610" "0" "50" "3" "189604335" "189604335" "subst" "0" "01804" "TP63_000128" "g.189604335C>A" "" "" "" "TP63(NM_003722.5):c.1502C>A (p.(Ala501Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051611" "0" "50" "3" "189612062" "189612062" "subst" "0.000138377" "01804" "TP63_000102" "g.189612062G>A" "" "" "" "TP63(NM_001329964.2):c.1808G>A (p.R603Q), TP63(NM_003722.5):c.1814G>A (p.(Arg605Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051612" "0" "50" "3" "189612116" "189612116" "subst" "0" "01804" "TP63_000129" "g.189612116C>T" "" "" "" "TP63(NM_003722.5):c.1868C>T (p.(Ala623Val))" "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 TP63 ## Count = 285 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein/Domain}}" "0000168990" "00021671" "50" "83" "0" "83" "0" "c.83A>G" "r.(?)" "p.(His28Arg)" "" "" "0000251303" "00025349" "10" "883" "-139" "883" "-139" "c.883-139A>G" "r.(=)" "p.(=)" "" "" "0000251303" "00021671" "10" "883" "-139" "883" "-139" "c.883-139A>G" "r.(=)" "p.(=)" "" "" "0000251304" "00025349" "10" "1212" "79" "1212" "79" "c.1212+79A>G" "r.(=)" "p.(=)" "" "" "0000251304" "00021671" "10" "1212" "79" "1212" "79" "c.1212+79A>G" "r.(=)" "p.(=)" "" "" "0000252073" "00025349" "30" "10784" "0" "10784" "0" "c.*9320A>C" "r.(=)" "p.(=)" "" "" "0000252073" "00021671" "30" "1652" "14" "1652" "14" "c.1652+14A>C" "r.(=)" "p.(=)" "" "" "0000311983" "00025349" "90" "325" "-18441" "325" "-18441" "c.325-18441C>T" "r.(=)" "p.(=)" "" "" "0000311983" "00021671" "90" "325" "-18441" "325" "-18441" "c.325-18441C>T" "r.(=)" "p.(=)" "" "" "0000314778" "00025349" "10" "1349" "40" "1349" "40" "c.1349+40G>C" "r.(=)" "p.(=)" "" "" "0000314778" "00021671" "10" "1349" "40" "1349" "40" "c.1349+40G>C" "r.(=)" "p.(=)" "" "" "0000314779" "00025349" "10" "7657" "0" "7657" "0" "c.*6193T>C" "r.(=)" "p.(=)" "" "" "0000314779" "00021671" "10" "1350" "-23" "1350" "-23" "c.1350-23T>C" "r.(=)" "p.(=)" "" "" "0000314780" "00025349" "10" "7646" "0" "7646" "0" "c.*6182T>G" "r.(=)" "p.(=)" "" "" "0000314780" "00021671" "10" "1350" "-34" "1350" "-34" "c.1350-34T>G" "r.(=)" "p.(=)" "" "" "0000314781" "00025349" "10" "10717" "0" "10717" "0" "c.*9253C>T" "r.(=)" "p.(=)" "" "" "0000314781" "00021671" "10" "1599" "0" "1599" "0" "c.1599C>T" "r.(?)" "p.(Ser533=)" "" "" "0000314782" "00025349" "10" "10816" "0" "10816" "0" "c.*9352G>A" "r.(=)" "p.(=)" "" "" "0000314782" "00021671" "10" "1652" "46" "1652" "46" "c.1652+46G>A" "r.(=)" "p.(=)" "" "" "0000314783" "00025349" "10" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000314783" "00021671" "10" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000314784" "00025349" "10" "325" "-76" "325" "-76" "c.325-76C>A" "r.(=)" "p.(=)" "" "" "0000314784" "00021671" "10" "325" "-76" "325" "-76" "c.325-76C>A" "r.(=)" "p.(=)" "" "" "0000314785" "00025349" "10" "580" "-20047" "580" "-20047" "c.580-20047del" "r.(=)" "p.(=)" "" "" "0000314785" "00021671" "10" "580" "-20047" "580" "-20047" "c.580-20047del" "r.(=)" "p.(=)" "" "" "0000329760" "00025349" "50" "10643" "0" "10643" "0" "c.*9179C>T" "r.(=)" "p.(=)" "" "" "0000329760" "00021671" "50" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(His509Tyr)" "" "" "0000329761" "00025349" "30" "10649" "0" "10649" "0" "c.*9185C>A" "r.(=)" "p.(=)" "" "" "0000329761" "00021671" "30" "1531" "0" "1531" "0" "c.1531C>A" "r.(?)" "p.(Pro511Thr)" "" "" "0000337407" "00025349" "10" "10784" "0" "10784" "0" "c.*9320A>C" "r.(=)" "p.(=)" "" "" "0000337407" "00021671" "10" "1652" "14" "1652" "14" "c.1652+14A>C" "r.(=)" "p.(=)" "" "" "0000339025" "00025349" "70" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338His)" "" "" "0000339025" "00021671" "70" "1013" "0" "1013" "0" "c.1013G>A" "r.(?)" "p.(Arg338His)" "" "" "0000341391" "00025349" "70" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Ala354Glu)" "" "" "0000341391" "00021671" "70" "1061" "0" "1061" "0" "c.1061C>A" "r.(?)" "p.(Ala354Glu)" "" "" "0000342389" "00025349" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "" "0000342389" "00021671" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "" "0000342390" "00025349" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Trp)" "" "" "0000342390" "00021671" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Trp)" "" "" "0000342623" "00025349" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Cys)" "" "" "0000342623" "00021671" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Cys)" "" "" "0000342624" "00025349" "90" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318His)" "" "" "0000342624" "00021671" "90" "953" "0" "953" "0" "c.953G>A" "r.(?)" "p.(Arg318His)" "" "" "0000342626" "00025349" "90" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319Cys)" "" "" "0000342626" "00021671" "90" "955" "0" "955" "0" "c.955C>T" "r.(?)" "p.(Arg319Cys)" "" "" "0000342627" "00025349" "90" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Arg319His)" "" "" "0000342627" "00021671" "90" "956" "0" "956" "0" "c.956G>A" "r.(?)" "p.(Arg319His)" "" "" "0000342669" "00025349" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "" "0000342669" "00021671" "90" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "" "0000342687" "00025349" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Trp)" "" "" "0000342687" "00021671" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Trp)" "" "" "0000343377" "00025349" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "" "0000343377" "00021671" "30" "19" "0" "19" "0" "c.19C>T" "r.(?)" "p.(Arg7Trp)" "" "" "0000343703" "00025349" "70" "926" "0" "926" "0" "c.926A>G" "r.(?)" "p.(Asn309Ser)" "" "" "0000343703" "00021671" "70" "926" "0" "926" "0" "c.926A>G" "r.(?)" "p.(Asn309Ser)" "" "" "0000344366" "00025349" "90" "1033" "0" "1033" "0" "c.1033T>C" "r.(?)" "p.(Cys345Arg)" "" "" "0000344366" "00021671" "90" "1033" "0" "1033" "0" "c.1033T>C" "r.(?)" "p.(Cys345Arg)" "" "" "0000344368" "00025349" "90" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Cys347Tyr)" "" "" "0000344368" "00021671" "90" "1040" "0" "1040" "0" "c.1040G>A" "r.(?)" "p.(Cys347Tyr)" "" "" "0000345660" "00025349" "90" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Gly115Trp)" "" "" "0000345660" "00021671" "90" "343" "0" "343" "0" "c.343G>T" "r.(?)" "p.(Gly115Trp)" "" "" "0000345792" "00025349" "90" "518" "0" "518" "0" "c.518G>T" "r.(?)" "p.(Gly173Val)" "" "" "0000345792" "00021671" "90" "518" "0" "518" "0" "c.518G>T" "r.(?)" "p.(Gly173Val)" "" "" "0000346165" "00025349" "90" "12128" "0" "12128" "0" "c.*10664G>T" "r.(=)" "p.(=)" "" "" "0000346165" "00021671" "90" "1706" "0" "1706" "0" "c.1706G>T" "r.(?)" "p.(Gly569Val)" "" "" "0000346426" "00025349" "70" "740" "0" "740" "0" "c.740A>C" "r.(?)" "p.(His247Pro)" "" "" "0000346426" "00021671" "70" "740" "0" "740" "0" "c.740A>C" "r.(?)" "p.(His247Pro)" "" "" "0000346762" "00025349" "90" "10764" "0" "10764" "0" "c.*9300T>C" "r.(=)" "p.(=)" "" "" "0000346762" "00021671" "90" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Ile549Thr)" "" "" "0000346774" "00025349" "70" "15535" "0" "15535" "0" "c.*14071T>G" "r.(=)" "p.(=)" "" "" "0000346774" "00021671" "70" "1790" "0" "1790" "0" "c.1790T>G" "r.(?)" "p.(Ile597Ser)" "" "" "0000347071" "00025349" "10" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Leu287=)" "" "" "0000347071" "00021671" "10" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Leu287=)" "" "" "0000347221" "00025349" "90" "12080" "0" "12080" "0" "c.*10616T>C" "r.(=)" "p.(=)" "" "" "0000347221" "00021671" "90" "1658" "0" "1658" "0" "c.1658T>C" "r.(?)" "p.(Leu553Ser)" "" "" "0000348395" "00025349" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Pro348Ala)" "" "" "0000348395" "00021671" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Pro348Ala)" "" "" "0000348396" "00025349" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Pro348Ser)" "" "" "0000348396" "00021671" "90" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Pro348Ser)" "" "" "0000349104" "00025349" "90" "12161" "0" "12161" "0" "c.*10697C>T" "r.(=)" "p.(=)" "" "" "0000349104" "00021671" "90" "1739" "0" "1739" "0" "c.1739C>T" "r.(?)" "p.(Ser580Phe)" "" "" "0000349105" "00025349" "90" "12161" "0" "12161" "0" "c.*10697C>A" "r.(=)" "p.(=)" "" "" "0000349105" "00021671" "90" "1739" "0" "1739" "0" "c.1739C>A" "r.(?)" "p.(Ser580Tyr)" "" "" "0000349994" "00025349" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "" "0000349994" "00021671" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "" "0000369939" "00021671" "90" "1532" "0" "1532" "0" "c.1532dup" "r.(?)" "p.(Met512Asnfs*66)" "" "" "0000439803" "00025349" "90" "0" "0" "0" "0" "ACMG: 5" "r.0" "p.0" "_1_14_" "" "0000439803" "00021671" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_14_" "" "0000439807" "00021671" "90" "1747" "-1" "4820" "0" "c.(1746+1_1747-1)_(*2777_?)del" "r.0?" "p.?" "13i_14_" "" "0000439808" "00021671" "90" "-1" "0" "579" "1" "c.(?_-1)_(579+1_580-1)del" "r.0?" "p.0?" "_1_4i" "" "0000439892" "00021671" "90" "569" "0" "576" "0" "c.569_576del" "r.spl?" "p.(Ala190Aspfs*5)" "4" "" "0000439897" "00021671" "50" "670" "0" "670" "0" "c.670G>A" "r.(?)" "p.(Val224Ile)" "5" "" "0000439898" "00021671" "50" "997" "0" "997" "0" "c.997C>T" "r.0?" "p.0?" "8" "" "0000440016" "00021671" "70" "1213" "0" "1213" "0" "c.1213G>A" "r.spl?" "p.(Val405Met)" "10" "" "0000440038" "00021671" "50" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408His)" "10" "" "0000440039" "00025349" "50" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464Trp)" "15" "" "0000440039" "00021671" "50" "1350" "-6290" "1350" "-6290" "c.1350-6290C>T" "r.(?)" "p.(=)" "" "" "0000440040" "00021671" "50" "1459" "0" "1459" "0" "c.1459C>T" "r.(?)" "p.(Arg487Cys)" "11" "" "0000440041" "00021671" "50" "85" "0" "85" "0" "c.85T>G" "r.(?)" "p.(Phe29Val)" "2" "" "0000440042" "00021671" "50" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Thr136Ala)" "4" "" "0000440043" "00021671" "50" "725" "0" "725" "0" "c.725A>G" "r.(?)" "p.(Lys242Arg)" "5" "" "0000440044" "00021671" "50" "1121" "0" "1121" "0" "c.1121C>T" "c.(?)" "p.(Thr374Met)" "8" "" "0000441275" "00025349" "00" "7657" "0" "7657" "0" "c.*6193T>C" "r.(=)" "p.(=)" "" "" "0000441275" "00021671" "11" "1350" "-23" "1350" "-23" "c.1350-23T>C" "r.(?)" "p.(=)" "10i" "" "0000441276" "00025349" "00" "7646" "0" "7646" "0" "c.*6182T>G" "r.(=)" "p.(=)" "" "" "0000441276" "00021671" "11" "1350" "-34" "1350" "-34" "c.1350-34T>G" "r.(?)" "p.(=)" "10i" "" "0000441277" "00025349" "00" "766" "34" "766" "34" "c.766+34T>G" "r.(=)" "p.(=)" "" "" "0000441277" "00021671" "11" "766" "34" "766" "34" "c.766+34T>G" "r.(?)" "p.(=)" "5i" "" "0000441278" "00025349" "00" "766" "42" "766" "42" "c.766+42G>A" "r.(=)" "p.(=)" "" "" "0000441278" "00021671" "11" "766" "42" "766" "42" "c.766+42G>A" "r.(?)" "p.(=)" "5i" "" "0000441279" "00025349" "00" "-58" "0" "-58" "0" "c.-58A>T" "r.(=)" "p.(=)" "" "" "0000441279" "00021671" "11" "-58" "0" "-58" "0" "c.-58A>T" "r.(?)" "p.(=)" "1" "" "0000441280" "00025349" "00" "859" "0" "859" "0" "c.859C>T" "r.(=)" "p.(=)" "" "" "0000441280" "00021671" "11" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(=)" "6" "" "0000441281" "00021671" "11" "2088" "0" "2088" "0" "c.*45C>T" "r.(?)" "p.(=)" "14" "" "0000441282" "00025349" "00" "912" "0" "912" "0" "c.912C>T" "r.(=)" "p.(=)" "" "" "0000441282" "00021671" "11" "912" "0" "912" "0" "c.912C>T" "r.(?)" "p.(=)" "7" "" "0000441283" "00021671" "11" "1746" "63" "1746" "63" "c.1746+63G>A" "r.(?)" "p.(=)" "13i" "" "0000441284" "00025349" "00" "579" "92" "579" "92" "c.579+92C>T" "r.(=)" "p.(=)" "" "" "0000441284" "00021671" "11" "579" "92" "579" "92" "c.579+92C>T" "r.(?)" "p.(=)" "4i" "" "0000441285" "00025349" "00" "1349" "66" "1349" "66" "c.1349+66G>A" "r.(=)" "p.(=)" "" "" "0000441285" "00021671" "11" "1349" "66" "1349" "66" "c.1349+66G>A" "r.(?)" "p.(=)" "10i" "" "0000441286" "00025349" "00" "579" "39" "579" "39" "c.579+39T>A" "r.(=)" "p.(=)" "" "" "0000441286" "00021671" "11" "579" "39" "579" "39" "c.579+39T>A" "r.(?)" "p.(=)" "4i" "" "0000441287" "00025349" "00" "767" "-35" "767" "-35" "c.767-35A>G" "r.(=)" "p.(=)" "" "" "0000441287" "00021671" "11" "767" "-35" "767" "-35" "c.767-35A>G" "r.(?)" "p.(=)" "5i" "" "0000441288" "00021671" "11" "1652" "45" "1652" "45" "c.1652+45dup" "r.(=)" "p.(=)" "12i" "" "0000441289" "00021671" "11" "2021" "0" "2021" "0" "c.2021G>T" "r.(?)" "p.(Arg674Leu)" "14" "" "0000441290" "00025349" "00" "1062" "0" "1062" "0" "c.1062G>A" "r.(=)" "p.(=)" "" "" "0000441290" "00021671" "11" "1062" "0" "1062" "0" "c.1062G>A" "r.(?)" "p.(=)" "8" "" "0000441291" "00025349" "00" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000441291" "00021671" "11" "191" "24" "191" "24" "c.191+24T>C" "r.(?)" "p.(=)" "2i" "" "0000441292" "00021671" "11" "1955" "0" "1955" "0" "c.1955dup" "r.(?)" "p.(Pro654Thrfs*4)" "14" "" "0000441293" "00025349" "00" "882" "68" "882" "68" "c.882+68G>A" "r.(=)" "p.(=)" "" "" "0000441293" "00021671" "11" "882" "68" "882" "68" "c.882+68G>A" "r.(?)" "p.(=)" "6i" "" "0000441294" "00025349" "00" "1212" "43" "1212" "43" "c.1212+43T>C" "r.(=)" "p.(=)" "" "" "0000441294" "00021671" "11" "1212" "43" "1212" "43" "c.1212+43T>C" "r.(?)" "p.(=)" "9i" "" "0000441295" "00021671" "11" "1652" "46" "1652" "46" "c.1652+46G>A" "r.(?)" "p.(=)" "12i" "" "0000441296" "00021671" "11" "1652" "87" "1652" "87" "c.1652+87T>C" "r.(?)" "p.(=)" "12i" "" "0000441297" "00025349" "00" "325" "-34" "325" "-34" "c.325-34C>T" "r.(=)" "p.(=)" "" "" "0000441297" "00021671" "11" "325" "-34" "325" "-34" "c.325-34C>T" "r.(?)" "p.(=)" "3i" "" "0000441298" "00025349" "00" "678" "0" "678" "0" "c.678C>T" "r.(=)" "p.(=)" "" "" "0000441298" "00021671" "11" "678" "0" "678" "0" "c.678C>T" "r.(?)" "p.=" "5" "" "0000441299" "00021671" "11" "1581" "0" "1581" "0" "c.1581C>T" "r.(?)" "p.(=)" "12" "" "0000441300" "00025349" "00" "1129" "45" "1129" "45" "c.1129+45C>T" "r.(=)" "p.(=)" "" "" "0000441300" "00021671" "11" "1129" "45" "1129" "45" "c.1129+45C>T" "r.(?)" "p.(=)" "8i" "" "0000441301" "00025349" "00" "1130" "-22" "1130" "-22" "c.1130-22A>G" "r.(=)" "p.(=)" "" "" "0000441301" "00021671" "11" "1130" "-22" "1130" "-22" "c.1130-22A>G" "r.(?)" "p.(=)" "8i" "" "0000441302" "00025349" "00" "1212" "79" "1212" "79" "c.1212+79A>G" "r.(=)" "p.(=)" "" "" "0000441302" "00021671" "11" "1212" "79" "1212" "79" "c.1212+79A>G" "r.(?)" "p.(=)" "9i" "" "0000441303" "00021671" "11" "1746" "40" "1746" "40" "c.1746+40A>G" "r.(?)" "p.(=)" "13i" "" "0000441304" "00025349" "00" "1349" "40" "1349" "40" "c.1349+40G>C" "r.(=)" "p.(=)" "" "" "0000441304" "00021671" "11" "1349" "40" "1349" "40" "c.1349+40G>C" "r.(?)" "p.(=)" "10i" "" "0000441305" "00025349" "00" "1349" "41" "1349" "41" "c.1349+41G>A" "r.(=)" "p.(=)" "" "" "0000441305" "00021671" "11" "1349" "41" "1349" "41" "c.1349+41G>A" "r.(?)" "p.(=)" "10i" "" "0000441306" "00025349" "00" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "" "" "0000441306" "00021671" "97" "1010" "0" "1010" "0" "c.1010G>A" "r.(?)" "p.(Arg337Gln)" "8" "" "0000441307" "00025349" "00" "518" "0" "518" "0" "c.518G>T" "r.(?)" "p.(Gly173Val)" "" "" "0000441307" "00021671" "95" "518" "0" "518" "0" "c.518G>T" "r.(?)" "p.(Gly173Val)" "4" "" "0000441308" "00025349" "00" "580" "-2" "580" "-2" "c.580-2A>G" "r.spl?" "p.?" "" "" "0000441308" "00021671" "95" "580" "-2" "580" "-2" "c.580-2A>G" "r.spl" "p.(Thr193_Tyr194insArg)" "4i" "" "0000474408" "00025349" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "" "0000474408" "00021671" "90" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Tyr231Cys)" "" "" "0000474409" "00025349" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "" "0000474409" "00021671" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "" "0000474410" "00025349" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Gly315Trp)" "" "" "0000474410" "00021671" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Gly315Trp)" "" "" "0000480111" "00025349" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Gly315Trp)" "" "" "0000480111" "00021671" "70" "943" "0" "943" "0" "c.943G>T" "r.(?)" "p.(Gly315Trp)" "" "" "0000518730" "00025349" "10" "325" "-18546" "325" "-18543" "c.325-18546_325-18543dup" "r.(=)" "p.(=)" "" "" "0000518730" "00021671" "10" "325" "-18546" "325" "-18543" "c.325-18546_325-18543dup" "r.(=)" "p.(=)" "" "" "0000518731" "00025349" "10" "325" "-18543" "325" "-18542" "c.325-18543_325-18542insAG" "r.(=)" "p.(=)" "" "" "0000518731" "00021671" "10" "325" "-18543" "325" "-18542" "c.325-18543_325-18542insAG" "r.(=)" "p.(=)" "" "" "0000518732" "00025349" "70" "604" "0" "604" "0" "c.604T>C" "r.(?)" "p.(Tyr202His)" "" "" "0000518732" "00021671" "70" "604" "0" "604" "0" "c.604T>C" "r.(?)" "p.(Tyr202His)" "" "" "0000518733" "00025349" "70" "619" "0" "619" "0" "c.619A>G" "r.(?)" "p.(Lys207Glu)" "" "" "0000518733" "00021671" "70" "619" "0" "619" "0" "c.619A>G" "r.(?)" "p.(Lys207Glu)" "" "" "0000518734" "00025349" "50" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.(Pro289His)" "" "" "0000518734" "00021671" "50" "866" "0" "866" "0" "c.866C>A" "r.(?)" "p.(Pro289His)" "" "" "0000518735" "00025349" "90" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Gln)" "" "" "0000518735" "00021671" "90" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Gln)" "" "" "0000518737" "00025349" "30" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Thr374Met)" "" "" "0000518737" "00021671" "30" "1121" "0" "1121" "0" "c.1121C>T" "r.(?)" "p.(Thr374Met)" "" "" "0000518738" "00025349" "30" "1213" "-4" "1213" "-4" "c.1213-4A>G" "r.spl?" "p.?" "" "" "0000518738" "00021671" "30" "1213" "-4" "1213" "-4" "c.1213-4A>G" "r.spl?" "p.?" "" "" "0000518739" "00025349" "30" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Gln442Arg)" "" "" "0000518739" "00021671" "30" "1325" "0" "1325" "0" "c.1325A>G" "r.(?)" "p.(Gln442Arg)" "" "" "0000518740" "00025349" "50" "10652" "0" "10652" "0" "c.*9188A>G" "r.(=)" "p.(=)" "" "" "0000518740" "00021671" "50" "1534" "0" "1534" "0" "c.1534A>G" "r.(?)" "p.(Met512Val)" "" "" "0000518741" "00025349" "50" "12119" "0" "12119" "0" "c.*10655C>T" "r.(=)" "p.(=)" "" "" "0000518741" "00021671" "50" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Thr566Met)" "" "" "0000518742" "00025349" "50" "12160" "0" "12160" "0" "c.*10696T>G" "r.(=)" "p.(=)" "" "" "0000518742" "00021671" "50" "1738" "0" "1738" "0" "c.1738T>G" "r.(?)" "p.(Ser580Ala)" "" "" "0000518743" "00025349" "90" "15544" "0" "15544" "0" "c.*14080G>T" "r.(=)" "p.(=)" "" "" "0000518743" "00021671" "90" "1799" "0" "1799" "0" "c.1799G>T" "r.(?)" "p.(Gly600Val)" "" "" "0000608443" "00025349" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Ser310Asn)" "" "" "0000608443" "00021671" "70" "929" "0" "929" "0" "c.929G>A" "r.(?)" "p.(Ser310Asn)" "" "" "0000608444" "00025349" "90" "12103" "0" "12103" "0" "c.*10639T>G" "r.(=)" "p.(=)" "" "" "0000608444" "00021671" "90" "1681" "0" "1681" "0" "c.1681T>G" "r.(?)" "p.(Cys561Gly)" "" "" "0000608445" "00025349" "50" "15502" "0" "15502" "0" "c.*14038G>T" "r.(=)" "p.(=)" "" "" "0000608445" "00021671" "50" "1757" "0" "1757" "0" "c.1757G>T" "r.(?)" "p.(Ser586Ile)" "" "" "0000621224" "00025349" "50" "15559" "0" "15559" "0" "c.*14095G>A" "r.(=)" "p.(=)" "" "" "0000621224" "00021671" "50" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Arg605Gln)" "" "" "0000643138" "00025349" "70" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Tyr231His)" "" "" "0000643138" "00021671" "70" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Tyr231His)" "" "" "0000651153" "00025349" "10" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000651153" "00021671" "10" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000669759" "00025349" "10" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000669759" "00021671" "10" "191" "24" "191" "24" "c.191+24T>C" "r.(=)" "p.(=)" "" "" "0000676905" "00025349" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Trp)" "" "" "0000676905" "00021671" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Trp)" "" "" "0000688998" "00025349" "30" "10649" "0" "10649" "0" "c.*9185C>A" "r.(=)" "p.(=)" "" "" "0000688998" "00021671" "30" "1531" "0" "1531" "0" "c.1531C>A" "r.(?)" "p.(Pro511Thr)" "" "" "0000730085" "00025349" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(His247Tyr)" "" "" "0000730085" "00021671" "90" "739" "0" "739" "0" "c.739C>T" "r.(?)" "p.(His247Tyr)" "" "" "0000850202" "00025349" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Cys)" "" "" "0000850202" "00021671" "90" "952" "0" "952" "0" "c.952C>T" "r.(?)" "p.(Arg318Cys)" "" "" "0000850203" "00025349" "30" "10649" "0" "10649" "0" "c.*9185C>A" "r.(=)" "p.(=)" "" "" "0000850203" "00021671" "30" "1531" "0" "1531" "0" "c.1531C>A" "r.(?)" "p.(Pro511Thr)" "" "" "0000858916" "00025349" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "" "" "0000858916" "00021671" "90" "796" "0" "796" "0" "c.796C>T" "r.(?)" "p.(Arg266*)" "" "" "0000858917" "00025349" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266Gln)" "" "" "0000858917" "00021671" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266Gln)" "" "" "0000858918" "00025349" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Trp)" "" "" "0000858918" "00021671" "90" "1027" "0" "1027" "0" "c.1027C>T" "r.(?)" "p.(Arg343Trp)" "" "" "0000881288" "00021671" "70" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Gln294Arg)" "" "" "0000885680" "00025349" "10" "325" "-18543" "325" "-18542" "c.325-18543_325-18542insAG" "r.(=)" "p.(=)" "" "" "0000885680" "00021671" "10" "325" "-18543" "325" "-18542" "c.325-18543_325-18542insAG" "r.(=)" "p.(=)" "" "" "0000885681" "00025349" "10" "325" "-18543" "325" "-18542" "c.325-18543_325-18542insAGAG" "r.(=)" "p.(=)" "" "" "0000885681" "00021671" "10" "325" "-18543" "325" "-18542" "c.325-18543_325-18542insAGAG" "r.(=)" "p.(=)" "" "" "0000885682" "00025349" "30" "699" "0" "699" "0" "c.699A>G" "r.(?)" "p.(Lys233=)" "" "" "0000885682" "00021671" "30" "699" "0" "699" "0" "c.699A>G" "r.(?)" "p.(Lys233=)" "" "" "0000885683" "00025349" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Phe306=)" "" "" "0000885683" "00021671" "30" "918" "0" "918" "0" "c.918C>T" "r.(?)" "p.(Phe306=)" "" "" "0000885684" "00025349" "30" "10649" "0" "10649" "0" "c.*9185C>A" "r.(=)" "p.(=)" "" "" "0000885684" "00021671" "30" "1531" "0" "1531" "0" "c.1531C>A" "r.(?)" "p.(Pro511Thr)" "" "" "0000908392" "00021671" "70" "1681" "0" "1681" "0" "c.1681T>C" "r.(?)" "p.(Cys561Arg)" "13" "" "0000911876" "00025349" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "" "" "0000911876" "00021671" "50" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Ala139Val)" "" "" "0000911877" "00025349" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Val241Met)" "" "" "0000911877" "00021671" "90" "721" "0" "721" "0" "c.721G>A" "r.(?)" "p.(Val241Met)" "" "" "0000923887" "00025349" "90" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Gln)" "" "" "0000923887" "00021671" "90" "1028" "0" "1028" "0" "c.1028G>A" "r.(?)" "p.(Arg343Gln)" "" "" "0000928748" "00025349" "50" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Gln294Arg)" "" "" "0000928748" "00021671" "50" "881" "0" "881" "0" "c.881A>G" "r.(?)" "p.(Gln294Arg)" "" "" "0000928749" "00025349" "70" "1034" "0" "1034" "0" "c.1034G>T" "r.(?)" "p.(Cys345Phe)" "" "" "0000928749" "00021671" "70" "1034" "0" "1034" "0" "c.1034G>T" "r.(?)" "p.(Cys345Phe)" "" "" "0000975708" "00025349" "50" "10743" "0" "10743" "0" "c.*9279C>T" "r.(=)" "p.(=)" "" "" "0000975708" "00021671" "50" "1625" "0" "1625" "0" "c.1625C>T" "r.(?)" "p.(Pro542Leu)" "" "" "0000975709" "00025349" "30" "15506" "0" "15506" "0" "c.*14042G>A" "r.(=)" "p.(=)" "" "" "0000975709" "00021671" "30" "1761" "0" "1761" "0" "c.1761G>A" "r.(?)" "p.(=)" "" "" "0000993492" "00025349" "50" "325" "-7" "325" "-7" "c.325-7C>T" "r.(=)" "p.(=)" "" "" "0000993492" "00021671" "50" "325" "-7" "325" "-7" "c.325-7C>T" "r.(=)" "p.(=)" "" "" "0000993493" "00025349" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Val267Ile)" "" "" "0000993493" "00021671" "30" "799" "0" "799" "0" "c.799G>A" "r.(?)" "p.(Val267Ile)" "" "" "0000993494" "00025349" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "" "0000993494" "00021671" "50" "1178" "0" "1178" "0" "c.1178G>A" "r.(?)" "p.(Arg393Gln)" "" "" "0000993495" "00025349" "50" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Leu447Phe)" "" "" "0000993495" "00021671" "50" "1339" "0" "1339" "0" "c.1339C>T" "r.(?)" "p.(Leu447Phe)" "" "" "0000993496" "00025349" "30" "1405" "0" "1405" "0" "c.1405A>G" "r.(?)" "p.(Lys469Glu)" "" "" "0000993496" "00021671" "30" "1350" "-6275" "1350" "-6275" "c.1350-6275A>G" "r.(=)" "p.(=)" "" "" "0000993497" "00025349" "50" "7757" "0" "7757" "0" "c.*6293C>T" "r.(=)" "p.(=)" "" "" "0000993497" "00021671" "50" "1427" "0" "1427" "0" "c.1427C>T" "r.(?)" "p.(Pro476Leu)" "" "" "0000993498" "00025349" "30" "12119" "0" "12119" "0" "c.*10655C>T" "r.(=)" "p.(=)" "" "" "0000993498" "00021671" "30" "1697" "0" "1697" "0" "c.1697C>T" "r.(?)" "p.(Thr566Met)" "" "" "0000993499" "00025349" "50" "15502" "0" "15502" "0" "c.*14038G>T" "r.(=)" "p.(=)" "" "" "0000993499" "00021671" "50" "1757" "0" "1757" "0" "c.1757G>T" "r.(?)" "p.(Ser586Ile)" "" "" "0000993500" "00025349" "90" "15759" "0" "15759" "0" "c.*14295C>T" "r.(=)" "p.(=)" "" "" "0000993500" "00021671" "90" "2014" "0" "2014" "0" "c.2014C>T" "r.(?)" "p.(Gln672*)" "" "" "0001024755" "00025349" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Cys308Tyr)" "" "" "0001024755" "00021671" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Cys308Tyr)" "" "" "0001033860" "00025349" "30" "10623" "0" "10623" "0" "c.*9159C>T" "r.(=)" "p.(=)" "" "" "0001033860" "00021671" "30" "1508" "-3" "1508" "-3" "c.1508-3C>T" "r.spl?" "p.?" "" "" "0001033861" "00025349" "50" "15579" "0" "15581" "0" "c.*14115_*14117del" "r.(=)" "p.(=)" "" "" "0001033861" "00021671" "50" "1834" "0" "1836" "0" "c.1834_1836del" "r.(?)" "p.(Ser612del)" "" "" "0001045897" "00025349" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266Gln)" "" "" "0001045897" "00021671" "90" "797" "0" "797" "0" "c.797G>A" "r.(?)" "p.(Arg266Gln)" "" "" "0001051609" "00025349" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Cys95Tyr)" "" "" "0001051609" "00021671" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Cys95Tyr)" "" "" "0001051610" "00025349" "50" "7832" "0" "7832" "0" "c.*6368C>A" "r.(=)" "p.(=)" "" "" "0001051610" "00021671" "50" "1502" "0" "1502" "0" "c.1502C>A" "r.(?)" "p.(Ala501Asp)" "" "" "0001051611" "00025349" "50" "15559" "0" "15559" "0" "c.*14095G>A" "r.(=)" "p.(=)" "" "" "0001051611" "00021671" "50" "1814" "0" "1814" "0" "c.1814G>A" "r.(?)" "p.(Arg605Gln)" "" "" "0001051612" "00025349" "50" "15613" "0" "15613" "0" "c.*14149C>T" "r.(=)" "p.(=)" "" "" "0001051612" "00021671" "50" "1868" "0" "1868" "0" "c.1868C>T" "r.(?)" "p.(Ala623Val)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{variantid}}" "0000100595" "0000168990" "0000166076" "0000369939" "0000209642" "0000439803" "0000209643" "0000439807" "0000209647" "0000439808" "0000209677" "0000439892" "0000209678" "0000439897" "0000209682" "0000439898" "0000209803" "0000440016" "0000209818" "0000440038" "0000209819" "0000440039" "0000209820" "0000440040" "0000209821" "0000440041" "0000209822" "0000440042" "0000209823" "0000440043" "0000209824" "0000440044" "0000210104" "0000441306" "0000210105" "0000441307" "0000210106" "0000441308" "0000232093" "0000474408" "0000232094" "0000474409" "0000232095" "0000474410" "0000236407" "0000480111" "0000287348" "0000643138" "0000294464" "0000651153" "0000306071" "0000669759" "0000332803" "0000730085" "0000420929" "0000881288" "0000428985" "0000908392"