### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = STRC) # 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}}" "STRC" "stereocilin" "15" "q15.3" "unknown" "NG_011636.1" "UD_132118732010" "" "https://www.LOVD.nl/STRC" "" "1" "16035" "161497" "606440" "1" "1" "1" "1" "The database is curated by the Montpellier Usher group.
You can directly access the STRC database using: www.LOVD.nl/STRC
If you wish to perform particular analyses, please do not hesitate to contact us. We hope that you will find these databases useful!
This database is one of the ”Retinal and hearing impairment genetic variant databases”.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/STRC_codingDNA.html" "1" "" "
\r\nThis database is one of the ”Retinal and hearing impairment genetic variant databases”." "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00110" "2018-07-20 15:09:13" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00020502" "STRC" "stereocilin" "001" "NM_153700.2" "" "NP_714544.1" "" "" "" "-78" "5437" "5328" "43910998" "43891761" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "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" "02466" "DFNB16" "deafness, autosomal recessive, type 16 (DFNB-16)" "AR" "603720" "" "" "" "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" "05400" "DFNB" "deafness, autosomal recessive (DFNB)" "" "" "" "autosomal recessive" "" "00006" "2018-02-24 17:20:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "STRC" "02466" "STRC" "05400" ## Individuals ## Do not remove or alter this header ## ## Count = 44 "{{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}}" "00059140" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059166" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00059188" "" "" "" "1" "" "01551" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "" "" "0" "" "" "" "" "00060269" "" "" "" "3" "" "01542" "{PMID:Francey 2012:22147502}, {DOI:Francey 2012:10.1002/ajmg.a.34391}" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060271" "" "" "" "1" "" "01542" "" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060273" "" "" "" "2" "" "01542" "Karen Avraham Laboratory" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060274" "" "" "" "1" "" "01542" "Karen Avraham Laboratory" "" "" "no" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "" "00060279" "" "" "" "1" "" "00006" "" "182 deafness controls" "" "" "Israel" "" "0" "" "" "" "" "00080020" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00080030" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00080032" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00080048" "" "" "" "1" "" "01740" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "" "" "0" "" "" "" "" "00117282" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1511" "00117283" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "no" "France" "" "0" "" "" "" "S1516" "00117284" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1537" "00117285" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1637" "00117286" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1696" "00117287" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1733" "00117288" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "?" "France" "" "0" "" "" "" "S1783" "00117289" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1800" "00117290" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1812" "00117291" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "M" "?" "France" "" "0" "" "" "" "S1541" "00117292" "" "" "" "1" "" "00110" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "Proband" "F" "no" "France" "" "0" "" "" "" "S1802" "00173910" "" "" "" "3" "" "00048" "" "" "M" "no" "Norway" "" "0" "" "" "" "Family STRC: Ind. III:6" "00228149" "" "" "" "1" "" "00006" "{PMID:Mahfood 2019:30758234}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Arab Emirates" "" "0" "" "" "" "FamPatII3" "00275926" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB135-228" "00275927" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB286-570" "00275928" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB287-572" "00275929" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB248-480" "00275930" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SH229-533" "00275931" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB433-840" "00275932" "" "" "" "1" "" "03557" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Korea" "" "0" "" "" "" "SB118-210" "00291213" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291214" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291215" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295947" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "05y" "" "" "" "Asian" "SB118-210" "00295953" "" "" "" "1" "" "03607" "" "" "M" "?" "Korea, South (Republic)" "00y06m" "" "" "" "Asian" "SB88-158" "00314777" "" "" "" "2" "" "00006" "{DOI:Kannan-Sundhari 2020:32991204}" "4-generation family, 2 affected sisters, unaffected heterozygous carrier parents/relatives" "F" "yes" "Iran" "" "0" "" "" "" "KF-TP" "00327074" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB286-570" "00327075" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB248-490" "00327076" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SB287-572" "00327077" "" "" "" "1" "" "03611" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "" "Korea, South (Republic)" "" "0" "" "" "" "SH110-228" "00384626" "" "" "" "1" "" "00000" "{PMID:Ehrenberg 2019:31814694}" "" "F" "yes" "Israel" "" "0" "" "" "" "Family 4 patient 1" "00397400" "" "" "" "2" "" "00006" "{PMID:Choi 2013:23990876}" "family, 2 affected" "" "" "Korea" "" "0" "" "" "" "SB38-75" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 44 "{{individualid}}" "{{diseaseid}}" "00059140" "00531" "00059166" "00531" "00059188" "00531" "00060269" "02466" "00060271" "02466" "00060273" "02466" "00060274" "02466" "00060279" "00000" "00080020" "05103" "00080030" "05103" "00080032" "05103" "00080048" "05103" "00117282" "05103" "00117283" "05103" "00117284" "05103" "00117285" "05103" "00117286" "05103" "00117287" "05103" "00117288" "05103" "00117289" "05103" "00117290" "05103" "00117291" "05103" "00117292" "05103" "00173910" "02466" "00228149" "05400" "00275926" "05103" "00275927" "05103" "00275928" "05103" "00275929" "05103" "00275930" "05103" "00275931" "05103" "00275932" "05103" "00291213" "00198" "00291214" "00198" "00291215" "00198" "00295947" "05103" "00295953" "05103" "00314777" "05086" "00327074" "00350" "00327075" "00350" "00327076" "00350" "00327077" "00350" "00384626" "00198" "00397400" "05086" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00350, 00531, 02466, 05086, 05103, 05400 ## Count = 33 "{{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}}" "0000046757" "02466" "00060269" "01542" "Familial, autosomal recessive" "" "Congenital, mild-moderate NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046758" "02466" "00060271" "01542" "Familial, autosomal recessive" "" "Congenital, mild-moderate NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046760" "02466" "00060273" "01542" "Familial, autosomal recessive" "" "Congenital, moderate NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000046761" "02466" "00060274" "01542" "Familial, autosomal recessive" "" "Congenital, mild-moderate NSHL" "" "" "" "" "" "" "" "" "" "" "" "0000061071" "05103" "00080020" "01740" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061072" "05103" "00080030" "01740" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061073" "05103" "00080032" "01740" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000061074" "05103" "00080048" "01740" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000092529" "05103" "00117282" "00110" "Isolated (sporadic)" "09y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092530" "05103" "00117283" "00110" "Isolated (sporadic)" "11y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092531" "05103" "00117284" "00110" "Isolated (sporadic)" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092532" "05103" "00117285" "00110" "Isolated (sporadic)" "12y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092533" "05103" "00117286" "00110" "Isolated (sporadic)" "05y" "" "" "" "" "" "" "" "" "" "" "" "" "0000092534" "05103" "00117287" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092535" "05103" "00117288" "00110" "Isolated (sporadic)" "03y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092536" "05103" "00117289" "00110" "Isolated (sporadic)" "25y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092537" "05103" "00117290" "00110" "Isolated (sporadic)" "01y" "" "00y" "" "" "" "" "" "" "" "" "" "" "0000092538" "05103" "00117291" "00110" "Familial, autosomal recessive" "13y" "" "<10y" "" "" "" "" "" "" "" "" "" "" "0000092539" "05103" "00117292" "00110" "Isolated (sporadic)" "23y" "" ">10y" "" "" "" "" "" "" "" "" "" "" "0000138765" "02466" "00173910" "00048" "Familial, autosomal recessive" "14y" "" "11y" "" "" "" "" "" "" "" "" "" "" "0000172065" "05400" "00228149" "00006" "Familial, autosomal recessive" "" "congenital bilateral profound sensorineural hearing loss" "" "" "" "" "" "" "" "" "DFNB-16" "hearing loss" "" "0000210525" "05103" "00275926" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210526" "05103" "00275927" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210528" "05103" "00275928" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210529" "05103" "00275929" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210530" "05103" "00275930" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210531" "05103" "00275931" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000210532" "05103" "00275932" "03557" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000223423" "05103" "00295947" "03607" "Familial, autosomal recessive" "" "Mild degree hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000223429" "05103" "00295953" "03607" "Familial, autosomal recessive" "" "Mild hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000238573" "05086" "00314777" "00006" "Familial, autosomal recessive" "" "see paper; hearing loss , ..." "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000278416" "00198" "00384626" "00000" "Familial, X-linked" "" "Retinitis pigmentosa (XL) and diabetes insipidus (XL) and hearing loss (AR)" "" "" "" "" "" "" "" "" "Mixed" "Syndromic retinitis pigmentosa" "" "0000290538" "05086" "00397400" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "non-syndromic hearing loss" "" ## Screenings ## Do not remove or alter this header ## ## Count = 45 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000059112" "00059140" "1" "01551" "01551" "2016-02-29 09:43:34" "00006" "2016-04-30 16:23:12" "MAQ;SEQ;SEQ-NG-I" "DNA" "" "" "0000059146" "00059166" "1" "01551" "01551" "2016-02-29 12:46:22" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000060256" "00060269" "1" "01542" "01542" "2016-03-23 12:16:49" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060257" "00060271" "1" "01542" "01542" "2016-03-23 13:00:43" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060260" "00060273" "1" "01542" "01542" "2016-03-23 13:24:26" "" "" "arrayCGH" "DNA" "blood" "" "0000060261" "00060274" "1" "01542" "01542" "2016-03-23 13:30:17" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060262" "00060274" "1" "01542" "01542" "2016-03-23 13:50:12" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000060268" "00060279" "1" "00006" "00006" "2016-03-25 10:34:55" "" "" "SEQ" "DNA" "" "" "0000064760" "00059188" "1" "00006" "00006" "2016-04-30 16:03:56" "" "" "MAQ" "DNA" "" "" "0000080099" "00080020" "1" "01740" "01740" "2016-09-01 12:16:26" "" "" "SEQ-NG" "DNA" "" "" "0000080109" "00080030" "1" "01740" "01740" "2016-09-01 12:58:19" "" "" "SEQ-NG" "DNA" "" "" "0000080111" "00080032" "1" "01740" "01740" "2016-09-01 13:00:50" "" "" "SEQ-NG" "DNA" "" "" "0000080127" "00080048" "1" "01740" "01740" "2016-09-01 13:56:53" "" "" "SEQ-NG" "DNA" "" "" "0000117750" "00117282" "1" "00110" "00110" "2017-08-17 12:03:37" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117751" "00117283" "1" "00110" "00110" "2017-08-17 12:11:14" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117752" "00117284" "1" "00110" "00110" "2017-08-17 12:15:30" "" "" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000117753" "00117285" "1" "00110" "00110" "2017-08-17 12:20:34" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117754" "00117286" "1" "00110" "00110" "2017-08-17 12:24:24" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117755" "00117287" "1" "00110" "00110" "2017-08-17 12:31:05" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117756" "00117288" "1" "00110" "00110" "2017-08-17 12:34:47" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117757" "00117289" "1" "00110" "00110" "2017-08-17 12:38:00" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117758" "00117290" "1" "00110" "00110" "2017-08-17 12:42:30" "00006" "2020-09-25 08:53:39" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "gene panel, Quantitative Multiplex PCR of Short Fluorescent fragments" "0000117759" "00117291" "1" "00110" "00110" "2017-08-17 14:31:35" "00110" "2017-08-17 14:42:29" "SEQ;SEQ-NG-I" "DNA" "" "gene panel" "0000117760" "00117292" "1" "00110" "00110" "2017-08-17 14:38:32" "00006" "2020-09-25 08:52:33" "QMPSF;SEQ;SEQ-NG-I" "DNA" "" "Quantitative Multiplex PCR of Short Fluorescent fragments" "0000174800" "00173910" "1" "00048" "00048" "2018-08-06 11:41:28" "00048" "2018-08-06 13:35:35" "arrayCGH;SEQ-NG" "DNA" "" "" "0000229236" "00228149" "1" "00006" "00006" "2019-03-18 09:13:32" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000277079" "00275926" "1" "03557" "03557" "2020-01-21 08:01:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000277080" "00275927" "1" "03557" "03557" "2020-01-21 08:15:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000277081" "00275928" "1" "03557" "03557" "2020-01-21 08:21:24" "" "" "SEQ-NG-I" "DNA" "" "" "0000277082" "00275929" "1" "03557" "03557" "2020-01-21 08:27:31" "" "" "SEQ-NG-I" "DNA" "" "" "0000277083" "00275930" "1" "03557" "03557" "2020-01-21 08:33:07" "" "" "SEQ-NG-I" "DNA" "" "" "0000277084" "00275931" "1" "03557" "03557" "2020-01-21 08:45:52" "" "" "SEQ-NG-I" "DNA" "" "" "0000277085" "00275932" "1" "03557" "03557" "2020-01-21 08:50:17" "" "" "SEQ-NG-I" "DNA" "" "" "0000292381" "00291213" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292382" "00291214" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000292383" "00291215" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000297119" "00295947" "1" "03607" "03607" "2020-03-30 13:38:31" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000297125" "00295953" "1" "03607" "03607" "2020-03-30 13:55:35" "" "" "SEQ-NG-I" "DNA" "whole blood" "WES" "0000315951" "00314777" "1" "00006" "00006" "2020-10-18 12:29:15" "" "" "SEQ;SEQ-NG" "DNA" "" "180-gene panel" "0000328288" "00327074" "1" "03611" "03611" "2021-01-20 04:00:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000328289" "00327075" "1" "03611" "03611" "2021-01-20 04:02:20" "" "" "SEQ-NG-I" "DNA" "" "" "0000328290" "00327076" "1" "03611" "03611" "2021-01-20 04:03:58" "" "" "SEQ-NG-I" "DNA" "" "" "0000328291" "00327077" "1" "03611" "03611" "2021-01-20 04:05:33" "" "" "SEQ-NG-I" "DNA" "" "" "0000385854" "00384626" "1" "00000" "03840" "2021-10-04 12:47:36" "" "" "arraySNP;SEQ" "DNA" "blood" "" "0000398640" "00397400" "1" "00006" "00006" "2021-12-20 22:00:21" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{geneid}}" "0000059112" "STRC" "0000059146" "STRC" "0000060268" "STRC" "0000064760" "STRC" "0000117750" "CABP2" "0000117750" "STRC" "0000117751" "STRC" "0000117752" "STRC" "0000117753" "STRC" "0000117754" "STRC" "0000117755" "GJB2" "0000117755" "STRC" "0000117756" "STRC" "0000117757" "STRC" "0000117758" "EPS8L2" "0000117758" "STRC" "0000117759" "TMPRSS3" "0000117760" "STRC" "0000117760" "TMPRSS3" "0000229236" "STRC" "0000277079" "STRC" "0000277080" "STRC" "0000277081" "STRC" "0000277082" "STRC" "0000277083" "STRC" "0000277084" "STRC" "0000277085" "STRC" "0000297119" "STRC" "0000297125" "STRC" "0000315951" "STRC" "0000385854" "RPGR" "0000398640" "STRC" ## 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 = 159 "{{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}}" "0000089909" "1" "90" "15" "43895475" "43895475" "del" "3.65601E-5" "01551" "STRC_000005" "g.43895475del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.43603277del" "" "pathogenic" "" "0000089956" "0" "30" "15" "43893173" "43893173" "subst" "7.0084E-5" "01551" "STRC_000004" "g.43893173G>A" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.43600975G>A" "" "likely benign" "" "0000089957" "0" "30" "15" "43895586" "43895586" "subst" "0.000950903" "01551" "STRC_000006" "g.43895586C>T" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "" "Germline" "" "" "0" "" "" "g.43603388C>T" "" "likely benign" "" "0000091256" "21" "90" "15" "43896606" "43896606" "subst" "0.000137581" "01542" "STRC_000001" "g.43896606G>C" "2/250 cases (heterozygous)" "{PMID:Francey 2012:22147502}, {DOI:Francey 2012:10.1002/ajmg.a.34391}" "" "" "found 1/182 hearing controls" "Germline" "yes" "" "0" "" "" "g.43604408G>C" "" "pathogenic" "" "0000091258" "10" "90" "15" "43891869" "43910920" "" "0" "01542" "STRC_000002" "g.(43810000_43891869)_(43910920_43991000)del" "" "{PMID:Francey 2012:22147502}, {DOI:Francey 2012:10.1002/ajmg.a.34391}" "" "whole gene deletion" "deletion of ~0.1Mb" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000091259" "21" "90" "15" "43896606" "43896606" "subst" "0.000137581" "01542" "STRC_000001" "g.43896606G>C" "1/250 cases (heterozygous)" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.43604408G>C" "" "pathogenic" "" "0000091260" "3" "90" "15" "43891870" "43910920" "" "0" "01542" "STRC_000008" "g.(?_43891870)_(43910920_?)del" "" "PMID:22147502" "" "1_5515del" "~0.1Mb deletion" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000091261" "1" "90" "15" "43896606" "43896606" "subst" "0.000137581" "01542" "STRC_000001" "g.43896606G>C" "2/250 heterozygous unrelated deaf" "PMID:22147502" "" "" "1/182 controls" "Germline" "yes" "" "0" "" "" "g.43604408G>C" "" "pathogenic" "" "0000091262" "11" "90" "15" "43891869" "43910920" "" "0" "01542" "STRC_000002" "g.(43810000_43891869)_(43910920_43991000)del" "" "" "" "whole gene deletion" "deletion of ~0.1Mb" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000091263" "2" "90" "15" "43896880" "43896880" "subst" "4.0776E-6" "01542" "STRC_000007" "g.43896880C>T" "" "" "" "" "Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000091273" "1" "90" "15" "43896606" "43896606" "subst" "0.000137581" "00006" "STRC_000001" "g.43896606G>C" "1/182 controls" "{PMID:Francey 2012:22147502}, {DOI:Francey 2012:10.1002/ajmg.a.34391}" "" "" "" "Germline" "" "" "0" "" "" "g.43604408G>C" "" "pathogenic" "" "0000096181" "1" "10" "15" "43891869" "43910920" "dup" "0" "00006" "STRC_000003" "g.43891869_43910920dup" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "STRC_000000" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000096182" "2" "90" "15" "43891869" "43910920" "del" "0" "00006" "STRC_000002" "g.43891869_43910920del" "" "{PMID:Sommen 2016:27068579}, {DOI:Sommen 2016:10.1002/humu.22999}" "" "" "Variant Error [EMISMATCH/EUNCERTAIN]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000129861" "3" "70" "15" "43891870" "43910920" "" "0" "01740" "STRC_000008" "g.(?_43891870)_(43910920_?)del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "1_5328del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000129863" "3" "70" "15" "43891761" "43910998" "del" "0" "01740" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "del gene" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "likely pathogenic" "" "0000129865" "3" "70" "15" "43891870" "43910920" "" "0" "01740" "STRC_000008" "g.(?_43891870)_(43910920_?)del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "1_5328del" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000129867" "3" "70" "15" "43891870" "43910920" "" "0" "01740" "STRC_000008" "g.(?_43891870)_(43910920_?)del" "" "{PMID:Zazo Seco 2017:28000701}, {DOI:Zazo Seco 2017:10.1038/ejhg.2016.182}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000188752" "0" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188753" "0" "90" "15" "43903737" "43903737" "subst" "0" "00110" "STRC_000010" "g.43903737T>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "effect on splicing predicted from minigene splicing assay" "Germline/De novo (untested)" "" "" "0" "" "" "g.43611539T>A" "" "pathogenic" "" "0000188755" "0" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188756" "0" "70" "15" "43903753" "43903753" "subst" "0" "00110" "STRC_000009" "g.43903753C>T" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "effect on splicing predicted from minigene splicing assay" "Germline/De novo (untested)" "" "" "0" "" "" "g.43611555C>T" "" "likely pathogenic" "" "0000188757" "11" "70" "15" "43892272" "43892272" "subst" "0" "00110" "STRC_000013" "g.43892272T>C" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43600074T>C" "" "likely pathogenic" "" "0000188758" "21" "70" "15" "43895437" "43895441" "del" "0" "00110" "STRC_000012" "g.43895437_43895441del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline" "yes" "" "0" "" "" "g.43603239_43603243del" "" "likely pathogenic" "" "0000188759" "3" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188760" "0" "90" "15" "43891761" "43900402" "" "0" "00110" "STRC_000016" "g.(?_43891761)_(43900402_43901473)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(443608204_43609275)del" "" "pathogenic" "" "0000188761" "0" "90" "15" "43893077" "43893077" "subst" "1.62591E-5" "00110" "STRC_000014" "g.43893077C>A" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "rs769443188" "0" "" "" "g.43600879C>A" "" "pathogenic" "" "0000188762" "3" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188764" "3" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188765" "0" "70" "15" "43895562" "43895562" "subst" "0" "00110" "STRC_000011" "g.43895562A>G" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.43603364A>G" "" "likely pathogenic" "" "0000188766" "0" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188767" "3" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188770" "0" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000188773" "0" "90" "15" "43891761" "43910998" "" "0" "00110" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Baux 2017:29196752}, {DOI:Baux 2017:10.1038/s41598-017-16846-9}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic" "" "0000248768" "0" "10" "15" "43910440" "43910440" "subst" "0.347484" "02325" "STRC_000030" "g.43910440A>G" "" "" "" "STRC(NM_153700.2):c.179T>C (p.F60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43618242A>G" "" "benign" "" "0000249195" "0" "10" "15" "43892893" "43892893" "subst" "0.1519" "02325" "STRC_000023" "g.43892893A>G" "" "" "" "STRC(NM_153700.2):c.4845-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600695A>G" "" "benign" "" "0000255121" "0" "30" "15" "43892256" "43892256" "subst" "8.13378E-6" "01943" "STRC_000017" "g.43892256A>G" "" "" "" "STRC(NM_153700.2):c.5141T>C (p.V1714A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600058A>G" "" "likely benign" "" "0000311598" "0" "10" "15" "43897499" "43897499" "subst" "0.160024" "02325" "STRC_000027" "g.43897499T>C" "" "" "" "STRC(NM_153700.2):c.3893A>G (p.H1298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43605301T>C" "" "benign" "" "0000311599" "0" "10" "15" "43893072" "43893072" "subst" "0.192614" "02325" "STRC_000024" "g.43893072G>A" "" "" "" "STRC(NM_153700.2):c.4842C>T (p.F1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600874G>A" "" "benign" "" "0000311600" "0" "10" "15" "43892847" "43892847" "subst" "0.158475" "02325" "STRC_000022" "g.43892847G>C" "" "" "" "STRC(NM_153700.2):c.4878C>G (p.L1626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600649G>C" "" "benign" "" "0000315883" "0" "50" "15" "43895558" "43895558" "subst" "0" "01943" "STRC_000026" "g.43895558G>C" "" "" "" "STRC(NM_153700.2):c.4427C>G (p.S1476C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43603360G>C" "" "VUS" "" "0000315884" "0" "30" "15" "43893708" "43893708" "subst" "0" "01943" "STRC_000025" "g.43893708C>T" "" "" "" "STRC(NM_153700.2):c.4587G>A (p.L1529=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43601510C>T" "" "likely benign" "" "0000315885" "0" "50" "15" "43892822" "43892822" "subst" "0" "01943" "STRC_000021" "g.43892822C>A" "" "" "" "STRC(NM_153700.2):c.4903G>T (p.V1635F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600624C>A" "" "VUS" "" "0000315887" "0" "70" "15" "43892808" "43892808" "subst" "0.00117944" "01943" "STRC_000020" "g.43892808T>G" "" "" "" "STRC(NM_153700.2):c.4917A>C (p.L1639=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600610T>G" "" "likely pathogenic" "" "0000315888" "0" "70" "15" "43892807" "43892807" "subst" "0.00117529" "01943" "STRC_000018" "g.43892807G>A" "" "" "" "STRC(NM_153700.2):c.4918C>T (p.L1640F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600609G>A" "" "likely pathogenic" "" "0000315889" "0" "10" "15" "43910121" "43910121" "subst" "0.00564329" "01943" "STRC_000029" "g.43910121C>T" "" "" "" "STRC(NM_153700.2):c.498G>A (p.P166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43617923C>T" "" "benign" "" "0000338104" "0" "10" "15" "43892893" "43892893" "subst" "0.1519" "02327" "STRC_000023" "g.43892893A>G" "" "" "" "STRC(NM_153700.2):c.4845-13T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600695A>G" "" "benign" "" "0000338105" "0" "90" "15" "43904038" "43904038" "subst" "0" "02327" "STRC_000039" "g.43904038A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43611840A>C" "" "pathogenic" "" "0000340084" "0" "10" "15" "43892847" "43892847" "subst" "0.158475" "02327" "STRC_000022" "g.43892847G>C" "" "" "" "STRC(NM_153700.2):c.4878C>G (p.L1626=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600649G>C" "" "benign" "" "0000340085" "0" "10" "15" "43900153" "43900153" "subst" "0.146996" "02327" "STRC_000037" "g.43900153C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43607955C>T" "" "benign" "" "0000340086" "0" "10" "15" "43903129" "43903129" "subst" "0" "02327" "STRC_000038" "g.43903129A>G" "" "" "" "STRC(NM_153700.2):c.3360T>C (p.C1120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43610931A>G" "" "benign" "" "0000340087" "0" "30" "15" "43907748" "43907748" "subst" "0" "02327" "STRC_000042" "g.43907748T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43615550T>C" "" "likely benign" "" "0000340863" "0" "30" "15" "43906620" "43906620" "subst" "0" "02327" "STRC_000041" "g.43906620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43614422G>A" "" "likely benign" "" "0000341895" "0" "70" "15" "43896606" "43896606" "subst" "0.000137581" "02327" "STRC_000001" "g.43896606G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604408G>C" "" "likely pathogenic" "" "0000341910" "0" "50" "15" "43896322" "43896322" "subst" "2.53177E-5" "02327" "STRC_000035" "g.43896322C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604124C>T" "" "VUS" "" "0000341944" "0" "90" "15" "43895583" "43895583" "subst" "9.3464E-5" "02327" "STRC_000034" "g.43895583G>A" "" "" "" "STRC(NM_153700.2):c.4402C>T (p.R1468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43603385G>A" "" "pathogenic" "" "0000341967" "0" "10" "15" "43893733" "43893733" "subst" "0.0464008" "02327" "STRC_000033" "g.43893733C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43601535C>T" "" "benign" "" "0000342076" "0" "90" "15" "43892209" "43892209" "subst" "2.09721E-5" "02327" "STRC_000031" "g.43892209G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600011G>A" "" "pathogenic" "" "0000343476" "0" "50" "15" "43905038" "43905038" "subst" "9.65065E-5" "02327" "STRC_000040" "g.43905038G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43612840G>A" "" "VUS" "" "0000344876" "0" "90" "15" "43908260" "43908260" "subst" "0" "02327" "STRC_000045" "g.43908260G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43616062G>A" "" "pathogenic" "" "0000346369" "0" "10" "15" "43897499" "43897499" "subst" "0.160024" "02327" "STRC_000027" "g.43897499T>C" "" "" "" "STRC(NM_153700.2):c.3893A>G (p.H1298R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43605301T>C" "" "benign" "" "0000347195" "0" "70" "15" "43908295" "43908295" "subst" "0" "02327" "STRC_000046" "g.43908295A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43616097A>G" "" "likely pathogenic" "" "0000348078" "0" "10" "15" "43910440" "43910440" "subst" "0.347484" "02327" "STRC_000030" "g.43910440A>G" "" "" "" "STRC(NM_153700.2):c.179T>C (p.F60S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43618242A>G" "" "benign" "" "0000349315" "0" "70" "15" "43892272" "43892272" "subst" "0" "02327" "STRC_000013" "g.43892272T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43600074T>C" "" "likely pathogenic" "" "0000350133" "0" "50" "15" "43908133" "43908133" "subst" "0" "02327" "STRC_000044" "g.43908133T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43615935T>C" "" "VUS" "" "0000350299" "0" "30" "15" "43895586" "43895586" "subst" "0.000950903" "02327" "STRC_000006" "g.43895586C>T" "" "" "" "STRC(NM_153700.2):c.4399G>A (p.V1467I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43603388C>T" "" "likely benign" "" "0000350783" "0" "50" "15" "43896559" "43896559" "subst" "1.2095E-5" "02327" "STRC_000036" "g.43896559C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.43604361C>T" "" "VUS" "" "0000394669" "21" "90" "15" "43896948" "43896948" "subst" "0.000187188" "00048" "STRC_000048" "g.43896948G>A" "" "" "" "g.113511C>T" "compound heterozygous with large deletion" "Germline" "yes" "rs144948296" "0" "" "" "g.43604750G>A" "{CV-RCV:000516500.1}" "pathogenic" "" "0000394670" "11" "90" "15" "43984930" "438868571" "del" "0" "00048" "STRC_000049" "g.(438868571_43888004)_(43984930_43992627)del" "" "" "" "" "compound heterozygous 97kb deletion spanning the STRC, CKMT1B and CATSPER2 genes" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000470383" "3" "90" "15" "43895475" "43895475" "del" "3.65601E-5" "00006" "STRC_000005" "g.43895475del" "" "{PMID:Mahfood 2019:30758234}" "" "4510delG" "" "Germline" "" "" "0" "" "" "g.43603277del" "" "pathogenic (recessive)" "" "0000554315" "0" "30" "15" "43892197" "43892197" "subst" "0.00095572" "01943" "STRC_000066" "g.43892197A>G" "" "" "" "STRC(NM_153700.2):c.5200T>C (p.W1734R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43599999A>G" "" "likely benign" "" "0000554317" "0" "90" "15" "43892809" "43892810" "dup" "0" "01943" "STRC_000067" "g.43892809_43892810dup" "" "" "" "STRC(NM_153700.2):c.4915_4916dupCT (p.L1640Yfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600611_43600612dup" "" "pathogenic" "" "0000554318" "0" "50" "15" "43892842" "43892842" "subst" "0" "02327" "STRC_000068" "g.43892842C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600644C>T" "" "VUS" "" "0000554319" "0" "30" "15" "43892862" "43892862" "subst" "0.00269091" "01943" "STRC_000069" "g.43892862G>C" "" "" "" "STRC(NM_153700.2):c.4863C>G (p.L1621=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600664G>C" "" "likely benign" "" "0000554320" "0" "10" "15" "43893072" "43893072" "subst" "0.192614" "02327" "STRC_000024" "g.43893072G>A" "" "" "" "STRC(NM_153700.2):c.4842C>T (p.F1614=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43600874G>A" "" "benign" "" "0000554321" "0" "30" "15" "43893732" "43893732" "subst" "0.000446875" "01943" "STRC_000070" "g.43893732C>T" "" "" "" "STRC(NM_153700.2):c.4563G>A (p.R1521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43601534C>T" "" "likely benign" "" "0000554322" "0" "50" "15" "43895553" "43895553" "subst" "0.000105606" "01943" "STRC_000071" "g.43895553T>G" "" "" "" "STRC(NM_153700.2):c.4432A>C (p.T1478P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43603355T>G" "" "VUS" "" "0000554323" "0" "30" "15" "43896309" "43896309" "subst" "0" "01943" "STRC_000072" "g.43896309C>T" "" "" "" "STRC(NM_153700.2):c.4260G>A (p.K1420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43604111C>T" "" "likely benign" "" "0000554324" "0" "10" "15" "43896840" "43896840" "subst" "0.00105122" "01943" "STRC_000073" "g.43896840G>A" "" "" "" "STRC(NM_153700.2):c.4127+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43604642G>A" "" "benign" "" "0000554325" "0" "70" "15" "43900061" "43900061" "subst" "9.90998E-5" "02327" "STRC_000074" "g.43900061G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43607863G>A" "" "likely pathogenic" "" "0000554326" "0" "90" "15" "43900358" "43900358" "subst" "8.52718E-6" "02327" "STRC_000075" "g.43900358G>A" "" "" "" "STRC(NM_153700.2):c.3601C>T (p.Q1201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43608160G>A" "" "pathogenic" "" "0000554327" "0" "30" "15" "43901491" "43901491" "subst" "0.000832442" "01943" "STRC_000076" "g.43901491A>C" "" "" "" "STRC(NM_153700.2):c.3540T>G (p.L1180=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43609293A>C" "" "likely benign" "" "0000554328" "0" "30" "15" "43903129" "43903129" "subst" "0" "01943" "STRC_000038" "g.43903129A>G" "" "" "" "STRC(NM_153700.2):c.3360T>C (p.C1120=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43610931A>G" "" "likely benign" "" "0000554329" "0" "30" "15" "43903187" "43903187" "dup" "0" "01943" "STRC_000077" "g.43903187dup" "" "" "" "STRC(NM_153700.2):c.3307-5dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43610989dup" "" "likely benign" "" "0000554330" "0" "90" "15" "43903435" "43903435" "subst" "0" "02327" "STRC_000078" "g.43903435G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43611237G>A" "" "pathogenic" "" "0000554331" "0" "70" "15" "43904577" "43904577" "subst" "0" "02327" "STRC_000079" "g.43904577G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43612379G>A" "" "likely pathogenic" "" "0000554332" "0" "50" "15" "43906154" "43906154" "subst" "0" "02327" "STRC_000080" "g.43906154G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43613956G>C" "" "VUS" "" "0000554333" "0" "70" "15" "43908399" "43908399" "subst" "0" "02327" "STRC_000081" "g.43908399G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43616201G>C" "" "likely pathogenic" "" "0000554334" "0" "50" "15" "43908845" "43908845" "subst" "0" "02327" "STRC_000082" "g.43908845A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43616647A>G" "" "VUS" "" "0000554335" "0" "30" "15" "43909941" "43909941" "subst" "0" "01943" "STRC_000083" "g.43909941T>A" "" "" "" "STRC(NM_153700.2):c.678A>T (p.T226=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43617743T>A" "" "likely benign" "" "0000554336" "0" "30" "15" "43909948" "43909948" "subst" "0" "01943" "STRC_000084" "g.43909948G>A" "" "" "" "STRC(NM_153700.2):c.671C>T (p.T224I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43617750G>A" "" "likely benign" "" "0000554337" "0" "50" "15" "43910201" "43910201" "subst" "2.48045E-5" "01943" "STRC_000085" "g.43910201G>T" "" "" "" "STRC(NM_153700.2):c.418C>A (p.L140I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618003G>T" "" "VUS" "" "0000554338" "0" "30" "15" "43910210" "43910210" "subst" "0" "01943" "STRC_000086" "g.43910210G>C" "" "" "" "STRC(NM_153700.2):c.409C>G (p.L137V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618012G>C" "" "likely benign" "" "0000554339" "0" "10" "15" "43910286" "43910286" "subst" "0" "01943" "STRC_000087" "g.43910286C>A" "" "" "" "STRC(NM_153700.2):c.333G>T (p.G111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618088C>A" "" "benign" "" "0000554340" "0" "30" "15" "43910520" "43910520" "subst" "0.00319127" "01943" "STRC_000088" "g.43910520G>A" "" "" "" "STRC(NM_153700.2):c.99C>T (p.D33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618322G>A" "" "likely benign" "" "0000615312" "0" "50" "15" "43892197" "43892197" "subst" "0.00095572" "02327" "STRC_000066" "g.43892197A>G" "" "" "" "STRC(NM_153700.2):c.5200T>C (p.W1734R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43599999A>G" "" "VUS" "" "0000615313" "0" "90" "15" "43895561" "43895561" "subst" "0" "02327" "STRC_000089" "g.43895561C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43603363C>T" "" "pathogenic" "" "0000615314" "0" "90" "15" "43906176" "43906176" "subst" "0" "02327" "STRC_000091" "g.43906176G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43613978G>A" "" "pathogenic" "" "0000615315" "0" "50" "15" "43908184" "43908184" "subst" "0" "02327" "STRC_000092" "g.43908184C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43615986C>G" "" "VUS" "" "0000615316" "0" "50" "15" "43908298" "43908298" "subst" "0" "02327" "STRC_000093" "g.43908298C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43616100C>G" "" "VUS" "" "0000615317" "0" "50" "15" "43910299" "43910301" "dup" "0" "01943" "STRC_000094" "g.43910299_43910301dup" "" "" "" "STRC(NM_153700.2):c.319_321dupGAG (p.E107dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43618101_43618103dup" "" "VUS" "" "0000623226" "0" "90" "15" "43900060" "43900060" "subst" "1.23976E-5" "01943" "STRC_000090" "g.43900060C>T" "" "" "" "STRC(NM_153700.2):c.3794+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.43607862C>T" "" "pathogenic" "" "0000631810" "1" "99" "15" "43910036" "43910036" "subst" "4.28493E-6" "03557" "STRC_000051" "g.43910036G>A" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PVS1, PM2, PM3, PP1" "Germline" "" "" "0" "" "" "g.43617838G>A" "" "pathogenic (recessive)" "ACMG" "0000631811" "1" "70" "15" "43896340" "43896343" "delins" "0" "03557" "STRC_000053" "g.43896340_43896343delinsG" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PVS1_S, PM2, PM3_S, PP1" "Germline" "" "" "0" "" "" "g.43604142_43604145delinsG" "" "pathogenic (recessive)" "ACMG" "0000631812" "1" "70" "15" "43893098" "43893098" "dup" "0" "03557" "STRC_000054" "g.43893098dup" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "4816_4817insC" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.43600900dup" "" "pathogenic (recessive)" "ACMG" "0000631813" "1" "90" "15" "43892257" "43892258" "del" "0" "03557" "STRC_000052" "g.43892257_43892258del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PVS1, PM2, PM3" "Germline" "" "" "0" "" "" "g.43600059_43600060del" "" "pathogenic (recessive)" "ACMG" "0000631814" "1" "70" "15" "43908806" "43908806" "subst" "0" "03557" "STRC_000055" "g.43908806G>A" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PS2, PM2" "Germline" "" "" "0" "" "" "g.43616608G>A" "" "likely pathogenic" "ACMG" "0000631815" "1" "50" "15" "43905296" "43905296" "subst" "0" "03557" "STRC_000056" "g.43905296G>A" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PM2_P, PM3" "Germline" "" "" "0" "" "" "g.43613098G>A" "" "VUS" "ACMG" "0000631816" "1" "50" "15" "43893743" "43893743" "subst" "0" "03557" "STRC_000057" "g.43893743C>T" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PM2, PM3" "Germline" "" "" "0" "" "" "g.43601545C>T" "" "VUS" "ACMG" "0000649070" "1" "90" "15" "43893593" "43893593" "subst" "4.06184E-5" "03575" "STRC_000058" "g.43893593C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs199839039}" "Germline" "" "rs199839039" "0" "" "" "g.43601395C>T" "" "pathogenic" "" "0000649071" "1" "10" "15" "43893734" "43893734" "subst" "0.0050365" "03575" "STRC_000059" "g.43893734G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs138763871}" "Germline" "" "rs138763871" "0" "" "" "g.43601536G>A" "" "benign" "" "0000649072" "1" "90" "15" "43895583" "43895583" "subst" "9.3464E-5" "03575" "STRC_000034" "g.43895583G>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs377480477}" "Germline" "" "rs377480477" "0" "" "" "g.43603385G>A" "" "pathogenic" "" "0000659735" "0" "70" "15" "43893743" "43893743" "subst" "0" "03607" "STRC_000057" "g.43893743C>T" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.43601545C>T" "" "VUS" "" "0000659741" "1" "90" "15" "43896918" "43896918" "subst" "6.10098E-5" "03607" "STRC_000007" "g.43896918G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.43604720G>A" "" "pathogenic" "" "0000659742" "2" "90" "15" "43910036" "43910036" "subst" "4.28493E-6" "03607" "STRC_000051" "g.43910036G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.43617838G>A" "" "likely pathogenic" "" "0000667170" "2" "90" "15" "43891761" "43910998" "del" "0" "00006" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "CNV del" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic (recessive)" "" "0000667171" "2" "90" "15" "43891761" "43910998" "del" "0" "00006" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "CNV del" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic (recessive)" "" "0000667172" "2" "90" "15" "43891761" "43910998" "del" "0" "00006" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "CNV del" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic (recessive)" "" "0000667173" "2" "90" "15" "43891761" "43910998" "del" "0" "00006" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic (recessive)" "" "0000667174" "2" "90" "15" "43896340" "43896343" "delins" "0" "00006" "STRC_000053" "g.43896340_43896343delinsG" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "" "ACMG PVS1_S, PM2, PM3_S, PP1" "Germline" "" "" "0" "" "" "g.43604142_43604145delinsG" "" "pathogenic (recessive)" "ACMG" "0000667175" "2" "90" "15" "43891761" "43910998" "del" "0" "00006" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "CNV del" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic (recessive)" "" "0000667176" "2" "90" "15" "43891761" "43910998" "del" "0" "00006" "STRC_000015" "g.(?_43891761)_(43910998_?)del" "" "{PMID:Kim 2020:32203226}, {DOI:Kim 2020:10.1038/s41436-020-0774-9}" "" "CNV del" "" "Germline" "" "" "0" "" "" "g.(?_43599563)_(43618800_?)del" "" "pathogenic (recessive)" "" "0000680176" "0" "30" "15" "43910266" "43910266" "subst" "2.77081E-5" "01943" "STRC_000095" "g.43910266G>C" "" "" "" "STRC(NM_153700.2):c.353C>G (p.A118G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691796" "0" "30" "15" "43893734" "43893734" "subst" "0.0050365" "01943" "STRC_000059" "g.43893734G>A" "" "" "" "STRC(NM_153700.2):c.4561C>T (p.R1521W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691797" "0" "30" "15" "43900269" "43900269" "subst" "2.44284E-5" "01943" "STRC_000096" "g.43900269C>A" "" "" "" "STRC(NM_153700.2):c.3681+9G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698059" "3" "70" "15" "43896963" "43896963" "subst" "3.26677E-5" "00006" "STRC_000061" "g.43896963G>A" "" "{DOI:Kannan-Sundhari 2020:32991204}" "" "" "" "Germline" "" "" "0" "" "" "g.43604765G>A" "" "likely pathogenic (recessive)" "" "0000711843" "0" "50" "15" "43904707" "43904707" "subst" "0" "03779" "STRC_000062" "g.43904707C>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0000712234" "0" "90" "15" "43896340" "43896343" "del" "0" "03611" "STRC_000063" "g.43896340_43896343del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PVS1_S, PM2_P, PM3_S, PP1" "Germline/De novo (untested)" "" "" "0" "" "" "g.43604142_43604145del" "" "pathogenic (recessive)" "ACMG" "0000712235" "0" "90" "15" "43892257" "43892258" "del" "0" "03611" "STRC_000064" "g.43892257_43892258del" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "5141_5142delTG" "ACMG PVS1, PM2, PM3_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.43600059_43600060del" "" "pathogenic (recessive)" "ACMG" "0000712236" "0" "90" "15" "43893098" "43893098" "dup" "0" "03611" "STRC_000065" "g.43893098dup" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "4816dupC" "ACMG PVS1, PM2_P, PM3_P" "Germline/De novo (untested)" "" "" "0" "" "" "g.43600900dup" "" "pathogenic (recessive)" "ACMG" "0000712237" "0" "90" "15" "43896918" "43896918" "subst" "0" "03611" "STRC_000007" "g.43896918C>T" "" "{PMID:Kim 2022:35864128}, {DOI:Kim 2022:10.1038/s41598-022-16661-x}" "" "" "ACMG PVS1, PM2_P, PM3_S" "Germline/De novo (untested)" "" "" "0" "" "" "g.43604720G>A" "" "pathogenic (recessive)" "ACMG" "0000725098" "0" "90" "15" "43893077" "43893077" "subst" "1.62591E-5" "01943" "STRC_000014" "g.43893077C>A" "" "" "" "STRC(NM_153700.2):c.4837G>T (p.E1613*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725099" "0" "90" "15" "43895583" "43895583" "subst" "9.3464E-5" "01943" "STRC_000034" "g.43895583G>A" "" "" "" "STRC(NM_153700.2):c.4402C>T (p.R1468*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725100" "0" "50" "15" "43896955" "43896955" "subst" "1.22332E-5" "01943" "STRC_000097" "g.43896955G>C" "" "" "" "STRC(NM_153700.2):c.4020C>G (p.I1340M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725101" "0" "50" "15" "43900145" "43900145" "subst" "0.000118109" "01943" "STRC_000098" "g.43900145C>T" "" "" "" "STRC(NM_153700.2):c.3710G>A (p.R1237Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725102" "0" "90" "15" "43902548" "43902548" "subst" "0" "02327" "STRC_000099" "g.43902548G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000725103" "0" "90" "15" "43908413" "43908413" "del" "0" "02327" "STRC_000100" "g.43908413del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806696" "0" "30" "15" "43897498" "43897498" "subst" "0" "01943" "STRC_000101" "g.43897498G>A" "" "" "" "STRC(NM_153700.2):c.3894C>T (p.H1298=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806697" "0" "50" "15" "43903434" "43903434" "subst" "0.000839585" "01943" "STRC_000102" "g.43903434C>T" "" "" "" "STRC(NM_153700.2):c.3218G>A (p.R1073Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806698" "0" "50" "15" "43910006" "43910006" "subst" "0" "01943" "STRC_000103" "g.43910006C>A" "" "" "" "STRC(NM_153700.2):c.613G>T (p.G205C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000813028" "3" "70" "15" "43891761" "43941039" "del" "0" "00000" "STRC_000060" "g.(?_43891761)_(43941039_?)del" "" "{PMID:Ehrenberg 2019:31814694}" "" "del STRC-CATSPER2" "homozygous deletion" "Germline" "yes" "" "0" "" "" "g.(?_43599563)_(43648841_?)del" "" "pathogenic (recessive)" "" "0000830856" "3" "70" "15" "43896918" "43896918" "subst" "6.10098E-5" "00006" "STRC_000007" "g.43896918G>A" "" "{PMID:Choi 2013:23990876}" "" "c.C4057T" "rs2614824" "Germline" "" "" "0" "" "" "g.43604720G>A" "" "likely pathogenic (recessive)" "" "0000854017" "0" "50" "15" "43893606" "43893606" "subst" "0" "02327" "STRC_000104" "g.43893606C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000854018" "0" "90" "15" "43900060" "43900060" "subst" "1.23976E-5" "02327" "STRC_000090" "g.43900060C>T" "" "" "" "STRC(NM_153700.2):c.3794+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854019" "0" "90" "15" "43900358" "43900358" "subst" "8.52718E-6" "01943" "STRC_000075" "g.43900358G>A" "" "" "" "STRC(NM_153700.2):c.3601C>T (p.Q1201*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854020" "0" "90" "15" "43906636" "43906639" "del" "0" "02327" "STRC_000107" "g.43906636_43906639del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000854021" "0" "50" "15" "43908311" "43908311" "subst" "0" "02327" "STRC_000108" "g.43908311A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863839" "0" "50" "15" "43893673" "43893673" "subst" "0.000219307" "02327" "STRC_000105" "g.43893673C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863840" "0" "30" "15" "43895586" "43895586" "subst" "0.000950903" "01943" "STRC_000006" "g.43895586C>T" "" "" "" "STRC(NM_153700.2):c.4399G>A (p.V1467I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863841" "0" "90" "15" "43906252" "43906252" "subst" "0" "02327" "STRC_000106" "g.43906252C>G" "" "" "" "STRC(NM_153700.2):c.2314-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892052" "0" "50" "15" "43903434" "43903434" "subst" "0.000839585" "02327" "STRC_000102" "g.43903434C>T" "" "" "" "STRC(NM_153700.2):c.3218G>A (p.R1073Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892053" "0" "50" "15" "43905270" "43905270" "subst" "0" "02327" "STRC_000109" "g.43905270C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000892054" "0" "90" "15" "43908620" "43908620" "subst" "0" "02327" "STRC_000110" "g.43908620G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892056" "0" "90" "15" "43909885" "43909885" "del" "0" "02327" "STRC_000112" "g.43909885del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000892057" "0" "10" "15" "43910286" "43910286" "subst" "0" "02327" "STRC_000087" "g.43910286C>A" "" "" "" "STRC(NM_153700.2):c.333G>T (p.G111=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000892058" "0" "30" "15" "43910517" "43910517" "subst" "0" "02327" "STRC_000113" "g.43910517A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925966" "0" "30" "15" "43908762" "43908762" "subst" "0" "02327" "STRC_000114" "g.43908762C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950348" "0" "50" "15" "43904993" "43904993" "subst" "0" "02327" "STRC_000115" "g.43904993G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981221" "0" "30" "15" "43932701" "43932701" "subst" "0.000831628" "01804" "CKMT1A_000002" "g.43932701A>G" "" "" "" "CATSPER2(NM_172095.4):c.389-7T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001040360" "0" "50" "15" "43906252" "43906252" "subst" "0" "01804" "STRC_000106" "g.43906252C>G" "" "" "" "STRC(NM_153700.2):c.2314-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes STRC ## Count = 159 "{{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}}" "0000089909" "00020502" "90" "4510" "0" "4510" "0" "c.4510del" "r.(?)" "p.(Glu1504Argfs*32)" "23" "0000089956" "00020502" "30" "4741" "0" "4741" "0" "c.4741C>T" "r.(?)" "p.(Arg1581Trp)" "25" "0000089957" "00020502" "30" "4399" "0" "4399" "0" "c.4399G>A" "r.(?)" "p.(Val1467Ile)" "23" "0000091256" "00020502" "90" "4171" "0" "4171" "0" "c.4171C>G" "r.(?)" "p.(Arg1391Gly)" "21" "0000091258" "00020502" "90" "1" "0" "5329" "0" "c.(?_1)_(*1_?)del" "r.0" "p.0" "_1_29_" "0000091259" "00020502" "90" "4171" "0" "4171" "0" "c.4171C>G" "r.(?)" "p.(Arg1391Gly)" "21" "0000091260" "00020502" "90" "1" "" "5328" "" "c.(?_1)_(5328_?)del" "r.0?" "p.0?" "_1_29_" "0000091261" "00020502" "90" "4171" "0" "4171" "0" "c.4171C>G" "r.(?)" "p.(Arg1391Gly)" "21" "0000091262" "00020502" "90" "1" "0" "5329" "0" "c.(?_1)_(*1_?)del" "r.0" "p.0" "_1_29_" "0000091263" "00020502" "90" "4057" "0" "4057" "0" "c.4057C>T" "r.(?)" "p.(Gln1353*)" "20" "0000091273" "00020502" "90" "4171" "0" "4171" "0" "c.4171C>G" "r.(?)" "p.(Arg1391Gly)" "21" "0000096181" "00020502" "10" "1" "0" "5329" "0" "c.(?_1)_(*1_?)dup" "r.(=)" "p.(=)" "_1_29_" "0000096182" "00020502" "90" "1" "0" "5329" "0" "c.(?_1)_(*1_?)del" "r.0?" "p.0?" "_1_29_" "0000129861" "00020502" "70" "1" "" "5328" "" "c.(?_1)_(5328_?)del" "r.0?" "p.0?" "_1_29_" "0000129863" "00020502" "70" "0" "0" "0" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000129865" "00020502" "70" "1" "" "5328" "" "c.(?_1)_(5328_?)del" "r.0?" "p.0?" "_1_29_" "0000129867" "00020502" "70" "1" "" "5328" "" "c.(?_1)_(5328_?)del" "r.0?" "p.0?" "_1_29_" "0000188752" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188753" "00020502" "90" "3100" "-2" "3100" "-2" "c.3100-2A>T" "r.(3100_3138del)" "p.(Ala1034_Asp1046del)" "11i" "0000188755" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188756" "00020502" "70" "3100" "-18" "3100" "-18" "c.3100-18G>A" "r.(3100_3138del)" "p.(Ala1034_Asp1046del)" "11i" "0000188757" "00020502" "70" "5125" "0" "5125" "0" "c.5125A>G" "r.(?)" "p.(Thr1709Ala)" "28" "0000188758" "00020502" "70" "4545" "2" "4545" "6" "c.4545+2_4545+6del" "r.spl?" "p.?" "23i" "0000188759" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188760" "00020502" "90" "3558" "-1" "5437" "0" "c.(3557+1_3558-1)_(*109_?)del" "r.?" "p.?" "16i_29_" "0000188761" "00020502" "90" "4837" "0" "4837" "0" "c.4837G>T" "r.(?)" "p.(Glu1613*)" "25" "0000188762" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188764" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188765" "00020502" "70" "4423" "0" "4423" "0" "c.4423T>C" "r.(?)" "p.(Trp1475Arg)" "23" "0000188766" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188767" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188770" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000188773" "00020502" "90" "-78" "0" "5437" "0" "c.-78_*109{0}" "r.0?" "p.0?" "_1_29_" "0000248768" "00020502" "10" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Phe60Ser)" "" "0000249195" "00020502" "10" "4845" "-13" "4845" "-13" "c.4845-13T>C" "r.(=)" "p.(=)" "" "0000255121" "00020502" "30" "5141" "0" "5141" "0" "c.5141T>C" "r.(?)" "p.(Val1714Ala)" "" "0000311598" "00020502" "10" "3893" "0" "3893" "0" "c.3893A>G" "r.(?)" "p.(His1298Arg)" "" "0000311599" "00020502" "10" "4842" "0" "4842" "0" "c.4842C>T" "r.(?)" "p.(Phe1614=)" "" "0000311600" "00020502" "10" "4878" "0" "4878" "0" "c.4878C>G" "r.(?)" "p.(Leu1626=)" "" "0000315883" "00020502" "50" "4427" "0" "4427" "0" "c.4427C>G" "r.(?)" "p.(Ser1476Cys)" "" "0000315884" "00020502" "30" "4587" "0" "4587" "0" "c.4587G>A" "r.(?)" "p.(Leu1529=)" "" "0000315885" "00020502" "50" "4903" "0" "4903" "0" "c.4903G>T" "r.(?)" "p.(Val1635Phe)" "" "0000315887" "00020502" "70" "4917" "0" "4917" "0" "c.4917A>C" "r.(?)" "p.(Leu1639=)" "" "0000315888" "00020502" "70" "4918" "0" "4918" "0" "c.4918C>T" "r.(?)" "p.(Leu1640Phe)" "" "0000315889" "00020502" "10" "498" "0" "498" "0" "c.498G>A" "r.(?)" "p.(Pro166=)" "" "0000338104" "00020502" "10" "4845" "-13" "4845" "-13" "c.4845-13T>C" "r.(=)" "p.(=)" "" "0000338105" "00020502" "90" "3099" "2" "3099" "2" "c.3099+2T>G" "r.spl?" "p.?" "" "0000340084" "00020502" "10" "4878" "0" "4878" "0" "c.4878C>G" "r.(?)" "p.(Leu1626=)" "" "0000340085" "00020502" "10" "3702" "0" "3702" "0" "c.3702G>A" "r.(?)" "p.(Glu1234=)" "" "0000340086" "00020502" "10" "3360" "0" "3360" "0" "c.3360T>C" "r.(?)" "p.(Cys1120=)" "" "0000340087" "00020502" "30" "2016" "0" "2016" "0" "c.2016A>G" "r.(?)" "p.(Leu672=)" "" "0000340863" "00020502" "30" "2188" "0" "2188" "0" "c.2188C>T" "r.(?)" "p.(Leu730=)" "" "0000341895" "00020502" "70" "4171" "0" "4171" "0" "c.4171C>G" "r.(?)" "p.(Arg1391Gly)" "" "0000341910" "00020502" "50" "4247" "0" "4247" "0" "c.4247G>A" "r.(?)" "p.(Arg1416Gln)" "" "0000341944" "00020502" "90" "4402" "0" "4402" "0" "c.4402C>T" "r.(?)" "p.(Arg1468Ter)" "" "0000341967" "00020502" "10" "4562" "0" "4562" "0" "c.4562G>A" "r.(?)" "p.(Arg1521Gln)" "" "0000342076" "00020502" "90" "5188" "0" "5188" "0" "c.5188C>T" "r.(?)" "p.(Arg1730Ter)" "" "0000343476" "00020502" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Cys)" "" "0000344876" "00020502" "90" "1504" "0" "1504" "0" "c.1504C>T" "r.(?)" "p.(Gln502Ter)" "" "0000346369" "00020502" "10" "3893" "0" "3893" "0" "c.3893A>G" "r.(?)" "p.(His1298Arg)" "" "0000347195" "00020502" "70" "1469" "0" "1469" "0" "c.1469T>C" "r.(?)" "p.(Leu490Pro)" "" "0000348078" "00020502" "10" "179" "0" "179" "0" "c.179T>C" "r.(?)" "p.(Phe60Ser)" "" "0000349315" "00020502" "70" "5125" "0" "5125" "0" "c.5125A>G" "r.(?)" "p.(Thr1709Ala)" "" "0000350133" "00020502" "50" "1631" "0" "1631" "0" "c.1631A>G" "r.(?)" "p.(Tyr544Cys)" "" "0000350299" "00020502" "30" "4399" "0" "4399" "0" "c.4399G>A" "r.(?)" "p.(Val1467Ile)" "" "0000350783" "00020502" "50" "4218" "0" "4218" "0" "c.4218G>A" "r.(?)" "p.(Arg1406=)" "" "0000394669" "00020502" "90" "4027" "0" "4027" "0" "c.4027C>T" "r.(4027c>u)" "p.(Gln1343*)" "20" "0000394670" "00020502" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" "_1_29_" "0000470383" "00020502" "90" "4510" "0" "4510" "0" "c.4510del" "r.(?)" "p.(Glu1504Argfs*32)" "" "0000554315" "00020502" "30" "5200" "0" "5200" "0" "c.5200T>C" "r.(?)" "p.(Trp1734Arg)" "" "0000554317" "00020502" "90" "4915" "0" "4916" "0" "c.4915_4916dup" "r.(?)" "p.(Leu1640TyrfsTer25)" "" "0000554318" "00020502" "50" "4883" "0" "4883" "0" "c.4883G>A" "r.(?)" "p.(Cys1628Tyr)" "" "0000554319" "00020502" "30" "4863" "0" "4863" "0" "c.4863C>G" "r.(?)" "p.(Leu1621=)" "" "0000554320" "00020502" "10" "4842" "0" "4842" "0" "c.4842C>T" "r.(?)" "p.(Phe1614=)" "" "0000554321" "00020502" "30" "4563" "0" "4563" "0" "c.4563G>A" "r.(?)" "p.(Arg1521=)" "" "0000554322" "00020502" "50" "4432" "0" "4432" "0" "c.4432A>C" "r.(?)" "p.(Thr1478Pro)" "" "0000554323" "00020502" "30" "4260" "0" "4260" "0" "c.4260G>A" "r.(?)" "p.(Lys1420=)" "" "0000554324" "00020502" "10" "4127" "8" "4127" "8" "c.4127+8C>T" "r.(=)" "p.(=)" "" "0000554325" "00020502" "70" "3794" "0" "3794" "0" "c.3794C>T" "r.(?)" "p.(Pro1265Leu)" "" "0000554326" "00020502" "90" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Gln1201Ter)" "" "0000554327" "00020502" "30" "3540" "0" "3540" "0" "c.3540T>G" "r.(?)" "p.(Leu1180=)" "" "0000554328" "00020502" "30" "3360" "0" "3360" "0" "c.3360T>C" "r.(?)" "p.(Cys1120=)" "" "0000554329" "00020502" "30" "3307" "-5" "3307" "-5" "c.3307-5dup" "r.spl?" "p.?" "" "0000554330" "00020502" "90" "3217" "0" "3217" "0" "c.3217C>T" "r.(?)" "p.(Arg1073Ter)" "" "0000554331" "00020502" "70" "2914" "0" "2914" "0" "c.2914C>T" "r.(?)" "p.(Arg972Trp)" "" "0000554332" "00020502" "50" "2411" "0" "2411" "0" "c.2411C>G" "r.(?)" "p.(Pro804Arg)" "" "0000554333" "00020502" "70" "1365" "0" "1365" "0" "c.1365C>G" "r.(?)" "p.(Cys455Trp)" "" "0000554334" "00020502" "50" "919" "0" "919" "0" "c.919T>C" "r.(?)" "p.(Phe307Leu)" "" "0000554335" "00020502" "30" "678" "0" "678" "0" "c.678A>T" "r.(?)" "p.(Thr226=)" "" "0000554336" "00020502" "30" "671" "0" "671" "0" "c.671C>T" "r.(?)" "p.(Thr224Ile)" "" "0000554337" "00020502" "50" "418" "0" "418" "0" "c.418C>A" "r.(?)" "p.(Leu140Ile)" "" "0000554338" "00020502" "30" "409" "0" "409" "0" "c.409C>G" "r.(?)" "p.(Leu137Val)" "" "0000554339" "00020502" "10" "333" "0" "333" "0" "c.333G>T" "r.(?)" "p.(Gly111=)" "" "0000554340" "00020502" "30" "99" "0" "99" "0" "c.99C>T" "r.(?)" "p.(Asp33=)" "" "0000615312" "00020502" "50" "5200" "0" "5200" "0" "c.5200T>C" "r.(?)" "p.(Trp1734Arg)" "" "0000615313" "00020502" "90" "4424" "0" "4424" "0" "c.4424G>A" "r.(?)" "p.(Trp1475Ter)" "" "0000615314" "00020502" "90" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Gln797Ter)" "" "0000615315" "00020502" "50" "1580" "0" "1580" "0" "c.1580G>C" "r.(?)" "p.(Cys527Ser)" "" "0000615316" "00020502" "50" "1466" "0" "1466" "0" "c.1466G>C" "r.(?)" "p.(Ser489Thr)" "" "0000615317" "00020502" "50" "319" "0" "321" "0" "c.319_321dup" "r.(?)" "p.(Glu107dup)" "" "0000623226" "00020502" "90" "3794" "1" "3794" "1" "c.3794+1G>A" "r.spl?" "p.?" "" "0000631810" "00020502" "99" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195*)" "2" "0000631811" "00020502" "70" "4226" "0" "4229" "0" "c.4226_4229delinsC" "r.(?)" "p.(Leu1409_Gly1410delinsSer)" "" "0000631812" "00020502" "70" "4816" "0" "4816" "0" "c.4816dup" "r.(?)" "p.(Leu1606Profs*25)" "" "0000631813" "00020502" "90" "5141" "0" "5142" "0" "c.5141_5142del" "r.(?)" "p.(Val1714Glyfs*5)" "" "0000631814" "00020502" "70" "958" "0" "958" "0" "c.958C>T" "r.(?)" "p.(His320Tyr)" "" "0000631815" "00020502" "50" "2614" "0" "2614" "0" "c.2614C>T" "r.(?)" "p.(Pro872Ser)" "" "0000631816" "00020502" "50" "4552" "0" "4552" "0" "c.4552G>A" "r.(?)" "p.(Gly1518Ser)" "" "0000649070" "00020502" "90" "4701" "1" "4701" "1" "c.4701+1G>A" "r.spl?" "p.?" "" "0000649071" "00020502" "10" "4561" "0" "4561" "0" "c.4561C>T" "r.(?)" "p.(Arg1521Trp)" "" "0000649072" "00020502" "90" "4402" "0" "4402" "0" "c.4402C>T" "r.(?)" "p.(Arg1468*)" "" "0000659735" "00020502" "70" "4552" "0" "4552" "0" "c.4552G>A" "r.(?)" "p.(Gly1518Ser)" "" "0000659741" "00020502" "90" "4057" "0" "4057" "0" "c.4057C>T" "r.(?)" "p.(Gln1353*)" "" "0000659742" "00020502" "90" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Gln195*)" "" "0000667170" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000667171" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000667172" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000667173" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000667174" "00020502" "90" "4226" "0" "4229" "0" "c.4226_4229delinsC" "r.(?)" "p.(Leu1409Serfs*25)" "" "0000667175" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000667176" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000680176" "00020502" "30" "353" "0" "353" "0" "c.353C>G" "r.(?)" "p.(Ala118Gly)" "" "0000691796" "00020502" "30" "4561" "0" "4561" "0" "c.4561C>T" "r.(?)" "p.(Arg1521Trp)" "" "0000691797" "00020502" "30" "3681" "9" "3681" "9" "c.3681+9G>T" "r.(=)" "p.(=)" "" "0000698059" "00020502" "70" "4012" "0" "4012" "0" "c.4012C>T" "r.(?)" "p.(Arg1338*)" "20" "0000711843" "00020502" "50" "2784" "0" "2784" "0" "c.2784G>T" "r.(?)" "p.(Arg928Ser)" "" "0000712234" "00020502" "90" "4227" "0" "4230" "0" "c.4227_4230del" "r.(?)" "p.(Leu1409Phefs*9)" "" "0000712235" "00020502" "90" "5141" "0" "5142" "0" "c.5141_5142del" "r.(?)" "p.(Val1714Glyfs*5)" "" "0000712236" "00020502" "90" "4816" "0" "4816" "0" "c.4816dupC" "r.(?)" "p.(Leu1606Profs*25)" "" "0000712237" "00020502" "90" "4057" "0" "4057" "0" "c.4057C>T" "r.(?)" "p.(Gln1353*)" "" "0000725098" "00020502" "90" "4837" "0" "4837" "0" "c.4837G>T" "r.(?)" "p.(Glu1613Ter)" "" "0000725099" "00020502" "90" "4402" "0" "4402" "0" "c.4402C>T" "r.(?)" "p.(Arg1468Ter)" "" "0000725100" "00020502" "50" "4020" "0" "4020" "0" "c.4020C>G" "r.(?)" "p.(Ile1340Met)" "" "0000725101" "00020502" "50" "3710" "0" "3710" "0" "c.3710G>A" "r.(?)" "p.(Arg1237Gln)" "" "0000725102" "00020502" "90" "3460" "0" "3460" "0" "c.3460C>T" "r.(?)" "p.(Arg1154*)" "" "0000725103" "00020502" "90" "1355" "0" "1355" "0" "c.1355del" "r.(?)" "p.(Pro452Leufs*84)" "" "0000806696" "00020502" "30" "3894" "0" "3894" "0" "c.3894C>T" "r.(?)" "p.(His1298=)" "" "0000806697" "00020502" "50" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Arg1073Gln)" "" "0000806698" "00020502" "50" "613" "0" "613" "0" "c.613G>T" "r.(?)" "p.(Gly205Cys)" "" "0000813028" "00020502" "90" "0" "0" "0" "0" "c.-78_*109{0}" "r.0" "p.0" "_1_29_" "0000830856" "00020502" "70" "4057" "0" "4057" "0" "c.4057C>T" "r.(?)" "p.(Gln1353Ter)" "" "0000854017" "00020502" "50" "4689" "0" "4689" "0" "c.4689G>C" "r.(?)" "p.(Trp1563Cys)" "" "0000854018" "00020502" "90" "3794" "1" "3794" "1" "c.3794+1G>A" "r.spl?" "p.?" "" "0000854019" "00020502" "90" "3601" "0" "3601" "0" "c.3601C>T" "r.(?)" "p.(Gln1201Ter)" "" "0000854020" "00020502" "90" "2171" "0" "2174" "0" "c.2171_2174del" "r.(?)" "p.(Val724Glyfs*6)" "" "0000854021" "00020502" "50" "1453" "0" "1453" "0" "c.1453T>G" "r.(?)" "p.(Cys485Gly)" "" "0000863839" "00020502" "50" "4622" "0" "4622" "0" "c.4622G>A" "r.(?)" "p.(Arg1541Gln)" "" "0000863840" "00020502" "30" "4399" "0" "4399" "0" "c.4399G>A" "r.(?)" "p.(Val1467Ile)" "" "0000863841" "00020502" "90" "2314" "-1" "2314" "-1" "c.2314-1G>C" "r.spl?" "p.?" "" "0000892052" "00020502" "50" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Arg1073Gln)" "" "0000892053" "00020502" "50" "2640" "0" "2640" "0" "c.2640G>T" "r.(?)" "p.(Glu880Asp)" "" "0000892054" "00020502" "90" "1144" "0" "1144" "0" "c.1144C>T" "r.(?)" "p.(Gln382*)" "" "0000892056" "00020502" "90" "739" "0" "739" "0" "c.739del" "r.(?)" "p.(Leu247Serfs*76)" "" "0000892057" "00020502" "10" "333" "0" "333" "0" "c.333G>T" "r.(?)" "p.(Gly111=)" "" "0000892058" "00020502" "30" "102" "0" "102" "0" "c.102T>C" "r.(?)" "p.(Pro34=)" "" "0000925966" "00020502" "30" "1002" "0" "1002" "0" "c.1002G>A" "r.(?)" "p.(Pro334=)" "" "0000950348" "00020502" "50" "2779" "0" "2779" "0" "c.2779C>T" "r.(?)" "p.(Arg927Cys)" "" "0000981221" "00020502" "30" "-21781" "0" "-21781" "0" "c.-21781T>C" "r.(?)" "p.(=)" "" "0001040360" "00020502" "50" "2314" "-1" "2314" "-1" "c.2314-1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 63 "{{screeningid}}" "{{variantid}}" "0000059112" "0000089909" "0000059112" "0000096182" "0000059146" "0000089956" "0000059146" "0000089957" "0000060256" "0000091256" "0000060256" "0000091258" "0000060257" "0000091259" "0000060257" "0000091262" "0000060260" "0000091260" "0000060261" "0000091261" "0000060262" "0000091263" "0000060268" "0000091273" "0000064760" "0000096181" "0000080099" "0000129861" "0000080109" "0000129863" "0000080111" "0000129865" "0000080127" "0000129867" "0000117750" "0000188752" "0000117750" "0000188753" "0000117751" "0000188755" "0000117751" "0000188756" "0000117752" "0000188757" "0000117752" "0000188758" "0000117753" "0000188759" "0000117754" "0000188760" "0000117754" "0000188761" "0000117755" "0000188762" "0000117756" "0000188764" "0000117757" "0000188765" "0000117757" "0000188766" "0000117758" "0000188767" "0000117759" "0000188770" "0000117760" "0000188773" "0000174800" "0000394669" "0000174800" "0000394670" "0000229236" "0000470383" "0000277079" "0000631810" "0000277079" "0000667172" "0000277080" "0000631811" "0000277080" "0000667173" "0000277081" "0000631812" "0000277081" "0000667175" "0000277082" "0000631813" "0000277082" "0000667176" "0000277083" "0000631814" "0000277083" "0000667174" "0000277084" "0000631815" "0000277084" "0000667171" "0000277085" "0000631816" "0000277085" "0000667170" "0000292381" "0000649070" "0000292382" "0000649071" "0000292383" "0000649072" "0000297119" "0000659735" "0000297125" "0000659741" "0000297125" "0000659742" "0000315951" "0000698059" "0000328288" "0000712234" "0000328289" "0000712235" "0000328290" "0000712236" "0000328291" "0000712237" "0000385854" "0000813028" "0000398640" "0000830856"