### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TPRN) # 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}}" "TPRN" "taperin" "9" "q34.3" "unknown" "NG_027801.1" "UD_132118255690" "" "http://www.LOVD.nl/TPRN" "" "1" "26894" "286262" "613354" "1" "1" "1" "1" "alias C9ORF75" "" "g" "http://databases.lovd.nl/shared/refseq/TPRN_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-06-22 00:00:00" "00006" "2015-07-20 15:09:36" "00000" "2026-02-20 10:27:03" ## 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}}" "00021708" "TPRN" "taperin" "001" "NM_001128228.2" "" "NP_001121700.2" "" "" "" "1" "2631" "2136" "140095163" "140086069" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "03303" "DFNB79" "deafness, autosomal recessive, type 79 (DFNB-79)" "AR" "613307" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TPRN" "03303" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00043836" "" "" "" "1" "" "01342" "" "DFNA9" "M" "" "Korea, South (Republic)" "" "0" "52" "" "Asian" "" "00043837" "" "" "" "1" "" "01342" "" "DFNA9" "M" "" "Korea, South (Republic)" "" "0" "48" "" "Asian" "" "00046602" "" "" "" "6" "" "00115" "{PMID:Rehman 2010:20170899}, {DOI:Rehman 2010:10.1016/j.ajhg.2010.01.030}, {PMID:Naz 2017:27573290}" "5-generation family, 6 affecteds (F, 5M), unaffected heterozygous carriers parents/sibs" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "PKDF1129/HLRB6" "00046603" "" "" "" "17" "" "00115" "{PMID:Khan 2010:19603065}" "7-generation family, 17 affecteds (5F, 12M), unaffected heterozygous carriers parents/sibs" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00046604" "" "" "" "7" "" "00115" "{PMID:Li 2010:20170898}, {DOI:Li 2010:10.1016/j.ajhg.2010.02.003}" "5-generation family, 7 affecteds (6F, M), unaffected heterozygous carriers parents/sibs" "" "yes" "Morocco" "" "0" "" "" "Moroccan" "" "00046605" "" "" "" "4" "" "00115" "{PMID:Khan 2010:19603065}" "4-generation family, 4 affecteds (2F, 2M), unaffected heterozygous carriers parents/sibs" "M" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00046606" "" "" "" "5" "" "00115" "{PMID:Khan 2010:19603065}" "5-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carriers parents/sibs" "" "yes" "Pakistan" "" "0" "" "" "Pakistani" "" "00046607" "" "" "" "2" "" "00115" "{PMID:Li 2010:20170898}, {DOI:Li 2010:10.1016/j.ajhg.2010.02.003}" "2-generation family, 2 affecteds (F, M), unaffected heterozygous carriers parents" "" "" "Netherlands" "" "0" "" "" "Dutch" "" "00059154" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00284146" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284147" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284148" "" "" "" "1" "" "00004" "{PMID:Duzkale 2013:24033266}" "" "" "" "" "" "0" "" "" "" "" "00284149" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00284150" "" "" "" "1" "" "00004" "{PMID:Li 2010:20170898}" "" "" "" "" "" "0" "" "" "" "" "00284151" "" "" "" "1" "" "00004" "{PMID:Rehman 2010:20170899}" "" "" "" "" "" "0" "" "" "" "" "00284152" "" "" "" "1" "" "00004" "{PMID:Rehman 2010:20170899}" "" "" "" "" "" "0" "" "" "" "" "00284153" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "" "" "0" "" "" "" "" "00284154" "" "" "" "1" "" "00004" "{PMID:Rehman 2010:20170899}, {PMID:Li 2010:20170898}" "" "" "" "" "" "0" "" "" "" "" "00284155" "" "" "" "1" "" "00004" "{PMID:Rehman 2010:20170899}, {PMID:Li 2010:20170898}, {PMID:Bashir 2013:23340767}" "" "" "" "" "" "0" "" "" "" "" "00294818" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294819" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327147" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB428-830" "00441163" "" "" "" "11" "" "00006" "{PMID:Richard 2019: 30303587}" "7-generation family, 11 affected (3F, 8M), seggregating two different genetic hearing loss condistions; 1 double affected individual" "M" "yes" "Pakistan" "" "0" "" "" "" "HL007PatVII3" "00441448" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1756" "00441449" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1757" "00441450" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "PKDF1758" "00441460" "" "" "00441163" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "individual (F) seggregating CDH23 associated hearing loss" "" "yes" "Pakistan" "" "0" "" "" "" "HL007" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00043836" "00350" "00043837" "00350" "00046602" "03303" "00046603" "03303" "00046604" "03303" "00046605" "03303" "00046606" "03303" "00046607" "03303" "00059154" "00531" "00284149" "05103" "00284150" "05103" "00284151" "05103" "00284152" "05103" "00284153" "05103" "00284154" "05103" "00284155" "05103" "00294818" "00198" "00294819" "00198" "00327147" "05086" "00441163" "05086" "00441448" "05086" "00441449" "05086" "00441450" "05086" "00441460" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00350, 00531, 03303, 05086, 05103 ## Count = 20 "{{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}}" "0000034055" "00350" "00043837" "01342" "Familial, autosomal dominant" "48y" "DFNA9" "48y" "" "" "" "" "" "" "" "" "" "" "0000034056" "00350" "00043836" "01342" "Familial, autosomal dominant" "52y" "DFNA9" "52y" "" "" "" "" "" "" "" "" "" "" "0000034284" "03303" "00046602" "00115" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000034285" "03303" "00046603" "00115" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000034286" "03303" "00046604" "00115" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000034287" "03303" "00046605" "00115" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000034288" "03303" "00046606" "00115" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000034289" "03303" "00046607" "00115" "Isolated (sporadic)" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "" "0000218472" "05103" "00284149" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 79" "deafness, autosomal recessive, non-syndromic" "" "0000218473" "05103" "00284150" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218474" "05103" "00284151" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218475" "05103" "00284152" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218476" "05103" "00284153" "00008" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "type 79" "deafness, autosomal recessive, non-syndromic" "" "0000218477" "05103" "00284154" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000218478" "05103" "00284155" "00008" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "deafness, non-syndromic" "" "0000330603" "05086" "00441163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330888" "05086" "00441448" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330889" "05086" "00441449" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330890" "05086" "00441450" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330900" "05086" "00441460" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000044081" "00043836" "1" "01342" "01342" "2015-06-25 14:06:37" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000044084" "00043837" "1" "01342" "01342" "2015-06-25 14:14:26" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000046711" "00046602" "1" "00115" "00115" "2010-06-22 16:57:10" "" "" "SEQ" "DNA" "" "" "0000046712" "00046603" "1" "00115" "00115" "2010-06-22 16:57:10" "" "" "SEQ" "DNA" "" "" "0000046713" "00046604" "1" "00115" "00115" "2010-06-22 16:57:10" "" "" "SEQ" "DNA" "" "" "0000046714" "00046605" "1" "00115" "00115" "2010-06-22 16:57:10" "" "" "SEQ" "DNA" "" "" "0000046715" "00046606" "1" "00115" "00115" "2010-06-22 16:57:10" "" "" "SEQ" "DNA" "" "" "0000046716" "00046607" "1" "00115" "00115" "2010-06-22 16:57:10" "" "" "SEQ" "DNA" "" "" "0000064761" "00059154" "1" "00006" "00006" "2016-04-30 16:44:13" "" "" "MAQ" "DNA" "" "" "0000285296" "00284146" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285297" "00284147" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285298" "00284148" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285299" "00284149" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285300" "00284150" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285301" "00284151" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285302" "00284152" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285303" "00284153" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285304" "00284154" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000285305" "00284155" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000295986" "00294818" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295987" "00294819" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328359" "00327147" "1" "03611" "03611" "2021-01-20 09:03:05" "" "" "SEQ-NG-I" "DNA" "" "" "0000442649" "00441163" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442934" "00441448" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442935" "00441449" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442936" "00441450" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442946" "00441460" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{geneid}}" "0000044081" "COCH" "0000044084" "COCH" "0000046711" "TPRN" "0000046712" "TPRN" "0000046713" "TPRN" "0000046714" "TPRN" "0000046715" "TPRN" "0000046716" "TPRN" "0000064761" "DIABLO" "0000064761" "TPRN" "0000285296" "TPRN" "0000285297" "TPRN" "0000285298" "TPRN" "0000285299" "TPRN" "0000285300" "TPRN" "0000285301" "TPRN" "0000285302" "TPRN" "0000285303" "TPRN" "0000285304" "TPRN" "0000285305" "TPRN" ## 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 = 64 "{{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}}" "0000071897" "0" "10" "9" "140094935" "140094935" "subst" "0" "01342" "TPRN_000006" "g.140094935C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.137200483C>T" "" "benign" "" "0000071899" "0" "10" "9" "140094935" "140094935" "subst" "0" "01342" "TPRN_000006" "g.140094935C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "g.137200483C>T" "" "benign" "" "0000074851" "3" "90" "9" "140094948" "140094958" "del" "0" "00115" "TPRN_000004" "g.140094948_140094958del" "" "{PMID:Rehman 2010:20170899}, {DOI:Rehman 2010:10.1016/j.ajhg.2010.01.030}, {PMID:Naz 2017:27573290}" "" "42_52del11" "not in 888 control chromosomes" "Germline" "yes" "" "0" "" "" "g.137200496_137200506del" "" "pathogenic (recessive)" "" "0000074852" "3" "90" "9" "140094928" "140094938" "dup" "0" "00115" "TPRN_000001" "g.140094928_140094938dup" "" "{PMID:Rehman 2010:20170899}, {DOI:Rehman 2010:10.1016/j.ajhg.2010.01.030}" "" "c.44_54dup" "not in 888 control chromosomes" "Germline" "yes" "" "0" "" "" "g.137200476_137200486dup" "" "pathogenic" "" "0000074853" "3" "90" "9" "140094948" "140094958" "del" "0" "00115" "TPRN_000004" "g.140094948_140094958del" "" "{PMID:Li 2010:20170898}, {DOI:Li 2010:10.1016/j.ajhg.2010.02.003}" "" "c.42_52del (Gly15AlafsX150)" "not in 280 control chromosomes" "Germline" "yes" "" "0" "" "" "g.137200496_137200506del" "" "pathogenic" "" "0000074854" "3" "90" "9" "140093925" "140093925" "subst" "0" "00115" "TPRN_000003" "g.140093925C>T" "" "{PMID:Rehman 2010:20170899}, {DOI:Rehman 2010:10.1016/j.ajhg.2010.01.030}" "" "c.1056G>A (W352X)" "not in 900 control chromosomes" "Germline" "yes" "" "0" "" "" "g.137199473C>T" "" "pathogenic" "" "0000074855" "3" "90" "9" "140093739" "140093739" "del" "0" "00115" "TPRN_000002" "g.140093739del" "" "{PMID:Rehman 2010:20170899}, {DOI:Rehman 2010:10.1016/j.ajhg.2010.01.030}" "" "c.1244delC" "not in 900 control chromosomes" "Germline" "yes" "" "0" "" "" "g.137199287del" "" "pathogenic" "" "0000074856" "3" "90" "9" "140093636" "140093636" "del" "0" "00115" "TPRN_000005" "g.140093636del" "" "{PMID:Li 2010:20170898}, {DOI:Li 2010:10.1016/j.ajhg.2010.02.003}" "" "c.1347delG (Thr450LeufsX32)" "not in 320 control chromosomes" "Germline" "yes" "" "0" "" "" "g.137199184del" "" "pathogenic" "" "0000096184" "3" "30" "9" "140086563" "140095163" "dup" "0" "00006" "TPRN_000007" "g.140086563_140095163dup" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "association variant with phenotype not analysed\r\nVariant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000316986" "0" "30" "9" "140093903" "140093903" "subst" "0.00136636" "01943" "TPRN_000011" "g.140093903G>A" "" "" "" "TPRN(NM_001128228.3):c.1261C>T (p.P421S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137199451G>A" "" "likely benign" "" "0000316987" "0" "30" "9" "140087150" "140087150" "subst" "0.00020159" "01943" "TPRN_000010" "g.140087150G>A" "" "" "" "TPRN(NM_001128228.3):c.1726-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137192698G>A" "" "likely benign" "" "0000316988" "0" "30" "9" "140087121" "140087121" "subst" "0.00319612" "01943" "TPRN_000009" "g.140087121T>C" "" "" "" "TPRN(NM_001128228.3):c.1748A>G (p.K583R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137192669T>C" "" "likely benign" "" "0000316990" "0" "50" "9" "140094890" "140094890" "subst" "0" "01943" "TPRN_000014" "g.140094890G>A" "" "" "" "TPRN(NM_001128228.3):c.274C>T (p.L92F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137200438G>A" "" "VUS" "" "0000316991" "0" "30" "9" "140094501" "140094501" "subst" "0" "01943" "TPRN_000013" "g.140094501G>T" "" "" "" "TPRN(NM_001128228.3):c.663C>A (p.L221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137200049G>T" "" "likely benign" "" "0000316992" "0" "30" "9" "140094495" "140094495" "subst" "0.000221685" "01943" "TPRN_000012" "g.140094495G>A" "" "" "" "TPRN(NM_001128228.3):c.669C>T (p.N223=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137200043G>A" "" "likely benign" "" "0000341235" "0" "10" "9" "140094605" "140094605" "subst" "0.282209" "02327" "TPRN_000018" "g.140094605C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137200153C>A" "" "benign" "" "0000344853" "0" "70" "9" "140093767" "140093767" "dup" "0" "02327" "TPRN_000016" "g.140093767dup" "" "" "" "TPRN(NM_001128228.3):c.1402dupC (p.Q468Pfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137199315dup" "" "likely pathogenic" "" "0000349743" "0" "90" "9" "140094420" "140094420" "subst" "5.04147E-5" "02327" "TPRN_000017" "g.140094420C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.137199968C>T" "" "pathogenic" "" "0000537553" "0" "10" "9" "140087050" "140087052" "del" "0" "02325" "ANAPC2_000002" "g.140087050_140087052del" "" "" "" "TPRN(NM_001128228.3):c.1842_1844del (p.(Glu621del)), TPRN(NM_001128228.3):c.1842_1844delGGA (p.E621del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137192598_137192600del" "" "benign" "" "0000537554" "0" "10" "9" "140087050" "140087052" "dup" "0" "01943" "ANAPC2_000003" "g.140087050_140087052dup" "" "" "" "TPRN(NM_001128228.3):c.1842_1844dupGGA (p.E621dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137192598_137192600dup" "" "benign" "" "0000537556" "0" "50" "9" "140093585" "140093585" "subst" "0.000244413" "01943" "TMEM203_000001" "g.140093585G>A" "" "" "" "TPRN(NM_001128228.3):c.1579C>T (p.R527W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137199133G>A" "" "VUS" "" "0000537557" "0" "50" "9" "140093591" "140093591" "subst" "0.000618973" "01943" "TMEM203_000002" "g.140093591G>A" "" "" "" "TPRN(NM_001128228.3):c.1573C>T (p.R525W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137199139G>A" "" "VUS" "" "0000537559" "0" "50" "9" "140094259" "140094259" "subst" "0.000150953" "01943" "TMEM203_000004" "g.140094259G>T" "" "" "" "TPRN(NM_001128228.3):c.905C>A (p.A302D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137199807G>T" "" "VUS" "" "0000537560" "0" "50" "9" "140094509" "140094509" "subst" "0.00101506" "02327" "TMEM203_000005" "g.140094509G>T" "" "" "" "TPRN(NM_001128228.3):c.655C>A (p.R219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137200057G>T" "" "VUS" "" "0000537561" "0" "30" "9" "140094935" "140094935" "subst" "0" "01943" "TPRN_000006" "g.140094935C>T" "" "" "" "TPRN(NM_001128228.3):c.229G>A (p.A77T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137200483C>T" "" "likely benign" "" "0000537562" "0" "30" "9" "140095048" "140095048" "subst" "0" "01943" "TMEM203_000006" "g.140095048G>A" "" "" "" "TPRN(NM_001128228.3):c.116C>T (p.P39L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137200596G>A" "" "likely benign" "" "0000622234" "0" "90" "9" "140093767" "140093767" "dup" "0" "01943" "TPRN_000016" "g.140093767dup" "" "" "" "TPRN(NM_001128228.3):c.1402dupC (p.Q468Pfs*68)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.137199315dup" "" "pathogenic" "" "0000641038" "1" "33" "9" "140086727" "140086727" "subst" "2.4496E-5" "00004" "TPRN_000020" "g.140086727G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137192275G>A" "" "likely benign" "" "0000641039" "1" "11" "9" "140087024" "140087026" "del" "0" "00004" "TPRN_000021" "g.140087024_140087026del" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137192572_137192574del" "" "benign" "" "0000641040" "1" "33" "9" "140087126" "140087126" "subst" "8.62912E-5" "00004" "TPRN_000022" "g.140087126G>A" "" "{DB:DVD}, {PMID:Duzkale 2013:24033266}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137192674G>A" "" "likely benign" "" "0000641041" "1" "99" "9" "140093434" "140093434" "subst" "2.0428E-5" "00004" "TPRN_000023" "g.140093434C>T" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137198982C>T" "" "pathogenic" "" "0000641042" "1" "99" "9" "140093636" "140093636" "del" "0" "00004" "TPRN_000024" "g.140093636del" "" "{DB:DVD}, {PMID:Li 2010:20170898}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137199184del" "" "pathogenic" "" "0000641043" "1" "99" "9" "140093739" "140093739" "del" "0" "00004" "TPRN_000025" "g.140093739del" "" "{DB:DVD}, {PMID:Rehman 2010:20170899}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137199287del" "" "pathogenic" "" "0000641044" "1" "99" "9" "140093925" "140093925" "subst" "0" "00004" "TPRN_000003" "g.140093925C>T" "" "{DB:DVD}, {PMID:Rehman 2010:20170899}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137199473C>T" "" "pathogenic" "" "0000641045" "1" "99" "9" "140094222" "140094222" "dup" "0" "00004" "TPRN_000026" "g.140094222dup" "" "{DB:DVD}, {PMID:Sloan-Heggen 2016:26969326}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137199770dup" "" "pathogenic" "" "0000641046" "1" "99" "9" "140094928" "140094938" "dup" "0" "00004" "TPRN_000027" "g.140094928_140094938dup" "" "{DB:DVD}, {PMID:Rehman 2010:20170899}, {PMID:Li 2010:20170898}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137200476_137200486dup" "" "pathogenic" "" "0000641047" "1" "99" "9" "140094948" "140094958" "del" "0" "00004" "TPRN_000028" "g.140094948_140094958del" "" "{DB:DVD}, {PMID:Rehman 2010:20170899}, {PMID:Li 2010:20170898}, {PMID:Bashir 2013:23340767}" "" "" "" "SUMMARY record" "" "" "0" "" "" "g.137200496_137200506del" "" "pathogenic" "" "0000652675" "1" "30" "9" "140087121" "140087121" "subst" "0.00319612" "03575" "TPRN_000009" "g.140087121T>C" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs139459217}" "Germline" "" "rs139459217" "0" "" "" "g.137192669T>C" "" "likely benign" "" "0000652676" "1" "30" "9" "140094273" "140094273" "subst" "0.00188405" "03575" "TPRN_000029" "g.140094273G>C" "4/2757 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs147404722}" "Germline" "" "rs147404722" "0" "" "" "g.137199821G>C" "" "likely benign" "" "0000678624" "0" "50" "9" "140094509" "140094509" "subst" "0.00101506" "01943" "TMEM203_000005" "g.140094509G>T" "" "" "" "TPRN(NM_001128228.3):c.655C>A (p.R219S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000712302" "0" "50" "9" "140094988" "140094988" "subst" "0" "03611" "TPRN_000030" "g.140094988T>C" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2, PM3_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.137200536T>C" "" "VUS" "ACMG" "0000722429" "0" "50" "9" "140086761" "140086761" "subst" "0.000683474" "01943" "ANAPC2_000005" "g.140086761C>T" "" "" "" "TPRN(NM_001128228.3):c.2023G>A (p.A675T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722430" "0" "90" "9" "140094948" "140094958" "del" "0" "01943" "TPRN_000004" "g.140094948_140094958del" "" "" "" "TPRN(NM_001128228.3):c.225_235del (p.(Gly76Alafs*150)), TPRN(NM_001128228.3):c.225_235delGGGGGCGCGGC (p.G76Afs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000804016" "0" "30" "9" "140093496" "140093496" "subst" "8.141E-5" "01943" "TPRN_000031" "g.140093496G>A" "" "" "" "TPRN(NM_001128228.3):c.1668C>T (p.G556=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804017" "0" "30" "9" "140093764" "140093764" "subst" "1.634E-5" "01943" "TMEM203_000007" "g.140093764G>C" "" "" "" "TPRN(NM_001128228.3):c.1400C>G (p.P467R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804018" "0" "30" "9" "140094341" "140094341" "subst" "0" "01943" "TMEM203_000008" "g.140094341G>T" "" "" "" "TPRN(NM_001128228.3):c.823C>A (p.P275T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000804019" "0" "50" "9" "140094377" "140094377" "subst" "0" "01943" "TMEM203_000009" "g.140094377G>C" "" "" "" "TPRN(NM_001128228.3):c.787C>G (p.P263A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000944261" "3" "90" "9" "140094108" "140094108" "subst" "0" "00006" "TPRN_000032" "g.140094108C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.137199656C>T" "" "pathogenic (recessive)" "" "0000944262" "3" "90" "9" "140094108" "140094108" "subst" "0" "00006" "TPRN_000032" "g.140094108C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.137199656C>T" "" "pathogenic (recessive)" "" "0000944263" "3" "90" "9" "140094108" "140094108" "subst" "0" "00006" "TPRN_000032" "g.140094108C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.137199656C>T" "" "pathogenic (recessive)" "" "0000944273" "3" "90" "9" "140094108" "140094108" "subst" "0" "00006" "TPRN_000032" "g.140094108C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.137199656C>T" "" "pathogenic (recessive)" "" "0000944276" "3" "90" "9" "140094108" "140094108" "subst" "0" "00006" "TPRN_000032" "g.140094108C>T" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.137199656C>T" "" "pathogenic (recessive)" "" "0000960217" "0" "50" "9" "140094935" "140094935" "subst" "0" "00006" "TPRN_000006" "g.140094935C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PM2_P, PM3_P, BP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.137200483C>T" "" "VUS" "" "0000978590" "0" "90" "9" "140094948" "140094958" "del" "0" "01804" "TPRN_000004" "g.140094948_140094958del" "" "" "" "TPRN(NM_001128228.3):c.225_235del (p.(Gly76Alafs*150)), TPRN(NM_001128228.3):c.225_235delGGGGGCGCGGC (p.G76Afs*150)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997726" "0" "30" "9" "140082356" "140082356" "subst" "0.000707421" "01804" "ANAPC2_000011" "g.140082356T>C" "" "" "" "ANAPC2(NM_013366.3):c.317A>G (p.(Gln106Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997727" "0" "30" "9" "140082416" "140082416" "subst" "6.52901E-5" "01804" "ANAPC2_000012" "g.140082416T>C" "" "" "" "ANAPC2(NM_013366.3):c.257A>G (p.(Asn86Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997728" "0" "30" "9" "140082480" "140082480" "subst" "0.000193091" "01804" "ANAPC2_000013" "g.140082480G>A" "" "" "" "ANAPC2(NM_013366.3):c.193C>T (p.(His65Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997729" "0" "30" "9" "140095118" "140095118" "subst" "0" "01804" "TMEM203_000010" "g.140095118G>A" "" "" "" "TPRN(NM_001128228.2):c.46C>T (p.(Pro16Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997730" "0" "50" "9" "140099602" "140099602" "dup" "0" "01804" "NDOR1_000003" "g.140099602dup" "" "" "" "TMEM203(NM_053045.1):c.265dupA (p.(Thr89fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037373" "0" "10" "9" "140087050" "140087052" "del" "0" "01804" "ANAPC2_000002" "g.140087050_140087052del" "" "" "" "TPRN(NM_001128228.3):c.1842_1844del (p.(Glu621del)), TPRN(NM_001128228.3):c.1842_1844delGGA (p.E621del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001037374" "0" "30" "9" "140094490" "140094490" "subst" "1.9972E-5" "01804" "TMEM203_000011" "g.140094490T>G" "" "" "" "TPRN(NM_001128228.3):c.674A>C (p.(His225Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037375" "0" "70" "9" "140095079" "140095079" "subst" "0" "01804" "TMEM203_000012" "g.140095079T>A" "" "" "" "TPRN(NM_001128228.3):c.85A>T (p.(Lys29*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001068419" "0" "30" "9" "140089341" "140089341" "subst" "0" "03779" "chr9_008492" "g.140089341G>A" "" "" "" "" "" "Unknown" "" "rs541684579" "0" "" "" "" "" "likely benign" "" "0001068420" "0" "30" "9" "140089341" "140089341" "subst" "0" "03779" "chr9_008492" "g.140089341G>A" "" "" "" "" "" "Unknown" "" "rs541684579" "0" "" "" "" "" "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 TPRN ## Count = 64 "{{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}}" "0000071897" "00021708" "10" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "1" "0000071899" "00021708" "10" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "1" "0000074851" "00021708" "90" "225" "0" "235" "0" "c.225_235del" "r.(?)" "p.(Gly76Alafs*150)" "1" "0000074852" "00021708" "90" "227" "0" "237" "0" "c.227_237dup" "r.(?)" "p.(Leu80Glyfs*374)" "1" "0000074853" "00021708" "90" "225" "0" "235" "0" "c.225_235del" "r.(?)" "p.(Gly76Alafs*150)" "1" "0000074854" "00021708" "90" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(Trp413*)" "1" "0000074855" "00021708" "90" "1427" "0" "1427" "0" "c.1427del" "r.(?)" "p.(Pro476Argfs*67)" "1" "0000074856" "00021708" "90" "1530" "0" "1530" "0" "c.1530del" "r.(?)" "p.(Thr511Leufs*32)" "1" "0000096184" "00021708" "30" "1" "0" "2137" "0" "c.(?_1)_(*1_?)dup" "r.(=)" "p.(=)" "_1_4_" "0000316986" "00021708" "30" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Pro421Ser)" "" "0000316987" "00021708" "30" "1726" "-7" "1726" "-7" "c.1726-7C>T" "r.(=)" "p.(=)" "" "0000316988" "00021708" "30" "1748" "0" "1748" "0" "c.1748A>G" "r.(?)" "p.(Lys583Arg)" "" "0000316990" "00021708" "50" "274" "0" "274" "0" "c.274C>T" "r.(?)" "p.(Leu92Phe)" "" "0000316991" "00021708" "30" "663" "0" "663" "0" "c.663C>A" "r.(?)" "p.(Leu221=)" "" "0000316992" "00021708" "30" "669" "0" "669" "0" "c.669C>T" "r.(?)" "p.(Asn223=)" "" "0000341235" "00021708" "10" "559" "0" "559" "0" "c.559G>T" "r.(?)" "p.(Ala187Ser)" "" "0000344853" "00021708" "70" "1402" "0" "1402" "0" "c.1402dup" "r.(?)" "p.(Gln468ProfsTer68)" "" "0000349743" "00021708" "90" "744" "0" "744" "0" "c.744G>A" "r.(?)" "p.(Trp248Ter)" "" "0000537553" "00021708" "10" "1842" "0" "1844" "0" "c.1842_1844del" "r.(?)" "p.(Glu621del)" "" "0000537554" "00021708" "10" "1842" "0" "1844" "0" "c.1842_1844dup" "r.(?)" "p.(Glu621dup)" "" "0000537556" "00021708" "50" "1579" "0" "1579" "0" "c.1579C>T" "r.(?)" "p.(Arg527Trp)" "" "0000537557" "00021708" "50" "1573" "0" "1573" "0" "c.1573C>T" "r.(?)" "p.(Arg525Trp)" "" "0000537559" "00021708" "50" "905" "0" "905" "0" "c.905C>A" "r.(?)" "p.(Ala302Asp)" "" "0000537560" "00021708" "50" "655" "0" "655" "0" "c.655C>A" "r.(?)" "p.(Arg219Ser)" "" "0000537561" "00021708" "30" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "" "0000537562" "00021708" "30" "116" "0" "116" "0" "c.116C>T" "r.(?)" "p.(Pro39Leu)" "" "0000622234" "00021708" "90" "1402" "0" "1402" "0" "c.1402dup" "r.(?)" "p.(Gln468ProfsTer68)" "" "0000641038" "00021708" "33" "2057" "0" "2057" "0" "c.2057C>T" "r.(?)" "p.(Pro686Leu)" "3" "0000641039" "00021708" "11" "1845" "0" "1847" "0" "c.1845_1847del" "r.(?)" "p.(Glu621del)" "2" "0000641040" "00021708" "33" "1743" "0" "1743" "0" "c.1743C>T" "r.(=)" "p.(=)" "2" "0000641041" "00021708" "99" "1725" "5" "1725" "5" "c.1725+5G>A" "r.spl?" "p.?" "1i" "0000641042" "00021708" "99" "1530" "0" "1530" "0" "c.1530del" "r.(?)" "p.(Thr511Leufs*32)" "1" "0000641043" "00021708" "99" "1427" "0" "1427" "0" "c.1427del" "r.(?)" "p.(Pro476Argfs*67)" "1" "0000641044" "00021708" "99" "1239" "0" "1239" "0" "c.1239G>A" "r.(?)" "p.(Trp413*)" "1" "0000641045" "00021708" "99" "943" "0" "943" "0" "c.943dup" "r.(?)" "p.(Leu315Profs*32)" "1" "0000641046" "00021708" "99" "227" "0" "237" "0" "c.227_237dup" "r.(?)" "p.(Leu80Glyfs*374)" "1" "0000641047" "00021708" "99" "225" "0" "235" "0" "c.225_235del" "r.(?)" "p.(Gly76Alafs*150)" "1" "0000652675" "00021708" "30" "1748" "0" "1748" "0" "c.1748A>G" "r.(?)" "p.(Lys583Arg)" "" "0000652676" "00021708" "30" "891" "0" "891" "0" "c.891C>G" "r.(?)" "p.(Phe297Leu)" "" "0000678624" "00021708" "50" "655" "0" "655" "0" "c.655C>A" "r.(?)" "p.(Arg219Ser)" "" "0000712302" "00021708" "50" "176" "0" "176" "0" "c.176A>G" "r.(?)" "p.(Asn59Ser)" "" "0000722429" "00021708" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Ala675Thr)" "" "0000722430" "00021708" "90" "225" "0" "235" "0" "c.225_235del" "r.(?)" "p.(Gly76AlafsTer150)" "" "0000804016" "00021708" "30" "1668" "0" "1668" "0" "c.1668C>T" "r.(?)" "p.(Gly556=)" "" "0000804017" "00021708" "30" "1400" "0" "1400" "0" "c.1400C>G" "r.(?)" "p.(Pro467Arg)" "" "0000804018" "00021708" "30" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Pro275Thr)" "" "0000804019" "00021708" "50" "787" "0" "787" "0" "c.787C>G" "r.(?)" "p.(Pro263Ala)" "" "0000944261" "00021708" "90" "1056" "0" "1056" "0" "c.1056G>A" "p.(Trp352*)" "p.(Glu352=)" "" "0000944262" "00021708" "90" "1056" "0" "1056" "0" "c.1056G>A" "p.(Trp352*)" "p.(Glu352=)" "" "0000944263" "00021708" "90" "1056" "0" "1056" "0" "c.1056G>A" "p.(Trp352*)" "p.(Glu352=)" "" "0000944273" "00021708" "90" "1056" "0" "1056" "0" "c.1056G>A" "p.(Trp352*)" "p.(Glu352=)" "" "0000944276" "00021708" "90" "1056" "0" "1056" "0" "c.1056G>A" "p.(Trp352*)" "p.(Glu352=)" "" "0000960217" "00021708" "50" "229" "0" "229" "0" "c.229G>A" "r.(?)" "p.(Ala77Thr)" "" "0000978590" "00021708" "90" "225" "0" "235" "0" "c.225_235del" "r.(?)" "p.(Gly76AlafsTer150)" "" "0000997726" "00021708" "30" "6344" "0" "6344" "0" "c.*4208A>G" "r.(=)" "p.(=)" "" "0000997727" "00021708" "30" "6284" "0" "6284" "0" "c.*4148A>G" "r.(=)" "p.(=)" "" "0000997728" "00021708" "30" "6220" "0" "6220" "0" "c.*4084C>T" "r.(=)" "p.(=)" "" "0000997729" "00021708" "30" "46" "0" "46" "0" "c.46C>T" "r.(?)" "p.(Pro16Ser)" "" "0000997730" "00021708" "50" "-4439" "0" "-4439" "0" "c.-4439dup" "r.(?)" "p.(=)" "" "0001037373" "00021708" "10" "1842" "0" "1844" "0" "c.1842_1844del" "r.(?)" "p.(Glu621del)" "" "0001037374" "00021708" "30" "674" "0" "674" "0" "c.674A>C" "r.(?)" "p.(His225Pro)" "" "0001037375" "00021708" "70" "85" "0" "85" "0" "c.85A>T" "r.(?)" "p.(Lys29*)" "" "0001068419" "00021708" "30" "1726" "-2198" "1726" "-2198" "c.1726-2198C>T" "r.(?)" "p.(?)" "" "0001068420" "00021708" "30" "1726" "-2198" "1726" "-2198" "c.1726-2198C>T" "r.(?)" "p.(?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 28 "{{screeningid}}" "{{variantid}}" "0000044081" "0000071897" "0000044084" "0000071899" "0000046711" "0000074851" "0000046712" "0000074852" "0000046713" "0000074853" "0000046714" "0000074854" "0000046715" "0000074855" "0000046716" "0000074856" "0000064761" "0000096184" "0000285296" "0000641038" "0000285297" "0000641039" "0000285298" "0000641040" "0000285299" "0000641041" "0000285300" "0000641042" "0000285301" "0000641043" "0000285302" "0000641044" "0000285303" "0000641045" "0000285304" "0000641046" "0000285305" "0000641047" "0000295986" "0000652675" "0000295987" "0000652676" "0000328359" "0000712302" "0000328359" "0000960217" "0000442649" "0000944276" "0000442934" "0000944261" "0000442935" "0000944262" "0000442936" "0000944263" "0000442946" "0000944273"