### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAJC12) # 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}}" "DNAJC12" "DnaJ (Hsp40) homolog, subfamily C, member 12" "10" "q21.3" "unknown" "NC_000010.10" "UD_132319331509" "" "https://www.LOVD.nl/DNAJC12" "" "1" "28908" "56521" "606060" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DNAJC12_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-01-06 08:53:54" "00006" "2025-03-10 10:04:03" ## 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}}" "00006564" "DNAJC12" "transcript variant 1" "001" "NM_021800.2" "" "NP_068572.1" "" "" "" "-168" "1044" "597" "69597937" "69556427" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00221" "PKU" "phenylketonuria (PKU)" "AR" "261600" "" "" "" "00006" "2013-10-07 22:30:26" "00006" "2019-11-30 12:07:59" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "05516" "HPANBH4" "hyperphenylalaninemia, mild, non-BH4-deficient (HPANBH4)" "AR" "617384" "" "autosomal recessive" "" "00006" "2018-11-16 15:23:14" "00006" "2020-01-06 08:57:05" "05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58" "05683" "HPA" "hyperphenylalaninemia (HPA)" "AD" "" "" "" "" "00006" "2020-01-06 17:35:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAJC12" "05516" ## Individuals ## Do not remove or alter this header ## ## Count = 33 "{{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}}" "00180961" "" "" "" "1" "" "02568" "{DOI:Gallego 2020:10.1002/humu.24026}" "" "M" "" "Spain" "" "0" "" "" "" "" "00275529" "" "" "" "2" "" "00006" "{PMID:Anikster 2017:28132689}" "4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives" "M" "yes" "Morocco" "" "0" "" "" "" "FamAPatIV2" "00275530" "" "" "00275529" "1" "" "00006" "{PMID:Anikster 2017:28132689}" "" "F" "yes" "Morocco" "" "0" "" "" "" "FamAPatIV4" "00275531" "" "" "" "2" "" "00006" "{PMID:Anikster 2017:28132689}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "" "" "0" "" "" "Arab-Muslim" "FamBPatIV1" "00275532" "" "" "00275531" "1" "" "00006" "{PMID:Anikster 2017:28132689}" "" "M" "yes" "" "" "0" "" "" "Arab-Muslim" "FamBPatIV2" "00275533" "" "" "" "1" "" "00006" "{PMID:Anikster 2017:28132689}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "FamCPatII2" "00275534" "" "" "" "1" "" "00006" "{PMID:Anikster 2017:28132689}" "5-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F" "yes" "Morocco" "" "0" "" "" "" "FamDPatIV1" "00275535" "" "" "" "2" "" "00006" "{PMID:van Spronsen 2017:28794131}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "no" "Netherlands" "" "0" "" "" "white" "FamPat1A" "00275536" "" "" "00275535" "1" "" "00006" "{PMID:van Spronsen 2017:28794131}" "" "F" "no" "Netherlands" "" "0" "" "" "white" "FamPat1B" "00275537" "" "" "" "2" "" "00006" "{PMID:van Spronsen 2017:28794131}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat2A" "00275538" "" "" "00275537" "1" "" "00006" "{PMID:van Spronsen 2017:28794131}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat2B" "00275539" "" "" "" "1" "" "00006" "{PMID:van Spronsen 2017:28794131}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "FamPat3" "00275540" "" "" "" "2" "" "00006" "{PMID:Straniero 2017:28892570}" "2-generation family, affected brother/sister, unaffected parents/relatives" "F;M" "" "Canada" "" "0" "" "" "" "FamA" "00275541" "" "" "" "2" "" "00006" "{PMID:Straniero 2017:28892570}" "2-generation family, affected brother/sister, unaffected parents/relatives" "F;M" "yes" "Italy" "" "0" "" "" "" "FamB" "00275542" "" "" "" "1" "" "00006" "{PMID:de Sain-van der Velden 2018:29380259}" "2-generation family, 2 affected, unaffected parents/relatives" "M" "yes" "Morocco" "" "0" "" "" "" "Pat" "00275543" "" "" "" "2" "" "00006" "{PMID:Veenma 2018:30139987}" "2-generation family, affected brothers, unaffected heterozygous carrier parents" "M" "yes" "Afghanistan" "" "0" "" "" "" "FamPat1" "00275544" "" "" "00275543" "1" "" "00006" "{PMID:Veenma 2018:30139987}" "" "M" "yes" "Afghanistan" "" "0" "" "" "" "FamPat2" "00275880" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275881" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275882" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275883" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275884" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275885" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275886" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275887" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275888" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00275889" "" "" "" "1" "" "00006" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "analysis 1036 individuals with hyperphenylalaninemia" "" "" "Spain" "" "0" "" "" "" "" "00287088" "" "" "" "1" "" "02568" "{DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "" "" "0" "" "" "" "" "00287089" "" "" "" "1" "" "02568" "{DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "" "" "0" "" "" "" "" "00288258" "" "" "" "1" "" "02568" "{DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "" "" "0" "" "" "" "" "00420034" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-55" "00420037" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-58" "00453712" "" "" "" "1" "" "00006" "{PMID:Navarrete 2019:30626930}" "newborn screening" "" "" "Spain" "" "0" "" "" "" "Pat139" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 33 "{{individualid}}" "{{diseaseid}}" "00180961" "05516" "00275529" "05683" "00275530" "05683" "00275531" "05683" "00275532" "05683" "00275533" "05683" "00275534" "05683" "00275535" "05683" "00275536" "05683" "00275537" "05683" "00275538" "05683" "00275539" "05683" "00275540" "05613" "00275541" "05613" "00275542" "05683" "00275543" "05683" "00275544" "05683" "00275880" "05683" "00275881" "05683" "00275882" "05683" "00275883" "05683" "00275884" "05683" "00275885" "05683" "00275886" "05683" "00275887" "05683" "00275888" "05683" "00275889" "05683" "00287088" "05516" "00287089" "05516" "00288258" "05516" "00420034" "00221" "00420037" "00221" "00453712" "02554" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00221, 02554, 05516, 05613, 05683 ## Count = 30 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000154686" "05516" "00180961" "02568" "Familial, autosomal recessive" "" "hyperphenylalaninemia (HP:0004923)" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210150" "05683" "00275529" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia; no developmental delay/intellectual disability; dystonia; no speech delay; axial hypotonia; no limb hypertonia; no Parkinsonism; nystagmus; no oculogyric crisis; no attention difficulties; no autistic features" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210151" "05683" "00275530" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210152" "05683" "00275531" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; no speech delay; no axial hypotonia; no limb hypertonia; Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; no autistic features" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210153" "05683" "00275532" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia; no developmental delay/intellectual disability; no dystonia; no speech delay; no axial hypotonia; limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties; no autistic features" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210154" "05683" "00275533" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; oculogyric crisis; no attention difficulties; no autistic features" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210155" "05683" "00275534" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia; developmental delay/intellectual disability; dystonia; speech delay; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; autistic features" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210156" "05683" "00275535" "00006" "Familial, autosomal recessive" "13y" "dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; attention difficulties" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210157" "05683" "00275536" "00006" "Familial, autosomal recessive" "11y" "no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210158" "05683" "00275537" "00006" "Familial, autosomal recessive" "25m" "no dystonia; no speech delay; no intellectual disability; no axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210159" "05683" "00275538" "00006" "Familial, autosomal recessive" "3y" "no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210160" "05683" "00275539" "00006" "Familial, autosomal recessive" "10y" "no dystonia; no speech delay; no intellectual disability; mild axial hypotonia; no limb hypertonia; no Parkinsonism; no nystagmus; no oculogyric crisis; no attention difficulties; autistic features" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210161" "05613" "00275540" "00006" "Familial, autosomal recessive" "" "see paper; ..., early-onset Parkinsonism" "" "" "" "" "" "" "" "" "Parkinsonism" "0000210162" "05613" "00275541" "00006" "Familial, autosomal recessive" "" "see paper; ..., early-onset Parkinsonism" "" "" "" "" "" "" "" "" "Parkinsonism" "0000210163" "05683" "00275542" "00006" "Familial, autosomal recessive" "" "see paper; ..., developmental delay, extrapyramidal movement disorder, persistently elevated plasma phenylalanine levels" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210164" "05683" "00275543" "00006" "Familial, autosomal recessive" "6y11m" "see paper; ..." "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210165" "05683" "00275544" "00006" "Familial, autosomal recessive" "17y" "see paper; ..." "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "0000210480" "05683" "00275880" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210481" "05683" "00275881" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210482" "05683" "00275882" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210483" "05683" "00275883" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210484" "05683" "00275884" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210485" "05683" "00275885" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210486" "05683" "00275886" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210487" "05683" "00275887" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210488" "05683" "00275888" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000210489" "05683" "00275889" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "HPANBH4" "hyperphenylalaninemia" "0000311252" "00221" "00420034" "04409" "Unknown" "" "MHP, phe at diagnosis=2.8mg/dl" "" "" "" "" "" "" "" "" "" "0000311255" "00221" "00420037" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=6.3mg/dl" "" "" "" "" "" "" "" "" "" "0000342369" "02554" "00453712" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "HPANBH4" "inborn error of metabolism" ## Screenings ## Do not remove or alter this header ## ## Count = 33 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000181908" "00180961" "1" "02568" "02568" "2018-09-18 14:52:59" "" "" "SEQ" "DNA" "" "" "0000276688" "00275529" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276689" "00275530" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276690" "00275531" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276691" "00275532" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276692" "00275533" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276693" "00275534" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276694" "00275535" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276695" "00275536" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276696" "00275537" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276697" "00275538" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276698" "00275539" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276699" "00275540" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276700" "00275541" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WES" "0000276701" "00275542" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276702" "00275543" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276703" "00275544" "1" "00006" "00006" "2020-01-06 19:22:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000277034" "00275880" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277035" "00275881" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277036" "00275882" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277037" "00275883" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277038" "00275884" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277039" "00275885" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277040" "00275886" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277041" "00275887" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277042" "00275888" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000277043" "00275889" "1" "00006" "00006" "2020-01-20 09:23:08" "" "" "MLPA;SEQ" "DNA" "" "" "0000288252" "00287088" "1" "02568" "02568" "2020-02-12 10:15:51" "" "" "SEQ" "DNA" "" "" "0000288253" "00287089" "1" "02568" "02568" "2020-02-12 10:30:46" "" "" "SEQ" "DNA" "" "" "0000289427" "00288258" "1" "02568" "02568" "2020-02-18 13:29:26" "" "" "SEQ" "DNA" "" "" "0000421343" "00420034" "1" "04409" "04409" "2022-10-30 15:57:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000421347" "00420037" "1" "04409" "04409" "2022-10-30 16:12:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000455324" "00453712" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "Mendeliome panel" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 42 "{{screeningid}}" "{{geneid}}" "0000181908" "DNAJC12" "0000276688" "DNAJC12" "0000276689" "DNAJC12" "0000276690" "DNAJC12" "0000276691" "DNAJC12" "0000276692" "DNAJC12" "0000276693" "DNAJC12" "0000276694" "DNAJC12" "0000276695" "DNAJC12" "0000276696" "DNAJC12" "0000276697" "DNAJC12" "0000276698" "DNAJC12" "0000276699" "DNAJC12" "0000276700" "DNAJC12" "0000276701" "DNAJC12" "0000276702" "DNAJC12" "0000276703" "DNAJC12" "0000277034" "DNAJC12" "0000277034" "PAH" "0000277035" "DNAJC12" "0000277035" "PAH" "0000277036" "DNAJC12" "0000277036" "PAH" "0000277037" "DNAJC12" "0000277037" "PAH" "0000277038" "DNAJC12" "0000277038" "PAH" "0000277039" "DNAJC12" "0000277039" "PAH" "0000277040" "DNAJC12" "0000277040" "PAH" "0000277041" "DNAJC12" "0000277041" "PAH" "0000277042" "DNAJC12" "0000277042" "PAH" "0000277043" "DNAJC12" "0000277043" "PAH" "0000288252" "DNAJC12" "0000288253" "DNAJC12" "0000289427" "DNAJC12" "0000421343" "DNAJC12" "0000421347" "DNAJC12" ## 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 = 45 "{{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}}" "0000405673" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "02568" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67797189C>T" "" "pathogenic" "" "0000540326" "0" "50" "10" "69565346" "69565346" "subst" "0" "02327" "DNAJC12_000002" "g.69565346G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67805588G>A" "" "VUS" "" "0000612545" "0" "50" "10" "69556933" "69556933" "subst" "4.07342E-5" "02327" "DNAJC12_000003" "g.69556933G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.67797175G>A" "" "VUS" "" "0000630815" "3" "90" "10" "69559572" "69566513" "del" "0" "00006" "DNAJC12_000005" "g.69559572_69566513del" "" "{PMID:Anikster 2017:28132689}" "" "298-968_503-2603del6943" "" "Germline" "yes" "" "0" "" "" "g.67799814_67806755del" "" "pathogenic (recessive)" "" "0000630816" "3" "90" "10" "69559572" "69566513" "del" "0" "00006" "DNAJC12_000005" "g.69559572_69566513del" "" "{PMID:Anikster 2017:28132689}" "" "298-968_503-2603del6943" "" "Germline" "yes" "" "0" "" "" "g.67799814_67806755del" "" "pathogenic (recessive)" "" "0000630817" "3" "90" "10" "69571423" "69571423" "subst" "8.2335E-6" "00006" "DNAJC12_000009" "g.69571423T>A" "" "{PMID:Anikster 2017:28132689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811665T>A" "" "pathogenic (recessive)" "" "0000630818" "3" "90" "10" "69571423" "69571423" "subst" "8.2335E-6" "00006" "DNAJC12_000009" "g.69571423T>A" "" "{PMID:Anikster 2017:28132689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811665T>A" "" "pathogenic (recessive)" "" "0000630819" "3" "90" "10" "69571364" "69571364" "subst" "0" "00006" "DNAJC12_000006" "g.69571364C>G" "" "{PMID:Anikster 2017:28132689}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811606C>G" "" "pathogenic (recessive)" "" "0000630820" "3" "90" "10" "69559572" "69566513" "del" "0" "00006" "DNAJC12_000005" "g.69559572_69566513del" "" "{PMID:Anikster 2017:28132689}" "" "298-968_503-2603del6943" "" "Germline" "yes" "" "0" "" "" "g.67799814_67806755del" "" "pathogenic (recessive)" "" "0000630821" "1" "90" "10" "69583144" "69583144" "del" "1.62579E-5" "00006" "DNAJC12_000010" "g.69583144del" "" "{PMID:van Spronsen 2017:28794131}" "" "85delC" "" "Germline" "" "" "0" "" "" "g.67823386del" "" "pathogenic (recessive)" "" "0000630822" "3" "90" "10" "69583144" "69583144" "del" "1.62579E-5" "00006" "DNAJC12_000010" "g.69583144del" "" "{PMID:van Spronsen 2017:28794131}" "" "86delC" "" "Germline" "" "" "0" "" "" "g.67823386del" "" "pathogenic (recessive)" "" "0000630823" "3" "90" "10" "69571365" "69571365" "subst" "1.21887E-5" "00006" "DNAJC12_000007" "g.69571365G>A" "" "{PMID:van Spronsen 2017:28794131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811607G>A" "" "pathogenic (recessive)" "" "0000630824" "3" "90" "10" "69571365" "69571365" "subst" "1.21887E-5" "00006" "DNAJC12_000007" "g.69571365G>A" "" "{PMID:van Spronsen 2017:28794131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811607G>A" "" "pathogenic (recessive)" "" "0000630825" "3" "90" "10" "69571365" "69571365" "subst" "1.21887E-5" "00006" "DNAJC12_000007" "g.69571365G>A" "" "{PMID:van Spronsen 2017:28794131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811607G>A" "" "pathogenic (recessive)" "" "0000630826" "3" "90" "10" "69571392" "69571392" "subst" "0" "00006" "DNAJC12_000008" "g.69571392T>A" "" "{PMID:Straniero 2017:28892570}" "" "" "" "Germline" "" "" "0" "" "" "g.67811634T>A" "" "pathogenic (recessive)" "" "0000630827" "3" "90" "10" "69583152" "69583152" "subst" "0" "00006" "DNAJC12_000011" "g.69583152T>C" "" "{PMID:Straniero 2017:28892570}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67823394T>C" "" "pathogenic (recessive)" "" "0000630828" "3" "90" "10" "69559572" "69566513" "del" "0" "00006" "DNAJC12_000005" "g.69559572_69566513del" "" "{PMID:de Sain-van der Velden 2018:29380259}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67799814_67806755del" "" "pathogenic (recessive)" "" "0000630829" "3" "90" "10" "69597712" "69597713" "del" "0" "00006" "DNAJC12_000012" "g.69597712_69597713del" "" "{PMID:Veenma 2018:30139987}" "" "58_59delGG" "" "Germline" "yes" "" "0" "" "" "g.67837954_67837955del" "" "pathogenic (recessive)" "" "0000630830" "3" "90" "10" "69597712" "69597713" "del" "0" "00006" "DNAJC12_000012" "g.69597712_69597713del" "" "{PMID:Veenma 2018:30139987}" "" "58_59delGG" "" "Germline" "yes" "" "0" "" "" "g.67837954_67837955del" "" "pathogenic (recessive)" "" "0000630831" "2" "90" "10" "69556875" "69556875" "subst" "4.08587E-6" "00006" "DNAJC12_000004" "g.69556875C>A" "" "{PMID:van Spronsen 2017:28794131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67797117C>A" "" "pathogenic (recessive)" "" "0000630832" "2" "90" "10" "69556875" "69556875" "subst" "4.08587E-6" "00006" "DNAJC12_000004" "g.69556875C>A" "" "{PMID:van Spronsen 2017:28794131}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67797117C>A" "" "pathogenic (recessive)" "" "0000631763" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631764" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631765" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631766" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631767" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631768" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631769" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631770" "3" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631771" "1" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631772" "1" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000631773" "2" "90" "10" "69565340" "69565340" "subst" "0" "00006" "DNAJC12_000013" "g.69565340C>G" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67805582C>G" "" "pathogenic (recessive)" "" "0000631774" "2" "90" "10" "69565547" "69565547" "subst" "0" "00006" "DNAJC12_000014" "g.69565547T>G" "" "{DOI:Leal 2017 (Abs290):10.1177/2326409817722292#_i1318}" "" "" "" "Germline" "" "" "0" "" "" "g.67805789T>G" "" "pathogenic (recessive)" "" "0000644164" "11" "90" "10" "69565547" "69565547" "subst" "0" "02568" "DNAJC12_000014" "g.69565547T>G" "" "Leal 2017 (Abs290), {DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "" "" "0" "" "" "g.67805789T>G" "" "pathogenic (recessive)" "" "0000644165" "21" "90" "10" "69556947" "69556947" "subst" "0.000175237" "02568" "DNAJC12_000001" "g.69556947C>T" "" "Leal 2017 (Abs290), {DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000644166" "1" "90" "10" "69565340" "69565340" "subst" "0" "02568" "DNAJC12_000013" "g.69565340C>G" "" "Leal 2017 (Abs290), {DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "" "" "0" "" "" "g.67805582C>G" "" "pathogenic (recessive)" "" "0000644167" "2" "90" "10" "69556947" "69556947" "subst" "0.000175237" "02568" "DNAJC12_000001" "g.69556947C>T" "" "Leal 2017 (Abs290), {DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000645395" "1" "90" "10" "69556947" "69556947" "subst" "0.000175237" "02568" "DNAJC12_000001" "g.69556947C>T" "" "Leal 2017 (Abs290), {DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "" "" "0" "" "" "g.67797189C>T" "" "pathogenic (recessive)" "" "0000645396" "2" "90" "10" "69565534" "69565534" "subst" "0" "02568" "DNAJC12_000015" "g.69565534C>A" "" "{DOI:Gallego 2020:10.1002/humu.24026}" "" "" "" "Germline" "" "" "0" "" "" "g.67805776C>A" "" "pathogenic (recessive)" "" "0000882097" "21" "50" "10" "69583144" "69583144" "subst" "0" "04409" "DNAJC12_000018" "g.69583144G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000882098" "11" "50" "10" "69565537" "69565537" "subst" "0" "04409" "DNAJC12_000016" "g.69565537G>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000882104" "11" "90" "10" "69571282" "69571282" "del" "0" "04409" "DNAJC12_000017" "g.69571282del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.67811524del" "" "pathogenic (recessive)" "ACMG" "0000882105" "21" "90" "10" "69565340" "69583151" "dup" "0" "04409" "DNAJC12_000019" "g.(69556969_69565340)_(69583151_69597691)dup" "" "{PMID:Luo 2023:36849017}" "" "79_502dup" "" "Germline" "yes" "" "0" "" "" "g.(67797211_67805582)_(67823393_67837933)dup" "" "pathogenic (recessive)" "ACMG" "0001007357" "1" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs370032864" "0" "" "" "g.67797189C>T" "" "pathogenic" "" "0001007426" "2" "90" "10" "69556947" "69556947" "subst" "0.000175237" "00006" "DNAJC12_000001" "g.69556947C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "rs370032864" "0" "" "" "g.67797189C>T" "" "pathogenic" "" ## 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 DNAJC12 ## Count = 45 "{{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}}" "0000405673" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000540326" "00006564" "50" "497" "0" "497" "0" "c.497C>T" "r.(?)" "p.(Ser166Phe)" "" "0000612545" "00006564" "50" "538" "0" "538" "0" "c.538C>T" "r.(?)" "p.(Arg180Cys)" "" "0000630815" "00006564" "90" "298" "-953" "503" "-2589" "c.298-953_503-2589del" "r.?" "p.?" "3i_4i" "0000630816" "00006564" "90" "298" "-953" "503" "-2589" "c.298-953_503-2589del" "r.?" "p.?" "3i_4i" "0000630817" "00006564" "90" "158" "-2" "158" "-2" "c.158-2A>T" "r.spl" "p.?" "" "0000630818" "00006564" "90" "158" "-2" "158" "-2" "c.158-2A>T" "r.spl" "p.?" "" "0000630819" "00006564" "90" "215" "0" "215" "0" "c.215G>C" "r.(?)" "p.(Arg72Pro)" "" "0000630820" "00006564" "90" "298" "-953" "503" "-2589" "c.298-953_503-2589del" "r.?" "p.?" "3i_4i" "0000630821" "00006564" "90" "85" "0" "85" "0" "c.85del" "r.(?)" "p.(Gln29Lysfs*38)" "" "0000630822" "00006564" "90" "85" "0" "85" "0" "c.85del" "r.(?)" "p.(Gln29Lysfs*38)" "" "0000630823" "00006564" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000630824" "00006564" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000630825" "00006564" "90" "214" "0" "214" "0" "c.214C>T" "r.(?)" "p.(Arg72*)" "" "0000630826" "00006564" "90" "187" "0" "187" "0" "c.187A>T" "r.(?)" "p.(Lys63*)" "" "0000630827" "00006564" "90" "79" "-2" "79" "-2" "c.79-2A>G" "r.79_157del" "p.?" "" "0000630828" "00006564" "90" "298" "-953" "503" "-2589" "c.298-953_503-2589del" "r.?" "p.?" "3i_4i" "0000630829" "00006564" "90" "58" "0" "59" "0" "c.58_59del" "r.(?)" "p.(Gly20Metfs*2)" "" "0000630830" "00006564" "90" "58" "0" "59" "0" "c.58_59del" "r.(?)" "p.(Gly20Metfs*2)" "" "0000630831" "00006564" "90" "596" "0" "596" "0" "c.596G>T" "r.(?)" "p.(*199Leuext*42)" "" "0000630832" "00006564" "90" "596" "0" "596" "0" "c.596G>T" "r.(?)" "p.(*199Leuext*42)" "" "0000631763" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631764" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631765" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631766" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631767" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631768" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631769" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631770" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631771" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631772" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000631773" "00006564" "90" "502" "1" "502" "1" "c.502+1G>C" "r.spl" "p.?" "" "0000631774" "00006564" "90" "298" "-2" "298" "-2" "c.298-2A>C" "r.spl" "p.?" "" "0000644164" "00006564" "90" "298" "-2" "298" "-2" "c.298-2A>C" "r.spl" "p.?" "" "0000644165" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000644166" "00006564" "90" "502" "1" "502" "1" "c.502+1G>C" "r.spl" "p.?" "" "0000644167" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000645395" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175*)" "" "0000645396" "00006564" "90" "309" "0" "309" "0" "c.309G>T" "r.(?)" "p.(Trp103Cys)" "" "0000882097" "00006564" "50" "85" "0" "85" "0" "c.85C>A" "r.(?)" "p.(Gln29Lys)" "2" "0000882098" "00006564" "50" "306" "0" "306" "0" "c.306C>G" "r.(?)" "p.(His102Gln)" "4" "0000882104" "00006564" "90" "297" "1" "297" "1" "c.297+1del" "r.spl" "p.?" "" "0000882105" "00006564" "90" "79" "-1" "502" "1" "c.(78+1_79-1)_(502+1_503-1)dup" "r.?" "p.?" "1i_4i" "0001007357" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175Ter)" "5" "0001007426" "00006564" "90" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Trp175Ter)" "5" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 43 "{{screeningid}}" "{{variantid}}" "0000181908" "0000405673" "0000276688" "0000630815" "0000276689" "0000630816" "0000276690" "0000630817" "0000276691" "0000630818" "0000276692" "0000630819" "0000276693" "0000630820" "0000276694" "0000630821" "0000276694" "0000630831" "0000276695" "0000630822" "0000276695" "0000630832" "0000276696" "0000630823" "0000276697" "0000630824" "0000276698" "0000630825" "0000276699" "0000630826" "0000276700" "0000630827" "0000276701" "0000630828" "0000276702" "0000630829" "0000276703" "0000630830" "0000277034" "0000631763" "0000277035" "0000631764" "0000277036" "0000631765" "0000277037" "0000631766" "0000277038" "0000631767" "0000277039" "0000631768" "0000277040" "0000631769" "0000277041" "0000631770" "0000277042" "0000631771" "0000277042" "0000631773" "0000277043" "0000631772" "0000277043" "0000631774" "0000288252" "0000644164" "0000288252" "0000644165" "0000288253" "0000644166" "0000288253" "0000644167" "0000289427" "0000645395" "0000289427" "0000645396" "0000421343" "0000882097" "0000421343" "0000882098" "0000421347" "0000882104" "0000421347" "0000882105" "0000455324" "0001007357" "0000455324" "0001007426"