### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CDH11) # 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}}" "CDH11" "cadherin 11, type 2, OB-cadherin (osteoblast)" "16" "q21" "unknown" "NG_029491.2" "UD_132118975566" "" "https://www.LOVD.nl/CDH11" "" "1" "1750" "1009" "600023" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/CDH11_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-06 19:11:03" "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}}" "00004820" "CDH11" "cadherin 11, type 2, OB-cadherin (osteoblast)" "001" "NM_001797.2" "" "NP_001788.2" "" "" "" "-434" "3214" "2391" "65155919" "64980683" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09" "06285" "ESWS" "Elsahy-Waters syndrome" "AR" "211380" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CDH11" "06285" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00104025" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-716A" "00276053" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00329102" "" "" "" "4" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, 4 affected (3F, M)" "F;M" "" "United States" "" "0" "" "" "" "FamA" "00329103" "" "" "" "1" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "FamB" "00329104" "" "" "" "2" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, affected father/daughter" "F;M" "" "United States" "" "0" "" "" "" "FamC" "00329105" "" "" "" "1" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "FamD" "00329106" "" "" "" "1" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "FamE" "00329107" "" "" "" "5" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "3-generation family, 5 affected (2F, 3M)" "F;M" "" "United States" "" "0" "" "" "" "FamF" "00329108" "" "" "" "1" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "FamG" "00329109" "" "" "" "6" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "4-generation family, 6 affected (F, 5M)" "F;M" "" "United States" "" "0" "" "" "" "FamH" "00329110" "" "" "" "1" "" "00679" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "FamI" "00361496" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "12DG1149" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00104025" "03381" "00276053" "00198" "00329102" "00198" "00329103" "00198" "00329104" "00198" "00329105" "00198" "00329106" "00198" "00329107" "00198" "00329108" "00198" "00329109" "00198" "00329110" "00198" "00361496" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 03381, 06285 ## Count = 12 "{{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}}" "0000081959" "03381" "00104025" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" "" "0000210609" "00198" "00276053" "01807" "Unknown" "" "Proptosis (HP:0000520); Global developmental delay (HP:0001263); Hypertelorism (HP:0000316); Developmental glaucoma (HP:0001087); Behavioral abnormality (HP:0000708)" "" "" "" "" "" "" "" "" "" "" "" "0000247299" "00198" "00329102" "00679" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247300" "00198" "00329103" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247301" "00198" "00329105" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247302" "00198" "00329104" "00679" "-" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247303" "00198" "00329106" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247304" "00198" "00329107" "00679" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247307" "00198" "00329108" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247308" "00198" "00329109" "00679" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000247309" "00198" "00329110" "00679" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000256901" "00139" "00361496" "00006" "Familial, autosomal recessive" "3y5m" "syndromic; intellectual disability and dysmorphism" "" "" "" "" "" "" "" "" "" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104496" "00104025" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" "" "0000277200" "00276053" "1" "01807" "01807" "2020-01-24 11:03:05" "" "" "SEQ" "DNA" "" "" "0000330320" "00329102" "1" "00679" "00679" "2021-02-03 21:10:46" "" "" "SEQ-NG-I" "DNA" "" "" "0000330321" "00329103" "1" "00679" "00679" "2021-02-03 21:14:45" "" "" "SEQ-NG-I" "DNA" "" "" "0000330322" "00329104" "1" "00679" "00679" "2021-02-03 21:17:08" "" "" "SEQ-NG-I" "DNA" "" "" "0000330323" "00329105" "1" "00679" "00679" "2021-02-03 21:19:26" "" "" "SEQ-NG-I" "DNA" "" "" "0000330324" "00329106" "1" "00679" "00679" "2021-02-03 21:24:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000330325" "00329107" "1" "00679" "00679" "2021-02-03 21:27:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000330328" "00329108" "1" "00679" "00679" "2021-02-03 21:33:50" "" "" "SEQ-NG-I" "DNA" "" "" "0000330329" "00329109" "1" "00679" "00679" "2021-02-03 21:36:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000330330" "00329110" "1" "00679" "00679" "2021-02-03 21:37:42" "" "" "SEQ-NG-I" "DNA" "" "" "0000362724" "00361496" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000362724" "CDH11" ## 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 = 27 "{{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}}" "0000169376" "0" "70" "16" "64981765" "64981765" "subst" "2.03072E-5" "00587" "CDH11_000001" "g.64981765G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_001797.3(CDH11):c.2132C>T p.(Ala711Val)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.64947862G>A" "" "likely pathogenic" "" "0000616064" "0" "50" "16" "65025697" "65025697" "subst" "0" "02325" "CDH11_000003" "g.65025697T>C" "" "" "" "CDH11(NM_001308392.2):c.785A>G (p.N262S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.64991794T>C" "" "VUS" "" "0000631944" "3" "70" "16" "65005485" "65005485" "subst" "0" "01807" "CDH11_000004" "g.65005485G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.64971582G>A" "" "likely pathogenic" "" "0000714891" "11" "90" "16" "65022080" "65022080" "subst" "0" "00679" "CDH11_000005" "g.65022080C>A" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000714892" "0" "90" "16" "65038609" "65038609" "subst" "0" "00679" "CDH11_000006" "g.65038609C>G" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000714893" "0" "90" "16" "65032570" "65032570" "subst" "0" "00679" "CDH11_000007" "g.65032570C>T" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000714894" "0" "90" "16" "65025702" "65025702" "subst" "0" "00679" "CDH11_000008" "g.65025702A>T" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000714895" "0" "90" "16" "65025697" "65025697" "subst" "0" "00679" "CDH11_000009" "g.65025697T>A" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000714896" "0" "90" "16" "65025704" "65025704" "subst" "0" "00679" "CDH11_000010" "g.65025704C>T" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic" "" "0000714899" "0" "90" "16" "65022224" "65022224" "subst" "0" "00679" "CDH11_000011" "g.65022224C>G" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000714900" "21" "90" "16" "65016083" "65016083" "subst" "0" "00679" "CDH11_000012" "g.65016083A>T" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "Germline" "yes" "" "" "" "" "" "" "pathogenic" "" "0000714901" "0" "90" "16" "65025685" "65025685" "subst" "4.06775E-6" "00679" "CDH11_000013" "g.65025685G>A" "" "{PMID:Li 2021:33811546}, {DOI:Li 2021:10.1007/s00439-021-02274-3}" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000725891" "0" "50" "16" "64981858" "64981858" "subst" "0" "02329" "CDH11_000002" "g.64981858G>T" "" "" "" "CDH11(NM_001797.4):c.2039C>A (p.T680N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763098" "3" "90" "16" "65022059" "65022059" "subst" "0" "00006" "CDH11_000014" "g.65022059C>A" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.64988156C>A" "" "pathogenic" "" "0000926315" "0" "50" "16" "65005565" "65005565" "subst" "0" "02325" "CDH11_000015" "g.65005565T>A" "" "" "" "CDH11(NM_001797.4):c.1559A>T (p.D520V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926316" "0" "50" "16" "65038589" "65038589" "subst" "2.84726E-5" "02325" "CDH11_000016" "g.65038589C>T" "" "" "" "CDH11(NM_001797.4):c.184G>A (p.V62M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930630" "0" "50" "16" "65022245" "65022245" "subst" "3.39659E-5" "02325" "CDH11_000017" "g.65022245C>T" "" "" "" "CDH11(NM_001797.4):c.814G>A (p.V272I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930631" "0" "50" "16" "65025800" "65025800" "subst" "6.10143E-5" "02325" "CDH11_000018" "g.65025800C>A" "" "" "" "CDH11(NM_001797.4):c.682G>T (p.A228S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000968434" "0" "50" "16" "64981952" "64981952" "subst" "0.000300547" "02325" "CDH11_000019" "g.64981952T>C" "" "" "" "CDH11(NM_001797.4):c.1945A>G (p.(Ile649Val), p.I649V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000981985" "0" "50" "16" "64981952" "64981952" "subst" "0.000300547" "01804" "CDH11_000019" "g.64981952T>C" "" "" "" "CDH11(NM_001797.4):c.1945A>G (p.(Ile649Val), p.I649V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002471" "0" "50" "16" "65016096" "65016096" "subst" "2.84446E-5" "01804" "CDH11_000020" "g.65016096C>T" "" "" "" "CDH11(NM_001797.2):c.1108G>A (p.(Val370Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002472" "0" "50" "16" "65016116" "65016116" "subst" "0" "01804" "CDH11_000021" "g.65016116G>A" "" "" "" "CDH11(NM_001797.2):c.1088C>T (p.(Pro363Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001002473" "0" "30" "16" "65025782" "65025782" "subst" "4.06263E-6" "01804" "CDH11_000022" "g.65025782C>A" "" "" "" "CDH11(NM_001797.2):c.700G>T (p.(Val234Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001002474" "0" "50" "16" "65032579" "65032579" "subst" "8.12209E-6" "01804" "CDH11_000023" "g.65032579G>A" "" "" "" "CDH11(NM_001797.2):c.409C>T (p.(Arg137Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026726" "0" "50" "16" "65016003" "65016003" "subst" "2.84798E-5" "02325" "CDH11_000024" "g.65016003C>T" "" "" "" "CDH11(NM_001797.4):c.1201G>A (p.V401M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041239" "0" "30" "16" "65005606" "65005606" "subst" "9.82696E-5" "01804" "CDH11_000025" "g.65005606G>A" "" "" "" "CDH11(NM_001797.4):c.1525-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001041240" "0" "50" "16" "65005881" "65005881" "subst" "0" "01804" "CDH11_000026" "g.65005881C>T" "" "" "" "CDH11(NM_001797.4):c.1477G>A (p.(Glu493Lys))" "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 CDH11 ## Count = 27 "{{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}}" "0000169376" "00004820" "00" "2132" "0" "2132" "0" "c.2132C>T" "r.(?)" "p.(Ala711Val)" "" "0000616064" "00004820" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Asn262Ser)" "" "0000631944" "00004820" "70" "1639" "0" "1639" "0" "c.1639C>T" "r.(?)" "p.(Arg547*)" "" "0000714891" "00004820" "90" "979" "0" "979" "0" "c.979G>T" "r.(?)" "p.(Gly327Trp)" "" "0000714892" "00004820" "90" "164" "0" "164" "0" "c.164G>C" "r.(?)" "p.(Trp55Ser)" "" "0000714893" "00004820" "90" "418" "0" "418" "0" "c.418G>A" "r.(?)" "p.(Glu140Lys)" "" "0000714894" "00004820" "90" "780" "0" "780" "0" "c.780T>A" "r.(?)" "p.(Asp260Glu)" "" "0000714895" "00004820" "90" "785" "0" "785" "0" "c.785A>T" "r.(?)" "p.(Asn262Ile)" "" "0000714896" "00004820" "90" "778" "0" "778" "0" "c.778G>A" "r.(?)" "p.(Asp260Asn)" "" "0000714899" "00004820" "90" "835" "0" "835" "0" "c.835G>C" "r.(?)" "p.(Glu279Gln)" "" "0000714900" "00004820" "90" "1121" "0" "1121" "0" "c.1121T>A" "r.(?)" "p.(Val374Glu)" "" "0000714901" "00004820" "90" "797" "0" "797" "0" "c.797C>T" "r.(?)" "p.(Pro266Leu)" "" "0000725891" "00004820" "50" "2039" "0" "2039" "0" "c.2039C>A" "r.(?)" "p.(Thr680Asn)" "" "0000763098" "00004820" "90" "999" "1" "999" "1" "c.999+1G>T" "r.spl" "p.?" "" "0000926315" "00004820" "50" "1559" "0" "1559" "0" "c.1559A>T" "r.(?)" "p.(Asp520Val)" "" "0000926316" "00004820" "50" "184" "0" "184" "0" "c.184G>A" "r.(?)" "p.(Val62Met)" "" "0000930630" "00004820" "50" "814" "0" "814" "0" "c.814G>A" "r.(?)" "p.(Val272Ile)" "" "0000930631" "00004820" "50" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Ala228Ser)" "" "0000968434" "00004820" "50" "1945" "0" "1945" "0" "c.1945A>G" "r.(?)" "p.(Ile649Val)" "" "0000981985" "00004820" "50" "1945" "0" "1945" "0" "c.1945A>G" "r.(?)" "p.(Ile649Val)" "" "0001002471" "00004820" "50" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Val370Ile)" "" "0001002472" "00004820" "50" "1088" "0" "1088" "0" "c.1088C>T" "r.(?)" "p.(Pro363Leu)" "" "0001002473" "00004820" "30" "700" "0" "700" "0" "c.700G>T" "r.(?)" "p.(Val234Leu)" "" "0001002474" "00004820" "50" "409" "0" "409" "0" "c.409C>T" "r.(?)" "p.(Arg137Trp)" "" "0001026726" "00004820" "50" "1201" "0" "1201" "0" "c.1201G>A" "r.(?)" "p.(Val401Met)" "" "0001041239" "00004820" "30" "1525" "-7" "1525" "-7" "c.1525-7C>T" "r.(=)" "p.(=)" "" "0001041240" "00004820" "50" "1477" "0" "1477" "0" "c.1477G>A" "r.(?)" "p.(Glu493Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000104496" "0000169376" "0000277200" "0000631944" "0000330320" "0000714891" "0000330321" "0000714892" "0000330322" "0000714893" "0000330323" "0000714894" "0000330324" "0000714895" "0000330325" "0000714896" "0000330328" "0000714899" "0000330329" "0000714900" "0000330330" "0000714901" "0000362724" "0000763098"