### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PADI3) # 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}}" "PADI3" "peptidyl arginine deiminase, type III" "1" "p36.13" "unknown" "NG_052788.1" "UD_132455647972" "" "https://www.LOVD.nl/PADI3" "" "1" "18337" "51702" "606755" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-02 16:00:40" "00000" "2024-02-26 20:06:56" ## 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}}" "00015594" "PADI3" "peptidyl arginine deiminase, type III" "001" "NM_016233.2" "" "NP_057317.2" "" "" "" "-40" "3149" "1995" "17575593" "17610728" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "05273" "UHS" "hair, uncombable syndrome (UHS)" "" "" "hair" "" "" "00006" "2017-06-02 10:12:29" "00006" "2021-12-10 21:51:32" "05274" "UHS1" "hair, uncombable syndrome, type 1 (UHS-1)" "AR" "191480" "hair" "" "" "00006" "2017-06-02 10:13:31" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PADI3" "05273" "PADI3" "05274" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00104871" "" "" "" "2" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "27866708-Fam1Pat1/2" "00104872" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Denmark" "" "0" "" "" "" "27866708-Pat2" "00104873" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Germany" "" "0" "" "" "" "27866708-Pat3" "00104874" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Spain" "" "0" "" "" "" "27866708-Pat4" "00104875" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Germany" "" "0" "" "" "" "27866708-Pat5" "00104876" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Germany" "" "0" "" "" "" "27866708-Pat6" "00104877" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Germany" "" "0" "" "" "" "27866708-Pat7" "00104878" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "" "" "" "Germany" "" "0" "" "" "" "27866708-Pat8" "00104879" "" "" "" "1" "" "00006" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Switzerland" "" "0" "" "" "" "27866708-Pat9" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00104871" "05273" "00104872" "05273" "00104873" "05273" "00104874" "05273" "00104875" "05273" "00104876" "05273" "00104877" "05273" "00104878" "05273" "00104879" "05273" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05273, 05274 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000082763" "05273" "00104871" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082764" "05273" "00104872" "00006" "Familial, autosomal recessive" "3y" "see paper; … , abnormal hair" "" "" "" "" "" "" "" "" "0000082765" "05273" "00104873" "00006" "Familial, autosomal recessive" "8y" "see paper; … , unimproved wiry hair, blond, lusterless hair, closely cropped, irregularly stuck out from scalp growing in lots of different directions, hair originating froa congenital melanocytic nevue right temporal side scalp darkerand structurally normal (no signs uncombability)" "" "" "" "" "" "" "" "" "0000082766" "05273" "00104874" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082767" "05273" "00104875" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082768" "05273" "00104876" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082769" "05273" "00104877" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082770" "05273" "00104878" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082771" "05273" "00104879" "00006" "Familial, autosomal recessive" "1y6m" "see paper; …" "" "" "" "" "" "" "" "" "0000082772" "05273" "00104879" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "0000082773" "05273" "00104879" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105345" "00104871" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000105346" "00104872" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000105347" "00104873" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" "0000105348" "00104874" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" "0000105349" "00104875" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" "0000105350" "00104876" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" "0000105351" "00104877" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" "0000105352" "00104878" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" "0000105353" "00104879" "1" "00006" "00006" "2017-06-01 21:27:48" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000105345" "PADI3" "0000105346" "PADI3" "0000105347" "PADI3" "0000105348" "PADI3" "0000105349" "PADI3" "0000105350" "PADI3" "0000105351" "PADI3" "0000105352" "PADI3" "0000105353" "PADI3" ## 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 = 33 "{{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}}" "0000170693" "2" "90" "1" "17607262" "17607262" "subst" "0" "00006" "PADI3_000001" "g.17607262A>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM190370:0002}" "" "" "" "Germline" "" "" "0" "" "" "g.17280767A>T" "" "pathogenic" "" "0000170694" "2" "90" "1" "17609392" "17609392" "subst" "0.000452172" "00006" "PADI3_000002" "g.17609392C>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0003}" "" "" "" "Germline" "" "rs144944758" "0" "" "" "g.17282897C>A" "" "pathogenic" "" "0000170695" "2" "90" "1" "17609392" "17609392" "subst" "0.000452172" "00006" "PADI3_000002" "g.17609392C>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0003}" "" "" "" "Germline" "" "rs144944758" "0" "" "" "g.17282897C>A" "" "pathogenic" "" "0000170696" "3" "90" "1" "17588689" "17588689" "subst" "0.00447045" "00006" "PADI3_000003" "g.17588689T>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0002}" "" "" "" "Germline" "" "rs142129409" "0" "" "" "g.17262194T>A" "" "pathogenic" "" "0000170697" "1" "90" "1" "17588689" "17588689" "subst" "0.00447045" "00006" "PADI3_000003" "g.17588689T>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0002}" "" "" "" "Germline" "" "rs142129409" "0" "" "" "g.17262194T>A" "" "pathogenic" "" "0000170698" "2" "90" "1" "17588689" "17588689" "subst" "0.00447045" "00006" "PADI3_000003" "g.17588689T>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM190370:0002}" "" "" "" "Germline" "" "rs142129409" "0" "" "" "g.17262194T>A" "" "pathogenic" "" "0000170699" "2" "90" "1" "17588689" "17588689" "subst" "0.00447045" "00006" "PADI3_000003" "g.17588689T>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0002}" "" "" "" "Germline" "" "rs142129409" "0" "" "" "g.17262194T>A" "" "pathogenic" "" "0000170700" "2" "90" "1" "17588689" "17588689" "subst" "0.00447045" "00006" "PADI3_000003" "g.17588689T>A" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0002}" "" "" "" "Germline" "" "rs142129409" "0" "" "" "g.17262194T>A" "" "pathogenic" "" "0000170701" "3" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000170702" "3" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000170703" "1" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000170704" "1" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000170705" "1" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000170706" "1" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000170707" "1" "90" "1" "17597423" "17597423" "subst" "0.00683524" "00006" "PADI3_000004" "g.17597423C>T" "" "{PMID:Basmanav 2016:27866708}, {DOI:Basmanav 2016:10.1016/j.ajhg.2016.10.004}, {OMIM191480:0001}" "" "" "" "Germline" "" "rs144080386" "0" "" "" "g.17270928C>T" "" "pathogenic" "" "0000504326" "0" "90" "1" "17588689" "17588689" "subst" "0.00447045" "01804" "PADI3_000003" "g.17588689T>A" "" "" "" "PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17262194T>A" "" "pathogenic" "" "0000504327" "0" "70" "1" "17588689" "17588689" "subst" "0.00447045" "02327" "PADI3_000003" "g.17588689T>A" "" "" "" "PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17262194T>A" "" "likely pathogenic" "" "0000504329" "0" "90" "1" "17597423" "17597423" "subst" "0.00683524" "02326" "PADI3_000004" "g.17597423C>T" "" "" "" "PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17270928C>T" "" "pathogenic" "" "0000504330" "0" "50" "1" "17609384" "17609384" "subst" "0" "01804" "PADI3_000005" "g.17609384C>G" "" "" "" "PADI3(NM_016233.2):c.1805C>G (p.(Pro602Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17282889C>G" "" "VUS" "" "0000504331" "0" "50" "1" "17609385" "17609385" "del" "0" "01804" "PADI3_000006" "g.17609385del" "" "" "" "PADI3(NM_016233.2):c.1804delC (p.(Phe603LeufsTer88))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17282890del" "" "VUS" "" "0000504332" "0" "90" "1" "17609392" "17609392" "subst" "0.000452172" "01804" "PADI3_000002" "g.17609392C>A" "" "" "" "PADI3(NM_016233.2):c.1813C>A (p.(Pro605Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17282897C>A" "" "pathogenic" "" "0000605001" "0" "70" "1" "17588689" "17588689" "subst" "0.00447045" "02325" "PADI3_000003" "g.17588689T>A" "" "" "" "PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17262194T>A" "" "likely pathogenic" "" "0000605002" "0" "50" "1" "17601181" "17601181" "subst" "0" "02325" "PADI3_000008" "g.17601181G>C" "" "" "" "PADI3(NM_016233.2):c.1207G>C (p.G403R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17274686G>C" "" "VUS" "" "0000620444" "0" "90" "1" "17596796" "17596796" "del" "0" "01943" "PADI3_000007" "g.17596796del" "" "" "" "PADI3(NM_016233.2):c.721delC (p.R241Afs*58)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17270301del" "" "pathogenic" "" "0000798919" "0" "90" "1" "17597423" "17597423" "subst" "0.00683524" "02325" "PADI3_000004" "g.17597423C>T" "" "" "" "PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000848399" "0" "70" "1" "17588689" "17588689" "subst" "0.00447045" "01943" "PADI3_000003" "g.17588689T>A" "" "" "" "PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000910849" "0" "50" "1" "17597398" "17597398" "subst" "0.00262758" "02325" "PADI3_000010" "g.17597398A>G" "" "" "" "PADI3(NM_016233.2):c.856A>G (p.T286A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000960653" "0" "90" "1" "17588689" "17588689" "subst" "0.00447045" "02329" "PADI3_000003" "g.17588689T>A" "" "" "" "PADI3(NM_016233.2):c.335T>A (p.L112H, p.(Leu112His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000960654" "0" "90" "1" "17597423" "17597423" "subst" "0.00683524" "02329" "PADI3_000004" "g.17597423C>T" "" "" "" "PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000990567" "0" "50" "1" "17597423" "17597423" "subst" "0.00683524" "01804" "PADI3_000004" "g.17597423C>T" "" "" "" "PADI3(NM_016233.2):c.881C>T (p.(Ala294Val), p.A294V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990568" "0" "70" "1" "17599930" "17599930" "subst" "0.000256797" "01804" "PADI3_000011" "g.17599930C>A" "" "" "" "PADI3(NM_016233.2):c.1143C>A (p.(Tyr381*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000990569" "0" "30" "1" "17603075" "17603075" "subst" "0.00221756" "01804" "PADI3_000012" "g.17603075C>T" "" "" "" "PADI3(NM_016233.2):c.1369C>T (p.(Pro457Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990570" "0" "30" "1" "17609464" "17609464" "subst" "7.72194E-5" "01804" "PADI3_000013" "g.17609464A>G" "" "" "" "PADI3(NM_016233.2):c.1885A>G (p.(Thr629Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PADI3 ## Count = 33 "{{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}}" "0000170693" "00015594" "90" "1732" "0" "1732" "0" "c.1732A>T" "r.(?)" "p.(Lys578*)" "15" "0000170694" "00015594" "90" "1813" "0" "1813" "0" "c.1813C>A" "r.(?)" "p.(Pro605Thr)" "16" "0000170695" "00015594" "90" "1813" "0" "1813" "0" "c.1813C>A" "r.(?)" "p.(Pro605Thr)" "16" "0000170696" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "3" "0000170697" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "3" "0000170698" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "3" "0000170699" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "3" "0000170700" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "3" "0000170701" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000170702" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000170703" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000170704" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000170705" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000170706" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000170707" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "8" "0000504326" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "" "0000504327" "00015594" "70" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "" "0000504329" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "" "0000504330" "00015594" "50" "1805" "0" "1805" "0" "c.1805C>G" "r.(?)" "p.(Pro602Arg)" "" "0000504331" "00015594" "50" "1806" "0" "1806" "0" "c.1806del" "r.(?)" "p.(Phe603LeufsTer88)" "" "0000504332" "00015594" "90" "1813" "0" "1813" "0" "c.1813C>A" "r.(?)" "p.(Pro605Thr)" "" "0000605001" "00015594" "70" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "" "0000605002" "00015594" "50" "1207" "0" "1207" "0" "c.1207G>C" "r.(?)" "p.(Gly403Arg)" "" "0000620444" "00015594" "90" "721" "0" "721" "0" "c.721del" "r.(?)" "p.(Arg241AlafsTer58)" "" "0000798919" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "" "0000848399" "00015594" "70" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "" "0000910849" "00015594" "50" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Thr286Ala)" "" "0000960653" "00015594" "90" "335" "0" "335" "0" "c.335T>A" "r.(?)" "p.(Leu112His)" "" "0000960654" "00015594" "90" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "" "0000990567" "00015594" "50" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Ala294Val)" "" "0000990568" "00015594" "70" "1143" "0" "1143" "0" "c.1143C>A" "r.(?)" "p.(Tyr381*)" "" "0000990569" "00015594" "30" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Pro457Ser)" "" "0000990570" "00015594" "30" "1885" "0" "1885" "0" "c.1885A>G" "r.(?)" "p.(Thr629Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000105345" "0000170701" "0000105346" "0000170702" "0000105347" "0000170696" "0000105348" "0000170698" "0000105348" "0000170703" "0000105349" "0000170699" "0000105349" "0000170704" "0000105350" "0000170700" "0000105350" "0000170705" "0000105351" "0000170694" "0000105351" "0000170706" "0000105352" "0000170695" "0000105352" "0000170697" "0000105353" "0000170693" "0000105353" "0000170707"