### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRX) # 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}}" "PRX" "periaxin" "19" "q13.2" "unknown" "NG_007979.1" "UD_132118747724" "" "https://www.LOVD.nl/PRX" "" "1" "13797" "57716" "605725" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nVariants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB." "" "g" "https://databases.lovd.nl/shared/refseq/PRX_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2012-05-23 00:00:00" "00006" "2017-12-28 09:54:41" "00000" "2022-05-09 16:01:56" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00016986" "PRX" "transcript variant 1" "002" "NM_020956.2" "" "NP_066007.1" "" "" "" "-269" "5237" "444" "40919271" "40899671" "" "0000-00-00 00:00:00" "" "" "00023867" "PRX" "transcript variant 2" "001" "NM_181882.2" "" "NP_870998.2" "" "" "" "-269" "4588" "4386" "40919271" "40899671" "00008" "2013-11-25 16:43:20" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 8 "{{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" "2016-10-22 17:54:40" "00199" "CMT2" "Charcot-Marie-Tooth disease, type 2 (CMT-2)" "" "" "" "" "" "00006" "2013-09-13 14:35:15" "00006" "2021-12-11 13:56:28" "01387" "DejerineSottas" "Dejerine-Sottas disease (hypertrophic neuropathy)" "AD;AR" "145900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2022-01-06 13:53:03" "03781" "CMT4F" "Charcot-Marie-Tooth disease, type 4F (CMT-4F)" "AR" "614895" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05113" "CMT" "Charcot-Marie-Tooth disease (CMT)" "" "" "" "" "" "00006" "2016-01-11 01:40:57" "" "" "05157" "HMSN" "neuropathy, motor and sensory, hereditary (HMSN)" "" "" "" "" "" "00006" "2016-04-15 10:26:05" "" "" "05324" "DMD" "dystrophy, muscular, Duchenne type (DMD)" "XLR" "310200" "" "" "" "00006" "2017-09-01 17:41:21" "00006" "2021-12-10 21:51:32" "05384" "neuropathy" "neuropathy" "" "" "" "" "" "00006" "2018-01-27 20:34:06" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PRX" "01387" "PRX" "03781" ## Individuals ## Do not remove or alter this header ## ## Count = 42 "{{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}}" "00036592" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036593" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036594" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036595" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036596" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00036597" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" "" "00151385" "" "" "" "1" "" "01807" "" "" "M" "" "(Germany)" "" "0" "" "" "" "" "00151902" "" "" "" "1" "" "00006" "{PMID:Takashima 2002:12112076}" "" "" "" "" "" "0" "" "" "" "" "00151903" "" "" "" "1" "" "00006" "{PMID:Otagiri 2006:16770524}" "" "" "" "" "" "0" "" "" "" "" "00151904" "" "" "" "1" "" "00006" "{PMID:Guilbot 2001:11157804}" "" "" "" "" "" "0" "" "" "" "" "00151905" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" "" "00151906" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151907" "" "" "" "1" "" "00006" "{PMID:Nouioua 2011:21741241}" "" "" "" "" "" "0" "" "" "" "" "00151908" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151909" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2006:16534116}" "" "" "" "" "" "0" "" "" "" "" "00151910" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151911" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151912" "" "" "" "1" "" "00006" "{PMID:Auer-Grumbach 2008:18504680}" "" "" "" "" "" "0" "" "" "" "" "00151913" "" "" "" "1" "" "00006" "{PMID:Takashima 2002:12112076}" "" "" "" "" "" "0" "" "" "" "" "00151914" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151915" "" "" "" "1" "" "00006" "{PMID:Marchesi 2010:21079185}" "" "" "" "" "" "0" "" "" "" "" "00151916" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151917" "" "" "" "1" "" "00006" "{PMID:Boerkoel 2001:11133365}" "" "" "" "" "" "0" "" "" "" "" "00151918" "" "" "" "1" "" "00006" "{PMID:Kabzinska 2009:19837996}" "" "" "" "" "" "0" "" "" "" "" "00151919" "" "" "" "1" "" "00006" "{PMID:Kijima 2004:15197604}" "" "" "" "" "" "0" "" "" "" "" "00151920" "" "" "" "1" "" "00006" "{PMID:Baets 2011:21840889}" "" "" "" "" "" "0" "" "" "" "" "00219072" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat82" "00219073" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat83" "00219074" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "F" "" "(Germany)" "" "0" "" "" "" "28902413-Pat84" "00219075" "" "" "" "1" "" "00006" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "analysis 612 patients" "M" "" "(Germany)" "" "0" "" "" "" "28902413-Pat85" "00263958" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00263959" "" "" "" "1" "" "01364" "" "" "" "" "Spain" "" "0" "" "" "" "?" "00292120" "" "" "" "29" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292121" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292122" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292123" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292124" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292125" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00303628" "" "" "" "2" "" "00006" "{PMID:Makrythanasis 2014:25044680}" "family, 2 affected" "" "yes" "Egypt" "" "0" "" "" "" "Family_39" "00304660" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374451" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-5616" "00391977" "" "" "" "1" "" "03501" "MDCRC 2021, submitted" "" "M" "no" "India" "" "0" "yes" "" "" "MDCRC/1173/DBI-989" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 38 "{{individualid}}" "{{diseaseid}}" "00036592" "00198" "00036593" "00198" "00151385" "00198" "00151902" "01387" "00151903" "05113" "00151904" "05113" "00151905" "05157" "00151906" "05384" "00151907" "05113" "00151908" "01387" "00151909" "05113" "00151910" "05384" "00151911" "05384" "00151912" "05113" "00151913" "05113" "00151914" "01387" "00151915" "05384" "00151916" "01387" "00151917" "01387" "00151918" "05113" "00151919" "05113" "00151920" "05157" "00219072" "05113" "00219073" "05113" "00219074" "05113" "00219075" "05113" "00263958" "00199" "00263959" "00199" "00292120" "00198" "00292121" "00198" "00292122" "00198" "00292123" "00198" "00292124" "00198" "00292125" "00198" "00303628" "00198" "00304660" "00198" "00374451" "00198" "00391977" "05324" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00199, 01387, 03781, 05113, 05157, 05324, 05384 ## Count = 29 "{{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}}" "0000123779" "00198" "00151385" "01807" "Unknown" "" "Sensory ataxia (HP:0010871); Polyneuropathy (HP:0001271); Pes cavus (HP:0001761)" "" "" "" "" "" "" "" "" "" "" "" "0000124265" "01387" "00151902" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124266" "05113" "00151903" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124267" "05113" "00151904" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124268" "05157" "00151905" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hereditary motor & sensory neuropathy" "" "0000124269" "05384" "00151906" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124270" "05113" "00151907" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124271" "01387" "00151908" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124272" "05113" "00151909" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124273" "05384" "00151910" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124274" "05384" "00151911" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124275" "05113" "00151912" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124276" "05113" "00151913" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124277" "01387" "00151914" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124278" "05384" "00151915" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neuropathy, periaxin-related" "" "0000124279" "01387" "00151916" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124280" "01387" "00151917" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Dejerine-Sottas syndrome" "" "0000124281" "05113" "00151918" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124282" "05113" "00151919" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth disease" "" "0000124283" "05157" "00151920" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hereditary motor & sensory neuropathy" "" "0000156589" "00198" "00036592" "01164" "Unknown" "" "suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000156590" "00198" "00036593" "01164" "Unknown" "" "suspected autosomal rezessive HMSN (parents consanguine), neurogenic myatrophy" "" "" "" "" "" "" "" "" "" "hereditary motor and sensory neuropathy?" "" "0000167629" "05113" "00219072" "00006" "Familial, autosomal recessive" "" "CMT4F, Dejerine-Sottas" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000167630" "05113" "00219073" "00006" "Unknown" "" "CMT4F, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000167631" "05113" "00219074" "00006" "Unknown" "" "CMT4F, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000167632" "05113" "00219075" "00006" "Unknown" "" "CMT4F, Dejerine-Sottas; no family history" "" "" "" "" "" "" "" "" "CMT-4F" "Charcot-Marie-Tooth diseae" "" "0000230692" "00198" "00303628" "00006" "Familial, autosomal recessive" "" "see paper; ..., nonsyndromic intellectual disability/developmental delay" "" "" "" "" "" "" "" "" "" "nonsyndromic ID/DD" "" "0000269661" "00198" "00374451" "00006" "Familial, autosomal recessive" "" "Features suggestive of neuropathy" "" "" "" "" "" "" "" "" "" "neuropathy" "" "0000285267" "05324" "00391977" "03501" "Unknown" "3y" "frequent falls (HP:0002359)" "" "" "" "" "" "" "" "" "muscular dystrophy" "DMD" "" ## Screenings ## Do not remove or alter this header ## ## Count = 42 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000036662" "00036592" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036663" "00036593" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036664" "00036594" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036665" "00036595" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036666" "00036596" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000036667" "00036597" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" "" "0000152240" "00151385" "0" "01807" "01807" "2018-01-15 20:24:28" "" "" "SEQ" "DNA" "" "" "0000152759" "00151902" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152760" "00151903" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152761" "00151904" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152762" "00151905" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152763" "00151906" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152764" "00151907" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152765" "00151908" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152766" "00151909" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152767" "00151910" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152768" "00151911" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152769" "00151912" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152770" "00151913" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152771" "00151914" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152772" "00151915" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152773" "00151916" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152774" "00151917" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152775" "00151918" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152776" "00151919" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000152777" "00151920" "1" "00006" "00006" "2012-11-07 12:01:01" "" "" "SEQ" "DNA" "" "" "0000220144" "00219072" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220145" "00219073" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220146" "00219074" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000220147" "00219075" "1" "00006" "00006" "2019-02-05 12:23:36" "" "" "SEQ;SEQ-NG" "DNA" "" "targeted multigene panel" "0000265068" "00263958" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000265069" "00263959" "1" "01364" "01364" "2015-09-18 12:05:38" "" "" "SEQ" "DNA" "Blood" "" "0000293288" "00292120" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293289" "00292121" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293290" "00292122" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293291" "00292123" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293292" "00292124" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293293" "00292125" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000304756" "00303628" "1" "00006" "00006" "2020-06-17 11:20:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000305789" "00304660" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375645" "00374451" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000393219" "00391977" "1" "03501" "00006" "2021-11-19 15:49:45" "" "" "SEQ-NG" "DNA" "" "screened DMD, COL6A1, PRX, PRX, COL6A1, COL6A2, COL6A3, CAPN3, DYSF, FLNC, LAMA2, SGCA, SGCD, SGCG, PLEC, SYNE1" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{geneid}}" "0000036662" "PRX" "0000036663" "PRX" "0000036664" "PRX" "0000036665" "PRX" "0000036666" "PRX" "0000036667" "PRX" "0000152759" "PRX" "0000152760" "PRX" "0000152761" "PRX" "0000152762" "PRX" "0000152763" "PRX" "0000152764" "PRX" "0000152765" "PRX" "0000152766" "PRX" "0000152767" "PRX" "0000152768" "PRX" "0000152769" "PRX" "0000152770" "PRX" "0000152771" "PRX" "0000152772" "PRX" "0000152773" "PRX" "0000152774" "PRX" "0000152775" "PRX" "0000152776" "PRX" "0000152777" "PRX" "0000220144" "PRX" "0000220145" "PRX" "0000220146" "PRX" "0000220147" "PRX" "0000265068" "PRX" "0000265069" "PRX" "0000304756" "PRX" "0000375645" "PRX" ## 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 = 141 "{{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}}" "0000063787" "1" "50" "19" "40914249" "40914249" "subst" "0" "01164" "PRX_000056" "g.40914249G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40408342G>A" "" "VUS" "" "0000063788" "1" "50" "19" "40914106" "40914106" "subst" "0" "01164" "PRX_000070" "g.40914106C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40408199C>T" "" "VUS" "" "0000063789" "1" "10" "19" "40909821" "40909821" "subst" "0" "01164" "PRX_000071" "g.40909821C>T" "" "" "" "" "" "Germline" "" "rs2613842" "0" "" "" "g.40403914C>T" "" "benign" "" "0000063790" "1" "50" "19" "40903528" "40903528" "subst" "0.0126856" "01164" "PRX_000003" "g.40903528G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40397621G>A" "" "VUS" "" "0000063791" "1" "50" "19" "40900485" "40900485" "subst" "0" "01164" "PRX_000002" "g.40900485G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40394578G>A" "" "VUS" "" "0000063792" "1" "50" "19" "40899644" "40899644" "subst" "0" "01164" "PRX_000001" "g.40899644C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.40393737C>T" "" "VUS" "" "0000245374" "0" "90" "19" "40902770" "40902770" "del" "0" "01807" "PRX_000031" "g.40902770del" "" "" "" "1491delC" "" "Unknown" "" "" "0" "" "" "g.40396863del" "" "pathogenic" "" "0000247561" "0" "10" "19" "40901604" "40901604" "subst" "0.499768" "02330" "PRX_000052" "g.40901604A>G" "" "" "" "PRX(NM_181882.2):c.2655T>C (p.P885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395697A>G" "" "benign" "" "0000247564" "0" "10" "19" "40901614" "40901614" "subst" "0.499569" "02330" "PRX_000054" "g.40901614A>G" "" "" "" "PRX(NM_181882.2):c.2645T>C (p.V882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>G" "" "benign" "" "0000247587" "0" "10" "19" "40901614" "40901614" "subst" "0" "02330" "PRX_000055" "g.40901614A>C" "" "" "" "PRX(NM_181882.2):c.2645T>G (p.V882G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>C" "" "benign" "" "0000247616" "0" "30" "19" "40909751" "40909751" "subst" "0" "02330" "PRX_000049" "g.40909751A>C" "" "" "" "PRX(NM_020956.2):c.46T>G (p.L16V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403844A>C" "" "likely benign" "" "0000247618" "0" "30" "19" "40909747" "40909747" "subst" "0" "02330" "PRX_000048" "g.40909747A>C" "" "" "" "PRX(NM_020956.2):c.50T>G (p.V17G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403840A>C" "" "likely benign" "" "0000247625" "0" "90" "19" "40902114" "40902114" "subst" "0.0000121876" "02330" "PRX_000027" "g.40902114A>T" "" "" "" "PRX(NM_181882.2):c.2145T>A (p.C715*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396207A>T" "" "pathogenic" "" "0000247634" "0" "90" "19" "40909621" "40909621" "subst" "0" "02330" "PRX_000044" "g.40909621A>G" "" "" "" "PRX(NM_020956.2):c.176T>C (p.L59P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403714A>G" "" "pathogenic" "" "0000247648" "0" "50" "19" "40913838" "40913838" "subst" "0.00000406693" "02330" "PRX_000051" "g.40913838A>G" "" "" "" "PRX(NM_020956.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40407931A>G" "" "VUS" "" "0000248387" "0" "10" "19" "40901604" "40901604" "subst" "0.499768" "02325" "PRX_000052" "g.40901604A>G" "" "" "" "PRX(NM_181882.2):c.2655T>C (p.P885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395697A>G" "" "benign" "" "0000248421" "0" "10" "19" "40901614" "40901614" "subst" "0.499569" "02325" "PRX_000054" "g.40901614A>G" "" "" "" "PRX(NM_181882.2):c.2645T>C (p.V882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>G" "" "benign" "" "0000294516" "0" "90" "19" "40903157" "40903157" "subst" "0" "02330" "PRX_000036" "g.40903157G>A" "" "" "" "PRX(NM_181882.2):c.1102C>T (p.R368*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397250G>A" "" "pathogenic" "" "0000294517" "0" "10" "19" "40903043" "40903043" "subst" "0.00454516" "02330" "PRX_000035" "g.40903043C>T" "" "" "" "PRX(NM_181882.2):c.1216G>A (p.A406T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397136C>T" "" "benign" "" "0000294518" "0" "30" "19" "40903008" "40903008" "subst" "0.0000162598" "02330" "PRX_000034" "g.40903008C>A" "" "" "" "PRX(NM_181882.2):c.1251G>T (p.L417=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397101C>A" "" "likely benign" "" "0000294519" "0" "10" "19" "40902776" "40902776" "subst" "0.0048896" "02330" "PRX_000033" "g.40902776C>G" "" "" "" "PRX(NM_181882.2):c.1483G>C (p.E495Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396869C>G" "" "benign" "" "0000294520" "0" "10" "19" "40902768" "40902768" "subst" "0" "02330" "PRX_000032" "g.40902768G>C" "" "" "" "PRX(NM_181882.2):c.1491C>G (p.P497=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396861G>C" "" "benign" "" "0000294521" "0" "10" "19" "40902759" "40902759" "subst" "0.0000162786" "02330" "PRX_000030" "g.40902759T>C" "" "" "" "PRX(NM_181882.2):c.1500A>G (p.S500=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396852T>C" "" "benign" "" "0000294522" "0" "70" "19" "40902620" "40902620" "subst" "0" "02330" "PRX_000029" "g.40902620G>A" "" "" "" "PRX(NM_181882.2):c.1639C>T (p.Q547*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396713G>A" "" "likely pathogenic" "" "0000294523" "0" "30" "19" "40901688" "40901688" "subst" "0" "02330" "PRX_000023" "g.40901688C>T" "" "" "" "PRX(NM_181882.2):c.2571G>A (p.V857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395781C>T" "" "likely benign" "" "0000294524" "0" "10" "19" "40901484" "40901484" "subst" "0.00119791" "02330" "PRX_000069" "g.40901484G>A" "" "" "" "PRX(NM_181882.2):c.2775C>T (p.V925=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395577G>A" "" "benign" "" "0000294525" "0" "10" "19" "40904602" "40904602" "subst" "0.140819" "02330" "PRX_000043" "g.40904602G>A" "" "" "" "PRX(NM_020956.2):c.306C>T (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40398695G>A" "" "benign" "" "0000294526" "0" "50" "19" "40901073" "40901073" "subst" "0.00102372" "02330" "PRX_000067" "g.40901073C>A" "" "" "" "PRX(NM_181882.2):c.3186G>T (p.K1062N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395166C>A" "" "VUS" "" "0000294527" "0" "90" "19" "40901051" "40901051" "subst" "0.00000812539" "02330" "PRX_000066" "g.40901051G>A" "" "" "" "PRX(NM_181882.2):c.3208C>T (p.R1070*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395144G>A" "" "pathogenic" "" "0000294528" "0" "10" "19" "40901011" "40901011" "subst" "0.137363" "02330" "PRX_000065" "g.40901011G>C" "" "" "" "PRX(NM_181882.2):c.3248C>G (p.P1083R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395104G>C" "" "benign" "" "0000294529" "0" "10" "19" "40900865" "40900865" "subst" "0.945715" "02330" "PRX_000063" "g.40900865C>T" "" "" "" "PRX(NM_181882.2):c.3394G>A (p.G1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394958C>T" "" "benign" "" "0000294530" "0" "50" "19" "40900763" "40900763" "subst" "0.000992951" "02330" "PRX_000062" "g.40900763G>A" "" "" "" "PRX(NM_181882.2):c.3496C>T (p.P1166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394856G>A" "" "VUS" "" "0000294531" "0" "50" "19" "40900557" "40900557" "subst" "0.00484815" "02330" "PRX_000060" "g.40900557G>A" "" "" "" "PRX(NM_181882.2):c.3702C>T (p.G1234=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394650G>A" "" "VUS" "" "0000294532" "0" "10" "19" "40900484" "40900484" "subst" "0.000241732" "02330" "PRX_000059" "g.40900484C>T" "" "" "" "PRX(NM_181882.2):c.3775G>A (p.E1259K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394577C>T" "" "benign" "" "0000294535" "0" "10" "19" "40900200" "40900202" "del" "0" "02330" "PRX_000057" "g.40900200_40900202del" "" "" "" "PRX(NM_181882.2):c.4077_4079delGAG (p.E1361del), PRX(NM_181882.2):c.4077_4079delGGA (p.E1361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394293_40394295del" "" "benign" "" "0000294537" "0" "30" "19" "40909753" "40909753" "subst" "0" "02330" "PRX_000050" "g.40909753T>C" "" "" "" "PRX(NM_020956.2):c.44A>G (p.E15G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403846T>C" "" "likely benign" "" "0000294538" "0" "30" "19" "40909744" "40909744" "subst" "0" "02330" "PRX_000047" "g.40909744T>C" "" "" "" "PRX(NM_020956.2):c.53A>G (p.E18G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403837T>C" "" "likely benign" "" "0000294539" "0" "90" "19" "40903673" "40903673" "subst" "0" "02330" "PRX_000041" "g.40903673G>A" "" "" "" "PRX(NM_181882.2):c.586C>T (p.R196*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397766G>A" "" "pathogenic" "" "0000294540" "0" "30" "19" "40909732" "40909732" "subst" "0" "02330" "PRX_000046" "g.40909732T>C" "" "" "" "PRX(NM_020956.2):c.65A>G (p.E22G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403825T>C" "" "likely benign" "" "0000294541" "0" "10" "19" "40903528" "40903528" "subst" "0.0126856" "02330" "PRX_000053" "g.40903528G>A" "" "" "" "PRX(NM_181882.2):c.731C>T (p.A244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397621G>A" "" "benign" "" "0000294543" "0" "50" "19" "40903465" "40903465" "subst" "0.000245601" "02330" "PRX_000039" "g.40903465C>A" "" "" "" "PRX(NM_181882.2):c.794G>T (p.G265V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397558C>A" "" "VUS" "" "0000294544" "0" "50" "19" "40903436" "40903436" "subst" "0.000942362" "02330" "PRX_000038" "g.40903436G>T" "" "" "" "PRX(NM_181882.2):c.823C>A (p.L275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397529G>T" "" "VUS" "" "0000297407" "0" "10" "19" "40904602" "40904602" "subst" "0.140819" "02325" "PRX_000043" "g.40904602G>A" "" "" "" "PRX(NM_020956.2):c.306C>T (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40398695G>A" "" "benign" "" "0000297408" "0" "10" "19" "40901011" "40901011" "subst" "0.137363" "02325" "PRX_000065" "g.40901011G>C" "" "" "" "PRX(NM_181882.2):c.3248C>G (p.P1083R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395104G>C" "" "benign" "" "0000297409" "0" "10" "19" "40900865" "40900865" "subst" "0.945715" "02325" "PRX_000063" "g.40900865C>T" "" "" "" "PRX(NM_181882.2):c.3394G>A (p.G1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394958C>T" "" "benign" "" "0000299153" "0" "50" "19" "40901795" "40901795" "subst" "0.0000894563" "02329" "PRX_000025" "g.40901795C>T" "" "" "" "PRX(NM_181882.2):c.2464G>A (p.E822K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395888C>T" "" "VUS" "" "0000299154" "0" "50" "19" "40903436" "40903436" "subst" "0.000942362" "02329" "PRX_000038" "g.40903436G>T" "" "" "" "PRX(NM_181882.2):c.823C>A (p.L275I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397529G>T" "" "VUS" "" "0000301246" "0" "30" "19" "40901711" "40901711" "subst" "0.000507763" "02326" "PRX_000024" "g.40901711G>C" "" "" "" "PRX(NM_181882.2):c.2548C>G (p.P850A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395804G>C" "" "likely benign" "" "0000301247" "0" "30" "19" "40900886" "40900886" "subst" "0.00175476" "02326" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394979C>T" "" "likely benign" "" "0000306521" "0" "10" "19" "40909664" "40909664" "subst" "0.00145671" "01943" "PRX_000045" "g.40909664G>C" "" "" "" "PRX(NM_020956.2):c.133C>G (p.R45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40403757G>C" "" "benign" "" "0000306522" "0" "30" "19" "40901149" "40901149" "subst" "0.000308775" "01943" "PRX_000068" "g.40901149T>C" "" "" "" "PRX(NM_020956.2):c.*3315A>G (p.(=)), PRX(NM_181882.2):c.3110A>G (p.E1037G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395242T>C" "" "likely benign" "" "0000326497" "0" "50" "19" "40895785" "40895785" "subst" "0.0000164857" "01804" "HIPK4_000002" "g.40895785C>T" "" "" "" "HIPK4(NM_144685.3):c.25G>A (p.(Asp9Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40389878C>T" "" "VUS" "" "0000326499" "0" "50" "19" "40901149" "40901149" "subst" "0.000308775" "01804" "PRX_000068" "g.40901149T>C" "" "" "" "PRX(NM_020956.2):c.*3315A>G (p.(=)), PRX(NM_181882.2):c.3110A>G (p.E1037G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395242T>C" "" "VUS" "" "0000326503" "0" "50" "19" "40903397" "40903397" "subst" "0.0000861703" "01804" "PRX_000037" "g.40903397C>T" "" "" "" "PRX(NM_020956.2):c.*1067G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397490C>T" "" "VUS" "" "0000340025" "0" "10" "19" "40901604" "40901604" "subst" "0.499768" "02327" "PRX_000052" "g.40901604A>G" "" "" "" "PRX(NM_181882.2):c.2655T>C (p.P885=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395697A>G" "" "benign" "" "0000340026" "0" "30" "19" "40902813" "40902813" "subst" "0" "02327" "PRX_000073" "g.40902813T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40396906T>G" "" "likely benign" "" "0000340027" "0" "10" "19" "40904602" "40904602" "subst" "0.140819" "02327" "PRX_000043" "g.40904602G>A" "" "" "" "PRX(NM_020956.2):c.306C>T (p.T102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40398695G>A" "" "benign" "" "0000342734" "0" "90" "19" "40903169" "40903169" "subst" "0.0000451338" "02327" "PRX_000004" "g.40903169G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40397262G>A" "" "pathogenic" "" "0000345655" "0" "10" "19" "40900865" "40900865" "subst" "0.945715" "02327" "PRX_000063" "g.40900865C>T" "" "" "" "PRX(NM_181882.2):c.3394G>A (p.G1132R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40394958C>T" "" "benign" "" "0000346828" "0" "10" "19" "40901496" "40901496" "subst" "0.352338" "02327" "PRX_000072" "g.40901496T>C" "" "" "" "PRX(NM_181882.2):c.2763A>G (p.I921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395589T>C" "" "benign" "" "0000350683" "0" "10" "19" "40901614" "40901614" "subst" "0.499569" "02327" "PRX_000054" "g.40901614A>G" "" "" "" "PRX(NM_181882.2):c.2645T>C (p.V882A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.40395707A>G" "" "benign" "" "0000351594" "0" "90" "19" "40904662" "40904662" "del" "0" "00006" "PRX_000013" "g.40904662del" "" "{PMID:Takashima 2002:12112076}" "" "c.247delC" "" "Germline" "" "" "0" "" "" "g.40398755del" "" "pathogenic" "" "0000351595" "0" "90" "19" "40903866" "40903875" "dup" "0" "00006" "PRX_000019" "g.40903866_40903875dup" "" "{PMID:Otagiri 2006:16770524}" "" "c.385_394dupATCCAGAGTC" "" "Germline" "" "" "0" "" "" "g.40397959_40397968dup" "" "pathogenic" "" "0000351596" "0" "90" "19" "40903673" "40903673" "subst" "0" "00006" "PRX_000020" "g.40903673G>A" "" "{PMID:Guilbot 2001:11157804}" "" "" "" "Germline" "" "" "0" "" "" "g.40397766G>A" "" "pathogenic" "" "0000351597" "0" "90" "19" "40903532" "40903532" "del" "0" "00006" "PRX_000021" "g.40903532del" "" "{PMID:Baets 2011:21840889}" "" "c.730delG" "" "Germline" "" "" "0" "" "" "g.40397625del" "" "pathogenic" "" "0000351598" "0" "90" "19" "40903488" "40903489" "dup" "0" "00006" "PRX_000022" "g.40903488_40903489dup" "" "{PMID:Marchesi 2010:21079185}" "" "c.773_774dupCC" "" "Germline" "" "" "0" "" "" "g.40397581_40397582dup" "" "pathogenic" "" "0000351599" "0" "90" "19" "40903169" "40903169" "subst" "0.0000451338" "00006" "PRX_000004" "g.40903169G>A" "" "{PMID:Nouioua 2011:21741241}" "" "" "" "Germline" "" "" "0" "" "" "g.40397262G>A" "" "pathogenic" "" "0000351600" "0" "90" "19" "40903157" "40903157" "subst" "0" "00006" "PRX_000005" "g.40903157G>A" "" "{PMID:Boerkoel 2001:11133365}" "" "" "" "Germline" "" "" "0" "" "" "g.40397250G>A" "" "pathogenic" "" "0000351601" "0" "90" "19" "40903062" "40903065" "del" "0" "00006" "PRX_000006" "g.40903062_40903065del" "" "{PMID:Kabzinska 2006:16534116}" "" "c.1194_1197delTTCC" "" "Germline" "" "" "0" "" "" "g.40397155_40397158del" "" "pathogenic" "" "0000351602" "0" "90" "19" "40902620" "40902620" "subst" "0" "00006" "PRX_000007" "g.40902620G>A" "" "{PMID:Marchesi 2010:21079185}" "" "" "" "Germline" "" "" "0" "" "" "g.40396713G>A" "" "pathogenic" "" "0000351603" "0" "90" "19" "40902215" "40902215" "subst" "0" "00006" "PRX_000008" "g.40902215C>A" "" "{PMID:Marchesi 2010:21079185}" "" "" "" "Germline" "" "" "0" "" "" "g.40396308C>A" "" "pathogenic" "" "0000351604" "0" "90" "19" "40902162" "40902162" "del" "0" "00006" "PRX_000009" "g.40902162del" "" "{PMID:Auer-Grumbach 2008:18504680}" "" "c.2098delG" "" "Germline" "" "" "0" "" "" "g.40396255del" "" "pathogenic" "" "0000351605" "0" "90" "19" "40902114" "40902114" "subst" "0.0000121876" "00006" "PRX_000010" "g.40902114A>T" "" "{PMID:Takashima 2002:12112076}" "" "" "" "Germline" "" "" "0" "" "" "g.40396207A>T" "" "pathogenic" "" "0000351606" "0" "90" "19" "40901971" "40901971" "del" "0" "00006" "PRX_000011" "g.40901971del" "" "{PMID:Boerkoel 2001:11133365}" "" "c.2289delT" "" "Germline" "" "" "0" "" "" "g.40396064del" "" "pathogenic" "" "0000351607" "0" "90" "19" "40901840" "40901840" "del" "0" "00006" "PRX_000012" "g.40901840del" "" "{PMID:Marchesi 2010:21079185}" "" "c.2421delC" "" "Germline" "" "" "0" "" "" "g.40395933del" "" "pathogenic" "" "0000351608" "0" "90" "19" "40901473" "40901473" "del" "0" "00006" "PRX_000014" "g.40901473del" "" "{PMID:Boerkoel 2001:11133365}" "" "c.2787delC" "" "Germline" "" "" "0" "" "" "g.40395566del" "" "pathogenic" "" "0000351609" "0" "90" "19" "40901402" "40901402" "subst" "0.000032505" "00006" "PRX_000015" "g.40901402G>A" "" "{PMID:Boerkoel 2001:11133365}" "" "" "" "Germline" "" "" "0" "" "" "g.40395495G>A" "" "pathogenic" "" "0000351610" "0" "90" "19" "40901350" "40901350" "subst" "0.0000243815" "00006" "PRX_000016" "g.40901350C>T" "" "{PMID:Kabzinska 2009:19837996}" "" "" "" "Germline" "" "" "0" "" "" "g.40395443C>T" "" "pathogenic" "" "0000351611" "0" "90" "19" "40901051" "40901051" "subst" "0.00000812539" "00006" "PRX_000017" "g.40901051G>A" "" "{PMID:Kijima 2004:15197604}" "" "" "" "Germline" "" "" "0" "" "" "g.40395144G>A" "" "pathogenic" "" "0000351612" "0" "90" "19" "40900486" "40900487" "delins" "0" "00006" "PRX_000018" "g.40900486_40900487delinsT" "" "{PMID:Baets 2011:21840889}" "" "c.3772_3773delGGinsA" "" "Germline" "" "" "0" "" "" "g.40394579_40394580delinsT" "" "pathogenic" "" "0000455051" "3" "70" "19" "40903248" "40903248" "del" "0" "00006" "PRX_000076" "g.40903248del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "1012delG" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40397341del" "" "likely pathogenic" "ACMG" "0000455052" "3" "70" "19" "40902869" "40902869" "subst" "0.00000406994" "00006" "PRX_000077" "g.40902869G>A" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "" "" "0" "" "" "g.40396962G>A" "" "likely pathogenic" "ACMG" "0000455053" "2" "90" "19" "40901657" "40901657" "del" "0" "00006" "PRX_000079" "g.40901657del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "2602delC" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40395750del" "" "likely pathogenic" "ACMG" "0000455054" "1" "90" "19" "40903346" "40903346" "dup" "0" "00006" "PRX_000078" "g.40903346dup" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "913dupA" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40397439dup" "" "likely pathogenic" "ACMG" "0000455055" "1" "90" "19" "45599008" "45603631" "del" "0" "00006" "PRX_000075" "g.(45596564_45601452)_(45601610_45605652)del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic" "ACMG" "0000455056" "2" "90" "19" "40901139" "40901139" "del" "0.00000406253" "00006" "PRX_000080" "g.40901139del" "1/612 cases" "{PMID:Dohrn 2017:28902413}, {DOI:Dohrn 2017:10.1111/jnc.14217}" "" "3120delA" "ACMG pvs1, pm2" "Germline" "yes" "" "0" "" "" "g.40395232del" "" "likely pathogenic" "ACMG" "0000567371" "0" "30" "19" "40900197" "40900202" "del" "0" "02330" "HIPK4_000003" "g.40900197_40900202del" "" "" "" "PRX(NM_181882.2):c.4074_4079delGGAGGA (p.E1360_E1361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394290_40394295del" "" "likely benign" "" "0000567372" "0" "10" "19" "40900200" "40900202" "del" "0" "02325" "PRX_000057" "g.40900200_40900202del" "" "" "" "PRX(NM_181882.2):c.4077_4079delGAG (p.E1361del), PRX(NM_181882.2):c.4077_4079delGGA (p.E1361del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394293_40394295del" "" "benign" "" "0000567373" "0" "10" "19" "40900215" "40900215" "subst" "0.00142914" "02330" "HIPK4_000004" "g.40900215C>G" "" "" "" "PRX(NM_181882.2):c.4044G>C (p.G1348=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394308C>G" "" "benign" "" "0000567374" "0" "10" "19" "40901041" "40901041" "subst" "0.00245401" "02330" "HIPK4_000005" "g.40901041T>C" "" "" "" "PRX(NM_181882.2):c.3218A>G (p.E1073G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395134T>C" "" "benign" "" "0000567375" "0" "50" "19" "40901339" "40901339" "subst" "0.00000406478" "02330" "PRX_000081" "g.40901339C>T" "" "" "" "PRX(NM_181882.2):c.2920G>A (p.E974K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395432C>T" "" "VUS" "" "0000567376" "0" "90" "19" "40901402" "40901402" "subst" "0.000032505" "02330" "PRX_000015" "g.40901402G>A" "" "" "" "PRX(NM_181882.2):c.2857C>T (p.R953*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395495G>A" "" "pathogenic" "" "0000567377" "0" "10" "19" "40901496" "40901496" "subst" "0.352338" "02330" "PRX_000072" "g.40901496T>C" "" "" "" "PRX(NM_181882.2):c.2763A>G (p.I921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395589T>C" "" "benign" "" "0000567378" "0" "10" "19" "40901496" "40901496" "subst" "0.352338" "02325" "PRX_000072" "g.40901496T>C" "" "" "" "PRX(NM_181882.2):c.2763A>G (p.I921M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395589T>C" "" "benign" "" "0000567379" "0" "30" "19" "40901528" "40901528" "subst" "0.0000974683" "01943" "PRX_000082" "g.40901528C>T" "" "" "" "PRX(NM_181882.2):c.2731G>A (p.V911M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395621C>T" "" "likely benign" "" "0000567380" "0" "10" "19" "40901532" "40901532" "subst" "0.00774898" "02330" "PRX_000083" "g.40901532G>A" "" "" "" "PRX(NM_181882.2):c.2727C>T (p.P909=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395625G>A" "" "benign" "" "0000567381" "0" "10" "19" "40901790" "40901790" "subst" "0.00156979" "02330" "PRX_000084" "g.40901790C>T" "" "" "" "PRX(NM_181882.2):c.2469G>A (p.A823=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395883C>T" "" "benign" "" "0000567382" "0" "50" "19" "40901839" "40901839" "subst" "0" "01943" "PRX_000085" "g.40901839G>C" "" "" "" "PRX(NM_181882.2):c.2420C>G (p.P807R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395932G>C" "" "VUS" "" "0000567383" "0" "50" "19" "40901977" "40901977" "subst" "0.0000203363" "02330" "PRX_000086" "g.40901977G>A" "" "" "" "PRX(NM_181882.2):c.2282C>T (p.P761L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396070G>A" "" "VUS" "" "0000567384" "0" "50" "19" "40902005" "40902005" "subst" "0.00137619" "02330" "PRX_000026" "g.40902005C>T" "" "" "" "PRX(NM_181882.2):c.2254G>A (p.E752K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396098C>T" "" "VUS" "" "0000567385" "0" "10" "19" "40902242" "40902242" "subst" "0.00768294" "02330" "PRX_000087" "g.40902242T>C" "" "" "" "PRX(NM_181882.2):c.2017A>G (p.M673V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396335T>C" "" "benign" "" "0000567386" "0" "30" "19" "40902423" "40902423" "subst" "0.000455944" "02330" "PRX_000088" "g.40902423G>A" "" "" "" "PRX(NM_181882.2):c.1836C>T (p.A612=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396516G>A" "" "likely benign" "" "0000567387" "0" "10" "19" "40902978" "40902978" "subst" "0.00142011" "02330" "PRX_000089" "g.40902978G>A" "" "" "" "PRX(NM_181882.2):c.1281C>T (p.I427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397071G>A" "" "benign" "" "0000567388" "0" "30" "19" "40903146" "40903146" "subst" "0.0000244822" "02330" "PRX_000090" "g.40903146T>C" "" "" "" "PRX(NM_181882.2):c.1113A>G (p.E371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397239T>C" "" "likely benign" "" "0000567389" "0" "10" "19" "40903208" "40903208" "subst" "0.00493873" "02330" "PRX_000091" "g.40903208G>A" "" "" "" "PRX(NM_181882.2):c.1051C>T (p.P351S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397301G>A" "" "benign" "" "0000567390" "0" "50" "19" "40903448" "40903448" "subst" "0" "02330" "PRX_000092" "g.40903448G>A" "" "" "" "PRX(NM_181882.2):c.811C>T (p.P271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397541G>A" "" "VUS" "" "0000567392" "0" "50" "19" "40903646" "40903646" "subst" "0" "02330" "PRX_000093" "g.40903646C>G" "" "" "" "PRX(NM_181882.2):c.613G>C (p.A205P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397739C>G" "" "VUS" "" "0000567393" "0" "10" "19" "40903788" "40903788" "subst" "0.0337189" "02330" "PRX_000094" "g.40903788C>T" "" "" "" "PRX(NM_181882.2):c.471G>A (p.E157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397881C>T" "" "benign" "" "0000567395" "0" "30" "19" "40904446" "40904446" "subst" "0" "02330" "PRX_000096" "g.40904446G>A" "" "" "" "PRX(NM_020956.2):c.*18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40398539G>A" "" "likely benign" "" "0000567398" "0" "50" "19" "40913859" "40913859" "subst" "0.000097634" "02330" "PRX_000098" "g.40913859T>G" "" "" "" "PRX(NM_020956.2):c.-20A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40407952T>G" "" "VUS" "" "0000567399" "0" "10" "19" "40916265" "40916265" "subst" "0" "02330" "PRX_000099" "g.40916265G>A" "" "" "" "PRX(NM_020956.2):c.-242-1975C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40410358G>A" "" "benign" "" "0000595651" "0" "50" "19" "40903670" "40903670" "subst" "0" "01364" "PRX_000112" "g.40903670C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000595652" "0" "50" "19" "40900294" "40900295" "ins" "0" "01364" "PRX_000100" "g.40900294_40900295insG" "" "" "" "g.40900295insG" "" "Germline" "" "" "0" "" "" "g.40394387_40394388insG" "" "VUS" "" "0000617619" "0" "50" "19" "40900886" "40900886" "subst" "0.00175476" "02330" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40394979C>T" "" "VUS" "" "0000617620" "0" "30" "19" "40902685" "40902685" "subst" "0.000533496" "02327" "PRX_000102" "g.40902685A>G" "" "" "" "PRX(NM_181882.2):c.1574T>C (p.V525A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396778A>G" "" "likely benign" "" "0000624007" "0" "30" "19" "40902685" "40902685" "subst" "0.000533496" "02330" "PRX_000102" "g.40902685A>G" "" "" "" "PRX(NM_181882.2):c.1574T>C (p.V525A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40396778A>G" "" "likely benign" "" "0000624008" "0" "50" "19" "40903540" "40903540" "subst" "0.000318759" "02330" "PRX_000103" "g.40903540C>T" "" "" "" "PRX(NM_181882.2):c.719G>A (p.R240Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40397633C>T" "" "VUS" "" "0000624009" "0" "30" "19" "40909664" "40909664" "subst" "0.00145671" "02330" "PRX_000045" "g.40909664G>C" "" "" "" "PRX(NM_020956.2):c.133C>G (p.R45G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40403757G>C" "" "likely benign" "" "0000649977" "1" "30" "19" "40900557" "40900557" "subst" "0.00484815" "03575" "PRX_000060" "g.40900557G>A" "29/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "29 heterozygous; {DB:CLININrs139950446}" "Germline" "" "rs139950446" "0" "" "" "g.40394650G>A" "" "likely benign" "" "0000649978" "1" "90" "19" "40901051" "40901051" "subst" "0.00000812539" "03575" "PRX_000017" "g.40901051G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs104894708}" "Germline" "" "rs104894708" "0" "" "" "g.40395144G>A" "" "pathogenic" "" "0000649979" "1" "50" "19" "40902005" "40902005" "subst" "0.00137619" "03575" "PRX_000026" "g.40902005C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs147587689}" "Germline" "" "rs147587689" "0" "" "" "g.40396098C>T" "" "VUS" "" "0000649980" "1" "30" "19" "40903208" "40903208" "subst" "0.00493873" "03575" "PRX_000091" "g.40903208G>A" "2/2775 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs73933276}" "Germline" "" "rs73933276" "0" "" "" "g.40397301G>A" "" "likely benign" "" "0000649981" "1" "50" "19" "40903367" "40903367" "subst" "0.000618812" "03575" "PRX_000104" "g.40903367G>A" "2/2779 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs185112635}" "Germline" "" "rs185112635" "0" "" "" "g.40397460G>A" "" "VUS" "" "0000649982" "1" "50" "19" "40903814" "40903814" "subst" "0.000534393" "03575" "PRX_000105" "g.40903814C>T" "1/2780 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs142436391}" "Germline" "" "rs142436391" "0" "" "" "g.40397907C>T" "" "VUS" "" "0000658570" "0" "50" "19" "40901711" "40901711" "subst" "0.000507763" "02330" "PRX_000024" "g.40901711G>C" "" "" "" "PRX(NM_181882.2):c.2548C>G (p.P850A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.40395804G>C" "" "VUS" "" "0000668260" "3" "90" "19" "40901160" "40901160" "del" "0" "00006" "PRX_000106" "g.40901160del" "" "{PMID:Makrythanasis 2014:25044680}" "" "" "variants only partially accounts for phenotype" "Germline" "" "" "0" "" "" "g.40395253del" "" "pathogenic (recessive)" "" "0000669477" "3" "30" "19" "40900557" "40900557" "subst" "0.00484815" "03575" "PRX_000060" "g.40900557G>A" "2/2778 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs139950446}" "Germline" "" "rs139950446" "0" "" "" "g.40394650G>A" "" "likely benign" "" "0000681413" "0" "50" "19" "40900013" "40900015" "dup" "0" "02330" "HIPK4_000006" "g.40900013_40900015dup" "" "" "" "PRX(NM_181882.2):c.4244_4246dupTGT (p.V1415_S1416insL)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727367" "0" "30" "19" "40900763" "40900763" "subst" "0.000992951" "02326" "PRX_000062" "g.40900763G>A" "" "" "" "PRX(NM_181882.2):c.3496C>T (p.P1166S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727368" "0" "30" "19" "40900820" "40900820" "subst" "0.00000824056" "01943" "HIPK4_000007" "g.40900820G>A" "" "" "" "PRX(NM_181882.2):c.3439C>T (p.P1147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727369" "0" "30" "19" "40900886" "40900886" "subst" "0.00175476" "01943" "PRX_000064" "g.40900886C>T" "" "" "" "PRX(NM_181882.2):c.3373G>A (p.G1125S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727370" "0" "50" "19" "40902500" "40902500" "subst" "0" "01943" "PRX_000107" "g.40902500G>A" "" "" "" "PRX(NM_181882.2):c.1759C>T (p.L587F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727371" "0" "50" "19" "40903760" "40903760" "subst" "0.000143977" "02330" "PRX_000108" "g.40903760G>A" "" "" "" "PRX(NM_181882.2):c.499C>T (p.R167C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000786996" "3" "70" "19" "40904677" "40904677" "subst" "0" "00006" "PRX_000109" "g.40904677G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.40398770G>T" "" "likely pathogenic" "" "0000808870" "0" "50" "19" "40900141" "40900141" "subst" "0.0000498969" "02330" "HIPK4_000008" "g.40900141C>T" "" "" "" "PRX(NM_181882.2):c.4118G>A (p.R1373Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808871" "0" "30" "19" "40902153" "40902153" "subst" "0.0000771668" "02330" "PRX_000110" "g.40902153G>A" "" "" "" "PRX(NM_181882.2):c.2106C>T (p.P702=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000823961" "0" "50" "19" "40901484" "40901484" "subst" "0.00119791" "03501" "PRX_000069" "g.40901484G>A" "" "MDCRC 2021, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40395577G>A" "" "VUS" "" "0000823997" "0" "50" "19" "40899903" "40899903" "subst" "0" "03501" "PRX_000111" "g.40899903C>A" "" "MDCRC 2021, submitted" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.40393996C>A" "" "VUS" "" "0000855588" "0" "50" "19" "40901639" "40901639" "subst" "0.0000244726" "02330" "PRX_000113" "g.40901639C>T" "" "" "" "PRX(NM_181882.2):c.2620G>A (p.A874T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866130" "0" "10" "19" "40903043" "40903043" "subst" "0.00454516" "02326" "PRX_000035" "g.40903043C>T" "" "" "" "PRX(NM_181882.2):c.1216G>A (p.A406T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000866131" "0" "10" "19" "40903528" "40903528" "subst" "0.0126856" "02326" "PRX_000003" "g.40903528G>A" "" "" "" "PRX(NM_181882.2):c.731C>T (p.A244V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PRX ## Count = 246 "{{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}}" "0000063787" "00023867" "50" "-201" "0" "-201" "0" "c.-201C>T" "r.(=)" "p.(=)" "" "0000063788" "00023867" "50" "-141" "0" "-141" "0" "c.-141G>A" "r.(=)" "p.(=)" "" "0000063789" "00023867" "10" "28" "-52" "28" "-52" "c.28-52G>A" "r.(=)" "p.(=)" "" "0000063790" "00023867" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ala244Val)" "" "0000063791" "00023867" "50" "3774" "0" "3774" "0" "c.3774C>T" "r.(=)" "p.(=)" "" "0000063792" "00023867" "50" "4615" "0" "4615" "0" "c.*229G>A" "r.(=)" "p.(=)" "" "0000245374" "00023867" "90" "1491" "0" "1491" "0" "c.1491del" "r.(?)" "p.(Val499Cysfs*4)" "" "0000247561" "00023867" "10" "2655" "0" "2655" "0" "c.2655T>C" "r.(?)" "p.(Pro885=)" "" "0000247561" "00016986" "10" "3304" "0" "3304" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000247564" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Val882Ala)" "" "0000247564" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>C" "r.(=)" "p.(=)" "" "0000247587" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>G" "r.(?)" "p.(Val882Gly)" "" "0000247587" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>G" "r.(=)" "p.(=)" "" "0000247616" "00023867" "30" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Leu16Val)" "" "0000247616" "00016986" "30" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Leu16Val)" "" "0000247618" "00023867" "30" "50" "0" "50" "0" "c.50T>G" "r.(?)" "p.(Val17Gly)" "" "0000247618" "00016986" "30" "50" "0" "50" "0" "c.50T>G" "r.(?)" "p.(Val17Gly)" "" "0000247625" "00023867" "90" "2145" "0" "2145" "0" "c.2145T>A" "r.(?)" "p.(Cys715Ter)" "" "0000247625" "00016986" "90" "2794" "0" "2794" "0" "c.*2350T>A" "r.(=)" "p.(=)" "" "0000247634" "00023867" "90" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000247634" "00016986" "90" "176" "0" "176" "0" "c.176T>C" "r.(?)" "p.(Leu59Pro)" "" "0000247648" "00023867" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000247648" "00016986" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000248387" "00023867" "10" "2655" "0" "2655" "0" "c.2655T>C" "r.(?)" "p.(Pro885=)" "" "0000248387" "00016986" "10" "3304" "0" "3304" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000248421" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Val882Ala)" "" "0000248421" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>C" "r.(=)" "p.(=)" "" "0000294516" "00023867" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368Ter)" "" "0000294516" "00016986" "90" "1751" "0" "1751" "0" "c.*1307C>T" "r.(=)" "p.(=)" "" "0000294517" "00023867" "10" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Ala406Thr)" "" "0000294517" "00016986" "10" "1865" "0" "1865" "0" "c.*1421G>A" "r.(=)" "p.(=)" "" "0000294518" "00023867" "30" "1251" "0" "1251" "0" "c.1251G>T" "r.(?)" "p.(Leu417=)" "" "0000294518" "00016986" "30" "1900" "0" "1900" "0" "c.*1456G>T" "r.(=)" "p.(=)" "" "0000294519" "00023867" "10" "1483" "0" "1483" "0" "c.1483G>C" "r.(?)" "p.(Glu495Gln)" "" "0000294519" "00016986" "10" "2132" "0" "2132" "0" "c.*1688G>C" "r.(=)" "p.(=)" "" "0000294520" "00023867" "10" "1491" "0" "1491" "0" "c.1491C>G" "r.(?)" "p.(Pro497=)" "" "0000294520" "00016986" "10" "2140" "0" "2140" "0" "c.*1696C>G" "r.(=)" "p.(=)" "" "0000294521" "00023867" "10" "1500" "0" "1500" "0" "c.1500A>G" "r.(?)" "p.(Ser500=)" "" "0000294521" "00016986" "10" "2149" "0" "2149" "0" "c.*1705A>G" "r.(=)" "p.(=)" "" "0000294522" "00023867" "70" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Gln547Ter)" "" "0000294522" "00016986" "70" "2288" "0" "2288" "0" "c.*1844C>T" "r.(=)" "p.(=)" "" "0000294523" "00023867" "30" "2571" "0" "2571" "0" "c.2571G>A" "r.(?)" "p.(Val857=)" "" "0000294523" "00016986" "30" "3220" "0" "3220" "0" "c.*2776G>A" "r.(=)" "p.(=)" "" "0000294524" "00023867" "10" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "p.(Val925=)" "" "0000294524" "00016986" "10" "3424" "0" "3424" "0" "c.*2980C>T" "r.(=)" "p.(=)" "" "0000294525" "00023867" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000294525" "00016986" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000294526" "00023867" "50" "3186" "0" "3186" "0" "c.3186G>T" "r.(?)" "p.(Lys1062Asn)" "" "0000294526" "00016986" "50" "3835" "0" "3835" "0" "c.*3391G>T" "r.(=)" "p.(=)" "" "0000294527" "00023867" "90" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070Ter)" "" "0000294527" "00016986" "90" "3857" "0" "3857" "0" "c.*3413C>T" "r.(=)" "p.(=)" "" "0000294528" "00023867" "10" "3248" "0" "3248" "0" "c.3248C>G" "r.(?)" "p.(Pro1083Arg)" "" "0000294528" "00016986" "10" "3897" "0" "3897" "0" "c.*3453C>G" "r.(=)" "p.(=)" "" "0000294529" "00023867" "10" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Gly1132Arg)" "" "0000294529" "00016986" "10" "4043" "0" "4043" "0" "c.*3599G>A" "r.(=)" "p.(=)" "" "0000294530" "00023867" "50" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Pro1166Ser)" "" "0000294530" "00016986" "50" "4145" "0" "4145" "0" "c.*3701C>T" "r.(=)" "p.(=)" "" "0000294531" "00023867" "50" "3702" "0" "3702" "0" "c.3702C>T" "r.(?)" "p.(Gly1234=)" "" "0000294531" "00016986" "50" "4351" "0" "4351" "0" "c.*3907C>T" "r.(=)" "p.(=)" "" "0000294532" "00023867" "10" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Glu1259Lys)" "" "0000294532" "00016986" "10" "4424" "0" "4424" "0" "c.*3980G>A" "r.(=)" "p.(=)" "" "0000294535" "00023867" "10" "4077" "0" "4079" "0" "c.4077_4079del" "r.(?)" "p.(Glu1361del)" "" "0000294535" "00016986" "10" "4726" "0" "4728" "0" "c.*4282_*4284del" "r.(=)" "p.(=)" "" "0000294537" "00023867" "30" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Glu15Gly)" "" "0000294537" "00016986" "30" "44" "0" "44" "0" "c.44A>G" "r.(?)" "p.(Glu15Gly)" "" "0000294538" "00023867" "30" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Glu18Gly)" "" "0000294538" "00016986" "30" "53" "0" "53" "0" "c.53A>G" "r.(?)" "p.(Glu18Gly)" "" "0000294539" "00023867" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196Ter)" "" "0000294539" "00016986" "90" "1235" "0" "1235" "0" "c.*791C>T" "r.(=)" "p.(=)" "" "0000294540" "00023867" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Glu22Gly)" "" "0000294540" "00016986" "30" "65" "0" "65" "0" "c.65A>G" "r.(?)" "p.(Glu22Gly)" "" "0000294541" "00023867" "10" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ala244Val)" "" "0000294541" "00016986" "10" "1380" "0" "1380" "0" "c.*936C>T" "r.(=)" "p.(=)" "" "0000294543" "00023867" "50" "794" "0" "794" "0" "c.794G>T" "r.(?)" "p.(Gly265Val)" "" "0000294543" "00016986" "50" "1443" "0" "1443" "0" "c.*999G>T" "r.(=)" "p.(=)" "" "0000294544" "00023867" "50" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Leu275Ile)" "" "0000294544" "00016986" "50" "1472" "0" "1472" "0" "c.*1028C>A" "r.(=)" "p.(=)" "" "0000297407" "00023867" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000297407" "00016986" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000297408" "00023867" "10" "3248" "0" "3248" "0" "c.3248C>G" "r.(?)" "p.(Pro1083Arg)" "" "0000297408" "00016986" "10" "3897" "0" "3897" "0" "c.*3453C>G" "r.(=)" "p.(=)" "" "0000297409" "00023867" "10" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Gly1132Arg)" "" "0000297409" "00016986" "10" "4043" "0" "4043" "0" "c.*3599G>A" "r.(=)" "p.(=)" "" "0000299153" "00023867" "50" "2464" "0" "2464" "0" "c.2464G>A" "r.(?)" "p.(Glu822Lys)" "" "0000299153" "00016986" "50" "3113" "0" "3113" "0" "c.*2669G>A" "r.(=)" "p.(=)" "" "0000299154" "00023867" "50" "823" "0" "823" "0" "c.823C>A" "r.(?)" "p.(Leu275Ile)" "" "0000299154" "00016986" "50" "1472" "0" "1472" "0" "c.*1028C>A" "r.(=)" "p.(=)" "" "0000301246" "00023867" "30" "2548" "0" "2548" "0" "c.2548C>G" "r.(?)" "p.(Pro850Ala)" "" "0000301246" "00016986" "30" "3197" "0" "3197" "0" "c.*2753C>G" "r.(=)" "p.(=)" "" "0000301247" "00023867" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000301247" "00016986" "30" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000306521" "00023867" "10" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000306521" "00016986" "10" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000306522" "00023867" "30" "3110" "0" "3110" "0" "c.3110A>G" "r.(?)" "p.(Glu1037Gly)" "" "0000306522" "00016986" "30" "3759" "0" "3759" "0" "c.*3315A>G" "r.(=)" "p.(=)" "" "0000326497" "00023867" "50" "8474" "0" "8474" "0" "c.*4088G>A" "r.(=)" "p.(=)" "" "0000326497" "00016986" "50" "9123" "0" "9123" "0" "c.*8679G>A" "r.(=)" "p.(=)" "" "0000326499" "00023867" "50" "3110" "0" "3110" "0" "c.3110A>G" "r.(?)" "p.(Glu1037Gly)" "" "0000326499" "00016986" "50" "3759" "0" "3759" "0" "c.*3315A>G" "r.(=)" "p.(=)" "" "0000326503" "00023867" "50" "862" "0" "862" "0" "c.862G>A" "r.(?)" "p.(Val288Met)" "" "0000326503" "00016986" "50" "1511" "0" "1511" "0" "c.*1067G>A" "r.(=)" "p.(=)" "" "0000340025" "00023867" "10" "2655" "0" "2655" "0" "c.2655T>C" "r.(?)" "p.(Pro885=)" "" "0000340025" "00016986" "10" "3304" "0" "3304" "0" "c.*2860T>C" "r.(=)" "p.(=)" "" "0000340026" "00023867" "30" "1446" "0" "1446" "0" "c.1446A>C" "r.(?)" "p.(Pro482=)" "" "0000340026" "00016986" "30" "2095" "0" "2095" "0" "c.*1651A>C" "r.(=)" "p.(=)" "" "0000340027" "00023867" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000340027" "00016986" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(Thr102=)" "" "0000342734" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364Ter)" "" "0000342734" "00016986" "90" "1739" "0" "1739" "0" "c.*1295C>T" "r.(=)" "p.(=)" "" "0000345655" "00023867" "10" "3394" "0" "3394" "0" "c.3394G>A" "r.(?)" "p.(Gly1132Arg)" "" "0000345655" "00016986" "10" "4043" "0" "4043" "0" "c.*3599G>A" "r.(=)" "p.(=)" "" "0000346828" "00023867" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Ile921Met)" "" "0000346828" "00016986" "10" "3412" "0" "3412" "0" "c.*2968A>G" "r.(=)" "p.(=)" "" "0000350683" "00023867" "10" "2645" "0" "2645" "0" "c.2645T>C" "r.(?)" "p.(Val882Ala)" "" "0000350683" "00016986" "10" "3294" "0" "3294" "0" "c.*2850T>C" "r.(=)" "p.(=)" "" "0000351594" "00023867" "90" "247" "0" "247" "0" "c.247del" "r.(?)" "p.(Leu83Cysfs*14)" "6" "0000351595" "00023867" "90" "385" "0" "394" "0" "c.385_394dup" "r.(?)" "p.(Leu132Hisfs*22)" "7" "0000351596" "00023867" "90" "586" "0" "586" "0" "c.586C>T" "r.(?)" "p.(Arg196*)" "7" "0000351597" "00023867" "90" "730" "0" "730" "0" "c.730del" "r.(?)" "p.(Ala244Argfs*69)" "7" "0000351598" "00023867" "90" "773" "0" "774" "0" "c.773_774dup" "r.(?)" "p.(Ser259Profs*55)" "7" "0000351599" "00023867" "90" "1090" "0" "1090" "0" "c.1090C>T" "r.(?)" "p.(Arg364*)" "7" "0000351600" "00023867" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Arg368*)" "7" "0000351601" "00023867" "90" "1194" "0" "1197" "0" "c.1194_1197del" "r.(?)" "p.(Leu400Trpfs*11)" "7" "0000351602" "00023867" "90" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Gln547*)" "7" "0000351603" "00023867" "90" "2044" "0" "2044" "0" "c.2044G>T" "r.(?)" "p.(Glu682*)" "7" "0000351604" "00023867" "90" "2098" "0" "2098" "0" "c.2098del" "r.(?)" "p.(Ala700Profs*18)" "7" "0000351605" "00023867" "90" "2145" "0" "2145" "0" "c.2145T>A" "r.(?)" "p.(Cys715*)" "7" "0000351606" "00023867" "90" "2289" "0" "2289" "0" "c.2289del" "r.(?)" "p.(Asp765Thrfs*10)" "7" "0000351607" "00023867" "90" "2421" "0" "2421" "0" "c.2421del" "r.(?)" "p.(Lys808Serfs*2)" "7" "0000351608" "00023867" "90" "2787" "0" "2787" "0" "c.2787del" "r.(?)" "p.(Lys930Serfs*28)" "7" "0000351609" "00023867" "90" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Arg953*)" "7" "0000351610" "00023867" "90" "2909" "0" "2909" "0" "c.2909G>A" "r.(?)" "p.(Arg970Gln)" "7" "0000351611" "00023867" "90" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070*)" "7" "0000351612" "00023867" "90" "3772" "0" "3773" "0" "c.3772_3773delinsA" "r.(?)" "p.(Gly1258Thrfs*124)" "7" "0000455051" "00023867" "70" "1012" "0" "1012" "0" "c.1012del" "r.(?)" "p.(Ala338Profs*18)" "" "0000455052" "00023867" "70" "1390" "0" "1390" "0" "c.1390C>T" "r.(?)" "p.(Arg464*)" "" "0000455053" "00023867" "90" "2602" "0" "2602" "0" "c.2602del" "r.(?)" "p.(Gln868Argfs*53)" "" "0000455054" "00023867" "90" "913" "0" "913" "0" "c.913dup" "r.(?)" "p.(Thr305Asnfs*48)" "" "0000455055" "00023867" "90" "28" "0" "185" "0" "c.(27+1_28-1)_(184+1_185-1)del" "r.?" "p.?" "4i_5i" "0000455056" "00023867" "90" "3120" "0" "3120" "0" "c.3120del" "r.(?)" "p.(Val1042Trpfs*15)" "" "0000567371" "00023867" "30" "4074" "0" "4079" "0" "c.4074_4079del" "r.(?)" "p.(Glu1360_Glu1361del)" "" "0000567371" "00016986" "30" "4723" "0" "4728" "0" "c.*4279_*4284del" "r.(=)" "p.(=)" "" "0000567372" "00023867" "10" "4077" "0" "4079" "0" "c.4077_4079del" "r.(?)" "p.(Glu1361del)" "" "0000567372" "00016986" "10" "4726" "0" "4728" "0" "c.*4282_*4284del" "r.(=)" "p.(=)" "" "0000567373" "00023867" "10" "4044" "0" "4044" "0" "c.4044G>C" "r.(?)" "p.(Gly1348=)" "" "0000567373" "00016986" "10" "4693" "0" "4693" "0" "c.*4249G>C" "r.(=)" "p.(=)" "" "0000567374" "00023867" "10" "3218" "0" "3218" "0" "c.3218A>G" "r.(?)" "p.(Glu1073Gly)" "" "0000567374" "00016986" "10" "3867" "0" "3867" "0" "c.*3423A>G" "r.(=)" "p.(=)" "" "0000567375" "00023867" "50" "2920" "0" "2920" "0" "c.2920G>A" "r.(?)" "p.(Glu974Lys)" "" "0000567375" "00016986" "50" "3569" "0" "3569" "0" "c.*3125G>A" "r.(=)" "p.(=)" "" "0000567376" "00023867" "90" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Arg953Ter)" "" "0000567376" "00016986" "90" "3506" "0" "3506" "0" "c.*3062C>T" "r.(=)" "p.(=)" "" "0000567377" "00023867" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Ile921Met)" "" "0000567377" "00016986" "10" "3412" "0" "3412" "0" "c.*2968A>G" "r.(=)" "p.(=)" "" "0000567378" "00023867" "10" "2763" "0" "2763" "0" "c.2763A>G" "r.(?)" "p.(Ile921Met)" "" "0000567378" "00016986" "10" "3412" "0" "3412" "0" "c.*2968A>G" "r.(=)" "p.(=)" "" "0000567379" "00023867" "30" "2731" "0" "2731" "0" "c.2731G>A" "r.(?)" "p.(Val911Met)" "" "0000567379" "00016986" "30" "3380" "0" "3380" "0" "c.*2936G>A" "r.(=)" "p.(=)" "" "0000567380" "00023867" "10" "2727" "0" "2727" "0" "c.2727C>T" "r.(?)" "p.(Pro909=)" "" "0000567380" "00016986" "10" "3376" "0" "3376" "0" "c.*2932C>T" "r.(=)" "p.(=)" "" "0000567381" "00023867" "10" "2469" "0" "2469" "0" "c.2469G>A" "r.(?)" "p.(Ala823=)" "" "0000567381" "00016986" "10" "3118" "0" "3118" "0" "c.*2674G>A" "r.(=)" "p.(=)" "" "0000567382" "00023867" "50" "2420" "0" "2420" "0" "c.2420C>G" "r.(?)" "p.(Pro807Arg)" "" "0000567382" "00016986" "50" "3069" "0" "3069" "0" "c.*2625C>G" "r.(=)" "p.(=)" "" "0000567383" "00023867" "50" "2282" "0" "2282" "0" "c.2282C>T" "r.(?)" "p.(Pro761Leu)" "" "0000567383" "00016986" "50" "2931" "0" "2931" "0" "c.*2487C>T" "r.(=)" "p.(=)" "" "0000567384" "00023867" "50" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(Glu752Lys)" "" "0000567384" "00016986" "50" "2903" "0" "2903" "0" "c.*2459G>A" "r.(=)" "p.(=)" "" "0000567385" "00023867" "10" "2017" "0" "2017" "0" "c.2017A>G" "r.(?)" "p.(Met673Val)" "" "0000567385" "00016986" "10" "2666" "0" "2666" "0" "c.*2222A>G" "r.(=)" "p.(=)" "" "0000567386" "00023867" "30" "1836" "0" "1836" "0" "c.1836C>T" "r.(?)" "p.(Ala612=)" "" "0000567386" "00016986" "30" "2485" "0" "2485" "0" "c.*2041C>T" "r.(=)" "p.(=)" "" "0000567387" "00023867" "10" "1281" "0" "1281" "0" "c.1281C>T" "r.(?)" "p.(Ile427=)" "" "0000567387" "00016986" "10" "1930" "0" "1930" "0" "c.*1486C>T" "r.(=)" "p.(=)" "" "0000567388" "00023867" "30" "1113" "0" "1113" "0" "c.1113A>G" "r.(?)" "p.(Glu371=)" "" "0000567388" "00016986" "30" "1762" "0" "1762" "0" "c.*1318A>G" "r.(=)" "p.(=)" "" "0000567389" "00023867" "10" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Pro351Ser)" "" "0000567389" "00016986" "10" "1700" "0" "1700" "0" "c.*1256C>T" "r.(=)" "p.(=)" "" "0000567390" "00023867" "50" "811" "0" "811" "0" "c.811C>T" "r.(?)" "p.(Pro271Ser)" "" "0000567390" "00016986" "50" "1460" "0" "1460" "0" "c.*1016C>T" "r.(=)" "p.(=)" "" "0000567392" "00023867" "50" "613" "0" "613" "0" "c.613G>C" "r.(?)" "p.(Ala205Pro)" "" "0000567392" "00016986" "50" "1262" "0" "1262" "0" "c.*818G>C" "r.(=)" "p.(=)" "" "0000567393" "00023867" "10" "471" "0" "471" "0" "c.471G>A" "r.(?)" "p.(Glu157=)" "" "0000567393" "00016986" "10" "1120" "0" "1120" "0" "c.*676G>A" "r.(=)" "p.(=)" "" "0000567395" "00023867" "30" "381" "81" "381" "81" "c.381+81C>T" "r.(=)" "p.(=)" "" "0000567395" "00016986" "30" "462" "0" "462" "0" "c.*18C>T" "r.(=)" "p.(=)" "" "0000567398" "00023867" "50" "-20" "0" "-20" "0" "c.-20A>C" "r.(?)" "p.(=)" "" "0000567398" "00016986" "50" "-20" "0" "-20" "0" "c.-20A>C" "r.(?)" "p.(=)" "" "0000567399" "00023867" "10" "-242" "-1975" "-242" "-1975" "c.-242-1975C>T" "r.(=)" "p.(=)" "" "0000567399" "00016986" "10" "-242" "-1975" "-242" "-1975" "c.-242-1975C>T" "r.(=)" "p.(=)" "" "0000595651" "00023867" "50" "589" "0" "589" "0" "c.589G>T" "r.(?)" "p.(Glu197*)" "" "0000595651" "00016986" "50" "1238" "0" "1238" "0" "c.*794G>T" "r.(=)" "p.(=)" "" "0000595652" "00023867" "50" "3964" "0" "3965" "0" "c.3964_3965insC" "r.(?)" "p.(Glu1322Alafs*3)" "" "0000595652" "00016986" "50" "4613" "0" "4614" "0" "c.*4169_*4170insC" "r.(=)" "p.(=)" "" "0000617619" "00023867" "50" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000617619" "00016986" "50" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000617620" "00023867" "30" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Val525Ala)" "" "0000617620" "00016986" "30" "2223" "0" "2223" "0" "c.*1779T>C" "r.(=)" "p.(=)" "" "0000624007" "00023867" "30" "1574" "0" "1574" "0" "c.1574T>C" "r.(?)" "p.(Val525Ala)" "" "0000624007" "00016986" "30" "2223" "0" "2223" "0" "c.*1779T>C" "r.(=)" "p.(=)" "" "0000624008" "00023867" "50" "719" "0" "719" "0" "c.719G>A" "r.(?)" "p.(Arg240Gln)" "" "0000624008" "00016986" "50" "1368" "0" "1368" "0" "c.*924G>A" "r.(=)" "p.(=)" "" "0000624009" "00023867" "30" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000624009" "00016986" "30" "133" "0" "133" "0" "c.133C>G" "r.(?)" "p.(Arg45Gly)" "" "0000649977" "00023867" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(=)" "p.(=)" "" "0000649977" "00016986" "30" "4351" "0" "4351" "0" "c.*3907C>T" "r.(=)" "p.(=)" "" "0000649978" "00023867" "90" "3208" "0" "3208" "0" "c.3208C>T" "r.(?)" "p.(Arg1070*)" "" "0000649978" "00016986" "90" "3857" "0" "3857" "0" "c.*3413C>T" "r.(=)" "p.(=)" "" "0000649979" "00023867" "50" "2254" "0" "2254" "0" "c.2254G>A" "r.(?)" "p.(Glu752Lys)" "" "0000649979" "00016986" "50" "2903" "0" "2903" "0" "c.*2459G>A" "r.(=)" "p.(=)" "" "0000649980" "00023867" "30" "1051" "0" "1051" "0" "c.1051C>T" "r.(?)" "p.(Pro351Ser)" "" "0000649980" "00016986" "30" "1700" "0" "1700" "0" "c.*1256C>T" "r.(=)" "p.(=)" "" "0000649981" "00023867" "50" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Pro298Ser)" "" "0000649981" "00016986" "50" "1541" "0" "1541" "0" "c.*1097C>T" "r.(=)" "p.(=)" "" "0000649982" "00023867" "50" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Ala149Thr)" "" "0000649982" "00016986" "50" "1094" "0" "1094" "0" "c.*650G>A" "r.(=)" "p.(=)" "" "0000658570" "00023867" "50" "2548" "0" "2548" "0" "c.2548C>G" "r.(?)" "p.(Pro850Ala)" "" "0000658570" "00016986" "50" "3197" "0" "3197" "0" "c.*2753C>G" "r.(=)" "p.(=)" "" "0000668260" "00023867" "90" "3099" "0" "3099" "0" "c.3099del" "r.(?)" "p.(Glu1034Argfs*5)" "" "0000669477" "00023867" "30" "3702" "0" "3702" "0" "c.3702C>T" "r.(=)" "p.(=)" "" "0000669477" "00016986" "30" "4351" "0" "4351" "0" "c.*3907C>T" "r.(=)" "p.(=)" "" "0000681413" "00023867" "50" "4244" "0" "4246" "0" "c.4244_4246dup" "r.(?)" "p.(Val1415_Ser1416insLeu)" "" "0000681413" "00016986" "50" "4893" "0" "4895" "0" "c.*4449_*4451dup" "r.(=)" "p.(=)" "" "0000727367" "00023867" "30" "3496" "0" "3496" "0" "c.3496C>T" "r.(?)" "p.(Pro1166Ser)" "" "0000727367" "00016986" "30" "4145" "0" "4145" "0" "c.*3701C>T" "r.(=)" "p.(=)" "" "0000727368" "00023867" "30" "3439" "0" "3439" "0" "c.3439C>T" "r.(?)" "p.(Pro1147Ser)" "" "0000727368" "00016986" "30" "4088" "0" "4088" "0" "c.*3644C>T" "r.(=)" "p.(=)" "" "0000727369" "00023867" "30" "3373" "0" "3373" "0" "c.3373G>A" "r.(?)" "p.(Gly1125Ser)" "" "0000727369" "00016986" "30" "4022" "0" "4022" "0" "c.*3578G>A" "r.(=)" "p.(=)" "" "0000727370" "00023867" "50" "1759" "0" "1759" "0" "c.1759C>T" "r.(?)" "p.(Leu587Phe)" "" "0000727370" "00016986" "50" "2408" "0" "2408" "0" "c.*1964C>T" "r.(=)" "p.(=)" "" "0000727371" "00023867" "50" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Cys)" "" "0000727371" "00016986" "50" "1148" "0" "1148" "0" "c.*704C>T" "r.(=)" "p.(=)" "" "0000786996" "00016986" "70" "231" "0" "231" "0" "c.231C>A" "r.(?)" "p.(Tyr77Ter)" "6" "0000808870" "00023867" "50" "4118" "0" "4118" "0" "c.4118G>A" "r.(?)" "p.(Arg1373Gln)" "" "0000808870" "00016986" "50" "4767" "0" "4767" "0" "c.*4323G>A" "r.(=)" "p.(=)" "" "0000808871" "00023867" "30" "2106" "0" "2106" "0" "c.2106C>T" "r.(?)" "p.(Pro702=)" "" "0000808871" "00016986" "30" "2755" "0" "2755" "0" "c.*2311C>T" "r.(=)" "p.(=)" "" "0000823961" "00023867" "50" "2775" "0" "2775" "0" "c.2775C>T" "r.(?)" "Val925(=)" "7" "0000823997" "00023867" "50" "4356" "0" "4356" "0" "c.4356G>T" "r.(?)" "p.(Arg1452Ser)" "7" "0000855588" "00023867" "50" "2620" "0" "2620" "0" "c.2620G>A" "r.(?)" "p.(Ala874Thr)" "" "0000855588" "00016986" "50" "3269" "0" "3269" "0" "c.*2825G>A" "r.(=)" "p.(=)" "" "0000866130" "00023867" "10" "1216" "0" "1216" "0" "c.1216G>A" "r.(?)" "p.(Ala406Thr)" "" "0000866130" "00016986" "10" "1865" "0" "1865" "0" "c.*1421G>A" "r.(=)" "p.(=)" "" "0000866131" "00023867" "10" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ala244Val)" "" "0000866131" "00016986" "10" "1380" "0" "1380" "0" "c.*936C>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000036662" "0000063787" "0000036663" "0000063788" "0000036664" "0000063789" "0000036665" "0000063790" "0000036666" "0000063791" "0000036667" "0000063792" "0000152240" "0000245374" "0000152759" "0000351594" "0000152760" "0000351595" "0000152761" "0000351596" "0000152762" "0000351597" "0000152763" "0000351598" "0000152764" "0000351599" "0000152765" "0000351600" "0000152766" "0000351601" "0000152767" "0000351602" "0000152768" "0000351603" "0000152769" "0000351604" "0000152770" "0000351605" "0000152771" "0000351606" "0000152772" "0000351607" "0000152773" "0000351608" "0000152774" "0000351609" "0000152775" "0000351610" "0000152776" "0000351611" "0000152777" "0000351612" "0000220144" "0000455051" "0000220145" "0000455052" "0000220146" "0000455053" "0000220146" "0000455054" "0000220147" "0000455055" "0000220147" "0000455056" "0000265068" "0000595651" "0000265069" "0000595652" "0000293288" "0000649977" "0000293289" "0000649978" "0000293290" "0000649979" "0000293291" "0000649980" "0000293292" "0000649981" "0000293293" "0000649982" "0000304756" "0000668260" "0000305789" "0000669477" "0000375645" "0000786996" "0000393219" "0000823961" "0000393219" "0000823997"