### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PINK1)
# 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}}"
"PINK1" "PTEN induced putative kinase 1" "1" "p36.12" "unknown" "NG_008164.1" "UD_132084481917" "" "https://www.LOVD.nl/PINK1" "" "1" "14581" "65018" "608309" "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/PINK1_codingDNA.html" "1" "" "A Parkinson\'s disease Mutation Database" "-1" "" "-1" "00001" "2008-05-27 00:00:00" "00006" "2020-10-02 15:06:52" "00000" "2025-05-05 21:14:00"
## 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}}"
"00016194" "PINK1" "PTEN induced putative kinase 1" "001" "NM_032409.2" "" "NP_115785.1" "" "" "" "-94" "2566" "1746" "20959948" "20978004" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"02567" "PARK6" "Parkinson disease, type 6, autosomal recessive, early-onset (PARK-6)" "AR" "605909" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"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}}"
"PINK1" "02567"
## Individuals ## Do not remove or alter this header ##
## Count = 82
"{{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}}"
"00050634" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00181212" "" "" "" "1" "" "01807" "" "" "M" "" "" "" "0" "" "" "" ""
"00289672" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289673" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00289674" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00312531" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312532" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312533" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312534" "" "" "" "0" "" "02176" "{PMID:Marongiu 2008:18330912}" "" "" "" "" "" "0" "" "" "" ""
"00312535" "" "" "" "0" "" "02176" "{PMID:Marongiu 2008:18330912}" "" "" "" "" "" "0" "" "" "" ""
"00312536" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312538" "" "" "" "0" "" "02176" "{PMID:Healy 2004:15505171}" "" "" "" "" "" "0" "" "" "" ""
"00312539" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312540" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312541" "" "" "" "0" "" "02176" "{PMID:Djarmati 2006:16755580}" "" "" "" "" "" "0" "" "" "" ""
"00312542" "" "" "" "0" "" "02176" "{PMID:Weng 2007:17960343}" "" "" "" "" "" "0" "" "" "" ""
"00312543" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312544" "" "" "" "0" "" "02176" "{PMID:Djarmati 2006:16755580}" "" "" "" "" "" "0" "" "" "" ""
"00312545" "" "" "" "0" "" "02176" "{PMID:Leutenegger 2006:16966503}" "" "" "" "Sudan" "" "0" "" "" "" ""
"00312546" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312547" "" "" "" "0" "" "02176" "{PMID:Hatano 2004:15349870}" "" "" "" "" "" "0" "" "" "" ""
"00312548" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312549" "" "" "" "0" "" "02176" "{PMID:Rogaeva 2004:15596610}" "" "" "" "" "" "0" "" "" "" ""
"00312550" "" "" "" "0" "" "02176" "{PMID:Hatano 2004:15349870}" "" "" "" "" "" "0" "" "" "" ""
"00312551" "" "" "" "0" "" "02176" "{PMID:Tan 2006:16482571}" "" "" "" "" "" "0" "" "" "" ""
"00312552" "" "" "" "0" "" "02176" "{PMID:Tan 2006:16482571}" "" "" "" "" "" "0" "" "" "" ""
"00312554" "" "" "" "0" "" "02176" "{PMID:Tan 2005:16207217}" "" "" "" "" "" "0" "" "" "" ""
"00312555" "" "" "" "0" "" "02176" "{PMID:Hatano 2004:15349870}" "" "" "" "" "" "0" "" "" "" ""
"00312556" "" "" "" "0" "" "02176" "{PMID:Klein 2005:15970950}" "" "" "" "" "" "0" "" "" "" ""
"00312557" "" "" "" "0" "" "02176" "{PMID:Tan 2006:16482571}" "" "" "" "" "" "0" "" "" "" ""
"00312558" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312559" "" "" "" "0" "" "02176" "{PMID:Savettieri 2008:18329316}" "" "" "" "" "" "0" "" "" "" ""
"00312560" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15087508}" "" "" "" "" "" "0" "" "" "" ""
"00312561" "" "" "" "0" "" "02176" "{PMID:Christi 2006:17030667}" "13 heterozygous was not affected" "" "" "" "" "0" "" "" "" ""
"00312562" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312563" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312564" "" "" "" "0" "" "02176" "{PMID:Marongiu 2008:18330912}" "" "" "" "" "" "0" "" "" "" ""
"00312565" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312566" "" "" "" "0" "" "02176" "{PMID:Weng 2007:17960343}" "" "" "" "" "" "0" "" "" "" ""
"00312567" "" "" "" "0" "" "02176" "{PMID:Hatano 2004:15349870}" "" "" "" "" "" "0" "" "" "" ""
"00312568" "" "" "" "0" "" "02176" "{PMID:Rogaeva 2004:15596610}" "" "" "" "" "" "0" "" "" "" ""
"00312569" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312570" "" "" "" "0" "" "02176" "{PMID:Li 2005:15955953}" "" "" "" "" "" "0" "" "" "" ""
"00312571" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312572" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312573" "" "" "" "0" "" "02176" "{PMID:Li 2005:15955953}" "" "" "" "" "" "0" "" "" "" ""
"00312574" "" "" "" "0" "" "02176" "{PMID:Marongiu 2008:18330912}" "" "" "" "" "" "0" "" "" "" ""
"00312575" "" "" "" "0" "" "02176" "{PMID:Tang 2006:16632486}" "" "" "" "" "" "0" "" "" "" ""
"00312576" "" "" "" "2" "" "02176" "{PMID:Tang 2006:16632486}" "family, two affected siblings" "" "" "China" "" "0" "" "" "" ""
"00312577" "" "" "" "0" "" "02176" "{PMID:Fung 2005:16257123}" "" "" "" "" "" "0" "" "" "" ""
"00312578" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312579" "" "" "" "0" "" "02176" "{PMID:Mellick 2008:18486522}" "1 het" "" "" "" "" "0" "" "" "" ""
"00312580" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312581" "" "" "" "0" "" "02176" "{PMID:Zadikoff :16547921}" "" "" "" "" "" "0" "" "" "" ""
"00312582" "" "" "" "0" "" "02176" "{PMID:Toft 2007:17172567}" "AAO:43;50; excellent ldopa respons but early dyskinesias" "" "" "" "" "0" "" "" "" ""
"00312583" "" "" "" "0" "" "02176" "{PMID:Hatano 2004:15349870}" "" "" "" "" "" "0" "" "" "" ""
"00312584" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312585" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312586" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312587" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15087508}" "" "" "" "" "" "0" "" "" "" ""
"00312588" "" "" "" "0" "" "02176" "{PMID:Marongiu 2008:18330912}" "" "" "" "" "" "0" "" "" "" ""
"00312589" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312590" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312591" "" "" "" "0" "" "02176" "{PMID16009891Bonifati 2005}" "" "" "" "" "" "0" "" "" "" ""
"00312592" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312593" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312594" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312595" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312596" "" "" "" "0" "" "02176" "{PMID:Rogaeva 2004:15596610}" "" "" "" "" "" "0" "" "" "" ""
"00312597" "" "" "" "0" "" "02176" "{PMID:Hatano 2004:15349870}" "" "" "" "" "" "0" "" "" "" ""
"00312598" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312599" "" "" "" "0" "" "02176" "{PMID:Toft 2007:17172567}" "1 case heteroz, AAO:58, slow progression," "" "" "" "" "0" "" "" "" ""
"00312600" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312601" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312602" "" "" "" "0" "" "02176" "{PMID:Weng 2007:17960343}" "" "" "" "" "" "0" "" "" "" ""
"00312603" "" "" "" "0" "" "02176" "{PMID:Valente 2004:15349860}" "" "" "" "" "" "0" "" "" "" ""
"00312604" "" "" "" "0" "" "02176" "{PMID:Bonifati 2005:16009891}" "" "" "" "" "" "0" "" "" "" ""
"00312605" "" "" "" "0" "" "02176" "{PMID:Rohe 2004:15349871}" "" "" "" "" "" "0" "" "" "" ""
"00312606" "" "" "" "0" "" "02176" "{PMID:Klein 2005:15970950}" "" "" "" "" "" "0" "" "" "" ""
"00312607" "" "" "" "0" "" "02176" "{PMID:Ibanez 2006:16401616}" "" "" "" "" "" "0" "" "" "" ""
"00312608" "" "" "" "0" "" "02176" "{PMID:Tan 2007:17385668}" "" "" "" "" "" "0" "" "" "" ""
"00312609" "" "" "" "0" "" "02176" "{PMID:Marongiu 2008:17154281}" "" "" "" "" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 82
"{{individualid}}" "{{diseaseid}}"
"00050634" "00198"
"00181212" "00198"
"00289672" "00198"
"00289673" "00198"
"00289674" "00198"
"00312531" "05613"
"00312532" "05613"
"00312533" "05613"
"00312534" "05613"
"00312535" "05613"
"00312536" "05613"
"00312538" "05613"
"00312539" "05613"
"00312540" "05613"
"00312541" "05613"
"00312542" "05613"
"00312543" "05613"
"00312544" "05613"
"00312545" "05613"
"00312546" "05613"
"00312547" "05613"
"00312548" "05613"
"00312549" "05613"
"00312550" "05613"
"00312551" "05613"
"00312552" "05613"
"00312554" "05613"
"00312555" "05613"
"00312556" "05613"
"00312557" "05613"
"00312558" "05613"
"00312559" "05613"
"00312560" "05613"
"00312561" "05613"
"00312562" "05613"
"00312563" "05613"
"00312564" "05613"
"00312565" "05613"
"00312566" "05613"
"00312567" "05613"
"00312568" "05613"
"00312569" "05613"
"00312570" "05613"
"00312571" "05613"
"00312572" "05613"
"00312573" "05613"
"00312574" "05613"
"00312575" "05613"
"00312576" "05613"
"00312577" "05613"
"00312578" "05613"
"00312579" "05613"
"00312580" "05613"
"00312581" "05613"
"00312582" "05613"
"00312583" "05613"
"00312584" "05613"
"00312585" "05613"
"00312586" "05613"
"00312587" "05613"
"00312588" "05613"
"00312589" "05613"
"00312590" "05613"
"00312591" "05613"
"00312592" "05613"
"00312593" "05613"
"00312594" "05613"
"00312595" "05613"
"00312596" "05613"
"00312597" "05613"
"00312598" "05613"
"00312599" "05613"
"00312600" "05613"
"00312601" "05613"
"00312602" "05613"
"00312603" "05613"
"00312604" "05613"
"00312605" "05613"
"00312606" "05613"
"00312607" "05613"
"00312608" "05613"
"00312609" "05613"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 02567, 05613
## Count = 79
"{{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}}"
"0000037246" "00198" "00050634" "00006" "Isolated (sporadic)" "" "supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability" "" "" "" "" "" "" "" "" "" "" ""
"0000143381" "00198" "00181212" "01807" "Unknown" "" "HP:0001300 (Parkinsonism)" "" "" "" "" "" "" "" "" "" "" ""
"0000237626" "05613" "00312531" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237627" "05613" "00312532" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237628" "05613" "00312533" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237629" "05613" "00312534" "02176" "-" "" "starts in lower limb, gait impairment, urinary urgancy,slower progression" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237630" "05613" "00312535" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237631" "05613" "00312536" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237633" "05613" "00312538" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237634" "05613" "00312539" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237635" "05613" "00312540" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237636" "05613" "00312541" "02176" "-" "" "slow progr, present motor fluctuation" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237637" "05613" "00312542" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237638" "05613" "00312543" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237639" "05613" "00312544" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237640" "05613" "00312545" "02176" "-" "" "juvenile onset AAO:9-17, clinically varying from dopa responsive dystonia to EOPD" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237641" "05613" "00312546" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237642" "05613" "00312547" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237643" "05613" "00312548" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237644" "05613" "00312549" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237645" "05613" "00312550" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237646" "05613" "00312551" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237647" "05613" "00312552" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237649" "05613" "00312554" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237650" "05613" "00312555" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237651" "05613" "00312556" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237652" "05613" "00312557" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237653" "05613" "00312558" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237654" "05613" "00312559" "02176" "-" "" "cognitive decline" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237655" "05613" "00312560" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237656" "05613" "00312561" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237657" "05613" "00312562" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237658" "05613" "00312563" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237659" "05613" "00312564" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237660" "05613" "00312565" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237661" "05613" "00312566" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237662" "05613" "00312567" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237663" "05613" "00312568" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237664" "05613" "00312569" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237665" "05613" "00312570" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237666" "05613" "00312571" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237667" "05613" "00312572" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237668" "05613" "00312573" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237669" "05613" "00312574" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237670" "05613" "00312575" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237671" "05613" "00312576" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "Parkinsons disease" ""
"0000237672" "05613" "00312577" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237673" "05613" "00312578" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237674" "05613" "00312579" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237675" "05613" "00312580" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237676" "05613" "00312581" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237677" "05613" "00312582" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237678" "05613" "00312583" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237679" "05613" "00312584" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237680" "05613" "00312585" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237681" "05613" "00312586" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237682" "05613" "00312587" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237683" "05613" "00312588" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237684" "05613" "00312589" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237685" "05613" "00312590" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237686" "05613" "00312591" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237687" "05613" "00312592" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237688" "05613" "00312593" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237689" "05613" "00312594" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237690" "05613" "00312595" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237691" "05613" "00312596" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237692" "05613" "00312597" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237693" "05613" "00312598" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237694" "05613" "00312599" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237695" "05613" "00312600" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237696" "05613" "00312601" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237697" "05613" "00312602" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237698" "05613" "00312603" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237699" "05613" "00312604" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237700" "05613" "00312605" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237701" "05613" "00312606" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237702" "05613" "00312607" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237703" "05613" "00312608" "02176" "-" "" "" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
"0000237704" "05613" "00312609" "02176" "-" "" "early dyskinesias" "" "" "" "" "" "" "" "" "" "early onset Parkinsons disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 82
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050579" "00050634" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000182170" "00181212" "1" "01807" "01807" "2018-10-04 18:53:32" "" "" "SEQ" "DNA" "" ""
"0000290840" "00289672" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000290841" "00289673" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000290842" "00289674" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000313703" "00312531" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313704" "00312532" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313705" "00312533" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313706" "00312534" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313707" "00312535" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313708" "00312536" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313710" "00312538" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313711" "00312539" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313712" "00312540" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313713" "00312541" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313714" "00312542" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313715" "00312543" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313716" "00312544" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313717" "00312545" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313718" "00312546" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313719" "00312547" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313720" "00312548" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313721" "00312549" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313722" "00312550" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313723" "00312551" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313724" "00312552" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313726" "00312554" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313727" "00312555" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313728" "00312556" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313729" "00312557" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313730" "00312558" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313731" "00312559" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313732" "00312560" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313733" "00312561" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313734" "00312562" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313735" "00312563" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313736" "00312564" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313737" "00312565" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313738" "00312566" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313739" "00312567" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313740" "00312568" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313741" "00312569" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313742" "00312570" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "PCRq" "DNA" "" ""
"0000313743" "00312571" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313744" "00312572" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313745" "00312573" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313746" "00312574" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313747" "00312575" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313748" "00312576" "1" "02176" "02176" "2008-06-13 20:22:14" "02176" "2008-06-21 07:41:31" "SEQ" "DNA" "" ""
"0000313749" "00312577" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313750" "00312578" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313751" "00312579" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313752" "00312580" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313753" "00312581" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313754" "00312582" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313755" "00312583" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313756" "00312584" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313757" "00312585" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313758" "00312586" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313759" "00312587" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313760" "00312588" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313761" "00312589" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313762" "00312590" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313763" "00312591" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313764" "00312592" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313765" "00312593" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313766" "00312594" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313767" "00312595" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313768" "00312596" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313769" "00312597" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313770" "00312598" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313771" "00312599" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313772" "00312600" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313773" "00312601" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313774" "00312602" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313775" "00312603" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313776" "00312604" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313777" "00312605" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313778" "00312606" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313779" "00312607" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313780" "00312608" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "SEQ" "DNA" "" ""
"0000313781" "00312609" "1" "02176" "02176" "2008-06-12 21:24:23" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 77
"{{screeningid}}" "{{geneid}}"
"0000313703" "PINK1"
"0000313704" "PINK1"
"0000313705" "PINK1"
"0000313706" "PINK1"
"0000313707" "PINK1"
"0000313708" "PINK1"
"0000313710" "PINK1"
"0000313711" "PINK1"
"0000313712" "PINK1"
"0000313713" "PINK1"
"0000313714" "PINK1"
"0000313715" "PINK1"
"0000313716" "PINK1"
"0000313717" "PINK1"
"0000313718" "PINK1"
"0000313719" "PINK1"
"0000313720" "PINK1"
"0000313721" "PINK1"
"0000313722" "PINK1"
"0000313723" "PINK1"
"0000313724" "PINK1"
"0000313726" "PINK1"
"0000313727" "PINK1"
"0000313728" "PINK1"
"0000313729" "PINK1"
"0000313730" "PINK1"
"0000313731" "PINK1"
"0000313732" "PINK1"
"0000313733" "PINK1"
"0000313734" "PINK1"
"0000313735" "PINK1"
"0000313736" "PINK1"
"0000313737" "PINK1"
"0000313738" "PINK1"
"0000313739" "PINK1"
"0000313740" "PINK1"
"0000313741" "PINK1"
"0000313742" "PINK1"
"0000313743" "PINK1"
"0000313744" "PINK1"
"0000313745" "PINK1"
"0000313746" "PINK1"
"0000313747" "PINK1"
"0000313748" "PINK1"
"0000313749" "PINK1"
"0000313750" "PINK1"
"0000313751" "PINK1"
"0000313752" "PINK1"
"0000313753" "PINK1"
"0000313754" "PINK1"
"0000313755" "PINK1"
"0000313756" "PINK1"
"0000313757" "PINK1"
"0000313758" "PINK1"
"0000313759" "PINK1"
"0000313760" "PINK1"
"0000313761" "PINK1"
"0000313762" "PINK1"
"0000313763" "PINK1"
"0000313764" "PINK1"
"0000313765" "PINK1"
"0000313766" "PINK1"
"0000313767" "PINK1"
"0000313768" "PINK1"
"0000313769" "PINK1"
"0000313770" "PINK1"
"0000313771" "PINK1"
"0000313772" "PINK1"
"0000313773" "PINK1"
"0000313774" "PINK1"
"0000313775" "PINK1"
"0000313776" "PINK1"
"0000313777" "PINK1"
"0000313778" "PINK1"
"0000313779" "PINK1"
"0000313780" "PINK1"
"0000313781" "PINK1"
## 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 = 162
"{{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}}"
"0000079559" "0" "90" "1" "20540741" "22890410" "del" "0" "00006" "HSPG2_000007" "g.20540741_22890410del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.20214248_22563917del" "" "pathogenic" ""
"0000247895" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "02325" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" ""
"0000248328" "0" "10" "1" "20964328" "20964328" "subst" "0.862378" "02325" "PINK1_000073" "g.20964328A>G" "" "" "" "PINK1(NM_032409.3):c.388-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637835A>G" "" "benign" ""
"0000249491" "0" "30" "1" "20960448" "20960448" "subst" "0.000807727" "02325" "PINK1_000070" "g.20960448A>G" "" "" "" "PINK1(NM_032409.3):c.387+20A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633955A>G" "" "likely benign" ""
"0000249873" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "02329" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" ""
"0000249938" "0" "10" "1" "20960385" "20960385" "subst" "0.0332458" "02329" "PINK1_000090" "g.20960385A>T" "" "" "" "PINK1(NM_032409.2):c.344A>T (p.Q115L), PINK1(NM_032409.3):c.344A>T (p.Q115L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633892A>T" "" "benign" ""
"0000250063" "0" "10" "1" "20964328" "20964328" "subst" "0.862378" "02329" "PINK1_000073" "g.20964328A>G" "" "" "" "PINK1(NM_032409.3):c.388-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637835A>G" "" "benign" ""
"0000250183" "0" "10" "1" "20974802" "20974802" "subst" "0" "02329" "PINK1_000086" "g.20974802A>G" "" "" "" "PINK1(NM_032409.3):c.1124-196A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648309A>G" "" "benign" ""
"0000253097" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "01943" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" ""
"0000253162" "0" "10" "1" "20960385" "20960385" "subst" "0.0332458" "01943" "PINK1_000090" "g.20960385A>T" "" "" "" "PINK1(NM_032409.2):c.344A>T (p.Q115L), PINK1(NM_032409.3):c.344A>T (p.Q115L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633892A>T" "" "benign" ""
"0000256317" "0" "50" "1" "20971158" "20971158" "subst" "0.000886258" "01943" "PINK1_000019" "g.20971158A>T" "" "" "" "PINK1(NM_032409.2):c.952A>T (p.M318L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20644665A>T" "" "VUS" ""
"0000267298" "0" "10" "1" "20982151" "20982151" "subst" "0.178243" "02325" "DDOST_000005" "g.20982151G>A" "" "" "" "DDOST(NM_005216.5):c.456+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20655658G>A" "" "benign" ""
"0000267299" "0" "30" "1" "20981976" "20981976" "subst" "0.000767513" "02325" "DDOST_000004" "g.20981976C>T" "" "" "" "DDOST(NM_005216.5):c.508G>A (p.(Val170Ile), p.V170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20655483C>T" "" "likely benign" ""
"0000267300" "0" "10" "1" "20980880" "20980880" "subst" "0.375911" "02325" "DDOST_000003" "g.20980880G>A" "" "" "" "DDOST(NM_005216.5):c.646-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20654387G>A" "" "benign" ""
"0000296972" "0" "30" "1" "20960014" "20960022" "del" "0" "02325" "PINK1_000067" "g.20960014_20960022del" "" "" "" "PINK1(NM_032409.3):c.-28_-20delTGCGGGGGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633521_20633529del" "" "likely benign" ""
"0000296973" "0" "90" "1" "20972133" "20972133" "subst" "2.03056E-5" "02325" "PINK1_000021" "g.20972133T>C" "" "" "" "PINK1(NM_032409.3):c.1040T>C (p.L347P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645640T>C" "" "pathogenic" ""
"0000296974" "0" "30" "1" "20974999" "20974999" "subst" "2.84576E-5" "02325" "PINK1_000087" "g.20974999C>T" "" "" "" "PINK1(NM_032409.3):c.1125C>T (p.D375=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648506C>T" "" "likely benign" ""
"0000296975" "0" "30" "1" "20975105" "20975105" "subst" "0.00186268" "02325" "PINK1_000056" "g.20975105G>A" "" "" "" "PINK1(NM_032409.2):c.1231G>A (p.G411S), PINK1(NM_032409.3):c.1231G>A (p.G411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648612G>A" "" "likely benign" ""
"0000296976" "0" "90" "1" "20975710" "20975710" "subst" "7.74612E-5" "02325" "PINK1_000036" "g.20975710C>T" "" "" "" "PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20649217C>T" "" "pathogenic" ""
"0000296977" "0" "50" "1" "20964381" "20964381" "subst" "2.84289E-5" "02325" "PINK1_000074" "g.20964381C>T" "" "" "" "PINK1(NM_032409.2):c.434C>T (p.T145M), PINK1(NM_032409.3):c.434C>T (p.T145M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637888C>T" "" "VUS" ""
"0000296978" "0" "50" "1" "20964534" "20964534" "subst" "0.000182796" "02325" "PINK1_000007" "g.20964534C>T" "" "" "" "PINK1(NM_032409.2):c.587C>T (p.P196L), PINK1(NM_032409.3):c.587C>T (p.P196L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20638041C>T" "" "VUS" ""
"0000296979" "0" "30" "1" "20972042" "20972042" "subst" "7.32827E-5" "02325" "PINK1_000081" "g.20972042C>T" "" "" "" "PINK1(NM_032409.3):c.960-11C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645549C>T" "" "likely benign" ""
"0000296980" "0" "10" "1" "20972048" "20972048" "subst" "0.862539" "02325" "PINK1_000082" "g.20972048G>A" "" "" "" "PINK1(NM_032409.3):c.960-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645555G>A" "" "benign" ""
"0000298867" "0" "10" "1" "20972111" "20972111" "subst" "0.0922913" "02329" "PINK1_000053" "g.20972111G>A" "" "" "" "PINK1(NM_032409.2):c.1018G>A (p.A340T), PINK1(NM_032409.3):c.1018G>A (p.A340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645618G>A" "" "benign" ""
"0000298868" "0" "10" "1" "20972340" "20972340" "subst" "0" "02329" "PINK1_000084" "g.20972340G>A" "" "" "" "PINK1(NM_032409.3):c.1123+124G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645847G>A" "" "benign" ""
"0000298869" "0" "10" "1" "20972377" "20972377" "del" "0" "02329" "PINK1_000085" "g.20972377del" "" "" "" "PINK1(NM_032409.3):c.1123+161delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645884del" "" "benign" ""
"0000298870" "0" "10" "1" "20972307" "20972320" "del" "0" "02329" "PINK1_000083" "g.20972307_20972320del" "" "" "" "PINK1(NM_032409.3):c.1123+91_1123+104delTTTGTGTTCTAAGT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645814_20645827del" "" "benign" ""
"0000298871" "0" "10" "1" "20976759" "20976759" "subst" "0" "02329" "PINK1_000088" "g.20976759C>T" "" "" "" "PINK1(NM_032409.3):c.1489-168C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650266C>T" "" "benign" ""
"0000298872" "0" "10" "1" "20960230" "20960230" "subst" "0.17527" "02329" "PINK1_000068" "g.20960230C>T" "" "" "" "PINK1(NM_032409.2):c.189C>T (p.L63=), PINK1(NM_032409.3):c.189C>T (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633737C>T" "" "benign" ""
"0000298873" "0" "10" "1" "20964270" "20964270" "subst" "0" "02329" "PINK1_000071" "g.20964270C>G" "" "" "" "PINK1(NM_032409.3):c.388-65C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637777C>G" "" "benign" ""
"0000298874" "0" "10" "1" "20971911" "20971911" "subst" "0" "02329" "PINK1_000079" "g.20971911G>C" "" "" "" "PINK1(NM_032409.3):c.960-142G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645418G>C" "" "benign" ""
"0000298875" "0" "10" "1" "20971629" "20971629" "subst" "0" "02329" "PINK1_000078" "g.20971629G>A" "" "" "" "PINK1(NM_032409.3):c.960-424G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645136G>A" "" "benign" ""
"0000298876" "0" "10" "1" "20972048" "20972048" "subst" "0.862539" "02329" "PINK1_000082" "g.20972048G>A" "" "" "" "PINK1(NM_032409.3):c.960-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645555G>A" "" "benign" ""
"0000305673" "0" "50" "1" "20972108" "20972108" "subst" "0.000572719" "01943" "PINK1_000020" "g.20972108G>A" "" "" "" "PINK1(NM_032409.2):c.1015G>A (p.A339T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645615G>A" "" "VUS" ""
"0000305674" "0" "10" "1" "20972111" "20972111" "subst" "0.0922913" "01943" "PINK1_000053" "g.20972111G>A" "" "" "" "PINK1(NM_032409.2):c.1018G>A (p.A340T), PINK1(NM_032409.3):c.1018G>A (p.A340T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645618G>A" "" "benign" ""
"0000305675" "0" "30" "1" "20975021" "20975021" "subst" "0.000276367" "01943" "PINK1_000055" "g.20975021G>A" "" "" "" "PINK1(NM_032409.2):c.1147G>A (p.A383T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20648528G>A" "" "likely benign" ""
"0000305676" "0" "90" "1" "20975602" "20975602" "subst" "4.06352E-5" "01943" "PINK1_000032" "g.20975602C>T" "" "" "" "PINK1(NM_032409.2):c.1366C>T (p.Q456*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20649109C>T" "" "pathogenic" ""
"0000305677" "0" "90" "1" "20975710" "20975710" "subst" "7.74612E-5" "01943" "PINK1_000036" "g.20975710C>T" "" "" "" "PINK1(NM_032409.2):c.1474C>T (p.R492*), PINK1(NM_032409.3):c.1474C>T (p.R492*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20649217C>T" "" "pathogenic" ""
"0000305679" "0" "10" "1" "20960230" "20960230" "subst" "0.17527" "01943" "PINK1_000068" "g.20960230C>T" "" "" "" "PINK1(NM_032409.2):c.189C>T (p.L63=), PINK1(NM_032409.3):c.189C>T (p.L63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633737C>T" "" "benign" ""
"0000305680" "0" "90" "1" "20960367" "20960367" "del" "0" "01943" "PINK1_000069" "g.20960367del" "" "" "" "PINK1(NM_032409.2):c.326delG (p.G109Afs*49)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20633874del" "" "pathogenic" ""
"0000305681" "0" "10" "1" "20964270" "20964271" "del" "0" "01943" "PINK1_000072" "g.20964270_20964271del" "" "" "" "PINK1(NM_032409.2):c.388-65_388-64delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637777_20637778del" "" "benign" ""
"0000305683" "0" "90" "1" "20964449" "20964449" "subst" "2.03031E-5" "01943" "PINK1_000006" "g.20964449G>C" "" "" "" "PINK1(NM_032409.2):c.502G>C (p.A168P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637956G>C" "" "pathogenic" ""
"0000305684" "0" "30" "1" "20964512" "20964512" "subst" "5.27966E-5" "01943" "PINK1_000075" "g.20964512G>A" "" "" "" "PINK1(NM_032409.2):c.565G>A (p.G189R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20638019G>A" "" "likely benign" ""
"0000305685" "0" "50" "1" "20964534" "20964534" "subst" "0.000182796" "01943" "PINK1_000007" "g.20964534C>T" "" "" "" "PINK1(NM_032409.2):c.587C>T (p.P196L), PINK1(NM_032409.3):c.587C>T (p.P196L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20638041C>T" "" "VUS" ""
"0000305686" "0" "30" "1" "20966495" "20966495" "subst" "0.000195303" "01943" "PINK1_000076" "g.20966495C>T" "" "" "" "PINK1(NM_032409.2):c.776+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20640002C>T" "" "likely benign" ""
"0000305687" "0" "30" "1" "20971142" "20971142" "subst" "0.00156002" "01943" "PINK1_000077" "g.20971142G>A" "" "" "" "PINK1(NM_032409.2):c.936G>A (p.R312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20644649G>A" "" "likely benign" ""
"0000337470" "0" "10" "1" "20964328" "20964328" "subst" "0.862378" "02327" "PINK1_000073" "g.20964328A>G" "" "" "" "PINK1(NM_032409.3):c.388-7A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20637835A>G" "" "benign" ""
"0000337471" "0" "10" "1" "20972048" "20972048" "subst" "0.862539" "02327" "PINK1_000082" "g.20972048G>A" "" "" "" "PINK1(NM_032409.3):c.960-5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20645555G>A" "" "benign" ""
"0000343778" "0" "10" "1" "20977000" "20977000" "subst" "0.293036" "02327" "PINK1_000062" "g.20977000A>C" "" "" "" "PINK1(NM_032409.2):c.1562A>C (p.N521T), PINK1(NM_032409.3):c.1562A>C (p.N521T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.20650507A>C" "" "benign" ""
"0000406047" "3" "70" "1" "20975036" "20975036" "subst" "0" "01807" "PINK1_000024" "g.20975036T>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.20648543T>C" "" "likely pathogenic" ""
"0000505028" "0" "50" "1" "20966410" "20966410" "subst" "4.09769E-6" "01943" "PINK1_000092" "g.20966410T>C" "" "" "" "PINK1(NM_032409.2):c.701T>C (p.L234S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20639917T>C" "" "VUS" ""
"0000505029" "0" "50" "1" "20966418" "20966418" "subst" "8.19296E-6" "01943" "PINK1_000093" "g.20966418A>G" "" "" "" "PINK1(NM_032409.2):c.709A>G (p.M237V), PINK1(NM_032409.3):c.709A>G (p.M237V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20639925A>G" "" "VUS" ""
"0000505030" "0" "50" "1" "20966418" "20966418" "subst" "8.19296E-6" "02325" "PINK1_000093" "g.20966418A>G" "" "" "" "PINK1(NM_032409.2):c.709A>G (p.M237V), PINK1(NM_032409.3):c.709A>G (p.M237V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20639925A>G" "" "VUS" ""
"0000505031" "0" "10" "1" "20971997" "20971997" "dup" "0" "02329" "PINK1_000094" "g.20971997dup" "" "" "" "PINK1(NM_032409.3):c.960-56dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20645504dup" "" "benign" ""
"0000505032" "0" "30" "1" "20972043" "20972043" "subst" "0" "01943" "PINK1_000095" "g.20972043T>C" "" "" "" "PINK1(NM_032409.2):c.960-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20645550T>C" "" "likely benign" ""
"0000505033" "0" "30" "1" "20972114" "20972114" "subst" "1.21837E-5" "02329" "PINK1_000096" "g.20972114A>G" "" "" "" "PINK1(NM_032409.3):c.1021A>G (p.M341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20645621A>G" "" "likely benign" ""
"0000505034" "0" "30" "1" "20975105" "20975105" "subst" "0.00186268" "01943" "PINK1_000056" "g.20975105G>A" "" "" "" "PINK1(NM_032409.2):c.1231G>A (p.G411S), PINK1(NM_032409.3):c.1231G>A (p.G411S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20648612G>A" "" "likely benign" ""
"0000505036" "0" "30" "1" "20977002" "20977002" "subst" "0" "02325" "DDOST_000008" "g.20977002C>T" "" "" "" "PINK1(NM_032409.3):c.1564C>T (p.L522=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20650509C>T" "" "likely benign" ""
"0000505037" "0" "90" "1" "20977008" "20977011" "dup" "0" "01943" "PINK1_000038" "g.20977008_20977011dup" "" "" "" "PINK1(NM_032409.2):c.1570_1573dupTTAG (p.D525Vfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20650515_20650518dup" "" "pathogenic" ""
"0000505046" "0" "10" "1" "20982631" "20982631" "subst" "0.57967" "02325" "DDOST_000010" "g.20982631G>A" "" "" "" "DDOST(NM_005216.5):c.315C>T (p.G105=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20656138G>A" "" "benign" ""
"0000605119" "0" "30" "1" "20960282" "20960282" "subst" "0" "01943" "PINK1_000097" "g.20960282T>C" "" "" "" "PINK1(NM_032409.2):c.241T>C (p.L81=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20633789T>C" "" "likely benign" ""
"0000647529" "1" "90" "1" "20971144" "20971144" "subst" "1.6254E-5" "03575" "PINK1_000051" "g.20971144C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs74315359}" "Germline" "" "rs74315359" "0" "" "" "g.20644651C>T" "" "pathogenic" ""
"0000647530" "1" "50" "1" "20972108" "20972108" "subst" "0.000572719" "03575" "PINK1_000020" "g.20972108G>A" "16/2699 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs55831733}" "Germline" "" "rs55831733" "0" "" "" "g.20645615G>A" "" "VUS" ""
"0000647531" "1" "50" "1" "20975070" "20975070" "subst" "1.62546E-5" "03575" "PINK1_000025" "g.20975070C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs119451946}" "Germline" "" "rs119451946" "0" "" "" "g.20648577C>T" "" "VUS" ""
"0000653869" "0" "30" "1" "20964381" "20964381" "subst" "2.84289E-5" "01943" "PINK1_000074" "g.20964381C>T" "" "" "" "PINK1(NM_032409.2):c.434C>T (p.T145M), PINK1(NM_032409.3):c.434C>T (p.T145M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20637888C>T" "" "likely benign" ""
"0000653871" "0" "30" "1" "20980799" "20980799" "subst" "0.00139301" "01943" "DDOST_000015" "g.20980799G>A" "" "" "" "DDOST(NM_005216.4):c.762C>T (p.R254=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.20654306G>A" "" "likely benign" ""
"0000695606" "0" "99" "1" "20960111" "20960142" "del" "0" "02176" "PINK1_000001" "g.20960111_20960142del" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20633618_20633649del" "" "pathogenic" ""
"0000695607" "0" "50" "1" "20960244" "20960245" "delins" "0" "02176" "PINK1_000002" "g.20960244_20960245delinsCT" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20633751_20633752delinsCT" "" "VUS" ""
"0000695608" "0" "50" "1" "20960316" "20960316" "subst" "0" "02176" "PINK1_000003" "g.20960316G>T" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20633823G>T" "" "VUS" ""
"0000695609" "0" "50" "1" "20960333" "20960333" "subst" "5.74904E-6" "02176" "PINK1_000043" "g.20960333C>T" "" "{PMID:Marongiu 2008:18330912}" "" "" "" "Germline" "" "" "0" "" "" "g.20633840C>T" "" "VUS" ""
"0000695610" "0" "50" "1" "20960373" "20960373" "subst" "0" "02176" "PINK1_000044" "g.20960373T>G" "" "{PMID:Marongiu 2008:18330912}" "" "" "" "Germline" "" "" "0" "" "" "g.20633880T>G" "" "VUS" ""
"0000695611" "0" "50" "1" "20960414" "20960414" "subst" "0" "02176" "PINK1_000004" "g.20960414T>G" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20633921T>G" "" "VUS" ""
"0000695613" "0" "50" "1" "20964387" "20964387" "subst" "1.62447E-5" "02176" "PINK1_000005" "g.20964387G>A" "" "{PMID:Healy 2004:15505171}" "" "" "" "Germline" "" "" "0" "" "" "g.20637894G>A" "" "VUS" ""
"0000695614" "0" "50" "1" "20964449" "20964449" "subst" "2.03031E-5" "02176" "PINK1_000006" "g.20964449G>C" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20637956G>C" "" "VUS" ""
"0000695615" "0" "50" "1" "20964449" "20964449" "subst" "2.03031E-5" "02176" "PINK1_000006" "g.20964449G>C" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20637956G>C" "" "VUS" ""
"0000695616" "0" "50" "1" "20964505" "20964505" "subst" "0.000666011" "02176" "PINK1_000047" "g.20964505G>C" "2" "{PMID:Djarmati 2006:16755580}" "" "" "" "Germline" "" "" "0" "" "" "g.20638012G>C" "" "VUS" ""
"0000695617" "0" "50" "1" "20964524" "20964524" "subst" "2.43712E-5" "02176" "PINK1_000046" "g.20964524G>A" "" "{PMID:Weng 2007:17960343}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000695618" "0" "50" "1" "20964534" "20964534" "subst" "0.000182796" "02176" "PINK1_000007" "g.20964534C>T" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20638041C>T" "" "VUS" ""
"0000695619" "0" "50" "1" "20964573" "20964573" "subst" "0.000126308" "02176" "PINK1_000048" "g.20964573C>T" "1" "{PMID:Djarmati 2006:16755580}" "" "" "" "Germline" "" "" "0" "" "" "g.20638080C>T" "" "VUS" ""
"0000695620" "0" "50" "1" "20964597" "20964597" "subst" "0" "02176" "PINK1_000045" "g.20964597C>A" "8" "{PMID:Leutenegger 2006:16966503}" "" "" "" "Germline" "" "" "0" "" "" "g.20638104C>A" "" "VUS" ""
"0000695621" "0" "50" "1" "20966401" "20966401" "subst" "0" "02176" "PINK1_000008" "g.20966401A>G" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20639908A>G" "" "VUS" ""
"0000695622" "0" "99" "1" "20966424" "20966424" "subst" "0" "02176" "PINK1_000009" "g.20966424C>T" "" "{PMID:Hatano 2004:15349870}" "" "" "" "Germline" "" "" "0" "" "" "g.20639931C>T" "" "pathogenic" ""
"0000695623" "0" "50" "1" "20966427" "20966427" "subst" "0" "02176" "PINK1_000010" "g.20966427G>A" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20639934G>A" "" "VUS" ""
"0000695624" "0" "50" "1" "20966427" "20966427" "subst" "0" "02176" "PINK1_000010" "g.20966427G>A" "" "{PMID:Rogaeva 2004:15596610}" "" "" "" "Germline" "" "" "0" "" "" "g.20639934G>A" "" "VUS" ""
"0000695625" "0" "99" "1" "20966445" "20966445" "subst" "2.88467E-5" "02176" "PINK1_000011" "g.20966445C>T" "" "{PMID:Hatano 2004:15349870}" "" "" "" "Germline" "" "" "0" "" "" "g.20639952C>T" "" "pathogenic" ""
"0000695626" "0" "99" "1" "20966445" "20966445" "subst" "2.88467E-5" "02176" "PINK1_000011" "g.20966445C>T" "" "{PMID:Tan 2006:16482571}" "" "" "" "Germline" "" "" "0" "" "" "g.20639952C>T" "" "pathogenic" ""
"0000695627" "0" "99" "1" "20966483" "20966483" "subst" "0" "02176" "PINK1_000012" "g.20966483C>A" "" "{PMID:Tan 2006:16482571}" "" "" "" "Germline" "" "" "0" "" "" "g.20639990C>A" "" "pathogenic" ""
"0000695629" "0" "50" "1" "20971008" "20971008" "subst" "9.33927E-5" "02176" "PINK1_000013" "g.20971008C>G" "" "{PMID:Tan 2005:16207217}" "" "" "" "Germline" "" "" "0" "" "" "g.20644515C>G" "" "VUS" ""
"0000695630" "0" "50" "1" "20971019" "20971019" "subst" "0" "02176" "PINK1_000014" "g.20971019C>A" "" "{PMID:Hatano 2004:15349870}" "" "" "" "Germline" "" "" "0" "" "" "g.20644526C>A" "" "VUS" ""
"0000695631" "0" "50" "1" "20971042" "20971042" "subst" "4.06062E-5" "02176" "PINK1_000015" "g.20971042G>A" "" "{PMID:Klein 2005:15970950}" "" "" "" "Germline" "" "" "0" "" "" "g.20644549G>A" "" "VUS" ""
"0000695632" "0" "50" "1" "20971044" "20971044" "subst" "4.46668E-5" "02176" "PINK1_000016" "g.20971044G>A" "" "{PMID:Tan 2006:16482571}" "" "" "" "Germline" "" "" "0" "" "" "g.20644551G>A" "" "VUS" ""
"0000695633" "0" "50" "1" "20971093" "20971093" "subst" "8.12203E-6" "02176" "PINK1_000017" "g.20971093C>T" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20644600C>T" "" "VUS" ""
"0000695634" "0" "99" "1" "20971095" "20971095" "del" "0" "02176" "PINK1_000049" "g.20971095del" "2" "{PMID:Savettieri 2008:18329316}" "" "" "" "Germline" "" "" "0" "" "" "g.20644602del" "" "pathogenic" ""
"0000695635" "0" "50" "1" "20971132" "20971132" "subst" "0" "02176" "PINK1_000018" "g.20971132G>A" "" "{PMID:Valente 2004:15087508}" "" "" "" "Germline" "" "" "0" "" "" "g.20644639G>A" "" "VUS" ""
"0000695636" "0" "50" "1" "20971144" "20971144" "subst" "1.6254E-5" "02176" "PINK1_000051" "g.20971144C>T" "2" "{PMID:Christi 2006:17030667}" "" "" "" "Germline" "" "" "0" "" "" "g.20644651C>T" "" "VUS" ""
"0000695637" "0" "50" "1" "20971155" "20971155" "subst" "4.06534E-5" "02176" "PINK1_000050" "g.20971155G>A" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20644662G>A" "" "VUS" ""
"0000695638" "0" "50" "1" "20971158" "20971158" "subst" "0.000886258" "02176" "PINK1_000019" "g.20971158A>T" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20644665A>T" "" "VUS" ""
"0000695639" "0" "50" "1" "20972058" "20972058" "subst" "3.25198E-5" "02176" "PINK1_000052" "g.20972058C>T" "" "{PMID:Marongiu 2008:18330912}" "" "" "" "Germline" "" "" "0" "" "" "g.20645565C>T" "" "VUS" ""
"0000695640" "0" "50" "1" "20972108" "20972108" "subst" "0.000572719" "02176" "PINK1_000020" "g.20972108G>A" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20645615G>A" "" "VUS" ""
"0000695641" "0" "50" "1" "20972111" "20972111" "subst" "0.0922913" "02176" "PINK1_000053" "g.20972111G>A" "2" "{PMID:Weng 2007:17960343}" "" "" "" "Germline" "" "" "0" "" "" "g.20645618G>A" "" "VUS" ""
"0000695642" "0" "50" "1" "20972133" "20972133" "subst" "2.03056E-5" "02176" "PINK1_000021" "g.20972133T>C" "" "{PMID:Hatano 2004:15349870}" "" "" "" "Germline" "" "" "0" "" "" "g.20645640T>C" "" "VUS" ""
"0000695643" "0" "50" "1" "20972133" "20972133" "subst" "2.03056E-5" "02176" "PINK1_000021" "g.20972133T>C" "" "{PMID:Rogaeva 2004:15596610}" "" "" "" "Germline" "" "" "0" "" "" "g.20645640T>C" "" "VUS" ""
"0000695644" "0" "50" "1" "20972199" "20972199" "subst" "4.06095E-6" "02176" "PINK1_000022" "g.20972199T>C" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20645706T>C" "" "VUS" ""
"0000695645" "0" "99" "1" "0" "0" "" "0" "02176" "PINK1_000042" "g.?" "" "{PMID:Li 2005:15955953}" "" "c.1124-1535_(*881)del" "" "Germline" "" "" "0" "" "" "g.20646970_20651572del" "" "pathogenic" ""
"0000695646" "0" "50" "1" "20975021" "20975021" "subst" "0.000276367" "02176" "PINK1_000055" "g.20975021G>A" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20648528G>A" "" "VUS" ""
"0000695647" "0" "50" "1" "20975031" "20975031" "subst" "0" "02176" "PINK1_000023" "g.20975031G>C" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20648538G>C" "" "VUS" ""
"0000695648" "0" "50" "1" "20975036" "20975036" "subst" "0" "02176" "PINK1_000024" "g.20975036T>C" "" "{PMID:Li 2005:15955953}" "" "1163T>C" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000695649" "0" "50" "1" "20975058" "20975058" "subst" "0" "02176" "PINK1_000054" "g.20975058G>T" "" "{PMID:Marongiu 2008:18330912}" "" "" "" "Germline" "" "" "0" "" "" "g.20648565G>T" "" "VUS" ""
"0000695650" "0" "50" "1" "20975070" "20975070" "subst" "1.62546E-5" "02176" "PINK1_000025" "g.20975070C>T" "" "{PMID:Tang 2006:16632486}" "" "" "" "Germline" "" "" "0" "" "" "g.20648577C>T" "" "VUS" ""
"0000695651" "0" "50" "1" "20975070" "20975070" "subst" "1.62546E-5" "02176" "PINK1_000025" "g.20975070C>T" "" "{PMID:Tang 2006:16632486}" "" "" "combined with PINK1:P399L" "Germline" "" "" "0" "" "" "g.20648577C>T" "" "VUS" ""
"0000695652" "0" "50" "1" "20975094" "20975094" "subst" "0.000101637" "02176" "PINK1_000026" "g.20975094G>A" "" "{PMID:Fung 2005:16257123}" "" "" "" "Germline" "" "" "0" "" "" "g.20648601G>A" "" "VUS" ""
"0000695653" "0" "50" "1" "20975100" "20975100" "subst" "0" "02176" "PINK1_000027" "g.20975100G>T" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20648607G>T" "" "VUS" ""
"0000695654" "0" "50" "1" "20975105" "20975105" "subst" "0.00186268" "02176" "PINK1_000056" "g.20975105G>A" "" "{PMID:Mellick 2008:18486522}" "" "" "" "Germline" "" "" "0" "" "" "g.20648612G>A" "" "VUS" ""
"0000695655" "0" "50" "1" "20975105" "20975105" "subst" "0.00186268" "02176" "PINK1_000056" "g.20975105G>A" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20648612G>A" "" "VUS" ""
"0000695656" "0" "50" "1" "20975105" "20975105" "subst" "0.00186268" "02176" "PINK1_000056" "g.20975105G>A" "" "{PMID:Zadikoff :16547921}" "" "" "" "Germline" "" "" "0" "" "" "g.20648612G>A" "" "VUS" ""
"0000695657" "0" "50" "1" "20975105" "20975105" "subst" "0.00186268" "02176" "PINK1_000056" "g.20975105G>A" "" "{PMID:Toft 2007:17172567}" "" "" "" "Germline" "" "" "0" "" "" "g.20648612G>A" "" "VUS" ""
"0000695658" "0" "50" "1" "20975124" "20975124" "subst" "0" "02176" "PINK1_000028" "g.20975124A>G" "" "{PMID:Hatano 2004:15349870}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000695659" "0" "50" "1" "20975509" "20975509" "subst" "3.2538E-5" "02176" "PINK1_000029" "g.20975509C>T" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20649016C>T" "" "VUS" ""
"0000695660" "0" "50" "1" "20975527" "20975527" "subst" "0" "02176" "PINK1_000057" "g.20975527T>C" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20649034T>C" "" "VUS" ""
"0000695661" "0" "99" "1" "20975547" "20975547" "subst" "4.06415E-6" "02176" "PINK1_000030" "g.20975547G>A" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20649054G>A" "" "pathogenic" ""
"0000695662" "0" "99" "1" "20975547" "20975547" "subst" "4.06415E-6" "02176" "PINK1_000030" "g.20975547G>A" "" "{PMID:Valente 2004:15087508}" "" "" "" "Germline" "" "" "0" "" "" "g.20649054G>A" "" "pathogenic" ""
"0000695663" "0" "99" "1" "20975547" "20975547" "subst" "4.06415E-6" "02176" "PINK1_000030" "g.20975547G>A" "" "{PMID:Marongiu 2008:18330912}" "" "" "" "Germline" "" "" "0" "" "" "g.20649054G>A" "" "pathogenic" ""
"0000695664" "0" "50" "1" "20975561" "20975561" "subst" "0" "02176" "PINK1_000031" "g.20975561T>C" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20649068T>C" "" "VUS" ""
"0000695665" "0" "50" "1" "20975588" "20975588" "subst" "1.21898E-5" "02176" "PINK1_000058" "g.20975588A>G" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20649095A>G" "" "VUS" ""
"0000695666" "0" "99" "1" "20975602" "20975602" "subst" "4.06352E-5" "02176" "PINK1_000032" "g.20975602C>T" "" "{PMID16009891Bonifati 2005}" "" "" "" "Germline" "" "" "0" "" "" "g.20649109C>T" "" "pathogenic" ""
"0000695667" "0" "99" "1" "20975602" "20975602" "subst" "4.06352E-5" "02176" "PINK1_000032" "g.20975602C>T" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20649109C>T" "" "pathogenic" ""
"0000695668" "0" "50" "1" "20975627" "20975627" "subst" "2.43871E-5" "02176" "PINK1_000033" "g.20975627G>A" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20649134G>A" "" "VUS" ""
"0000695669" "0" "50" "1" "20975662" "20975662" "subst" "0.00307063" "02176" "PINK1_000034" "g.20975662G>A" "" "{PMID:Bonifati 2005:16009891}" "" "" "" "Germline" "" "" "0" "" "" "g.20649169G>A" "" "VUS" ""
"0000695670" "0" "50" "1" "20975662" "20975662" "subst" "0.00307063" "02176" "PINK1_000034" "g.20975662G>A" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20649169G>A" "" "VUS" ""
"0000695671" "0" "50" "1" "20975702" "20975702" "subst" "0" "02176" "PINK1_000035" "g.20975702T>C" "" "{PMID:Rogaeva 2004:15596610}" "" "" "" "Germline" "" "" "0" "" "" "g.20649209T>C" "" "VUS" ""
"0000695672" "0" "99" "1" "20975710" "20975710" "subst" "7.74612E-5" "02176" "PINK1_000036" "g.20975710C>T" "" "{PMID:Hatano 2004:15349870}" "" "" "" "Germline" "" "" "0" "" "" "g.20649217C>T" "" "pathogenic" ""
"0000695673" "0" "99" "1" "20975710" "20975710" "subst" "7.74612E-5" "02176" "PINK1_000036" "g.20975710C>T" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20649217C>T" "" "pathogenic" ""
"0000695674" "0" "50" "1" "20976931" "20976931" "subst" "0" "02176" "PINK1_000063" "g.20976931C>T" "1" "{PMID:Toft 2007:17172567}" "" "" "" "Germline" "" "" "0" "" "" "g.20650438C>T" "" "VUS" ""
"0000695675" "0" "50" "1" "20976940" "20976940" "subst" "4.06759E-6" "02176" "PINK1_000060" "g.20976940G>C" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20650447G>C" "" "VUS" ""
"0000695676" "0" "99" "1" "20976995" "20976995" "del" "4.06081E-6" "02176" "PINK1_000037" "g.20976995del" "" "{PMID:Ibanez 2006:16401616}" "" "1557delG" "" "Germline" "" "" "0" "" "" "g.20650502del" "" "pathogenic" ""
"0000695677" "0" "50" "1" "20977000" "20977000" "subst" "0.293036" "02176" "PINK1_000062" "g.20977000A>C" "3" "{PMID:Weng 2007:17960343}" "" "" "" "Germline" "" "" "0" "" "" "g.20650507A>C" "" "VUS" ""
"0000695678" "0" "50" "1" "20977011" "20977011" "subst" "7.30911E-5" "02176" "PINK1_000039" "g.20977011G>A" "" "{PMID:Valente 2004:15349860}" "" "" "" "Germline" "" "" "0" "" "" "g.20650518G>A" "" "VUS" ""
"0000695679" "0" "99" "1" "20977008" "20977011" "dup" "0" "02176" "PINK1_000038" "g.20977008_20977011dup" "" "{PMID:Bonifati 2005:16009891}" "" "1573_1574insTTAG" "" "Germline" "" "" "0" "" "" "g.20650515_20650518dup" "" "pathogenic" ""
"0000695680" "0" "99" "1" "20977008" "20977011" "dup" "0" "02176" "PINK1_000038" "g.20977008_20977011dup" "" "{PMID:Rohe 2004:15349871}" "" "1573_1574insTTAG" "" "Germline" "" "" "0" "" "" "g.20650515_20650518dup" "" "pathogenic" ""
"0000695681" "0" "50" "1" "20977038" "20977040" "dup" "0" "02176" "PINK1_000040" "g.20977038_20977040dup" "" "{PMID:Klein 2005:15970950}" "" "1602_1603insCAA" "" "Germline" "" "" "0" "" "" "g.20650545_20650547dup" "" "VUS" ""
"0000695682" "0" "99" "1" "20977085" "20977088" "del" "0" "02176" "PINK1_000041" "g.20977085_20977088del" "" "{PMID:Ibanez 2006:16401616}" "" "" "" "Germline" "" "" "0" "" "" "g.20650592_20650595del" "" "pathogenic" ""
"0000695683" "0" "50" "1" "20977161" "20977161" "subst" "0" "02176" "PINK1_000061" "g.20977161T>C" "" "{PMID:Tan 2007:17385668}" "" "" "" "Germline" "" "" "0" "" "" "g.20650668T>C" "" "VUS" ""
"0000695684" "0" "99" "1" "20975486" "20975508" "del" "0" "02176" "PINK1_000064" "g.20975486_20975508del" "" "{PMID:Marongiu 2008:17154281}" "" "g.15445_15467del23" "" "Germline" "" "" "0" "" "" "g.20648993_20649015del" "" "pathogenic" ""
"0000717123" "0" "50" "1" "20980247" "20980247" "subst" "6.11142E-5" "01943" "DDOST_000016" "g.20980247T>C" "" "" "" "DDOST(NM_005216.4):c.866A>G (p.Y289C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799042" "0" "50" "1" "20964401" "20964401" "subst" "2.84271E-5" "01943" "PINK1_000098" "g.20964401C>T" "" "" "" "PINK1(NM_032409.2):c.454C>T (p.R152W, p.(Arg152Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799043" "0" "50" "1" "20964596" "20964596" "subst" "1.22693E-5" "01943" "PINK1_000099" "g.20964596G>A" "" "" "" "PINK1(NM_032409.2):c.649G>A (p.A217T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000799044" "0" "30" "1" "20975135" "20975135" "subst" "0.000150859" "01943" "DDOST_000017" "g.20975135G>A" "" "" "" "PINK1(NM_032409.2):c.1251+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799045" "0" "30" "1" "20975598" "20975598" "subst" "0.000329191" "01943" "DDOST_000018" "g.20975598C>T" "" "" "" "PINK1(NM_032409.2):c.1362C>T (p.Y454=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000799046" "0" "50" "1" "20977011" "20977011" "subst" "7.30911E-5" "01943" "PINK1_000039" "g.20977011G>A" "" "" "" "PINK1(NM_032409.2):c.1573G>A (p.D525N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000848501" "0" "50" "1" "20972169" "20972169" "subst" "2.43663E-5" "01943" "PINK1_000100" "g.20972169C>T" "" "" "" "PINK1(NM_032409.2):c.1076C>T (p.A359V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000857245" "0" "50" "1" "20971144" "20971144" "subst" "1.6254E-5" "01943" "PINK1_000051" "g.20971144C>T" "" "" "" "PINK1(NM_032409.2):c.938C>T (p.T313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000883091" "0" "30" "1" "20972158" "20972158" "subst" "8.12183E-5" "02329" "PINK1_000101" "g.20972158A>G" "" "" "" "PINK1(NM_032409.3):c.1065A>G (p.Q355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000910921" "0" "10" "1" "20977221" "20977221" "subst" "0.862221" "02325" "DDOST_000019" "g.20977221A>T" "" "" "" "PINK1(NM_032409.3):c.*37A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000923063" "0" "10" "1" "20975047" "20975047" "subst" "0.00293403" "02329" "DDOST_000020" "g.20975047T>C" "" "" "" "PINK1(NM_032409.3):c.1173T>C (p.D391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000973600" "0" "10" "1" "20976940" "20976940" "subst" "0.00250157" "02329" "DDOST_000007" "g.20976940G>A" "" "" "" "PINK1(NM_032409.3):c.1502G>A (p.R501Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000973601" "0" "50" "1" "20980798" "20980798" "subst" "9.09244E-5" "01804" "DDOST_000021" "g.20980798C>T" "" "" "" "DDOST(NM_005216.5):c.712G>A (p.(Val238Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000973602" "0" "30" "1" "20981976" "20981976" "subst" "0.000767513" "01804" "DDOST_000004" "g.20981976C>T" "" "" "" "DDOST(NM_005216.5):c.508G>A (p.(Val170Ile), p.V170I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000973603" "0" "50" "1" "20982638" "20982638" "subst" "7.3097E-5" "01804" "DDOST_000022" "g.20982638A>G" "" "" "" "DDOST(NM_005216.5):c.308T>C (p.(Ile103Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000990789" "0" "50" "1" "20964401" "20964401" "subst" "2.84271E-5" "01804" "PINK1_000098" "g.20964401C>T" "" "" "" "PINK1(NM_032409.2):c.454C>T (p.R152W, p.(Arg152Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031624" "0" "50" "1" "20979136" "20979136" "subst" "0.00114111" "01804" "DDOST_000023" "g.20979136G>A" "" "" "" "DDOST(NM_005216.5):c.1148C>T (p.(Thr383Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031625" "0" "50" "1" "20980758" "20980758" "subst" "6.69084E-5" "01804" "DDOST_000024" "g.20980758A>G" "" "" "" "DDOST(NM_005216.5):c.752T>C (p.(Phe251Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001031626" "0" "50" "1" "20982196" "20982196" "subst" "0" "01804" "DDOST_000025" "g.20982196G>C" "" "" "" "DDOST(NM_005216.5):c.429C>G (p.(His143Gln))" "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 PINK1
## Count = 162
"{{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}}"
"0000079559" "00016194" "00" "-419301" "0" "1914972" "0" "c.-419301_*1913226del" "r.?" "p.?" ""
"0000247895" "00016194" "10" "1562" "0" "1562" "0" "c.1562A>C" "r.(?)" "p.(Asn521Thr)" ""
"0000248328" "00016194" "10" "388" "-7" "388" "-7" "c.388-7A>G" "r.(=)" "p.(=)" ""
"0000249491" "00016194" "30" "387" "20" "387" "20" "c.387+20A>G" "r.(=)" "p.(=)" ""
"0000249873" "00016194" "10" "1562" "0" "1562" "0" "c.1562A>C" "r.(?)" "p.(Asn521Thr)" ""
"0000249938" "00016194" "10" "344" "0" "344" "0" "c.344A>T" "r.(?)" "p.(Gln115Leu)" ""
"0000250063" "00016194" "10" "388" "-7" "388" "-7" "c.388-7A>G" "r.(=)" "p.(=)" ""
"0000250183" "00016194" "10" "1124" "-196" "1124" "-196" "c.1124-196A>G" "r.(=)" "p.(=)" ""
"0000253097" "00016194" "10" "1562" "0" "1562" "0" "c.1562A>C" "r.(?)" "p.(Asn521Thr)" ""
"0000253162" "00016194" "10" "344" "0" "344" "0" "c.344A>T" "r.(?)" "p.(Gln115Leu)" ""
"0000256317" "00016194" "50" "952" "0" "952" "0" "c.952A>T" "r.(?)" "p.(Met318Leu)" ""
"0000267298" "00016194" "10" "6713" "0" "6713" "0" "c.*4967G>A" "r.(=)" "p.(=)" ""
"0000267299" "00016194" "30" "6538" "0" "6538" "0" "c.*4792C>T" "r.(=)" "p.(=)" ""
"0000267300" "00016194" "10" "5442" "0" "5442" "0" "c.*3696G>A" "r.(=)" "p.(=)" ""
"0000296972" "00016194" "30" "-28" "0" "-20" "0" "c.-28_-20del" "r.(?)" "p.(=)" ""
"0000296973" "00016194" "90" "1040" "0" "1040" "0" "c.1040T>C" "r.(?)" "p.(Leu347Pro)" ""
"0000296974" "00016194" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Asp375=)" ""
"0000296975" "00016194" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" ""
"0000296976" "00016194" "90" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Ter)" ""
"0000296977" "00016194" "50" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Thr145Met)" ""
"0000296978" "00016194" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" ""
"0000296979" "00016194" "30" "960" "-11" "960" "-11" "c.960-11C>T" "r.(=)" "p.(=)" ""
"0000296980" "00016194" "10" "960" "-5" "960" "-5" "c.960-5G>A" "r.spl?" "p.?" ""
"0000298867" "00016194" "10" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Ala340Thr)" ""
"0000298868" "00016194" "10" "1123" "124" "1123" "124" "c.1123+124G>A" "r.(=)" "p.(=)" ""
"0000298869" "00016194" "10" "1123" "161" "1123" "161" "c.1123+161del" "r.(=)" "p.(=)" ""
"0000298870" "00016194" "10" "1123" "91" "1123" "104" "c.1123+91_1123+104del" "r.(=)" "p.(=)" ""
"0000298871" "00016194" "10" "1489" "-168" "1489" "-168" "c.1489-168C>T" "r.(=)" "p.(=)" ""
"0000298872" "00016194" "10" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" ""
"0000298873" "00016194" "10" "388" "-65" "388" "-65" "c.388-65C>G" "r.(=)" "p.(=)" ""
"0000298874" "00016194" "10" "960" "-142" "960" "-142" "c.960-142G>C" "r.(=)" "p.(=)" ""
"0000298875" "00016194" "10" "960" "-424" "960" "-424" "c.960-424G>A" "r.(=)" "p.(=)" ""
"0000298876" "00016194" "10" "960" "-5" "960" "-5" "c.960-5G>A" "r.spl?" "p.?" ""
"0000305673" "00016194" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" ""
"0000305674" "00016194" "10" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Ala340Thr)" ""
"0000305675" "00016194" "30" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" ""
"0000305676" "00016194" "90" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Gln456Ter)" ""
"0000305677" "00016194" "90" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492Ter)" ""
"0000305679" "00016194" "10" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Leu63=)" ""
"0000305680" "00016194" "90" "326" "0" "326" "0" "c.326del" "r.(?)" "p.(Gly109AlafsTer49)" ""
"0000305681" "00016194" "10" "388" "-65" "388" "-64" "c.388-65_388-64del" "r.(=)" "p.(=)" ""
"0000305683" "00016194" "90" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Ala168Pro)" ""
"0000305684" "00016194" "30" "565" "0" "565" "0" "c.565G>A" "r.(?)" "p.(Gly189Arg)" ""
"0000305685" "00016194" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" ""
"0000305686" "00016194" "30" "776" "10" "776" "10" "c.776+10C>T" "r.(=)" "p.(=)" ""
"0000305687" "00016194" "30" "936" "0" "936" "0" "c.936G>A" "r.(?)" "p.(Arg312=)" ""
"0000337470" "00016194" "10" "388" "-7" "388" "-7" "c.388-7A>G" "r.(=)" "p.(=)" ""
"0000337471" "00016194" "10" "960" "-5" "960" "-5" "c.960-5G>A" "r.spl?" "p.?" ""
"0000343778" "00016194" "10" "1562" "0" "1562" "0" "c.1562A>C" "r.(?)" "p.(Asn521Thr)" ""
"0000406047" "00016194" "70" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.(Cys388Arg)" ""
"0000505028" "00016194" "50" "701" "0" "701" "0" "c.701T>C" "r.(?)" "p.(Leu234Ser)" ""
"0000505029" "00016194" "50" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Met237Val)" ""
"0000505030" "00016194" "50" "709" "0" "709" "0" "c.709A>G" "r.(?)" "p.(Met237Val)" ""
"0000505031" "00016194" "10" "960" "-56" "960" "-56" "c.960-56dup" "r.(=)" "p.(=)" ""
"0000505032" "00016194" "30" "960" "-10" "960" "-10" "c.960-10T>C" "r.(=)" "p.(=)" ""
"0000505033" "00016194" "30" "1021" "0" "1021" "0" "c.1021A>G" "r.(?)" "p.(Met341Val)" ""
"0000505034" "00016194" "30" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" ""
"0000505036" "00016194" "30" "1564" "0" "1564" "0" "c.1564C>T" "r.(?)" "p.(Leu522=)" ""
"0000505037" "00016194" "90" "1570" "0" "1573" "0" "c.1570_1573dup" "r.(?)" "p.(Asp525ValfsTer38)" ""
"0000505046" "00016194" "10" "7193" "0" "7193" "0" "c.*5447G>A" "r.(=)" "p.(=)" ""
"0000605119" "00016194" "30" "241" "0" "241" "0" "c.241T>C" "r.(?)" "p.(Leu81=)" ""
"0000647529" "00016194" "90" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" ""
"0000647530" "00016194" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" ""
"0000647531" "00016194" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Pro399Leu)" ""
"0000653869" "00016194" "30" "434" "0" "434" "0" "c.434C>T" "r.(?)" "p.(Thr145Met)" ""
"0000653871" "00016194" "30" "5361" "0" "5361" "0" "c.*3615G>A" "r.(=)" "p.(=)" ""
"0000695606" "00016194" "99" "70" "0" "101" "0" "c.70_101del" "r.(?)" "p.(Lys24Glyfs*31)" "1"
"0000695607" "00016194" "50" "203" "0" "204" "0" "c.203_204delinsCT" "r.(?)" "p.(Arg68Pro)" "1"
"0000695608" "00016194" "50" "275" "0" "275" "0" "c.275G>T" "r.(?)" "p.(Cys92Phe)" "1"
"0000695609" "00016194" "50" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "1"
"0000695610" "00016194" "50" "332" "0" "332" "0" "c.332T>G" "r.(?)" "p.(Ile111Ser)" "1"
"0000695611" "00016194" "50" "373" "0" "373" "0" "c.373T>G" "r.(?)" "p.(Cys125Gly)" "1"
"0000695613" "00016194" "50" "440" "0" "440" "0" "c.440G>A" "r.(?)" "p.(Arg147His)" "2"
"0000695614" "00016194" "50" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Ala168Pro)" "2"
"0000695615" "00016194" "50" "502" "0" "502" "0" "c.502G>C" "r.(?)" "p.(Ala168Pro)" "2"
"0000695616" "00016194" "50" "558" "0" "558" "0" "c.558G>C" "r.(?)" "p.(Lys186Asn)" "2"
"0000695617" "00016194" "50" "577" "0" "577" "0" "c.577G>A" "r.(?)" "p.G193R" "2"
"0000695618" "00016194" "50" "587" "0" "587" "0" "c.587C>T" "r.(?)" "p.(Pro196Leu)" "2"
"0000695619" "00016194" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Pro209Leu)" "2"
"0000695620" "00016194" "50" "650" "0" "650" "0" "c.650C>A" "r.(?)" "p.(Ala217Asp)" "2"
"0000695621" "00016194" "50" "692" "0" "692" "0" "c.692A>G" "r.(?)" "p.(Glu231Gly)" "3"
"0000695622" "00016194" "99" "715" "0" "715" "0" "c.715C>T" "r.(?)" "p.(Gln239*)" "3"
"0000695623" "00016194" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Glu240Lys)" "3"
"0000695624" "00016194" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Glu240Lys)" "3"
"0000695625" "00016194" "99" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "3"
"0000695626" "00016194" "99" "736" "0" "736" "0" "c.736C>T" "r.(?)" "p.(Arg246*)" "3"
"0000695627" "00016194" "99" "774" "0" "774" "0" "c.774C>A" "r.(?)" "p.(Tyr258*)" "3"
"0000695629" "00016194" "50" "802" "0" "802" "0" "c.802C>G" "r.(?)" "p.(Leu268Val)" "4"
"0000695630" "00016194" "50" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(His271Gln)" "4"
"0000695631" "00016194" "50" "836" "0" "836" "0" "c.836G>A" "r.(?)" "p.(Arg279His)" "4"
"0000695632" "00016194" "50" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Ala280Thr)" "4"
"0000695633" "00016194" "50" "887" "0" "887" "0" "c.887C>T" "r.(?)" "p.(Pro296Leu)" "4"
"0000695634" "00016194" "99" "889" "0" "889" "0" "c.889del" "r.(?)" "p.(Asp297Metfs*22)" "4"
"0000695635" "00016194" "50" "926" "0" "926" "0" "c.926G>A" "r.(?)" "p.(Gly309Asp)" "4"
"0000695636" "00016194" "50" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" "4"
"0000695637" "00016194" "50" "949" "0" "949" "0" "c.949G>A" "r.(?)" "p.(Val317Ile)" "4"
"0000695638" "00016194" "50" "952" "0" "952" "0" "c.952A>T" "r.(?)" "p.(Met318Leu)" "4"
"0000695639" "00016194" "50" "965" "0" "965" "0" "c.965C>T" "r.(?)" "p.(Pro322Leu)" "5"
"0000695640" "00016194" "50" "1015" "0" "1015" "0" "c.1015G>A" "r.(?)" "p.(Ala339Thr)" "5"
"0000695641" "00016194" "50" "1018" "0" "1018" "0" "c.1018G>A" "r.(?)" "p.(Ala340Thr)" "5"
"0000695642" "00016194" "50" "1040" "0" "1040" "0" "c.1040T>C" "r.(?)" "p.(Leu347Pro)" "5"
"0000695643" "00016194" "50" "1040" "0" "1040" "0" "c.1040T>C" "r.(?)" "p.(Leu347Pro)" "5"
"0000695644" "00016194" "50" "1106" "0" "1106" "0" "c.1106T>C" "r.(?)" "p.(Leu369Pro)" "5"
"0000695645" "00016194" "99" "0" "0" "0" "0" "c.1123+1247_*820{0}" "r.spl" "p.?" "5i_8_"
"0000695646" "00016194" "50" "1147" "0" "1147" "0" "c.1147G>A" "r.(?)" "p.(Ala383Thr)" "6"
"0000695647" "00016194" "50" "1157" "0" "1157" "0" "c.1157G>C" "r.(?)" "p.(Gly386Ala)" "6"
"0000695648" "00016194" "50" "1162" "0" "1162" "0" "c.1162T>C" "r.(?)" "p.(Cys388Arg)" "6"
"0000695649" "00016194" "50" "1184" "0" "1184" "0" "c.1184G>T" "r.(?)" "p.(Gly395Val)" "6"
"0000695650" "00016194" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Pro399Leu)" "6"
"0000695651" "00016194" "50" "1196" "0" "1196" "0" "c.1196C>T" "r.(?)" "p.(Pro399Leu)" "6"
"0000695652" "00016194" "50" "1220" "0" "1220" "0" "c.1220G>A" "r.(?)" "p.(Arg407Gln)" "6"
"0000695653" "00016194" "50" "1226" "0" "1226" "0" "c.1226G>T" "r.(?)" "p.(Gly409Val)" "6"
"0000695654" "00016194" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" "6"
"0000695655" "00016194" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" "6"
"0000695656" "00016194" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" "6"
"0000695657" "00016194" "50" "1231" "0" "1231" "0" "c.1231G>A" "r.(?)" "p.(Gly411Ser)" "6"
"0000695658" "00016194" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.Glu417Gly" "6"
"0000695659" "00016194" "50" "1273" "0" "1273" "0" "c.1273C>T" "r.(?)" "p.(Pro425Ser)" "6"
"0000695660" "00016194" "50" "1291" "0" "1291" "0" "c.1291T>C" "r.(?)" "p.(Tyr431His)" "7"
"0000695661" "00016194" "99" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Trp437*)" "7"
"0000695662" "00016194" "99" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Trp437*)" "7"
"0000695663" "00016194" "99" "1311" "0" "1311" "0" "c.1311G>A" "r.(?)" "p.(Trp437*)" "7"
"0000695664" "00016194" "50" "1325" "0" "1325" "0" "c.1325T>C" "r.(?)" "p.(Ile442Thr)" "7"
"0000695665" "00016194" "50" "1352" "0" "1352" "0" "c.1352A>G" "r.(?)" "p.(Asn451Ser)" "7"
"0000695666" "00016194" "99" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Gln456*)" "7"
"0000695667" "00016194" "99" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Gln456*)" "7"
"0000695668" "00016194" "50" "1391" "0" "1391" "0" "c.1391G>A" "r.(?)" "p.(Arg464His)" "7"
"0000695669" "00016194" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "7"
"0000695670" "00016194" "50" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Glu476Lys)" "7"
"0000695671" "00016194" "50" "1466" "0" "1466" "0" "c.1466T>C" "r.(?)" "p.(Leu489Pro)" "7"
"0000695672" "00016194" "99" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492*)" "7"
"0000695673" "00016194" "99" "1474" "0" "1474" "0" "c.1474C>T" "r.(?)" "p.(Arg492*)" "7"
"0000695674" "00016194" "50" "1493" "0" "1493" "0" "c.1493C>T" "r.(?)" "p.(Pro498Leu)" "8"
"0000695675" "00016194" "50" "1502" "0" "1502" "0" "c.1502G>C" "r.(?)" "p.(Arg501Pro)" "8"
"0000695676" "00016194" "99" "1557" "0" "1557" "0" "c.1557del" "r.(?)" "p.(Lys520Argfs*3)" "8"
"0000695677" "00016194" "50" "1562" "0" "1562" "0" "c.1562A>C" "r.(?)" "p.(Asn521Thr)" "8"
"0000695678" "00016194" "50" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Asp525Asn)" "8"
"0000695679" "00016194" "99" "1570" "0" "1573" "0" "c.1570_1573dup" "r.(?)" "p.(Asp525Valfs*38)" "8"
"0000695680" "00016194" "99" "1570" "0" "1573" "0" "c.1570_1573dup" "r.(?)" "p.(Asp525Valfs*38)" "8"
"0000695681" "00016194" "50" "1600" "0" "1602" "0" "c.1600_1602dup" "r.(?)" "p.(Gln534dup)" "8"
"0000695682" "00016194" "99" "1647" "0" "1650" "0" "c.1647_1650del" "r.(?)" "p.(Cys549Trpfs*5)" "8"
"0000695683" "00016194" "50" "1723" "0" "1723" "0" "c.1723T>C" "r.(?)" "p.(Cys575Arg)" "8"
"0000695684" "00016194" "99" "1252" "-2" "1272" "0" "c.1252-2_1272del" "r[1252_1488del,1252_1368del,1252_1315del,1252_1277del,1251_1252ins1251+1_1252-3]" "p.?" "6i_7"
"0000717123" "00016194" "50" "4809" "0" "4809" "0" "c.*3063T>C" "r.(=)" "p.(=)" ""
"0000799042" "00016194" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Trp)" ""
"0000799043" "00016194" "50" "649" "0" "649" "0" "c.649G>A" "r.(?)" "p.(Ala217Thr)" ""
"0000799044" "00016194" "30" "1251" "10" "1251" "10" "c.1251+10G>A" "r.(=)" "p.(=)" ""
"0000799045" "00016194" "30" "1362" "0" "1362" "0" "c.1362C>T" "r.(?)" "p.(Tyr454=)" ""
"0000799046" "00016194" "50" "1573" "0" "1573" "0" "c.1573G>A" "r.(?)" "p.(Asp525Asn)" ""
"0000848501" "00016194" "50" "1076" "0" "1076" "0" "c.1076C>T" "r.(?)" "p.(Ala359Val)" ""
"0000857245" "00016194" "50" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Thr313Met)" ""
"0000883091" "00016194" "30" "1065" "0" "1065" "0" "c.1065A>G" "r.(?)" "p.(Gln355=)" ""
"0000910921" "00016194" "10" "1783" "0" "1783" "0" "c.*37A>T" "r.(=)" "p.(=)" ""
"0000923063" "00016194" "10" "1173" "0" "1173" "0" "c.1173T>C" "r.(?)" "p.(Asp391=)" ""
"0000973600" "00016194" "10" "1502" "0" "1502" "0" "c.1502G>A" "r.(?)" "p.(Arg501Gln)" ""
"0000973601" "00016194" "50" "5360" "0" "5360" "0" "c.*3614C>T" "r.(=)" "p.(=)" ""
"0000973602" "00016194" "30" "6538" "0" "6538" "0" "c.*4792C>T" "r.(=)" "p.(=)" ""
"0000973603" "00016194" "50" "7200" "0" "7200" "0" "c.*5454A>G" "r.(=)" "p.(=)" ""
"0000990789" "00016194" "50" "454" "0" "454" "0" "c.454C>T" "r.(?)" "p.(Arg152Trp)" ""
"0001031624" "00016194" "50" "3698" "0" "3698" "0" "c.*1952G>A" "r.(=)" "p.(=)" ""
"0001031625" "00016194" "50" "5320" "0" "5320" "0" "c.*3574A>G" "r.(=)" "p.(=)" ""
"0001031626" "00016194" "50" "6758" "0" "6758" "0" "c.*5012G>C" "r.(=)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 82
"{{screeningid}}" "{{variantid}}"
"0000050579" "0000079559"
"0000182170" "0000406047"
"0000290840" "0000647529"
"0000290841" "0000647530"
"0000290842" "0000647531"
"0000313703" "0000695606"
"0000313704" "0000695607"
"0000313705" "0000695608"
"0000313706" "0000695609"
"0000313707" "0000695610"
"0000313708" "0000695611"
"0000313710" "0000695613"
"0000313711" "0000695614"
"0000313712" "0000695615"
"0000313713" "0000695616"
"0000313714" "0000695617"
"0000313715" "0000695618"
"0000313716" "0000695619"
"0000313717" "0000695620"
"0000313718" "0000695621"
"0000313719" "0000695622"
"0000313720" "0000695623"
"0000313721" "0000695624"
"0000313722" "0000695625"
"0000313723" "0000695626"
"0000313724" "0000695627"
"0000313726" "0000695629"
"0000313727" "0000695630"
"0000313728" "0000695631"
"0000313729" "0000695632"
"0000313730" "0000695633"
"0000313731" "0000695634"
"0000313732" "0000695635"
"0000313733" "0000695636"
"0000313734" "0000695637"
"0000313735" "0000695638"
"0000313736" "0000695639"
"0000313737" "0000695640"
"0000313738" "0000695641"
"0000313739" "0000695642"
"0000313740" "0000695643"
"0000313741" "0000695644"
"0000313742" "0000695645"
"0000313743" "0000695646"
"0000313744" "0000695647"
"0000313745" "0000695648"
"0000313746" "0000695649"
"0000313747" "0000695650"
"0000313748" "0000695651"
"0000313749" "0000695652"
"0000313750" "0000695653"
"0000313751" "0000695654"
"0000313752" "0000695655"
"0000313753" "0000695656"
"0000313754" "0000695657"
"0000313755" "0000695658"
"0000313756" "0000695659"
"0000313757" "0000695660"
"0000313758" "0000695661"
"0000313759" "0000695662"
"0000313760" "0000695663"
"0000313761" "0000695664"
"0000313762" "0000695665"
"0000313763" "0000695666"
"0000313764" "0000695667"
"0000313765" "0000695668"
"0000313766" "0000695669"
"0000313767" "0000695670"
"0000313768" "0000695671"
"0000313769" "0000695672"
"0000313770" "0000695673"
"0000313771" "0000695674"
"0000313772" "0000695675"
"0000313773" "0000695676"
"0000313774" "0000695677"
"0000313775" "0000695678"
"0000313776" "0000695679"
"0000313777" "0000695680"
"0000313778" "0000695681"
"0000313779" "0000695682"
"0000313780" "0000695683"
"0000313781" "0000695684"