### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGA7) # 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}}" "ITGA7" "integrin, alpha 7" "12" "q13" "unknown" "NG_012343.1" "UD_132118468877" "" "https://www.LOVD.nl/ITGA7" "" "1" "6143" "3679" "600536" "1" "1" "1" "1" "This database is one of the gene variant databases from the:

" "" "g" "https://databases.lovd.nl/shared/refseq/ITGA7_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2019-12-30 18:09:22" "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}}" "00010188" "ITGA7" "transcript variant 2" "002" "NM_002206.2" "" "NP_002197.2" "" "" "" "-220" "3904" "3414" "56101686" "56078352" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{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" "00360" "MDC" "dystrophy, muscular, congenital (MDC)" "" "" "" "" "" "00006" "2014-03-21 23:02:36" "00006" "2018-07-03 16:30:02" "03281" "-" "dystrophy, muscular, congenital, due to integrin alpha-7 deficiency" "AR" "613204" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04173" "LVNC" "ventricular noncompaction, left (LVNC)" "" "" "" "" "" "00006" "2015-01-20 15:35:56" "00006" "2015-10-12 17:03:37" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "05126" "LGMD" "dystrophy, muscular, limb-girdle (LGMD)" "" "" "" "" "" "00006" "2016-01-26 06:05:36" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ITGA7" "03281" ## Individuals ## Do not remove or alter this header ## ## Count = 50 "{{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}}" "00150177" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5492" "00210482" "" "" "" "1" "" "00006" "{PMID:Hayashi 1998:9590299}" "" "M" "" "Japan" "" "0" "" "" "" "09590299-Pat1" "00210483" "" "" "" "1" "" "00006" "{PMID:Hayashi 1998:9590299}" "" "F" "" "Japan" "" "0" "" "" "" "09590299-Pat2" "00210484" "" "" "" "1" "" "00006" "{PMID:Hayashi 1998:9590299}" "" "M" "" "Japan" "" "0" "" "" "" "09590299-Pat3" "00210485" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "10923047-p" "00210486" "" "" "" "26" "" "00006" "{PMID:Pirulli 2000:10923047}" "" "" "" "Italy" "" "0" "" "" "" "10923047-c" "00210487" "" "" "" "60" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" "10923047-c" "00210488" "" "" "" "1" "" "00006" "" "30 CMD patients analysed" "" "" "Italy" "" "0" "" "" "" "12057917-PatES" "00210489" "" "" "" "14" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210490" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210491" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210492" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210493" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210494" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210495" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210496" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Italy" "" "0" "" "" "" "12057917-c" "00210497" "" "" "" "1" "" "00006" "{PMID16741161:Rudd" "" "" "" "" "" "0" "" "" "" "" "00210498" "" "" "" "1" "" "00006" "{PMID:Pegoraro 2002:12057917}" "30 CMD patients analysed" "" "" "Italy" "" "0" "" "" "" "12057917-p" "00210499" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210500" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210501" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210502" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210503" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210504" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210505" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210506" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210507" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210508" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210509" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210510" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210511" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210512" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210513" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210514" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210515" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210516" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210517" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210518" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210519" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210520" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210521" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210522" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210523" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00210524" "" "" "" "1" "" "00430" "from website {DBsub-Emory}" "" "" "" "(United States)" "" "0" "" "" "" "Emory-?" "00288988" "" "" "" "1" "" "00006" "{PMID:Punetha 2016:27854218}" "analysis 94 myopathy cases" "" "" "" "" "0" "" "" "" "Pat42" "00290758" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290759" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00305740" "" "" "" "1" "" "00006" "{PMID:Yu 2017:28403181}" "analysis 180 LGMD patients" "F" "" "China" "" "0" "" "" "" "P3" "00362000" "" "" "" "1" "" "00000" "{PMID:Duvvari 2016:27007659}" "patient" "" "" "Netherlands" "" "0" "" "" "white" "Pat3AB" "00446850" "" "" "" "1" "" "00006" "{PMID:Miszalski-Jamka 2017:28798025}" "case not solved" "" "" "" "" "0" "" "" "" "Pat152" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 49 "{{individualid}}" "{{diseaseid}}" "00150177" "00198" "00210482" "00360" "00210483" "00360" "00210484" "00360" "00210485" "00360" "00210486" "00000" "00210487" "00000" "00210488" "00360" "00210489" "00000" "00210490" "00000" "00210491" "00000" "00210492" "00000" "00210493" "00000" "00210494" "00000" "00210495" "00000" "00210496" "00000" "00210498" "00360" "00210499" "00198" "00210500" "00198" "00210501" "00198" "00210502" "00198" "00210503" "00198" "00210504" "00198" "00210505" "00198" "00210506" "00198" "00210507" "00198" "00210508" "00198" "00210509" "00198" "00210510" "00198" "00210511" "00198" "00210512" "00198" "00210513" "00198" "00210514" "00198" "00210515" "00198" "00210516" "00198" "00210517" "00198" "00210518" "00198" "00210519" "00198" "00210520" "00198" "00210521" "00198" "00210522" "00198" "00210523" "00198" "00210524" "00198" "00288988" "05126" "00290758" "00198" "00290759" "00198" "00305740" "05126" "00362000" "04214" "00446850" "04173" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00360, 03281, 04173, 04214, 05126 ## Count = 48 "{{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}}" "0000122579" "00198" "00150177" "00006" "Familial, autosomal recessive" "" "microcephaly, agenesis of corpus callosum, cerebellar hypoplasia, seizures" "" "" "" "" "" "" "" "" "" "" "" "0000159047" "00360" "00210482" "00006" "Isolated (sporadic)" "" "" "" "" "" "IHC/WB no ITGA7; IHC LAMA2/DAG1/SGCA normal, ITGbeta1D mildly reduced" "" "" "" "" "" "congenital muscular dystrophy" "" "0000159048" "00360" "00210483" "00006" "Unknown" "" "" "" "" "" "IHC/WB no ITGA7; IHC LAMA2/DAG1/SGCA normal, ITGbeta1D mildly reduced" "" "" "" "" "" "congenital muscular dystrophy" "" "0000159049" "00360" "00210484" "00006" "Unknown" "" "" "" "" "" "IHC/WB no ITGA7; IHC LAMA2/DAG1/SGCA normal, ITGbeta1D mildly reduced" "" "" "" "" "" "congenital muscular dystrophy" "" "0000159050" "00360" "00210485" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital muscular dystrophy" "" "0000159051" "00000" "00210486" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159052" "00000" "00210487" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159053" "00360" "00210488" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital muscular dystrophy" "" "0000159054" "00000" "00210489" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159055" "00000" "00210490" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159056" "00000" "00210491" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159057" "00000" "00210492" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159058" "00000" "00210493" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159059" "00000" "00210494" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159060" "00000" "00210495" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159061" "00000" "00210496" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000159063" "00360" "00210498" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital muscular dystrophy" "" "0000159064" "00198" "00210499" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159065" "00198" "00210500" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159066" "00198" "00210501" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159067" "00198" "00210502" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159068" "00198" "00210503" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159069" "00198" "00210504" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159070" "00198" "00210505" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159071" "00198" "00210506" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159072" "00198" "00210507" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159073" "00198" "00210508" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159074" "00198" "00210509" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159075" "00198" "00210510" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159076" "00198" "00210511" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159077" "00198" "00210512" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159078" "00198" "00210513" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159079" "00198" "00210514" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159080" "00198" "00210515" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159081" "00198" "00210516" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159082" "00198" "00210517" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159083" "00198" "00210518" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159084" "00198" "00210519" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159085" "00198" "00210520" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159086" "00198" "00210521" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159087" "00198" "00210522" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159088" "00198" "00210523" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000159089" "00198" "00210524" "00430" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "?" "" "0000222623" "05126" "00288988" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "LGMD" "" "0000231586" "05126" "00305740" "00006" "Unknown" "14y" "severe (MRC grade <3/5); lower limbs and upper limbs equally affected; distal weakness; neck flexor weakness (HP:0003722); facial muscles affected; contractures; serum CK max. 160 IU/L; biopsy dystrophic; 　" "2y" "" "" "" "" "" "" "" "" "limb-girdle muscular dystrophy" "" "0000257393" "04214" "00362000" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "age-related macular degeneration, cuticular drusen" "" "0000281585" "00639" "00210497" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "lung cancer" "" "0000336054" "04173" "00446850" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "left ventricular hypertrabeculation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 50 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151032" "00150177" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000211558" "00210482" "1" "00006" "00006" "2010-11-13 16:03:51" "00006" "2012-03-10 12:04:51" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211559" "00210483" "1" "00006" "00006" "2010-11-13 16:03:51" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211560" "00210484" "1" "00006" "00006" "2010-11-13 16:03:51" "00006" "2013-02-01 19:44:12" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000211561" "00210485" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211562" "00210486" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211563" "00210487" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211564" "00210488" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211565" "00210489" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211566" "00210490" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211567" "00210491" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211568" "00210492" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211569" "00210493" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211570" "00210494" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211571" "00210495" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211572" "00210496" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "SEQ" "DNA" "" "" "0000211573" "00210497" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "arraySNP" "DNA" "" "" "0000211574" "00210498" "1" "00006" "00006" "2010-11-14 15:42:16" "00006" "2013-02-01 19:44:12" "RT-PCR;SSCA;SEQ" "DNA;RNA" "" "" "0000211575" "00210499" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211576" "00210500" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211577" "00210501" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211578" "00210502" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211579" "00210503" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211580" "00210504" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211581" "00210505" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211582" "00210506" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211583" "00210507" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211584" "00210508" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211585" "00210509" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211586" "00210510" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211587" "00210511" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211588" "00210512" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211589" "00210513" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211590" "00210514" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211591" "00210515" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211592" "00210516" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211593" "00210517" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211594" "00210518" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211595" "00210519" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211596" "00210520" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211597" "00210521" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211598" "00210522" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211599" "00210523" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000211600" "00210524" "1" "00430" "00006" "2012-10-23 15:45:44" "" "" "SEQ" "DNA" "" "" "0000290156" "00288988" "1" "00006" "00006" "2020-02-24 21:34:22" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000291926" "00290758" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291927" "00290759" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306870" "00305740" "1" "00006" "00006" "2020-07-02 12:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "candidate 420-gene panel" "0000363228" "00362000" "1" "00000" "00006" "2021-04-13 14:21:59" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000448425" "00446850" "1" "00006" "00006" "2024-01-23 17:14:25" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 46 "{{screeningid}}" "{{geneid}}" "0000151032" "ITGA7" "0000211558" "ITGA7" "0000211559" "ITGA7" "0000211560" "ITGA7" "0000211561" "ITGA7" "0000211562" "ITGA7" "0000211563" "ITGA7" "0000211564" "ITGA7" "0000211565" "ITGA7" "0000211566" "ITGA7" "0000211567" "ITGA7" "0000211568" "ITGA7" "0000211569" "ITGA7" "0000211570" "ITGA7" "0000211571" "ITGA7" "0000211572" "ITGA7" "0000211573" "ITGA7" "0000211574" "ITGA7" "0000211575" "ITGA7" "0000211576" "ITGA7" "0000211577" "ITGA7" "0000211578" "ITGA7" "0000211579" "ITGA7" "0000211580" "ITGA7" "0000211581" "ITGA7" "0000211582" "ITGA7" "0000211583" "ITGA7" "0000211584" "ITGA7" "0000211585" "ITGA7" "0000211586" "ITGA7" "0000211587" "ITGA7" "0000211588" "ITGA7" "0000211589" "ITGA7" "0000211590" "ITGA7" "0000211591" "ITGA7" "0000211592" "ITGA7" "0000211593" "ITGA7" "0000211594" "ITGA7" "0000211595" "ITGA7" "0000211596" "ITGA7" "0000211597" "ITGA7" "0000211598" "ITGA7" "0000211599" "ITGA7" "0000211600" "ITGA7" "0000290156" "ITGA7" "0000306870" "ITGA7" ## 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 = 148 "{{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}}" "0000244195" "3" "90" "12" "56101334" "56101335" "ins" "0" "00006" "ITGA7_010001" "g.56101334_56101335insT" "" "{PMID:Karaca 2015:26539891}" "" "NM_001144996: c.132_133insA; p.K44fs" "" "Germline" "" "" "0" "" "" "g.55707550_55707551insT" "" "pathogenic" "" "0000249174" "0" "10" "12" "56091617" "56091617" "subst" "0.622355" "02325" "ITGA7_010013" "g.56091617A>G" "" "" "" "ITGA7(NM_001144996.2):c.1294-11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697833A>G" "" "benign" "" "0000252215" "0" "30" "12" "56081971" "56081971" "subst" "6.09093E-5" "02326" "ITGA7_010003" "g.56081971A>G" "" "" "" "ITGA7(NM_001144996.2):c.3069+15T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55688187A>G" "" "likely benign" "" "0000281579" "0" "10" "12" "56089357" "56089357" "subst" "0.592568" "02325" "ITGA7_010008" "g.56089357C>T" "" "" "" "ITGA7(NM_001144996.2):c.1964G>A (p.R655H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55695573C>T" "" "benign" "" "0000281580" "0" "10" "12" "56088773" "56088773" "subst" "0.592426" "02325" "ITGA7_010006" "g.56088773C>T" "" "" "" "ITGA7(NM_001144996.2):c.2016-19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55694989C>T" "" "benign" "" "0000281581" "0" "10" "12" "56079084" "56079084" "subst" "0.591458" "02325" "ITGA7_010002" "g.56079084C>G" "" "" "" "ITGA7(NM_001144996.2):c.3196-12G>C, ITGA7(NM_002206.3):c.3184-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55685300C>G" "" "benign" "" "0000281582" "0" "10" "12" "56096816" "56096816" "subst" "0.596754" "02325" "ITGA7_010020" "g.56096816T>C" "" "" "" "ITGA7(NM_001144996.2):c.334+19A>G, ITGA7(NM_002206.3):c.334+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55703032T>C" "" "benign" "" "0000285389" "0" "10" "12" "56091709" "56091709" "subst" "0.00159987" "02326" "ITGA7_010014" "g.56091709C>T" "" "" "" "ITGA7(NM_001144996.2):c.1293+13G>A, ITGA7(NM_002206.2):c.1281+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697925C>T" "" "benign" "" "0000285390" "0" "30" "12" "56087068" "56087068" "subst" "0.00209946" "02326" "ITGA7_010004" "g.56087068C>T" "" "" "" "ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55693284C>T" "" "likely benign" "" "0000285391" "0" "10" "12" "56105894" "56105894" "subst" "0.00854718" "02326" "ITGA7_010023" "g.56105894G>A" "" "" "" "ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55712110G>A" "" "benign" "" "0000322898" "0" "30" "12" "56088723" "56088723" "subst" "0.000196925" "01804" "ITGA7_010005" "g.56088723G>T" "" "" "" "ITGA7(NM_001144996.1):c.2047C>A (p.(Leu683Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55694939G>T" "" "likely benign" "" "0000322899" "0" "30" "12" "56089344" "56089344" "subst" "0.0162934" "01804" "ITGA7_010007" "g.56089344A>G" "" "" "" "ITGA7(NM_001144996.1):c.1977T>C (p.(Cys659=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55695560A>G" "" "likely benign" "" "0000322900" "0" "50" "12" "56090189" "56090189" "subst" "0.000362457" "01804" "ITGA7_010009" "g.56090189T>G" "" "" "" "ITGA7(NM_001144996.1):c.1777A>C (p.(Ile593Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55696405T>G" "" "VUS" "" "0000322901" "0" "50" "12" "56090810" "56090810" "subst" "8.13286E-6" "01804" "ITGA7_010010" "g.56090810C>T" "" "" "" "ITGA7(NM_001144996.1):c.1622G>A (p.(Arg541Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697026C>T" "" "VUS" "" "0000322902" "0" "30" "12" "56090811" "56090811" "subst" "0.0015004" "01804" "ITGA7_010011" "g.56090811G>A" "" "" "" "ITGA7(NM_001144996.1):c.1621C>T (p.(Arg541Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55697027G>A" "" "likely benign" "" "0000322905" "0" "30" "12" "56092610" "56092610" "subst" "0.00138575" "01804" "ITGA7_010016" "g.56092610C>T" "" "" "" "ITGA7(NM_001144996.1):c.894G>A (p.(Val298=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55698826C>T" "" "likely benign" "" "0000322906" "0" "30" "12" "56092668" "56092668" "subst" "0.0329251" "01804" "ITGA7_010017" "g.56092668C>T" "" "" "" "ITGA7(NM_001144996.1):c.836G>A (p.(Arg279His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55698884C>T" "" "likely benign" "" "0000322908" "0" "30" "12" "56094816" "56094816" "subst" "0.000779657" "01804" "ITGA7_010019" "g.56094816C>T" "" "" "" "ITGA7(NM_001144996.1):c.537G>A (p.(Gly179=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55701032C>T" "" "likely benign" "" "0000322909" "0" "30" "12" "56096884" "56096884" "subst" "0.0185972" "01804" "ITGA7_010021" "g.56096884C>A" "" "" "" "ITGA7(NM_001144996.1):c.285G>T (p.(Pro95=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55703100C>A" "" "likely benign" "" "0000443142" "21" "90" "12" "56091063" "56091063" "subst" "0" "00006" "ITGA7_000001" "g.56091063T>C" "" "{PMID:Hayashi 1998:09590299}, {OMIM600536:0001}" "" "" "ITGA7 mRNA reduced to 0.1-0.3; not in 200 control chromosomes; de novo, in patient" "De novo" "" "" "0" "" "" "g.55697279T>C" "" "pathogenic (recessive)" "" "0000443143" "11" "90" "12" "56086923" "56086923" "subst" "0" "00006" "ITGA7_000002" "g.56086923A>G" "" "{PMID:Hayashi 1998:09590299}, {OMIM600536:0002}" "" "" "ITGA7 mRNA reduced to 0.1-0.3; described as 98 bp del, but no splice site visible; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.55693139A>G" "" "pathogenic (recessive)" "" "0000443144" "2" "90" "12" "56091800" "56091800" "del" "0" "00006" "ITGA7_000003" "g.56091800del" "" "{PMID:Hayashi 1998:09590299}, {OMIM600536:0003}" "" "1204delG" "ITGA7 mRNA reduced to 0.1-0.3; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.55698016del" "" "pathogenic (recessive)" "" "0000443145" "1" "90" "12" "56086923" "56086923" "subst" "0" "00006" "ITGA7_000002" "g.56086923A>G" "" "{PMID:Hayashi 1998:09590299}, {OMIM600536:0002}" "" "" "ITGA7 mRNA reduced to 0.1-0.3; described as 98 bp del, but no splice site visible; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.55693139A>G" "" "pathogenic (recessive)" "" "0000443146" "1" "90" "12" "0" "0" "" "0" "00006" "ITGA7_000000" "g.?" "" "{PMID:Hayashi 1998:09590299}" "" "" "ITGA7 mRNA reduced to 0.1-0.3; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000443147" "2" "90" "12" "0" "0" "" "0" "00006" "ITGA7_000000" "g.?" "" "{PMID:Hayashi 1998:09590299}" "" "" "ITGA7 mRNA reduced to 0.1-0.3; not in 200 control chromosomes" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000443148" "2" "11" "12" "0" "0" "" "0" "00006" "ITGA7_000005" "g.?" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000443149" "1" "10" "12" "56089357" "56089357" "subst" "0.592568" "00006" "ITGA7_000004" "g.56089357C>T" "" "{PMID:Pirulli 2000:10923047}" "HhaI+" "AJ228850:g.111G>A" "" "Germline" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "benign" "" "0000443150" "1" "10" "12" "56089357" "56089357" "subst" "0.592568" "00006" "ITGA7_000004" "g.56089357C>T" "26/100" "{PMID:Pirulli 2000:10923047}" "HhaI+" "AJ228850:g.111G>A" "14/100 homozygous wildtype" "Germline" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "benign" "" "0000443151" "2" "10" "12" "56089357" "56089357" "subst" "0.592568" "00006" "ITGA7_000004" "g.56089357C>T" "26/100" "{PMID:Pirulli 2000:10923047}" "HhaI+" "AJ228850:g.111G>A" "14/100 homozygous wildtype" "Germline" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "benign" "" "0000443152" "2" "11" "12" "0" "0" "" "0" "00006" "ITGA7_000005" "g.?" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000443153" "1" "10" "12" "56089357" "56089357" "subst" "0.592568" "00006" "ITGA7_000004" "g.56089357C>T" "60/100" "{PMID:Pirulli 2000:10923047}" "HhaI+" "AJ228850:g.111G>A" "14/100 homozygous wildtype" "Germline" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "benign" "" "0000443154" "2" "50" "12" "0" "0" "" "0" "00006" "ITGA7_000000" "g.?" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000443155" "1" "70" "12" "56089340" "56089340" "subst" "0" "00006" "ITGA7_000006" "g.56089340G>C" "1/60" "{PMID:Pegoraro 2002:12057917}" "SmaI-" "" "not in 200 control chromosomes" "Germline" "" "" "0" "" "" "g.55695556G>C" "" "likely pathogenic" "" "0000443156" "0" "70" "12" "56086993" "56086993" "subst" "0.0042397" "00006" "ITGA7_000007" "g.56086993C>T" "14/100" "{PMID:Pegoraro 2002:12057917}" "MseI+" "" "control chromosomes" "Germline" "" "" "0" "" "" "g.55693209C>T" "" "likely pathogenic" "" "0000443157" "0" "10" "12" "56096884" "56096884" "subst" "0.0185972" "00006" "ITGA7_000008" "g.56096884C>A" "" "{PMID:Pegoraro 2002:12057917}" "" "(Pro95Pro)" "" "Germline" "" "" "0" "" "" "g.55703100C>A" "" "benign" "" "0000443158" "0" "10" "12" "56096719" "56096719" "subst" "0" "00006" "ITGA7_000009" "g.56096719T>C" "" "{PMID:Pegoraro 2002:12057917}" "" "351G>A (Glu117Glu)" "" "Germline" "" "" "0" "" "" "g.55702935T>C" "" "benign" "" "0000443159" "0" "10" "12" "56096704" "56096704" "subst" "0" "00006" "ITGA7_000010" "g.56096704C>T" "" "{PMID:Pegoraro 2002:12057917}" "" "366A>G (Gln122Gln)" "" "Germline" "" "" "0" "" "" "g.55702920C>T" "" "benign" "" "0000443160" "0" "10" "12" "56092682" "56092682" "subst" "0.0599665" "00006" "ITGA7_000011" "g.56092682C>T" "" "{PMID:Pegoraro 2002:12057917}" "" "(Gly270Gly)" "" "Germline" "" "rs3847675" "0" "" "" "g.55698898C>T" "" "benign" "" "0000443161" "0" "10" "12" "56088277" "56088277" "subst" "2.84285E-5" "00006" "ITGA7_000012" "g.56088277G>A" "" "{PMID:Pegoraro 2002:12057917}" "" "2307T>C (Ser769Ser)" "" "Germline" "" "" "0" "" "" "g.55694493G>A" "" "benign" "" "0000443162" "0" "10" "12" "56082025" "56082025" "subst" "0.0408558" "00006" "ITGA7_000013" "g.56082025G>C" "" "{PMID:Pegoraro 2002:12057917}" "" "(Ser1006Ser)" "" "Germline" "" "rs17117883" "0" "" "" "g.55688241G>C" "" "benign" "" "0000443163" "0" "10" "12" "56089357" "56089357" "subst" "0.592568" "00006" "ITGA7_000004" "g.56089357C>T" "32/70" "{PMID:Pegoraro 2002:12057917}" "" "" "" "Germline" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "benign" "" "0000443164" "0" "70" "12" "56089357" "56089357" "subst" "0.592568" "00006" "ITGA7_000004" "g.56089357C>T" "" "{PMID16741161:Rudd" "" "" "GWAS risk lung cancer OR 1.10/1.14 (heterozygous/homozygous)" "Germline" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "likely pathogenic" "" "0000443165" "1" "70" "12" "56086993" "56086993" "subst" "0.0042397" "00006" "ITGA7_000007" "g.56086993C>T" "1/60" "{PMID:Pegoraro 2002:12057917}" "MseI+" "" "splice change in 0.40 mRNA" "Germline" "" "" "0" "" "" "g.55693209C>T" "" "likely pathogenic" "" "0000443166" "0" "50" "12" "56101280" "56101280" "subst" "0" "00430" "ITGA7_000020" "g.56101280G>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55707496G>T" "" "VUS" "" "0000443167" "0" "10" "12" "56096884" "56096884" "subst" "0.0185972" "00430" "ITGA7_000008" "g.56096884C>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55703100C>A" "" "benign" "" "0000443168" "0" "10" "12" "56096816" "56096816" "subst" "0.596754" "00430" "ITGA7_000021" "g.56096816T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55703032T>C" "" "benign" "" "0000443169" "0" "10" "12" "56094948" "56094948" "subst" "0.062798" "00430" "ITGA7_000022" "g.56094948G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55701164G>A" "" "benign" "" "0000443170" "0" "10" "12" "56093817" "56093817" "subst" "0.678782" "00430" "ITGA7_000023" "g.56093817T>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55700033T>G" "" "benign" "" "0000443171" "0" "10" "12" "56092682" "56092682" "subst" "0.0599665" "00430" "ITGA7_000011" "g.56092682C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs3847675" "0" "" "" "g.55698898C>T" "" "benign" "" "0000443172" "0" "50" "12" "56092668" "56092668" "subst" "0.0329251" "00430" "ITGA7_000024" "g.56092668C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55698884C>T" "" "VUS" "" "0000443173" "0" "50" "12" "56092610" "56092610" "subst" "0.00138575" "00430" "ITGA7_000025" "g.56092610C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55698826C>T" "" "VUS" "" "0000443174" "0" "10" "12" "56091617" "56091617" "subst" "0.622355" "00430" "ITGA7_000026" "g.56091617A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55697833A>G" "" "benign" "" "0000443175" "0" "50" "12" "56091571" "56091571" "subst" "0.000194937" "00430" "ITGA7_000027" "g.56091571G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55697787G>A" "" "VUS" "" "0000443176" "0" "10" "12" "56090988" "56090988" "subst" "0.00357975" "00430" "ITGA7_000028" "g.56090988G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55697204G>A" "" "benign" "" "0000443177" "0" "50" "12" "56090984" "56090984" "subst" "0.000265875" "00430" "ITGA7_000029" "g.56090984G>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55697200G>C" "" "VUS" "" "0000443178" "0" "10" "12" "56090811" "56090811" "subst" "0.0015004" "00430" "ITGA7_000030" "g.56090811G>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55697027G>A" "" "benign" "" "0000443179" "0" "10" "12" "56090803" "56090803" "subst" "0.00397058" "00430" "ITGA7_000031" "g.56090803C>A" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55697019C>A" "" "benign" "" "0000443180" "0" "10" "12" "56090038" "56090038" "subst" "0.592684" "00430" "ITGA7_000032" "g.56090038C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55696254C>T" "" "benign" "" "0000443181" "0" "10" "12" "56089357" "56089357" "subst" "0.592568" "00430" "ITGA7_000004" "g.56089357C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs1800974" "0" "" "" "g.55695573C>T" "" "benign" "" "0000443182" "0" "50" "12" "56089344" "56089344" "subst" "0.0162934" "00430" "ITGA7_000016" "g.56089344A>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs7971022" "0" "" "" "g.55695560A>G" "" "VUS" "" "0000443183" "0" "10" "12" "56088773" "56088773" "subst" "0.592426" "00430" "ITGA7_000033" "g.56088773C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55694989C>T" "" "benign" "" "0000443184" "0" "10" "12" "56088349" "56088349" "subst" "0.0124809" "00430" "ITGA7_000034" "g.56088349C>T" "" "from website {DBsub-Emory}" "" "2277+50G>A" "" "Unknown" "" "" "0" "" "" "g.55694565C>T" "" "benign" "" "0000443185" "0" "10" "12" "56088206" "56088206" "subst" "0.622482" "00430" "ITGA7_000035" "g.56088206T>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55694422T>C" "" "benign" "" "0000443186" "0" "10" "12" "56087912" "56087912" "subst" "0.0072727" "00430" "ITGA7_000036" "g.56087912C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55694128C>T" "" "benign" "" "0000443187" "0" "10" "12" "56082785" "56082785" "subst" "0.592137" "00430" "ITGA7_000037" "g.56082785C>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55689001C>G" "" "benign" "" "0000443188" "0" "50" "12" "56082106" "56082106" "subst" "8.22571E-5" "00430" "ITGA7_000038" "g.56082106C>T" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55688322C>T" "" "VUS" "" "0000443189" "0" "10" "12" "56082025" "56082025" "subst" "0.0408558" "00430" "ITGA7_000013" "g.56082025G>C" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "rs17117883" "0" "" "" "g.55688241G>C" "" "benign" "" "0000443190" "0" "10" "12" "56081794" "56081794" "subst" "0.00399198" "00430" "ITGA7_000039" "g.56081794C>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55688010C>G" "" "benign" "" "0000443191" "0" "10" "12" "56079084" "56079084" "subst" "0.591458" "00430" "ITGA7_000040" "g.56079084C>G" "" "from website {DBsub-Emory}" "" "" "" "Unknown" "" "" "0" "" "" "g.55685300C>G" "" "benign" "" "0000443192" "0" "50" "12" "56105894" "56105894" "subst" "0.00854718" "00006" "ITGA7_000017" "g.56105894G>A" "0.99" "" "" "" "" "Germline" "" "rs11171663" "0" "" "" "g.55712110G>A" "" "VUS" "" "0000443193" "0" "50" "12" "56088671" "56088671" "subst" "0.000191289" "00006" "ITGA7_000015" "g.56088671G>A" "0.01" "" "" "" "" "Germline" "" "rs76938320" "0" "" "" "g.55694887G>A" "" "VUS" "" "0000443194" "0" "50" "12" "56088477" "56088477" "subst" "0" "00006" "ITGA7_000014" "g.56088477C>T" "0.06-0.07" "" "" "" "" "Germline" "" "rs75740263" "0" "" "" "g.55694693C>T" "" "VUS" "" "0000443195" "0" "50" "12" "56094743" "56094743" "subst" "0.000463381" "00006" "ITGA7_000018" "g.56094743C>T" "0.02" "" "" "" "" "Germline" "" "rs76770808" "0" "" "" "g.55700959C>T" "" "VUS" "" "0000443196" "0" "50" "12" "56094737" "56094737" "subst" "0" "00006" "ITGA7_000019" "g.56094737A>G" "0.08" "" "" "" "" "Germline" "" "rs76261171" "0" "" "" "g.55700953A>G" "" "VUS" "" "0000548651" "0" "30" "12" "56082025" "56082025" "subst" "0.0408558" "01804" "ITGA7_000013" "g.56082025G>C" "" "" "" "ITGA7(NM_001144996.1):c.3030C>G (p.(Ser1010=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55688241G>C" "" "likely benign" "" "0000548652" "0" "30" "12" "56082612" "56082612" "subst" "0.000593067" "01804" "BLOC1S1_000003" "g.56082612C>T" "" "" "" "ITGA7(NM_001144996.1):c.2970+16G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55688828C>T" "" "likely benign" "" "0000548653" "0" "50" "12" "56082681" "56082681" "subst" "3.65497E-5" "01943" "BLOC1S1_000004" "g.56082681G>A" "" "" "" "ITGA7(NM_001144996.1):c.2917C>T (p.R973C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55688897G>A" "" "VUS" "" "0000548654" "0" "30" "12" "56086993" "56086993" "subst" "0.0042397" "01804" "ITGA7_000007" "g.56086993C>T" "" "" "" "ITGA7(NM_001144996.1):c.2656G>A (p.E886K, p.(Glu886Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55693209C>T" "" "likely benign" "" "0000548655" "0" "30" "12" "56087912" "56087912" "subst" "0.0072727" "01804" "ITGA7_000036" "g.56087912C>T" "" "" "" "ITGA7(NM_001144996.1):c.2445-5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55694128C>T" "" "likely benign" "" "0000548656" "0" "90" "12" "56088226" "56088226" "subst" "2.84287E-5" "02327" "BLOC1S1_000005" "g.56088226C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55694442C>T" "" "pathogenic" "" "0000548657" "0" "90" "12" "56088307" "56088307" "subst" "0" "02327" "BLOC1S1_000006" "g.56088307C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55694523C>T" "" "pathogenic" "" "0000548658" "0" "30" "12" "56090168" "56090168" "subst" "0" "01804" "BLOC1S1_000007" "g.56090168T>C" "" "" "" "ITGA7(NM_001144996.1):c.1798A>G (p.(Ser600Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55696384T>C" "" "likely benign" "" "0000548659" "0" "50" "12" "56090795" "56090795" "subst" "2.84458E-5" "01943" "BLOC1S1_000008" "g.56090795C>T" "" "" "" "ITGA7(NM_001144996.1):c.1637G>A (p.R546H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697011C>T" "" "VUS" "" "0000548661" "0" "30" "12" "56090984" "56090984" "subst" "0.000265875" "01804" "ITGA7_000029" "g.56090984G>C" "" "" "" "ITGA7(NM_001144996.1):c.1579+16C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697200G>C" "" "likely benign" "" "0000548663" "0" "30" "12" "56091571" "56091571" "subst" "0.000194937" "01943" "ITGA7_000027" "g.56091571G>A" "" "" "" "ITGA7(NM_001144996.1):c.1329C>T (p.F443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697787G>A" "" "likely benign" "" "0000548664" "0" "30" "12" "56091594" "56091594" "subst" "0" "01804" "BLOC1S1_000009" "g.56091594C>T" "" "" "" "ITGA7(NM_001144996.1):c.1306G>A (p.(Glu436Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55697810C>T" "" "likely benign" "" "0000548665" "0" "30" "12" "56094139" "56094139" "subst" "0" "01804" "BLOC1S1_000010" "g.56094139C>A" "" "" "" "ITGA7(NM_001144996.1):c.709G>T (p.(Asp237Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55700355C>A" "" "likely benign" "" "0000548666" "0" "30" "12" "56096858" "56096858" "subst" "4.06716E-6" "01943" "BLOC1S1_000011" "g.56096858T>A" "" "" "" "ITGA7(NM_001144996.1):c.311A>T (p.Y104F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55703074T>A" "" "likely benign" "" "0000548667" "0" "30" "12" "56105894" "56105894" "subst" "0.00854718" "01804" "ITGA7_000017" "g.56105894G>A" "" "" "" "ITGA7(NM_001144996.1):c.-4428C>T (p.(=)), ITGA7(NM_001144997.1):c.38C>T (p.T13I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55712110G>A" "" "likely benign" "" "0000548668" "0" "30" "12" "56105932" "56105932" "subst" "0.0151783" "01804" "BLOC1S1_000012" "g.56105932A>C" "" "" "" "ITGA7(NM_001144997.1):c.14-14T>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55712148A>C" "" "likely benign" "" "0000614305" "0" "30" "12" "56087068" "56087068" "subst" "0.00209946" "02325" "ITGA7_010004" "g.56087068C>T" "" "" "" "ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55693284C>T" "" "likely benign" "" "0000646780" "1" "50" "12" "56086720" "56086720" "subst" "0" "00006" "ITGA7_010024" "g.56086720G>A" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "Arg918Trp" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55692936G>A" "" "VUS" "" "0000646818" "2" "50" "12" "56092352" "56092352" "subst" "0" "00006" "ITGA7_010025" "g.56092352T>C" "1/94 cases" "{PMID:Punetha 2016:27854218}" "" "" "Variant Error [EMISMATCH/EINVALIDBOUNDARY]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline/De novo (untested)" "" "" "0" "" "" "g.55698568T>C" "" "VUS" "" "0000648615" "1" "50" "12" "56088671" "56088671" "subst" "0.000191289" "03575" "ITGA7_000015" "g.56088671G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs76938320}" "Germline" "" "rs76938320" "0" "" "" "g.55694887G>A" "" "VUS" "" "0000648616" "1" "50" "12" "56090814" "56090814" "subst" "0.000170757" "03575" "ITGA7_010026" "g.56090814G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs149028067}" "Germline" "" "rs149028067" "0" "" "" "g.55697030G>A" "" "VUS" "" "0000670687" "1" "50" "12" "56086936" "56086936" "subst" "0.00294526" "00006" "ITGA7_010027" "g.56086936T>C" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.55693152T>C" "" "VUS" "" "0000670824" "2" "50" "12" "56090126" "56090126" "subst" "0.00300913" "00006" "ITGA7_010028" "g.56090126C>T" "" "{PMID:Yu 2017:28403181}" "" "" "" "Germline" "" "" "0" "" "" "g.55696342C>T" "" "VUS" "" "0000679594" "0" "30" "12" "56086993" "56086993" "subst" "0.0042397" "01943" "ITGA7_000007" "g.56086993C>T" "" "" "" "ITGA7(NM_001144996.1):c.2656G>A (p.E886K, p.(Glu886Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691387" "0" "30" "12" "56091335" "56091335" "del" "0" "01943" "ITGA7_010012" "g.56091335del" "" "" "" "ITGA7(NM_001144996.1):c.1422-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691388" "0" "50" "12" "56094926" "56094926" "subst" "4.88102E-5" "01943" "BLOC1S1_000016" "g.56094926G>A" "" "" "" "ITGA7(NM_001144996.1):c.427C>T (p.R143*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724141" "0" "30" "12" "56088073" "56088073" "subst" "9.35073E-5" "01943" "BLOC1S1_000018" "g.56088073C>T" "" "" "" "ITGA7(NM_001144996.1):c.2411G>A (p.R804H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724142" "0" "30" "12" "56088217" "56088217" "subst" "0" "01943" "BLOC1S1_000019" "g.56088217C>T" "" "" "" "ITGA7(NM_001144996.1):c.2369+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724143" "0" "30" "12" "56090761" "56090761" "subst" "0.00139327" "02326" "BLOC1S1_000015" "g.56090761G>C" "" "" "" "ITGA7(NM_001144996.2):c.1671C>G (p.P557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724144" "0" "30" "12" "56093773" "56093773" "subst" "5.28438E-5" "01943" "BLOC1S1_000020" "g.56093773C>G" "" "" "" "ITGA7(NM_002206.2):c.671G>C (p.G224A), ITGA7(NM_002206.3):c.671G>C (p.(Gly224Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724145" "0" "50" "12" "56101259" "56101259" "subst" "0" "02329" "ITGA7_010022" "g.56101259A>T" "" "" "" "ITGA7(NM_001144996.2):c.206+2T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763718" "0" "50" "12" "56079053" "56079053" "subst" "0.00075999" "00000" "ITGA7_010029" "g.56079053G>A" "" "{PMID:Duvvari 2016:27007659}" "" "2924G>A" "" "Germline" "" "rs139136931" "0" "" "" "g.55685269G>A" "" "VUS" "" "0000805845" "0" "10" "12" "56092364" "56092364" "subst" "0.00220948" "02326" "BLOC1S1_000021" "g.56092364T>C" "" "" "" "ITGA7(NM_002206.3):c.999-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000863060" "0" "30" "12" "56078872" "56078872" "subst" "0.00428767" "01804" "BLOC1S1_000002" "g.56078872G>A" "" "" "" "ITGA7(NM_001144996.1):c.3396C>T (p.(Pro1132=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863061" "0" "70" "12" "56082003" "56082003" "subst" "4.06075E-5" "01804" "BLOC1S1_000024" "g.56082003G>A" "" "" "" "ITGA7(NM_001144996.1):c.3052C>T (p.(Arg1018Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863062" "0" "30" "12" "56082012" "56082012" "subst" "0.00345158" "01804" "BLOC1S1_000025" "g.56082012A>G" "" "" "" "ITGA7(NM_001144996.1):c.3043T>C (p.(Leu1015=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863063" "0" "70" "12" "56082682" "56082682" "dup" "0" "01804" "BLOC1S1_000026" "g.56082682dup" "" "" "" "ITGA7(NM_002206.2):c.2905dup (p.(Arg969ProfsTer153))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000863064" "0" "30" "12" "56087068" "56087068" "subst" "0.00209946" "01804" "ITGA7_010004" "g.56087068C>T" "" "" "" "ITGA7(NM_001144996.1):c.2581G>A (p.(Gly861Ser)), ITGA7(NM_001144996.2):c.2581G>A (p.G861S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863065" "0" "90" "12" "56087868" "56087868" "del" "0" "01943" "BLOC1S1_000027" "g.56087868del" "" "" "" "ITGA7(NM_001144996.1):c.2484delG (p.R829Gfs*167)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863066" "0" "90" "12" "56087869" "56087869" "subst" "0" "01943" "BLOC1S1_000028" "g.56087869A>G" "" "" "" "ITGA7(NM_001144996.1):c.2483T>C (p.V828A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863067" "0" "50" "12" "56087870" "56087870" "subst" "2.84393E-5" "01804" "BLOC1S1_000029" "g.56087870C>A" "" "" "" "ITGA7(NM_001144996.1):c.2482G>T (p.(Val828Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863068" "0" "30" "12" "56091075" "56091075" "subst" "0.000680766" "01804" "BLOC1S1_000030" "g.56091075G>A" "" "" "" "ITGA7(NM_001144996.1):c.1518-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890695" "0" "70" "12" "56101438" "56101438" "dup" "0" "01804" "BLOC1S1_000032" "g.56101438dup" "" "" "" "ITGA7(NM_001144996.1):c.34dup (p.(Ala12Glyfs*91))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000913891" "0" "10" "12" "56079084" "56079084" "subst" "0.591458" "02326" "ITGA7_000040" "g.56079084C>G" "" "" "" "ITGA7(NM_001144996.2):c.3196-12G>C, ITGA7(NM_002206.3):c.3184-12G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913892" "0" "10" "12" "56079358" "56079358" "subst" "0" "02326" "BLOC1S1_000033" "g.56079358A>T" "" "" "" "ITGA7(NM_002206.3):c.3184-286T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913893" "0" "10" "12" "56080148" "56080148" "subst" "0.597132" "02326" "BLOC1S1_000034" "g.56080148T>C" "" "" "" "ITGA7(NM_002206.3):c.3184-1076A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913894" "0" "10" "12" "56080164" "56080164" "subst" "0" "02326" "BLOC1S1_000035" "g.56080164T>G" "" "" "" "ITGA7(NM_002206.3):c.3184-1092A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913895" "0" "30" "12" "56081763" "56081763" "subst" "0" "01804" "BLOC1S1_000036" "g.56081763G>A" "" "" "" "ITGA7(NM_002206.2):c.3175C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913896" "0" "10" "12" "56082520" "56082520" "del" "0" "02326" "BLOC1S1_000037" "g.56082520del" "" "" "" "ITGA7(NM_002206.3):c.2958+121delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913897" "0" "10" "12" "56082785" "56082785" "subst" "0.592137" "02326" "ITGA7_000037" "g.56082785C>G" "" "" "" "ITGA7(NM_002206.3):c.2845-44G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913898" "0" "10" "12" "56087160" "56087160" "del" "0" "02326" "BLOC1S1_000038" "g.56087160del" "" "" "" "ITGA7(NM_002206.3):c.2536-44delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913899" "0" "30" "12" "56093778" "56093778" "subst" "1.22E-5" "01804" "BLOC1S1_000039" "g.56093778G>A" "" "" "" "ITGA7(NM_002206.2):c.671-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913900" "0" "10" "12" "56094948" "56094948" "subst" "0.062798" "02326" "ITGA7_000022" "g.56094948G>A" "" "" "" "ITGA7(NM_002206.3):c.415-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913901" "0" "10" "12" "56095382" "56095382" "del" "0" "02326" "BLOC1S1_000040" "g.56095382del" "" "" "" "ITGA7(NM_002206.3):c.415-430delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913902" "0" "10" "12" "56096816" "56096816" "subst" "0.596754" "02326" "ITGA7_000021" "g.56096816T>C" "" "" "" "ITGA7(NM_001144996.2):c.334+19A>G, ITGA7(NM_002206.3):c.334+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913903" "0" "10" "12" "56097025" "56097025" "subst" "0" "02326" "BLOC1S1_000041" "g.56097025A>C" "" "" "" "ITGA7(NM_002206.3):c.207-63T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000913904" "0" "10" "12" "56101081" "56101081" "subst" "0" "02326" "BLOC1S1_000042" "g.56101081G>C" "" "" "" "ITGA7(NM_002206.3):c.206+180C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000949995" "0" "30" "12" "56094894" "56094894" "subst" "0.00133248" "02326" "BLOC1S1_000043" "g.56094894G>C" "" "" "" "ITGA7(NM_002206.2):c.459C>G (p.(Ile153Met)), ITGA7(NM_002206.3):c.459C>G (p.I153M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949996" "0" "30" "12" "56101421" "56101421" "subst" "0.00141997" "02326" "BLOC1S1_000044" "g.56101421A>C" "" "" "" "ITGA7(NM_002206.2):c.46T>G (p.(Cys16Gly)), ITGA7(NM_002206.3):c.46T>G (p.C16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000957832" "0" "10" "12" "56091335" "56091335" "del" "0" "00006" "ITGA7_010012" "g.56091335del" "" "{PMID:Miszalski-Jamka 2017:28798025}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55697551del" "" "benign" "" "0000980375" "0" "30" "12" "56075840" "56075840" "subst" "0.00386262" "01804" "BLOC1S1_000046" "g.56075840C>T" "" "" "" "METTL7B(NM_152637.3):c.302C>T (p.(Pro101Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980376" "0" "30" "12" "56077691" "56077691" "subst" "0.00039388" "01804" "BLOC1S1_000047" "g.56077691T>C" "" "" "" "METTL7B(NM_152637.3):c.593T>C (p.(Ile198Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980377" "0" "50" "12" "56088579" "56088579" "subst" "8.12645E-6" "01804" "BLOC1S1_000048" "g.56088579G>A" "" "" "" "ITGA7(NM_002206.3):c.2179C>T (p.(Arg727Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980378" "0" "50" "12" "56093773" "56093773" "subst" "5.28438E-5" "01804" "BLOC1S1_000020" "g.56093773C>G" "" "" "" "ITGA7(NM_002206.2):c.671G>C (p.G224A), ITGA7(NM_002206.3):c.671G>C (p.(Gly224Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980379" "0" "50" "12" "56094078" "56094078" "subst" "0" "01804" "BLOC1S1_000049" "g.56094078C>T" "" "" "" "ITGA7(NM_001144996.2):c.770G>A (p.(Arg257His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980380" "0" "50" "12" "56101418" "56101418" "subst" "0" "01804" "BLOC1S1_000050" "g.56101418A>G" "" "" "" "ITGA7(NM_002206.3):c.49T>C (p.(Tyr17His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000229" "0" "70" "12" "56088562" "56088562" "subst" "4.06237E-5" "01804" "BLOC1S1_000051" "g.56088562C>T" "" "" "" "ITGA7(NM_002206.2):c.2196G>A (p.(Ala732Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001000230" "0" "50" "12" "56092320" "56092320" "subst" "0.000227404" "01804" "BLOC1S1_000052" "g.56092320G>A" "" "" "" "ITGA7(NM_002206.2):c.1039C>T (p.(Arg347Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001000231" "0" "90" "12" "56094908" "56094908" "subst" "2.03217E-5" "01804" "BLOC1S1_000053" "g.56094908G>A" "" "" "" "ITGA7(NM_002206.2):c.445C>T (p.(Arg149*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026215" "0" "50" "12" "56088603" "56088603" "subst" "0" "01804" "BLOC1S1_000054" "g.56088603C>T" "" "" "" "ITGA7(NM_002206.2):c.2155G>A (p.(Asp719Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039345" "0" "50" "12" "56081756" "56081756" "subst" "0" "01804" "BLOC1S1_000055" "g.56081756T>G" "" "" "" "ITGA7(NM_002206.2):c.3182A>C (p.(Lys1061Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039346" "0" "30" "12" "56091709" "56091709" "subst" "0.00159987" "01804" "ITGA7_010014" "g.56091709C>T" "" "" "" "ITGA7(NM_001144996.2):c.1293+13G>A, ITGA7(NM_002206.2):c.1281+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039347" "0" "30" "12" "56094894" "56094894" "subst" "0.00133248" "01804" "BLOC1S1_000043" "g.56094894G>C" "" "" "" "ITGA7(NM_002206.2):c.459C>G (p.(Ile153Met)), ITGA7(NM_002206.3):c.459C>G (p.I153M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039348" "0" "30" "12" "56101421" "56101421" "subst" "0.00141997" "01804" "BLOC1S1_000044" "g.56101421A>C" "" "" "" "ITGA7(NM_002206.2):c.46T>G (p.(Cys16Gly)), ITGA7(NM_002206.3):c.46T>G (p.C16G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ITGA7 ## Count = 148 "{{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}}" "0000244195" "00010188" "90" "132" "0" "133" "0" "c.132_133insA" "r.(?)" "p.(Glu45Argfs*58)" "" "0000249174" "00010188" "10" "1282" "-11" "1282" "-11" "c.1282-11T>C" "r.(=)" "p.(=)" "" "0000252215" "00010188" "30" "3057" "15" "3057" "15" "c.3057+15T>C" "r.(=)" "p.(=)" "" "0000281579" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "" "0000281580" "00010188" "10" "2004" "-19" "2004" "-19" "c.2004-19G>A" "r.(=)" "p.(=)" "" "0000281581" "00010188" "10" "3184" "-12" "3184" "-12" "c.3184-12G>C" "r.(=)" "p.(=)" "" "0000281582" "00010188" "10" "334" "19" "334" "19" "c.334+19A>G" "r.(=)" "p.(=)" "" "0000285389" "00010188" "10" "1281" "13" "1281" "13" "c.1281+13G>A" "r.(=)" "p.(=)" "" "0000285390" "00010188" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000285391" "00010188" "10" "-4428" "0" "-4428" "0" "c.-4428C>T" "r.(?)" "p.(=)" "" "0000322898" "00010188" "30" "2035" "0" "2035" "0" "c.2035C>A" "r.(?)" "p.(Leu679Met)" "" "0000322899" "00010188" "30" "1965" "0" "1965" "0" "c.1965T>C" "r.(?)" "p.(Cys655=)" "" "0000322900" "00010188" "50" "1765" "0" "1765" "0" "c.1765A>C" "r.(?)" "p.(Ile589Leu)" "" "0000322901" "00010188" "50" "1610" "0" "1610" "0" "c.1610G>A" "r.(?)" "p.(Arg537Gln)" "" "0000322902" "00010188" "30" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Trp)" "" "0000322905" "00010188" "30" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(Val294=)" "" "0000322906" "00010188" "30" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "" "0000322908" "00010188" "30" "537" "0" "537" "0" "c.537G>A" "r.(?)" "p.(Gly179=)" "" "0000322909" "00010188" "30" "285" "0" "285" "0" "c.285G>T" "r.(?)" "p.(Pro95=)" "" "0000443142" "00010188" "90" "1506" "-2" "1506" "-2" "c.1506-2A>G" "r.1505_1506ins1506-21_1506-1" "p.Cys502delinsWSHLCPRS" "10i" "0000443143" "00010188" "90" "2712" "2" "2712" "2" "c.2712+2T>C" "r.spl" "p.?" "20i" "0000443144" "00010188" "90" "1205" "0" "1205" "0" "c.1205del" "r.(?)" "p.Glu402Valfs*104" "8" "0000443145" "00010188" "90" "2712" "2" "2712" "2" "c.2712+2T>C" "r.spl" "p.?" "20i" "0000443146" "00010188" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1_25" "0000443147" "00010188" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "1_25" "0000443148" "00010188" "11" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_25" "0000443149" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443150" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443151" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443152" "00010188" "11" "0" "0" "0" "0" "c.=" "r.=" "p.=" "_25" "0000443153" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443154" "00010188" "50" "0" "0" "0" "0" "c.?" "r.?" "p.?" "_25" "0000443155" "00010188" "70" "1969" "0" "1969" "0" "c.1969C>G" "r.1969g>c" "p.Arg657Gly" "14" "0000443156" "00010188" "70" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(?)" "21" "0000443157" "00010188" "10" "285" "0" "285" "0" "c.285G>T" "r.(?)" "p.(=)" "2" "0000443158" "00010188" "10" "351" "0" "351" "0" "c.351A>G" "r.(?)" "p.(=)" "3" "0000443159" "00010188" "10" "366" "0" "366" "0" "c.366G>A" "r.(?)" "p.(=)" "3" "0000443160" "00010188" "10" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(=)" "6" "0000443161" "00010188" "10" "2307" "0" "2307" "0" "c.2307C>T" "r.(?)" "p.(=)" "17" "0000443162" "00010188" "10" "3018" "0" "3018" "0" "c.3018C>G" "r.(?)" "p.(=)" "23" "0000443163" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443164" "00010188" "70" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443165" "00010188" "70" "2644" "0" "2644" "0" "c.2644G>A" "r.[2644g>a; 2641_2712del]" "p.[Glu822Lys; Val881_Leu904del]" "21" "0000443166" "00010188" "50" "187" "0" "187" "0" "c.187C>A" "r.(?)" "p.(Gln63Lys)" "1" "0000443167" "00010188" "10" "285" "0" "285" "0" "c.285G>T" "r.(?)" "p.(=)" "2" "0000443168" "00010188" "10" "334" "19" "334" "19" "c.334+19A>G" "r.(?)" "p.(=)" "2i" "0000443169" "00010188" "10" "415" "-10" "415" "-10" "c.415-10C>T" "r.(?)" "p.(=)" "3i" "0000443170" "00010188" "10" "671" "-44" "671" "-44" "c.671-44A>C" "r.(?)" "p.(=)" "4i" "0000443171" "00010188" "10" "810" "0" "810" "0" "c.810G>A" "r.(?)" "p.(=)" "6" "0000443172" "00010188" "50" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275His)" "6" "0000443173" "00010188" "50" "882" "0" "882" "0" "c.882G>A" "r.(?)" "p.(=)" "6" "0000443174" "00010188" "10" "1282" "-11" "1282" "-11" "c.1282-11T>C" "r.(?)" "p.(=)" "8i" "0000443175" "00010188" "50" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(=)" "9" "0000443176" "00010188" "10" "1567" "12" "1567" "12" "c.1567+12C>T" "r.(?)" "p.(=)" "11i" "0000443177" "00010188" "50" "1567" "16" "1567" "16" "c.1567+16C>G" "r.(?)" "p.(=)" "11i" "0000443178" "00010188" "10" "1609" "0" "1609" "0" "c.1609C>T" "r.(?)" "p.(Arg537Trp)" "12" "0000443179" "00010188" "10" "1617" "0" "1617" "0" "c.1617G>T" "r.(?)" "p.(Gln539His)" "12" "0000443180" "00010188" "10" "1887" "29" "1887" "29" "c.1887+29G>A" "r.(?)" "p.(=)" "13i" "0000443181" "00010188" "10" "1952" "0" "1952" "0" "c.1952G>A" "r.(?)" "p.(Arg651His)" "14" "0000443182" "00010188" "50" "1965" "0" "1965" "0" "c.1965T>C" "r.(?)" "p.(=)" "14" "0000443183" "00010188" "10" "2004" "-19" "2004" "-19" "c.2004-19G>A" "r.(?)" "p.(=)" "14i" "0000443184" "00010188" "10" "2278" "-43" "2278" "-43" "c.2278-43G>A" "r.(?)" "p.(=)" "16i" "0000443185" "00010188" "10" "2357" "21" "2357" "21" "c.2357+21A>G" "r.(?)" "p.(=)" "17i" "0000443186" "00010188" "10" "2433" "-5" "2433" "-5" "c.2433-5G>A" "r.(?)" "p.(=)" "18i" "0000443187" "00010188" "10" "2845" "-44" "2845" "-44" "c.2845-44G>C" "r.(?)" "p.(=)" "21i" "0000443188" "00010188" "50" "2959" "-22" "2959" "-22" "c.2959-22G>A" "r.(?)" "p.(=)" "22i" "0000443189" "00010188" "10" "3018" "0" "3018" "0" "c.3018C>G" "r.(?)" "p.(=)" "23" "0000443190" "00010188" "10" "3144" "0" "3144" "0" "c.3144G>C" "r.(?)" "p.(=)" "24" "0000443191" "00010188" "10" "3184" "-12" "3184" "-12" "c.3184-12G>C" "r.(?)" "p.(=)" "24i" "0000443192" "00010188" "50" "-4428" "0" "-4428" "0" "c.-4428C>T" "r.(?)" "p.(Thr139-29Ile)" "_1" "0000443193" "00010188" "50" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Ser696Leu)" "15" "0000443194" "00010188" "50" "2199" "0" "2199" "0" "c.2199G>A" "r.(?)" "p.(=)" "16" "0000443195" "00010188" "50" "610" "0" "610" "0" "c.610G>A" "r.(?)" "p.(Ala204Thr)" "4" "0000443196" "00010188" "50" "616" "0" "616" "0" "c.616T>C" "r.(?)" "p.(Ser206Pro)" "4" "0000548651" "00010188" "30" "3018" "0" "3018" "0" "c.3018C>G" "r.(?)" "p.(Ser1006=)" "" "0000548652" "00010188" "30" "2958" "16" "2958" "16" "c.2958+16G>A" "r.(=)" "p.(=)" "" "0000548653" "00010188" "50" "2905" "0" "2905" "0" "c.2905C>T" "r.(?)" "p.(Arg969Cys)" "" "0000548654" "00010188" "30" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Glu882Lys)" "" "0000548655" "00010188" "30" "2433" "-5" "2433" "-5" "c.2433-5G>A" "r.spl?" "p.?" "" "0000548656" "00010188" "90" "2357" "1" "2357" "1" "c.2357+1G>A" "r.spl?" "p.?" "" "0000548657" "00010188" "90" "2278" "-1" "2278" "-1" "c.2278-1G>A" "r.spl?" "p.?" "" "0000548658" "00010188" "30" "1786" "0" "1786" "0" "c.1786A>G" "r.(?)" "p.(Ser596Gly)" "" "0000548659" "00010188" "50" "1625" "0" "1625" "0" "c.1625G>A" "r.(?)" "p.(Arg542His)" "" "0000548661" "00010188" "30" "1567" "16" "1567" "16" "c.1567+16C>G" "r.(=)" "p.(=)" "" "0000548663" "00010188" "30" "1317" "0" "1317" "0" "c.1317C>T" "r.(?)" "p.(Phe439=)" "" "0000548664" "00010188" "30" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Glu432Lys)" "" "0000548665" "00010188" "30" "671" "-366" "671" "-366" "c.671-366G>T" "r.(=)" "p.(=)" "" "0000548666" "00010188" "30" "311" "0" "311" "0" "c.311A>T" "r.(?)" "p.(Tyr104Phe)" "" "0000548667" "00010188" "30" "-4428" "0" "-4428" "0" "c.-4428C>T" "r.(?)" "p.(=)" "" "0000548668" "00010188" "30" "-4466" "0" "-4466" "0" "c.-4466T>G" "r.(?)" "p.(=)" "" "0000614305" "00010188" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000646780" "00010188" "50" "2752" "0" "2752" "0" "c.2752C>T" "r.(?)" "p.(Pro918Ser)" "" "0000646818" "00010188" "50" "1011" "-4" "1011" "-4" "c.1011-4A>G" "r.spl?" "p.?" "" "0000648615" "00010188" "50" "2087" "0" "2087" "0" "c.2087C>T" "r.(?)" "p.(Ser696Leu)" "" "0000648616" "00010188" "50" "1606" "0" "1606" "0" "c.1606C>T" "r.(?)" "p.(Leu536Phe)" "" "0000670687" "00010188" "50" "2701" "0" "2701" "0" "c.2701A>G" "r.(?)" "p.(Ile901Val)" "" "0000670824" "00010188" "50" "1828" "0" "1828" "0" "c.1828G>A" "r.(?)" "p.(Gly610Arg)" "" "0000679594" "00010188" "30" "2644" "0" "2644" "0" "c.2644G>A" "r.(?)" "p.(Glu882Lys)" "" "0000691387" "00010188" "30" "1410" "-3" "1410" "-3" "c.1410-3del" "r.spl?" "p.?" "" "0000691388" "00010188" "50" "427" "0" "427" "0" "c.427C>T" "r.(?)" "p.(Arg143Ter)" "" "0000724141" "00010188" "30" "2399" "0" "2399" "0" "c.2399G>A" "r.(?)" "p.(Arg800His)" "" "0000724142" "00010188" "30" "2357" "10" "2357" "10" "c.2357+10G>A" "r.(=)" "p.(=)" "" "0000724143" "00010188" "30" "1659" "0" "1659" "0" "c.1659C>G" "r.(?)" "p.(Pro553=)" "" "0000724144" "00010188" "30" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Gly224Ala)" "" "0000724145" "00010188" "50" "206" "2" "206" "2" "c.206+2T>A" "r.spl?" "p.?" "" "0000763718" "00010188" "50" "3203" "0" "3203" "0" "c.3203C>T" "r.(?)" "p.(Ala1062Val)" "" "0000805845" "00010188" "10" "999" "-4" "999" "-4" "c.999-4A>G" "r.spl?" "p.?" "" "0000863060" "00010188" "30" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(Pro1128=)" "" "0000863061" "00010188" "70" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Arg1014Ter)" "" "0000863062" "00010188" "30" "3031" "0" "3031" "0" "c.3031T>C" "r.(?)" "p.(Leu1011=)" "" "0000863063" "00010188" "70" "2905" "0" "2905" "0" "c.2905dup" "r.(?)" "p.(Arg969ProfsTer153)" "" "0000863064" "00010188" "30" "2569" "0" "2569" "0" "c.2569G>A" "r.(?)" "p.(Gly857Ser)" "" "0000863065" "00010188" "90" "2472" "0" "2472" "0" "c.2472del" "r.(?)" "p.(Arg825Glyfs*167)" "" "0000863066" "00010188" "90" "2471" "0" "2471" "0" "c.2471T>C" "r.(?)" "p.(Val824Ala)" "" "0000863067" "00010188" "50" "2470" "0" "2470" "0" "c.2470G>T" "r.(?)" "p.(Val824Leu)" "" "0000863068" "00010188" "30" "1506" "-14" "1506" "-14" "c.1506-14C>T" "r.(=)" "p.(=)" "" "0000890695" "00010188" "70" "34" "0" "34" "0" "c.34dup" "r.(?)" "p.(Ala12Glyfs*91)" "" "0000913891" "00010188" "10" "3184" "-12" "3184" "-12" "c.3184-12G>C" "r.(=)" "p.(=)" "" "0000913892" "00010188" "10" "3184" "-286" "3184" "-286" "c.3184-286T>A" "r.(=)" "p.(=)" "" "0000913893" "00010188" "10" "3184" "-1076" "3184" "-1076" "c.3184-1076A>G" "r.(=)" "p.(=)" "" "0000913894" "00010188" "10" "3184" "-1092" "3184" "-1092" "c.3184-1092A>C" "r.(=)" "p.(=)" "" "0000913895" "00010188" "30" "3175" "0" "3175" "0" "c.3175C>T" "r.(?)" "p.(Leu1059=)" "" "0000913896" "00010188" "10" "2958" "121" "2958" "121" "c.2958+121del" "r.(=)" "p.(=)" "" "0000913897" "00010188" "10" "2845" "-44" "2845" "-44" "c.2845-44G>C" "r.(=)" "p.(=)" "" "0000913898" "00010188" "10" "2536" "-44" "2536" "-44" "c.2536-44del" "r.(=)" "p.(=)" "" "0000913899" "00010188" "30" "671" "-5" "671" "-5" "c.671-5C>T" "r.spl?" "p.?" "" "0000913900" "00010188" "10" "415" "-10" "415" "-10" "c.415-10C>T" "r.(=)" "p.(=)" "" "0000913901" "00010188" "10" "415" "-430" "415" "-430" "c.415-430del" "r.(=)" "p.(=)" "" "0000913902" "00010188" "10" "334" "19" "334" "19" "c.334+19A>G" "r.(=)" "p.(=)" "" "0000913903" "00010188" "10" "207" "-63" "207" "-63" "c.207-63T>G" "r.(=)" "p.(=)" "" "0000913904" "00010188" "10" "206" "180" "206" "180" "c.206+180C>G" "r.(=)" "p.(=)" "" "0000949995" "00010188" "30" "459" "0" "459" "0" "c.459C>G" "r.(?)" "p.(Ile153Met)" "" "0000949996" "00010188" "30" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Cys16Gly)" "" "0000957832" "00010188" "10" "1410" "-3" "1410" "-3" "c.1410-3del" "r.spl?" "p.?" "" "0000980375" "00010188" "30" "6416" "0" "6416" "0" "c.*3002G>A" "r.(=)" "p.(=)" "" "0000980376" "00010188" "30" "4565" "0" "4565" "0" "c.*1151A>G" "r.(=)" "p.(=)" "" "0000980377" "00010188" "50" "2179" "0" "2179" "0" "c.2179C>T" "r.(?)" "p.(Arg727Trp)" "" "0000980378" "00010188" "50" "671" "0" "671" "0" "c.671G>C" "r.(?)" "p.(Gly224Ala)" "" "0000980379" "00010188" "50" "671" "-305" "671" "-305" "c.671-305G>A" "r.(=)" "p.(=)" "" "0000980380" "00010188" "50" "49" "0" "49" "0" "c.49T>C" "r.(?)" "p.(Tyr17His)" "" "0001000229" "00010188" "70" "2196" "0" "2196" "0" "c.2196G>A" "r.(?)" "p.(=)" "" "0001000230" "00010188" "50" "1039" "0" "1039" "0" "c.1039C>T" "r.(?)" "p.(Arg347Cys)" "" "0001000231" "00010188" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149*)" "" "0001026215" "00010188" "50" "2155" "0" "2155" "0" "c.2155G>A" "r.(?)" "p.(Asp719Asn)" "" "0001039345" "00010188" "50" "3182" "0" "3182" "0" "c.3182A>C" "r.(?)" "p.(Lys1061Thr)" "" "0001039346" "00010188" "30" "1281" "13" "1281" "13" "c.1281+13G>A" "r.(=)" "p.(=)" "" "0001039347" "00010188" "30" "459" "0" "459" "0" "c.459C>G" "r.(?)" "p.(Ile153Met)" "" "0001039348" "00010188" "30" "46" "0" "46" "0" "c.46T>G" "r.(?)" "p.(Cys16Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{variantid}}" "0000151032" "0000244195" "0000211558" "0000443142" "0000211558" "0000443143" "0000211559" "0000443144" "0000211559" "0000443145" "0000211560" "0000443146" "0000211560" "0000443147" "0000211561" "0000443148" "0000211561" "0000443149" "0000211562" "0000443150" "0000211562" "0000443151" "0000211563" "0000443152" "0000211563" "0000443153" "0000211564" "0000443154" "0000211564" "0000443155" "0000211565" "0000443156" "0000211566" "0000443157" "0000211567" "0000443158" "0000211568" "0000443159" "0000211569" "0000443160" "0000211570" "0000443161" "0000211571" "0000443162" "0000211572" "0000443163" "0000211573" "0000443164" "0000211574" "0000443165" "0000211575" "0000443166" "0000211576" "0000443167" "0000211577" "0000443168" "0000211578" "0000443169" "0000211579" "0000443170" "0000211580" "0000443171" "0000211581" "0000443172" "0000211582" "0000443173" "0000211583" "0000443174" "0000211584" "0000443175" "0000211585" "0000443176" "0000211586" "0000443177" "0000211587" "0000443178" "0000211588" "0000443179" "0000211589" "0000443180" "0000211590" "0000443181" "0000211591" "0000443182" "0000211592" "0000443183" "0000211593" "0000443184" "0000211594" "0000443185" "0000211595" "0000443186" "0000211596" "0000443187" "0000211597" "0000443188" "0000211598" "0000443189" "0000211599" "0000443190" "0000211600" "0000443191" "0000290156" "0000646780" "0000290156" "0000646818" "0000291926" "0000648615" "0000291927" "0000648616" "0000306870" "0000670687" "0000306870" "0000670824" "0000363228" "0000763718" "0000448425" "0000957832"