### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ITGB4) # 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}}" "ITGB4" "integrin, beta 4" "17" "q11-qter" "unknown" "NG_007372.1" "UD_132084450555" "" "https://www.LOVD.nl/ITGB4" "" "1" "6158" "" "147557" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ITGB4_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-11-14 00:00:00" "00006" "2017-11-09 16:21:49" "00000" "2025-11-01 13:22:20" ## 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}}" "00001750" "ITGB4" "transcript variant 1" "001" "NM_000213.3" "" "NP_000204.3" "" "" "" "-187" "5732" "5469" "73717516" "73753899" "00000" "2012-11-14 17:24:25" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00318" "cancer, breast" "cancer, breast" "" "" "" "" "" "00006" "2014-02-02 14:42:53" "00006" "2019-08-28 08:24:47" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01310" "-" "epidermolysis bullosa, simplex, simplex, Weber-Cockayne type" "AD" "131800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01774" "-" "epidermolysis bullosa, junctional, non-Herlitz type" "AR" "226650" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01777" "-" "epidermolysis bullosa, junctional, with pyloric atresia" "AR" "226730" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05764" "IFAP" "ichthyosis, follicular, with atrichia and photophobia syndrome" "" "" "" "" "" "00006" "2020-06-08 19:40:11" "00006" "2025-09-22 12:54:03" "06886" "HR" "hypophosphataemic rickets" "" "" "" "" "" "00006" "2021-12-18 20:30:38" "00006" "2021-12-18 20:31:29" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ITGB4" "01310" "ITGB4" "01774" "ITGB4" "01777" ## Individuals ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "" "" "00132800" "" "" "" "1" "" "00006" "{PMID:Masunaga 2015:25728941}" "2-generation family, unaffected heterozygous carrier parents" "M" "no" "Japan" ">29y" "0" "" "" "" "25728941-Fam" "00248204" "" "" "" "1" "" "01474" "{PMID:Lhota 2016:26822949}" "analysis 325 breast cancer cases negative for BRCA1/BRCA2/PALB2" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00291845" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291846" "" "" "" "33" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00291847" "" "" "" "164" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304600" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00397337" "" "" "" "1" "" "00006" "{PMID:Gu 2018:29901142}" "" "" "" "China" "" "0" "" "" "" "" "00438711" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0771" "00466847" "" "" "" "1" "" "00006" "{PMID:Migliavacca 2023:37042943}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Brazil" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00132800" "01777" "00248204" "00318" "00291845" "00198" "00291846" "00198" "00291847" "00198" "00304600" "00198" "00397337" "06886" "00438711" "06906" "00466847" "05764" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00318, 01157, 01310, 01774, 01777, 05764, 06886, 06906 ## Count = 5 "{{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" "" "" "" "" "" "" "" "" "" "0000105563" "01777" "00132800" "00006" "Familial, autosomal recessive" "29y" "see paper; ..., pyloric atresia-junctional epidermolysis bullosa syndrome (PA-JEB)" "" "" "" "" "" "" "" "" "" "" "" "0000187213" "00318" "00248204" "01474" "Unknown" "" "35y ductal reast cancer" "35y" "" "" "" "" "" "" "" "" "breast cancer" "" "0000328614" "06906" "00438711" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000352210" "05764" "00466847" "00006" "Isolated (sporadic)" "" "see paper; ..., birth severe cutaneous abnormality with collodion membrane, congenital ichthyosis with taut skin face, eclabium, ectropion, microcephaly, cryptorchidism, flattened rudimentary ears, no scalp hair, no eyebrows, no eyelashes., upper limb malformations, no right hand, bilateral shortening ulna with radius aplasia, fixed elbows, oligodactyly right hand with only fifth digit present, left foot with absence fourth digit" "" "" "" "" "" "" "" "" "IFAP1" "IFAP/BRESHECK" "" ## Screenings ## Do not remove or alter this header ## ## Count = 10 "{{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" "" "" "0000133634" "00132800" "1" "00006" "00006" "2017-11-09 16:18:29" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000249309" "00248204" "1" "01474" "00006" "2015-12-04 13:41:45" "" "" "SEQ-NG-S" "DNA" "blood" "581 gene panel" "0000293013" "00291845" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293014" "00291846" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293015" "00291847" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305729" "00304600" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000398577" "00397337" "1" "00006" "00006" "2021-12-20 15:11:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440193" "00438711" "1" "00006" "00006" "2023-10-21 19:20:17" "00006" "2023-10-21 22:17:41" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000468511" "00466847" "1" "00006" "00006" "2025-09-24 09:33:08" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000133634" "ITGB4" ## 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 = 167 "{{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}}" "0000002671" "3" "50" "17" "73751042" "73751043" "ins" "0" "00037" "ITGB4_000001" "g.73751042_73751043insACAT" "" "" "" "" "" "Germline" "" "" "" "" "" "g.75754961_75754962insACAT" "" "VUS" "" "0000222876" "11" "90" "17" "73723588" "73723588" "subst" "0" "00006" "ITGB4_000002" "g.73723588T>A" "" "{PMID:Masunaga 2015:25728941}" "" "264+2TtoA" "" "Germline" "" "" "0" "" "" "g.75727507T>A" "" "pathogenic" "" "0000222877" "21" "90" "17" "73732344" "73732344" "subst" "0" "00006" "ITGB4_000003" "g.73732344T>A" "" "{PMID:Masunaga 2015:25728941}" "" "1762-25TtoA" "not in 100 control chromosomes; branchpoint variant" "Germline" "" "" "0" "" "" "g.75736263T>A" "" "pathogenic" "" "0000222878" "21" "30" "17" "73732522" "73732522" "subst" "0" "00006" "ITGB4_000004" "g.73732522T>G" "" "{PMID:Masunaga 2015:25728941}" "" "" "" "Germline" "" "" "0" "" "" "g.75736441T>G" "" "likely benign" "" "0000222879" "11" "30" "17" "73732428" "73732428" "subst" "0.0955992" "00006" "ITGB4_000005" "g.73732428G>A" "" "{PMID:Masunaga 2015:25728941}" "" "1821GtoA" "" "Germline" "" "" "0" "" "" "g.75736347G>A" "" "likely benign" "" "0000222880" "0" "10" "17" "73732025" "73732025" "subst" "0" "00006" "ITGB4_000006" "g.73732025C>T" "" "{PMID:Masunaga 2015:25728941}" "" "1658-107CtoT" "" "Germline" "" "" "0" "" "" "g.75735944C>T" "" "benign" "" "0000249571" "0" "30" "17" "73753266" "73753266" "subst" "0.00440399" "02325" "ITGB4_000026" "g.73753266A>G" "" "" "" "ITGB4(NM_000213.5):c.5219-15A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757185A>G" "" "likely benign" "" "0000249572" "0" "30" "17" "73753266" "73753266" "subst" "0.00195733" "02325" "ITGB4_000027" "g.73753266A>T" "" "" "" "ITGB4(NM_000213.5):c.5219-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757185A>T" "" "likely benign" "" "0000249573" "0" "30" "17" "73753651" "73753651" "subst" "0" "02325" "ITGB4_000029" "g.73753651A>C" "" "" "" "ITGB4(NM_000213.5):c.*15A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757570A>C" "" "likely benign" "" "0000281589" "0" "50" "17" "73726590" "73726590" "subst" "2.45678E-5" "02325" "ITGB4_000010" "g.73726590G>A" "" "" "" "ITGB4(NM_000213.5):c.1002+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75730509G>A" "" "VUS" "" "0000281590" "0" "30" "17" "73733421" "73733421" "subst" "0.0020877" "02325" "ITGB4_000012" "g.73733421G>A" "" "" "" "ITGB4(NM_000213.5):c.2009G>A (p.R670H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75737340G>A" "" "likely benign" "" "0000281591" "0" "50" "17" "73738714" "73738714" "subst" "0.000162614" "02325" "ITGB4_000014" "g.73738714G>A" "" "" "" "ITGB4(NM_001005731.3):c.2834G>A (p.R945Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75742633G>A" "" "VUS" "" "0000281592" "0" "30" "17" "73738809" "73738809" "subst" "0.00293118" "02325" "ITGB4_000015" "g.73738809C>T" "" "" "" "ITGB4(NM_000213.5):c.2929C>T (p.R977C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75742728C>T" "" "likely benign" "" "0000281593" "0" "30" "17" "73723799" "73723799" "subst" "7.33879E-5" "02325" "ITGB4_000008" "g.73723799G>A" "" "" "" "ITGB4(NM_000213.5):c.332G>A (p.R111Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75727718G>A" "" "likely benign" "" "0000281594" "0" "30" "17" "73746356" "73746356" "subst" "0.000141302" "02325" "ITGB4_000016" "g.73746356C>T" "" "" "" "ITGB4(NM_000213.5):c.3474+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75750275C>T" "" "likely benign" "" "0000281595" "0" "30" "17" "73748558" "73748558" "subst" "0.00293317" "02325" "ITGB4_000017" "g.73748558C>T" "" "" "" "ITGB4(NM_000213.4):c.4008C>T (p.D1336=), ITGB4(NM_000213.5):c.4008C>T (p.D1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75752477C>T" "" "likely benign" "" "0000281596" "0" "10" "17" "73750859" "73750859" "subst" "0.455836" "02325" "ITGB4_000019" "g.73750859C>G" "" "" "" "ITGB4(NM_000213.5):c.4521C>G (p.P1507=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75754778C>G" "" "benign" "" "0000281597" "0" "10" "17" "73751778" "73751778" "subst" "0.00351707" "02325" "ITGB4_000020" "g.73751778C>G" "" "" "" "ITGB4(NM_000213.5):c.4559-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75755697C>G" "" "benign" "" "0000281598" "0" "90" "17" "73751797" "73751798" "del" "0" "02325" "ITGB4_000021" "g.73751797_73751798del" "" "" "" "ITGB4(NM_000213.5):c.4574_4575delCT (p.A1525Gfs*46)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75755716_75755717del" "" "pathogenic" "" "0000281599" "0" "30" "17" "73753042" "73753042" "subst" "4.08303E-5" "02325" "ITGB4_000024" "g.73753042G>A" "" "" "" "ITGB4(NM_000213.5):c.5072G>A (p.R1691Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75756961G>A" "" "likely benign" "" "0000281600" "0" "90" "17" "73753190" "73753190" "subst" "8.13663E-6" "02325" "ITGB4_000025" "g.73753190T>C" "" "" "" "ITGB4(NM_000213.5):c.5218+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757109T>C" "" "pathogenic" "" "0000281601" "0" "10" "17" "73753503" "73753503" "subst" "0.726301" "02325" "ITGB4_000028" "g.73753503T>C" "" "" "" "ITGB4(NM_000213.5):c.5336T>C (p.L1779P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75757422T>C" "" "benign" "" "0000281602" "0" "10" "17" "73725324" "73725327" "del" "0" "02325" "ITGB4_000009" "g.73725324_73725327del" "" "" "" "ITGB4(NM_000213.5):c.567-22_567-19delTCTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75729243_75729246del" "" "benign" "" "0000285398" "0" "10" "17" "73729660" "73729660" "subst" "0.0135651" "02326" "ITGB4_000011" "g.73729660G>A" "" "" "" "ITGB4(NM_000213.5):c.1544G>A (p.R515H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75733579G>A" "" "benign" "" "0000288173" "0" "30" "17" "73754197" "73754197" "subst" "0.00214815" "01943" "GALK1_000001" "g.73754197G>A" "" "" "" "GALK1(NM_000154.1):c.1119C>T (p.G373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75758116G>A" "" "likely benign" "" "0000288176" "0" "30" "17" "73758831" "73758831" "subst" "0.000341447" "01943" "GALK1_000005" "g.73758831C>T" "" "" "" "GALK1(NM_000154.1):c.747G>A (p.A249=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75762750C>T" "" "likely benign" "" "0000288177" "0" "30" "17" "73758830" "73758830" "subst" "0" "01943" "GALK1_000004" "g.73758830G>A" "" "" "" "GALK1(NM_000154.1):c.748C>T (p.L250=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75762749G>A" "" "likely benign" "" "0000288178" "0" "10" "17" "73754634" "73754634" "subst" "0.00298189" "01943" "GALK1_000003" "g.73754634G>A" "" "" "" "GALK1(NM_000154.1):c.840C>T (p.H280=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75758553G>A" "" "benign" "" "0000288179" "0" "30" "17" "73754411" "73754411" "subst" "0.000572552" "01943" "GALK1_000002" "g.73754411C>T" "" "" "" "GALK1(NM_000154.1):c.987G>A (p.V329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75758330C>T" "" "likely benign" "" "0000289770" "0" "30" "17" "73723366" "73723366" "subst" "0.000277737" "01943" "ITGB4_000007" "g.73723366C>T" "" "" "" "ITGB4(NM_000213.4):c.162+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75727286C>T" "" "likely benign" "" "0000289771" "0" "10" "17" "73738518" "73738518" "subst" "0.00116319" "01943" "ITGB4_000013" "g.73738518C>T" "" "" "" "ITGB4(NM_000213.4):c.2730C>T (p.A910=), ITGB4(NM_000213.5):c.2730C>T (p.A910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75742437C>T" "" "benign" "" "0000289772" "0" "30" "17" "73748558" "73748558" "subst" "0.00293317" "01943" "ITGB4_000017" "g.73748558C>T" "" "" "" "ITGB4(NM_000213.4):c.4008C>T (p.D1336=), ITGB4(NM_000213.5):c.4008C>T (p.D1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75752477C>T" "" "likely benign" "" "0000289773" "0" "50" "17" "73749905" "73749905" "subst" "0" "01943" "ITGB4_000018" "g.73749905T>C" "" "" "" "ITGB4(NM_000213.4):c.4168T>C (p.W1390R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75753824T>C" "" "VUS" "" "0000289774" "0" "30" "17" "73751882" "73751882" "subst" "0.000284677" "01943" "ITGB4_000022" "g.73751882C>T" "" "" "" "ITGB4(NM_000213.4):c.4659C>T (p.C1553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75755801C>T" "" "likely benign" "" "0000289775" "0" "50" "17" "73752687" "73752687" "subst" "4.88826E-5" "01943" "ITGB4_000023" "g.73752687G>A" "" "" "" "ITGB4(NM_000213.4):c.4886G>A (p.C1629Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.75756606G>A" "" "VUS" "" "0000563065" "0" "30" "17" "73723511" "73723511" "subst" "0" "01943" "ITGB4_000031" "g.73723511C>T" "" "" "" "ITGB4(NM_000213.4):c.189C>T (p.T63=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75727430C>T" "" "likely benign" "" "0000563066" "0" "30" "17" "73727976" "73727976" "subst" "1.62674E-5" "01943" "ITGB4_000032" "g.73727976C>G" "" "" "" "ITGB4(NM_000213.4):c.1299C>G (p.N433K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75731895C>G" "" "likely benign" "" "0000563068" "0" "70" "17" "73729758" "73729758" "subst" "0" "02325" "ITGB4_000034" "g.73729758G>A" "" "" "" "ITGB4(NM_000213.5):c.1642G>A (p.G548R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75733677G>A" "" "likely pathogenic" "" "0000563069" "0" "30" "17" "73729779" "73729779" "subst" "0" "01943" "ITGB4_000035" "g.73729779C>T" "" "" "" "ITGB4(NM_000213.4):c.1657+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75733698C>T" "" "likely benign" "" "0000563070" "0" "30" "17" "73732223" "73732223" "subst" "0.000357456" "01943" "ITGB4_000036" "g.73732223C>T" "" "" "" "ITGB4(NM_000213.4):c.1749C>T (p.I583=), ITGB4(NM_000213.5):c.1749C>T (p.I583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75736142C>T" "" "likely benign" "" "0000563071" "0" "30" "17" "73732413" "73732413" "subst" "1.62472E-5" "01943" "ITGB4_000037" "g.73732413C>T" "" "" "" "ITGB4(NM_000213.4):c.1806C>T (p.H602=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75736332C>T" "" "likely benign" "" "0000563072" "0" "30" "17" "73736858" "73736862" "del" "0" "02325" "ITGB4_000038" "g.73736858_73736862del" "" "" "" "ITGB4(NM_000213.5):c.2551-16_2551-12delCTCCC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75740777_75740781del" "" "likely benign" "" "0000563073" "0" "30" "17" "73739848" "73739848" "subst" "0" "01943" "ITGB4_000039" "g.73739848A>T" "" "" "" "ITGB4(NM_000213.4):c.3017A>T (p.Q1006L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75743767A>T" "" "likely benign" "" "0000563074" "0" "50" "17" "73745031" "73745031" "subst" "0.00018839" "01943" "ITGB4_000040" "g.73745031G>A" "" "" "" "ITGB4(NM_000213.4):c.3221G>A (p.R1074H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75748950G>A" "" "VUS" "" "0000563075" "0" "30" "17" "73746884" "73746884" "subst" "0.00204821" "02325" "ITGB4_000041" "g.73746884G>A" "" "" "" "ITGB4(NM_000213.5):c.3598G>A (p.G1200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75750803G>A" "" "likely benign" "" "0000563076" "0" "50" "17" "73747106" "73747106" "subst" "0" "01943" "ITGB4_000042" "g.73747106C>T" "" "" "" "ITGB4(NM_000213.4):c.3707C>T (p.T1236I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75751025C>T" "" "VUS" "" "0000563077" "0" "50" "17" "73748322" "73748322" "subst" "4.47016E-5" "01804" "ITGB4_000043" "g.73748322C>A" "" "" "" "ITGB4(NM_000213.3):c.3861C>A (p.(Asn1287Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75752241C>A" "" "VUS" "" "0000563078" "0" "30" "17" "73748322" "73748322" "subst" "0.00197094" "01943" "ITGB4_000044" "g.73748322C>T" "" "" "" "ITGB4(NM_000213.4):c.3861C>T (p.N1287=), ITGB4(NM_000213.5):c.3861C>T (p.N1287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75752241C>T" "" "likely benign" "" "0000563079" "0" "30" "17" "73750768" "73750768" "subst" "8.12374E-6" "01943" "ITGB4_000045" "g.73750768T>C" "" "" "" "ITGB4(NM_000213.4):c.4430T>C (p.V1477A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75754687T>C" "" "likely benign" "" "0000563080" "0" "30" "17" "73750774" "73750774" "subst" "8.12361E-6" "01943" "ITGB4_000046" "g.73750774A>G" "" "" "" "ITGB4(NM_000213.4):c.4436A>G (p.H1479R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75754693A>G" "" "likely benign" "" "0000563081" "0" "30" "17" "73750847" "73750847" "subst" "0.00263981" "02325" "ITGB4_000047" "g.73750847G>A" "" "" "" "ITGB4(NM_000213.5):c.4509G>A (p.S1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75754766G>A" "" "likely benign" "" "0000563082" "0" "30" "17" "73752819" "73752819" "subst" "3.25722E-5" "01943" "ITGB4_000048" "g.73752819A>G" "" "" "" "ITGB4(NM_000213.4):c.4932A>G (p.P1644=), ITGB4(NM_000213.5):c.4932A>G (p.P1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75756738A>G" "" "likely benign" "" "0000563083" "0" "30" "17" "73753142" "73753142" "subst" "0.000447482" "01943" "ITGB4_000049" "g.73753142C>T" "" "" "" "ITGB4(NM_000213.4):c.5172C>T (p.F1724=), ITGB4(NM_000213.5):c.5172C>T (p.F1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75757061C>T" "" "likely benign" "" "0000578060" "0" "50" "17" "73725444" "73725444" "del" "0" "01474" "ITGB4_000030" "g.73725444del" "" "{PMID:Lhota 2016:26822949}" "" "665delG" "" "Germline" "" "" "0" "" "" "g.75729363del" "" "VUS" "" "0000616817" "0" "50" "17" "73736111" "73736111" "subst" "2.04994E-5" "02325" "ITGB4_000051" "g.73736111G>A" "" "" "" "ITGB4(NM_000213.5):c.2405G>A (p.G802D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75740030G>A" "" "VUS" "" "0000616818" "0" "90" "17" "73751243" "73751243" "subst" "3.67866E-5" "02325" "ITGB4_000052" "g.73751243C>T" "" "" "" "ITGB4(NM_001005619.1):c.4456C>T (p.R1486*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75755162C>T" "" "pathogenic" "" "0000623765" "0" "30" "17" "73727943" "73727943" "subst" "0.000159888" "01943" "ITGB4_000050" "g.73727943C>T" "" "" "" "ITGB4(NM_000213.4):c.1266C>T (p.H422=), ITGB4(NM_000213.5):c.1266C>T (p.H422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75731862C>T" "" "likely benign" "" "0000649702" "1" "30" "17" "73733712" "73733712" "subst" "0.00722231" "03575" "ITGB4_000053" "g.73733712G>T" "6/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "6 heterozygous, no homozygous; {DB:CLININrs143203816}" "Germline" "" "rs143203816" "0" "" "" "g.75737631G>T" "" "likely benign" "" "0000649703" "1" "50" "17" "73738809" "73738809" "subst" "0.00293118" "03575" "ITGB4_000015" "g.73738809C>T" "33/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "33 heterozygous, no homozygous; {DB:CLININrs145976111}" "Germline" "" "rs145976111" "0" "" "" "g.75742728C>T" "" "VUS" "" "0000649704" "1" "30" "17" "73747128" "73747128" "subst" "0.0286306" "03575" "ITGB4_000054" "g.73747128G>A" "164/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "164 heterozygous; {DB:CLININrs61735289}" "Germline" "" "rs61735289" "0" "" "" "g.75751047G>A" "" "likely benign" "" "0000658247" "0" "50" "17" "73753337" "73753337" "subst" "1.22582E-5" "02325" "ITGB4_000055" "g.73753337G>T" "" "" "" "ITGB4(NM_000213.5):c.5275G>T (p.E1759*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.75757256G>T" "" "VUS" "" "0000669417" "3" "30" "17" "73747128" "73747128" "subst" "0.0286306" "03575" "ITGB4_000054" "g.73747128G>A" "2/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs61735289}" "Germline" "" "rs61735289" "0" "" "" "g.75751047G>A" "" "likely benign" "" "0000681018" "0" "50" "17" "73725378" "73725378" "subst" "0.00079998" "02325" "ITGB4_000056" "g.73725378C>T" "" "" "" "ITGB4(NM_000213.3):c.599C>T (p.(Pro200Leu)), ITGB4(NM_000213.5):c.599C>T (p.P200L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681019" "0" "30" "17" "73728300" "73728300" "subst" "0.00237737" "01943" "ITGB4_000057" "g.73728300G>T" "" "" "" "ITGB4(NM_000213.4):c.1434G>T (p.Q478H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681020" "0" "30" "17" "73733421" "73733421" "subst" "0.0020877" "02326" "ITGB4_000012" "g.73733421G>A" "" "" "" "ITGB4(NM_000213.5):c.2009G>A (p.R670H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681021" "0" "50" "17" "73736065" "73736065" "subst" "3.26453E-5" "02325" "ITGB4_000058" "g.73736065C>T" "" "" "" "ITGB4(NM_001005731.3):c.2359C>T (p.R787C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681022" "0" "50" "17" "73748271" "73748271" "subst" "2.84312E-5" "02325" "ITGB4_000059" "g.73748271G>A" "" "" "" "ITGB4(NM_000213.5):c.3810G>A (p.M1270I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000681023" "0" "50" "17" "73754639" "73754639" "subst" "0.000110468" "01943" "ITGB4_000060" "g.73754639G>A" "" "" "" "GALK1(NM_000154.1):c.835C>T (p.R279W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692464" "0" "50" "17" "73736502" "73736502" "subst" "3.66536E-5" "01943" "ITGB4_000061" "g.73736502C>T" "" "" "" "ITGB4(NM_000213.4):c.2510C>T (p.T837I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692465" "0" "30" "17" "73738426" "73738426" "subst" "0.000728565" "01943" "ITGB4_000062" "g.73738426G>A" "" "" "" "ITGB4(NM_000213.4):c.2638G>A (p.D880N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692466" "0" "50" "17" "73746794" "73746794" "subst" "1.62614E-5" "02325" "ITGB4_000063" "g.73746794G>A" "" "" "" "ITGB4(NM_001005731.3):c.3508G>A (p.E1170K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692467" "0" "30" "17" "73748322" "73748322" "subst" "0.00197094" "02326" "ITGB4_000044" "g.73748322C>T" "" "" "" "ITGB4(NM_000213.4):c.3861C>T (p.N1287=), ITGB4(NM_000213.5):c.3861C>T (p.N1287=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692468" "0" "50" "17" "73758812" "73758812" "subst" "0.000199258" "01943" "GALK1_000013" "g.73758812G>A" "" "" "" "GALK1(NM_000154.1):c.766C>T (p.R256W), GALK1(NM_000154.2):c.766C>T (p.(Arg256Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726676" "0" "30" "17" "73723757" "73723757" "subst" "2.93955E-5" "02326" "ITGB4_000064" "g.73723757G>A" "" "" "" "ITGB4(NM_000213.5):c.290G>A (p.R97Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726677" "0" "50" "17" "73758843" "73758843" "subst" "1.21902E-5" "01943" "ITGB4_000065" "g.73758843T>A" "" "" "" "GALK1(NM_000154.1):c.735A>T (p.E245D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808254" "0" "50" "17" "73745034" "73745034" "subst" "0" "01943" "ITGB4_000066" "g.73745034A>C" "" "" "" "ITGB4(NM_000213.4):c.3224A>C (p.Q1075P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808255" "0" "30" "17" "73748601" "73748601" "subst" "6.0934E-5" "01943" "ITGB4_000067" "g.73748601G>A" "" "" "" "ITGB4(NM_000213.4):c.4051G>A (p.D1351N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808256" "0" "50" "17" "73753138" "73753138" "subst" "0" "01943" "ITGB4_000068" "g.73753138G>C" "" "" "" "ITGB4(NM_000213.4):c.5168G>C (p.G1723A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000830791" "0" "50" "17" "73732450" "73732450" "subst" "0" "00006" "ITGB4_000069" "g.73732450G>A" "" "{PMID:Gu 2018:29901142}" "" "" "" "Germline" "" "" "0" "" "" "g.75736369G>A" "" "VUS" "" "0000855091" "0" "10" "17" "73732141" "73732141" "subst" "0.00174433" "02326" "ITGB4_000073" "g.73732141G>A" "" "" "" "ITGB4(NM_000213.5):c.1667G>A (p.R556H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855092" "0" "30" "17" "73732223" "73732223" "subst" "0.000357456" "02326" "ITGB4_000036" "g.73732223C>T" "" "" "" "ITGB4(NM_000213.4):c.1749C>T (p.I583=), ITGB4(NM_000213.5):c.1749C>T (p.I583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855093" "0" "30" "17" "73733620" "73733620" "subst" "0.000818423" "02326" "ITGB4_000074" "g.73733620C>A" "" "" "" "ITGB4(NM_000213.5):c.2115C>A (p.D705E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855094" "0" "50" "17" "73736919" "73736919" "subst" "0" "01804" "ITGB4_000075" "g.73736919C>T" "" "" "" "ITGB4(NM_000213.3):c.2596C>T (p.(Gln866*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855095" "0" "10" "17" "73738518" "73738518" "subst" "0.00116319" "02326" "ITGB4_000013" "g.73738518C>T" "" "" "" "ITGB4(NM_000213.4):c.2730C>T (p.A910=), ITGB4(NM_000213.5):c.2730C>T (p.A910=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855096" "0" "30" "17" "73738587" "73738587" "subst" "0.000739882" "02326" "ITGB4_000076" "g.73738587G>A" "" "" "" "ITGB4(NM_000213.5):c.2782+17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855097" "0" "10" "17" "73738809" "73738809" "subst" "0.00293118" "02326" "ITGB4_000015" "g.73738809C>T" "" "" "" "ITGB4(NM_000213.5):c.2929C>T (p.R977C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855098" "0" "50" "17" "73739911" "73739911" "subst" "2.64178E-5" "01943" "ITGB4_000078" "g.73739911G>A" "" "" "" "ITGB4(NM_000213.4):c.3080G>A (p.R1027H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855099" "0" "30" "17" "73746805" "73746805" "subst" "5.28378E-5" "02326" "ITGB4_000079" "g.73746805G>A" "" "" "" "ITGB4(NM_000213.5):c.3519G>A (p.L1173=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855100" "0" "90" "17" "73747193" "73747193" "subst" "8.1582E-6" "02326" "ITGB4_000080" "g.73747193G>A" "" "" "" "ITGB4(NM_000213.5):c.3793+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000855101" "0" "30" "17" "73748558" "73748558" "subst" "0.00293317" "02326" "ITGB4_000017" "g.73748558C>T" "" "" "" "ITGB4(NM_000213.4):c.4008C>T (p.D1336=), ITGB4(NM_000213.5):c.4008C>T (p.D1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855102" "0" "10" "17" "73751778" "73751778" "subst" "0.00351707" "02326" "ITGB4_000020" "g.73751778C>G" "" "" "" "ITGB4(NM_000213.5):c.4559-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000855103" "0" "30" "17" "73753142" "73753142" "subst" "0.000447482" "02326" "ITGB4_000049" "g.73753142C>T" "" "" "" "ITGB4(NM_000213.4):c.5172C>T (p.F1724=), ITGB4(NM_000213.5):c.5172C>T (p.F1724=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855104" "0" "30" "17" "73753534" "73753534" "subst" "0.00101366" "02326" "ITGB4_000081" "g.73753534C>T" "" "" "" "ITGB4(NM_000213.5):c.5367C>T (p.G1789=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865493" "0" "50" "17" "73726431" "73726431" "subst" "3.65839E-5" "01804" "ITGB4_000070" "g.73726431G>A" "" "" "" "ITGB4(NM_000213.3):c.848G>A (p.(Arg283His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865494" "0" "30" "17" "73726940" "73726940" "subst" "0" "02326" "ITGB4_000071" "g.73726940G>A" "" "" "" "ITGB4(NM_000213.5):c.1003-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865495" "0" "30" "17" "73729649" "73729649" "subst" "0.000422709" "02326" "ITGB4_000072" "g.73729649G>A" "" "" "" "ITGB4(NM_000213.5):c.1533G>A (p.P511=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865496" "0" "30" "17" "73738802" "73738802" "subst" "0.000912962" "02326" "ITGB4_000077" "g.73738802C>T" "" "" "" "ITGB4(NM_000213.5):c.2922C>T (p.L974=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865497" "0" "30" "17" "73752819" "73752819" "subst" "3.25722E-5" "02326" "ITGB4_000048" "g.73752819A>G" "" "" "" "ITGB4(NM_000213.4):c.4932A>G (p.P1644=), ITGB4(NM_000213.5):c.4932A>G (p.P1644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865498" "0" "30" "17" "73754450" "73754450" "subst" "0" "01943" "ITGB4_000082" "g.73754450G>A" "" "" "" "GALK1(NM_000154.1):c.948C>T (p.D316=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894257" "0" "30" "17" "73723854" "73723854" "subst" "0.000158416" "02326" "ITGB4_000083" "g.73723854C>T" "" "" "" "ITGB4(NM_000213.5):c.387C>T (p.P129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894258" "0" "30" "17" "73723940" "73723940" "subst" "0.00101751" "02326" "ITGB4_000084" "g.73723940C>T" "" "" "" "ITGB4(NM_000213.5):c.469+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894259" "0" "30" "17" "73726450" "73726450" "subst" "0.00100382" "02326" "ITGB4_000085" "g.73726450C>T" "" "" "" "ITGB4(NM_000213.5):c.867C>T (p.H289=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894260" "0" "30" "17" "73726605" "73726605" "subst" "8.63899E-5" "02326" "ITGB4_000086" "g.73726605C>G" "" "" "" "ITGB4(NM_000213.5):c.1002+20C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894261" "0" "50" "17" "73727352" "73727352" "subst" "8.13187E-6" "02326" "ITGB4_000087" "g.73727352G>C" "" "" "" "ITGB4(NM_000213.5):c.1118G>C (p.R373P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894262" "0" "30" "17" "73727943" "73727943" "subst" "0.000159888" "02326" "ITGB4_000050" "g.73727943C>T" "" "" "" "ITGB4(NM_000213.4):c.1266C>T (p.H422=), ITGB4(NM_000213.5):c.1266C>T (p.H422=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894263" "0" "30" "17" "73728069" "73728069" "subst" "0.00259069" "02326" "ITGB4_000088" "g.73728069C>T" "" "" "" "ITGB4(NM_000213.5):c.1377+15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894264" "0" "30" "17" "73728072" "73728072" "subst" "0.000436435" "02326" "ITGB4_000089" "g.73728072A>T" "" "" "" "ITGB4(NM_000213.5):c.1377+18A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894265" "0" "30" "17" "73728294" "73728294" "subst" "0.000735581" "02326" "ITGB4_000033" "g.73728294C>T" "" "" "" "ITGB4(NM_000213.5):c.1428C>T (p.(Cys476=), p.C476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894266" "0" "30" "17" "73732412" "73732412" "subst" "0.000264045" "02326" "ITGB4_000090" "g.73732412A>T" "" "" "" "ITGB4(NM_000213.5):c.1805A>T (p.H602L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894267" "0" "30" "17" "73732678" "73732678" "subst" "0.00125372" "02326" "ITGB4_000091" "g.73732678C>G" "" "" "" "ITGB4(NM_000213.5):c.1893C>G (p.S631=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894268" "0" "30" "17" "73732696" "73732696" "subst" "0.000102548" "02326" "ITGB4_000092" "g.73732696G>A" "" "" "" "ITGB4(NM_000213.5):c.1911G>A (p.(Ala637=), p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894269" "0" "50" "17" "73736077" "73736077" "subst" "4.08283E-6" "02325" "ITGB4_000093" "g.73736077C>T" "" "" "" "ITGB4(NM_001005731.3):c.2371C>T (p.R791C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000894270" "0" "30" "17" "73736171" "73736171" "subst" "0" "02326" "ITGB4_000094" "g.73736171G>A" "" "" "" "ITGB4(NM_000213.5):c.2446+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894271" "0" "30" "17" "73746884" "73746884" "subst" "0.00204821" "02326" "ITGB4_000041" "g.73746884G>A" "" "" "" "ITGB4(NM_000213.5):c.3598G>A (p.G1200R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894272" "0" "30" "17" "73750721" "73750721" "subst" "4.06418E-6" "02326" "ITGB4_000095" "g.73750721G>A" "" "" "" "ITGB4(NM_000213.5):c.4383G>A (p.M1461I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894273" "0" "30" "17" "73750755" "73750755" "subst" "0.000812407" "02326" "ITGB4_000096" "g.73750755C>T" "" "" "" "ITGB4(NM_000213.5):c.4417C>T (p.L1473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894274" "0" "30" "17" "73750847" "73750847" "subst" "0.00263981" "02326" "ITGB4_000047" "g.73750847G>A" "" "" "" "ITGB4(NM_000213.5):c.4509G>A (p.S1503=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894275" "0" "30" "17" "73751263" "73751263" "subst" "3.67755E-5" "02326" "ITGB4_000097" "g.73751263T>C" "" "" "" "ITGB4(NM_001005619.1):c.4476T>C (p.A1492=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894276" "0" "90" "17" "73751915" "73751915" "subst" "0" "02326" "ITGB4_000098" "g.73751915C>A" "" "" "" "ITGB4(NM_000213.5):c.4692C>A (p.Y1564*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000894277" "0" "30" "17" "73752789" "73752789" "subst" "0.0018773" "02326" "ITGB4_000099" "g.73752789C>G" "" "" "" "ITGB4(NM_000213.5):c.4902C>G (p.S1634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000894278" "0" "30" "17" "73753575" "73753575" "subst" "0.00119992" "02326" "ITGB4_000100" "g.73753575G>A" "" "" "" "ITGB4(NM_000213.5):c.5408G>A (p.R1803Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914966" "0" "30" "17" "73726443" "73726443" "subst" "2.03234E-5" "02326" "ITGB4_000101" "g.73726443G>A" "" "" "" "ITGB4(NM_000213.5):c.860G>A (p.R287Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914967" "0" "30" "17" "73727009" "73727009" "subst" "0.00177302" "02326" "ITGB4_000102" "g.73727009G>A" "" "" "" "ITGB4(NM_000213.5):c.1056G>A (p.S352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914968" "0" "30" "17" "73752507" "73752507" "del" "0" "02326" "ITGB4_000103" "g.73752507del" "" "" "" "ITGB4(NM_000213.5):c.4709-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914969" "0" "50" "17" "73752603" "73752603" "subst" "2.03224E-5" "02325" "ITGB4_000104" "g.73752603G>A" "" "" "" "ITGB4(NM_001005731.3):c.4592G>A (p.R1531Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926634" "0" "30" "17" "73727468" "73727468" "subst" "0.000515601" "02326" "ITGB4_000105" "g.73727468A>G" "" "" "" "ITGB4(NM_000213.5):c.1215+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000926635" "0" "30" "17" "73748643" "73748643" "subst" "0.00111354" "02326" "ITGB4_000106" "g.73748643G>A" "" "" "" "ITGB4(NM_000213.5):c.4093G>A (p.V1365I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000930883" "0" "30" "17" "73746259" "73746259" "subst" "0.000540444" "02326" "ITGB4_000107" "g.73746259C>T" "" "" "" "ITGB4(NM_000213.5):c.3384C>T (p.G1128=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936351" "0" "50" "17" "73751878" "73751878" "subst" "4.11245E-5" "00006" "ITGB4_000108" "g.73751878G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_001005731:c.G4445A (R1482Q)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000951032" "0" "30" "17" "73723481" "73723481" "subst" "4.48036E-5" "02325" "ITGB4_000109" "g.73723481C>G" "" "" "" "ITGB4(NM_001005731.3):c.163-4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951033" "0" "30" "17" "73738664" "73738664" "subst" "0.000101781" "02326" "ITGB4_000110" "g.73738664C>T" "" "" "" "ITGB4(NM_000213.5):c.2784C>T (p.D928=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951034" "0" "50" "17" "73746267" "73746267" "subst" "0" "02325" "ITGB4_000111" "g.73746267A>G" "" "" "" "ITGB4(NM_001005731.3):c.3392A>G (p.Q1131R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969226" "0" "30" "17" "73728022" "73728022" "subst" "0.000686802" "02326" "ITGB4_000112" "g.73728022G>A" "" "" "" "ITGB4(NM_000213.5):c.1345G>A (p.G449S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969227" "0" "30" "17" "73728061" "73728061" "subst" "0.000504574" "02326" "ITGB4_000113" "g.73728061C>T" "" "" "" "ITGB4(NM_000213.5):c.1377+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969229" "0" "30" "17" "73736128" "73736128" "subst" "0.00114166" "02326" "ITGB4_000114" "g.73736128G>A" "" "" "" "ITGB4(NM_000213.5):c.2422G>A (p.A808T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969230" "0" "50" "17" "73738463" "73738463" "subst" "4.49615E-5" "02325" "ITGB4_000115" "g.73738463G>A" "" "" "" "ITGB4(NM_001005731.3):c.2675G>A (p.R892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969231" "0" "30" "17" "73738798" "73738798" "subst" "0.000400851" "02326" "ITGB4_000116" "g.73738798C>A" "" "" "" "ITGB4(NM_000213.5):c.2918C>A (p.T973N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000969232" "0" "50" "17" "73745114" "73745114" "subst" "4.13172E-6" "02325" "ITGB4_000117" "g.73745114A>C" "" "" "" "ITGB4(NM_001005731.3):c.3304A>C (p.I1102L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982795" "0" "30" "17" "73723553" "73723553" "subst" "5.30443E-5" "02326" "ITGB4_000118" "g.73723553C>T" "" "" "" "ITGB4(NM_000213.5):c.231C>T (p.I77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982796" "0" "30" "17" "73728294" "73728294" "subst" "0.000735581" "01804" "ITGB4_000033" "g.73728294C>T" "" "" "" "ITGB4(NM_000213.5):c.1428C>T (p.(Cys476=), p.C476=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982797" "0" "10" "17" "73732484" "73732484" "subst" "0.000353475" "02326" "ITGB4_000119" "g.73732484C>T" "" "" "" "ITGB4(NM_000213.5):c.1860+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000982798" "0" "30" "17" "73732696" "73732696" "subst" "0.000102548" "01804" "ITGB4_000092" "g.73732696G>A" "" "" "" "ITGB4(NM_000213.5):c.1911G>A (p.(Ala637=), p.A637=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982799" "0" "30" "17" "73736549" "73736549" "subst" "4.09769E-5" "02326" "ITGB4_000120" "g.73736549A>T" "" "" "" "ITGB4(NM_000213.5):c.2550+7A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982800" "0" "30" "17" "73744919" "73744919" "subst" "0.000589899" "02326" "ITGB4_000121" "g.73744919C>T" "" "" "" "ITGB4(NM_000213.5):c.3112-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982801" "0" "90" "17" "73758812" "73758812" "subst" "0.000199258" "01804" "GALK1_000013" "g.73758812G>A" "" "" "" "GALK1(NM_000154.1):c.766C>T (p.R256W), GALK1(NM_000154.2):c.766C>T (p.(Arg256Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001003667" "0" "50" "17" "73725378" "73725378" "subst" "0.00079998" "01804" "ITGB4_000056" "g.73725378C>T" "" "" "" "ITGB4(NM_000213.3):c.599C>T (p.(Pro200Leu)), ITGB4(NM_000213.5):c.599C>T (p.P200L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003668" "0" "30" "17" "73729638" "73729638" "subst" "4.06693E-5" "01804" "ITGB4_000122" "g.73729638G>A" "" "" "" "ITGB4(NM_000213.3):c.1522G>A (p.(Glu508Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003669" "0" "30" "17" "73746317" "73746317" "subst" "0" "01804" "ITGB4_000123" "g.73746317C>G" "" "" "" "ITGB4(NM_000213.3):c.3442C>G (p.(Leu1148Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003670" "0" "30" "17" "73753266" "73753266" "subst" "0.00195733" "02326" "ITGB4_000027" "g.73753266A>T" "" "" "" "ITGB4(NM_000213.5):c.5219-15A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027055" "0" "50" "17" "73748535" "73748535" "subst" "0" "02325" "ITGB4_000124" "g.73748535A>C" "" "" "" "ITGB4(NM_001005731.3):c.3985A>C (p.I1329L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042171" "0" "50" "17" "73724487" "73724487" "subst" "0" "01804" "ITGB4_000125" "g.73724487T>A" "" "" "" "ITGB4(NM_000213.5):c.499T>A (p.(Tyr167Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042172" "0" "30" "17" "73730103" "73730103" "subst" "0" "01804" "ITGB4_000126" "g.73730103G>A" "" "" "" "ITGB4(NM_000213.5):c.1657+330G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042173" "0" "50" "17" "73732740" "73732740" "subst" "0" "01804" "ITGB4_000127" "g.73732740A>G" "" "" "" "ITGB4(NM_000213.5):c.1955A>G (p.(Asn652Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042174" "0" "30" "17" "73733650" "73733650" "subst" "0.000212961" "02326" "ITGB4_000128" "g.73733650C>T" "" "" "" "ITGB4(NM_000213.5):c.2145C>T (p.I715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042175" "0" "50" "17" "73737084" "73737084" "subst" "4.07266E-6" "01804" "ITGB4_000129" "g.73737084A>C" "" "" "" "ITGB4(NM_000213.5):c.2631A>C (p.(Lys877Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042176" "0" "50" "17" "73747101" "73747101" "subst" "2.03227E-5" "01804" "ITGB4_000130" "g.73747101G>A" "" "" "" "ITGB4(NM_000213.5):c.3702G>A (p.(Thr1234=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042177" "0" "90" "17" "73750843" "73750846" "dup" "0" "01804" "ITGB4_000131" "g.73750843_73750846dup" "" "" "" "ITGB4(NM_000213.5):c.4505_4508dup (p.(Thr1504Leufs*69))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001042178" "0" "50" "17" "73754149" "73754149" "subst" "0.000188769" "01804" "ITGB4_000132" "g.73754149C>T" "" "" "" "GALK1(NM_000154.2):c.1167G>A (p.(Val389=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001048347" "1" "70" "17" "73749954" "73749954" "subst" "0" "00006" "ITGB4_000133" "g.73749954G>C" "" "{PMID:Migliavacca 2023:37042943}" "" "" "ACMG PM2, PS2" "Germline" "" "" "0" "" "" "g.75753873G>C" "" "likely pathogenic" "ACMG" "0001048348" "0" "70" "17" "73732725" "73732725" "subst" "9.10448E-5" "00006" "ITGB4_000134" "g.73732725C>T" "" "{PMID:Migliavacca 2023:37042943}" "" "" "ACMG PM2,PS2" "Germline" "" "" "0" "" "" "g.75736644C>T" "" "likely pathogenic" "ACMG" "0001056181" "0" "30" "17" "73725481" "73725481" "subst" "0.0288704" "01804" "ITGB4_000135" "g.73725481C>T" "" "" "" "ITGB4(NM_000213.5):c.702C>T (p.(Gly234=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056182" "0" "50" "17" "73727971" "73727971" "subst" "4.06835E-6" "01804" "ITGB4_000136" "g.73727971G>A" "" "" "" "ITGB4(NM_000213.5):c.1294G>A (p.(Gly432Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056183" "0" "50" "17" "73729701" "73729701" "subst" "0" "01804" "ITGB4_000137" "g.73729701G>A" "" "" "" "ITGB4(NM_000213.5):c.1585G>A (p.(Gly529Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056184" "0" "50" "17" "73732721" "73732721" "subst" "0.000141123" "01804" "ITGB4_000138" "g.73732721C>T" "" "" "" "ITGB4(NM_000213.5):c.1936C>T (p.(Arg646Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056185" "0" "30" "17" "73746355" "73746355" "subst" "0" "01804" "ITGB4_000139" "g.73746355G>T" "" "" "" "ITGB4(NM_000213.5):c.3474+6G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056186" "0" "50" "17" "73749993" "73749993" "subst" "0" "01804" "ITGB4_000140" "g.73749993A>G" "" "" "" "ITGB4(NM_000213.5):c.4256A>G (p.(Asp1419Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056187" "0" "50" "17" "73751928" "73751928" "subst" "0.000140249" "01804" "ITGB4_000141" "g.73751928G>A" "" "" "" "ITGB4(NM_000213.5):c.4705G>A (p.(Gly1569Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ITGB4 ## Count = 167 "{{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}}" "0000002671" "00001750" "50" "4558" "146" "4558" "147" "c.4558+146_4558+147insACAT" "r.(=)" "p.(=)" "" "0000222876" "00001750" "90" "264" "2" "264" "2" "c.264+2T>A" "r.[264_265insgagccug, 264_265ins[ga;264+3_265-1]]" "p.Glu89fs" "4i" "0000222877" "00001750" "90" "1762" "-25" "1762" "-25" "c.1762-25T>A" "r.[1761_1762ins[1761+1762-26;a;1762-24_1762-1];1860_1861ins[1860+1_1860+54;g;1860+56_1861-1], 1761_1762ins[1761+1762-26;a;1762-24_1762-1]]" "p.Gly885fs" "14i" "0000222878" "00001750" "30" "1860" "55" "1860" "55" "c.1860+55T>G" "r.(=)" "p.(=)" "15i" "0000222879" "00001750" "30" "1821" "0" "1821" "0" "c.1821G>A" "r.1821g>a" "p.Ser607=" "15" "0000222880" "00001750" "10" "1658" "-107" "1658" "-107" "c.1658-107C>T" "r.=" "p.=" "13i" "0000249571" "00001750" "30" "5219" "-15" "5219" "-15" "c.5219-15A>G" "r.(=)" "p.(=)" "" "0000249572" "00001750" "30" "5219" "-15" "5219" "-15" "c.5219-15A>T" "r.(=)" "p.(=)" "" "0000249573" "00001750" "30" "5484" "0" "5484" "0" "c.*15A>C" "r.(=)" "p.(=)" "" "0000281589" "00001750" "50" "1002" "5" "1002" "5" "c.1002+5G>A" "r.spl?" "p.?" "" "0000281590" "00001750" "30" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Arg670His)" "" "0000281591" "00001750" "50" "2834" "0" "2834" "0" "c.2834G>A" "r.(?)" "p.(Arg945Gln)" "" "0000281592" "00001750" "30" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Arg977Cys)" "" "0000281593" "00001750" "30" "332" "0" "332" "0" "c.332G>A" "r.(?)" "p.(Arg111Gln)" "" "0000281594" "00001750" "30" "3474" "7" "3474" "7" "c.3474+7C>T" "r.(=)" "p.(=)" "" "0000281595" "00001750" "30" "4008" "0" "4008" "0" "c.4008C>T" "r.(?)" "p.(Asp1336=)" "" "0000281596" "00001750" "10" "4521" "0" "4521" "0" "c.4521C>G" "r.(?)" "p.(Pro1507=)" "" "0000281597" "00001750" "10" "4559" "-4" "4559" "-4" "c.4559-4C>G" "r.spl?" "p.?" "" "0000281598" "00001750" "90" "4574" "0" "4575" "0" "c.4574_4575del" "r.(?)" "p.(Ala1525GlyfsTer46)" "" "0000281599" "00001750" "30" "5072" "0" "5072" "0" "c.5072G>A" "r.(?)" "p.(Arg1691Gln)" "" "0000281600" "00001750" "90" "5218" "2" "5218" "2" "c.5218+2T>C" "r.spl?" "p.?" "" "0000281601" "00001750" "10" "5336" "0" "5336" "0" "c.5336T>C" "r.(?)" "p.(Leu1779Pro)" "" "0000281602" "00001750" "10" "567" "-22" "567" "-19" "c.567-22_567-19del" "r.(=)" "p.(=)" "" "0000285398" "00001750" "10" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515His)" "" "0000288173" "00001750" "30" "6030" "0" "6030" "0" "c.*561G>A" "r.(=)" "p.(=)" "" "0000288176" "00001750" "30" "10664" "0" "10664" "0" "c.*5195C>T" "r.(=)" "p.(=)" "" "0000288177" "00001750" "30" "10663" "0" "10663" "0" "c.*5194G>A" "r.(=)" "p.(=)" "" "0000288178" "00001750" "10" "6467" "0" "6467" "0" "c.*998G>A" "r.(=)" "p.(=)" "" "0000288179" "00001750" "30" "6244" "0" "6244" "0" "c.*775C>T" "r.(=)" "p.(=)" "" "0000289770" "00001750" "30" "162" "9" "162" "9" "c.162+9C>T" "r.(=)" "p.(=)" "" "0000289771" "00001750" "10" "2730" "0" "2730" "0" "c.2730C>T" "r.(?)" "p.(Ala910=)" "" "0000289772" "00001750" "30" "4008" "0" "4008" "0" "c.4008C>T" "r.(?)" "p.(Asp1336=)" "" "0000289773" "00001750" "50" "4168" "0" "4168" "0" "c.4168T>C" "r.(?)" "p.(Trp1390Arg)" "" "0000289774" "00001750" "30" "4659" "0" "4659" "0" "c.4659C>T" "r.(?)" "p.(Cys1553=)" "" "0000289775" "00001750" "50" "4886" "0" "4886" "0" "c.4886G>A" "r.(?)" "p.(Cys1629Tyr)" "" "0000563065" "00001750" "30" "189" "0" "189" "0" "c.189C>T" "r.(?)" "p.(Thr63=)" "" "0000563066" "00001750" "30" "1299" "0" "1299" "0" "c.1299C>G" "r.(?)" "p.(Asn433Lys)" "" "0000563068" "00001750" "70" "1642" "0" "1642" "0" "c.1642G>A" "r.(?)" "p.(Gly548Arg)" "" "0000563069" "00001750" "30" "1657" "6" "1657" "6" "c.1657+6C>T" "r.(=)" "p.(=)" "" "0000563070" "00001750" "30" "1749" "0" "1749" "0" "c.1749C>T" "r.(?)" "p.(Ile583=)" "" "0000563071" "00001750" "30" "1806" "0" "1806" "0" "c.1806C>T" "r.(?)" "p.(His602=)" "" "0000563072" "00001750" "30" "2551" "-16" "2551" "-12" "c.2551-16_2551-12del" "r.(=)" "p.(=)" "" "0000563073" "00001750" "30" "3017" "0" "3017" "0" "c.3017A>T" "r.(?)" "p.(Gln1006Leu)" "" "0000563074" "00001750" "50" "3221" "0" "3221" "0" "c.3221G>A" "r.(?)" "p.(Arg1074His)" "" "0000563075" "00001750" "30" "3598" "0" "3598" "0" "c.3598G>A" "r.(?)" "p.(Gly1200Arg)" "" "0000563076" "00001750" "50" "3707" "0" "3707" "0" "c.3707C>T" "r.(?)" "p.(Thr1236Ile)" "" "0000563077" "00001750" "50" "3861" "0" "3861" "0" "c.3861C>A" "r.(?)" "p.(Asn1287Lys)" "" "0000563078" "00001750" "30" "3861" "0" "3861" "0" "c.3861C>T" "r.(?)" "p.(Asn1287=)" "" "0000563079" "00001750" "30" "4430" "0" "4430" "0" "c.4430T>C" "r.(?)" "p.(Val1477Ala)" "" "0000563080" "00001750" "30" "4436" "0" "4436" "0" "c.4436A>G" "r.(?)" "p.(His1479Arg)" "" "0000563081" "00001750" "30" "4509" "0" "4509" "0" "c.4509G>A" "r.(?)" "p.(Ser1503=)" "" "0000563082" "00001750" "30" "4932" "0" "4932" "0" "c.4932A>G" "r.(?)" "p.(Pro1644=)" "" "0000563083" "00001750" "30" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(Phe1724=)" "" "0000578060" "00001750" "50" "665" "0" "665" "0" "c.665del" "r.(?)" "p.(Gly222Glufs*60)" "" "0000616817" "00001750" "50" "2405" "0" "2405" "0" "c.2405G>A" "r.(?)" "p.(Gly802Asp)" "" "0000616818" "00001750" "90" "4558" "347" "4558" "347" "c.4558+347C>T" "r.(=)" "p.(=)" "" "0000623765" "00001750" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(His422=)" "" "0000649702" "00001750" "30" "2207" "0" "2207" "0" "c.2207G>T" "r.(?)" "p.(Cys736Phe)" "" "0000649703" "00001750" "50" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Arg977Cys)" "" "0000649704" "00001750" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(=)" "p.(=)" "" "0000658247" "00001750" "50" "5275" "0" "5275" "0" "c.5275G>T" "r.(?)" "p.(Glu1759Ter)" "" "0000669417" "00001750" "30" "3729" "0" "3729" "0" "c.3729G>A" "r.(=)" "p.(=)" "" "0000681018" "00001750" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" "" "0000681019" "00001750" "30" "1434" "0" "1434" "0" "c.1434G>T" "r.(?)" "p.(Gln478His)" "" "0000681020" "00001750" "30" "2009" "0" "2009" "0" "c.2009G>A" "r.(?)" "p.(Arg670His)" "" "0000681021" "00001750" "50" "2359" "0" "2359" "0" "c.2359C>T" "r.(?)" "p.(Arg787Cys)" "" "0000681022" "00001750" "50" "3810" "0" "3810" "0" "c.3810G>A" "r.(?)" "p.(Met1270Ile)" "" "0000681023" "00001750" "50" "6472" "0" "6472" "0" "c.*1003G>A" "r.(=)" "p.(=)" "" "0000692464" "00001750" "50" "2510" "0" "2510" "0" "c.2510C>T" "r.(?)" "p.(Thr837Ile)" "" "0000692465" "00001750" "30" "2638" "0" "2638" "0" "c.2638G>A" "r.(?)" "p.(Asp880Asn)" "" "0000692466" "00001750" "50" "3508" "0" "3508" "0" "c.3508G>A" "r.(?)" "p.(Glu1170Lys)" "" "0000692467" "00001750" "30" "3861" "0" "3861" "0" "c.3861C>T" "r.(?)" "p.(Asn1287=)" "" "0000692468" "00001750" "50" "10645" "0" "10645" "0" "c.*5176G>A" "r.(=)" "p.(=)" "" "0000726676" "00001750" "30" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97Gln)" "" "0000726677" "00001750" "50" "10676" "0" "10676" "0" "c.*5207T>A" "r.(=)" "p.(=)" "" "0000808254" "00001750" "50" "3224" "0" "3224" "0" "c.3224A>C" "r.(?)" "p.(Gln1075Pro)" "" "0000808255" "00001750" "30" "4051" "0" "4051" "0" "c.4051G>A" "r.(?)" "p.(Asp1351Asn)" "" "0000808256" "00001750" "50" "5168" "0" "5168" "0" "c.5168G>C" "r.(?)" "p.(Gly1723Ala)" "" "0000830791" "00001750" "50" "1843" "0" "1843" "0" "c.1843G>A" "r.(?)" "p.(Glu615Lys)" "15" "0000855091" "00001750" "10" "1667" "0" "1667" "0" "c.1667G>A" "r.(?)" "p.(Arg556His)" "" "0000855092" "00001750" "30" "1749" "0" "1749" "0" "c.1749C>T" "r.(?)" "p.(Ile583=)" "" "0000855093" "00001750" "30" "2115" "0" "2115" "0" "c.2115C>A" "r.(?)" "p.(Asp705Glu)" "" "0000855094" "00001750" "50" "2596" "0" "2596" "0" "c.2596C>T" "r.(?)" "p.(Gln866*)" "" "0000855095" "00001750" "10" "2730" "0" "2730" "0" "c.2730C>T" "r.(?)" "p.(Ala910=)" "" "0000855096" "00001750" "30" "2782" "17" "2782" "17" "c.2782+17G>A" "r.(=)" "p.(=)" "" "0000855097" "00001750" "10" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Arg977Cys)" "" "0000855098" "00001750" "50" "3080" "0" "3080" "0" "c.3080G>A" "r.(?)" "p.(Arg1027His)" "" "0000855099" "00001750" "30" "3519" "0" "3519" "0" "c.3519G>A" "r.(?)" "p.(Leu1173=)" "" "0000855100" "00001750" "90" "3793" "1" "3793" "1" "c.3793+1G>A" "r.spl?" "p.?" "" "0000855101" "00001750" "30" "4008" "0" "4008" "0" "c.4008C>T" "r.(?)" "p.(Asp1336=)" "" "0000855102" "00001750" "10" "4559" "-4" "4559" "-4" "c.4559-4C>G" "r.spl?" "p.?" "" "0000855103" "00001750" "30" "5172" "0" "5172" "0" "c.5172C>T" "r.(?)" "p.(Phe1724=)" "" "0000855104" "00001750" "30" "5367" "0" "5367" "0" "c.5367C>T" "r.(?)" "p.(Gly1789=)" "" "0000865493" "00001750" "50" "848" "0" "848" "0" "c.848G>A" "r.(?)" "p.(Arg283His)" "" "0000865494" "00001750" "30" "1003" "-16" "1003" "-16" "c.1003-16G>A" "r.(=)" "p.(=)" "" "0000865495" "00001750" "30" "1533" "0" "1533" "0" "c.1533G>A" "r.(?)" "p.(Pro511=)" "" "0000865496" "00001750" "30" "2922" "0" "2922" "0" "c.2922C>T" "r.(?)" "p.(Leu974=)" "" "0000865497" "00001750" "30" "4932" "0" "4932" "0" "c.4932A>G" "r.(?)" "p.(Pro1644=)" "" "0000865498" "00001750" "30" "6283" "0" "6283" "0" "c.*814G>A" "r.(=)" "p.(=)" "" "0000894257" "00001750" "30" "387" "0" "387" "0" "c.387C>T" "r.(?)" "p.(Pro129=)" "" "0000894258" "00001750" "30" "469" "4" "469" "4" "c.469+4C>T" "r.spl?" "p.?" "" "0000894259" "00001750" "30" "867" "0" "867" "0" "c.867C>T" "r.(?)" "p.(His289=)" "" "0000894260" "00001750" "30" "1002" "20" "1002" "20" "c.1002+20C>G" "r.(=)" "p.(=)" "" "0000894261" "00001750" "50" "1118" "0" "1118" "0" "c.1118G>C" "r.(?)" "p.(Arg373Pro)" "" "0000894262" "00001750" "30" "1266" "0" "1266" "0" "c.1266C>T" "r.(?)" "p.(His422=)" "" "0000894263" "00001750" "30" "1377" "15" "1377" "15" "c.1377+15C>T" "r.(=)" "p.(=)" "" "0000894264" "00001750" "30" "1377" "18" "1377" "18" "c.1377+18A>T" "r.(=)" "p.(=)" "" "0000894265" "00001750" "30" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Cys476=)" "" "0000894266" "00001750" "30" "1805" "0" "1805" "0" "c.1805A>T" "r.(?)" "p.(His602Leu)" "" "0000894267" "00001750" "30" "1893" "0" "1893" "0" "c.1893C>G" "r.(?)" "p.(Ser631=)" "" "0000894268" "00001750" "30" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(Ala637=)" "" "0000894269" "00001750" "50" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Arg791Cys)" "" "0000894270" "00001750" "30" "2446" "19" "2446" "19" "c.2446+19G>A" "r.(=)" "p.(=)" "" "0000894271" "00001750" "30" "3598" "0" "3598" "0" "c.3598G>A" "r.(?)" "p.(Gly1200Arg)" "" "0000894272" "00001750" "30" "4383" "0" "4383" "0" "c.4383G>A" "r.(?)" "p.(Met1461Ile)" "" "0000894273" "00001750" "30" "4417" "0" "4417" "0" "c.4417C>T" "r.(?)" "p.(Leu1473=)" "" "0000894274" "00001750" "30" "4509" "0" "4509" "0" "c.4509G>A" "r.(?)" "p.(Ser1503=)" "" "0000894275" "00001750" "30" "4558" "367" "4558" "367" "c.4558+367T>C" "r.(=)" "p.(=)" "" "0000894276" "00001750" "90" "4692" "0" "4692" "0" "c.4692C>A" "r.(?)" "p.(Tyr1564*)" "" "0000894277" "00001750" "30" "4902" "0" "4902" "0" "c.4902C>G" "r.(?)" "p.(Ser1634=)" "" "0000894278" "00001750" "30" "5408" "0" "5408" "0" "c.5408G>A" "r.(?)" "p.(Arg1803Gln)" "" "0000914966" "00001750" "30" "860" "0" "860" "0" "c.860G>A" "r.(?)" "p.(Arg287Gln)" "" "0000914967" "00001750" "30" "1056" "0" "1056" "0" "c.1056G>A" "r.(?)" "p.(Ser352=)" "" "0000914968" "00001750" "30" "4709" "-3" "4709" "-3" "c.4709-3del" "r.spl?" "p.?" "" "0000914969" "00001750" "50" "4802" "0" "4802" "0" "c.4802G>A" "r.(?)" "p.(Arg1601Gln)" "" "0000926634" "00001750" "30" "1215" "19" "1215" "19" "c.1215+19A>G" "r.(=)" "p.(=)" "" "0000926635" "00001750" "30" "4093" "0" "4093" "0" "c.4093G>A" "r.(?)" "p.(Val1365Ile)" "" "0000930883" "00001750" "30" "3384" "0" "3384" "0" "c.3384C>T" "r.(?)" "p.(=)" "" "0000936351" "00001750" "50" "4655" "0" "4655" "0" "c.4655G>A" "r.(?)" "p.(Arg1552Gln)" "" "0000951032" "00001750" "30" "163" "-4" "163" "-4" "c.163-4C>G" "r.spl?" "p.?" "" "0000951033" "00001750" "30" "2784" "0" "2784" "0" "c.2784C>T" "r.(?)" "p.(=)" "" "0000951034" "00001750" "50" "3392" "0" "3392" "0" "c.3392A>G" "r.(?)" "p.(Gln1131Arg)" "" "0000969226" "00001750" "30" "1345" "0" "1345" "0" "c.1345G>A" "r.(?)" "p.(Gly449Ser)" "" "0000969227" "00001750" "30" "1377" "7" "1377" "7" "c.1377+7C>T" "r.(=)" "p.(=)" "" "0000969229" "00001750" "30" "2422" "0" "2422" "0" "c.2422G>A" "r.(?)" "p.(Ala808Thr)" "" "0000969230" "00001750" "50" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "" "0000969231" "00001750" "30" "2918" "0" "2918" "0" "c.2918C>A" "r.(?)" "p.(Thr973Asn)" "" "0000969232" "00001750" "50" "3304" "0" "3304" "0" "c.3304A>C" "r.(?)" "p.(Ile1102Leu)" "" "0000982795" "00001750" "30" "231" "0" "231" "0" "c.231C>T" "r.(?)" "p.(=)" "" "0000982796" "00001750" "30" "1428" "0" "1428" "0" "c.1428C>T" "r.(?)" "p.(Cys476=)" "" "0000982797" "00001750" "10" "1860" "17" "1860" "17" "c.1860+17C>T" "r.(=)" "p.(=)" "" "0000982798" "00001750" "30" "1911" "0" "1911" "0" "c.1911G>A" "r.(?)" "p.(Ala637=)" "" "0000982799" "00001750" "30" "2550" "7" "2550" "7" "c.2550+7A>T" "r.(=)" "p.(=)" "" "0000982800" "00001750" "30" "3112" "-3" "3112" "-3" "c.3112-3C>T" "r.spl?" "p.?" "" "0000982801" "00001750" "90" "10645" "0" "10645" "0" "c.*5176G>A" "r.(=)" "p.(=)" "" "0001003667" "00001750" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" "" "0001003668" "00001750" "30" "1522" "0" "1522" "0" "c.1522G>A" "r.(?)" "p.(Glu508Lys)" "" "0001003669" "00001750" "30" "3442" "0" "3442" "0" "c.3442C>G" "r.(?)" "p.(Leu1148Val)" "" "0001003670" "00001750" "30" "5219" "-15" "5219" "-15" "c.5219-15A>T" "r.(=)" "p.(=)" "" "0001027055" "00001750" "50" "3985" "0" "3985" "0" "c.3985A>C" "r.(?)" "p.(Ile1329Leu)" "" "0001042171" "00001750" "50" "499" "0" "499" "0" "c.499T>A" "r.(?)" "p.(Tyr167Asn)" "" "0001042172" "00001750" "30" "1657" "330" "1657" "330" "c.1657+330G>A" "r.(=)" "p.(=)" "" "0001042173" "00001750" "50" "1955" "0" "1955" "0" "c.1955A>G" "r.(?)" "p.(Asn652Ser)" "" "0001042174" "00001750" "30" "2145" "0" "2145" "0" "c.2145C>T" "r.(?)" "p.(=)" "" "0001042175" "00001750" "50" "2631" "0" "2631" "0" "c.2631A>C" "r.(?)" "p.(Lys877Asn)" "" "0001042176" "00001750" "50" "3702" "0" "3702" "0" "c.3702G>A" "r.(?)" "p.(=)" "" "0001042177" "00001750" "90" "4505" "0" "4508" "0" "c.4505_4508dup" "r.(?)" "p.(Thr1504Leufs*69)" "" "0001042178" "00001750" "50" "5982" "0" "5982" "0" "c.*513C>T" "r.(=)" "p.(=)" "" "0001048347" "00001750" "70" "4217" "0" "4217" "0" "c.4217G>C" "r.(?)" "p.(Arg1406Pro)" "" "0001048348" "00001750" "70" "1940" "0" "1940" "0" "c.1940C>T" "r.(?)" "p.(Thr647Met)" "" "0001056181" "00001750" "30" "702" "0" "702" "0" "c.702C>T" "r.(?)" "p.(=)" "" "0001056182" "00001750" "50" "1294" "0" "1294" "0" "c.1294G>A" "r.(?)" "p.(Gly432Ser)" "" "0001056183" "00001750" "50" "1585" "0" "1585" "0" "c.1585G>A" "r.(?)" "p.(Gly529Ser)" "" "0001056184" "00001750" "50" "1936" "0" "1936" "0" "c.1936C>T" "r.(?)" "p.(Arg646Cys)" "" "0001056185" "00001750" "30" "3474" "6" "3474" "6" "c.3474+6G>T" "r.(=)" "p.(=)" "" "0001056186" "00001750" "50" "4256" "0" "4256" "0" "c.4256A>G" "r.(?)" "p.(Asp1419Gly)" "" "0001056187" "00001750" "50" "4705" "0" "4705" "0" "c.4705G>A" "r.(?)" "p.(Gly1569Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002671" "0000133634" "0000222876" "0000133634" "0000222877" "0000133634" "0000222878" "0000133634" "0000222879" "0000133634" "0000222880" "0000249309" "0000578060" "0000293013" "0000649702" "0000293014" "0000649703" "0000293015" "0000649704" "0000305729" "0000669417" "0000398577" "0000830791" "0000440193" "0000936351" "0000468511" "0001048347" "0000468511" "0001048348"