### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = LARGE)
# 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}}"
"LARGE" "like-glycosyltransferase" "22" "q12.3" "no" "NC_000022.10" "UD_132118580818" "" "https://www.LOVD.nl/LARGE1" "" "1" "6511" "9215" "603590" "1" "1" "1" "1" "NOTE: gene symbol was recently changed from LARGE to LARGE1.\r\nThis database is one of the gene variant databases from the:![](\"docs/LOVD_LMDp-logo.png\")
" "" "g" "https://databases.lovd.nl/shared/refseq/LARGE_codingDNA.html" "1" "" "NOTE: gene symbol was recently changed from LARGE to LARGE1.\r\nThis database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00000" "2007-12-01 00:00:00" "00006" "2019-10-11 10:55:05" "03840" "2021-12-15 20:02:58"
## 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}}"
"00024074" "LARGE" "transcript variant 1" "002" "NM_004737.4" "" "NP_004728.1" "" "" "" "-579" "3622" "2271" "34316416" "33669062" "00006" "2015-11-07 17:12:57" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 13
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40"
"00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02"
"00361" "WWS" "Walker-Warburg syndrome (WWS)" "SMo" "" "" "" "" "00006" "2014-03-22 16:35:00" "00006" "2021-12-10 21:51:32"
"00816" "MDDGA6" "dystrophy, muscular, dystroglycanopathy (congenital with brain and eye anomalies), type A6 (MDDGA-6)" "AR" "613154" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"00817" "MDDGB6" "dystrophy, muscular, dystroglycanopathy (congenital with mental retardation), type B6" "AR" "608840" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "retinal disease" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00006" "2020-08-25 10:54:40"
"04255" "ALS" "sclerosis, lateral, amyotrophic (ALS)" "" "" "" "" "" "00015" "2015-05-08 11:45:27" "00006" "2015-12-08 23:53:05"
"05114" "MEB" "muscle-eye-brain disease (MEB)" "" "" "" "" "" "00006" "2016-01-11 01:44:42" "" ""
"05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" ""
"05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" ""
"05362" "LIS" "lissencephaly (LIS)" "" "" "" "" "" "00006" "2017-12-29 12:16:43" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"LARGE" "00139"
"LARGE" "00816"
"LARGE" "00817"
## Individuals ## Do not remove or alter this header ##
## Count = 62
"{{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}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00054665" "" "" "" "1" "" "01399" "{PMID:O\'Grady 2016:27159402}" "" "F" "" "Australia" ">19y" "0" "" "" "" ""
"00054683" "" "" "" "1" "" "01399" "{PMID:O\'Grady 2016:27159402}" "2-generation family, unaffected heterozygous carrier parents" "M" "" "Australia" ">09y" "0" "" "" "" "Pat98"
"00152609" "" "" "" "1" "" "00006" "{PMID:Longman 2003:12966029}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "British" ""
"00152610" "" "" "" "1" "" "00006" "{PMID:van Reeuwijk 2007:17436019}" "unaffected carrier parents second degree cousins; brother of 17436019.1" "M" "" "Saudi Arabia" "" "0" "" "" "" ""
"00152611" "" "" "" "1" "" "00006" "{PMID:van Reeuwijk 2007:17436019}" "unaffected carrier parents second degree cousins; sister of 17436019.2" "F" "" "Saudi Arabia" "" "0" "" "" "" ""
"00152612" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152613" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152614" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152615" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152616" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152617" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152618" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152619" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152620" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152621" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152622" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152623" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152624" "" "" "" "1" "" "00006" "{PMID:Clement:19067344}" "" "" "" "" "" "0" "" "" "" ""
"00152625" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152626" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152627" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152628" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152629" "" "" "" "1" "" "00006" "{PMID:Godfrey 2007:17878207}" "" "" "" "" "" "0" "" "" "" ""
"00152630" "" "" "" "1" "" "00006" "L Medne ASHG 2010 A1669" "" "" "" "" "" "0" "" "" "" ""
"00152631" "" "" "" "1" "" "00006" "{PMID:Clement:19067344}" "" "" "" "" ">14y" "0" "" "" "" ""
"00152632" "" "" "" "1" "" "00006" "{PMID:Clement:19067344}" "" "" "" "" ">1y" "0" "" "" "" ""
"00152633" "" "" "" "1" "" "00006" "{PMID:Mercuri 2009:19299310}" "" "" "" "" "" "0" "" "" "" ""
"00152634" "" "" "" "1" "" "00006" "{PMID:Clarke 2011:21248746}" "unaffected carrier first-cousin parents; sister of 21248746-Pat2" "F" "yes" "Lebanon" "" "0" "" "" "" ""
"00152635" "" "" "" "1" "" "00006" "{PMID:Clarke 2011:21248746}" "unaffected carrier first-cousin parents; sister of 21248746-Pat1" "F" "yes" "Lebanon" "" "0" "" "" "" ""
"00152636" "" "" "" "1" "" "00006" "{PMID:Vuillaumier-Barrot 2011:21727005}" "" "" "no" "" "" "0" "" "" "" ""
"00152637" "" "" "" "1" "" "00006" "{PMID:Vuillaumier-Barrot 2011:21727005}" "" "" "no" "" "" "0" "" "" "" ""
"00152642" "" "" "" "1" "" "00464" "" "no causative LARGE mutations found" "M" "" "" "" "0" "" "" "" ""
"00152643" "" "" "" "1" "" "00464" "" "" "" "" "" "" "0" "" "" "" ""
"00152644" "" "" "" "1" "" "00464" "" "" "F" "" "United States" "" "0" "" "" "" ""
"00152645" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" ""
"00152646" "" "" "" "1" "" "00464" "" "" "" "" "United States" "" "0" "" "" "" ""
"00152647" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152648" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152649" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152650" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152651" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152652" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152653" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152654" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152655" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152656" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152657" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152658" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152659" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152660" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152661" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" ""
"00152689" "" "" "" "1" "" "00006" "{PMID:Mercuri 2009:19299310}" "" "" "" "Italy" "" "0" "" "" "" "19299310-Pat43"
"00207901" "" "" "" "1" "" "03121" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "242: proband diagnosed with ALS\r\n243: unaffected MZ twin" "M" "" "" "" "0" "" "" "" "242"
"00265901" "" "" "" "1" "" "00006" "{PMID:Cummings 2017:28424332}" "" "" "" "" "" "0" "" "" "" "PatD1"
"00293102" "" "" "" "114" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00293103" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304901" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304902" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00361607" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "11DG1643"
"00396466" "" "" "" "1" "" "00000" "{PMID:Sudha 2017:28574807}" "" "M" "" "(United States)" "" "0" "" "" "" "101"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 53
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00054665" "00360"
"00054683" "00360"
"00152609" "00360"
"00152610" "00361"
"00152611" "00361"
"00152613" "00198"
"00152615" "00198"
"00152617" "00198"
"00152624" "00361"
"00152625" "00198"
"00152626" "00198"
"00152627" "00198"
"00152628" "00198"
"00152629" "00198"
"00152630" "00360"
"00152631" "00360"
"00152632" "05114"
"00152633" "00361"
"00152634" "00360"
"00152635" "00360"
"00152636" "05362"
"00152637" "05362"
"00152642" "00360"
"00152643" "05126"
"00152644" "00360"
"00152645" "00198"
"00152646" "00361"
"00152647" "00198"
"00152648" "00198"
"00152649" "00198"
"00152650" "00198"
"00152651" "00198"
"00152652" "00198"
"00152653" "00198"
"00152654" "00198"
"00152655" "00198"
"00152656" "00198"
"00152657" "00198"
"00152658" "00198"
"00152659" "00198"
"00152660" "00198"
"00152661" "00198"
"00152689" "00360"
"00207901" "04255"
"00265901" "05121"
"00293102" "00198"
"00293103" "00198"
"00304901" "00198"
"00304902" "00198"
"00361607" "00139"
"00396466" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00360, 00361, 00816, 00817, 01157, 04214, 04255, 05114, 05121, 05126, 05362
## Count = 47
"{{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}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000041344" "00360" "00054665" "01399" "Familial, autosomal recessive" "19y" "gross motor delay, walked age 6y with support, moderate cognitive delay, leukodystrophy; CPK elevated (5000-7000); IHC alphaDG; histology dystrophic" "1y" "" "" "" "" "" "" "" "" "" ""
"0000041362" "00360" "00054683" "01399" "Familial, autosomal recessive" "9y" "infantile hypotonia, gross motor delay, MRI - white matter abnormalities; CPK elevated); IHC alphaDG; histology dystrophic" "" "" "" "" "" "" "" "" "" "" ""
"0000125547" "00360" "00152609" "00006" "Isolated (sporadic)" "" "developmental delay, hypotonia, mirror movements upper limbs, maximal motor function 9y (walk 200 yards, jump) since then gradual deterioration mobility; CPK 467-4500; intellectual disability; sit 2.5y, walk 4.5y" "5m" "17y" "" "WB DAG1 reduced average size" "" "" "" "" "" "dystrophy, muscular, congenital, 1D (MDC-1D)" ""
"0000125548" "00361" "00152610" "00006" "Isolated (sporadic)" "" "phenotype see paper; CPK 180x" "" "" "" "" "" "" "" "" "MDDGA-6" "Walker-Warburg syndrome (WWS)" ""
"0000125549" "00361" "00152611" "00006" "Isolated (sporadic)" "" "phenotype see paper; CPK 10-286x" "" "" "" "" "" "" "" "" "MDDGA-6" "Walker-Warburg syndrome (WWS)" ""
"0000125550" "00198" "00152613" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125551" "00198" "00152615" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125552" "00198" "00152617" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125553" "00361" "00152624" "00006" "Unknown" "" "contractures, retinal detachmenty, MRI cerebellar hypoplasia, hydrocephalus, white matter abnormality, lissencephaly, feeding difficulties, RIP 8w; ?microcephaly; CPK 5700; intellectual disability; no motor milestones" "<0d" "" "" "" "" "" "" "" "MDDGA-6" "Walker-Warburg syndrome (WWS)" ""
"0000125554" "00198" "00152625" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125555" "00198" "00152626" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125556" "00198" "00152627" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125557" "00198" "00152628" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125558" "00198" "00152629" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000125559" "00360" "00152630" "00006" "Isolated (sporadic)" "" "MRI brain white matter chanes, cortical migrational abnormalities" "12m" "" "developmental delay, hypotonia, esotropia" "" "" "" "" "" "" "dystrophy, muscular, congenital" ""
"0000125560" "00360" "00152631" "00006" "Unknown" "" "no microcephaly, nystagmus, abnormal ERG; CPK 4500; intellectual disability" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, congenital" ""
"0000125561" "05114" "00152632" "00006" "Unknown" "" "no microcephaly, myopia; CPK 400; intellectual disability" "" "" "" "" "" "" "" "" "MDDGA-6" "muscle-eye-brain disease" ""
"0000125562" "00361" "00152633" "00006" "Isolated (sporadic)" "" "no microcephaly, no epilepsy, MRI WWS-type, ?eye involvement; CPK 10x; intellectual disability; head control" "" "" "" "WB no DAG1" "" "" "" "" "MDDGA-6" "Walker-Warburg syndrome (WWS)" ""
"0000125563" "00360" "00152634" "00006" "Isolated (sporadic)" "" "delayed motor milestones; CPK 30x; intellectual disability (IQ 61); sit 9m, stood 2.5y, stairs 8y, never run" "2m14d" "" "hypotonia, regurgitation" "WB no DAG1; IHC DAG1 reduced, LAMA2 mildly reduced, normal DMD/SGCA/SGCG" "" "" "" "" "" "dystrophy, muscular, congenital, 1D (MDC-1D)" ""
"0000125564" "00360" "00152635" "00006" "Isolated (sporadic)" "" "generalised hypotonia, mild myopia; CPK 60x; stood 16m, walk 2y" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, congenital, 1D (MDC-1D)" ""
"0000125565" "05362" "00152636" "00006" "Isolated (sporadic)" "" "22w pregnancy termination because of reoccurrence severe quadriventricular hydrocephalus/cerebellar hypoplasia (like fetus F1); fetus dysmorphic features, horizontal narrow palpebral slit, bulging eyes, hypertrichosis cheeks/shoulders" "<0d" "" "" "" "" "" "" "" "" "lissencephaly, type II" ""
"0000125566" "05362" "00152637" "00006" "Isolated (sporadic)" "" "fetus triventricular hydrocephalus, no encephalocele, no retinal dysplasia, no other visceral abnormalities" "<0d" "" "" "" "" "" "" "" "" "lissencephaly, type II" ""
"0000125571" "00360" "00152642" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, congenital" ""
"0000125572" "05126" "00152643" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, limb-girdle, type 2 (LGMD-2)" ""
"0000125573" "00360" "00152644" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, congenital" ""
"0000125574" "00198" "00152645" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125575" "00361" "00152646" "00464" "Unknown" "" "" "" "" "" "" "" "" "" "" "MDDGA-6" "Walker-Warburg syndrome (WWS)" ""
"0000125576" "00198" "00152647" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125577" "00198" "00152648" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125578" "00198" "00152649" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125579" "00198" "00152650" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125580" "00198" "00152651" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125581" "00198" "00152652" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125582" "00198" "00152653" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125583" "00198" "00152654" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125584" "00198" "00152655" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125585" "00198" "00152656" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125586" "00198" "00152657" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125587" "00198" "00152658" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125588" "00198" "00152659" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125589" "00198" "00152660" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125590" "00198" "00152661" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "unclassified / mixed" ""
"0000125618" "00360" "00152689" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "dystrophy, muscular, congenital" ""
"0000257012" "00139" "00361607" "00006" "Familial, autosomal recessive" "4d" "syndromic; global developmental delay, severe hydocephalus, eye involvement and high CPK" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000289627" "04214" "00396466" "00000" "Familial, X-linked recessive" "" "retinoschisis with developmental delay, sensorineural hearing loss, and reduced axial tone" "" "" "" "" "" "" "" "" "retinoschisis" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 62
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000054614" "00054665" "1" "01399" "01399" "2015-11-08 12:06:11" "" "" "SEQ" "DNA" "" ""
"0000054632" "00054683" "1" "01399" "01399" "2015-11-08 12:06:11" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000153467" "00152609" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2017-03-31 14:13:45" "SEQ" "DNA" "" ""
"0000153468" "00152610" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-09 19:02:29" "MAPH;MLPA" "DNA" "" ""
"0000153469" "00152611" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-09 19:02:29" "MAPH;MLPA" "DNA" "" ""
"0000153470" "00152612" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153471" "00152613" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153472" "00152614" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153473" "00152615" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153474" "00152616" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153475" "00152617" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153476" "00152618" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153477" "00152619" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153478" "00152620" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153479" "00152621" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153480" "00152622" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153481" "00152623" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153482" "00152624" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153483" "00152625" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153484" "00152626" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153485" "00152627" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153486" "00152628" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153487" "00152629" "1" "00006" "00006" "2008-01-29 17:24:44" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153488" "00152630" "1" "00006" "00006" "2010-11-12 15:34:03" "00006" "2012-03-09 18:27:00" "SEQ" "DNA" "" ""
"0000153489" "00152631" "1" "00006" "00006" "2011-03-13 11:20:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153490" "00152632" "1" "00006" "00006" "2011-03-13 11:20:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153491" "00152633" "1" "00006" "00006" "2011-03-13 11:20:23" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153492" "00152634" "1" "00006" "00006" "2012-04-22 00:16:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153493" "00152635" "1" "00006" "00006" "2012-04-22 00:16:26" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153494" "00152636" "1" "00006" "00006" "2012-04-22 00:16:26" "" "" "arrayCGH;PCRq;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153495" "00152637" "1" "00006" "00006" "2012-04-22 00:16:26" "" "" "arrayCGH;PCRq;RT-PCR;SEQ" "DNA;RNA" "" ""
"0000153500" "00152642" "1" "00464" "00464" "2008-04-08 21:36:13" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153501" "00152643" "1" "00464" "00464" "2008-06-30 20:55:11" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153502" "00152644" "1" "00464" "00464" "2008-06-18 18:22:27" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153503" "00152645" "1" "00464" "00464" "2008-08-05 20:37:21" "00006" "2012-03-04 15:57:43" "SEQ" "DNA" "" ""
"0000153504" "00152646" "1" "00464" "00464" "2010-07-14 17:19:08" "00006" "2012-03-04 15:57:43" "PCR;SEQ" "DNA" "" ""
"0000153505" "00152647" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153506" "00152648" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153507" "00152649" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153508" "00152650" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153509" "00152651" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153510" "00152652" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153511" "00152653" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153512" "00152654" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153513" "00152655" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153514" "00152656" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153515" "00152657" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153516" "00152658" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153517" "00152659" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153518" "00152660" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153519" "00152661" "1" "00430" "00430" "2012-10-26 14:16:47" "" "" "SEQ" "DNA" "" ""
"0000153547" "00152689" "1" "00006" "00006" "2018-02-05 21:19:50" "" "" "SEQ" "DNA" "" ""
"0000208945" "00207901" "1" "03121" "03121" "2018-12-02 22:56:34" "" "" "SEQ-NG" "DNA" "LCL" "WES"
"0000267021" "00265901" "1" "00006" "00006" "2019-10-11 10:59:22" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" ""
"0000294270" "00293102" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000294271" "00293103" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306030" "00304901" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000306031" "00304902" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000362835" "00361607" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "758-gene panel"
"0000397707" "00396466" "1" "00000" "03840" "2021-12-15 20:02:57" "" "" "SEQ-NG" "DNA" "blood" "targeted next generation sequencing panel consisted of 550 genes implicated in several other rare inherited diseases"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 55
"{{screeningid}}" "{{geneid}}"
"0000054614" "LARGE"
"0000054632" "LARGE"
"0000153467" "LARGE"
"0000153468" "LARGE"
"0000153469" "LARGE"
"0000153470" "LARGE"
"0000153471" "LARGE"
"0000153472" "LARGE"
"0000153473" "LARGE"
"0000153474" "LARGE"
"0000153475" "LARGE"
"0000153476" "LARGE"
"0000153477" "LARGE"
"0000153478" "LARGE"
"0000153479" "LARGE"
"0000153480" "LARGE"
"0000153481" "LARGE"
"0000153482" "LARGE"
"0000153483" "LARGE"
"0000153484" "LARGE"
"0000153485" "LARGE"
"0000153486" "LARGE"
"0000153487" "LARGE"
"0000153488" "LARGE"
"0000153489" "LARGE"
"0000153490" "LARGE"
"0000153491" "LARGE"
"0000153492" "LARGE"
"0000153493" "LARGE"
"0000153494" "LARGE"
"0000153495" "LARGE"
"0000153500" "LARGE"
"0000153501" "LARGE"
"0000153502" "LARGE"
"0000153503" "LARGE"
"0000153504" "LARGE"
"0000153505" "LARGE"
"0000153506" "LARGE"
"0000153507" "LARGE"
"0000153508" "LARGE"
"0000153509" "LARGE"
"0000153510" "LARGE"
"0000153511" "LARGE"
"0000153512" "LARGE"
"0000153513" "LARGE"
"0000153514" "LARGE"
"0000153515" "LARGE"
"0000153516" "LARGE"
"0000153517" "LARGE"
"0000153518" "LARGE"
"0000153519" "LARGE"
"0000153547" "LARGE"
"0000267021" "LARGE"
"0000362835" "LARGE"
"0000397707" "NSD1"
## 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 = 126
"{{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}}"
"0000002721" "0" "50" "22" "34086656" "34086657" "del" "0" "00037" "LARGE_000049" "g.34086656_34086657del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33690670_33690671del" "" "VUS" ""
"0000014017" "0" "30" "22" "33832735" "33832735" "subst" "0" "00037" "LARGE_000079" "g.33832735A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33436749A>G" "" "likely benign" ""
"0000084564" "1" "50" "22" "33700305" "33700305" "subst" "0.00000406078" "01399" "LARGE_000018" "g.33700305C>T" "" "{PMID:O\'Grady 2016:27159402}" "" "" "no variant 2nd chromosome" "Germline" "yes" "" "0" "" "" "g.33304319C>T" "" "VUS" ""
"0000084582" "1" "90" "22" "33700305" "33700305" "subst" "0.00000406078" "01399" "LARGE_000018" "g.33700305C>T" "" "{PMID:O\'Grady 2016:27159402}" "" "" "" "Germline" "yes" "" "0" "" "" "g.33304319C>T" "" "pathogenic (recessive)" ""
"0000254270" "0" "30" "22" "33778028" "33778028" "subst" "0.00358765" "01943" "LARGE_000059" "g.33778028A>G" "" "" "" "LARGE1(NM_004737.5):c.1008T>C (p.D336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33382042A>G" "" "likely benign" ""
"0000254401" "0" "30" "22" "34157374" "34157374" "subst" "0.0000325026" "01943" "LARGE_000076" "g.34157374A>C" "" "" "" "LARGE1(NM_004737.5):c.90T>G (p.F30L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33761387A>C" "" "likely benign" ""
"0000282113" "0" "30" "22" "33712102" "33712102" "subst" "0.000850008" "02325" "LARGE_000058" "g.33712102C>T" "" "" "" "LARGE1(NM_004737.5):c.1420G>A (p.V474I), LARGE1(NM_004737.6):c.1420G>A (p.V474I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33316116C>T" "" "likely benign" ""
"0000282114" "0" "10" "22" "33670584" "33670584" "subst" "0.0473333" "02325" "LARGE_000012" "g.33670584G>A" "" "" "" "LARGE1(NM_004737.5):c.2100C>T (p.N700=), LARGE1(NM_004737.6):c.2100C>T (p.N700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33274598G>A" "" "benign" ""
"0000282115" "0" "10" "22" "34022284" "34022284" "subst" "0.488449" "02325" "LARGE_000014" "g.34022284G>A" "" "" "" "LARGE1(NM_004737.5):c.435C>T (p.A145=), LARGE1(NM_004737.6):c.435C>T (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33626300G>A" "" "benign" ""
"0000290856" "0" "10" "22" "33700397" "33700397" "subst" "0.00616792" "01943" "LARGE_000041" "g.33700397G>A" "" "" "" "LARGE1(NM_004737.5):c.1548C>T (p.Y516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33304411G>A" "" "benign" ""
"0000290857" "0" "50" "22" "34046583" "34046583" "subst" "0.000194943" "01943" "LARGE_000074" "g.34046583G>A" "" "" "" "LARGE1(NM_004737.5):c.178C>T (p.R60W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33650597G>A" "" "VUS" ""
"0000290858" "0" "50" "22" "33679263" "33679263" "subst" "0.00000406243" "01943" "LARGE_000055" "g.33679263C>T" "" "" "" "LARGE1(NM_004737.5):c.1802G>A (p.R601H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33283277C>T" "" "VUS" ""
"0000290859" "0" "30" "22" "33679232" "33679232" "subst" "0.0000203105" "01943" "LARGE_000053" "g.33679232C>T" "" "" "" "LARGE1(NM_004737.5):c.1833G>A (p.A611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33283246C>T" "" "likely benign" ""
"0000290860" "0" "50" "22" "33673126" "33673126" "subst" "0.000016248" "01943" "LARGE_000052" "g.33673126G>A" "" "" "" "LARGE(NM_004737.4):c.1993C>T (p.(Arg665Cys)), LARGE1(NM_004737.5):c.1993C>T (p.R665C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33277140G>A" "" "VUS" ""
"0000290861" "0" "30" "22" "34046551" "34046551" "subst" "0.000580124" "01943" "LARGE_000073" "g.34046551G>A" "" "" "" "LARGE1(NM_004737.5):c.210C>T (p.R70=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33650565G>A" "" "likely benign" ""
"0000290862" "0" "10" "22" "34046452" "34046452" "subst" "0.00437293" "01943" "LARGE_000034" "g.34046452G>A" "" "" "" "LARGE1(NM_004737.5):c.309C>T (p.S103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33650466G>A" "" "benign" ""
"0000290863" "0" "50" "22" "34046427" "34046427" "subst" "0.0000530089" "01943" "LARGE_000070" "g.34046427C>T" "" "" "" "LARGE1(NM_004737.5):c.334G>A (p.E112K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33650441C>T" "" "VUS" ""
"0000290864" "0" "10" "22" "34022329" "34022329" "subst" "0.000248673" "01943" "LARGE_000022" "g.34022329G>A" "" "" "" "LARGE1(NM_004737.5):c.409-19C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33626345G>A" "" "benign" ""
"0000290865" "0" "30" "22" "34000411" "34000411" "subst" "0" "01943" "LARGE_000065" "g.34000411C>A" "" "" "" "LARGE1(NM_004737.5):c.615+10G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33604425C>A" "" "likely benign" ""
"0000290866" "0" "10" "22" "33828280" "33828280" "subst" "0.00596334" "01943" "LARGE_000062" "g.33828280T>C" "" "" "" "LARGE1(NM_004737.5):c.788-29A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33432294T>C" "" "benign" ""
"0000290867" "0" "10" "22" "33780307" "33780307" "subst" "0.00113124" "01943" "LARGE_000061" "g.33780307G>C" "" "" "" "LARGE1(NM_004737.5):c.893-17C>G, LARGE1(NM_004737.6):c.893-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33384321G>C" "" "benign" ""
"0000290868" "0" "30" "22" "34157366" "34157366" "subst" "0.0000325201" "01943" "LARGE_000075" "g.34157366C>T" "" "" "" "LARGE1(NM_004737.5):c.98G>A (p.S33N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33761379C>T" "" "likely benign" ""
"0000290869" "0" "10" "22" "33679238" "33679238" "subst" "0.0158938" "01943" "LARGE_000043" "g.33679238T>C" "" "" "" "LARGE1(NM_004737.5):c.1827A>G (p.S609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33283252T>C" "" "benign" ""
"0000290870" "0" "10" "22" "33670584" "33670584" "subst" "0.0473333" "01943" "LARGE_000012" "g.33670584G>A" "" "" "" "LARGE1(NM_004737.5):c.2100C>T (p.N700=), LARGE1(NM_004737.6):c.2100C>T (p.N700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33274598G>A" "" "benign" ""
"0000290871" "0" "30" "22" "34046495" "34046495" "subst" "0.00000408467" "01943" "LARGE_000072" "g.34046495C>T" "" "" "" "LARGE(NM_004737.4):c.266G>A (p.(Arg89Gln)), LARGE1(NM_004737.5):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33650509C>T" "" "likely benign" ""
"0000290872" "0" "10" "22" "34022284" "34022284" "subst" "0.488449" "01943" "LARGE_000014" "g.34022284G>A" "" "" "" "LARGE1(NM_004737.5):c.435C>T (p.A145=), LARGE1(NM_004737.6):c.435C>T (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33626300G>A" "" "benign" ""
"0000290873" "0" "10" "22" "34000460" "34000460" "subst" "0.0236191" "01943" "LARGE_000035" "g.34000460G>A" "" "" "" "LARGE1(NM_004737.5):c.576C>T (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33604474G>A" "" "benign" ""
"0000290874" "0" "10" "22" "33960892" "33960892" "subst" "0.00000812863" "01943" "LARGE_000063" "g.33960892C>T" "" "" "" "LARGE1(NM_004737.5):c.729G>A (p.T243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33564906C>T" "" "benign" ""
"0000328987" "0" "50" "22" "33673126" "33673126" "subst" "0.000016248" "01804" "LARGE_000052" "g.33673126G>A" "" "" "" "LARGE(NM_004737.4):c.1993C>T (p.(Arg665Cys)), LARGE1(NM_004737.5):c.1993C>T (p.R665C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33277140G>A" "" "VUS" ""
"0000328988" "0" "50" "22" "33700239" "33700239" "subst" "0.000093423" "01804" "LARGE_000056" "g.33700239A>G" "" "" "" "LARGE(NM_004737.4):c.1706T>C (p.(Met569Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33304253A>G" "" "VUS" ""
"0000328990" "0" "50" "22" "33960947" "33960947" "del" "0" "01804" "LARGE_000064" "g.33960947del" "" "" "" "LARGE(NM_004737.4):c.675del (p.(Val226SerfsTer2))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33564961del" "" "VUS" ""
"0000328991" "0" "50" "22" "34046370" "34046370" "subst" "0.000556031" "01804" "LARGE_000069" "g.34046370C>T" "" "" "" "LARGE(NM_004737.4):c.391G>A (p.(Val131Ile)), LARGE1(NM_004737.6):c.391G>A (p.V131I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33650384C>T" "" "VUS" ""
"0000337822" "0" "10" "22" "34157526" "34157526" "subst" "0" "02327" "LARGE_000008" "g.34157526G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33761539G>A" "" "benign" ""
"0000337823" "0" "10" "22" "34316077" "34316077" "subst" "0" "02327" "LARGE_000080" "g.34316077G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33920089G>A" "" "benign" ""
"0000339897" "0" "10" "22" "33679238" "33679238" "subst" "0.0158938" "02327" "LARGE_000043" "g.33679238T>C" "" "" "" "LARGE1(NM_004737.5):c.1827A>G (p.S609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33283252T>C" "" "benign" ""
"0000339898" "0" "10" "22" "33679277" "33679277" "subst" "0.0026527" "02327" "LARGE_000077" "g.33679277C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33283291C>T" "" "benign" ""
"0000339901" "0" "10" "22" "34022284" "34022284" "subst" "0.488449" "02327" "LARGE_000014" "g.34022284G>A" "" "" "" "LARGE1(NM_004737.5):c.435C>T (p.A145=), LARGE1(NM_004737.6):c.435C>T (p.A145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33626300G>A" "" "benign" ""
"0000343818" "0" "10" "22" "33670584" "33670584" "subst" "0.0473333" "02327" "LARGE_000012" "g.33670584G>A" "" "" "" "LARGE1(NM_004737.5):c.2100C>T (p.N700=), LARGE1(NM_004737.6):c.2100C>T (p.N700=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33274598G>A" "" "benign" ""
"0000348258" "0" "10" "22" "34000460" "34000460" "subst" "0.0236191" "02327" "LARGE_000035" "g.34000460G>A" "" "" "" "LARGE1(NM_004737.5):c.576C>T (p.P192=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33604474G>A" "" "benign" ""
"0000349789" "0" "90" "22" "33733777" "33733777" "subst" "0" "02327" "LARGE_000078" "g.33733777C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.33337791C>T" "" "pathogenic" ""
"0000352600" "11" "90" "22" "33673120" "33673120" "dup" "0" "00006" "LARGE_000002" "g.33673120dup" "" "{PMID:Longman 2003:12966029}, {OMIM603590:0002}" "" "1999insT" "" "Germline" "" "" "0" "" "" "g.33277134dup" "" "pathogenic (recessive)" ""
"0000352601" "3" "10" "22" "33735176" "33798267" "del" "0" "00006" "LARGE_000003" "g.33735176_33798267del" "" "{PMID:van Reeuwijk 2007:17436019}, {OMIM603590:0003}" "" "" "deletion 63 Kb" "Germline" "" "" "0" "" "" "g.33339190_33402281del" "" "benign" ""
"0000352602" "3" "10" "22" "33735176" "33798267" "del" "0" "00006" "LARGE_000003" "g.33735176_33798267del" "" "{PMID:van Reeuwijk 2007:17436019}, {OMIM603590:0003}" "" "" "deletion 63 Kb" "Germline" "" "" "0" "" "" "g.33339190_33402281del" "" "benign" ""
"0000352603" "0" "10" "22" "33777944" "33777944" "subst" "0.000873458" "00006" "LARGE_000004" "g.33777944G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in one patients" "Germline" "" "" "0" "" "" "g.33381958G>A" "" "benign" ""
"0000352604" "0" "10" "22" "33733527" "33733527" "subst" "0" "00006" "LARGE_000005" "g.33733527C>G" "" "{PMID:Godfrey 2007:17878207}" "" "" "found in several patients" "Germline" "" "" "0" "" "" "g.33337541C>G" "" "benign" ""
"0000352605" "0" "10" "22" "33733486" "33733486" "subst" "0" "00006" "LARGE_000006" "g.33733486G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33337500G>A" "" "benign" ""
"0000352606" "0" "10" "22" "33712033" "33712033" "subst" "0.00168157" "00006" "LARGE_000007" "g.33712033G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "found in one patient" "Germline" "" "" "0" "" "" "g.33316047G>A" "" "benign" ""
"0000352607" "0" "10" "22" "34157526" "34157526" "subst" "0" "00006" "LARGE_000008" "g.34157526G>A" "" "{PMID:Godfrey 2007:17878207}" "" "1-63C>T" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33761539G>A" "" "benign" ""
"0000352608" "0" "10" "22" "33673265" "33673265" "subst" "0.000916602" "00006" "LARGE_000009" "g.33673265T>C" "" "{PMID:Godfrey 2007:17878207}" "" "" "found in one patient" "Germline" "" "" "0" "" "" "g.33277279T>C" "" "benign" ""
"0000352609" "0" "10" "22" "33673125" "33673125" "subst" "0.00530904" "00006" "LARGE_000010" "g.33673125C>T" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33277139C>T" "" "benign" ""
"0000352610" "0" "10" "22" "33673010" "33673010" "subst" "0.00906541" "00006" "LARGE_000011" "g.33673010G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33277024G>A" "" "benign" ""
"0000352611" "0" "10" "22" "33670584" "33670584" "subst" "0.0473333" "00006" "LARGE_000012" "g.33670584G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33274598G>A" "" "benign" ""
"0000352612" "0" "10" "22" "34046550" "34046550" "subst" "0.000734018" "00006" "LARGE_000013" "g.34046550C>T" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in one patients" "Germline" "" "" "0" "" "" "g.33650564C>T" "" "benign" ""
"0000352613" "0" "10" "22" "34022284" "34022284" "subst" "0.488449" "00006" "LARGE_000014" "g.34022284G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33626300G>A" "" "benign" ""
"0000352614" "0" "10" "22" "34000484" "34000484" "subst" "0.00199576" "00006" "LARGE_000015" "g.34000484C>T" "" "{PMID:Godfrey 2007:17878207}" "" "" "other disease-associated change in several patients" "Germline" "" "" "0" "" "" "g.33604498C>T" "" "benign" ""
"0000352615" "2" "50" "22" "0" "0" "" "0" "00006" "LARGE_000000" "g.?" "" "" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "" "" "VUS" ""
"0000352616" "1" "50" "22" "33712091" "33712091" "subst" "0.0000122122" "00006" "LARGE_000016" "g.33712091G>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "" "Germline" "" "" "0" "" "" "g.33316105G>A" "" "VUS" ""
"0000352617" "1" "50" "22" "33700305" "33700305" "subst" "0.00000406078" "00006" "LARGE_000018" "g.33700305C>T" "" "{PMID:Godfrey 2007:17878207}" "" "" "" "Germline" "" "" "0" "" "" "g.33304319C>T" "" "VUS" ""
"0000352618" "1" "50" "22" "33679238" "33679238" "subst" "0" "00006" "LARGE_000019" "g.33679238T>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "" "Germline" "" "" "0" "" "" "g.33283252T>A" "" "VUS" ""
"0000352619" "1" "50" "22" "33679238" "33679238" "subst" "0" "00006" "LARGE_000019" "g.33679238T>A" "" "{PMID:Godfrey 2007:17878207}" "" "" "" "Germline" "" "" "0" "" "" "g.33283252T>A" "" "VUS" ""
"0000352620" "2" "50" "22" "34046452" "34046452" "subst" "0" "00006" "LARGE_000021" "g.34046452G>T" "" "{PMID:Godfrey 2007:17878207}" "" "" "" "Germline" "" "" "0" "" "" "g.33650466G>T" "" "VUS" ""
"0000352621" "20" "70" "22" "33700420" "33700420" "subst" "0.0000122096" "00006" "LARGE_000001" "g.33700420C>T" "" "L Medne ASHG 2010 A1669" "" "" "" "Germline" "" "" "0" "" "" "g.33304434C>T" "" "likely pathogenic" ""
"0000352622" "1" "90" "22" "33700397" "33700397" "subst" "0" "00006" "LARGE_000017" "g.33700397G>C" "" "{PMID:Godfrey 2007:17878207}" "" "" "" "Germline" "" "" "0" "" "" "g.33304411G>C" "" "pathogenic" ""
"0000352623" "11" "90" "22" "0" "0" "" "0" "00006" "LARGE_000000" "g.?" "" "L Medne ASHG 2010 A1669" "" "" "76 Kb partial LARGE gene deletion" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000352624" "1" "90" "22" "33700420" "33700420" "subst" "0.0000122096" "00006" "LARGE_000001" "g.33700420C>T" "" "{PMID:Clement 2008:19067344}, {OMIM603590:0001}" "" "Glu509Lys" "" "Germline" "" "" "0" "" "" "g.33304434C>T" "" "pathogenic" ""
"0000352625" "2" "90" "22" "33673120" "33673120" "dup" "0" "00006" "LARGE_000002" "g.33673120dup" "" "{PMID:Clement 2008:19067344}, {OMIM603590:0007}" "" "667fsX" "" "Germline" "" "" "0" "" "" "g.33277134dup" "" "pathogenic" ""
"0000352626" "1" "90" "22" "0" "0" "" "0" "00006" "LARGE_000000" "g.?" "" "{PMID:Clement 2008:19067344}, {OMIM603590:0005}" "" "Gln87fsX" "variant not described, maybe c.259delC" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000352627" "2" "90" "22" "33780191" "33780191" "subst" "0" "00006" "LARGE_000026" "g.33780191G>A" "" "{PMID:Clement 2008:19067344}, {OMIM603590:0006}" "" "Ser331Phe" "" "Germline" "" "" "0" "" "" "g.33384205G>A" "" "pathogenic" ""
"0000352628" "3" "90" "22" "33700462" "33700462" "subst" "0" "00006" "LARGE_000027" "g.33700462A>G" "" "{PMID:Mercuri 2009:19299310}, {OMIM603590:0004}" "" "" "" "Germline" "" "" "0" "" "" "g.33304476A>G" "" "pathogenic" ""
"0000352629" "3" "90" "22" "0" "0" "" "0" "00006" "LARGE_000028" "g.?" "" "{PMID:Clarke 2011:21248746}, {OMIM603590:0008}" "" "" "mapped by linkage; SEQ exons normal; complicated ~3.5Kb deletion/~42 Kb insertion change intron; mRNA fibroblasts, 197/171/0 bp insertion" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000352630" "3" "90" "22" "0" "0" "" "0" "00006" "LARGE_000028" "g.?" "" "{PMID:Clarke 2011:21248746}, {OMIM603590:0008}" "" "" "mapped by linkage; SEQ exons normal; complicated ~3.5Kb deletion/~42 Kb change intron" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000352631" "11" "90" "22" "0" "0" "" "0" "00006" "LARGE_000029" "g.?" "" "{PMID:Vuillaumier-Barrot 2011:21727005}" "" "chr22.hg18:(32355377_32355629)_(32607493_32607638)dup" "252 Kb duplication exon 2-4" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000352632" "21" "90" "22" "33755643" "33800775" "del" "0" "00006" "LARGE_000030" "g.33755643_33800775del" "" "{PMID:Vuillaumier-Barrot 2011:21727005}" "" "871+27358_1132-21850del42152insT" "42 Kb deletion exon 9-10" "Germline" "" "" "0" "" "" "g.33359657_33404789del" "" "pathogenic" ""
"0000352633" "11" "90" "22" "34052982" "34150995" "delins" "0" "00006" "LARGE_000031" "g.34052982_34150995delinsCACAC" "" "{PMID:Vuillaumier-Barrot 2011:21727005}" "" "" "122 Kb deletion exon 4\r\nVariant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000352634" "21" "90" "22" "33871121" "33976199" "delins" "0" "00006" "LARGE_000032" "g.33871121_33976199delinsCAT" "" "{PMID:Vuillaumier-Barrot 2011:21727005}" "" "615+24218_788-42869delinsAATG" "105 Kb deletion exon 7" "Germline" "" "" "0" "" "" "g.33475135_33580213delinsCAT" "" "pathogenic" ""
"0000352639" "0" "30" "22" "34022329" "34022329" "subst" "0.000248673" "00464" "LARGE_000022" "g.34022329G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33626345G>A" "" "likely benign" ""
"0000352640" "0" "30" "22" "34157448" "34157448" "subst" "0" "00464" "LARGE_000024" "g.34157448T>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33761461T>G" "" "likely benign" ""
"0000352641" "0" "50" "22" "33828177" "33828177" "subst" "0" "00464" "LARGE_000023" "g.33828177A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33432191A>G" "" "VUS" ""
"0000352642" "0" "50" "22" "33828177" "33828177" "subst" "0" "00464" "LARGE_000023" "g.33828177A>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33432191A>G" "" "VUS" ""
"0000352643" "0" "50" "22" "33780348" "33780357" "del" "0" "00464" "LARGE_000025" "g.33780348_33780357del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33384362_33384371del" "" "VUS" ""
"0000352644" "3" "50" "22" "33712193" "33712194" "delins" "0" "00464" "LARGE_000020" "g.33712193_33712194delinsAT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.33316207_33316208delinsAT" "" "VUS" ""
"0000352645" "0" "10" "22" "34022284" "34022284" "subst" "0.488449" "00430" "LARGE_000014" "g.34022284G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33626300G>A" "" "benign" ""
"0000352646" "0" "10" "22" "34000460" "34000460" "subst" "0.0236191" "00430" "LARGE_000035" "g.34000460G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33604474G>A" "" "benign" ""
"0000352647" "0" "10" "22" "33828097" "33828097" "subst" "0.00472747" "00430" "LARGE_000036" "g.33828097G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33432111G>A" "" "benign" ""
"0000352648" "0" "10" "22" "33700521" "33700521" "subst" "0.00944977" "00430" "LARGE_000040" "g.33700521G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33304535G>A" "" "benign" ""
"0000352649" "0" "10" "22" "33700397" "33700397" "subst" "0.00616792" "00430" "LARGE_000041" "g.33700397G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33304411G>A" "" "benign" ""
"0000352650" "0" "10" "22" "33679358" "33679358" "subst" "0.0084478" "00430" "LARGE_000042" "g.33679358A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33283372A>G" "" "benign" ""
"0000352651" "0" "10" "22" "33679238" "33679238" "subst" "0.0158938" "00430" "LARGE_000043" "g.33679238T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33283252T>C" "" "benign" ""
"0000352652" "0" "10" "22" "33673170" "33673170" "subst" "0.00471687" "00430" "LARGE_000044" "g.33673170C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33277184C>T" "" "benign" ""
"0000352653" "0" "10" "22" "33673125" "33673125" "subst" "0.00530904" "00430" "LARGE_000010" "g.33673125C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33277139C>T" "" "benign" ""
"0000352654" "0" "10" "22" "33670584" "33670584" "subst" "0.0473333" "00430" "LARGE_000012" "g.33670584G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33274598G>A" "" "benign" ""
"0000352655" "0" "50" "22" "34157494" "34157494" "subst" "0.0113797" "00430" "LARGE_000033" "g.34157494C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33761507C>T" "" "VUS" ""
"0000352656" "0" "50" "22" "34046452" "34046452" "subst" "0.00437293" "00430" "LARGE_000034" "g.34046452G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33650466G>A" "" "VUS" ""
"0000352657" "0" "50" "22" "33777920" "33777920" "subst" "0.0000243748" "00430" "LARGE_000038" "g.33777920G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33381934G>A" "" "VUS" ""
"0000352658" "0" "50" "22" "33733621" "33733621" "subst" "0.0000325998" "00430" "LARGE_000039" "g.33733621G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33337635G>A" "" "VUS" ""
"0000352659" "0" "90" "22" "33777934" "33777934" "subst" "0" "00430" "LARGE_000037" "g.33777934G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.33381948G>A" "" "pathogenic" ""
"0000352660" "21" "90" "22" "33700420" "33700420" "subst" "0.0000122096" "00006" "LARGE_000001" "g.33700420C>T" "" "{PMID:Longman 2003:12966029}, {OMIM603590:0001}" "" "" "" "Germline" "" "" "0" "" "" "g.33304434C>T" "" "pathogenic (recessive)" ""
"0000352698" "3" "90" "22" "33700462" "33700462" "subst" "0" "00006" "LARGE_000027" "g.33700462A>G" "" "{PMID:Mercuri 2009:19299310}" "" "" "" "Germline" "" "" "0" "" "" "g.33304476A>G" "" "pathogenic" ""
"0000438990" "0" "50" "22" "33875161" "33928049" "dup" "0" "03121" "LARGE_000081" "g.(?_33875161)_(33928049_?)dup" "" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000571846" "0" "30" "22" "33673125" "33673125" "subst" "0.00530904" "02326" "LARGE_000010" "g.33673125C>T" "" "" "" "LARGE1(NM_004737.5):c.1994G>A (p.R665H), LARGE1(NM_004737.6):c.1994G>A (p.R665H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33277139C>T" "" "likely benign" ""
"0000571847" "0" "30" "22" "33673125" "33673125" "subst" "0.00530904" "01943" "LARGE_000010" "g.33673125C>T" "" "" "" "LARGE1(NM_004737.5):c.1994G>A (p.R665H), LARGE1(NM_004737.6):c.1994G>A (p.R665H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33277139C>T" "" "likely benign" ""
"0000571848" "0" "30" "22" "33673157" "33673157" "subst" "0.000637781" "01943" "LARGE_000082" "g.33673157C>T" "" "" "" "LARGE1(NM_004737.5):c.1962G>A (p.E654=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33277171C>T" "" "likely benign" ""
"0000571850" "0" "30" "22" "34046370" "34046370" "subst" "0.000556031" "02326" "LARGE_000069" "g.34046370C>T" "" "" "" "LARGE(NM_004737.4):c.391G>A (p.(Val131Ile)), LARGE1(NM_004737.6):c.391G>A (p.V131I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33650384C>T" "" "likely benign" ""
"0000571851" "0" "50" "22" "34046410" "34046410" "subst" "0.0000081704" "01943" "LARGE_000084" "g.34046410G>A" "" "" "" "LARGE1(NM_004737.5):c.351C>T (p.G117=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33650424G>A" "" "VUS" ""
"0000571852" "0" "30" "22" "34046510" "34046510" "subst" "0.00200359" "01804" "LARGE_000085" "g.34046510C>G" "" "" "" "LARGE(NM_004737.4):c.251G>C (p.(Ser84Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33650524C>G" "" "likely benign" ""
"0000571853" "0" "10" "22" "34046596" "34046596" "subst" "0.00350473" "01943" "LARGE_000086" "g.34046596C>G" "" "" "" "LARGE1(NM_004737.5):c.165G>C (p.T55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33650610C>G" "" "benign" ""
"0000597869" "1" "90" "22" "33774511" "34221251" "del" "0" "00006" "LARGE_000087" "g.33774511_34221251del" "" "{PMID:Cummings 2017:28424332}" "" "" "Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "g.33378525_33825263del" "" "pathogenic" ""
"0000597870" "2" "70" "22" "33700305" "33700305" "subst" "0.00000406078" "00006" "LARGE_000018" "g.33700305C>T" "" "{PMID:Cummings 2017:28424332}" "" "" "" "Germline" "" "" "0" "" "" "g.33304319C>T" "" "likely pathogenic" ""
"0000597889" "2" "90" "22" "3774511" "34221251" "del" "0" "00006" "LARGE_000088" "g.(?_3774511)_(34221251_?)del" "" "{PMID:O\'Grady 2017:27159402}" "" "22q12.3(33,774,511-34,221,251)" "" "Germline" "" "" "0" "" "2" "" "" "pathogenic (recessive)" ""
"0000618566" "0" "30" "22" "33673118" "33673118" "subst" "0.000199041" "01943" "LARGE_000089" "g.33673118G>A" "" "" "" "LARGE1(NM_004737.5):c.2001C>T (p.C667=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33277132G>A" "" "likely benign" ""
"0000618567" "0" "50" "22" "33712102" "33712102" "subst" "0.000850008" "01943" "LARGE_000058" "g.33712102C>T" "" "" "" "LARGE1(NM_004737.5):c.1420G>A (p.V474I), LARGE1(NM_004737.6):c.1420G>A (p.V474I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33316116C>T" "" "VUS" ""
"0000618568" "0" "30" "22" "34046597" "34046597" "subst" "0" "01943" "LARGE_000091" "g.34046597G>A" "" "" "" "LARGE1(NM_004737.5):c.164C>T (p.T55M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33650611G>A" "" "likely benign" ""
"0000650959" "1" "30" "22" "33670206" "33670206" "subst" "0" "03575" "LARGE_000092" "g.33670206C>T" "114/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "114 heterozygous; {DB:CLININrs16992036}" "Germline" "" "rs16992036" "0" "" "" "g.33274220C>T" "" "likely benign" ""
"0000650960" "1" "50" "22" "33673125" "33673125" "subst" "0.00530904" "03575" "LARGE_000010" "g.33673125C>T" "11/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 11 heterozygous; {DB:CLININrs1046166}" "Germline" "" "rs1046166" "0" "" "" "g.33277139C>T" "" "VUS" ""
"0000658932" "0" "50" "22" "33700423" "33700423" "subst" "0.0000162896" "02325" "LARGE_000093" "g.33700423C>T" "" "" "" "LARGE1(NM_133642.5):c.1522G>A (p.A508T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.33304437C>T" "" "VUS" ""
"0000669718" "3" "30" "22" "33670206" "33670206" "subst" "0" "03575" "LARGE_000092" "g.33670206C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs16992036}" "Germline" "" "rs16992036" "0" "" "" "g.33274220C>T" "" "likely benign" ""
"0000669719" "3" "50" "22" "33673125" "33673125" "subst" "0.00530904" "03575" "LARGE_000010" "g.33673125C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 homozygous; {DB:CLININrs1046166}" "Germline" "" "rs1046166" "0" "" "" "g.33277139C>T" "" "VUS" ""
"0000681863" "0" "30" "22" "33700483" "33700483" "subst" "0.00000918932" "01943" "LARGE_000094" "g.33700483G>A" "" "" "" "LARGE1(NM_133642.4):c.1462C>T (p.L488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000693168" "0" "30" "22" "33712109" "33712109" "subst" "0.0000325272" "01943" "LARGE_000095" "g.33712109G>T" "" "" "" "LARGE1(NM_133642.4):c.1413C>A (p.S471R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728123" "0" "30" "22" "34046495" "34046495" "subst" "0.00000408467" "01804" "LARGE_000072" "g.34046495C>T" "" "" "" "LARGE(NM_004737.4):c.266G>A (p.(Arg89Gln)), LARGE1(NM_004737.5):c.266G>A (p.R89Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728124" "0" "50" "22" "34046583" "34046583" "subst" "0.000194943" "02329" "LARGE_000074" "g.34046583G>A" "" "" "" "LARGE1(NM_004737.5):c.178C>T (p.R60W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000763209" "3" "70" "22" "33679273" "33679273" "subst" "0.0000162491" "00006" "LARGE_000096" "g.33679273C>T" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PM1, PM2, PP1, PP3" "Germline" "" "" "0" "" "" "g.33283287C>T" "" "likely pathogenic" "ACMG"
"0000809584" "0" "50" "22" "33712182" "33712182" "subst" "0.0000203186" "01943" "LARGE_000097" "g.33712182C>T" "" "" "" "LARGE1(NM_133642.4):c.1340G>A (p.R447Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000809585" "0" "10" "22" "33780307" "33780307" "subst" "0.00113124" "02326" "LARGE_000061" "g.33780307G>C" "" "" "" "LARGE1(NM_004737.5):c.893-17C>G, LARGE1(NM_004737.6):c.893-17C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000809586" "0" "50" "22" "34022259" "34022259" "subst" "0.0000772226" "01943" "LARGE_000098" "g.34022259C>T" "" "" "" "LARGE1(NM_133642.4):c.460G>A (p.V154I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000829774" "11" "50" "22" "33670579" "33670579" "subst" "0.00000406878" "00000" "LARGE_000099" "g.33670579T>A" "" "{PMID:Sudha 2017:28574807}" "" "c.2105A>T (p.Tyr702Phe)" "" "Germline" "?" "" "0" "" "" "g.33274593T>A" "" "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 LARGE
## Count = 126
"{{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}}"
"0000002721" "00024074" "50" "107" "-40003" "107" "-40002" "c.107-40003_107-40002del" "r.(?)" "p.(=)" "3i"
"0000014017" "00024074" "30" "788" "-4484" "788" "-4484" "c.788-4484T>C" "r.(=)" "p.(=)" "7i"
"0000084564" "00024074" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547His)" "13"
"0000084582" "00024074" "90" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547His)" "13"
"0000254270" "00024074" "30" "1008" "0" "1008" "0" "c.1008T>C" "r.(?)" "p.(Asp336=)" ""
"0000254401" "00024074" "30" "90" "0" "90" "0" "c.90T>G" "r.(?)" "p.(Phe30Leu)" ""
"0000282113" "00024074" "30" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Val474Ile)" ""
"0000282114" "00024074" "10" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Asn700=)" ""
"0000282115" "00024074" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Ala145=)" ""
"0000290856" "00024074" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(Tyr516=)" ""
"0000290857" "00024074" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Trp)" ""
"0000290858" "00024074" "50" "1802" "0" "1802" "0" "c.1802G>A" "r.(?)" "p.(Arg601His)" ""
"0000290859" "00024074" "30" "1833" "0" "1833" "0" "c.1833G>A" "r.(?)" "p.(Ala611=)" ""
"0000290860" "00024074" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Arg665Cys)" ""
"0000290861" "00024074" "30" "210" "0" "210" "0" "c.210C>T" "r.(?)" "p.(Arg70=)" ""
"0000290862" "00024074" "10" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(Ser103=)" ""
"0000290863" "00024074" "50" "334" "0" "334" "0" "c.334G>A" "r.(?)" "p.(Glu112Lys)" ""
"0000290864" "00024074" "10" "409" "-19" "409" "-19" "c.409-19C>T" "r.(=)" "p.(=)" ""
"0000290865" "00024074" "30" "615" "10" "615" "10" "c.615+10G>T" "r.(=)" "p.(=)" ""
"0000290866" "00024074" "10" "788" "-29" "788" "-29" "c.788-29A>G" "r.(=)" "p.(=)" ""
"0000290867" "00024074" "10" "893" "-17" "893" "-17" "c.893-17C>G" "r.(=)" "p.(=)" ""
"0000290868" "00024074" "30" "98" "0" "98" "0" "c.98G>A" "r.(?)" "p.(Ser33Asn)" ""
"0000290869" "00024074" "10" "1827" "0" "1827" "0" "c.1827A>G" "r.(?)" "p.(Ser609=)" ""
"0000290870" "00024074" "10" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Asn700=)" ""
"0000290871" "00024074" "30" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Gln)" ""
"0000290872" "00024074" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Ala145=)" ""
"0000290873" "00024074" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Pro192=)" ""
"0000290874" "00024074" "10" "729" "0" "729" "0" "c.729G>A" "r.(?)" "p.(Thr243=)" ""
"0000328987" "00024074" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Arg665Cys)" ""
"0000328988" "00024074" "50" "1706" "0" "1706" "0" "c.1706T>C" "r.(?)" "p.(Met569Thr)" ""
"0000328990" "00024074" "50" "675" "0" "675" "0" "c.675del" "r.(?)" "p.(Val226SerfsTer2)" ""
"0000328991" "00024074" "50" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Val131Ile)" ""
"0000337822" "00024074" "10" "-63" "0" "-63" "0" "c.-63C>T" "r.(?)" "p.(=)" ""
"0000337823" "00024074" "10" "-240" "0" "-240" "0" "c.-240C>T" "r.(?)" "p.(=)" ""
"0000339897" "00024074" "10" "1827" "0" "1827" "0" "c.1827A>G" "r.(?)" "p.(Ser609=)" ""
"0000339898" "00024074" "10" "1788" "0" "1788" "0" "c.1788G>A" "r.(?)" "p.(Ala596=)" ""
"0000339901" "00024074" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(Ala145=)" ""
"0000343818" "00024074" "10" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(Asn700=)" ""
"0000348258" "00024074" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(Pro192=)" ""
"0000349789" "00024074" "90" "1142" "0" "1142" "0" "c.1142G>A" "r.(?)" "p.(Trp381Ter)" ""
"0000352600" "00024074" "90" "1999" "0" "1999" "0" "c.1999dup" "r.(?)" "p.(Cys667Leufs*28)" "15"
"0000352601" "00024074" "10" "893" "-17976" "1132" "-1388" "c.893-17976_1132-1388del" "r.(ex09ex10del)" "p.delfs*?" "8i"
"0000352602" "00024074" "10" "893" "-17976" "1132" "-1388" "c.893-17976_1132-1388del" "r.(ex09ex10del)" "p.delfs*?" "8i"
"0000352603" "00024074" "10" "1092" "0" "1092" "0" "c.1092C>T" "r.(?)" "p.(?)" "10"
"0000352604" "00024074" "10" "1287" "105" "1287" "105" "c.1287+105G>C" "r.(=)" "p.(=)" "11i"
"0000352605" "00024074" "10" "1287" "146" "1287" "146" "c.1287+146C>T" "r.(=)" "p.(=)" "11i"
"0000352606" "00024074" "10" "1451" "38" "1451" "38" "c.1451+38C>T" "r.(?)" "p.(=)" "12i"
"0000352607" "00024074" "10" "-63" "0" "-63" "0" "c.-63C>T" "r.(?)" "p.(=)" "3"
"0000352608" "00024074" "10" "1878" "-24" "1878" "-24" "c.1878-24A>G" "r.(?)" "p.(=)" "14i"
"0000352609" "00024074" "10" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" "15"
"0000352610" "00024074" "10" "2073" "36" "2073" "36" "c.2073+36C>T" "r.(?)" "p.(=)" "15i"
"0000352611" "00024074" "10" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(?)" "16"
"0000352612" "00024074" "10" "211" "0" "211" "0" "c.211G>A" "r.(?)" "p.(Glu71Lys)" "4"
"0000352613" "00024074" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(?)" "5"
"0000352614" "00024074" "10" "552" "0" "552" "0" "c.552G>A" "r.(?)" "p.(?)" "6"
"0000352615" "00024074" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_1_16_"
"0000352616" "00024074" "50" "1431" "0" "1431" "0" "c.1431C>T" "r.(?)" "p.(=)" "12"
"0000352617" "00024074" "50" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547His)" "13"
"0000352618" "00024074" "50" "1827" "0" "1827" "0" "c.1827A>T" "r.(?)" "p.(=)" "14"
"0000352619" "00024074" "50" "1827" "0" "1827" "0" "c.1827A>T" "r.(?)" "p.(=)" "14"
"0000352620" "00024074" "50" "309" "0" "309" "0" "c.309C>A" "r.(?)" "p.(=)" "4"
"0000352621" "00024074" "70" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Glu509Lys)" "13"
"0000352622" "00024074" "90" "1548" "0" "1548" "0" "c.1548C>G" "r.(?)" "p.(Trp516*)" "13"
"0000352623" "00024074" "90" "0" "0" "0" "0" "c.(?)del" "r.?" "p.?" "?"
"0000352624" "00024074" "90" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Glu509Lys)" "13"
"0000352625" "00024074" "90" "1999" "0" "1999" "0" "c.1999dup" "r.(?)" "p.(Cys667Leufs*28)" "15"
"0000352626" "00024074" "90" "0" "0" "0" "0" "c.?" "r.(?)" "p.(Gln87fs*)" "5"
"0000352627" "00024074" "90" "992" "0" "992" "0" "c.992C>T" "r.(?)" "p.(Ser331Phe)" "9"
"0000352628" "00024074" "90" "1483" "0" "1483" "0" "c.1483T>C" "r.(?)" "p.(Trp495Arg)" "13"
"0000352629" "00024074" "90" "1131" "1" "1131" "1" "c.1131+?_1131+?delins" "r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =]" "p.[Val378Leufs*2, =]" "10i"
"0000352630" "00024074" "90" "1131" "1" "1131" "1" "c.1131+?_1131+?delins" "r.[1131_1132insDA935254.1:151_347, 1131_1132insDA935254.1:151_321, =]" "p.[Val378Leufs*2, =]" "10i"
"0000352631" "00024074" "90" "0" "0" "0" "0" "c.-145-(24848_24703)_409-(3319_3067)dup" "c.(-145_408dup)" "p.?" "1i_4i"
"0000352632" "00024074" "90" "893" "-20485" "1132" "-21856" "c.893-20485_1132-21856del" "r.893_1131del" "p.Val299Hisfs*30" "8i_10i"
"0000352633" "00024074" "90" "106" "6363" "408" "-6629" "c.106+6363_408-6629delinsGTGTG" "r.107_408del" "p.Gly367Asnfs*27" "3i_4i"
"0000352634" "00024074" "90" "616" "-15194" "788" "-42870" "c.616-15194_788-42870delinsATG" "r.616_787del" "p.Ser206Valfs*37" "6i_7i"
"0000352639" "00024074" "30" "409" "-19" "409" "-19" "c.409-19C>T" "r.(?)" "p.(=)" "4i"
"0000352640" "00024074" "30" "16" "0" "16" "0" "c.16A>C" "r.(?)" "p.(=)" "3"
"0000352641" "00024074" "50" "862" "0" "862" "0" "c.862T>C" "r.(?)" "p.(Trp288Arg)" "8"
"0000352642" "00024074" "50" "862" "0" "862" "0" "c.862T>C" "r.(?)" "p.(Trp288Arg)" "8"
"0000352643" "00024074" "50" "893" "-64" "893" "-55" "c.893-64_893-55del" "r.(=)" "p.(=)" "8i"
"0000352644" "00024074" "50" "1328" "0" "1329" "0" "c.1328_1329delinsAT" "r.(?)" "p.(Cys443Tyr)" "12"
"0000352645" "00024074" "10" "435" "0" "435" "0" "c.435C>T" "r.(?)" "p.(=)" "5"
"0000352646" "00024074" "10" "576" "0" "576" "0" "c.576C>T" "r.(?)" "p.(=)" "6"
"0000352647" "00024074" "10" "892" "50" "892" "50" "c.892+50C>T" "r.(?)" "p.(=)" "8i"
"0000352648" "00024074" "10" "1452" "-28" "1452" "-28" "c.1452-28C>T" "r.(?)" "p.(=)" "12i"
"0000352649" "00024074" "10" "1548" "0" "1548" "0" "c.1548C>T" "r.(?)" "p.(=)" "13"
"0000352650" "00024074" "10" "1731" "-24" "1731" "-24" "c.1731-24T>C" "r.(?)" "p.(=)" "13i"
"0000352651" "00024074" "10" "1827" "0" "1827" "0" "c.1827A>G" "r.(?)" "p.(=)" "14"
"0000352652" "00024074" "10" "1949" "0" "1949" "0" "c.1949G>A" "r.(?)" "p.(Arg650Gln)" "15"
"0000352653" "00024074" "10" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" "15"
"0000352654" "00024074" "10" "2100" "0" "2100" "0" "c.2100C>T" "r.(?)" "p.(=)" "16"
"0000352655" "00024074" "50" "-31" "0" "-31" "0" "c.-31G>A" "r.(?)" "p.(=)" "3"
"0000352656" "00024074" "50" "309" "0" "309" "0" "c.309C>T" "r.(?)" "p.(=)" "4"
"0000352657" "00024074" "50" "1116" "0" "1116" "0" "c.1116C>T" "r.(?)" "p.(=)" "10"
"0000352658" "00024074" "50" "1287" "11" "1287" "11" "c.1287+11C>T" "r.(?)" "p.(=)" "11i"
"0000352659" "00024074" "90" "1102" "0" "1102" "0" "c.1102C>T" "r.(?)" "p.(Gln368*)" "10"
"0000352660" "00024074" "90" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Glu509Lys)" "13"
"0000352698" "00024074" "90" "1483" "0" "1483" "0" "c.1483T>C" "r.(?)" "p.(trp495Arg)" ""
"0000438990" "00024074" "50" "787" "32785" "788" "-46910" "c.787+32785_788-46910dup" "r.(?)" "p.(=)" ""
"0000571846" "00024074" "30" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" ""
"0000571847" "00024074" "30" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" ""
"0000571848" "00024074" "30" "1962" "0" "1962" "0" "c.1962G>A" "r.(?)" "p.(Glu654=)" ""
"0000571850" "00024074" "30" "391" "0" "391" "0" "c.391G>A" "r.(?)" "p.(Val131Ile)" ""
"0000571851" "00024074" "50" "351" "0" "351" "0" "c.351C>T" "r.(?)" "p.(Gly117=)" ""
"0000571852" "00024074" "30" "251" "0" "251" "0" "c.251G>C" "r.(?)" "p.(Ser84Thr)" ""
"0000571853" "00024074" "10" "165" "0" "165" "0" "c.165G>C" "r.(?)" "p.(Thr55=)" ""
"0000597869" "00024074" "90" "-83" "31477" "1131" "3394" "c.-83+31477_1131+3394del" "r.-82_1131del" "p.?" "2i_10i"
"0000597870" "00024074" "70" "1640" "0" "1640" "0" "c.1640G>A" "r.(?)" "p.(Arg547His)" ""
"0000597889" "00024074" "90" "-83" "31477" "3622" "0" "c.(?_-83+31477)_*1351del" "r.0?" "p.0?" ""
"0000618566" "00024074" "30" "2001" "0" "2001" "0" "c.2001C>T" "r.(?)" "p.(Cys667=)" ""
"0000618567" "00024074" "50" "1420" "0" "1420" "0" "c.1420G>A" "r.(?)" "p.(Val474Ile)" ""
"0000618568" "00024074" "30" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Thr55Met)" ""
"0000650959" "00024074" "30" "2478" "0" "2478" "0" "c.*207G>A" "r.(=)" "p.(=)" ""
"0000650960" "00024074" "50" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" ""
"0000658932" "00024074" "50" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Ala508Thr)" ""
"0000669718" "00024074" "30" "2478" "0" "2478" "0" "c.*207G>A" "r.(=)" "p.(=)" ""
"0000669719" "00024074" "50" "1994" "0" "1994" "0" "c.1994G>A" "r.(?)" "p.(Arg665His)" ""
"0000681863" "00024074" "30" "1462" "0" "1462" "0" "c.1462C>T" "r.(?)" "p.(Leu488=)" ""
"0000693168" "00024074" "30" "1413" "0" "1413" "0" "c.1413C>A" "r.(?)" "p.(Ser471Arg)" ""
"0000728123" "00024074" "30" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89Gln)" ""
"0000728124" "00024074" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Arg60Trp)" ""
"0000763209" "00024074" "70" "1792" "0" "1792" "0" "c.1792G>A" "r.(?)" "p.(Glu598Lys)" ""
"0000809584" "00024074" "50" "1340" "0" "1340" "0" "c.1340G>A" "r.(?)" "p.(Arg447Gln)" ""
"0000809585" "00024074" "10" "893" "-17" "893" "-17" "c.893-17C>G" "r.(=)" "p.(=)" ""
"0000809586" "00024074" "50" "460" "0" "460" "0" "c.460G>A" "r.(?)" "p.(Val154Ile)" ""
"0000829774" "00024074" "50" "2105" "0" "2105" "0" "c.2105A>T" "r.(?)" "p.(Tyr702Phe)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 72
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000002721"
"0000000210" "0000014017"
"0000054614" "0000084564"
"0000054632" "0000084582"
"0000054632" "0000597889"
"0000153467" "0000352600"
"0000153467" "0000352660"
"0000153468" "0000352601"
"0000153469" "0000352602"
"0000153470" "0000352603"
"0000153471" "0000352604"
"0000153472" "0000352605"
"0000153473" "0000352606"
"0000153474" "0000352607"
"0000153475" "0000352608"
"0000153476" "0000352609"
"0000153477" "0000352610"
"0000153478" "0000352611"
"0000153479" "0000352612"
"0000153480" "0000352613"
"0000153481" "0000352614"
"0000153482" "0000352615"
"0000153482" "0000352622"
"0000153483" "0000352616"
"0000153484" "0000352617"
"0000153485" "0000352618"
"0000153486" "0000352619"
"0000153487" "0000352620"
"0000153488" "0000352621"
"0000153488" "0000352623"
"0000153489" "0000352624"
"0000153489" "0000352625"
"0000153490" "0000352626"
"0000153490" "0000352627"
"0000153491" "0000352628"
"0000153492" "0000352629"
"0000153493" "0000352630"
"0000153494" "0000352631"
"0000153494" "0000352632"
"0000153495" "0000352633"
"0000153495" "0000352634"
"0000153500" "0000352639"
"0000153501" "0000352640"
"0000153502" "0000352641"
"0000153502" "0000352642"
"0000153503" "0000352643"
"0000153504" "0000352644"
"0000153505" "0000352645"
"0000153506" "0000352646"
"0000153507" "0000352647"
"0000153508" "0000352648"
"0000153509" "0000352649"
"0000153510" "0000352650"
"0000153511" "0000352651"
"0000153512" "0000352652"
"0000153513" "0000352653"
"0000153514" "0000352654"
"0000153515" "0000352655"
"0000153516" "0000352656"
"0000153517" "0000352657"
"0000153518" "0000352658"
"0000153519" "0000352659"
"0000153547" "0000352698"
"0000208945" "0000438990"
"0000267021" "0000597869"
"0000267021" "0000597870"
"0000294270" "0000650959"
"0000294271" "0000650960"
"0000306030" "0000669718"
"0000306031" "0000669719"
"0000362835" "0000763209"
"0000397707" "0000829774"