### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MEGF8) # 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}}" "MEGF8" "multiple EGF-like-domains 8" "19" "q13.2" "unknown" "NC_000019.9" "UD_136088425267" "" "http://www.LOVD.nl/MEGF8" "" "1" "3233" "1954" "604267" "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/MEGF8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-12-19 15:58:24" "00006" "2025-11-07 15:53:58" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00011989" "MEGF8" "multiple EGF-like-domains 8" "001" "NM_001410.2" "" "NP_001401.2" "" "" "" "-635" "10331" "8337" "42829761" "42882921" "" "0000-00-00 00:00:00" "" "" "00025962" "MEGF8" "transcript variant 1" "005" "NM_001271938.1" "" "NP_001258867.1" "" "" "" "-635" "10532" "8538" "42829761" "42882921" "00006" "2024-12-19 15:58:48" "" "" ## 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" "00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00855" "CRPT2" "Carpenter syndrome, type 2 (CRPT-2)" "AR" "614976" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MEGF8" "00139" "MEGF8" "00855" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00292142" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00292143" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304663" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304664" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00314910" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "M" "" "United States" "" "0" "" "" "" "Trio108" "00453769" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV780" "00453770" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV946" "00453771" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV148" "00460989" "" "" "" "1" "" "04796" "" "" "" "" "Netherlands" "" "0" "" "" "" "" "00468264" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "F" "" "United States" "" "0" "" "" "Hispanic;white" "GMKF_3" "00468271" "" "" "" "1" "" "00006" "{PMID:Rai 2025:40543504}" "" "M" "" "United States" "" "0" "" "" "non-Hispanic;white" "GMKF_10" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 11 "{{individualid}}" "{{diseaseid}}" "00292142" "00198" "00292143" "00198" "00304663" "00198" "00304664" "00198" "00314910" "00198" "00453769" "00152" "00453770" "00152" "00453771" "00152" "00460989" "00198" "00468264" "00198" "00468271" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 00855 ## Count = 6 "{{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}}" "0000238668" "00198" "00314910" "00006" "Unknown" "10y" "Absent left testicle, congenital diaphragmatic hernia and pectus excavatum, short stature with poor weight gain, vesicoureteral reflux, and dysmorphic features including slight bitemporal narrowing with prominent occiput, low posterior hairline, hypertelorism, small ears with overfolded helices, hemangioma on right temple." "1d" "" "" "" "" "" "" "" "" "" "" "0000342426" "00152" "00453769" "00006" "Unknown" "" "coarctation repair; coarctation" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342427" "00152" "00453770" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000342428" "00152" "00453771" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" "" "0000353416" "00198" "00468264" "00006" "Di-genic" "" "see paper; ..., dextro-transposition great arteries, pulmonary stenosis, left superior vena cava connecting to the coronary sinus; atrial situs solitus; right ventricular situs; right arterial situs; dextro-transposition great arteries" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" "0000353423" "00198" "00468271" "00006" "Di-genic" "" "see paper; ..., left transposition great arteries, ventricular septal defect; atrial situs solitus; left ventricular situs; left arterial situs; congenitally corrected transposition great arteries" "" "" "" "" "" "" "" "" "" "congenital cardiac laterality defect" "" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000293310" "00292142" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000293311" "00292143" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305792" "00304663" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305793" "00304664" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000316084" "00314910" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000455381" "00453769" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455382" "00453770" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000455383" "00453771" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000462621" "00460989" "1" "04796" "00006" "2024-11-05 16:15:00" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "fibroblasts" "mRNA splicing analysis on tissue" "0000469930" "00468264" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469937" "00468271" "1" "00006" "00006" "2025-11-07 15:53:55" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000316084" "MEGF8" "0000462621" "MEGF8" ## 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 = 146 "{{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}}" "0000291730" "0" "30" "19" "42848706" "42848706" "subst" "0.00231996" "01943" "MEGF8_000007" "g.42848706C>T" "" "" "" "MEGF8(NM_001271938.2):c.1902C>T (p.C634=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42344554C>T" "" "likely benign" "" "0000291731" "0" "30" "19" "42861084" "42861084" "subst" "0.0019262" "01943" "MEGF8_000013" "g.42861084G>A" "" "" "" "MEGF8(NM_001271938.1):c.4781G>A (p.(Arg1594His)), MEGF8(NM_001271938.2):c.4781G>A (p.R1594H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42356932G>A" "" "likely benign" "" "0000291732" "0" "50" "19" "42839202" "42839202" "subst" "6.11436E-5" "01943" "MEGF8_000004" "g.42839202C>T" "" "" "" "MEGF8(NM_001271938.2):c.574C>T (p.R192C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42335050C>T" "" "VUS" "" "0000291733" "0" "30" "19" "42879871" "42879871" "subst" "3.31592E-5" "01943" "MEGF8_000021" "g.42879871C>T" "" "" "" "MEGF8(NM_001271938.2):c.7482C>T (p.D2494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375719C>T" "" "likely benign" "" "0000291734" "0" "30" "19" "42880565" "42880565" "subst" "0.00213521" "01943" "MEGF8_000028" "g.42880565C>T" "" "" "" "MEGF8(NM_001271938.1):c.8176C>T (p.(Arg2726Cys)), MEGF8(NM_001271938.2):c.8176C>T (p.R2726C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376413C>T" "" "likely benign" "" "0000326555" "0" "50" "19" "42837850" "42837850" "subst" "0.000377837" "01804" "MEGF8_000001" "g.42837850C>T" "" "" "" "MEGF8(NM_001271938.1):c.281C>T (p.(Pro94Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42333698C>T" "" "VUS" "" "0000326556" "0" "50" "19" "42837852" "42837852" "subst" "4.06263E-6" "01804" "MEGF8_000002" "g.42837852C>T" "" "" "" "MEGF8(NM_001271938.1):c.283C>T (p.(Arg95Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42333700C>T" "" "VUS" "" "0000326557" "0" "50" "19" "42837853" "42837853" "subst" "1.62509E-5" "01804" "MEGF8_000003" "g.42837853G>A" "" "" "" "MEGF8(NM_001410.2):c.284G>A (p.(Arg95Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42333701G>A" "" "VUS" "" "0000326559" "0" "50" "19" "42848620" "42848620" "subst" "0" "01804" "MEGF8_000006" "g.42848620G>C" "" "" "" "MEGF8(NM_001271938.1):c.1816G>C (p.(Gly606Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42344468G>C" "" "VUS" "" "0000326560" "0" "50" "19" "42853829" "42853829" "subst" "1.64241E-5" "01804" "MEGF8_000008" "g.42853829G>A" "" "" "" "MEGF8(NM_001271938.1):c.2477G>A (p.(Arg826Gln)), MEGF8(NM_001271938.2):c.2477G>A (p.R826Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42349677G>A" "" "VUS" "" "0000326561" "0" "50" "19" "42854406" "42854406" "subst" "0" "01804" "MEGF8_000009" "g.42854406G>A" "" "" "" "MEGF8(NM_001410.2):c.2405G>A (p.(Ser802Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42350254G>A" "" "VUS" "" "0000326563" "0" "50" "19" "42860283" "42860283" "subst" "0" "01804" "MEGF8_000011" "g.42860283G>A" "" "" "" "MEGF8(NM_001271938.1):c.4441G>A (p.(Ala1481Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42356131G>A" "" "VUS" "" "0000326564" "0" "50" "19" "42861036" "42861036" "subst" "0.000144483" "01804" "MEGF8_000012" "g.42861036G>A" "" "" "" "MEGF8(NM_001271938.1):c.4733G>A (p.(Arg1578His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42356884G>A" "" "VUS" "" "0000326566" "0" "30" "19" "42865145" "42865145" "subst" "1.5198E-5" "01804" "MEGF8_000015" "g.42865145G>C" "" "" "" "MEGF8(NM_001271938.1):c.5707G>C (p.(Asp1903His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42360993G>C" "" "likely benign" "" "0000326567" "0" "50" "19" "42867284" "42867284" "subst" "4.09396E-6" "01804" "MEGF8_000016" "g.42867284C>T" "" "" "" "MEGF8(NM_001271938.1):c.6143C>T (p.(Pro2048Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42363132C>T" "" "VUS" "" "0000326568" "0" "30" "19" "42874895" "42874895" "subst" "0.000464941" "01804" "MEGF8_000017" "g.42874895G>A" "" "" "" "MEGF8(NM_001271938.1):c.7048G>A (p.(Val2350Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42370743G>A" "" "likely benign" "" "0000326570" "0" "50" "19" "42879809" "42879809" "subst" "3.35514E-5" "01804" "MEGF8_000019" "g.42879809C>T" "" "" "" "MEGF8(NM_001271938.1):c.7420C>T (p.(Arg2474Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375657C>T" "" "VUS" "" "0000326571" "0" "30" "19" "42879810" "42879810" "subst" "0.00395441" "01804" "MEGF8_000020" "g.42879810G>A" "" "" "" "MEGF8(NM_001271938.1):c.7421G>A (p.(Arg2474His)), MEGF8(NM_001271938.2):c.7421G>A (p.R2474H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375658G>A" "" "likely benign" "" "0000326572" "0" "30" "19" "42879956" "42879956" "subst" "0.000752147" "01804" "MEGF8_000022" "g.42879956A>G" "" "" "" "MEGF8(NM_001271938.1):c.7567A>G (p.(Thr2523Ala)), MEGF8(NM_001271938.2):c.7567A>G (p.T2523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375804A>G" "" "likely benign" "" "0000326574" "0" "30" "19" "42880062" "42880062" "subst" "0.00581298" "01804" "MEGF8_000024" "g.42880062C>T" "" "" "" "MEGF8(NM_001271938.1):c.7673C>T (p.(Pro2558Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375910C>T" "" "likely benign" "" "0000326575" "0" "30" "19" "42880094" "42880094" "subst" "0.00257463" "01804" "MEGF8_000025" "g.42880094G>A" "" "" "" "MEGF8(NM_001271938.1):c.7705G>A (p.(Val2569Ile)), MEGF8(NM_001271938.2):c.7705G>A (p.V2569I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42375942G>A" "" "likely benign" "" "0000326576" "0" "50" "19" "42880163" "42880163" "subst" "0.000967028" "01804" "MEGF8_000026" "g.42880163G>A" "" "" "" "MEGF8(NM_001271938.1):c.7774G>A (p.(Val2592Met)), MEGF8(NM_001271938.2):c.7774G>A (p.V2592M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376011G>A" "" "VUS" "" "0000326579" "0" "50" "19" "42880608" "42880608" "subst" "0" "01804" "MEGF8_000029" "g.42880608C>T" "" "" "" "MEGF8(NM_001410.2):c.8018C>T (p.(Ala2673Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376456C>T" "" "VUS" "" "0000326580" "0" "50" "19" "42880839" "42880839" "subst" "9.1763E-5" "01804" "MEGF8_000030" "g.42880839G>C" "" "" "" "MEGF8(NM_001271938.1):c.8450G>C (p.(Gly2817Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.42376687G>C" "" "VUS" "" "0000567527" "0" "30" "19" "42828908" "42828908" "subst" "0" "01804" "MEGF8_000032" "g.42828908C>G" "" "" "" "TMEM145(NM_173633.2):c.1421C>G (p.(Pro474Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42324756C>G" "" "likely benign" "" "0000567528" "0" "50" "19" "42830519" "42830519" "subst" "0" "01804" "MEGF8_000033" "g.42830519G>C" "" "" "" "MEGF8(NM_001271938.1):c.124G>C (p.(Gly42Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42326367G>C" "" "VUS" "" "0000567529" "0" "30" "19" "42838235" "42838235" "subst" "0" "01804" "MEGF8_000034" "g.42838235C>G" "" "" "" "MEGF8(NM_001271938.1):c.428C>G (p.(Pro143Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42334083C>G" "" "likely benign" "" "0000567532" "0" "30" "19" "42839443" "42839443" "subst" "0.000190889" "01804" "MEGF8_000036" "g.42839443C>T" "" "" "" "MEGF8(NM_001271938.1):c.740-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42335291C>T" "" "likely benign" "" "0000567533" "0" "30" "19" "42840107" "42840107" "subst" "0.000211974" "01804" "MEGF8_000037" "g.42840107G>A" "" "" "" "MEGF8(NM_001271938.1):c.853G>A (p.(Val285Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42335955G>A" "" "likely benign" "" "0000567537" "0" "50" "19" "42853829" "42853829" "subst" "1.64241E-5" "01943" "MEGF8_000008" "g.42853829G>A" "" "" "" "MEGF8(NM_001271938.1):c.2477G>A (p.(Arg826Gln)), MEGF8(NM_001271938.2):c.2477G>A (p.R826Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42349677G>A" "" "VUS" "" "0000567538" "0" "30" "19" "42854337" "42854337" "subst" "0.00047239" "01804" "MEGF8_000041" "g.42854337C>T" "" "" "" "MEGF8(NM_001271938.1):c.2537C>T (p.(Ser846Leu)), MEGF8(NM_001271938.2):c.2537C>T (p.S846L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42350185C>T" "" "likely benign" "" "0000567539" "0" "30" "19" "42854432" "42854432" "subst" "0.000123636" "01804" "MEGF8_000042" "g.42854432G>A" "" "" "" "MEGF8(NM_001271938.1):c.2632G>A (p.(Gly878Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42350280G>A" "" "likely benign" "" "0000567541" "0" "30" "19" "42857077" "42857077" "subst" "0.0040666" "01804" "MEGF8_000044" "g.42857077C>T" "" "" "" "MEGF8(NM_001271938.2):c.3351-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42352925C>T" "" "likely benign" "" "0000567542" "0" "50" "19" "42857185" "42857185" "subst" "0.000241896" "01943" "MEGF8_000045" "g.42857185G>A" "" "" "" "MEGF8(NM_001271938.2):c.3456G>A (p.P1152=, p.(Pro1152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42353033G>A" "" "VUS" "" "0000567544" "0" "30" "19" "42857927" "42857927" "subst" "4.31414E-6" "01804" "MEGF8_000047" "g.42857927G>C" "" "" "" "MEGF8(NM_001271938.1):c.3762G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42353775G>C" "" "likely benign" "" "0000567545" "0" "30" "19" "42860230" "42860230" "subst" "0" "01804" "MEGF8_000048" "g.42860230C>A" "" "" "" "MEGF8(NM_001271938.1):c.4393-5C>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42356078C>A" "" "likely benign" "" "0000567546" "0" "50" "19" "42860512" "42860512" "subst" "5.36631E-5" "01804" "MEGF8_000049" "g.42860512G>A" "" "" "" "MEGF8(NM_001271938.1):c.4529G>A (p.(Arg1510His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42356360G>A" "" "VUS" "" "0000567548" "0" "30" "19" "42861084" "42861084" "subst" "0.0019262" "01804" "MEGF8_000013" "g.42861084G>A" "" "" "" "MEGF8(NM_001271938.1):c.4781G>A (p.(Arg1594His)), MEGF8(NM_001271938.2):c.4781G>A (p.R1594H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42356932G>A" "" "likely benign" "" "0000567550" "0" "50" "19" "42862396" "42862396" "subst" "0" "01943" "MEGF8_000052" "g.42862396G>T" "" "" "" "MEGF8(NM_001271938.2):c.5112G>T (p.E1704D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42358244G>T" "" "VUS" "" "0000567551" "0" "30" "19" "42863083" "42863083" "subst" "0.000642375" "01804" "MEGF8_000053" "g.42863083G>C" "" "" "" "MEGF8(NM_001271938.1):c.5320G>C (p.(Glu1774Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42358931G>C" "" "likely benign" "" "0000567552" "0" "50" "19" "42863358" "42863358" "subst" "4.35798E-6" "01943" "MEGF8_000054" "g.42863358G>C" "" "" "" "MEGF8(NM_001271938.2):c.5452G>C (p.V1818L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42359206G>C" "" "VUS" "" "0000567553" "0" "50" "19" "42865142" "42865142" "subst" "0.000140411" "01943" "MEGF8_000055" "g.42865142G>C" "" "" "" "MEGF8(NM_001271938.2):c.5704G>C (p.G1902R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42360990G>C" "" "VUS" "" "0000567554" "0" "30" "19" "42866754" "42866754" "subst" "0.000376061" "01943" "MEGF8_000056" "g.42866754G>T" "" "" "" "MEGF8(NM_001271938.2):c.6058+5G>T, MEGF8(NM_001410.2):c.5857+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42362602G>T" "" "likely benign" "" "0000567556" "0" "30" "19" "42872692" "42872692" "subst" "0.000206012" "01943" "MEGF8_000058" "g.42872692G>C" "" "" "" "MEGF8(NM_001271938.2):c.6359G>C (p.G2120A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42368540G>C" "" "likely benign" "" "0000567559" "0" "30" "19" "42874901" "42874901" "subst" "0.0180918" "01804" "MEGF8_000061" "g.42874901G>A" "" "" "" "MEGF8(NM_001271938.1):c.7054G>A (p.(Val2352Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42370749G>A" "" "likely benign" "" "0000567560" "0" "30" "19" "42879810" "42879810" "subst" "0.00395441" "01943" "MEGF8_000020" "g.42879810G>A" "" "" "" "MEGF8(NM_001271938.1):c.7421G>A (p.(Arg2474His)), MEGF8(NM_001271938.2):c.7421G>A (p.R2474H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375658G>A" "" "likely benign" "" "0000567561" "0" "30" "19" "42879853" "42879853" "subst" "4.18116E-6" "01943" "MEGF8_000062" "g.42879853C>T" "" "" "" "MEGF8(NM_001271938.2):c.7464C>T (p.D2488=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375701C>T" "" "likely benign" "" "0000567562" "0" "50" "19" "42880019" "42880019" "subst" "2.62573E-5" "01804" "MEGF8_000063" "g.42880019C>T" "" "" "" "MEGF8(NM_001271938.1):c.7630C>T (p.(Arg2544Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375867C>T" "" "VUS" "" "0000567564" "0" "30" "19" "42880094" "42880094" "subst" "0.00257463" "01943" "MEGF8_000025" "g.42880094G>A" "" "" "" "MEGF8(NM_001271938.1):c.7705G>A (p.(Val2569Ile)), MEGF8(NM_001271938.2):c.7705G>A (p.V2569I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375942G>A" "" "likely benign" "" "0000567565" "0" "30" "19" "42880102" "42880102" "subst" "0.000110665" "01943" "MEGF8_000065" "g.42880102G>A" "" "" "" "MEGF8(NM_001271938.2):c.7713G>A (p.P2571=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375950G>A" "" "likely benign" "" "0000567566" "0" "30" "19" "42880660" "42880660" "subst" "0.00018875" "01943" "MEGF8_000066" "g.42880660C>T" "" "" "" "MEGF8(NM_001271938.2):c.8271C>T (p.P2757=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42376508C>T" "" "likely benign" "" "0000617649" "0" "30" "19" "42853806" "42853806" "subst" "0.0011204" "01943" "MEGF8_000068" "g.42853806C>T" "" "" "" "MEGF8(NM_001271938.2):c.2454C>T (p.S818=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42349654C>T" "" "likely benign" "" "0000617650" "0" "50" "19" "42857121" "42857121" "subst" "0" "01804" "MEGF8_000069" "g.42857121C>T" "" "" "" "MEGF8(NM_001271938.1):c.3392C>T (p.(Pro1131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42352969C>T" "" "VUS" "" "0000617651" "0" "50" "19" "42857210" "42857210" "subst" "8.20513E-5" "01804" "MEGF8_000070" "g.42857210C>T" "" "" "" "MEGF8(NM_001271938.1):c.3481C>T (p.(Arg1161Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42353058C>T" "" "VUS" "" "0000617652" "0" "30" "19" "42858807" "42858807" "subst" "0" "01804" "MEGF8_000071" "g.42858807G>A" "" "" "" "MEGF8(NM_001271938.1):c.4079G>A (p.(Arg1360His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42354655G>A" "" "likely benign" "" "0000617653" "0" "50" "19" "42858876" "42858876" "subst" "8.41914E-6" "01804" "MEGF8_000072" "g.42858876C>T" "" "" "" "MEGF8(NM_001271938.1):c.4144+4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42354724C>T" "" "VUS" "" "0000617654" "0" "50" "19" "42861562" "42861562" "subst" "0" "01804" "MEGF8_000073" "g.42861562C>A" "" "" "" "MEGF8(NM_001271938.1):c.4837C>A (p.(Gln1613Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42357410C>A" "" "VUS" "" "0000617655" "0" "30" "19" "42880856" "42880856" "subst" "0.00112765" "01804" "MEGF8_000075" "g.42880856A>G" "" "" "" "MEGF8(NM_001271938.1):c.8467A>G (p.(Ser2823Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42376704A>G" "" "likely benign" "" "0000624018" "0" "30" "19" "42866344" "42866344" "subst" "0" "01943" "MEGF8_000074" "g.42866344C>T" "" "" "" "MEGF8(NM_001271938.2):c.5823C>T (p.T1941=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42362192C>T" "" "likely benign" "" "0000624019" "0" "50" "19" "42880163" "42880163" "subst" "0.000967028" "01943" "MEGF8_000026" "g.42880163G>A" "" "" "" "MEGF8(NM_001271938.1):c.7774G>A (p.(Val2592Met)), MEGF8(NM_001271938.2):c.7774G>A (p.V2592M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42376011G>A" "" "VUS" "" "0000649999" "1" "10" "19" "42874901" "42874901" "subst" "0.0180918" "03575" "MEGF8_000061" "g.42874901G>A" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous; {DB:CLININrs112167630}" "Germline" "" "rs112167630" "0" "" "" "g.42370749G>A" "" "benign" "" "0000650000" "1" "30" "19" "42879810" "42879810" "subst" "0.00395441" "03575" "MEGF8_000020" "g.42879810G>A" "16/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous; {DB:CLININrs45623135}" "Germline" "" "rs45623135" "0" "" "" "g.42375658G>A" "" "likely benign" "" "0000658590" "0" "50" "19" "42847715" "42847715" "subst" "1.22165E-5" "02325" "MEGF8_000076" "g.42847715G>A" "" "" "" "MEGF8(NM_001271938.2):c.1600G>A (p.G534S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42343563G>A" "" "VUS" "" "0000658591" "0" "30" "19" "42863318" "42863318" "subst" "0.000378195" "01943" "MEGF8_000077" "g.42863318G>A" "" "" "" "MEGF8(NM_001271938.2):c.5412G>A (p.S1804=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42359166G>A" "" "likely benign" "" "0000658592" "0" "50" "19" "42880107" "42880107" "subst" "0" "01943" "MEGF8_000078" "g.42880107G>A" "" "" "" "MEGF8(NM_001271938.2):c.7718G>A (p.G2573D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.42375955G>A" "" "VUS" "" "0000669480" "3" "10" "19" "42874901" "42874901" "subst" "0.0180918" "03575" "MEGF8_000061" "g.42874901G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs112167630}" "Germline" "" "rs112167630" "0" "" "" "g.42370749G>A" "" "benign" "" "0000669481" "3" "30" "19" "42879810" "42879810" "subst" "0.00395441" "03575" "MEGF8_000020" "g.42879810G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs45623135}" "Germline" "" "rs45623135" "0" "" "" "g.42375658G>A" "" "likely benign" "" "0000681429" "0" "30" "19" "42853802" "42853802" "subst" "0.0005745" "01943" "MEGF8_000079" "g.42853802A>G" "" "" "" "MEGF8(NM_001271938.2):c.2450A>G (p.H817R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681430" "0" "30" "19" "42866254" "42866254" "subst" "0.000161686" "01943" "MEGF8_000080" "g.42866254G>A" "" "" "" "MEGF8(NM_001271938.2):c.5733G>A (p.G1911=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681431" "0" "30" "19" "42872599" "42872599" "subst" "4.98419E-5" "01804" "MEGF8_000081" "g.42872599C>G" "" "" "" "MEGF8(NM_001271938.1):c.6274-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681432" "0" "30" "19" "42879956" "42879956" "subst" "0.000752147" "01943" "MEGF8_000022" "g.42879956A>G" "" "" "" "MEGF8(NM_001271938.1):c.7567A>G (p.(Thr2523Ala)), MEGF8(NM_001271938.2):c.7567A>G (p.T2523A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692818" "0" "50" "19" "42875578" "42875578" "subst" "0" "01943" "MEGF8_000082" "g.42875578A>T" "" "" "" "MEGF8(NM_001271938.2):c.7213A>T (p.T2405S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000692819" "0" "30" "19" "42879847" "42879847" "subst" "2.51351E-5" "01943" "MEGF8_000083" "g.42879847C>T" "" "" "" "MEGF8(NM_001271938.2):c.7458C>T (p.N2486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000692820" "0" "50" "19" "42880878" "42880878" "subst" "0" "02325" "MEGF8_000084" "g.42880878G>A" "" "" "" "MEGF8(NM_001410.3):c.8288G>A (p.G2763D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000698210" "0" "70" "19" "42874366" "42874366" "subst" "2.03591E-5" "00006" "MEGF8_000085" "g.42874366C>T" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.42370214C>T" "" "VUS" "" "0000727401" "0" "70" "19" "42830531" "42830531" "subst" "0" "02329" "MEGF8_000086" "g.42830531G>T" "" "" "" "MEGF8(NM_001271938.2):c.136G>T (p.D46Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000727402" "0" "30" "19" "42855845" "42855845" "subst" "0.000596698" "01943" "MEGF8_000087" "g.42855845C>T" "" "" "" "MEGF8(NM_001271938.2):c.3033C>T (p.T1011=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727403" "0" "50" "19" "42873756" "42873756" "subst" "0" "01943" "MEGF8_000088" "g.42873756C>T" "" "" "" "MEGF8(NM_001271938.2):c.6715C>T (p.R2239C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000727404" "0" "30" "19" "42874440" "42874440" "subst" "0.000289654" "01804" "MEGF8_000089" "g.42874440A>G" "" "" "" "MEGF8(NM_001271938.1):c.6934A>G (p.(Ile2312Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727405" "0" "70" "19" "42874984" "42874984" "subst" "0" "02329" "MEGF8_000090" "g.42874984G>A" "" "" "" "MEGF8(NM_001271938.2):c.7136+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000808905" "0" "30" "19" "42840073" "42840073" "subst" "0" "01943" "MEGF8_000091" "g.42840073T>C" "" "" "" "MEGF8(NM_001271938.2):c.829-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808906" "0" "30" "19" "42861138" "42861138" "subst" "0" "01804" "MEGF8_000092" "g.42861138G>T" "" "" "" "MEGF8(NM_001271938.1):c.4830+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808907" "0" "50" "19" "42872728" "42872728" "subst" "0.000416515" "01943" "MEGF8_000093" "g.42872728G>A" "" "" "" "MEGF8(NM_001271938.2):c.6395G>A (p.R2132Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808908" "0" "30" "19" "42874888" "42874888" "subst" "0.00230206" "01943" "MEGF8_000094" "g.42874888C>T" "" "" "" "MEGF8(NM_001271938.2):c.7041C>T (p.D2347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808909" "0" "30" "19" "42875019" "42875024" "del" "0" "02326" "MEGF8_000095" "g.42875019_42875024del" "" "" "" "MEGF8(NM_001410.3):c.6935+36_6935+41delGGGGGG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808910" "0" "50" "19" "42879864" "42879864" "subst" "4.98562E-5" "01943" "MEGF8_000096" "g.42879864C>T" "" "" "" "MEGF8(NM_001271938.2):c.7475C>T (p.T2492M, p.(Thr2492Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855604" "0" "30" "19" "42838372" "42838372" "subst" "3.29207E-5" "01943" "MEGF8_000097" "g.42838372C>T" "" "" "" "MEGF8(NM_001271938.2):c.558+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866152" "0" "30" "19" "42854337" "42854337" "subst" "0.00047239" "01943" "MEGF8_000041" "g.42854337C>T" "" "" "" "MEGF8(NM_001271938.1):c.2537C>T (p.(Ser846Leu)), MEGF8(NM_001271938.2):c.2537C>T (p.S846L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866153" "0" "30" "19" "42880565" "42880565" "subst" "0.00213521" "01804" "MEGF8_000028" "g.42880565C>T" "" "" "" "MEGF8(NM_001271938.1):c.8176C>T (p.(Arg2726Cys)), MEGF8(NM_001271938.2):c.8176C>T (p.R2726C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895021" "0" "50" "19" "42838303" "42838303" "subst" "0" "01804" "MEGF8_000098" "g.42838303G>A" "" "" "" "MEGF8(NM_001271938.1):c.496G>A (p.(Gly166Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895022" "0" "50" "19" "42841057" "42841057" "subst" "0" "01804" "MEGF8_000099" "g.42841057G>A" "" "" "" "MEGF8(NM_001271938.1):c.1343G>A (p.(Arg448Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895023" "0" "50" "19" "42854496" "42854496" "subst" "0" "02325" "MEGF8_000100" "g.42854496C>T" "" "" "" "MEGF8(NM_001410.3):c.2495C>T (p.P832L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895024" "0" "70" "19" "42860606" "42860606" "subst" "0" "02325" "MEGF8_000101" "g.42860606G>A" "" "" "" "MEGF8(NM_001410.3):c.4421+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000895025" "0" "30" "19" "42861067" "42861067" "subst" "1.25114E-5" "02326" "MEGF8_000102" "g.42861067C>T" "" "" "" "MEGF8(NM_001410.3):c.4563C>T (p.T1521=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895026" "0" "50" "19" "42875549" "42875549" "subst" "2.03179E-5" "01804" "MEGF8_000103" "g.42875549C>T" "" "" "" "MEGF8(NM_001271938.1):c.7184C>T (p.(Thr2395Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000915244" "0" "50" "19" "42863044" "42863044" "subst" "0.000479252" "01804" "MEGF8_000104" "g.42863044C>G" "" "" "" "MEGF8(NM_001271938.1):c.5281C>G (p.(Leu1761Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000926900" "0" "50" "19" "42841238" "42841238" "subst" "4.06412E-6" "01804" "MEGF8_000105" "g.42841238G>A" "" "" "" "MEGF8(NM_001271938.1):c.1393G>A (p.(Gly465Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931064" "0" "50" "19" "42880569" "42880569" "subst" "1.6581E-5" "01804" "MEGF8_000106" "g.42880569G>A" "" "" "" "MEGF8(NM_001271938.1):c.8180G>A (p.(Arg2727His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931065" "0" "50" "19" "42880863" "42880863" "subst" "0" "01804" "MEGF8_000107" "g.42880863A>G" "" "" "" "MEGF8(NM_001271938.1):c.8474A>G (p.(His2825Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969787" "0" "30" "19" "42852466" "42852466" "subst" "0.000151625" "01804" "MEGF8_000108" "g.42852466G>A" "" "" "" "MEGF8(NM_001271938.1):c.2140G>A (p.(Ala714Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983502" "0" "50" "19" "42840311" "42840311" "subst" "4.10024E-5" "01804" "MEGF8_000109" "g.42840311C>T" "" "" "" "MEGF8(NM_001271938.2):c.1057C>T (p.(Arg353Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983503" "0" "30" "19" "42853645" "42853645" "subst" "2.50261E-5" "01804" "MEGF8_000110" "g.42853645C>T" "" "" "" "MEGF8(NM_001271938.2):c.2299-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983504" "0" "50" "19" "42858176" "42858176" "subst" "0.000105691" "01804" "MEGF8_000111" "g.42858176G>A" "" "" "" "MEGF8(NM_001271938.2):c.4011G>A (p.(Thr1337=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983505" "0" "30" "19" "42858876" "42858876" "subst" "0" "01804" "MEGF8_000112" "g.42858876C>G" "" "" "" "MEGF8(NM_001271938.2):c.4144+4C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983506" "0" "30" "19" "42860345" "42860345" "subst" "0.000118415" "01804" "MEGF8_000113" "g.42860345C>T" "" "" "" "MEGF8(NM_001271938.2):c.4503C>T (p.(Ala1501=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000983507" "0" "50" "19" "42866533" "42866533" "subst" "0" "01804" "MEGF8_000114" "g.42866533C>G" "" "" "" "MEGF8(NM_001271938.2):c.5845-3C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000983508" "0" "50" "19" "42879864" "42879864" "subst" "4.98562E-5" "01804" "MEGF8_000096" "g.42879864C>T" "" "" "" "MEGF8(NM_001271938.2):c.7475C>T (p.T2492M, p.(Thr2492Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004834" "0" "50" "19" "42838273" "42838273" "subst" "0" "02325" "MEGF8_000115" "g.42838273G>A" "" "" "" "MEGF8(NM_001410.3):c.466G>A (p.G156S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004835" "0" "50" "19" "42853787" "42853787" "subst" "2.45847E-5" "01804" "MEGF8_000116" "g.42853787C>T" "" "" "" "MEGF8(NM_001410.2):c.2234C>T (p.(Ser745Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004836" "0" "50" "19" "42855822" "42855822" "subst" "0.000556228" "02325" "MEGF8_000043" "g.42855822C>T" "" "" "" "MEGF8(NM_001410.3):c.2809C>T (p.R937W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004837" "0" "50" "19" "42863277" "42863277" "subst" "7.69878E-5" "01804" "MEGF8_000117" "g.42863277G>T" "" "" "" "MEGF8(NM_001410.2):c.5170G>T (p.(Ala1724Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004838" "0" "30" "19" "42866754" "42866754" "subst" "0.000376061" "01804" "MEGF8_000056" "g.42866754G>T" "" "" "" "MEGF8(NM_001271938.2):c.6058+5G>T, MEGF8(NM_001410.2):c.5857+5G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007488" "0" "70" "19" "42840468" "42840468" "subst" "8.34244E-6" "00006" "MEGF8_000118" "g.42840468T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001271938.2:c.1214T>C" "" "Germline" "" "rs1357365314" "0" "" "" "g.42336316T>C" "" "VUS" "" "0001007489" "0" "70" "19" "42862331" "42862331" "subst" "0" "00006" "MEGF8_000120" "g.42862331A>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001271938.2:c.5047A>C" "" "Germline" "" "rs2039479548" "0" "" "" "g.42358179A>C" "" "VUS" "" "0001007490" "0" "70" "19" "42861135" "42861135" "subst" "0" "00006" "MEGF8_000119" "g.42861135T>C" "" "{PMID:Mansoorshahi 2024:39226896}" "" "NM_001271938.2:c.4830+2T>C" "" "Germline" "" "rs541733405" "0" "" "" "g.42356983T>C" "" "VUS" "" "0001022148" "0" "50" "19" "42872728" "42872728" "subst" "0.000416515" "04796" "MEGF8_000093" "g.42872728G>A" "" "" "" "" "no effect on RNA" "Germline/De novo (untested)" "" "" "0" "" "" "g.42368576G>A" "" "VUS" "" "0001042997" "0" "30" "19" "42838164" "42838164" "subst" "0.00144512" "01804" "MEGF8_000121" "g.42838164G>A" "" "" "" "MEGF8(NM_001271938.2):c.357G>A (p.(Leu119=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001042998" "0" "50" "19" "42840285" "42840285" "subst" "9.07546E-5" "01804" "MEGF8_000122" "g.42840285A>G" "" "" "" "MEGF8(NM_001271938.2):c.1031A>G (p.(Asp344Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042999" "0" "10" "19" "42840451" "42840451" "subst" "0.00805394" "01804" "MEGF8_000123" "g.42840451C>T" "" "" "" "MEGF8(NM_001271938.2):c.1197C>T (p.(Pro399=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043000" "0" "50" "19" "42854373" "42854373" "subst" "0" "01804" "MEGF8_000124" "g.42854373T>C" "" "" "" "MEGF8(NM_001271938.2):c.2573T>C (p.(Leu858Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043001" "0" "50" "19" "42855675" "42855675" "subst" "0" "01804" "MEGF8_000125" "g.42855675C>T" "" "" "" "MEGF8(NM_001271938.2):c.2950C>T (p.(Arg984Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043002" "0" "50" "19" "42855883" "42855883" "subst" "0" "01804" "MEGF8_000126" "g.42855883G>A" "" "" "" "MEGF8(NM_001271938.2):c.3071G>A (p.(Cys1024Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043003" "0" "50" "19" "42857185" "42857185" "subst" "0.000241896" "01804" "MEGF8_000045" "g.42857185G>A" "" "" "" "MEGF8(NM_001271938.2):c.3456G>A (p.P1152=, p.(Pro1152=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043004" "0" "30" "19" "42860916" "42860916" "subst" "0" "01804" "MEGF8_000127" "g.42860916C>T" "" "" "" "MEGF8(NM_001271938.2):c.4623-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043005" "0" "30" "19" "42863038" "42863038" "subst" "0.000293175" "01804" "MEGF8_000128" "g.42863038A>G" "" "" "" "MEGF8(NM_001271938.2):c.5275A>G (p.(Met1759Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043006" "0" "30" "19" "42863079" "42863079" "subst" "0.00112594" "01804" "MEGF8_000129" "g.42863079G>A" "" "" "" "MEGF8(NM_001271938.2):c.5316G>A (p.(Leu1772=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043007" "0" "30" "19" "42865072" "42865072" "subst" "0.00797219" "01804" "MEGF8_000130" "g.42865072C>T" "" "" "" "MEGF8(NM_001271938.2):c.5634C>T (p.(Arg1878=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043008" "0" "50" "19" "42866331" "42866331" "subst" "0" "01804" "MEGF8_000131" "g.42866331G>A" "" "" "" "MEGF8(NM_001271938.2):c.5810G>A (p.(Arg1937His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001043009" "0" "10" "19" "42873089" "42873089" "subst" "0.00597313" "01804" "MEGF8_000132" "g.42873089G>A" "" "" "" "MEGF8(NM_001271938.2):c.6576G>A (p.(Thr2192=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043010" "0" "30" "19" "42874333" "42874333" "subst" "0" "01804" "MEGF8_000133" "g.42874333G>T" "" "" "" "MEGF8(NM_001271938.2):c.6835-8G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043011" "0" "10" "19" "42874900" "42874900" "subst" "0.00413106" "01804" "MEGF8_000134" "g.42874900C>T" "" "" "" "MEGF8(NM_001271938.2):c.7053C>T (p.(Cys2351=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001043012" "0" "30" "19" "42874993" "42874993" "subst" "0" "01804" "MEGF8_000135" "g.42874993A>T" "" "" "" "MEGF8(NM_001271938.2):c.7136+10A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043013" "0" "30" "19" "42879826" "42879826" "subst" "2.09737E-5" "01804" "MEGF8_000136" "g.42879826C>T" "" "" "" "MEGF8(NM_001271938.2):c.7437C>T (p.(Gly2479=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001043014" "0" "30" "19" "42880815" "42880815" "subst" "0.00167081" "01804" "MEGF8_000137" "g.42880815G>A" "" "" "" "MEGF8(NM_001271938.2):c.8426G>A (p.(Arg2809Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056696" "0" "30" "19" "42838302" "42838302" "subst" "0.00202924" "01804" "MEGF8_000138" "g.42838302G>C" "" "" "" "MEGF8(NM_001271938.2):c.495G>C (p.(Gly165=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056697" "0" "30" "19" "42838372" "42838372" "subst" "3.29207E-5" "01804" "MEGF8_000097" "g.42838372C>T" "" "" "" "MEGF8(NM_001271938.2):c.558+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056698" "0" "50" "19" "42856609" "42856609" "subst" "0" "01804" "MEGF8_000139" "g.42856609G>T" "" "" "" "MEGF8(NM_001271938.2):c.3350+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056699" "0" "30" "19" "42857071" "42857071" "subst" "0" "01804" "MEGF8_000140" "g.42857071G>A" "" "" "" "MEGF8(NM_001271938.2):c.3351-9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056700" "0" "50" "19" "42862302" "42862302" "subst" "0.000245641" "01804" "MEGF8_000141" "g.42862302A>G" "" "" "" "MEGF8(NM_001271938.2):c.5018A>G (p.(Tyr1673Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056701" "0" "30" "19" "42863010" "42863010" "subst" "0" "01804" "MEGF8_000142" "g.42863010A>G" "" "" "" "MEGF8(NM_001271938.2):c.5247A>G (p.(Ser1749=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056702" "0" "30" "19" "42866373" "42866373" "subst" "8.30965E-6" "01804" "MEGF8_000143" "g.42866373G>A" "" "" "" "MEGF8(NM_001271938.2):c.5844+8G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056703" "0" "30" "19" "42872598" "42872598" "subst" "6.35976E-5" "01804" "MEGF8_000144" "g.42872598C>T" "" "" "" "MEGF8(NM_001271938.2):c.6274-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056704" "0" "50" "19" "42873882" "42873882" "subst" "0" "01804" "MEGF8_000145" "g.42873882C>T" "" "" "" "MEGF8(NM_001271938.2):c.6834+7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056705" "0" "50" "19" "42880439" "42880439" "subst" "0.000141824" "01804" "MEGF8_000146" "g.42880439C>T" "" "" "" "MEGF8(NM_001271938.2):c.8050C>T (p.(Arg2684Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057982" "1" "70" "19" "42863286" "42863286" "subst" "9.44046E-5" "00006" "MEGF8_000147" "g.42863286G>T" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.42359134G>T" "" "likely pathogenic (!)" "" "0001057989" "1" "70" "19" "42852466" "42852466" "subst" "0.000151625" "00006" "MEGF8_000108" "g.42852466G>A" "" "{PMID:Rai 2025:40543504}" "" "" "suggested digenic inheritance" "Germline" "" "" "0" "" "" "g.42348314G>A" "" "likely pathogenic (!)" "" ## 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 MEGF8 ## Count = 285 "{{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}}" "0000291730" "00025962" "30" "1902" "0" "1902" "0" "c.1902C>T" "r.(?)" "p.(Cys634=)" "" "0000291730" "00011989" "30" "1902" "0" "1902" "0" "c.1902C>T" "r.(?)" "p.(Cys634=)" "" "0000291731" "00025962" "30" "4781" "0" "4781" "0" "c.4781G>A" "r.(?)" "p.(Arg1594His)" "" "0000291731" "00011989" "30" "4580" "0" "4580" "0" "c.4580G>A" "r.(?)" "p.(Arg1527His)" "" "0000291732" "00025962" "50" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "" "0000291732" "00011989" "50" "574" "0" "574" "0" "c.574C>T" "r.(?)" "p.(Arg192Cys)" "" "0000291733" "00025962" "30" "7482" "0" "7482" "0" "c.7482C>T" "r.(?)" "p.(Asp2494=)" "" "0000291733" "00011989" "30" "7281" "0" "7281" "0" "c.7281C>T" "r.(?)" "p.(Asp2427=)" "" "0000291734" "00025962" "30" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(Arg2726Cys)" "" "0000291734" "00011989" "30" "7975" "0" "7975" "0" "c.7975C>T" "r.(?)" "p.(Arg2659Cys)" "" "0000326555" "00025962" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Pro94Leu)" "" "0000326555" "00011989" "50" "281" "0" "281" "0" "c.281C>T" "r.(?)" "p.(Pro94Leu)" "" "0000326556" "00025962" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Ter)" "" "0000326556" "00011989" "50" "283" "0" "283" "0" "c.283C>T" "r.(?)" "p.(Arg95Ter)" "" "0000326557" "00025962" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95Gln)" "" "0000326557" "00011989" "50" "284" "0" "284" "0" "c.284G>A" "r.(?)" "p.(Arg95Gln)" "" "0000326559" "00025962" "50" "1816" "0" "1816" "0" "c.1816G>C" "r.(?)" "p.(Gly606Arg)" "" "0000326559" "00011989" "50" "1816" "0" "1816" "0" "c.1816G>C" "r.(?)" "p.(Gly606Arg)" "" "0000326560" "00025962" "50" "2477" "0" "2477" "0" "c.2477G>A" "r.(?)" "p.(Arg826Gln)" "" "0000326560" "00011989" "50" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Arg759Gln)" "" "0000326561" "00025962" "50" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Ser869Asn)" "" "0000326561" "00011989" "50" "2405" "0" "2405" "0" "c.2405G>A" "r.(?)" "p.(Ser802Asn)" "" "0000326563" "00025962" "50" "4441" "0" "4441" "0" "c.4441G>A" "r.(?)" "p.(Ala1481Thr)" "" "0000326563" "00011989" "50" "4240" "0" "4240" "0" "c.4240G>A" "r.(?)" "p.(Ala1414Thr)" "" "0000326564" "00025962" "50" "4733" "0" "4733" "0" "c.4733G>A" "r.(?)" "p.(Arg1578His)" "" "0000326564" "00011989" "50" "4532" "0" "4532" "0" "c.4532G>A" "r.(?)" "p.(Arg1511His)" "" "0000326566" "00025962" "30" "5707" "0" "5707" "0" "c.5707G>C" "r.(?)" "p.(Asp1903His)" "" "0000326566" "00011989" "30" "5506" "0" "5506" "0" "c.5506G>C" "r.(?)" "p.(Asp1836His)" "" "0000326567" "00025962" "50" "6143" "0" "6143" "0" "c.6143C>T" "r.(?)" "p.(Pro2048Leu)" "" "0000326567" "00011989" "50" "5942" "0" "5942" "0" "c.5942C>T" "r.(?)" "p.(Pro1981Leu)" "" "0000326568" "00025962" "30" "7048" "0" "7048" "0" "c.7048G>A" "r.(?)" "p.(Val2350Met)" "" "0000326568" "00011989" "30" "6847" "0" "6847" "0" "c.6847G>A" "r.(?)" "p.(Val2283Met)" "" "0000326570" "00025962" "50" "7420" "0" "7420" "0" "c.7420C>T" "r.(?)" "p.(Arg2474Cys)" "" "0000326570" "00011989" "50" "7219" "0" "7219" "0" "c.7219C>T" "r.(?)" "p.(Arg2407Cys)" "" "0000326571" "00025962" "30" "7421" "0" "7421" "0" "c.7421G>A" "r.(?)" "p.(Arg2474His)" "" "0000326571" "00011989" "30" "7220" "0" "7220" "0" "c.7220G>A" "r.(?)" "p.(Arg2407His)" "" "0000326572" "00025962" "30" "7567" "0" "7567" "0" "c.7567A>G" "r.(?)" "p.(Thr2523Ala)" "" "0000326572" "00011989" "30" "7366" "0" "7366" "0" "c.7366A>G" "r.(?)" "p.(Thr2456Ala)" "" "0000326574" "00025962" "30" "7673" "0" "7673" "0" "c.7673C>T" "r.(?)" "p.(Pro2558Leu)" "" "0000326574" "00011989" "30" "7472" "0" "7472" "0" "c.7472C>T" "r.(?)" "p.(Pro2491Leu)" "" "0000326575" "00025962" "30" "7705" "0" "7705" "0" "c.7705G>A" "r.(?)" "p.(Val2569Ile)" "" "0000326575" "00011989" "30" "7504" "0" "7504" "0" "c.7504G>A" "r.(?)" "p.(Val2502Ile)" "" "0000326576" "00025962" "50" "7774" "0" "7774" "0" "c.7774G>A" "r.(?)" "p.(Val2592Met)" "" "0000326576" "00011989" "50" "7573" "0" "7573" "0" "c.7573G>A" "r.(?)" "p.(Val2525Met)" "" "0000326579" "00025962" "50" "8219" "0" "8219" "0" "c.8219C>T" "r.(?)" "p.(Ala2740Val)" "" "0000326579" "00011989" "50" "8018" "0" "8018" "0" "c.8018C>T" "r.(?)" "p.(Ala2673Val)" "" "0000326580" "00025962" "50" "8450" "0" "8450" "0" "c.8450G>C" "r.(?)" "p.(Gly2817Ala)" "" "0000326580" "00011989" "50" "8249" "0" "8249" "0" "c.8249G>C" "r.(?)" "p.(Gly2750Ala)" "" "0000567527" "00025962" "30" "-1488" "0" "-1488" "0" "c.-1488C>G" "r.(?)" "p.(=)" "" "0000567527" "00011989" "30" "-1488" "0" "-1488" "0" "c.-1488C>G" "r.(?)" "p.(=)" "" "0000567528" "00025962" "50" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Gly42Arg)" "" "0000567528" "00011989" "50" "124" "0" "124" "0" "c.124G>C" "r.(?)" "p.(Gly42Arg)" "" "0000567529" "00025962" "30" "428" "0" "428" "0" "c.428C>G" "r.(?)" "p.(Pro143Arg)" "" "0000567529" "00011989" "30" "428" "0" "428" "0" "c.428C>G" "r.(?)" "p.(Pro143Arg)" "" "0000567532" "00025962" "30" "740" "-6" "740" "-6" "c.740-6C>T" "r.(=)" "p.(=)" "" "0000567532" "00011989" "30" "740" "-6" "740" "-6" "c.740-6C>T" "r.(=)" "p.(=)" "" "0000567533" "00025962" "30" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Val285Met)" "" "0000567533" "00011989" "30" "853" "0" "853" "0" "c.853G>A" "r.(?)" "p.(Val285Met)" "" "0000567537" "00025962" "50" "2477" "0" "2477" "0" "c.2477G>A" "r.(?)" "p.(Arg826Gln)" "" "0000567537" "00011989" "50" "2276" "0" "2276" "0" "c.2276G>A" "r.(?)" "p.(Arg759Gln)" "" "0000567538" "00025962" "30" "2537" "0" "2537" "0" "c.2537C>T" "r.(?)" "p.(Ser846Leu)" "" "0000567538" "00011989" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Ser779Leu)" "" "0000567539" "00025962" "30" "2632" "0" "2632" "0" "c.2632G>A" "r.(?)" "p.(Gly878Arg)" "" "0000567539" "00011989" "30" "2431" "0" "2431" "0" "c.2431G>A" "r.(?)" "p.(Gly811Arg)" "" "0000567541" "00025962" "30" "3351" "-3" "3351" "-3" "c.3351-3C>T" "r.spl?" "p.?" "" "0000567541" "00011989" "30" "3150" "-3" "3150" "-3" "c.3150-3C>T" "r.spl?" "p.?" "" "0000567542" "00025962" "50" "3456" "0" "3456" "0" "c.3456G>A" "r.(?)" "p.(Pro1152=)" "" "0000567542" "00011989" "50" "3255" "0" "3255" "0" "c.3255G>A" "r.(?)" "p.(Pro1085=)" "" "0000567544" "00025962" "30" "3762" "0" "3762" "0" "c.3762G>C" "r.(?)" "p.(Arg1254=)" "" "0000567544" "00011989" "30" "3561" "0" "3561" "0" "c.3561G>C" "r.(?)" "p.(Arg1187=)" "" "0000567545" "00025962" "30" "4393" "-5" "4393" "-5" "c.4393-5C>A" "r.spl?" "p.?" "" "0000567545" "00011989" "30" "4192" "-5" "4192" "-5" "c.4192-5C>A" "r.spl?" "p.?" "" "0000567546" "00025962" "50" "4529" "0" "4529" "0" "c.4529G>A" "r.(?)" "p.(Arg1510His)" "" "0000567546" "00011989" "50" "4328" "0" "4328" "0" "c.4328G>A" "r.(?)" "p.(Arg1443His)" "" "0000567548" "00025962" "30" "4781" "0" "4781" "0" "c.4781G>A" "r.(?)" "p.(Arg1594His)" "" "0000567548" "00011989" "30" "4580" "0" "4580" "0" "c.4580G>A" "r.(?)" "p.(Arg1527His)" "" "0000567550" "00025962" "50" "5112" "0" "5112" "0" "c.5112G>T" "r.(?)" "p.(Glu1704Asp)" "" "0000567550" "00011989" "50" "4911" "0" "4911" "0" "c.4911G>T" "r.(?)" "p.(Glu1637Asp)" "" "0000567551" "00025962" "30" "5320" "0" "5320" "0" "c.5320G>C" "r.(?)" "p.(Glu1774Gln)" "" "0000567551" "00011989" "30" "5119" "0" "5119" "0" "c.5119G>C" "r.(?)" "p.(Glu1707Gln)" "" "0000567552" "00025962" "50" "5452" "0" "5452" "0" "c.5452G>C" "r.(?)" "p.(Val1818Leu)" "" "0000567552" "00011989" "50" "5251" "0" "5251" "0" "c.5251G>C" "r.(?)" "p.(Val1751Leu)" "" "0000567553" "00025962" "50" "5704" "0" "5704" "0" "c.5704G>C" "r.(?)" "p.(Gly1902Arg)" "" "0000567553" "00011989" "50" "5503" "0" "5503" "0" "c.5503G>C" "r.(?)" "p.(Gly1835Arg)" "" "0000567554" "00025962" "30" "6058" "5" "6058" "5" "c.6058+5G>T" "r.spl?" "p.?" "" "0000567554" "00011989" "30" "5857" "5" "5857" "5" "c.5857+5G>T" "r.spl?" "p.?" "" "0000567556" "00025962" "30" "6359" "0" "6359" "0" "c.6359G>C" "r.(?)" "p.(Gly2120Ala)" "" "0000567556" "00011989" "30" "6158" "0" "6158" "0" "c.6158G>C" "r.(?)" "p.(Gly2053Ala)" "" "0000567559" "00025962" "30" "7054" "0" "7054" "0" "c.7054G>A" "r.(?)" "p.(Val2352Met)" "" "0000567559" "00011989" "30" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Met)" "" "0000567560" "00025962" "30" "7421" "0" "7421" "0" "c.7421G>A" "r.(?)" "p.(Arg2474His)" "" "0000567560" "00011989" "30" "7220" "0" "7220" "0" "c.7220G>A" "r.(?)" "p.(Arg2407His)" "" "0000567561" "00025962" "30" "7464" "0" "7464" "0" "c.7464C>T" "r.(?)" "p.(Asp2488=)" "" "0000567561" "00011989" "30" "7263" "0" "7263" "0" "c.7263C>T" "r.(?)" "p.(Asp2421=)" "" "0000567562" "00025962" "50" "7630" "0" "7630" "0" "c.7630C>T" "r.(?)" "p.(Arg2544Trp)" "" "0000567562" "00011989" "50" "7429" "0" "7429" "0" "c.7429C>T" "r.(?)" "p.(Arg2477Trp)" "" "0000567564" "00025962" "30" "7705" "0" "7705" "0" "c.7705G>A" "r.(?)" "p.(Val2569Ile)" "" "0000567564" "00011989" "30" "7504" "0" "7504" "0" "c.7504G>A" "r.(?)" "p.(Val2502Ile)" "" "0000567565" "00025962" "30" "7713" "0" "7713" "0" "c.7713G>A" "r.(?)" "p.(Pro2571=)" "" "0000567565" "00011989" "30" "7512" "0" "7512" "0" "c.7512G>A" "r.(?)" "p.(Pro2504=)" "" "0000567566" "00025962" "30" "8271" "0" "8271" "0" "c.8271C>T" "r.(?)" "p.(Pro2757=)" "" "0000567566" "00011989" "30" "8070" "0" "8070" "0" "c.8070C>T" "r.(?)" "p.(Pro2690=)" "" "0000617649" "00025962" "30" "2454" "0" "2454" "0" "c.2454C>T" "r.(?)" "p.(Ser818=)" "" "0000617649" "00011989" "30" "2253" "0" "2253" "0" "c.2253C>T" "r.(?)" "p.(Ser751=)" "" "0000617650" "00025962" "50" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Pro1131Leu)" "" "0000617650" "00011989" "50" "3191" "0" "3191" "0" "c.3191C>T" "r.(?)" "p.(Pro1064Leu)" "" "0000617651" "00025962" "50" "3481" "0" "3481" "0" "c.3481C>T" "r.(?)" "p.(Arg1161Trp)" "" "0000617651" "00011989" "50" "3280" "0" "3280" "0" "c.3280C>T" "r.(?)" "p.(Arg1094Trp)" "" "0000617652" "00025962" "30" "4079" "0" "4079" "0" "c.4079G>A" "r.(?)" "p.(Arg1360His)" "" "0000617652" "00011989" "30" "3878" "0" "3878" "0" "c.3878G>A" "r.(?)" "p.(Arg1293His)" "" "0000617653" "00025962" "50" "4144" "4" "4144" "4" "c.4144+4C>T" "r.spl?" "p.?" "" "0000617653" "00011989" "50" "3943" "4" "3943" "4" "c.3943+4C>T" "r.spl?" "p.?" "" "0000617654" "00025962" "50" "4837" "0" "4837" "0" "c.4837C>A" "r.(?)" "p.(Gln1613Lys)" "" "0000617654" "00011989" "50" "4636" "0" "4636" "0" "c.4636C>A" "r.(?)" "p.(Gln1546Lys)" "" "0000617655" "00025962" "30" "8467" "0" "8467" "0" "c.8467A>G" "r.(?)" "p.(Ser2823Gly)" "" "0000617655" "00011989" "30" "8266" "0" "8266" "0" "c.8266A>G" "r.(?)" "p.(Ser2756Gly)" "" "0000624018" "00025962" "30" "5823" "0" "5823" "0" "c.5823C>T" "r.(?)" "p.(Thr1941=)" "" "0000624018" "00011989" "30" "5622" "0" "5622" "0" "c.5622C>T" "r.(?)" "p.(Thr1874=)" "" "0000624019" "00025962" "50" "7774" "0" "7774" "0" "c.7774G>A" "r.(?)" "p.(Val2592Met)" "" "0000624019" "00011989" "50" "7573" "0" "7573" "0" "c.7573G>A" "r.(?)" "p.(Val2525Met)" "" "0000649999" "00025962" "10" "7054" "0" "7054" "0" "c.7054G>A" "r.(?)" "p.(Val2352Met)" "" "0000649999" "00011989" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Met)" "" "0000650000" "00025962" "30" "7421" "0" "7421" "0" "c.7421G>A" "r.(?)" "p.(Arg2474His)" "" "0000650000" "00011989" "30" "7220" "0" "7220" "0" "c.7220G>A" "r.(?)" "p.(Arg2407His)" "" "0000658590" "00025962" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Gly534Ser)" "" "0000658590" "00011989" "50" "1600" "0" "1600" "0" "c.1600G>A" "r.(?)" "p.(Gly534Ser)" "" "0000658591" "00025962" "30" "5412" "0" "5412" "0" "c.5412G>A" "r.(?)" "p.(Ser1804=)" "" "0000658591" "00011989" "30" "5211" "0" "5211" "0" "c.5211G>A" "r.(?)" "p.(Ser1737=)" "" "0000658592" "00025962" "50" "7718" "0" "7718" "0" "c.7718G>A" "r.(?)" "p.(Gly2573Asp)" "" "0000658592" "00011989" "50" "7517" "0" "7517" "0" "c.7517G>A" "r.(?)" "p.(Gly2506Asp)" "" "0000669480" "00025962" "10" "7054" "0" "7054" "0" "c.7054G>A" "r.(?)" "p.(Val2352Met)" "" "0000669480" "00011989" "10" "6853" "0" "6853" "0" "c.6853G>A" "r.(?)" "p.(Val2285Met)" "" "0000669481" "00025962" "30" "7421" "0" "7421" "0" "c.7421G>A" "r.(?)" "p.(Arg2474His)" "" "0000669481" "00011989" "30" "7220" "0" "7220" "0" "c.7220G>A" "r.(?)" "p.(Arg2407His)" "" "0000681429" "00025962" "30" "2450" "0" "2450" "0" "c.2450A>G" "r.(?)" "p.(His817Arg)" "" "0000681429" "00011989" "30" "2249" "0" "2249" "0" "c.2249A>G" "r.(?)" "p.(His750Arg)" "" "0000681430" "00025962" "30" "5733" "0" "5733" "0" "c.5733G>A" "r.(?)" "p.(Gly1911=)" "" "0000681430" "00011989" "30" "5532" "0" "5532" "0" "c.5532G>A" "r.(?)" "p.(Gly1844=)" "" "0000681431" "00025962" "30" "6274" "-8" "6274" "-8" "c.6274-8C>G" "r.(=)" "p.(=)" "" "0000681431" "00011989" "30" "6073" "-8" "6073" "-8" "c.6073-8C>G" "r.(=)" "p.(=)" "" "0000681432" "00025962" "30" "7567" "0" "7567" "0" "c.7567A>G" "r.(?)" "p.(Thr2523Ala)" "" "0000681432" "00011989" "30" "7366" "0" "7366" "0" "c.7366A>G" "r.(?)" "p.(Thr2456Ala)" "" "0000692818" "00025962" "50" "7213" "0" "7213" "0" "c.7213A>T" "r.(?)" "p.(Thr2405Ser)" "" "0000692818" "00011989" "50" "7012" "0" "7012" "0" "c.7012A>T" "r.(?)" "p.(Thr2338Ser)" "" "0000692819" "00025962" "30" "7458" "0" "7458" "0" "c.7458C>T" "r.(?)" "p.(Asn2486=)" "" "0000692819" "00011989" "30" "7257" "0" "7257" "0" "c.7257C>T" "r.(?)" "p.(Asn2419=)" "" "0000692820" "00025962" "50" "8489" "0" "8489" "0" "c.8489G>A" "r.(?)" "p.(Gly2830Asp)" "" "0000692820" "00011989" "50" "8288" "0" "8288" "0" "c.8288G>A" "r.(?)" "p.(Gly2763Asp)" "" "0000698210" "00011989" "70" "6659" "0" "6659" "0" "c.6659C>T" "r.(?)" "p.(Pro2220Leu)" "" "0000727401" "00025962" "70" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Asp46Tyr)" "" "0000727401" "00011989" "70" "136" "0" "136" "0" "c.136G>T" "r.(?)" "p.(Asp46Tyr)" "" "0000727402" "00025962" "30" "3033" "0" "3033" "0" "c.3033C>T" "r.(?)" "p.(Thr1011=)" "" "0000727402" "00011989" "30" "2832" "0" "2832" "0" "c.2832C>T" "r.(?)" "p.(Thr944=)" "" "0000727403" "00025962" "50" "6715" "0" "6715" "0" "c.6715C>T" "r.(?)" "p.(Arg2239Cys)" "" "0000727403" "00011989" "50" "6514" "0" "6514" "0" "c.6514C>T" "r.(?)" "p.(Arg2172Cys)" "" "0000727404" "00025962" "30" "6934" "0" "6934" "0" "c.6934A>G" "r.(?)" "p.(Ile2312Val)" "" "0000727404" "00011989" "30" "6733" "0" "6733" "0" "c.6733A>G" "r.(?)" "p.(Ile2245Val)" "" "0000727405" "00025962" "70" "7136" "1" "7136" "1" "c.7136+1G>A" "r.spl?" "p.?" "" "0000727405" "00011989" "70" "6935" "1" "6935" "1" "c.6935+1G>A" "r.spl?" "p.?" "" "0000808905" "00025962" "30" "829" "-10" "829" "-10" "c.829-10T>C" "r.(=)" "p.(=)" "" "0000808905" "00011989" "30" "829" "-10" "829" "-10" "c.829-10T>C" "r.(=)" "p.(=)" "" "0000808906" "00025962" "30" "4830" "5" "4830" "5" "c.4830+5G>T" "r.spl?" "p.?" "" "0000808906" "00011989" "30" "4629" "5" "4629" "5" "c.4629+5G>T" "r.spl?" "p.?" "" "0000808907" "00025962" "50" "6395" "0" "6395" "0" "c.6395G>A" "r.(?)" "p.(Arg2132Gln)" "" "0000808907" "00011989" "50" "6194" "0" "6194" "0" "c.6194G>A" "r.(?)" "p.(Arg2065Gln)" "" "0000808908" "00025962" "30" "7041" "0" "7041" "0" "c.7041C>T" "r.(?)" "p.(Asp2347=)" "" "0000808908" "00011989" "30" "6840" "0" "6840" "0" "c.6840C>T" "r.(?)" "p.(Asp2280=)" "" "0000808909" "00025962" "30" "7136" "36" "7136" "41" "c.7136+36_7136+41del" "r.(=)" "p.(=)" "" "0000808909" "00011989" "30" "6935" "36" "6935" "41" "c.6935+36_6935+41del" "r.(=)" "p.(=)" "" "0000808910" "00025962" "50" "7475" "0" "7475" "0" "c.7475C>T" "r.(?)" "p.(Thr2492Met)" "" "0000808910" "00011989" "50" "7274" "0" "7274" "0" "c.7274C>T" "r.(?)" "p.(Thr2425Met)" "" "0000855604" "00025962" "30" "558" "7" "558" "7" "c.558+7C>T" "r.(=)" "p.(=)" "" "0000855604" "00011989" "30" "558" "7" "558" "7" "c.558+7C>T" "r.(=)" "p.(=)" "" "0000866152" "00025962" "30" "2537" "0" "2537" "0" "c.2537C>T" "r.(?)" "p.(Ser846Leu)" "" "0000866152" "00011989" "30" "2336" "0" "2336" "0" "c.2336C>T" "r.(?)" "p.(Ser779Leu)" "" "0000866153" "00025962" "30" "8176" "0" "8176" "0" "c.8176C>T" "r.(?)" "p.(Arg2726Cys)" "" "0000866153" "00011989" "30" "7975" "0" "7975" "0" "c.7975C>T" "r.(?)" "p.(Arg2659Cys)" "" "0000895021" "00025962" "50" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Gly166Ser)" "" "0000895021" "00011989" "50" "496" "0" "496" "0" "c.496G>A" "r.(?)" "p.(Gly166Ser)" "" "0000895022" "00025962" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0000895022" "00011989" "50" "1343" "0" "1343" "0" "c.1343G>A" "r.(?)" "p.(Arg448Gln)" "" "0000895023" "00025962" "50" "2696" "0" "2696" "0" "c.2696C>T" "r.(?)" "p.(Pro899Leu)" "" "0000895023" "00011989" "50" "2495" "0" "2495" "0" "c.2495C>T" "r.(?)" "p.(Pro832Leu)" "" "0000895024" "00025962" "70" "4622" "1" "4622" "1" "c.4622+1G>A" "r.spl?" "p.?" "" "0000895024" "00011989" "70" "4421" "1" "4421" "1" "c.4421+1G>A" "r.spl?" "p.?" "" "0000895025" "00025962" "30" "4764" "0" "4764" "0" "c.4764C>T" "r.(?)" "p.(Thr1588=)" "" "0000895025" "00011989" "30" "4563" "0" "4563" "0" "c.4563C>T" "r.(?)" "p.(Thr1521=)" "" "0000895026" "00025962" "50" "7184" "0" "7184" "0" "c.7184C>T" "r.(?)" "p.(Thr2395Met)" "" "0000895026" "00011989" "50" "6983" "0" "6983" "0" "c.6983C>T" "r.(?)" "p.(Thr2328Met)" "" "0000915244" "00025962" "50" "5281" "0" "5281" "0" "c.5281C>G" "r.(?)" "p.(Leu1761Val)" "" "0000915244" "00011989" "50" "5080" "0" "5080" "0" "c.5080C>G" "r.(?)" "p.(Leu1694Val)" "" "0000926900" "00025962" "50" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Gly465Ser)" "" "0000926900" "00011989" "50" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Gly465Ser)" "" "0000931064" "00025962" "50" "8180" "0" "8180" "0" "c.8180G>A" "r.(?)" "p.(Arg2727His)" "" "0000931064" "00011989" "50" "7979" "0" "7979" "0" "c.7979G>A" "r.(?)" "p.(Arg2660His)" "" "0000931065" "00025962" "50" "8474" "0" "8474" "0" "c.8474A>G" "r.(?)" "p.(His2825Arg)" "" "0000931065" "00011989" "50" "8273" "0" "8273" "0" "c.8273A>G" "r.(?)" "p.(His2758Arg)" "" "0000969787" "00025962" "30" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Ala714Thr)" "" "0000969787" "00011989" "30" "2098" "-1185" "2098" "-1185" "c.2098-1185G>A" "r.(=)" "p.(=)" "" "0000983502" "00025962" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Cys)" "" "0000983502" "00011989" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Cys)" "" "0000983503" "00025962" "30" "2299" "-6" "2299" "-6" "c.2299-6C>T" "r.(=)" "p.(=)" "" "0000983503" "00011989" "30" "2098" "-6" "2098" "-6" "c.2098-6C>T" "r.(=)" "p.(=)" "" "0000983504" "00025962" "50" "4011" "0" "4011" "0" "c.4011G>A" "r.(?)" "p.(=)" "" "0000983504" "00011989" "50" "3810" "0" "3810" "0" "c.3810G>A" "r.(?)" "p.(=)" "" "0000983505" "00025962" "30" "4144" "4" "4144" "4" "c.4144+4C>G" "r.spl?" "p.?" "" "0000983505" "00011989" "30" "3943" "4" "3943" "4" "c.3943+4C>G" "r.spl?" "p.?" "" "0000983506" "00025962" "30" "4503" "0" "4503" "0" "c.4503C>T" "r.(?)" "p.(=)" "" "0000983506" "00011989" "30" "4302" "0" "4302" "0" "c.4302C>T" "r.(?)" "p.(=)" "" "0000983507" "00025962" "50" "5845" "-3" "5845" "-3" "c.5845-3C>G" "r.spl?" "p.?" "" "0000983507" "00011989" "50" "5644" "-3" "5644" "-3" "c.5644-3C>G" "r.spl?" "p.?" "" "0000983508" "00025962" "50" "7475" "0" "7475" "0" "c.7475C>T" "r.(?)" "p.(Thr2492Met)" "" "0000983508" "00011989" "50" "7274" "0" "7274" "0" "c.7274C>T" "r.(?)" "p.(Thr2425Met)" "" "0001004834" "00025962" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Ser)" "" "0001004834" "00011989" "50" "466" "0" "466" "0" "c.466G>A" "r.(?)" "p.(Gly156Ser)" "" "0001004835" "00025962" "50" "2435" "0" "2435" "0" "c.2435C>T" "r.(?)" "p.(Ser812Leu)" "" "0001004835" "00011989" "50" "2234" "0" "2234" "0" "c.2234C>T" "r.(?)" "p.(Ser745Leu)" "" "0001004836" "00025962" "50" "3010" "0" "3010" "0" "c.3010C>T" "r.(?)" "p.(Arg1004Trp)" "" "0001004836" "00011989" "50" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Arg937Trp)" "" "0001004837" "00025962" "50" "5371" "0" "5371" "0" "c.5371G>T" "r.(?)" "p.(Ala1791Ser)" "" "0001004837" "00011989" "50" "5170" "0" "5170" "0" "c.5170G>T" "r.(?)" "p.(Ala1724Ser)" "" "0001004838" "00025962" "30" "6058" "5" "6058" "5" "c.6058+5G>T" "r.spl?" "p.?" "" "0001004838" "00011989" "30" "5857" "5" "5857" "5" "c.5857+5G>T" "r.spl?" "p.?" "" "0001007488" "00011989" "70" "1214" "0" "1214" "0" "c.1214T>C" "r.(?)" "p.(Val405Ala)" "" "0001007489" "00011989" "70" "4846" "0" "4846" "0" "c.4846A>C" "r.(?)" "p.(Thr1616Pro)" "" "0001007490" "00011989" "70" "4629" "2" "4629" "2" "c.4629+2T>C" "r.spl" "p.?" "" "0001022148" "00025962" "50" "6395" "0" "6395" "0" "c.6395G>A" "r.6395G>A" "p.Arg2132Gln" "36" "0001042997" "00025962" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(=)" "" "0001042997" "00011989" "30" "357" "0" "357" "0" "c.357G>A" "r.(?)" "p.(=)" "" "0001042998" "00025962" "50" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Asp344Gly)" "" "0001042998" "00011989" "50" "1031" "0" "1031" "0" "c.1031A>G" "r.(?)" "p.(Asp344Gly)" "" "0001042999" "00025962" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(=)" "" "0001042999" "00011989" "10" "1197" "0" "1197" "0" "c.1197C>T" "r.(?)" "p.(=)" "" "0001043000" "00025962" "50" "2573" "0" "2573" "0" "c.2573T>C" "r.(?)" "p.(Leu858Ser)" "" "0001043000" "00011989" "50" "2372" "0" "2372" "0" "c.2372T>C" "r.(?)" "p.(Leu791Ser)" "" "0001043001" "00025962" "50" "2950" "0" "2950" "0" "c.2950C>T" "r.(?)" "p.(Arg984Trp)" "" "0001043001" "00011989" "50" "2749" "0" "2749" "0" "c.2749C>T" "r.(?)" "p.(Arg917Trp)" "" "0001043002" "00025962" "50" "3071" "0" "3071" "0" "c.3071G>A" "r.(?)" "p.(Cys1024Tyr)" "" "0001043002" "00011989" "50" "2870" "0" "2870" "0" "c.2870G>A" "r.(?)" "p.(Cys957Tyr)" "" "0001043003" "00025962" "50" "3456" "0" "3456" "0" "c.3456G>A" "r.(?)" "p.(Pro1152=)" "" "0001043003" "00011989" "50" "3255" "0" "3255" "0" "c.3255G>A" "r.(?)" "p.(Pro1085=)" "" "0001043004" "00025962" "30" "4623" "-10" "4623" "-10" "c.4623-10C>T" "r.(=)" "p.(=)" "" "0001043004" "00011989" "30" "4422" "-10" "4422" "-10" "c.4422-10C>T" "r.(=)" "p.(=)" "" "0001043005" "00025962" "30" "5275" "0" "5275" "0" "c.5275A>G" "r.(?)" "p.(Met1759Val)" "" "0001043005" "00011989" "30" "5074" "0" "5074" "0" "c.5074A>G" "r.(?)" "p.(Met1692Val)" "" "0001043006" "00025962" "30" "5316" "0" "5316" "0" "c.5316G>A" "r.(?)" "p.(=)" "" "0001043006" "00011989" "30" "5115" "0" "5115" "0" "c.5115G>A" "r.(?)" "p.(=)" "" "0001043007" "00025962" "30" "5634" "0" "5634" "0" "c.5634C>T" "r.(?)" "p.(=)" "" "0001043007" "00011989" "30" "5433" "0" "5433" "0" "c.5433C>T" "r.(?)" "p.(=)" "" "0001043008" "00025962" "50" "5810" "0" "5810" "0" "c.5810G>A" "r.(?)" "p.(Arg1937His)" "" "0001043008" "00011989" "50" "5609" "0" "5609" "0" "c.5609G>A" "r.(?)" "p.(Arg1870His)" "" "0001043009" "00025962" "10" "6576" "0" "6576" "0" "c.6576G>A" "r.(?)" "p.(=)" "" "0001043009" "00011989" "10" "6375" "0" "6375" "0" "c.6375G>A" "r.(?)" "p.(=)" "" "0001043010" "00025962" "30" "6835" "-8" "6835" "-8" "c.6835-8G>T" "r.(=)" "p.(=)" "" "0001043010" "00011989" "30" "6634" "-8" "6634" "-8" "c.6634-8G>T" "r.(=)" "p.(=)" "" "0001043011" "00025962" "10" "7053" "0" "7053" "0" "c.7053C>T" "r.(?)" "p.(=)" "" "0001043011" "00011989" "10" "6852" "0" "6852" "0" "c.6852C>T" "r.(?)" "p.(=)" "" "0001043012" "00025962" "30" "7136" "10" "7136" "10" "c.7136+10A>T" "r.(=)" "p.(=)" "" "0001043012" "00011989" "30" "6935" "10" "6935" "10" "c.6935+10A>T" "r.(=)" "p.(=)" "" "0001043013" "00025962" "30" "7437" "0" "7437" "0" "c.7437C>T" "r.(?)" "p.(=)" "" "0001043013" "00011989" "30" "7236" "0" "7236" "0" "c.7236C>T" "r.(?)" "p.(=)" "" "0001043014" "00025962" "30" "8426" "0" "8426" "0" "c.8426G>A" "r.(?)" "p.(Arg2809Lys)" "" "0001043014" "00011989" "30" "8225" "0" "8225" "0" "c.8225G>A" "r.(?)" "p.(Arg2742Lys)" "" "0001056696" "00025962" "30" "495" "0" "495" "0" "c.495G>C" "r.(?)" "p.(=)" "" "0001056696" "00011989" "30" "495" "0" "495" "0" "c.495G>C" "r.(?)" "p.(=)" "" "0001056697" "00025962" "30" "558" "7" "558" "7" "c.558+7C>T" "r.(=)" "p.(=)" "" "0001056697" "00011989" "30" "558" "7" "558" "7" "c.558+7C>T" "r.(=)" "p.(=)" "" "0001056698" "00025962" "50" "3350" "1" "3350" "1" "c.3350+1G>T" "r.spl?" "p.?" "" "0001056698" "00011989" "50" "3149" "1" "3149" "1" "c.3149+1G>T" "r.spl?" "p.?" "" "0001056699" "00025962" "30" "3351" "-9" "3351" "-9" "c.3351-9G>A" "r.(=)" "p.(=)" "" "0001056699" "00011989" "30" "3150" "-9" "3150" "-9" "c.3150-9G>A" "r.(=)" "p.(=)" "" "0001056700" "00025962" "50" "5018" "0" "5018" "0" "c.5018A>G" "r.(?)" "p.(Tyr1673Cys)" "" "0001056700" "00011989" "50" "4817" "0" "4817" "0" "c.4817A>G" "r.(?)" "p.(Tyr1606Cys)" "" "0001056701" "00025962" "30" "5247" "0" "5247" "0" "c.5247A>G" "r.(?)" "p.(=)" "" "0001056701" "00011989" "30" "5046" "0" "5046" "0" "c.5046A>G" "r.(?)" "p.(=)" "" "0001056702" "00025962" "30" "5844" "8" "5844" "8" "c.5844+8G>A" "r.(=)" "p.(=)" "" "0001056702" "00011989" "30" "5643" "8" "5643" "8" "c.5643+8G>A" "r.(=)" "p.(=)" "" "0001056703" "00025962" "30" "6274" "-9" "6274" "-9" "c.6274-9C>T" "r.(=)" "p.(=)" "" "0001056703" "00011989" "30" "6073" "-9" "6073" "-9" "c.6073-9C>T" "r.(=)" "p.(=)" "" "0001056704" "00025962" "50" "6834" "7" "6834" "7" "c.6834+7C>T" "r.(=)" "p.(=)" "" "0001056704" "00011989" "50" "6633" "7" "6633" "7" "c.6633+7C>T" "r.(=)" "p.(=)" "" "0001056705" "00025962" "50" "8050" "0" "8050" "0" "c.8050C>T" "r.(?)" "p.(Arg2684Trp)" "" "0001056705" "00011989" "50" "7849" "0" "7849" "0" "c.7849C>T" "r.(?)" "p.(Arg2617Trp)" "" "0001057982" "00025962" "70" "5380" "0" "5380" "0" "c.5380G>T" "r.(?)" "p.(Gly1794Trp)" "" "0001057989" "00025962" "70" "2140" "0" "2140" "0" "c.2140G>A" "r.(?)" "p.(Ala714Thr)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000293310" "0000649999" "0000293311" "0000650000" "0000305792" "0000669480" "0000305793" "0000669481" "0000316084" "0000698210" "0000455381" "0001007488" "0000455382" "0001007489" "0000455383" "0001007490" "0000462621" "0001022148" "0000469930" "0001057982" "0000469937" "0001057989"