### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PARK7)
# 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}}"
"PARK7" "parkinson protein 7" "1" "p36.23" "unknown" "NG_008271.1" "UD_132118953603" "" "https://www.LOVD.nl/PARK7" "" "1" "16369" "11315" "602533" "1" "1" "1" "1" "A Parkinson\'s disease Mutation Database\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/PARK7_codingDNA.html" "1" "" "A Parkinson\'s disease Mutation Database" "-1" "" "-1" "00001" "2008-05-27 00:00:00" "00006" "2020-10-02 15:48:54" "00000" "2023-01-11 15:44:22"
## 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}}"
"00015670" "PARK7" "transcript variant 1" "001" "NM_007262.4" "" "NP_009193.2" "" "" "" "-163" "798" "570" "8021714" "8045342" "" "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}}"
"00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" ""
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02579" "PARK7" "Parkinson disease, type 7 (PARK-7)" "AR" "606324" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05"
"05613" "PARK" "Parkinson disease (PARK)" "" "" "" "" "" "00006" "2019-06-19 16:46:42" "00006" "2019-06-19 16:46:58"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"PARK7" "02579"
## Individuals ## Do not remove or alter this header ##
## Count = 30
"{{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}}"
"00289924" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00312614" "" "" "" "1" "" "02176" "{PMID:Bonifati 2003:12446870}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00312615" "" "" "" "1" "" "02176" "{PMID:Hague 2003:12891685}" "no family history" "" "" "" "" "0" "" "" "Hispanic" ""
"00312616" "" "" "" "1" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "age onset at 39" "" "" "" "" "0" "" "" "Ashkenazi-Jewish" ""
"00312617" "" "" "" "2" "" "02176" "{PMID:Tang 2006:16632486}" "family, two affected siblings" "" "" "China" "" "0" "" "" "" ""
"00312618" "" "" "" "1" "" "02176" "{PMID:Hering 2004:15365989}" "family of Turkish origin" "" "" "" "" "0" "" "" "" ""
"00312619" "" "" "" "0" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312620" "" "" "" "1" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "" "" "0" "" "" "Afro-Carribean" ""
"00312621" "" "" "" "0" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312622" "" "" "" "0" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312623" "" "" "" "1" "" "02176" "{PMID:Hedrich 2004:14872018}" "Patient ID B-66" "" "" "" "" "0" "" "" "" ""
"00312624" "" "" "" "0" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "" "" "0" "" "" "" ""
"00312625" "" "" "" "0" "" "02176" "{PMID:Clark 2004:15254937}" "" "" "" "" "" "0" "" "" "" ""
"00312626" "" "" "" "0" "" "02176" "{PMID:Hedrich 2004:14872018}" "" "" "" "" "" "0" "" "" "" ""
"00312627" "" "" "" "0" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "" "" "0" "" "" "" ""
"00312628" "" "" "" "1" "" "02176" "{PMID:Clark 2004:15254937}" "" "" "" "" "" "0" "" "" "Asian" ""
"00312629" "" "" "" "1" "" "02176" "{PMID:Hague 2003:12891685}" "no family history" "" "" "" "" "0" "" "" "Latino" ""
"00312630" "" "" "" "1" "" "02176" "{PMID:Hedrich 2004:14872018}" "patient ID L1347" "" "" "" "" "0" "" "" "" ""
"00312631" "" "" "" "0" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312633" "" "" "" "1" "" "02176" "{PMID:Annesi 2005:16240358}" "three brothers" "M" "" "Italy" "" "0" "" "" "Southern Italy" ""
"00312634" "" "" "" "1" "" "02176" "{PMID:Bonifati 2003:12446870}" "" "" "" "Italy" "" "0" "" "" "" ""
"00312635" "" "" "" "0" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "" "" "0" "" "" "" ""
"00312636" "" "" "" "1" "" "02176" "{PMID:Pankratz 2006:16997464}" "" "" "" "" "" "0" "" "" "" ""
"00312637" "" "" "" "1" "" "02176" "{PMID:Clark 2004:15254937}" "healthy control" "" "" "United States" "" "0" "" "" "African-American" ""
"00312638" "" "" "" "0" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312639" "" "" "" "1" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312640" "" "" "" "1" "" "02176" "{PMID:Hague 2003:12891685}" "" "" "" "" "" "0" "" "" "" ""
"00312641" "" "" "" "0" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "" "" "0" "" "" "" ""
"00312642" "" "" "" "0" "" "02176" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "" "" "0" "" "" "" ""
"00407043" "" "" "" "2" "" "00006" "{PMID:Jiang 2022:33563768}" "" "M" "" "China" "" "0" "" "" "" "DJ1#1"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 30
"{{individualid}}" "{{diseaseid}}"
"00289924" "00198"
"00312614" "05613"
"00312615" "05613"
"00312616" "05613"
"00312617" "05613"
"00312618" "05613"
"00312619" "05613"
"00312620" "05613"
"00312621" "05613"
"00312622" "05613"
"00312623" "05613"
"00312624" "05613"
"00312625" "05613"
"00312626" "05613"
"00312627" "05613"
"00312628" "05613"
"00312629" "05613"
"00312630" "05613"
"00312631" "05613"
"00312633" "05613"
"00312634" "05613"
"00312635" "05613"
"00312636" "05613"
"00312637" "00000"
"00312638" "05613"
"00312639" "00198"
"00312640" "00198"
"00312641" "05613"
"00312642" "05613"
"00407043" "04255"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02579, 04255, 05613
## Count = 26
"{{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}}"
"0000237709" "05613" "00312614" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237710" "05613" "00312615" "02176" "-" "" "" "24y" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237711" "05613" "00312616" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237712" "05613" "00312617" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "Parkinsons disease" ""
"0000237713" "05613" "00312618" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237714" "05613" "00312619" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237715" "05613" "00312620" "02176" "-" "" "36y" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237716" "05613" "00312621" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237717" "05613" "00312622" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237718" "05613" "00312623" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237719" "05613" "00312624" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237720" "05613" "00312625" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237721" "05613" "00312626" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237722" "05613" "00312627" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237723" "05613" "00312628" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237724" "05613" "00312629" "02176" "-" "" "" "35y" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237725" "05613" "00312630" "02176" "-" "" "" "17y" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237726" "05613" "00312631" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237728" "05613" "00312634" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237729" "05613" "00312635" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237730" "05613" "00312636" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "familial Parkinsons disease" ""
"0000237731" "05613" "00312637" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "control" ""
"0000237732" "05613" "00312638" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237733" "05613" "00312641" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237734" "05613" "00312642" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000299431" "04255" "00407043" "00006" "Familial, autosomal recessive" "24y" "ALS-parkinsonism-dementia complex; site onset limb" "" "" "" "" "" "" "" "" "" "amyotrophic lateral sclerosis" ""
## Screenings ## Do not remove or alter this header ##
## Count = 30
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000291092" "00289924" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000313786" "00312614" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-22 06:54:25" "SEQ" "DNA" "" ""
"0000313787" "00312615" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-21 08:47:44" "SEQ" "DNA" "" ""
"0000313788" "00312616" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-22 07:37:20" "SEQ" "DNA" "" ""
"0000313789" "00312617" "1" "02176" "02176" "2008-06-13 20:22:14" "02176" "2008-06-21 07:41:31" "SEQ" "DNA" "" ""
"0000313790" "00312618" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-21 08:19:16" "SEQ" "DNA" "" ""
"0000313791" "00312619" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313792" "00312620" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-22 07:44:26" "SEQ" "DNA" "" ""
"0000313793" "00312621" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313794" "00312622" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313795" "00312623" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-21 08:32:05" "SEQ;PCR;DHPLC" "DNA" "" ""
"0000313796" "00312624" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313797" "00312625" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313798" "00312626" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ;PCR;DHPLC" "DNA" "" ""
"0000313799" "00312627" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313800" "00312628" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-21 07:51:47" "SEQ" "DNA" "" ""
"0000313801" "00312629" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-22 06:35:37" "SEQ" "DNA" "" ""
"0000313802" "00312630" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-21 08:25:44" "SEQ;PCR;DHPLC" "DNA" "" ""
"0000313803" "00312631" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313805" "00312633" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-22 07:00:41" "SEQ" "DNA" "" ""
"0000313806" "00312634" "1" "02176" "02176" "2008-06-10 07:41:51" "02176" "2008-06-22 06:47:15" "SEQ" "DNA" "" ""
"0000313807" "00312635" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313808" "00312636" "1" "02176" "02176" "2008-06-21 08:11:42" "" "" "SEQ" "DNA" "" ""
"0000313809" "00312637" "1" "02176" "02176" "2008-06-13 20:24:49" "02176" "2008-06-21 07:59:50" "SEQ" "DNA" "" ""
"0000313810" "00312638" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313811" "00312639" "1" "02176" "02176" "2008-06-22 07:30:34" "" "" "SEQ" "DNA" "" ""
"0000313812" "00312640" "1" "02176" "02176" "2008-06-22 07:24:52" "" "" "SEQ" "DNA" "" ""
"0000313813" "00312641" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000313814" "00312642" "1" "02176" "02176" "2008-06-10 07:41:51" "" "" "SEQ" "DNA" "" ""
"0000408290" "00407043" "1" "00006" "00006" "2022-04-05 18:59:54" "" "" "SEQ" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 28
"{{screeningid}}" "{{geneid}}"
"0000313786" "PARK7"
"0000313787" "PARK7"
"0000313788" "PARK7"
"0000313789" "PARK7"
"0000313790" "PARK7"
"0000313791" "PARK7"
"0000313792" "PARK7"
"0000313793" "PARK7"
"0000313794" "PARK7"
"0000313795" "PARK7"
"0000313796" "PARK7"
"0000313797" "PARK7"
"0000313798" "PARK7"
"0000313799" "PARK7"
"0000313800" "PARK7"
"0000313801" "PARK7"
"0000313802" "PARK7"
"0000313803" "PARK7"
"0000313805" "PARK7"
"0000313806" "PARK7"
"0000313807" "PARK7"
"0000313808" "PARK7"
"0000313809" "PARK7"
"0000313810" "PARK7"
"0000313811" "PARK7"
"0000313812" "PARK7"
"0000313813" "PARK7"
"0000313814" "PARK7"
## 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 = 58
"{{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}}"
"0000296763" "0" "50" "1" "8029423" "8029423" "subst" "0" "02325" "PARK7_000031" "g.8029423G>T" "" "" "" "PARK7(NM_007262.5):c.211G>T (p.V71F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7969363G>T" "" "VUS" ""
"0000296764" "0" "10" "1" "8029446" "8029446" "subst" "0.00834884" "02325" "PARK7_000008" "g.8029446C>T" "" "" "" "PARK7(NM_001123377.1):c.234C>T (p.G78=), PARK7(NM_001123377.2):c.234C>T (p.G78=), PARK7(NM_007262.5):c.234C>T (p.G78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7969386C>T" "" "benign" ""
"0000296765" "0" "30" "1" "8030994" "8030994" "subst" "0.00795069" "02325" "PARK7_000011" "g.8030994G>A" "" "" "" "PARK7(NM_001123377.1):c.293G>A (p.R98Q), PARK7(NM_001123377.2):c.293G>A (p.R98Q), PARK7(NM_007262.5):c.293G>A (p.R98Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7970934G>A" "" "likely benign" ""
"0000296766" "0" "50" "1" "8045010" "8045010" "subst" "2.43651E-5" "02325" "PARK7_000037" "g.8045010C>T" "" "" "" "PARK7(NM_007262.5):c.466C>T (p.R156W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7984950C>T" "" "VUS" ""
"0000296767" "0" "30" "1" "8045018" "8045018" "subst" "4.06147E-6" "02325" "PARK7_000038" "g.8045018T>C" "" "" "" "PARK7(NM_007262.5):c.474T>C (p.P158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7984958T>C" "" "likely benign" ""
"0000296768" "0" "30" "1" "8045079" "8045079" "subst" "0.000568616" "02325" "PARK7_000040" "g.8045079G>A" "" "" "" "PARK7(NM_007262.5):c.535G>A (p.A179T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7985019G>A" "" "likely benign" ""
"0000298797" "0" "10" "1" "8030994" "8030994" "subst" "0.00795069" "02329" "PARK7_000011" "g.8030994G>A" "" "" "" "PARK7(NM_001123377.1):c.293G>A (p.R98Q), PARK7(NM_001123377.2):c.293G>A (p.R98Q), PARK7(NM_007262.5):c.293G>A (p.R98Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7970934G>A" "" "benign" ""
"0000305028" "0" "10" "1" "8029446" "8029446" "subst" "0.00834884" "01943" "PARK7_000008" "g.8029446C>T" "" "" "" "PARK7(NM_001123377.1):c.234C>T (p.G78=), PARK7(NM_001123377.2):c.234C>T (p.G78=), PARK7(NM_007262.5):c.234C>T (p.G78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7969386C>T" "" "benign" ""
"0000305029" "0" "10" "1" "8029494" "8029494" "subst" "0.262973" "01943" "PARK7_000009" "g.8029494T>G" "" "" "" "PARK7(NM_001123377.1):c.252+30T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7969434T>G" "" "benign" ""
"0000305031" "0" "30" "1" "8029472" "8029472" "dup" "0" "01943" "PARK7_000034" "g.8029472dup" "" "" "" "PARK7(NM_001123377.1):c.252+8dupA, PARK7(NM_007262.4):c.252+8dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7969412dup" "" "likely benign" ""
"0000305032" "0" "30" "1" "8030994" "8030994" "subst" "0.00795069" "01943" "PARK7_000011" "g.8030994G>A" "" "" "" "PARK7(NM_001123377.1):c.293G>A (p.R98Q), PARK7(NM_001123377.2):c.293G>A (p.R98Q), PARK7(NM_007262.5):c.293G>A (p.R98Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7970934G>A" "" "likely benign" ""
"0000305033" "0" "90" "1" "8045041" "8045041" "subst" "0" "01943" "PARK7_000019" "g.8045041T>C" "" "" "" "PARK7(NM_001123377.1):c.497T>C (p.L166P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7984981T>C" "" "pathogenic" ""
"0000338785" "0" "10" "1" "8021778" "8021778" "subst" "0" "02327" "PARK7_000041" "g.8021778T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7961718T>C" "" "benign" ""
"0000508473" "0" "30" "1" "8031028" "8031028" "subst" "2.43675E-5" "01943" "PARK7_000042" "g.8031028C>T" "" "" "" "PARK7(NM_007262.4):c.322+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7970968C>T" "" "likely benign" ""
"0000508474" "0" "90" "1" "8045015" "8045017" "del" "7.30929E-5" "01943" "PARK7_000043" "g.8045015_8045017del" "" "" "" "PARK7(NM_001123377.1):c.471_473delGCC (p.P158del), PARK7(NM_001123377.2):c.471_473delGCC (p.P158del), PARK7(NM_007262.4):c.471_473delGCC (p.(Pro1...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7984955_7984957del" "" "pathogenic" ""
"0000508475" "0" "90" "1" "8045015" "8045017" "del" "7.30929E-5" "02325" "PARK7_000043" "g.8045015_8045017del" "" "" "" "PARK7(NM_001123377.1):c.471_473delGCC (p.P158del), PARK7(NM_001123377.2):c.471_473delGCC (p.P158del), PARK7(NM_007262.4):c.471_473delGCC (p.(Pro1...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7984955_7984957del" "" "pathogenic" ""
"0000508476" "0" "50" "1" "8045015" "8045017" "del" "7.30929E-5" "02329" "PARK7_000043" "g.8045015_8045017del" "" "" "" "PARK7(NM_001123377.1):c.471_473delGCC (p.P158del), PARK7(NM_001123377.2):c.471_473delGCC (p.P158del), PARK7(NM_007262.4):c.471_473delGCC (p.(Pro1...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7984955_7984957del" "" "VUS" ""
"0000508477" "0" "30" "1" "8045030" "8045030" "subst" "4.46697E-5" "01943" "PARK7_000044" "g.8045030C>T" "" "" "" "PARK7(NM_007262.4):c.486C>T (p.F162=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7984970C>T" "" "likely benign" ""
"0000508478" "0" "30" "1" "8045045" "8045045" "subst" "0.00128731" "01943" "PARK7_000020" "g.8045045A>G" "" "" "" "PARK7(NM_007262.4):c.501A>G (p.A167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7984985A>G" "" "likely benign" ""
"0000620701" "0" "50" "1" "8045046" "8045046" "subst" "2.43651E-5" "01943" "PARK7_000046" "g.8045046A>G" "" "" "" "PARK7(NM_007262.4):c.502A>G (p.I168V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7984986A>G" "" "VUS" ""
"0000647781" "1" "50" "1" "8045031" "8045031" "subst" "1.21823E-5" "03575" "PARK7_000018" "g.8045031G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 2 heterozygous, no homozygous; {DB:CLININrs74315354}" "Germline" "" "rs74315354" "0" "" "" "g.7984971G>A" "" "VUS" ""
"0000688251" "0" "50" "1" "8022901" "8022901" "subst" "2.03042E-5" "02325" "PARK7_000048" "g.8022901C>T" "" "" "" "PARK7(NM_007262.5):c.56C>T (p.T19M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000695689" "3" "99" "1" "8021714" "8031024" "del" "0" "02176" "PARK7_000021" "g.(?_8021714)_(8031024_8037721)del" "" "{PMID:Bonifati 2003:12446870}" "" "(?_-154)_322+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000695690" "1" "50" "1" "8022901" "8022902" "delins" "0" "02176" "PARK7_000005" "g.8022901_8022902delinsA" "" "{PMID:Hague 2003:12891685}" "" "[56delC;57G>A]" "" "Germline" "" "" "0" "" "" "g.7962841_7962842delinsA" "" "VUS" ""
"0000695691" "3" "77" "1" "8022923" "8022923" "subst" "0" "02176" "PARK7_000006" "g.8022923G>A" "0/1138 control chromosomes" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "Germline" "" "" "0" "" "" "g.7962863G>A" "" "likely pathogenic" ""
"0000695692" "10" "77" "1" "8025408" "8025408" "subst" "0" "02176" "PARK7_000025" "g.8025408G>T" "" "{PMID:Tang 2006:16632486}" "" "" "combined with PINK1:P399L" "Germline" "" "" "0" "" "" "g.7965348G>T" "" "likely pathogenic" ""
"0000695693" "3" "77" "1" "8025485" "8025485" "subst" "0" "02176" "PARK7_000007" "g.8025485G>C" "" "{PMID:Hering 2004:15365989}" "" "" "" "Germline" "" "" "0" "" "" "g.7965425G>C" "" "likely pathogenic" ""
"0000695694" "0" "50" "1" "8029446" "8029446" "subst" "0.00834884" "02176" "PARK7_000008" "g.8029446C>T" "1/40 Afro-Caribbean" "{PMID:Hague 2003:12891685}" "" "" "" "Germline" "" "" "0" "" "" "g.7969386C>T" "" "VUS" ""
"0000695695" "0" "50" "1" "8029446" "8029446" "subst" "0.00834884" "02176" "PARK7_000008" "g.8029446C>T" "1/40 Afro-Caribbean" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "compound heterozygote with p.G78G" "Germline" "" "" "0" "" "" "g.7969386C>T" "" "VUS" ""
"0000695696" "0" "11" "1" "8029494" "8029494" "subst" "0.262973" "02176" "PARK7_000009" "g.8029494T>G" "0.23 (80 subjects)" "{PMID:Hague 2003:12891685}" "" "" "" "Germline" "" "" "0" "" "" "g.7969434T>G" "" "benign" ""
"0000695697" "0" "11" "1" "8030923" "8030923" "subst" "0.0123449" "02176" "PARK7_000010" "g.8030923C>T" "1/160 chromosomes" "{PMID:Hague 2003:12891685}" "" "" "" "Germline" "" "" "0" "" "" "g.7970863C>T" "" "benign" ""
"0000695698" "1" "77" "1" "8030953" "8045342" "del" "0" "02176" "PARK7_000022" "g.(8029465_8030953)_(8045342_?)del" "1/100 EOPD" "{PMID:Hedrich 2004:14872018}" "" "253-?_(*225_?)del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0000695699" "1" "11" "1" "8030994" "8030994" "subst" "0.00795069" "02176" "PARK7_000011" "g.8030994G>A" "3% (n=196)" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "Germline" "" "" "0" "" "" "g.7970934G>A" "" "benign" ""
"0000695700" "1" "50" "1" "8030994" "8030994" "subst" "0.00795069" "02176" "PARK7_000011" "g.8030994G>A" "3% (n=196)" "{PMID:Clark 2004:15254937}" "" "" "" "Germline" "" "" "0" "" "" "g.7970934G>A" "" "VUS" ""
"0000695701" "1" "11" "1" "8030994" "8030994" "subst" "0.00795069" "02176" "PARK7_000011" "g.8030994G>A" "3% (n=196)" "{PMID:Hedrich 2004:14872018}" "" "" "" "Germline" "" "" "0" "" "" "g.7970934G>A" "" "benign" ""
"0000695702" "1" "50" "1" "8030995" "8030995" "subst" "0" "02176" "PARK7_000012" "g.8030995G>T" "2/380 chrosomes" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "Germline" "" "" "0" "" "" "g.7970935G>T" "" "VUS" ""
"0000695703" "1" "50" "1" "8031011" "8031011" "subst" "0.000385768" "02176" "PARK7_000013" "g.8031011G>A" "1/160 chromosomes" "{PMID:Clark 2004:15254937}" "" "" "" "Germline" "" "" "0" "" "" "g.7970951G>A" "" "VUS" ""
"0000695704" "1" "50" "1" "8031011" "8031011" "subst" "0.000385768" "02176" "PARK7_000013" "g.8031011G>A" "1/160 chromosomes" "{PMID:Hague 2003:12891685}" "" "" "" "Germline" "" "" "0" "" "" "g.7970951G>A" "" "VUS" ""
"0000695705" "1" "99" "1" "8031025" "8031035" "del" "0" "02176" "PARK7_000014" "g.8031025_8031035del" "1/100 EOPD" "{PMID:Hedrich 2004:14872018}" "" "322+2-12del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000695706" "1" "11" "1" "8031054" "8031054" "subst" "0.102738" "02176" "PARK7_000015" "g.8031054G>A" "" "{PMID:Hague 2003:12891685}" "" "" "" "Germline" "" "" "0" "" "" "g.7970994G>A" "" "benign" ""
"0000695709" "2" "77" "1" "8044953" "8044953" "subst" "0" "02176" "PARK7_000016" "g.8044953G>C" "1/107" "{PMID:Hague 2003:12891685}" "" "" "" "Germline" "" "" "0" "" "" "g.7984893G>C" "" "likely pathogenic" ""
"0000695710" "0" "50" "1" "8044990" "8044990" "subst" "0.000129943" "02176" "PARK7_000017" "g.8044990A>C" "" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "compound heterozygote with p.G78G" "Germline" "" "" "0" "" "" "g.7984930A>C" "" "VUS" ""
"0000695711" "3" "99" "1" "8045031" "8045031" "subst" "1.21823E-5" "02176" "PARK7_000018" "g.8045031G>A" "" "{PMID:Annesi 2005:16240358}" "" "" "double homozygote with DJ-1_g.168_185dup" "Germline" "" "" "0" "" "" "g.7984971G>A" "" "pathogenic" ""
"0000695712" "3" "99" "1" "8045041" "8045041" "subst" "0" "02176" "PARK7_000019" "g.8045041T>C" "" "{PMID:Bonifati 2003:12446870}" "" "" "" "Germline" "" "" "0" "" "" "g.7984981T>C" "" "pathogenic" ""
"0000695713" "0" "50" "1" "8045045" "8045045" "subst" "0.00128731" "02176" "PARK7_000020" "g.8045045A>G" "" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "Germline" "" "" "0" "" "" "g.7984985A>G" "" "VUS" ""
"0000695714" "1" "50" "1" "8045045" "8045045" "subst" "0.00128731" "02176" "PARK7_000020" "g.8045045A>G" "" "{PMID:Pankratz 2006:16997464}" "" "" "" "Germline" "" "" "0" "" "" "g.7984985A>G" "" "VUS" ""
"0000695715" "1" "50" "1" "8045055" "8045055" "subst" "4.06114E-6" "02176" "PARK7_000026" "g.8045055G>T" "1/202 controls" "{PMID:Clark 2004:15254937}" "" "510G>T" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000695716" "1" "50" "1" "8021930" "8022779" "del" "0" "02176" "PARK7_000002" "g.8021930_8022779del" "0.15 (80 subjects)" "{PMID:Hague 2003:12891685}" "" "g.168_185del" "" "Germline" "" "" "0" "" "" "g.7961870_7962719del" "" "VUS" ""
"0000695717" "3" "50" "1" "8021930" "8022779" "dup" "0" "02176" "PARK7_000003" "g.8021930_8022779dup" "" "{PMID:Annesi 2005:16240358}" "" "g.168_185dup" "double homozygote with DJ-1_g.168_185dup" "Germline" "" "" "0" "" "" "g.7961870_7962719dup" "" "VUS" ""
"0000695718" "0" "11" "1" "8021778" "8021778" "subst" "0" "02176" "PARK7_000028" "g.8021778C>T" "0.41" "{PMID:Hague 2003:12891685}" "" "g.18C>T" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000695719" "0" "11" "1" "8021974" "8021974" "subst" "0" "02176" "PARK7_000027" "g.8021974G>T" "0.15 (80 subjects)" "{PMID:Hague 2003:12891685}" "" "g.213G>T" "" "Germline" "" "" "0" "" "" "" "" "benign" ""
"0000695720" "1" "50" "1" "8045233" "8045234" "ins" "0" "02176" "PARK7_000023" "g.8045233_8045234insA" "1/380 chromosomes" "{PMID:Abou-Sleiman 2003:12953260}" "" "*120InsA" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000695721" "1" "50" "1" "8045317" "8045317" "subst" "0" "02176" "PARK7_000024" "g.8045317G>A" "1/380 chromosomes" "{PMID:Abou-Sleiman 2003:12953260}" "" "" "" "Germline" "" "" "0" "" "" "g.7985257G>A" "" "VUS" ""
"0000717708" "0" "10" "1" "8029446" "8029446" "subst" "0.00834884" "02329" "PARK7_000008" "g.8029446C>T" "" "" "" "PARK7(NM_001123377.1):c.234C>T (p.G78=), PARK7(NM_001123377.2):c.234C>T (p.G78=), PARK7(NM_007262.5):c.234C>T (p.G78=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000799537" "0" "30" "1" "8045103" "8045103" "subst" "0" "01943" "PARK7_000049" "g.8045103C>T" "" "" "" "PARK7(NM_007262.4):c.559C>T (p.L187F, p.(Leu187Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000845167" "3" "90" "1" "8025426" "8025426" "subst" "0" "00006" "PARK7_000050" "g.8025426C>T" "1/486 cases" "{PMID:Jiang 2022:33563768}" "" "Q45X" "" "Germline" "" "" "0" "" "" "g.7965366C>T" "" "pathogenic" ""
"0000991442" "0" "50" "1" "8045015" "8045017" "del" "7.30929E-5" "01804" "PARK7_000043" "g.8045015_8045017del" "" "" "" "PARK7(NM_001123377.1):c.471_473delGCC (p.P158del), PARK7(NM_001123377.2):c.471_473delGCC (p.P158del), PARK7(NM_007262.4):c.471_473delGCC (p.(Pro1...))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000991443" "0" "50" "1" "8045103" "8045103" "subst" "0" "01804" "PARK7_000049" "g.8045103C>T" "" "" "" "PARK7(NM_007262.4):c.559C>T (p.L187F, p.(Leu187Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes PARK7
## Count = 58
"{{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}}"
"0000296763" "00015670" "50" "211" "0" "211" "0" "c.211G>T" "r.(?)" "p.(Val71Phe)" ""
"0000296764" "00015670" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" ""
"0000296765" "00015670" "30" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" ""
"0000296766" "00015670" "50" "466" "0" "466" "0" "c.466C>T" "r.(?)" "p.(Arg156Trp)" ""
"0000296767" "00015670" "30" "474" "0" "474" "0" "c.474T>C" "r.(?)" "p.(Pro158=)" ""
"0000296768" "00015670" "30" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Ala179Thr)" ""
"0000298797" "00015670" "10" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" ""
"0000305028" "00015670" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" ""
"0000305029" "00015670" "10" "252" "30" "252" "30" "c.252+30T>G" "r.(=)" "p.(=)" ""
"0000305031" "00015670" "30" "252" "8" "252" "8" "c.252+8dup" "r.(=)" "p.(=)" ""
"0000305032" "00015670" "30" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" ""
"0000305033" "00015670" "90" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" ""
"0000338785" "00015670" "10" "-99" "0" "-99" "0" "c.-99T>C" "r.(?)" "p.(=)" ""
"0000508473" "00015670" "30" "322" "5" "322" "5" "c.322+5C>T" "r.spl?" "p.?" ""
"0000508474" "00015670" "90" "471" "0" "473" "0" "c.471_473del" "r.(?)" "p.(Pro158del)" ""
"0000508475" "00015670" "90" "471" "0" "473" "0" "c.471_473del" "r.(?)" "p.(Pro158del)" ""
"0000508476" "00015670" "50" "471" "0" "473" "0" "c.471_473del" "r.(?)" "p.(Pro158del)" ""
"0000508477" "00015670" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(Phe162=)" ""
"0000508478" "00015670" "30" "501" "0" "501" "0" "c.501A>G" "r.(?)" "p.(Ala167=)" ""
"0000620701" "00015670" "50" "502" "0" "502" "0" "c.502A>G" "r.(?)" "p.(Ile168Val)" ""
"0000647781" "00015670" "50" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Glu163Lys)" ""
"0000688251" "00015670" "50" "56" "0" "56" "0" "c.56C>T" "r.(?)" "p.(Thr19Met)" ""
"0000695689" "00015670" "99" "0" "0" "0" "0" "c.-163_(322+1_333-1){0}" "r.0?" "p.0?" "_1_5i"
"0000695690" "00015670" "50" "56" "0" "57" "0" "c.56_57delinsA" "r.(?)" "p.(Thr19Lysfs*5)" "2"
"0000695691" "00015670" "77" "78" "0" "78" "0" "c.78G>A" "r.(?)" "p.(Met26Ile)" "2"
"0000695692" "00015670" "77" "115" "0" "115" "0" "c.115G>T" "r.(?)" "p.(Ala39Ser)" "3"
"0000695693" "00015670" "77" "192" "0" "192" "0" "c.192G>C" "r.(?)" "p.(Glu64Asp)" "3"
"0000695694" "00015670" "50" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" "4"
"0000695695" "00015670" "50" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" "4"
"0000695696" "00015670" "11" "252" "30" "252" "30" "c.252+30T>G" "r.(?)" "p.?" "4i"
"0000695697" "00015670" "11" "253" "-31" "253" "-31" "c.253-31C>T" "r.(?)" "p.?" "4i"
"0000695698" "00015670" "77" "0" "0" "0" "0" "c.(252+1_253-1)_*228{0}" "r.?" "p.?" "4i_7_"
"0000695699" "00015670" "11" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "5"
"0000695700" "00015670" "50" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "5"
"0000695701" "00015670" "11" "293" "0" "293" "0" "c.293G>A" "r.(?)" "p.(Arg98Gln)" "5"
"0000695702" "00015670" "50" "294" "0" "294" "0" "c.294G>T" "r.(?)" "p.(Arg98=)" "5"
"0000695703" "00015670" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Ala104Thr)" "5"
"0000695704" "00015670" "50" "310" "0" "310" "0" "c.310G>A" "r.(?)" "p.(Ala104Thr)" "5"
"0000695705" "00015670" "99" "322" "2" "322" "12" "c.322+2_322+12del" "r.spl" "p.?" "5i"
"0000695706" "00015670" "11" "322" "31" "322" "31" "c.322+31G>A" "r.(?)" "p.?" "5i"
"0000695709" "00015670" "77" "410" "-1" "410" "-1" "c.410-1G>C" "r.spl" "p.?" "6i"
"0000695710" "00015670" "50" "446" "0" "446" "0" "c.446A>C" "r.(?)" "p.(Asp149Ala)" "7"
"0000695711" "00015670" "99" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Glu163Lys)" "7"
"0000695712" "00015670" "99" "497" "0" "497" "0" "c.497T>C" "r.(?)" "p.(Leu166Pro)" "7"
"0000695713" "00015670" "50" "501" "0" "501" "0" "c.501A>G" "r.(?)" "p.(Ala167=)" "7"
"0000695714" "00015670" "50" "501" "0" "501" "0" "c.501A>G" "r.(?)" "p.(Ala167=)" "7"
"0000695715" "00015670" "50" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.A(la171Ser)" "7"
"0000695716" "00015670" "50" "-24" "77" "-23" "-44" "c.-24+77_-23-44del" "r.spl?" "p.?" "1i"
"0000695717" "00015670" "50" "-24" "77" "-23" "-44" "c.-24+77_-23-44dup" "r.spl?" "p.?" "1i"
"0000695718" "00015670" "11" "-99" "0" "-99" "0" "c.-99C>T" "r.(?)" "p.(=)" "_1"
"0000695719" "00015670" "11" "-24" "121" "-24" "121" "c.-24+121G>T" "r.(?)" "p.(=)" "1i"
"0000695720" "00015670" "50" "689" "0" "690" "0" "c.*119_*120insA" "r.(?)" "p.(=)" "7"
"0000695721" "00015670" "50" "773" "0" "773" "0" "c.*203G>A" "r.(?)" "p.?" "7"
"0000717708" "00015670" "10" "234" "0" "234" "0" "c.234C>T" "r.(?)" "p.(Gly78=)" ""
"0000799537" "00015670" "30" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Leu187Phe)" ""
"0000845167" "00015670" "90" "133" "0" "133" "0" "c.133C>T" "r.(?)" "p.(Gln45Ter)" ""
"0000991442" "00015670" "50" "471" "0" "473" "0" "c.471_473del" "r.(?)" "p.(Pro158del)" ""
"0000991443" "00015670" "50" "559" "0" "559" "0" "c.559C>T" "r.(?)" "p.(Leu187Phe)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 33
"{{screeningid}}" "{{variantid}}"
"0000291092" "0000647781"
"0000313786" "0000695689"
"0000313787" "0000695690"
"0000313787" "0000695709"
"0000313788" "0000695691"
"0000313789" "0000695692"
"0000313790" "0000695693"
"0000313791" "0000695694"
"0000313792" "0000695695"
"0000313792" "0000695710"
"0000313793" "0000695696"
"0000313794" "0000695697"
"0000313795" "0000695698"
"0000313796" "0000695699"
"0000313797" "0000695700"
"0000313798" "0000695701"
"0000313799" "0000695702"
"0000313800" "0000695703"
"0000313801" "0000695704"
"0000313802" "0000695705"
"0000313803" "0000695706"
"0000313805" "0000695711"
"0000313805" "0000695717"
"0000313806" "0000695712"
"0000313807" "0000695713"
"0000313808" "0000695714"
"0000313809" "0000695715"
"0000313810" "0000695716"
"0000313811" "0000695718"
"0000313812" "0000695719"
"0000313813" "0000695720"
"0000313814" "0000695721"
"0000408290" "0000845167"