### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PTPRQ) # 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}}" "PTPRQ" "protein tyrosine phosphatase, receptor type, Q" "12" "q21.31" "unknown" "NG_034052.1" "UD_136018347486" "" "https://www.LOVD.nl/PTPRQ" "" "1" "9679" "374462" "603317" "1" "1" "1" "1" "Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "https://databases.lovd.nl/shared/refseq/PTPRQ_NM_001145026.2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2010-06-25 00:00:00" "00006" "2023-11-05 16:23:26" "00006" "2025-10-16 12:16:42" ## 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}}" "00025871" "PTPRQ" "mRNA" "000" "NM_001145026.2" "" "NP_001138498.1" "" "" "" "-111" "8150" "6900" "80838015" "81074052" "00006" "2023-11-05 16:19:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00350" "DFNA1" "deafness, autosomal dominant, type 1" "AD" "124900" "" "" "" "00081" "2014-03-13 13:45:31" "00006" "2021-12-10 21:51:32" "00531" "DFNB;ARNSHL" "deafness, autosomal recessive, nonsyndromic (DFNB, autosomal recessive non syndromic hearing loss (ARNSHL))" "" "" "" "" "" "00006" "2014-09-21 11:25:16" "00006" "2015-12-08 23:59:30" "03323" "DFNB84A" "deafness, autosomal recessive, type 84A (DFNB-84A)" "AR" "613391" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05338" "DFNA73" "deafness, autosomal dominant, type 73 (DFNA-73)" "AD" "617663" "" "" "" "00006" "2017-10-25 22:31:20" "00006" "2021-12-10 21:51:32" "05362" "LIS" "lissencephaly" "" "" "" "" "" "00006" "2017-12-29 12:16:43" "00006" "2023-11-27 09:41:55" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" "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 = 2 "{{geneid}}" "{{diseaseid}}" "PTPRQ" "03323" "PTPRQ" "05338" ## Individuals ## Do not remove or alter this header ## ## Count = 37 "{{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}}" "00132289" "" "" "" "2" "" "00006" "{PMID:Schraders 2010:20346435}" "2-generation family, 2 affected sisters, both children exhibit moderate hearing loss" "M" "yes" "Morocco" "" "0" "" "" "Moroccan" "" "00132290" "" "" "" "2" "" "00006" "{PMID:Schraders 2010:20346435}" "3-generation family, 2 affected brothers" "F" "no" "Netherlands" "" "0" "" "" "Dutch" "" "00132291" "" "" "" "8" "" "00088" "{PMID:Eisenberger 2018:29309402}" "4-generation family, 8 affected (4F, 4M)" "M" "no" "Germany" "" "0" "" "" "white" "FamPatIV2" "00165030" "" "" "" "1" "" "02509" "" "" "" "" "" "" "0" "" "" "" "" "00284942" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "United States" "" "0" "" "" "" "Pat259" "00284943" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "United States" "" "0" "" "" "" "Pat257" "00284944" "" "" "" "1" "" "00004" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "United States" "" "0" "" "" "" "Pat258" "00290802" "" "" "" "50" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00327134" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "" "00441097" "" "" "" "1" "" "00006" "{PMID:Qin 2023:37106574}" "2-generation family, 2 affected sisters, unaffected heterozygous parents" "F" "" "China" "" "0" "" "" "" "FamPat1/2" "00441098" "" "" "" "1" "" "00006" "{PMID:Shahin 2010:20472657}" "6-generation family, 5 affected (3F, 2M), unaffected heterozygous parents/relatives" "F;M" "yes" "Israel" "" "0" "" "" "Palestine" "family" "00441099" "" "" "" "1" "" "00006" "{PMID:Sakuma 2015:25788564}" "2-generation family, 1 affected, unaffected heterozygous parents" "M" "" "Japan" "" "0" "" "" "" "AG8960-Pat1" "00441100" "" "" "" "1" "" "00006" "{PMID:Sakuma 2015:25788564}" "2-generation family, 1 affected, unaffected heterozygous parents" "F" "" "Japan" "" "0" "" "" "" "SNS2193-Pat2" "00441101" "" "" "" "2" "" "00006" "{PMID:Sakuma 2015:25788564}" "2-generation family, 2 affected twin sisters, unaffected heterozygous parents" "F" "" "Japan" "" "0" "" "" "" "SNS2912-Pat3" "00441102" "" "" "" "2" "" "00006" "{PMID:Gao 2015:25919374}" "2-generation family, 2 affected brothers, unaffected heterozygous parents" "M" "" "China" "" "0" "" "" "" "Fam1572" "00441103" "" "" "" "1" "" "00006" "{PMID:Sang 2015:25557914}" "2-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents" "F;M" "" "China" "" "0" "" "" "Kazakh" "family" "00441104" "" "" "" "4" "" "00006" "{PMID:Ammar-Khodja 2015:26029705}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous parents" "F;M" "yes" "Algeria" "" "0" "" "" "" "Fam8" "00441113" "" "" "" "1" "" "00006" "{PMID:Wu 2018:29849575}" "2-generation family, 1 affected, unaffected heterozygous parents/relatives" "F" "" "China" "" "0" "" "" "" "family" "00441114" "" "" "" "1" "" "00006" "{PMID:Talebi 2018:29308629}" "2-generation family, 1 affected, unaffected heterozygous parents (first cousin)/relatives" "M" "yes" "Iran" "" "0" "" "" "" "patient" "00441121" "" "" "" "1" "" "00006" "{PMID:Sang 2019:31379920}" "" "" "" "China" "" "0" "" "" "" "FamHL1222" "00441355" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4437" "00441356" "" "" "" "1" "" "00006" "{PMID:Richard 2019: 30303587}" "" "" "yes" "Pakistan" "" "0" "" "" "" "DEM4123" "00441462" "" "" "" "13" "" "00006" "{PMID:Ozieblo 2019:31655630}" "5-generation family, 13 affected (5F, 8M)" "F;M" "" "Poland" "" "0" "" "" "" "family" "00441463" "" "" "" "4" "" "00006" "{PMID:Yang 2021:33478437}" "3-generation family, 4 affected (2F, 2M), segregating 2 different diseases; affected brother/sister" "F;M" "yes" "" "" "0" "" "" "China-S;Wuling Mountains" "FamPatII2/II3" "00441466" "" "" "" "1" "" "00006" "{PMID:Mahmood 2021:33997018}" "5-generation family, 5 affected (F, 4M), unaffected heterozygous parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "Punjab" "GCFHL-01" "00441473" "" "" "" "3" "" "00006" "{PMID:Vanniya 2022:34374074}" "2-generation family, affected father/daughter/son, unaffected heterozygous carrier mother" "F;M" "yes" "India" "" "0" "" "" "" "DXNCHE29" "00441475" "" "" "" "1" "" "00006" "{PMID:Jin 2022:35899188}" "2-generation family, affected sister/brother, unaffected heterozygous parents" "F;M" "" "China" "" "0" "" "" "" "family" "00441476" "" "" "" "1" "" "00006" "{PMID:Chen 2021:34956325}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "FamE" "00441499" "" "" "" "2" "" "00006" "{PMID:Boucher 2020:33229591}" "family, 2 affected" "" "" "France" "" "0" "" "" "" "PAR031" "00441500" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "PAR125" "00441529" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "3961" "00441530" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "4392" "00441531" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "" "" "" "France" "" "0" "" "" "" "B00APFU" "00441550" "" "" "" "1" "" "00006" "{PMID:Boucher 2020:33229591}" "control" "" "" "France" "" "0" "" "" "" "CIC4042" "00441651" "" "" "" "3" "" "00006" "{PMID:Naz 2017:27573290}" "family, 3 affected" "" "" "Pakistan" "" "0" "" "" "Punjab" "HLRB4" "00441656" "" "" "" "1" "" "00006" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "United States" "" "0" "" "" "" "Pat260" "00467527" "" "" "" "1" "" "04656" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Pakistan" "" "0" "" "" "" "HLRBS8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 37 "{{individualid}}" "{{diseaseid}}" "00132289" "00531" "00132290" "00531" "00132291" "06877" "00165030" "00091" "00284942" "05103" "00284943" "05103" "00284944" "05103" "00290802" "00198" "00327134" "00350" "00441097" "05086" "00441098" "05400" "00441099" "05086" "00441100" "05086" "00441101" "05086" "00441102" "05086" "00441103" "05086" "00441104" "05086" "00441113" "05086" "00441114" "05086" "00441121" "05086" "00441355" "05086" "00441356" "05086" "00441462" "06877" "00441463" "05086" "00441466" "05086" "00441473" "05086" "00441475" "05086" "00441476" "05086" "00441499" "05086" "00441500" "05086" "00441529" "05086" "00441530" "05086" "00441531" "05086" "00441550" "00000" "00441651" "05086" "00441656" "05086" "00467527" "05362" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 00198, 00350, 00531, 03323, 05086, 05103, 05338, 05362, 05400, 06877 ## Count = 26 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000105072" "00531" "00132289" "00006" "Familial, autosomal recessive" "" "autosomal recessive bilateral nonsyndromic hearing loss with vestibular dysfunction (symmetric, sensorineural, progressive, likely congenital); electronystagmography in caloric and rotary testing shows impaired vestibular function" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000105073" "00531" "00132290" "00006" "Familial, autosomal recessive" "" "autosomal recessive bilateral nonsyndromic hearing loss with vestibular dysfunction (symmetric, sensorineural, likely congenital, progressing from severe to profound); patients did not develop normal speech, delayed motor development; electronystagmography in caloric and rotary testing shows impaired vestibular function" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000218568" "05103" "00284942" "00008" "Isolated (sporadic)" "" "severe-profound hearing loss, symmetric" "" "" "" "" "" "" "" "" "" "" "" "DFNB84A" "deafness, autosomal recessive, non-syndromic" "" "0000218569" "05103" "00284943" "00008" "Isolated (sporadic)" "" "congenital, asymmetric" "" "" "" "" "" "" "" "" "" "" "" "DFNB84A" "deafness, autosomal recessive, non-syndromic" "" "0000218570" "05103" "00284944" "00008" "Familial, autosomal recessive" "" "childhood onset, mild-moderate hearing loss, symmetric" "" "" "" "" "" "" "" "" "" "" "" "DFNB84A" "deafness, autosomal recessive, non-syndromic" "" "0000330543" "05086" "00441097" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., 4y-postlingual‐delayed progressive sensorineural hearing loss" "" "" "" "" "" "" "" "" "" "" "" "" "sensorineural hearing loss" "" "0000330544" "05086" "00441104" "00006" "Familial, autosomal recessive" "" "see paper; ..., profound deafness" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330553" "05086" "00441114" "00006" "Unknown" "23y" "see paper; ..., 21m-poor response to sound" "" "" "" "" "" "" "" "" "" "" "" "" "hearing impairment" "" "0000330554" "06877" "00132291" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" "0000330561" "05086" "00441121" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" "0000330795" "05086" "00441355" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330796" "05086" "00441356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330902" "06877" "00441462" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "DFNA73" "autosomal dominant non-syndromic hearing loss" "" "0000330903" "05086" "00441463" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330906" "05086" "00441466" "00006" "Familial, autosomal recessive" "" "4y-5y progressive hearingloss" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330913" "05086" "00441473" "00006" "Familial, autosomal recessive" "" "prelingual bilateral profound sensorineural hearing loss, vestibular dysfunction" "" "" "" "" "" "" "" "" "" "" "" "DFNB84A" "hearing loss" "" "0000330915" "05086" "00441475" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000330916" "05086" "00441476" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000330937" "05086" "00441499" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330938" "05086" "00441500" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "multiplex family age-related hearing loss" "" "0000330967" "05086" "00441529" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000330968" "05086" "00441530" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000330969" "05086" "00441531" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "simplex/sporadic age-related hearing loss" "" "0000331060" "05086" "00441651" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000331071" "05086" "00441656" "00006" "Familial, autosomal recessive" "" "autosomal recessive non-syndromic\r\nhearing loss, congenital" "" "" "" "" "" "" "" "" "" "" "" "DFNB84A" "non-syndromic hearing loss" "" "0000352737" "05362" "00467527" "04656" "Familial, autosomal recessive" "" "moderate-severe hearing loss" "" "" "" "" "" "" "" "" "" "" "" "DFNB84A" "hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 37 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133125" "00132289" "1" "00006" "00115" "2010-07-22 11:33:16" "00115" "2010-08-11 09:05:02" "SEQ" "DNA" "" "" "0000133126" "00132290" "1" "00006" "00115" "2010-07-22 11:33:16" "00115" "2010-08-11 09:05:03" "SEQ" "DNA" "" "" "0000133127" "00132291" "1" "00088" "00088" "2017-09-30 11:10:09" "" "" "SEQ-NG-I" "DNA" "" "" "0000165899" "00165030" "1" "02509" "02509" "2018-06-20 17:18:44" "" "" "SEQ-NG-I" "DNA" "" "" "0000286092" "00284942" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000286093" "00284943" "1" "00004" "00008" "2020-02-05 13:36:16" "00006" "2023-11-08 15:59:54" "SEQ" "DNA" "" "" "0000286094" "00284944" "1" "00004" "00008" "2020-02-05 13:36:16" "" "" "?" "DNA" "" "" "0000291970" "00290802" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000328346" "00327134" "1" "03611" "03611" "2021-01-20 08:11:53" "" "" "SEQ-NG-I" "DNA" "" "" "0000442582" "00441097" "1" "00006" "00006" "2023-11-05 15:58:54" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442583" "00441098" "1" "00006" "00006" "2023-11-05 16:43:27" "" "" "SEQ" "DNA" "" "" "0000442584" "00441099" "1" "00006" "00006" "2023-11-05 17:02:00" "" "" "SEQ" "DNA" "" "" "0000442585" "00441100" "1" "00006" "00006" "2023-11-05 17:05:32" "" "" "SEQ" "DNA" "" "" "0000442586" "00441101" "1" "00006" "00006" "2023-11-05 17:34:54" "" "" "SEQ" "DNA" "" "" "0000442587" "00441102" "1" "00006" "00006" "2023-11-05 17:55:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442588" "00441103" "1" "00006" "00006" "2023-11-05 19:28:40" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442589" "00441104" "1" "00006" "00006" "2023-11-05 20:01:56" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442598" "00441113" "1" "00006" "00006" "2023-11-06 09:40:25" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442599" "00441114" "1" "00006" "00006" "2023-11-06 13:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442606" "00441121" "1" "00006" "00006" "2023-11-06 14:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000442841" "00441355" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442842" "00441356" "1" "00006" "00006" "2023-11-07 16:38:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442948" "00441462" "1" "00006" "00006" "2023-11-07 19:25:22" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442949" "00441463" "1" "00006" "00006" "2023-11-07 19:44:27" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442952" "00441466" "1" "00006" "00006" "2023-11-07 20:11:12" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442959" "00441473" "1" "00006" "00006" "2023-11-07 22:04:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000442961" "00441475" "1" "00006" "00006" "2023-11-07 22:19:15" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442962" "00441476" "1" "00006" "00006" "2023-11-07 22:43:59" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442985" "00441499" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000442986" "00441500" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443015" "00441529" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443016" "00441530" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443017" "00441531" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443036" "00441550" "1" "00006" "00006" "2023-11-08 15:20:43" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443137" "00441651" "1" "00006" "00006" "2023-11-08 15:40:35" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000443142" "00441656" "1" "00006" "00006" "2023-11-08 16:56:41" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469190" "00467527" "1" "04656" "00006" "2025-10-16 12:16:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 10 "{{screeningid}}" "{{geneid}}" "0000133125" "PTPRQ" "0000133126" "PTPRQ" "0000133127" "PTPRQ" "0000286092" "PTPRQ" "0000286093" "PTPRQ" "0000286094" "PTPRQ" "0000442583" "PTPRQ" "0000442584" "PTPRQ" "0000442585" "PTPRQ" "0000442586" "PTPRQ" ## 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 = 61 "{{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}}" "0000222334" "3" "90" "12" "80849470" "80849470" "subst" "0" "00006" "PTPRQ_000001" "g.80849470T>C" "" "{PMID:Schraders 2010:20346435}, {OMIM603317:0002}" "" "1369A>G (Arg457Gly)" "variants in paper are based on splice variant III" "Germline" "yes" "rs281865414" "0" "" "" "g.80460707A>G" "" "pathogenic (recessive)" "" "0000222335" "3" "90" "12" "80849355" "80849355" "subst" "0" "00006" "PTPRQ_000002" "g.80849355A>T" "" "{PMID:Schraders 2010:20346435}, {OMIM603317:0001}" "" "1491T>A (Tyr497X)" "variants in paper are based on splice variant III; common ancestor of parents" "Germline" "yes" "rs183258549" "0" "" "" "g.80460829T>A" "" "pathogenic (recessive)" "" "0000222336" "21" "90" "12" "81072783" "81072783" "subst" "0" "00088" "PTPRQ_000003" "g.81072783G>A" "" "{PMID:Eisenberger 2018:29309402}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80679004G>A" "" "pathogenic (dominant)" "" "0000369690" "0" "70" "12" "80839400" "80839400" "subst" "9.49114E-5" "02509" "PTPRQ_000040" "g.80839400C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.80445620C>T" "" "likely pathogenic" "" "0000369692" "0" "70" "12" "0" "0" "" "" "02509" "PTPRQ_000000" "g.?" "" "" "" "6177A>G (Ile2207Val)" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000641834" "1" "90" "12" "80943401" "80943401" "subst" "0" "00004" "PTPRQ_000120" "g.80943401C>A" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80549622C>A" "" "pathogenic (recessive)" "" "0000641835" "1" "90" "12" "80838182" "80838182" "subst" "6.82249E-6" "00004" "PTPRQ_000072" "g.80838182A>G" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80444402A>G" "" "pathogenic (recessive)" "" "0000641836" "1" "90" "12" "80865979" "80865979" "subst" "0.000127932" "00004" "PTPRQ_000118" "g.80865979A>C" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80472200A>C" "" "pathogenic (recessive)" "" "0000648659" "1" "10" "12" "81007527" "81007527" "subst" "0.0296648" "03575" "PTPRQ_000057" "g.81007527T>C" "50/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "50 heterozygous, no homozygous; {DB:CLININrs7963963}" "Germline" "" "rs7963963" "0" "" "" "g.80613748T>C" "" "benign" "" "0000703986" "0" "30" "12" "80943396" "80943396" "subst" "4.04182E-5" "03779" "PTPRQ_000086" "g.80943396A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs757316770" "0" "" "" "g.80549617A>G" "" "likely benign" "" "0000711844" "0" "30" "12" "80839436" "80839436" "subst" "0" "03779" "PTPRQ_000087" "g.80839436A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs756626854" "0" "" "" "g.80445656A>G" "" "likely benign" "" "0000712290" "0" "90" "12" "80849320" "80849321" "=" "0" "03611" "PTPRQ_000088" "g.80849320_80849321=" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "800delG (Thr267fs)" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80460792del" "" "likely pathogenic (dominant)" "ACMG" "0000731245" "0" "50" "12" "80839357" "80839357" "subst" "0" "03779" "PTPRQ_000092" "g.80839357G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs866361668" "0" "" "" "g.80445577G>A" "" "VUS" "" "0000853531" "0" "50" "12" "80998874" "80998874" "subst" "1.37487E-5" "02327" "PTPRQ_000096" "g.80998874C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853532" "0" "50" "12" "81015918" "81015918" "subst" "0" "01943" "PTPRQ_000097" "g.81015918G>C" "" "" "" "PTPRQ(NM_001145026.1):c.5686+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853533" "0" "30" "12" "81072772" "81072772" "subst" "0" "01943" "PTPRQ_000098" "g.81072772T>A" "" "" "" "PTPRQ(NM_001145026.1):c.6870T>A (p.V2290=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863140" "0" "90" "12" "81026023" "81026023" "subst" "0" "01943" "PTPRQ_000075" "g.81026023T>A" "" "" "" "PTPRQ(NM_001145026.1):c.5739T>A (p.C1913*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890801" "0" "50" "12" "80943255" "80943255" "subst" "4.13365E-5" "02327" "PTPRQ_000099" "g.80943255G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000943867" "1" "90" "12" "80838556" "80838556" "subst" "0" "00006" "PTPRQ_000100" "g.80838556C>A" "" "{PMID:Qin 2023:37106574}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80444776C>A" "" "pathogenic (recessive)" "" "0000943868" "2" "90" "12" "81042703" "81042703" "subst" "0" "00006" "PTPRQ_000101" "g.81042703G>A" "" "{PMID:Qin 2023:37106574}" "" "c.5426 +1G>A" "" "Germline" "yes" "" "0" "" "" "g.80648924G>A" "" "pathogenic (recessive)" "" "0000943869" "3" "90" "12" "80878310" "80878310" "subst" "0" "00006" "PTPRQ_000006" "g.80878310C>T" "" "{PMID:Shahin 2010:20472657}" "" "1285C>T" "" "Germline" "yes" "" "0" "" "" "g.80484531C>T" "" "pathogenic (recessive)" "" "0000943870" "3" "90" "12" "80878286" "80878286" "subst" "2.02186E-5" "00006" "PTPRQ_000102" "g.80878286C>T" "" "{PMID:Sakuma 2015:25788564}" "" "" "" "Germline" "" "" "0" "" "" "g.80484507C>T" "" "pathogenic (recessive)" "" "0000943871" "11" "90" "12" "80878286" "80878286" "subst" "2.02186E-5" "00006" "PTPRQ_000102" "g.80878286C>T" "" "{PMID:Sakuma 2015:25788564}" "" "" "" "Germline" "" "" "0" "" "" "g.80484507C>T" "" "pathogenic (recessive)" "" "0000943872" "20" "90" "12" "80839273" "80839273" "subst" "1.56573E-5" "00006" "PTPRQ_000103" "g.80839273C>G" "" "{PMID:Sakuma 2015:25788564}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80445493C>G" "" "pathogenic (recessive)" "" "0000943873" "21" "90" "12" "80943274" "80943274" "subst" "0" "00006" "PTPRQ_000104" "g.80943274T>C" "" "{PMID:Sakuma 2015:25788564}" "" "" "" "Germline" "" "" "0" "" "" "g.80549495T>C" "" "pathogenic (recessive)" "" "0000943874" "11" "90" "12" "81063255" "81063255" "del" "0" "00006" "PTPRQ_000105" "g.81063255del" "" "{PMID:Sakuma 2015:25788564}" "" "6453+3delA" "no proof pathogenicity given" "Germline" "" "" "0" "" "" "g.80669476del" "" "pathogenic (!)" "" "0000943875" "21" "90" "12" "80933694" "80933694" "subst" "0.00015614" "00006" "PTPRQ_000093" "g.80933694A>G" "" "{PMID:Gao 2015:25919374}" "" "" "2/656 control chromosomes" "Germline" "yes" "" "0" "" "" "g.80539915A>G" "" "pathogenic (recessive)" "" "0000943876" "11" "90" "12" "81043405" "81043405" "subst" "0" "00006" "PTPRQ_000106" "g.81043405A>G" "" "{PMID:Gao 2015:25919374}" "" "" "not in 656 control chromosomes" "Germline" "yes" "" "0" "" "" "g.80649626A>G" "" "pathogenic (recessive)" "" "0000943877" "20" "90" "12" "80927841" "80927841" "del" "0" "00006" "PTPRQ_000107" "g.80927841del" "" "{PMID:Sang 2015:25557914}" "" "2714delA" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "g.80534062del" "" "pathogenic (recessive)" "" "0000943878" "11" "90" "12" "80838146" "80838146" "dup" "0" "00006" "PTPRQ_000108" "g.80838146dup" "" "{PMID:Sang 2015:25557914}" "" "16_17insT" "" "Germline" "yes" "" "0" "" "" "g.80444366dup" "" "pathogenic (recessive)" "" "0000943879" "3" "90" "12" "81046578" "81046578" "dup" "0" "00006" "PTPRQ_000109" "g.81046578dup" "" "{PMID:Ammar-Khodja 2015:26029705}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80652799dup" "" "pathogenic (recessive)" "" "0000943890" "21" "90" "12" "81007440" "81007440" "subst" "4.08174E-5" "00006" "PTPRQ_000110" "g.81007440C>T" "" "{PMID:Wu 2018:29849575}" "" "4472C>T (T1491M)" "" "Germline" "" "" "0" "" "" "g.80613661C>T" "" "pathogenic (recessive)" "" "0000943891" "11" "90" "12" "80900381" "80900381" "subst" "0.0236391" "00006" "PTPRQ_000111" "g.80900381T>C" "" "{PMID:Wu 2018:29849575}" "" "1973T>C (V658A)" "" "Germline" "" "" "0" "" "" "g.80506602T>C" "" "pathogenic (recessive)" "" "0000943899" "11" "90" "12" "80904143" "80904143" "subst" "0.00260908" "00006" "PTPRQ_000112" "g.80904143T>C" "" "{PMID:Talebi 2018:29308629}" "" "" "" "Germline" "" "" "0" "" "" "g.80510364T>C" "" "pathogenic (recessive)" "" "0000943906" "3" "90" "12" "0" "0" "" "" "00006" "PTPRQ_000000" "g.?" "" "{PMID:Sang 2019:31379920}" "" "552delC (D184fs)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000944168" "3" "90" "12" "81007610" "81007611" "del" "0" "00006" "PTPRQ_000122" "g.81007610_81007611del" "" "{PMID:Richard 2019: 30303587}" "" "5158_5159delAT" "" "Germline" "" "" "0" "" "" "g.80613831_80613832del" "" "pathogenic (recessive)" "ACMG" "0000944169" "3" "90" "12" "81072380" "81072380" "subst" "0" "00006" "PTPRQ_000039" "g.81072380G>A" "" "{PMID:Richard 2019: 30303587}" "" "" "" "Germline" "" "" "0" "" "" "g.80678601G>A" "" "pathogenic (recessive)" "ACMG" "0000944300" "1" "90" "12" "81072783" "81072783" "subst" "0" "00006" "PTPRQ_000003" "g.81072783G>A" "" "{PMID:Ozieblo 2019:31655630}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80679004G>A" "" "pathogenic (dominant)" "" "0000944302" "3" "90" "12" "80472134" "80472134" "del" "0" "00006" "PTPRQ_000113" "g.80472134del" "" "{PMID:Yang 2021:33478437}" "" "1057_1057delC" "" "Germline" "yes" "" "0" "" "" "g.80865913del" "" "pathogenic (recessive)" "" "0000944305" "3" "90" "12" "80838519" "80838519" "subst" "0" "00006" "PTPRQ_000114" "g.80838519A>G" "" "{PMID:Mahmood 2021:33997018}" "" "" "ACMG PVS1, PM2, PP3, PP5" "Germline" "yes" "" "0" "" "" "g.80444739A>G" "" "pathogenic (recessive)" "ACMG" "0000944315" "3" "90" "12" "80940467" "80940467" "subst" "0" "00006" "PTPRQ_000115" "g.80940467C>T" "" "{PMID:Vanniya 2022:34374074}" "" "" "" "Germline" "yes" "" "0" "" "" "g.80546688C>T" "" "pathogenic (recessive)" "" "0000944317" "21" "90" "12" "80862555" "80862555" "subst" "0" "00006" "PTPRQ_000116" "g.80862555G>A" "" "{PMID:Jin 2022:35899188}" "" "997G>A" "" "Germline" "yes" "" "0" "" "" "g.80468776G>A" "" "pathogenic (recessive)" "" "0000944318" "11" "90" "12" "81066945" "81066945" "subst" "0.00020544" "00006" "PTPRQ_000117" "g.81066945T>G" "" "{PMID:Jin 2022:35899188}" "" "6603-3T>G" "" "Germline" "yes" "" "0" "" "" "g.80673166T>G" "" "pathogenic (recessive)" "" "0000944319" "21" "90" "12" "81066945" "81066945" "subst" "0.00020544" "00006" "PTPRQ_000117" "g.81066945T>G" "" "{PMID:Chen 2021:34956325}" "" "c.6087-3T>G" "effect on RNA predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.80673166T>G" "" "VUS" "" "0000944320" "11" "90" "12" "81042703" "81042703" "subst" "0" "00006" "PTPRQ_000101" "g.81042703G>A" "" "{PMID:Chen 2021:34956325}" "" "5426+1G>A" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.80648924G>A" "" "likely pathogenic (recessive)" "" "0000944344" "0" "70" "12" "80865992" "80865992" "subst" "0" "00006" "PTPRQ_000127" "g.80865992G>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80472213G>A" "" "likely pathogenic (dominant)" "" "0000944345" "0" "70" "12" "80900413" "80900413" "subst" "2.72859E-5" "00006" "PTPRQ_000126" "g.80900413C>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80506634C>T" "" "likely pathogenic (dominant)" "" "0000944374" "0" "70" "12" "80933635" "80933635" "subst" "0" "00006" "PTPRQ_000124" "g.80933635C>A" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80539856C>A" "" "likely pathogenic (dominant)" "" "0000944375" "0" "70" "12" "80981907" "80981907" "subst" "0" "00006" "PTPRQ_000123" "g.80981907G>T" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80588128G>T" "" "likely pathogenic (dominant)" "" "0000944376" "0" "70" "12" "80904180" "80904180" "del" "6.74082E-6" "00006" "PTPRQ_000125" "g.80904180del" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.80510401del" "" "likely pathogenic (dominant)" "" "0000944452" "0" "90" "12" "80862540" "80862540" "subst" "0" "00006" "PTPRQ_000128" "g.80862540C>G" "" "{PMID:Boucher 2020:33229591}" "" "" "" "Germline" "" "" "0" "" "" "g.80468761C>G" "" "VUS" "" "0000944519" "3" "90" "12" "80839296" "80839296" "del" "0" "00006" "PTPRQ_000129" "g.80839296del" "" "{PMID:Naz 2017:27573290}" "" "189delC" "" "Germline" "" "rs773511370" "0" "" "" "g.80445516del" "" "pathogenic (recessive)" "" "0000944525" "2" "90" "12" "80878386" "80878386" "subst" "6.87314E-5" "00006" "PTPRQ_000073" "g.80878386T>C" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80484607T>C" "" "pathogenic (recessive)" "" "0000944526" "2" "90" "12" "80928770" "80928770" "subst" "1.41325E-5" "00006" "PTPRQ_000119" "g.80928770A>C" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80534991A>C" "" "pathogenic (recessive)" "" "0000944527" "2" "90" "12" "81004312" "81004312" "del" "0" "00006" "PTPRQ_000121" "g.81004312del" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "4826delC" "" "Germline" "" "" "0" "" "" "g.80610533del" "" "pathogenic (recessive)" "" "0000944529" "1" "90" "12" "80839309" "80839309" "subst" "0.00922961" "00006" "PTPRQ_000045" "g.80839309G>A" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80445529G>A" "" "pathogenic (recessive)" "" "0000944530" "2" "90" "12" "80865940" "80865940" "subst" "3.36352E-5" "00006" "PTPRQ_000130" "g.80865940C>A" "" "{PMID:Sloan-Heggen 2016:26969326}" "" "" "" "Germline" "" "" "0" "" "" "g.80472161C>A" "" "pathogenic (recessive)" "" "0000980484" "0" "30" "12" "80878258" "80878258" "subst" "0.00596564" "01804" "PTPRQ_000131" "g.80878258G>A" "" "" "" "PTPRQ(NM_001145026.2):c.777G>A (p.(Thr259Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980485" "0" "50" "12" "80943308" "80943308" "subst" "0" "01804" "PTPRQ_000132" "g.80943308G>A" "" "" "" "PTPRQ(NM_001145026.2):c.3624G>A (p.(Trp1208*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026232" "0" "50" "12" "81067025" "81067025" "subst" "6.62647E-6" "02327" "PTPRQ_000133" "g.81067025A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049386" "3" "90" "12" "80860629" "80860629" "dup" "0" "04656" "PTPRQ_000002" "g.80860629dup" "" "{PMID:Khan 2024:39271758}, {DOI:Khan 2024:10.1038/s41598-024-71407-1}" "" "" "ACMG PVS1, PM2, PP5" "Germline" "" "" "0" "" "" "g.80460829T>A" "VCV000156333.2" "pathogenic (recessive)" "" ## 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 PTPRQ ## Count = 61 "{{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}}" "0000222334" "00025871" "90" "715" "0" "715" "0" "c.715A>G" "r.(?)" "p.(Arg239Gly)" "" "0000222335" "00025871" "90" "837" "0" "837" "0" "c.837T>A" "r.(?)" "p.(Tyr279Ter)" "" "0000222336" "00025871" "90" "6881" "0" "6881" "0" "c.6881G>A" "r.(?)" "p.(Trp2294*)" "" "0000369690" "00025871" "70" "293" "0" "293" "0" "c.293C>T" "r.(?)" "p.(Pro98Leu)" "" "0000369692" "00025871" "70" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000641834" "00025871" "90" "4173" "0" "4173" "0" "c.4173C>A" "r.(?)" "p.(Tyr1391Ter)" "" "0000641835" "00025871" "90" "54" "3" "54" "3" "c.54+3A>G" "r.spl?" "p.?" "" "0000641836" "00025871" "90" "1135" "0" "1135" "0" "c.1135A>C" "r.(?)" "p.(Ser379Arg)" "" "0000648659" "00025871" "10" "5075" "0" "5075" "0" "c.5075T>C" "r.(?)" "p.(Ile1692Thr)" "" "0000703986" "00025871" "30" "4168" "0" "4168" "0" "c.4168A>G" "r.(?)" "p.(Met1390Val)" "" "0000711844" "00025871" "30" "329" "0" "329" "0" "c.329A>G" "r.(?)" "p.(Lys110Arg)" "" "0000712290" "00025871" "90" "800" "0" "800" "0" "c.800del" "r.(?)" "p.(Ser267IlefsTer3)" "" "0000731245" "00025871" "50" "250" "0" "250" "0" "c.250G>A" "r.(?)" "p.(Gly84Arg)" "" "0000853531" "00025871" "50" "4646" "0" "4646" "0" "c.4646C>T" "r.(?)" "p.(Ala1549Val)" "" "0000853532" "00025871" "50" "5686" "5" "5686" "5" "c.5686+5G>C" "r.spl?" "p.?" "" "0000853533" "00025871" "30" "6870" "0" "6870" "0" "c.6870T>A" "r.(?)" "p.(Val2290=)" "" "0000863140" "00025871" "90" "5739" "0" "5739" "0" "c.5739T>A" "r.(?)" "p.(Cys1913*)" "" "0000890801" "00025871" "50" "4027" "0" "4027" "0" "c.4027G>A" "r.(?)" "p.(Val1343Met)" "" "0000943867" "00025871" "90" "0" "0" "0" "0" "p.(Tyr30Ter)" "r.(?)" "p.(Tyr30Ter)" "" "0000943868" "00025871" "90" "5942" "1" "5942" "1" "c.5942+1G>A" "r.spl" "p.?" "36i" "0000943869" "00025871" "90" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(Gln429Ter)" "" "0000943870" "00025871" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Ter)" "" "0000943871" "00025871" "90" "1261" "0" "1261" "0" "c.1261C>T" "r.(?)" "p.(Arg421Ter)" "" "0000943872" "00025871" "90" "166" "0" "166" "0" "c.166C>G" "r.(?)" "p.(Pro56Ala)" "" "0000943873" "00025871" "90" "4046" "0" "4046" "0" "c.4046T>C" "r.(?)" "p.(Met1349Thr)" "" "0000943874" "00025871" "90" "6453" "12" "6453" "12" "c.6453+12del" "r.spl?" "p.?" "" "0000943875" "00025871" "90" "3125" "0" "3125" "0" "c.3125A>G" "r.(?)" "p.(Asp1042Gly)" "" "0000943876" "00025871" "90" "5981" "0" "5981" "0" "c.5981A>G" "r.(?)" "p.(Glu1994Gly)" "" "0000943877" "00025871" "90" "2726" "0" "2726" "0" "c.2726del" "r.(?)" "p.(Glu909GlyfsTer15)" "" "0000943878" "00025871" "90" "21" "0" "21" "0" "c.21dup" "r.(?)" "p.(Leu8SerfsTer13)" "" "0000943879" "00025871" "90" "6080" "0" "6080" "0" "c.6080dup" "r.(?)" "p.(Asn2027LysfsTer2)" "" "0000943890" "00025871" "90" "4988" "0" "4988" "0" "c.4988C>T" "r.(?)" "p.(Thr1663Met)" "" "0000943891" "00025871" "90" "2489" "0" "2489" "0" "c.2489T>C" "r.(?)" "p.(Val830Ala)" "" "0000943899" "00025871" "90" "2599" "0" "2599" "0" "c.2599T>C" "r.(?)" "p.(Ser867Pro)" "" "0000943906" "00025871" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000944168" "00025871" "90" "5158" "0" "5159" "0" "c.5158_5159del" "r.(?)" "p.(Ile1720GlnfsTer7)" "" "0000944169" "00025871" "90" "6739" "-1" "6739" "-1" "c.6739-1G>A" "r.spl" "p.?" "" "0000944300" "00025871" "90" "6881" "0" "6881" "0" "c.6881G>A" "r.(?)" "p.(Trp2294Ter)" "" "0000944302" "00025871" "90" "1069" "0" "1069" "0" "c.1069del" "r.(?)" "p.(Leu357SerfsTer8)" "" "0000944305" "00025871" "90" "55" "-2" "55" "-2" "c.55-2A>G" "r.spl" "p.?" "" "0000944315" "00025871" "90" "4006" "0" "4006" "0" "c.4006C>T" "r.(?)" "p.(Gln1336Ter)" "" "0000944317" "00025871" "90" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Trp326Ter)" "" "0000944318" "00025871" "90" "6603" "-3" "6603" "-3" "c.6603-3T>G" "r.spl?" "p.?" "" "0000944319" "00025871" "90" "6603" "-3" "6603" "-3" "c.6603-3T>G" "r.(6603_6738del)" "p.(Ser2201fs)" "" "0000944320" "00025871" "90" "5942" "1" "5942" "1" "c.5942+1G>A" "r.5942_5943ins[a;5942+2_5943-1]" "p.?" "" "0000944344" "00025871" "70" "1148" "0" "1148" "0" "c.1148G>A" "r.(?)" "p.(Gly383Glu)" "" "0000944345" "00025871" "70" "2521" "0" "2521" "0" "c.2521C>T" "r.(?)" "p.(Arg841Trp)" "" "0000944374" "00025871" "70" "3066" "0" "3066" "0" "c.3066C>A" "r.(?)" "p.(Ser1022Arg)" "" "0000944375" "00025871" "70" "4286" "-1" "4286" "-1" "c.4286-1G>T" "r.spl" "p.?" "" "0000944376" "00025871" "70" "2636" "0" "2636" "0" "c.2636del" "r.(?)" "p.(Leu879ArgfsTer20)" "" "0000944452" "00025871" "90" "962" "0" "962" "0" "c.962C>G" "r.(?)" "p.(Ser321Cys)" "" "0000944519" "00025871" "90" "189" "0" "189" "0" "c.189del" "r.(?)" "p.(Glu65LysfsTer95)" "" "0000944525" "00025871" "90" "1359" "2" "1359" "2" "c.1359+2T>C" "r.spl" "p.?" "" "0000944526" "00025871" "90" "2939" "0" "2939" "0" "c.2939A>C" "r.(?)" "p.(Gln980Pro)" "" "0000944527" "00025871" "90" "4826" "0" "4826" "0" "c.4826del" "r.(?)" "p.(Ser1609LeufsTer2)" "" "0000944529" "00025871" "90" "202" "0" "202" "0" "c.202G>A" "r.(?)" "p.(Gly68Arg)" "" "0000944530" "00025871" "90" "1096" "0" "1096" "0" "c.1096C>A" "r.(?)" "p.(Pro366Thr)" "" "0000980484" "00025871" "30" "1233" "0" "1233" "0" "c.1233G>A" "r.(?)" "p.(Thr411=)" "" "0000980485" "00025871" "50" "4080" "0" "4080" "0" "c.4080G>A" "r.(?)" "p.(Trp1360*)" "" "0001026232" "00025871" "50" "6680" "0" "6680" "0" "c.6680A>G" "r.(?)" "p.(Asp2227Gly)" "" "0001049386" "00025871" "90" "837" "0" "837" "0" "c.837T>A" "r.(?)" "p.(Tyr279Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 50 "{{screeningid}}" "{{variantid}}" "0000133125" "0000222334" "0000133126" "0000222335" "0000133127" "0000222336" "0000165899" "0000369690" "0000165899" "0000369692" "0000286092" "0000641834" "0000286092" "0000944527" "0000286093" "0000641835" "0000286093" "0000944525" "0000286094" "0000641836" "0000286094" "0000944526" "0000291970" "0000648659" "0000328346" "0000712290" "0000442582" "0000943867" "0000442582" "0000943868" "0000442583" "0000943869" "0000442584" "0000943870" "0000442585" "0000943871" "0000442585" "0000943872" "0000442586" "0000943873" "0000442586" "0000943874" "0000442587" "0000943875" "0000442587" "0000943876" "0000442588" "0000943877" "0000442588" "0000943878" "0000442589" "0000943879" "0000442598" "0000943890" "0000442598" "0000943891" "0000442599" "0000943899" "0000442606" "0000943906" "0000442841" "0000944168" "0000442842" "0000944169" "0000442948" "0000944300" "0000442949" "0000944302" "0000442952" "0000944305" "0000442959" "0000944315" "0000442961" "0000944317" "0000442961" "0000944318" "0000442962" "0000944319" "0000442962" "0000944320" "0000442985" "0000944344" "0000442986" "0000944345" "0000443015" "0000944374" "0000443016" "0000944375" "0000443017" "0000944376" "0000443036" "0000944452" "0000443137" "0000944519" "0000443142" "0000944529" "0000443142" "0000944530" "0000469190" "0001049386"