### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PNKP) # 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}}" "PNKP" "polynucleotide kinase 3\'-phosphatase" "19" "q13.3-q13.4" "unknown" "NG_027717.1" "UD_132118559416" "" "https://www.LOVD.nl/PNKP" "" "1" "9154" "11284" "605610" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/PNKP_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-11-16 21:57:15" "00006" "2025-12-04 10:36:49" ## 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}}" "00016427" "PNKP" "polynucleotide kinase 3\'-phosphatase" "001" "NM_007254.3" "" "NP_009185.2" "" "" "" "-110" "1611" "1566" "50370822" "50364460" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00344" "EE" "encephalopathy, epileptic (EE)" "" "" "" "" "" "00006" "2014-03-12 21:57:45" "00006" "2015-12-07 07:11:25" "02557" "CMT2B2" "Charcot-Marie-Tooth disease, axonal, type 2B2" "AR" "605589" "" "onset adulthood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), no cognitive impairment (-HP:0100543), no dystonia (-HP:0001332)" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-10 21:15:06" "03326" "MCSZ;EIEE10" "microcephaly, seizures, and developmental delay (MCSZ, encephalopathy, epileptic, early infantile, type 10)" "AR" "613402" "" "onset infancy, no cerebellar ataxia (-HP:0001251), no cerebellar atrophy (-HP:0001272), no peripheral neuropathy (-HP:0009830), no muscle weakness (-HP:0001324), developmental delay (HP:0001263), seizures (HP:0001250), no hyporeflexia (-HP:0001265), cognitive impairment (HP:0100543), no oculomotor apraxia (-HP:0000657), no dystonia (-HP:0001332)" "" "00006" "2014-09-25 23:29:40" "00006" "2024-09-10 21:09:25" "04616" "AOA4" "ataxia-oculomotor apraxia, type 4 (AOA-4)" "AR" "616267" "" "onset infancy-adulthood, cerebellar ataxia (HP:0001251), cerebellar atrophy (HP:0001272), peripheral neuropathy (HP:0009830), distal muscle weakness (HP:0002460), no developmental delay (-HP:0001263), no seizures (-HP:0001250), hyporeflexia (HP:0001265), cognitive impairment (HP:0100543), oculomotor apraxia (HP:0000657), dystonia (HP:0001332)" "" "00000" "2015-09-23 10:25:23" "00006" "2024-09-10 21:11:43" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05428" "atrophy, cerebellar" "atrophy, cerebellar" "" "" "" "" "" "00006" "2018-05-11 14:19:31" "" "" "05519" "AOA" "ataxia-oculomotor apraxia (AOA)" "" "" "" "" "" "00006" "2018-11-17 09:09:11" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06877" "DFNA" "deafness, nonsyndromic (DFNA, autosomal dominant)" "" "" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "PNKP" "00139" "PNKP" "02557" "PNKP" "03326" "PNKP" "04616" "PNKP" "05519" ## Individuals ## Do not remove or alter this header ## ## Count = 36 "{{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}}" "00132291" "" "" "" "8" "" "00088" "{PMID:Eisenberger 2018:29309402}" "4-generation family, 8 affected (4F, 4M)" "M" "no" "Germany" "" "0" "" "" "white" "FamPatIV2" "00206896" "" "" "" "1" "" "00006" "{PMID:Shen 2010:20118933}" "5-generation family, 3 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "Jordan;Palestine" "" "0" "" "" "Palestine" "20118933_Fam1" "00206897" "" "" "" "2" "" "00006" "{PMID:Shen 2010:20118933}" "4-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives" "F;M" "" "Jordan;Palestine" "" "0" "" "" "Palestine" "20118933_Fam2" "00206898" "" "" "" "2" "" "00006" "{PMID:Shen 2010:20118933}" "6-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives" "M" "yes" "United States" "" "0" "" "" "Palestine" "20118933_Fam3" "00206899" "" "" "" "2" "" "00006" "{PMID:Shen 2010:20118933}" "2-generation family, affectedher/sister brot, unaffected heterozygous carrier parents" "F;M" "no" "Saudi Arabia" "" "0" "" "" "" "20118933_Fam4" "00206900" "" "" "" "1" "" "00006" "{PMID:Shen 2010:20118933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Turkey" "" "0" "" "" "" "20118933_Fam5" "00206901" "" "" "" "2" "" "00006" "{PMID:Shen 2010:20118933}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "" "Germany;Ireland" "" "0" "" "" "" "20118933_Fam6" "00206902" "" "" "" "2" "" "00006" "{PMID:Shen 2010:20118933}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F;M" "" "United States" "" "0" "" "" "Sweden;Italy;Ireland;England" "20118933-Fam7" "00206903" "" "" "" "3" "" "00006" "{PMID:Poulton 2013:23224214}" "8-generation family, 3 affected (3M), unaffected heterozygous carrier parents/relatives" "M" "yes" "Netherlands" "" "0" "" "" "" "23224214-Fam" "00206904" "" "" "" "2" "" "00006" "{PMID:Bras 2015:25728773}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Portugal" "" "0" "" "" "" "25728773-Fam1Pat1" "00206905" "" "" "00206904" "1" "" "00006" "{PMID:Bras 2015:25728773}" "sister" "F" "" "Portugal" "" "0" "" "" "" "25728773-Fam1Pat2" "00206906" "" "" "" "1" "" "00006" "{PMID:Bras 2015:25728773}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Portugal" "" "0" "" "" "" "25728773-Fam2Pat3" "00206907" "" "" "" "1" "" "00006" "{PMID:Bras 2015:25728773}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Portugal" "" "0" "" "" "" "25728773-Fam3Pat4" "00206908" "" "" "" "1" "" "00006" "{PMID:Bras 2015:25728773}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Portugal" "" "0" "" "" "" "25728773-Fam4Pat5" "00206909" "" "" "" "1" "" "00006" "{PMID:Bras 2015:25728773}" "3-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Portugal" "" "0" "" "" "" "25728773-Fam5Pat6" "00206910" "" "" "" "1" "" "00006" "{PMID:Bras 2015:25728773}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Portugal" "" "0" "" "" "" "25728773-Fam6Pat7" "00206911" "" "" "" "2" "" "00006" "{PMID:Bras 2015:25728773}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F" "yes" "Portugal" "" "0" "" "" "" "25728773-Fam7Pat8" "00206912" "" "" "00206911" "1" "" "00006" "{PMID:Bras 2015:25728773}" "brother" "M" "yes" "Portugal" "" "0" "" "" "" "25728773-Fam7Pat9" "00206913" "" "" "" "2" "" "00006" "{PMID:Bras 2015:25728773}" "3-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Portugal" "" "0" "" "" "" "25728773-Fam8Pat10" "00206914" "" "" "00206913" "1" "" "00006" "{PMID:Bras 2015:25728773}" "brother" "M" "" "Portugal" "" "0" "" "" "" "25728773-Fam8Pat11" "00225668" "" "" "" "1" "" "00006" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "" "yes" "Saudi Arabia" "" "0" "" "" "" "25558065-Fam11DG1510" "00269530" "" "" "" "1" "" "03512" "{PMID:Minardi 2020:32725632}" "" "F" "" "Italy" "" "0" "" "" "" "" "00269879" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00275659" "" "" "" "3" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "4-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR121Pat1" "00275660" "" "" "00275659" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "M" "yes" "Pakistan" "" "0" "" "" "" "FamMR121Pat2" "00275661" "" "" "00275659" "1" "" "00006" "{PMID:Santos-Cortez 2018:30167849}" "" "F" "yes" "Pakistan" "" "0" "" "" "" "FamMR121Pat3" "00292181" "" "" "" "19" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292182" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303146" "" "" "" "1" "" "00006" "{PMID:Carvill 2013:23708187}" "" "M" "" "" "" "0" "" "" "" "T23141" "00320161" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00361544" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1510" "00374445" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2562" "00403855" "" "" "" "1" "" "00006" "{PMID:Froukh 2020:32056211}" "analysis 103 families with neurodevelopmental disorders" "" "" "Jordan" "" "0" "" "" "" "TF015" "00433357" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021: 34402213}" "patient" "F" "yes" "Turkey" "" "0" "" "" "" "Pat26" "00470602" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat231" "00470603" "" "" "" "1" "" "00006" "{PMID:Wai 2020:32123317}" "studied effect of variant on RNA" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat232" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 36 "{{individualid}}" "{{diseaseid}}" "00132291" "06877" "00206896" "03326" "00206897" "03326" "00206898" "03326" "00206899" "03326" "00206900" "03326" "00206901" "03326" "00206902" "03326" "00206903" "05428" "00206904" "05519" "00206905" "05519" "00206906" "05519" "00206907" "05519" "00206908" "05519" "00206909" "05519" "00206910" "05519" "00206911" "05519" "00206912" "05519" "00206913" "05519" "00206914" "05519" "00225668" "00198" "00269530" "00344" "00269879" "00198" "00275659" "00139" "00275660" "00139" "00275661" "00139" "00292181" "00198" "00292182" "00198" "00303146" "00344" "00320161" "00198" "00361544" "00139" "00374445" "00198" "00403855" "05611" "00433357" "05421" "00470602" "00198" "00470603" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00344, 02557, 03326, 04616, 05421, 05428, 05519, 05611, 06877 ## Count = 32 "{{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}}" "0000154688" "03326" "00206896" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCSZ" "microcephaly, seizures, developmental delay" "" "0000154689" "03326" "00206897" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "microcephaly, seizures, developmental delay" "" "0000154690" "03326" "00206898" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCSZ" "microcephaly, seizures, developmental delay" "" "0000154691" "03326" "00206899" "00006" "Familial, autosomal recessive" "" "see paper" "" "" "" "" "" "" "" "" "MCSZ" "microcephaly, seizures, developmental delay" "" "0000154692" "03326" "00206900" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCSZ" "microcephaly, seizures, developmental delay" "" "0000154693" "03326" "00206901" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCSZ" "microcephaly, seizures, developmental delay" "" "0000154694" "03326" "00206902" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCSZ" "microcephaly, seizures, developmental delay" "" "0000154695" "05428" "00206903" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "MCSZ" "progressive cerebellar atrophy, polyneuropathy" "" "0000154696" "05519" "00206904" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154697" "05519" "00206905" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154698" "05519" "00206906" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154699" "05519" "00206907" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154700" "05519" "00206908" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154701" "05519" "00206909" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154702" "05519" "00206910" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154703" "05519" "00206911" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154704" "05519" "00206912" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154705" "05519" "00206913" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000154706" "05519" "00206914" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "AOA-4" "ataxia-oculomotor apraxia" "" "0000170774" "00198" "00225668" "00006" "Familial, autosomal recessive" "" "see paper; …, primary microcephaly, global developmental delay, no seizures" "" "" "" "" "" "" "" "" "" "neurogenetic disorder" "" "0000207361" "00344" "00269530" "03512" "Familial, autosomal recessive" "" "Epileptic Encephalopathy (HP:0200134)" "" "" "" "" "" "" "" "" "" "" "" "0000207675" "00198" "00269879" "01807" "Unknown" "" "Microcephaly (HP:0000252); Spasticity (HP:0001257); Global developmental delay (HP:0001263); Limb joint contracture (HP:0003121); Muscular hypotonia of the trunk (HP:0008936)" "" "" "" "" "" "" "" "" "" "" "" "0000210270" "00139" "00275659" "00006" "Familial, autosomal recessive" "13y" "OFC 41cm; IQ 25, severe intellectual disability (HP:0010864); microcephaly" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210271" "00139" "00275660" "00006" "Familial, autosomal recessive" "9y" "OFC 40cm; IQ 25, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000210272" "00139" "00275661" "00006" "Familial, autosomal recessive" "15y" "OFC 40cm; IQ 25, severe intellectual disability (HP:0010864)" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000230230" "00344" "00303146" "00006" "Familial, autosomal recessive" "" "epileptic encephalopathy" "" "" "" "" "" "" "" "" "" "epileptic encephalopathy" "" "0000242207" "00198" "00320161" "01807" "Unknown" "" "Microcephaly (HP:0000252); 4-layered lissencephaly (HP:0006818); Short stature (HP:0004322); Seizure (HP:0001250); Cleft palate (HP:0000175); Mongolian blue spot (HP:0011369)" "" "" "" "" "" "" "" "" "" "" "" "0000256949" "00139" "00361544" "00006" "Familial, autosomal recessive" "14y" "not syndromic; global developmental delay, progressive microcephaly, seizures" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000269655" "00198" "00374445" "00006" "Familial, autosomal recessive" "" "Microcephaly, global developmental delay, seizures and dysmorphism" "" "" "" "" "" "" "" "" "" "epilepsy, microcephaly" "" "0000296535" "05611" "00403855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000323878" "05421" "00433357" "00006" "Familial, autosomal recessive" "4y" "primary microcephaly; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA; birth OFC median; OFC (SD-7.5); 3m-developmental and epileptic encephalopathy, refractory, treatment LEV and VPA" "" "" "" "" "" "" "" "" "" "primary microcephaly" "" "0000330554" "06877" "00132291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 36 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133127" "00132291" "1" "00088" "00088" "2017-09-30 11:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000207930" "00206896" "1" "00006" "00006" "2018-11-16 22:08:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000207931" "00206897" "1" "00006" "00006" "2018-11-16 22:16:44" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000207932" "00206898" "1" "00006" "00006" "2018-11-16 22:20:27" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000207933" "00206899" "1" "00006" "00006" "2018-11-16 22:24:52" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000207934" "00206900" "1" "00006" "00006" "2018-11-16 22:30:41" "" "" "SBE;SEQ-NG" "DNA" "" "" "0000207935" "00206901" "1" "00006" "00006" "2018-11-16 22:35:04" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000207936" "00206902" "1" "00006" "00006" "2018-11-16 22:43:41" "00006" "2018-11-16 22:51:04" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "" "0000207937" "00206903" "1" "00006" "00006" "2018-11-17 08:51:50" "00006" "2018-11-17 08:54:14" "arraySNP;RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS" "0000207938" "00206904" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207939" "00206905" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207940" "00206906" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207941" "00206907" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207942" "00206908" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207943" "00206909" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207944" "00206910" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207945" "00206911" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207946" "00206912" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207947" "00206913" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000207948" "00206914" "1" "00006" "00006" "2018-11-17 09:15:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000226735" "00225668" "1" "00006" "00006" "2019-02-22 18:37:24" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000270684" "00269530" "1" "03512" "03512" "2019-11-29 11:15:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000271032" "00269879" "1" "01807" "01807" "2019-12-10 12:31:24" "" "" "SEQ" "DNA" "" "" "0000276817" "00275659" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276818" "00275660" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000276819" "00275661" "1" "00006" "00006" "2020-01-11 17:34:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000293349" "00292181" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293350" "00292182" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304271" "00303146" "1" "00006" "00006" "2020-06-07 12:54:10" "" "" "MIP;SEQ;SEQ-NG" "DNA" "" "65-gene panel" "0000321346" "00320161" "1" "01807" "01807" "2020-11-23 17:38:28" "" "" "SEQ" "DNA" "" "" "0000362772" "00361544" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000375639" "00374445" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000405093" "00403855" "1" "00006" "00006" "2022-02-24 16:43:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000434811" "00433357" "1" "00006" "00006" "2023-03-06 14:23:39" "" "" "SEQ-NG" "DNA" "" "" "0000472269" "00470602" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" "0000472270" "00470603" "1" "00006" "00006" "2025-12-04 10:36:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 29 "{{screeningid}}" "{{geneid}}" "0000133127" "PTPRQ" "0000207930" "PNKP" "0000207931" "PNKP" "0000207932" "PNKP" "0000207933" "PNKP" "0000207934" "PNKP" "0000207935" "PNKP" "0000207936" "PNKP" "0000207937" "PNKP" "0000207938" "PNKP" "0000207939" "PNKP" "0000207940" "PNKP" "0000207941" "PNKP" "0000207942" "PNKP" "0000207943" "PNKP" "0000207944" "PNKP" "0000207945" "PNKP" "0000207946" "PNKP" "0000207947" "PNKP" "0000207948" "PNKP" "0000226735" "PNKP" "0000276817" "PNKP" "0000276818" "PNKP" "0000276819" "PNKP" "0000304271" "PNKP" "0000362772" "PNKP" "0000375639" "PNKP" "0000472269" "PNKP" "0000472270" "PNKP" ## 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}}" "0000248124" "0" "30" "19" "50365718" "50365718" "subst" "0.00223553" "02325" "PNKP_000018" "g.50365718A>G" "" "" "" "PNKP(NM_007254.3):c.939T>C (p.F313=), PNKP(NM_007254.4):c.939T>C (p.F313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862461A>G" "" "likely benign" "" "0000250839" "0" "90" "19" "50365626" "50365626" "subst" "0.00106313" "02326" "PNKP_000016" "g.50365626A>G" "" "" "" "PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862369A>G" "" "pathogenic" "" "0000251167" "0" "10" "19" "50367486" "50367486" "subst" "0.00253828" "02326" "PNKP_000030" "g.50367486A>T" "" "" "" "PNKP(NM_007254.4):c.586T>A (p.Y196N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864229A>T" "" "benign" "" "0000254114" "0" "30" "19" "50365718" "50365718" "subst" "0.00223553" "01943" "PNKP_000018" "g.50365718A>G" "" "" "" "PNKP(NM_007254.3):c.939T>C (p.F313=), PNKP(NM_007254.4):c.939T>C (p.F313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862461A>G" "" "likely benign" "" "0000255394" "0" "90" "19" "50365626" "50365626" "subst" "0.00106313" "01943" "PNKP_000016" "g.50365626A>G" "" "" "" "PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862369A>G" "" "pathogenic" "" "0000297184" "0" "30" "19" "50365370" "50365370" "subst" "0.00672668" "02325" "PNKP_000013" "g.50365370G>A" "" "" "" "PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862113G>A" "" "likely benign" "" "0000297185" "0" "50" "19" "50369676" "50369676" "subst" "1.21818E-5" "02325" "PNKP_000040" "g.50369676G>C" "" "" "" "PNKP(NM_007254.4):c.178C>G (p.R60G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49866419G>C" "" "VUS" "" "0000297186" "0" "30" "19" "50369666" "50369666" "subst" "0.000653765" "02325" "PNKP_000039" "g.50369666G>A" "" "" "" "PNKP(NM_007254.3):c.188C>T (p.A63V), PNKP(NM_007254.4):c.188C>T (p.A63V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49866409G>A" "" "likely benign" "" "0000297187" "0" "30" "19" "50367293" "50367293" "subst" "0.000134297" "02325" "PNKP_000028" "g.50367293G>A" "" "" "" "PNKP(NM_007254.3):c.672C>T (p.R224=), PNKP(NM_007254.4):c.672C>T (p.R224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864036G>A" "" "likely benign" "" "0000297188" "0" "30" "19" "50365782" "50365782" "dup" "0" "02325" "PNKP_000020" "g.50365782dup" "" "" "" "PNKP(NM_007254.3):c.936+17dupC, PNKP(NM_007254.4):c.936+12delGinsGC, PNKP(NM_007254.4):c.936+17dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862525dup" "" "likely benign" "" "0000301073" "0" "30" "19" "50365536" "50365536" "subst" "0.00103796" "02326" "PNKP_000015" "g.50365536C>T" "" "" "" "PNKP(NM_007254.4):c.1032G>A (p.R344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862279C>T" "" "likely benign" "" "0000301074" "0" "10" "19" "50365370" "50365370" "subst" "0.00672668" "02326" "PNKP_000013" "g.50365370G>A" "" "" "" "PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862113G>A" "" "benign" "" "0000301075" "0" "10" "19" "50365148" "50365148" "del" "0.00638551" "02326" "PNKP_000011" "g.50365148del" "" "" "" "PNKP(NM_007254.3):c.1189-10delG, PNKP(NM_007254.4):c.1189-10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861891del" "" "benign" "" "0000301076" "0" "30" "19" "50364891" "50364891" "subst" "0.0006607" "02326" "PNKP_000005" "g.50364891G>T" "" "" "" "PNKP(NM_007254.3):c.1360C>A (p.L454M), PNKP(NM_007254.4):c.1360C>A (p.L454M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861634G>T" "" "likely benign" "" "0000301077" "0" "10" "19" "50369787" "50369787" "subst" "0.0146649" "02326" "PNKP_000041" "g.50369787T>C" "" "" "" "PNKP(NM_007254.4):c.152-85A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49866530T>C" "" "benign" "" "0000301078" "0" "30" "19" "50364549" "50364549" "subst" "0.000666596" "02326" "PNKP_000002" "g.50364549C>T" "" "" "" "PNKP(NM_007254.4):c.1522G>A (p.E508K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861292C>T" "" "likely benign" "" "0000301079" "0" "30" "19" "50369666" "50369666" "subst" "0.000653765" "02326" "PNKP_000039" "g.50369666G>A" "" "" "" "PNKP(NM_007254.3):c.188C>T (p.A63V), PNKP(NM_007254.4):c.188C>T (p.A63V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49866409G>A" "" "likely benign" "" "0000301080" "0" "10" "19" "50367687" "50367687" "subst" "0.000126634" "02326" "PNKP_000037" "g.50367687G>A" "" "" "" "PNKP(NM_007254.4):c.499-27C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864430G>A" "" "benign" "" "0000301081" "0" "30" "19" "50367621" "50367621" "subst" "0.000840712" "02326" "PNKP_000034" "g.50367621G>T" "" "" "" "PNKP(NM_007254.3):c.538C>A (p.R180S), PNKP(NM_007254.4):c.538C>A (p.R180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864364G>T" "" "likely benign" "" "0000301082" "0" "30" "19" "50367595" "50367595" "subst" "0.000154313" "02326" "PNKP_000033" "g.50367595G>A" "" "" "" "PNKP(NM_007254.4):c.564C>T (p.G188=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864338G>A" "" "likely benign" "" "0000301083" "0" "50" "19" "50367511" "50367511" "subst" "4.8746E-5" "02326" "PNKP_000032" "g.50367511C>T" "" "" "" "PNKP(NM_007254.4):c.579-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864254C>T" "" "VUS" "" "0000301084" "0" "30" "19" "50367493" "50367493" "subst" "0.00436584" "02326" "PNKP_000031" "g.50367493C>T" "" "" "" "PNKP(NM_007254.3):c.579G>A (p.R193=), PNKP(NM_007254.4):c.579G>A (p.(Arg193=), p.R193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864236C>T" "" "likely benign" "" "0000301085" "0" "10" "19" "50370404" "50370404" "subst" "0.0069181" "02326" "PNKP_000043" "g.50370404G>A" "" "" "" "PNKP(NM_007254.3):c.58C>T (p.P20S), PNKP(NM_007254.4):c.58C>T (p.P20S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49867147G>A" "" "benign" "" "0000301086" "0" "30" "19" "50367429" "50367429" "subst" "0.00465254" "02326" "PNKP_000029" "g.50367429C>T" "" "" "" "PNKP(NM_007254.4):c.636+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864172C>T" "" "likely benign" "" "0000301087" "0" "30" "19" "50366979" "50366979" "subst" "0.00283091" "02326" "PNKP_000025" "g.50366979C>T" "" "" "" "PNKP(NM_007254.3):c.783G>A (p.P261=), PNKP(NM_007254.4):c.783G>A (p.P261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49863722C>T" "" "likely benign" "" "0000301088" "0" "90" "19" "50365689" "50365689" "subst" "0" "02326" "PNKP_000017" "g.50365689G>A" "" "" "" "PNKP(NM_007254.4):c.968C>T (p.T323M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862432G>A" "" "pathogenic" "" "0000306002" "0" "30" "19" "50365435" "50365435" "subst" "5.69917E-5" "01943" "PNKP_000014" "g.50365435C>T" "" "" "" "PNKP(NM_007254.3):c.1126+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862178C>T" "" "likely benign" "" "0000306003" "0" "10" "19" "50365370" "50365370" "subst" "0.00672668" "01943" "PNKP_000013" "g.50365370G>A" "" "" "" "PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862113G>A" "" "benign" "" "0000306004" "0" "30" "19" "50365294" "50365294" "del" "0" "01943" "PNKP_000012" "g.50365294del" "" "" "" "PNKP(NM_007254.3):c.1188+8delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862037del" "" "likely benign" "" "0000306005" "0" "10" "19" "50365148" "50365148" "del" "0.00638551" "01943" "PNKP_000011" "g.50365148del" "" "" "" "PNKP(NM_007254.3):c.1189-10delG, PNKP(NM_007254.4):c.1189-10delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861891del" "" "benign" "" "0000306007" "0" "50" "19" "50365041" "50365041" "subst" "0" "01943" "PNKP_000007" "g.50365041G>A" "" "" "" "PNKP(NM_007254.3):c.1286C>T (p.A429V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861784G>A" "" "VUS" "" "0000306008" "0" "90" "19" "50364953" "50364953" "subst" "0" "01943" "PNKP_000006" "g.50364953C>A" "" "" "" "PNKP(NM_007254.3):c.1299-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861696C>A" "" "pathogenic" "" "0000306009" "0" "50" "19" "50364574" "50364574" "subst" "0.000893626" "01943" "PNKP_000003" "g.50364574C>T" "" "" "" "PNKP(NM_007254.3):c.1497G>A (p.L499=), PNKP(NM_007254.4):c.1497G>A (p.(Leu499=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861317C>T" "" "VUS" "" "0000306010" "0" "30" "19" "50369666" "50369666" "subst" "0.000653765" "01943" "PNKP_000039" "g.50369666G>A" "" "" "" "PNKP(NM_007254.3):c.188C>T (p.A63V), PNKP(NM_007254.4):c.188C>T (p.A63V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49866409G>A" "" "likely benign" "" "0000306011" "0" "10" "19" "50368361" "50368361" "subst" "0.382225" "01943" "PNKP_000038" "g.50368361T>A" "" "" "" "PNKP(NM_007254.3):c.498+23A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49865104T>A" "" "benign" "" "0000306012" "0" "30" "19" "50367658" "50367658" "subst" "0.000243962" "01943" "PNKP_000036" "g.50367658C>T" "" "" "" "PNKP(NM_007254.3):c.501G>A (p.V167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864401C>T" "" "likely benign" "" "0000306013" "0" "30" "19" "50367637" "50367637" "subst" "1.21864E-5" "01943" "PNKP_000035" "g.50367637C>T" "" "" "" "PNKP(NM_007254.3):c.522G>A (p.G174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864380C>T" "" "likely benign" "" "0000306014" "0" "10" "19" "50367621" "50367621" "subst" "0.000840712" "01943" "PNKP_000034" "g.50367621G>T" "" "" "" "PNKP(NM_007254.3):c.538C>A (p.R180S), PNKP(NM_007254.4):c.538C>A (p.R180S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864364G>T" "" "benign" "" "0000306015" "0" "10" "19" "50370404" "50370404" "subst" "0.0069181" "01943" "PNKP_000043" "g.50370404G>A" "" "" "" "PNKP(NM_007254.3):c.58C>T (p.P20S), PNKP(NM_007254.4):c.58C>T (p.P20S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49867147G>A" "" "benign" "" "0000306016" "0" "30" "19" "50367293" "50367293" "subst" "0.000134297" "01943" "PNKP_000028" "g.50367293G>A" "" "" "" "PNKP(NM_007254.3):c.672C>T (p.R224=), PNKP(NM_007254.4):c.672C>T (p.R224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864036G>A" "" "likely benign" "" "0000306017" "0" "30" "19" "50367287" "50367287" "subst" "0.00013013" "01943" "PNKP_000027" "g.50367287C>T" "" "" "" "PNKP(NM_007254.3):c.678G>A (p.K226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49864030C>T" "" "likely benign" "" "0000306018" "0" "30" "19" "50367028" "50367028" "del" "0" "01943" "PNKP_000026" "g.50367028del" "" "" "" "PNKP(NM_007254.3):c.745-9delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49863771del" "" "likely benign" "" "0000306019" "0" "30" "19" "50366979" "50366979" "subst" "0.00283091" "01943" "PNKP_000025" "g.50366979C>T" "" "" "" "PNKP(NM_007254.3):c.783G>A (p.P261=), PNKP(NM_007254.4):c.783G>A (p.P261=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49863722C>T" "" "likely benign" "" "0000306020" "0" "50" "19" "50366969" "50366969" "subst" "0" "01943" "PNKP_000024" "g.50366969T>C" "" "" "" "PNKP(NM_007254.3):c.793A>G (p.M265V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49863712T>C" "" "VUS" "" "0000306021" "0" "10" "19" "50366007" "50366007" "subst" "3.25127E-5" "01943" "PNKP_000023" "g.50366007G>A" "" "" "" "PNKP(NM_007254.3):c.817-12C>T, PNKP(NM_007254.4):c.817-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862750G>A" "" "benign" "" "0000306022" "0" "30" "19" "50365981" "50365981" "subst" "0.00127578" "01943" "PNKP_000022" "g.50365981C>T" "" "" "" "PNKP(NM_007254.3):c.831G>A (p.T277=), PNKP(NM_007254.4):c.831G>A (p.T277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862724C>T" "" "likely benign" "" "0000306023" "0" "50" "19" "50365848" "50365848" "subst" "2.88638E-5" "01943" "PNKP_000021" "g.50365848C>T" "" "" "" "PNKP(NM_007254.3):c.883G>A (p.A295T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49862591C>T" "" "VUS" "" "0000326735" "0" "50" "19" "50361232" "50361232" "subst" "0.000171606" "01804" "PTOV1_000001" "g.50361232C>A" "" "" "" "PTOV1(NM_017432.3):c.876C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49857975C>A" "" "VUS" "" "0000326736" "0" "50" "19" "50363282" "50363282" "subst" "1.21869E-5" "01804" "PTOV1_000002" "g.50363282A>G" "" "" "" "PTOV1(NM_017432.3):c.1081A>G (p.(Ile361Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49860025A>G" "" "VUS" "" "0000326737" "0" "50" "19" "50364510" "50364510" "subst" "4.07724E-6" "01804" "PNKP_000001" "g.50364510C>T" "" "" "" "PNKP(NM_007254.3):c.1561G>A (p.(Gly521Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861253C>T" "" "VUS" "" "0000326738" "0" "50" "19" "50364775" "50364775" "dup" "0" "01804" "PNKP_000004" "g.50364775dup" "" "" "" "PNKP(NM_007254.3):c.1387-5_1387-4insC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861518dup" "" "VUS" "" "0000326739" "0" "90" "19" "50365061" "50365077" "dup" "0" "01804" "PNKP_000009" "g.50365061_50365077dup" "" "" "" "PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.(Thr424fs)), PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.T424Gfs*49), PNKP(NM_007254...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic" "" "0000326740" "0" "50" "19" "50365063" "50365063" "subst" "5.26981E-6" "01804" "PNKP_000010" "g.50365063C>G" "" "" "" "PNKP(NM_007254.3):c.1264G>C (p.(Asp422His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861806C>G" "" "VUS" "" "0000343037" "0" "50" "19" "50364534" "50364534" "subst" "4.06828E-6" "02327" "PNKP_000044" "g.50364534G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861277G>A" "" "VUS" "" "0000349508" "0" "90" "19" "50365061" "50365077" "dup" "0" "02327" "PNKP_000045" "g.50365061_50365077dup" "" "" "" "PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.(Thr424fs)), PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.T424Gfs*49), PNKP(NM_007254...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic" "" "0000350756" "0" "70" "19" "50365122" "50365156" "del" "0" "02327" "PNKP_000046" "g.50365122_50365156del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49861865_49861899del" "" "likely pathogenic" "" "0000437644" "3" "90" "19" "50365681" "50365681" "subst" "0" "00006" "PNKP_000047" "g.50365681C>T" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0001}" "" "975G>A" "" "Germline" "yes" "" "0" "" "" "g.49862424C>T" "" "pathogenic (recessive)" "" "0000437645" "3" "90" "19" "50365681" "50365681" "subst" "0" "00006" "PNKP_000047" "g.50365681C>T" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0001}" "" "975G>A" "" "Germline" "yes" "" "0" "" "" "g.49862424C>T" "" "pathogenic (recessive)" "" "0000437646" "3" "90" "19" "50365681" "50365681" "subst" "0" "00006" "PNKP_000047" "g.50365681C>T" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0001}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862424C>T" "" "pathogenic (recessive)" "" "0000437647" "3" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0002}" "" "1250_1266dup" "" "Germline" "yes" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437648" "3" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0002}" "" "1250_1266dup" "" "Germline" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437649" "1" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0002}" "" "1250_1266dup" "" "Germline" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437650" "2" "90" "19" "50367633" "50367633" "subst" "0" "00006" "PNKP_000048" "g.50367633G>A" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0003}" "" "" "" "Germline" "" "" "0" "" "" "g.49864376G>A" "" "pathogenic (recessive)" "" "0000437651" "1" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0002}" "" "1250_1266dup" "" "Germline" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437652" "2" "90" "19" "50364811" "50364827" "del" "0" "00006" "PNKP_000049" "g.50364811_50364827del" "" "{PMID:Shen 2010:20118933}, {OMIM605610:0004}" "" "" "" "Germline" "" "rs752902474" "0" "" "" "g.49861554_49861570del" "" "pathogenic (recessive)" "" "0000437653" "3" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Poulton 2013:23224214}" "" "1250_1266 dup" "reduced mRNA expression" "Germline" "yes" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437654" "11" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437655" "21" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Bras 2015:25728773}" "" "1253_1269dupGGGTCGCCATCGACAAC" "" "Germline" "yes" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437656" "11" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437657" "21" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000045" "g.50365061_50365077dup" "" "{PMID:Bras 2015:25728773}" "" "1253_1269dupGGGTCGCCATCGACAAC" "" "Germline" "yes" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000437658" "3" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437659" "11" "90" "19" "50365106" "50365108" "del" "0" "00006" "PNKP_000051" "g.50365106_50365108del" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49861849_49861851del" "" "pathogenic (recessive)" "" "0000437660" "21" "90" "19" "50364522" "50364523" "ins" "0" "00006" "PNKP_000052" "g.50364522_50364523insCAGTACAG" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49861265_49861266insCAGTACAG" "" "pathogenic (recessive)" "" "0000437661" "21" "90" "19" "50365106" "50365108" "del" "0" "00006" "PNKP_000051" "g.50365106_50365108del" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49861849_49861851del" "" "pathogenic (recessive)" "" "0000437662" "11" "90" "19" "50364922" "50364936" "del" "0" "00006" "PNKP_000053" "g.50364922_50364936delinsACCC" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49861665_49861679delinsACCC" "" "pathogenic (recessive)" "" "0000437663" "3" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437664" "1" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437665" "2" "90" "19" "50364928" "50364929" "ins" "0" "00006" "PNKP_000054" "g.50364928_50364929insCGGCT" "" "{PMID:Bras 2015:25728773}" "" "?variant not c.1317_1321dup?" "" "Germline" "" "" "0" "" "" "g.49861671_49861672insCGGCT" "" "pathogenic (recessive)" "" "0000437666" "3" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437667" "3" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437668" "3" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000437669" "3" "90" "19" "50365445" "50365445" "subst" "0" "00006" "PNKP_000050" "g.50365445C>A" "" "{PMID:Bras 2015:25728773}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49862188C>A" "" "pathogenic (recessive)" "" "0000459759" "3" "90" "19" "50365076" "50365077" "ins" "0" "00006" "PNKP_000055" "g.50365076_50365077insGTCGATGGCGACCCGTT" "" "{PMID:Alazami 2015:25558065}, {DOI:Alazami 2015:10.1016/j.celrep.2014.12.015}" "" "1250_1251insAACGGGTCGCCATCGAC" "" "Germline" "yes" "" "0" "" "" "g.49861819_49861820insGTCGATGGCGACCCGTT" "" "pathogenic (recessive)" "" "0000568049" "0" "50" "19" "50364721" "50364721" "subst" "0.00507991" "01943" "PNKP_000057" "g.50364721A>C" "" "" "" "PNKP(NM_007254.3):c.1433T>G (p.V478G), PNKP(NM_007254.4):c.1433T>G (p.V478G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861464A>C" "" "VUS" "" "0000568050" "0" "30" "19" "50364721" "50364721" "subst" "0.00507991" "02326" "PNKP_000057" "g.50364721A>C" "" "" "" "PNKP(NM_007254.3):c.1433T>G (p.V478G), PNKP(NM_007254.4):c.1433T>G (p.V478G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861464A>C" "" "likely benign" "" "0000568052" "0" "90" "19" "50364757" "50364761" "dup" "0" "02325" "PNKP_000059" "g.50364757_50364761dup" "" "" "" "PNKP(NM_007254.4):c.1395_1399dupGATGA (p.T467Rfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861500_49861504dup" "" "pathogenic" "" "0000568053" "0" "30" "19" "50364929" "50364929" "subst" "0.00161416" "01943" "PNKP_000060" "g.50364929G>C" "" "" "" "PNKP(NM_007254.3):c.1322C>G (p.A441G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861672G>C" "" "likely benign" "" "0000568054" "0" "30" "19" "50365046" "50365046" "subst" "0.000135632" "02326" "PNKP_000061" "g.50365046G>A" "" "" "" "PNKP(NM_007254.4):c.1281C>T (p.D427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861789G>A" "" "likely benign" "" "0000568056" "0" "90" "19" "50365061" "50365077" "dup" "0" "01943" "PNKP_000009" "g.50365061_50365077dup" "" "" "" "PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.(Thr424fs)), PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.T424Gfs*49), PNKP(NM_007254...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861804_49861820dup" "" "pathogenic" "" "0000568057" "0" "90" "19" "50365061" "50365077" "dup" "0" "02325" "PNKP_000009" "g.50365061_50365077dup" "" "" "" "PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.(Thr424fs)), PNKP(NM_007254.3):c.1253_1269dupGGGTCGCCATCGACAAC (p.T424Gfs*49), PNKP(NM_007254...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49861804_49861820dup" "" "pathogenic" "" "0000568058" "0" "50" "19" "50365319" "50365319" "subst" "0" "01943" "PNKP_000063" "g.50365319T>C" "" "" "" "PNKP(NM_007254.3):c.1170A>G (p.G390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862062T>C" "" "VUS" "" "0000568059" "0" "30" "19" "50365370" "50365370" "subst" "0.00672668" "01804" "PNKP_000013" "g.50365370G>A" "" "" "" "PNKP(NM_007254.3):c.1127-8C>T (p.(=)), PNKP(NM_007254.4):c.1127-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862113G>A" "" "likely benign" "" "0000568060" "0" "30" "19" "50365503" "50365503" "subst" "1.70632E-5" "01943" "PNKP_000064" "g.50365503G>C" "" "" "" "PNKP(NM_007254.3):c.1065C>G (p.P355=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862246G>C" "" "likely benign" "" "0000568061" "0" "90" "19" "50365626" "50365626" "subst" "0.00106313" "02325" "PNKP_000016" "g.50365626A>G" "" "" "" "PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862369A>G" "" "pathogenic" "" "0000568062" "0" "30" "19" "50365663" "50365663" "subst" "0" "01943" "PNKP_000065" "g.50365663G>A" "" "" "" "PNKP(NM_007254.3):c.994C>T (p.P332S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862406G>A" "" "likely benign" "" "0000568063" "0" "10" "19" "50365782" "50365782" "dup" "0" "01943" "PNKP_000020" "g.50365782dup" "" "" "" "PNKP(NM_007254.3):c.936+17dupC, PNKP(NM_007254.4):c.936+12delGinsGC, PNKP(NM_007254.4):c.936+17dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862525dup" "" "benign" "" "0000568064" "0" "70" "19" "50365811" "50365813" "del" "0" "02327" "PNKP_000066" "g.50365811_50365813del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862554_49862556del" "" "likely pathogenic" "" "0000568065" "0" "30" "19" "50365830" "50365830" "subst" "0.000715986" "02326" "PNKP_000067" "g.50365830G>A" "" "" "" "PNKP(NM_007254.4):c.901C>T (p.R301W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862573G>A" "" "likely benign" "" "0000568066" "0" "50" "19" "50365830" "50365830" "subst" "0.000715986" "02329" "PNKP_000067" "g.50365830G>A" "" "" "" "PNKP(NM_007254.4):c.901C>T (p.R301W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862573G>A" "" "VUS" "" "0000568067" "0" "30" "19" "50365850" "50365850" "subst" "8.22795E-6" "01804" "PNKP_000068" "g.50365850G>A" "" "" "" "PNKP(NM_007254.3):c.881C>T (p.(Pro294Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862593G>A" "" "likely benign" "" "0000568068" "0" "30" "19" "50367293" "50367293" "subst" "0.000134297" "02326" "PNKP_000028" "g.50367293G>A" "" "" "" "PNKP(NM_007254.3):c.672C>T (p.R224=), PNKP(NM_007254.4):c.672C>T (p.R224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49864036G>A" "" "likely benign" "" "0000568070" "0" "10" "19" "50367493" "50367493" "subst" "0.00436584" "01943" "PNKP_000031" "g.50367493C>T" "" "" "" "PNKP(NM_007254.3):c.579G>A (p.R193=), PNKP(NM_007254.4):c.579G>A (p.(Arg193=), p.R193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49864236C>T" "" "benign" "" "0000568071" "0" "30" "19" "50367493" "50367493" "subst" "0.00436584" "01804" "PNKP_000031" "g.50367493C>T" "" "" "" "PNKP(NM_007254.3):c.579G>A (p.R193=), PNKP(NM_007254.4):c.579G>A (p.(Arg193=), p.R193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49864236C>T" "" "likely benign" "" "0000568072" "0" "30" "19" "50368432" "50368432" "subst" "4.06448E-6" "01943" "PNKP_000070" "g.50368432C>T" "" "" "" "PNKP(NM_007254.3):c.450G>A (p.L150=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49865175C>T" "" "likely benign" "" "0000568073" "0" "50" "19" "50368466" "50368466" "subst" "0.00194951" "01943" "PNKP_000071" "g.50368466C>T" "" "" "" "PNKP(NM_007254.3):c.416G>A (p.R139H), PNKP(NM_007254.4):c.416G>A (p.R139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49865209C>T" "" "VUS" "" "0000568074" "0" "30" "19" "50368466" "50368466" "subst" "0.00194951" "02326" "PNKP_000071" "g.50368466C>T" "" "" "" "PNKP(NM_007254.3):c.416G>A (p.R139H), PNKP(NM_007254.4):c.416G>A (p.R139H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49865209C>T" "" "likely benign" "" "0000568075" "0" "30" "19" "50370332" "50370332" "subst" "0" "02326" "PNKP_000072" "g.50370332G>T" "" "" "" "PNKP(NM_007254.4):c.130C>A (p.R44=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49867075G>T" "" "likely benign" "" "0000568077" "0" "30" "19" "50370482" "50370482" "subst" "8.14952E-5" "01804" "PNKP_000073" "g.50370482G>A" "" "" "" "PNKP(NM_007254.3):c.-13-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49867225G>A" "" "likely benign" "" "0000604470" "21" "70" "19" "50367645" "50367645" "subst" "0" "03512" "PNKP_000074" "g.50367645G>C" "" "{PMID:Minardi 2020:32725632}" "" "" "" "Germline" "" "" "0" "" "" "g.49864388G>C" "" "likely pathogenic (recessive)" "" "0000604471" "11" "90" "19" "50365057" "50365057" "delins" "0" "03512" "PNKP_000075" "g.50365057delinsGTTGTCGATGGCGACCC" "" "{PMID:Minardi 2020:32725632}" "" "1270delAinsGGGTCGCCATCGACAAC" "" "Germline" "" "" "0" "" "" "g.49861800delinsGTTGTCGATGGCGACCC" "" "pathogenic (recessive)" "" "0000617810" "0" "30" "19" "50365931" "50365931" "subst" "0" "02326" "PNKP_000076" "g.50365931G>A" "" "" "" "PNKP(NM_007254.4):c.865+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862674G>A" "" "likely benign" "" "0000617812" "0" "30" "19" "50367448" "50367448" "subst" "0.000320914" "02326" "PNKP_000078" "g.50367448G>A" "" "" "" "PNKP(NM_007254.4):c.624C>T (p.A208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49864191G>A" "" "likely benign" "" "0000617813" "0" "30" "19" "50368516" "50368516" "subst" "3.65503E-5" "01943" "PNKP_000079" "g.50368516G>A" "" "" "" "PNKP(NM_007254.3):c.366C>T (p.T122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49865259G>A" "" "likely benign" "" "0000617814" "0" "30" "19" "50370482" "50370482" "subst" "8.14952E-5" "01943" "PNKP_000073" "g.50370482G>A" "" "" "" "PNKP(NM_007254.3):c.-13-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49867225G>A" "" "likely benign" "" "0000624055" "0" "30" "19" "50365939" "50365939" "subst" "0" "01943" "PNKP_000077" "g.50365939G>A" "" "" "" "PNKP(NM_007254.3):c.865+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862682G>A" "" "likely benign" "" "0000624879" "0" "70" "19" "50365360" "50365360" "subst" "8.12381E-6" "01807" "PNKP_000080" "g.50365360C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.49862103C>T" "" "likely pathogenic" "" "0000624880" "0" "70" "19" "50365681" "50365681" "subst" "0" "01807" "PNKP_000047" "g.50365681C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.49862424C>T" "" "likely pathogenic" "" "0000630956" "3" "90" "19" "50369654" "50369654" "dup" "0" "00006" "PNKP_000081" "g.50369654dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "198+2_+3insT" "" "Germline" "" "" "0" "" "" "g.49866397dup" "" "pathogenic (recessive)" "" "0000630957" "3" "90" "19" "50369654" "50369654" "dup" "0" "00006" "PNKP_000081" "g.50369654dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "198+2_+3insT" "" "Germline" "" "" "0" "" "" "g.49866397dup" "" "pathogenic (recessive)" "" "0000630958" "3" "90" "19" "50369654" "50369654" "dup" "0" "00006" "PNKP_000081" "g.50369654dup" "" "{PMID:Santos-Cortez 2018:30167849}" "" "198+2_+3insT" "" "Germline" "" "" "0" "" "" "g.49866397dup" "" "pathogenic (recessive)" "" "0000650038" "1" "30" "19" "50364721" "50364721" "subst" "0.00507991" "03575" "PNKP_000057" "g.50364721A>C" "19/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "19 heterozygous, no homozygous; {DB:CLININrs3739206}" "Germline" "" "rs3739206" "0" "" "" "g.49861464A>C" "" "likely benign" "" "0000650039" "1" "50" "19" "50365626" "50365626" "subst" "0.00106313" "03575" "PNKP_000016" "g.50365626A>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs199919568}" "Germline" "" "rs199919568" "0" "" "" "g.49862369A>G" "" "VUS" "" "0000658639" "0" "50" "19" "50365474" "50365474" "subst" "2.46763E-5" "02325" "PNKP_000082" "g.50365474G>A" "" "" "" "PNKP(NM_007254.4):c.1094C>T (p.P365L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49862217G>A" "" "VUS" "" "0000667699" "3" "90" "19" "50370404" "50370404" "subst" "0.0069181" "00006" "PNKP_000043" "g.50370404G>A" "" "{PMID:Carvill 2013:23708187}" "" "c.58G>A" "" "Germline" "" "" "0" "" "" "g.49867147G>A" "" "pathogenic (recessive)" "" "0000681484" "0" "30" "19" "50364891" "50364891" "subst" "0.0006607" "01943" "PNKP_000005" "g.50364891G>T" "" "" "" "PNKP(NM_007254.3):c.1360C>A (p.L454M), PNKP(NM_007254.4):c.1360C>A (p.L454M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681485" "0" "30" "19" "50365981" "50365981" "subst" "0.00127578" "02326" "PNKP_000022" "g.50365981C>T" "" "" "" "PNKP(NM_007254.3):c.831G>A (p.T277=), PNKP(NM_007254.4):c.831G>A (p.T277=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681486" "0" "30" "19" "50366007" "50366007" "subst" "3.25127E-5" "02326" "PNKP_000023" "g.50366007G>A" "" "" "" "PNKP(NM_007254.3):c.817-12C>T, PNKP(NM_007254.4):c.817-12C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692865" "0" "70" "19" "50365319" "50365319" "subst" "0" "02327" "PNKP_000063" "g.50365319T>C" "" "" "" "PNKP(NM_007254.3):c.1170A>G (p.G390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692866" "0" "30" "19" "50365433" "50365433" "subst" "0.000964465" "01943" "PNKP_000083" "g.50365433G>A" "" "" "" "PNKP(NM_007254.3):c.1126+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692867" "0" "70" "19" "50365626" "50365626" "subst" "0.00106313" "02327" "PNKP_000016" "g.50365626A>G" "" "" "" "PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000692868" "0" "30" "19" "50368452" "50368452" "subst" "0.000162475" "01943" "PNKP_000084" "g.50368452T>C" "" "" "" "PNKP(NM_007254.3):c.430A>G (p.N144D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692869" "0" "50" "19" "50370353" "50370353" "subst" "0" "01943" "PNKP_000085" "g.50370353G>C" "" "" "" "PNKP(NM_007254.3):c.109C>G (p.P37A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000704175" "3" "70" "19" "50370404" "50370404" "dup" "0" "01807" "PNKP_000086" "g.50370404dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.49867147dup" "" "likely pathogenic" "" "0000727486" "0" "30" "19" "50364580" "50364580" "subst" "0.000637703" "01943" "PNKP_000087" "g.50364580G>A" "" "" "" "PNKP(NM_007254.3):c.1491C>T (p.A497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727487" "0" "70" "19" "50364752" "50364753" "del" "0" "02329" "PNKP_000058" "g.50364752_50364753del" "" "" "" "PNKP(NM_007254.4):c.1401_1402del (p.(Asp468Leufs*25)), PNKP(NM_007254.4):c.1401_1402delGG (p.D468Lfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727488" "0" "30" "19" "50364928" "50364928" "subst" "7.0372E-6" "02325" "PNKP_000088" "g.50364928C>A" "" "" "" "PNKP(NM_007254.4):c.1323G>T (p.A441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000763146" "3" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000009" "g.50365061_50365077dup" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PM2, PP1" "Germline" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic" "ACMG" "0000786990" "1" "50" "19" "50370427" "50370427" "subst" "0" "00006" "PNKP_000090" "g.50370427A>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.49867170A>G" "" "VUS" "" "0000787517" "2" "70" "19" "50365794" "50365794" "subst" "0" "00000" "PNKP_000089" "g.50365794C>A" "" "0" "" "" "" "Germline" "" "" "0" "" "" "g.49862537C>A" "" "likely pathogenic" "" "0000808986" "0" "30" "19" "50364732" "50364732" "subst" "8.1213E-6" "01943" "PNKP_000091" "g.50364732C>T" "" "" "" "PNKP(NM_007254.3):c.1422G>A (p.V474=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808987" "0" "30" "19" "50365971" "50365971" "subst" "0" "01943" "PNKP_000092" "g.50365971T>C" "" "" "" "PNKP(NM_007254.3):c.841A>G (p.I281V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808988" "0" "30" "19" "50368450" "50368450" "subst" "4.06207E-6" "01943" "AKT1S1_000002" "g.50368450G>T" "" "" "" "PNKP(NM_007254.3):c.432C>A (p.N144K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000841154" "1" "90" "19" "50365681" "50365681" "subst" "0" "00006" "PNKP_000047" "g.50365681C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.49862424C>T" "" "pathogenic (recessive)" "" "0000841188" "2" "90" "19" "50365360" "50365360" "subst" "8.12381E-6" "00006" "PNKP_000080" "g.50365360C>T" "" "{PMID:Froukh 2020:32056211}" "" "" "" "Germline" "" "" "0" "" "" "g.49862103C>T" "" "pathogenic (recessive)" "" "0000866232" "0" "50" "19" "50367593" "50367593" "subst" "8.12176E-6" "01943" "PNKP_000093" "g.50367593G>C" "" "" "" "PNKP(NM_007254.3):c.566C>G (p.P189R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000920688" "3" "90" "19" "50365061" "50365077" "dup" "0" "00006" "PNKP_000009" "g.50365061_50365077dup" "" "{PMID:Duerinckx 2021: 34402213}" "" "" "" "Germline" "" "" "0" "" "" "g.49861804_49861820dup" "" "pathogenic (recessive)" "" "0000943947" "0" "30" "19" "50370404" "50370404" "subst" "0.0069181" "00006" "PNKP_000043" "g.50370404G>A" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs3739168" "0" "" "" "g.49867147G>A" "" "likely benign" "" "0000943948" "0" "30" "19" "50365370" "50365370" "subst" "0.00672668" "00006" "PNKP_000013" "g.50365370G>A" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "" "rs3739203" "0" "" "" "g.49862113G>A" "" "likely benign" "" "0000983601" "0" "30" "19" "50364574" "50364574" "subst" "0.000893626" "01804" "PNKP_000003" "g.50364574C>T" "" "" "" "PNKP(NM_007254.3):c.1497G>A (p.L499=), PNKP(NM_007254.4):c.1497G>A (p.(Leu499=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983602" "0" "50" "19" "50364748" "50364750" "del" "0" "01804" "PNKP_000094" "g.50364748_50364750del" "" "" "" "PNKP(NM_007254.4):c.1407_1409del (p.(Ser470del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983603" "0" "50" "19" "50364752" "50364753" "del" "0" "01804" "PNKP_000058" "g.50364752_50364753del" "" "" "" "PNKP(NM_007254.4):c.1401_1402del (p.(Asp468Leufs*25)), PNKP(NM_007254.4):c.1401_1402delGG (p.D468Lfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983604" "0" "50" "19" "50364771" "50364772" "del" "0" "01804" "PNKP_000095" "g.50364771_50364772del" "" "" "" "PNKP(NM_007254.4):c.1387-3_1387-2del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983605" "0" "30" "19" "50364806" "50364806" "del" "0" "01804" "PNKP_000096" "g.50364806del" "" "" "" "PNKP(NM_007254.4):c.1387-39del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983606" "0" "30" "19" "50365408" "50365408" "subst" "0.00112187" "01804" "PNKP_000097" "g.50365408G>A" "" "" "" "PNKP(NM_007254.4):c.1126+34C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983607" "0" "70" "19" "50365626" "50365626" "subst" "0.00106313" "01804" "PNKP_000016" "g.50365626A>G" "" "" "" "PNKP(NM_007254.3):c.1029+2T>C, PNKP(NM_007254.4):c.1029+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001005019" "0" "30" "19" "50364694" "50364694" "subst" "0.00010558" "02325" "PNKP_000098" "g.50364694C>T" "" "" "" "PNKP(NM_007254.4):c.1448+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001005020" "0" "50" "19" "50364879" "50364879" "subst" "0" "01804" "PNKP_000099" "g.50364879G>A" "" "" "" "PNKP(NM_007254.3):c.1372C>T (p.(Arg458Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001005021" "0" "30" "19" "50370494" "50370494" "subst" "6.92898E-5" "02326" "PNKP_000100" "g.50370494G>A" "" "" "" "PNKP(NM_007254.4):c.-13-20C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043117" "0" "30" "19" "50367023" "50367023" "subst" "0" "01804" "PNKP_000101" "g.50367023G>A" "" "" "" "PNKP(NM_007254.4):c.745-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056754" "0" "50" "19" "50365437" "50365437" "subst" "0" "01804" "PNKP_000102" "g.50365437C>G" "" "" "" "PNKP(NM_007254.4):c.1126+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001060681" "0" "70" "19" "50367577" "50367577" "subst" "0" "00006" "PNKP_000103" "g.50367577T>C" "" "{PMID:Wai 2020:32123317}" "" "" "alternative intronic 5´splice site activated" "Germline" "" "" "0" "" "" "g.49864320T>C" "" "VUS" "" "0001060682" "0" "70" "19" "50365626" "50365626" "subst" "0.00106313" "00006" "PNKP_000016" "g.50365626A>G" "" "{PMID:Wai 2020:32123317}" "" "" "upstream exon skipped" "Germline" "" "rs199919568" "0" "" "" "g.49862369A>G" "" "likely pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PNKP ## 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}}" "0000248124" "00016427" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(Phe313=)" "" "0000250839" "00016427" "90" "1029" "2" "1029" "2" "c.1029+2T>C" "r.spl?" "p.?" "" "0000251167" "00016427" "10" "586" "0" "586" "0" "c.586T>A" "r.(?)" "p.(Tyr196Asn)" "" "0000254114" "00016427" "30" "939" "0" "939" "0" "c.939T>C" "r.(?)" "p.(Phe313=)" "" "0000255394" "00016427" "90" "1029" "2" "1029" "2" "c.1029+2T>C" "r.spl?" "p.?" "" "0000297184" "00016427" "30" "1127" "-8" "1127" "-8" "c.1127-8C>T" "r.(=)" "p.(=)" "" "0000297185" "00016427" "50" "178" "0" "178" "0" "c.178C>G" "r.(?)" "p.(Arg60Gly)" "" "0000297186" "00016427" "30" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000297187" "00016427" "30" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Arg224=)" "" "0000297188" "00016427" "30" "936" "17" "936" "17" "c.936+17dup" "r.(=)" "p.(=)" "" "0000301073" "00016427" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Arg344=)" "" "0000301074" "00016427" "10" "1127" "-8" "1127" "-8" "c.1127-8C>T" "r.(=)" "p.(=)" "" "0000301075" "00016427" "10" "1189" "-10" "1189" "-10" "c.1189-10del" "r.(=)" "p.(=)" "" "0000301076" "00016427" "30" "1360" "0" "1360" "0" "c.1360C>A" "r.(?)" "p.(Leu454Met)" "" "0000301077" "00016427" "10" "152" "-85" "152" "-85" "c.152-85A>G" "r.(=)" "p.(=)" "" "0000301078" "00016427" "30" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Glu508Lys)" "" "0000301079" "00016427" "30" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000301080" "00016427" "10" "499" "-27" "499" "-27" "c.499-27C>T" "r.(=)" "p.(=)" "" "0000301081" "00016427" "30" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(Arg180Ser)" "" "0000301082" "00016427" "30" "564" "0" "564" "0" "c.564C>T" "r.(?)" "p.(Gly188=)" "" "0000301083" "00016427" "50" "579" "-18" "579" "-18" "c.579-18G>A" "r.(=)" "p.(=)" "" "0000301084" "00016427" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Arg193=)" "" "0000301085" "00016427" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "" "0000301086" "00016427" "30" "636" "7" "636" "7" "c.636+7G>A" "r.(=)" "p.(=)" "" "0000301087" "00016427" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000301088" "00016427" "90" "968" "0" "968" "0" "c.968C>T" "r.(?)" "p.(Thr323Met)" "" "0000306002" "00016427" "30" "1126" "7" "1126" "7" "c.1126+7G>A" "r.(=)" "p.(=)" "" "0000306003" "00016427" "10" "1127" "-8" "1127" "-8" "c.1127-8C>T" "r.(=)" "p.(=)" "" "0000306004" "00016427" "30" "1188" "8" "1188" "8" "c.1188+8del" "r.(=)" "p.(=)" "" "0000306005" "00016427" "10" "1189" "-10" "1189" "-10" "c.1189-10del" "r.(=)" "p.(=)" "" "0000306007" "00016427" "50" "1286" "0" "1286" "0" "c.1286C>T" "r.(?)" "p.(Ala429Val)" "" "0000306008" "00016427" "90" "1299" "-1" "1299" "-1" "c.1299-1G>T" "r.spl?" "p.?" "" "0000306009" "00016427" "50" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Leu499=)" "" "0000306010" "00016427" "30" "188" "0" "188" "0" "c.188C>T" "r.(?)" "p.(Ala63Val)" "" "0000306011" "00016427" "10" "498" "23" "498" "23" "c.498+23A>T" "r.(=)" "p.(=)" "" "0000306012" "00016427" "30" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Val167=)" "" "0000306013" "00016427" "30" "522" "0" "522" "0" "c.522G>A" "r.(?)" "p.(Gly174=)" "" "0000306014" "00016427" "10" "538" "0" "538" "0" "c.538C>A" "r.(?)" "p.(Arg180Ser)" "" "0000306015" "00016427" "10" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "" "0000306016" "00016427" "30" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Arg224=)" "" "0000306017" "00016427" "30" "678" "0" "678" "0" "c.678G>A" "r.(?)" "p.(Lys226=)" "" "0000306018" "00016427" "30" "745" "-9" "745" "-9" "c.745-9del" "r.(=)" "p.(=)" "" "0000306019" "00016427" "30" "783" "0" "783" "0" "c.783G>A" "r.(?)" "p.(Pro261=)" "" "0000306020" "00016427" "50" "793" "0" "793" "0" "c.793A>G" "r.(?)" "p.(Met265Val)" "" "0000306021" "00016427" "10" "817" "-12" "817" "-12" "c.817-12C>T" "r.(=)" "p.(=)" "" "0000306022" "00016427" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Thr277=)" "" "0000306023" "00016427" "50" "883" "0" "883" "0" "c.883G>A" "r.(?)" "p.(Ala295Thr)" "" "0000326735" "00016427" "50" "4839" "0" "4839" "0" "c.*3273G>T" "r.(=)" "p.(=)" "" "0000326736" "00016427" "50" "2789" "0" "2789" "0" "c.*1223T>C" "r.(=)" "p.(=)" "" "0000326737" "00016427" "50" "1561" "0" "1561" "0" "c.1561G>A" "r.(?)" "p.(Gly521Ser)" "" "0000326738" "00016427" "50" "1387" "-5" "1387" "-5" "c.1387-5dup" "r.spl?" "p.?" "" "0000326739" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424GlyfsTer49)" "" "0000326740" "00016427" "50" "1264" "0" "1264" "0" "c.1264G>C" "r.(?)" "p.(Asp422His)" "" "0000343037" "00016427" "50" "1537" "0" "1537" "0" "c.1537C>T" "r.(?)" "p.(Arg513Trp)" "" "0000349508" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424GlyfsTer49)" "" "0000350756" "00016427" "70" "1189" "-17" "1206" "0" "c.1189-17_1206del" "r.spl?" "p.?" "" "0000437644" "00016427" "90" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Glu326Lys)" "" "0000437645" "00016427" "90" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Glu326Lys)" "" "0000437646" "00016427" "90" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Glu326Lys)" "" "0000437647" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000437648" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000437649" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000437650" "00016427" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Leu176Phe)" "" "0000437651" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000437652" "00016427" "90" "1386" "49" "1387" "-33" "c.1386+49_1387-33del" "r.1387_1448del" "p.?" "15i" "0000437653" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.1253_1269dup" "p.Thr424Glyfs*49" "" "0000437654" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437655" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000437656" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437657" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000437658" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437659" "00016427" "90" "1221" "0" "1223" "0" "c.1221_1223del" "r.(?)" "p.(Thr408del)" "" "0000437660" "00016427" "90" "1549" "0" "1550" "0" "c.1549_1550insTGTACTGC" "r.(?)" "p.(Gln517Leufs*?)" "" "0000437661" "00016427" "90" "1221" "0" "1223" "0" "c.1221_1223del" "r.(?)" "p.(Thr408del)" "" "0000437662" "00016427" "90" "1315" "0" "1329" "0" "c.1315_1329delinsGGGT" "r.(?)" "p.(Arg439Glyfs*51)" "" "0000437663" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437664" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437665" "00016427" "90" "1322" "0" "1323" "0" "c.1322_1323insAGCCG" "r.(?)" "p.(Gly442Alafs*27)" "" "0000437666" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437667" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437668" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000437669" "00016427" "90" "1123" "0" "1123" "0" "c.1123G>T" "r.(?)" "p.(Gly375Trp)" "" "0000459759" "00016427" "90" "1251" "0" "1252" "0" "c.1251_1252insACGGGTCGCCATCGACA" "r.(?)" "p.(Arg418Thrfs*55)" "" "0000568049" "00016427" "50" "1433" "0" "1433" "0" "c.1433T>G" "r.(?)" "p.(Val478Gly)" "" "0000568050" "00016427" "30" "1433" "0" "1433" "0" "c.1433T>G" "r.(?)" "p.(Val478Gly)" "" "0000568052" "00016427" "90" "1395" "0" "1399" "0" "c.1395_1399dup" "r.(?)" "p.(Thr467ArgfsTer2)" "" "0000568053" "00016427" "30" "1322" "0" "1322" "0" "c.1322C>G" "r.(?)" "p.(Ala441Gly)" "" "0000568054" "00016427" "30" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Asp427=)" "" "0000568056" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424GlyfsTer49)" "" "0000568057" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424GlyfsTer49)" "" "0000568058" "00016427" "50" "1170" "0" "1170" "0" "c.1170A>G" "r.(?)" "p.(Gly390=)" "" "0000568059" "00016427" "30" "1127" "-8" "1127" "-8" "c.1127-8C>T" "r.(=)" "p.(=)" "" "0000568060" "00016427" "30" "1065" "0" "1065" "0" "c.1065C>G" "r.(?)" "p.(Pro355=)" "" "0000568061" "00016427" "90" "1029" "2" "1029" "2" "c.1029+2T>C" "r.spl?" "p.?" "" "0000568062" "00016427" "30" "994" "0" "994" "0" "c.994C>T" "r.(?)" "p.(Pro332Ser)" "" "0000568063" "00016427" "10" "936" "17" "936" "17" "c.936+17dup" "r.(=)" "p.(=)" "" "0000568064" "00016427" "70" "920" "0" "922" "0" "c.920_922del" "r.(?)" "p.(Ser307del)" "" "0000568065" "00016427" "30" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Trp)" "" "0000568066" "00016427" "50" "901" "0" "901" "0" "c.901C>T" "r.(?)" "p.(Arg301Trp)" "" "0000568067" "00016427" "30" "881" "0" "881" "0" "c.881C>T" "r.(?)" "p.(Pro294Leu)" "" "0000568068" "00016427" "30" "672" "0" "672" "0" "c.672C>T" "r.(?)" "p.(Arg224=)" "" "0000568070" "00016427" "10" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Arg193=)" "" "0000568071" "00016427" "30" "579" "0" "579" "0" "c.579G>A" "r.(?)" "p.(Arg193=)" "" "0000568072" "00016427" "30" "450" "0" "450" "0" "c.450G>A" "r.(?)" "p.(Leu150=)" "" "0000568073" "00016427" "50" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000568074" "00016427" "30" "416" "0" "416" "0" "c.416G>A" "r.(?)" "p.(Arg139His)" "" "0000568075" "00016427" "30" "130" "0" "130" "0" "c.130C>A" "r.(?)" "p.(Arg44=)" "" "0000568077" "00016427" "30" "-13" "-8" "-13" "-8" "c.-13-8C>T" "r.(=)" "p.(=)" "" "0000604470" "00016427" "70" "514" "0" "514" "0" "c.514C>G" "r.(?)" "p.(Leu172Val)" "" "0000604471" "00016427" "90" "1270" "0" "1270" "0" "c.1270delinsGGGTCGCCATCGACAAC" "r.(?)" "p.(Thr424Glyfs*75)" "" "0000617810" "00016427" "30" "865" "16" "865" "16" "c.865+16C>T" "r.(=)" "p.(=)" "" "0000617812" "00016427" "30" "624" "0" "624" "0" "c.624C>T" "r.(?)" "p.(Ala208=)" "" "0000617813" "00016427" "30" "366" "0" "366" "0" "c.366C>T" "r.(?)" "p.(Thr122=)" "" "0000617814" "00016427" "30" "-13" "-8" "-13" "-8" "c.-13-8C>T" "r.(=)" "p.(=)" "" "0000624055" "00016427" "30" "865" "8" "865" "8" "c.865+8C>T" "r.(=)" "p.(=)" "" "0000624879" "00016427" "70" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Gly377Arg)" "" "0000624880" "00016427" "70" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Glu326Lys)" "" "0000630956" "00016427" "90" "198" "2" "198" "2" "c.198+2dup" "r.spl" "p.?" "" "0000630957" "00016427" "90" "198" "2" "198" "2" "c.198+2dup" "r.spl" "p.?" "" "0000630958" "00016427" "90" "198" "2" "198" "2" "c.198+2dup" "r.spl" "p.?" "" "0000650038" "00016427" "30" "1433" "0" "1433" "0" "c.1433T>G" "r.(?)" "p.(Val478Gly)" "" "0000650039" "00016427" "50" "1029" "2" "1029" "2" "c.1029+2T>C" "r.spl?" "p.?" "" "0000658639" "00016427" "50" "1094" "0" "1094" "0" "c.1094C>T" "r.(?)" "p.(Pro365Leu)" "" "0000667699" "00016427" "90" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "" "0000681484" "00016427" "30" "1360" "0" "1360" "0" "c.1360C>A" "r.(?)" "p.(Leu454Met)" "" "0000681485" "00016427" "30" "831" "0" "831" "0" "c.831G>A" "r.(?)" "p.(Thr277=)" "" "0000681486" "00016427" "30" "817" "-12" "817" "-12" "c.817-12C>T" "r.(=)" "p.(=)" "" "0000692865" "00016427" "70" "1170" "0" "1170" "0" "c.1170A>G" "r.(?)" "p.(Gly390=)" "" "0000692866" "00016427" "30" "1126" "9" "1126" "9" "c.1126+9C>T" "r.(=)" "p.(=)" "" "0000692867" "00016427" "70" "1029" "2" "1029" "2" "c.1029+2T>C" "r.spl?" "p.?" "" "0000692868" "00016427" "30" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Asn144Asp)" "" "0000692869" "00016427" "50" "109" "0" "109" "0" "c.109C>G" "r.(?)" "p.(Pro37Ala)" "" "0000704175" "00016427" "70" "63" "0" "63" "0" "c.63dup" "r.(?)" "p.(Ile22Hisfs*37)" "" "0000727486" "00016427" "30" "1491" "0" "1491" "0" "c.1491C>T" "r.(?)" "p.(Ala497=)" "" "0000727487" "00016427" "70" "1401" "0" "1402" "0" "c.1401_1402del" "r.(?)" "p.(Asp468LeufsTer25)" "" "0000727488" "00016427" "30" "1323" "0" "1323" "0" "c.1323G>T" "r.(?)" "p.(Ala441=)" "" "0000763146" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424Glyfs*49)" "" "0000786990" "00016427" "50" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Leu12Pro)" "2" "0000787517" "00016427" "70" "936" "1" "936" "1" "c.936+1G>T" "r.spl" "p.?" "10i" "0000808986" "00016427" "30" "1422" "0" "1422" "0" "c.1422G>A" "r.(?)" "p.(Val474=)" "" "0000808987" "00016427" "30" "841" "0" "841" "0" "c.841A>G" "r.(?)" "p.(Ile281Val)" "" "0000808988" "00016427" "30" "432" "0" "432" "0" "c.432C>A" "r.(?)" "p.(Asn144Lys)" "" "0000841154" "00016427" "90" "976" "0" "976" "0" "c.976G>A" "r.(?)" "p.(Glu326Lys)" "" "0000841188" "00016427" "90" "1129" "0" "1129" "0" "c.1129G>A" "r.(?)" "p.(Gly377Arg)" "" "0000866232" "00016427" "50" "566" "0" "566" "0" "c.566C>G" "r.(?)" "p.(Pro189Arg)" "" "0000920688" "00016427" "90" "1253" "0" "1269" "0" "c.1253_1269dup" "r.(?)" "p.(Thr424GlyfsTer49)" "" "0000943947" "00016427" "30" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Pro20Ser)" "" "0000943948" "00016427" "30" "1127" "-8" "1127" "-8" "c.1127-8C>T" "r.spl?" "p.?" "" "0000983601" "00016427" "30" "1497" "0" "1497" "0" "c.1497G>A" "r.(?)" "p.(Leu499=)" "" "0000983602" "00016427" "50" "1407" "0" "1409" "0" "c.1407_1409del" "r.(?)" "p.(Ser470del)" "" "0000983603" "00016427" "50" "1401" "0" "1402" "0" "c.1401_1402del" "r.(?)" "p.(Asp468LeufsTer25)" "" "0000983604" "00016427" "50" "1387" "-3" "1387" "-2" "c.1387-3_1387-2del" "r.spl?" "p.?" "" "0000983605" "00016427" "30" "1387" "-39" "1387" "-39" "c.1387-39del" "r.(=)" "p.(=)" "" "0000983606" "00016427" "30" "1126" "34" "1126" "34" "c.1126+34C>T" "r.(=)" "p.(=)" "" "0000983607" "00016427" "70" "1029" "2" "1029" "2" "c.1029+2T>C" "r.spl?" "p.?" "" "0001005019" "00016427" "30" "1448" "12" "1448" "12" "c.1448+12G>A" "r.(=)" "p.(=)" "" "0001005020" "00016427" "50" "1372" "0" "1372" "0" "c.1372C>T" "r.(?)" "p.(Arg458Cys)" "" "0001005021" "00016427" "30" "-13" "-20" "-13" "-20" "c.-13-20C>T" "r.(=)" "p.(=)" "" "0001043117" "00016427" "30" "745" "-6" "745" "-6" "c.745-6C>T" "r.(=)" "p.(=)" "" "0001056754" "00016427" "50" "1126" "5" "1126" "5" "c.1126+5G>C" "r.spl?" "p.?" "" "0001060681" "00016427" "70" "578" "4" "578" "4" "c.578+4A>G" "r.578_579ins578+1_578+3" "p.Arg193_Ile194insTrp" "" "0001060682" "00016427" "70" "1029" "2" "1029" "2" "c.1029+2T>C" "r.937_1029del" "p.Phe313_Pro343del" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 48 "{{screeningid}}" "{{variantid}}" "0000133127" "0000943947" "0000133127" "0000943948" "0000207930" "0000437644" "0000207931" "0000437645" "0000207932" "0000437646" "0000207933" "0000437647" "0000207934" "0000437648" "0000207935" "0000437649" "0000207935" "0000437650" "0000207936" "0000437651" "0000207936" "0000437652" "0000207937" "0000437653" "0000207938" "0000437654" "0000207938" "0000437655" "0000207939" "0000437656" "0000207939" "0000437657" "0000207940" "0000437658" "0000207941" "0000437659" "0000207941" "0000437660" "0000207942" "0000437661" "0000207942" "0000437662" "0000207943" "0000437663" "0000207944" "0000437664" "0000207944" "0000437665" "0000207945" "0000437666" "0000207946" "0000437667" "0000207947" "0000437668" "0000207948" "0000437669" "0000226735" "0000459759" "0000270684" "0000604470" "0000270684" "0000604471" "0000271032" "0000624879" "0000271032" "0000624880" "0000276817" "0000630956" "0000276818" "0000630957" "0000276819" "0000630958" "0000293349" "0000650038" "0000293350" "0000650039" "0000304271" "0000667699" "0000321346" "0000704175" "0000362772" "0000763146" "0000375639" "0000786990" "0000375639" "0000787517" "0000405093" "0000841154" "0000405093" "0000841188" "0000434811" "0000920688" "0000472269" "0001060681" "0000472270" "0001060682"