### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MAN2B2) # 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}}" "MAN2B2" "mannosidase, alpha, class 2B, member 2" "4" "p16.2" "unknown" "NC_000004.11" "UD_132438575223" "" "https://www.LOVD.nl/MAN2B2" "" "1" "29623" "23324" "618899" "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/MAN2B2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-31 12:10:44" "00000" "2025-07-08 13:22:38" ## 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}}" "00011721" "MAN2B2" "mannosidase, alpha, class 2B, member 2" "001" "NM_015274.1" "" "NP_056089.1" "" "" "" "-36" "4206" "3030" "6576902" "6624188" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00387812" "" "" "" "3" "" "00006" "{PMID:Hu 2019:29302074}" "family, 3 affected individuals, first cousin parents" "" "yes" "" "" "0" "" "" "Baloch" "M8700069" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00387812" "00139" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000281380" "00139" "00387812" "00006" "Familial, autosomal recessive" "" "syndromic intellectual disability, microcephaly (SD-3.3)" "" "" "" "" "" "" "" "" "intellectual disability" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000389043" "00387812" "1" "00006" "00006" "2021-10-31 12:02:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000389043" "MAN2B2" ## 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 = 46 "{{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}}" "0000255179" "0" "30" "4" "6611755" "6611755" "subst" "1.21937E-5" "01943" "MAN2B2_000002" "g.6611755A>G" "" "" "" "MAN2B2(NM_015274.2):c.2237A>G (p.Y746C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6610028A>G" "" "likely benign" "" "0000329893" "0" "30" "4" "6599928" "6599928" "subst" "0.00256832" "01804" "MAN2B2_000001" "g.6599928C>A" "" "" "" "MAN2B2(NM_015274.1):c.1252C>A (p.(Gln418Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6598201C>A" "" "likely benign" "" "0000817836" "3" "90" "4" "6619106" "6621772" "del" "0" "00006" "MAN2B2_000003" "g.(6616083_6619106)_(6621772_6622914)del" "" "{PMID:Hu 2019:29302074}" "" "g.6619107_6621771del" "novel candidate disease gene" "Germline" "" "" "0" "" "" "g.(6614356_6617379)_(6620045_6621187)del" "" "likely pathogenic (recessive)" "" "0000859565" "0" "50" "4" "6610916" "6610916" "subst" "1.21851E-5" "02325" "MAN2B2_000004" "g.6610916G>A" "" "" "" "MAN2B2(NM_015274.3):c.1897G>A (p.D633N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000859567" "0" "50" "4" "6621735" "6621735" "subst" "1.63904E-5" "02325" "MAN2B2_000005" "g.6621735C>T" "" "" "" "MAN2B2(NM_015274.3):c.2896C>T (p.R966C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000886363" "0" "50" "4" "6619139" "6619139" "subst" "0.000203077" "02325" "MAN2B2_000006" "g.6619139C>T" "" "" "" "MAN2B2(NM_015274.3):c.2734C>T (p.R912C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912133" "0" "30" "4" "6588837" "6588837" "subst" "5.69203E-5" "02326" "MAN2B2_000007" "g.6588837A>G" "" "" "" "MAN2B2(NM_015274.3):c.506A>G (p.N169S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912134" "0" "30" "4" "6600070" "6600070" "subst" "0.000106214" "02326" "MAN2B2_000008" "g.6600070C>T" "" "" "" "MAN2B2(NM_015274.3):c.1394C>T (p.A465V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912135" "0" "30" "4" "6612965" "6612965" "subst" "0.00066641" "02326" "MAN2B2_000009" "g.6612965G>A" "" "" "" "MAN2B2(NM_015274.3):c.2523G>A (p.A841=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924145" "0" "10" "4" "6580124" "6580124" "subst" "0.00228172" "02326" "MAN2B2_000010" "g.6580124G>A" "" "" "" "MAN2B2(NM_015274.3):c.290G>A (p.R97H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924146" "0" "30" "4" "6602396" "6602396" "subst" "5.68643E-5" "02326" "MAN2B2_000011" "g.6602396C>A" "" "" "" "MAN2B2(NM_015274.3):c.1452C>A (p.A484=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924147" "0" "30" "4" "6611037" "6611037" "subst" "0.00252486" "02326" "MAN2B2_000012" "g.6611037G>A" "" "" "" "MAN2B2(NM_015274.3):c.2006+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924148" "0" "50" "4" "6611720" "6611720" "subst" "4.87377E-5" "02325" "MAN2B2_000013" "g.6611720C>T" "" "" "" "MAN2B2(NM_015274.3):c.2202C>T (p.N734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924149" "0" "50" "4" "6612871" "6612871" "subst" "0.00204209" "02325" "MAN2B2_000014" "g.6612871C>T" "" "" "" "MAN2B2(NM_015274.3):c.2429C>T (p.T810M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924150" "0" "30" "4" "6615954" "6615954" "subst" "0.00127268" "02326" "MAN2B2_000015" "g.6615954C>A" "" "" "" "MAN2B2(NM_015274.3):c.2573C>A (p.P858Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924151" "0" "10" "4" "6621722" "6621722" "subst" "0.00318713" "02326" "MAN2B2_000016" "g.6621722G>T" "" "" "" "MAN2B2(NM_015274.3):c.2883G>T (p.L961F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924152" "0" "50" "4" "6621751" "6621751" "subst" "0.000421276" "02325" "MAN2B2_000017" "g.6621751C>T" "" "" "" "MAN2B2(NM_015274.3):c.2912C>T (p.T971M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928929" "0" "10" "4" "6611530" "6611530" "subst" "0.00349102" "02326" "MAN2B2_000018" "g.6611530T>C" "" "" "" "MAN2B2(NM_015274.3):c.2012T>C (p.M671T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928930" "0" "10" "4" "6611544" "6611544" "subst" "0.00356147" "02326" "MAN2B2_000019" "g.6611544T>C" "" "" "" "MAN2B2(NM_015274.3):c.2026T>C (p.Y676H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928931" "0" "30" "4" "6612947" "6612947" "subst" "8.95992E-5" "02326" "MAN2B2_000020" "g.6612947C>T" "" "" "" "MAN2B2(NM_015274.3):c.2505C>T (p.R835=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928932" "0" "30" "4" "6616038" "6616038" "subst" "0.00296596" "02326" "MAN2B2_000021" "g.6616038G>A" "" "" "" "MAN2B2(NM_015274.3):c.2657G>A (p.R886H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948358" "0" "50" "4" "6577074" "6577074" "subst" "0.000151185" "02325" "MAN2B2_000022" "g.6577074A>G" "" "" "" "MAN2B2(NM_015274.3):c.137A>G (p.Q46R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948359" "0" "30" "4" "6590902" "6590902" "subst" "0.00201032" "02326" "MAN2B2_000023" "g.6590902G>T" "" "" "" "MAN2B2(NM_015274.3):c.680+15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948360" "0" "30" "4" "6602402" "6602402" "subst" "0.0023396" "02326" "MAN2B2_000024" "g.6602402G>A" "" "" "" "MAN2B2(NM_015274.3):c.1458G>A (p.T486=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948361" "0" "30" "4" "6611720" "6611720" "subst" "4.87377E-5" "02326" "MAN2B2_000013" "g.6611720C>T" "" "" "" "MAN2B2(NM_015274.3):c.2202C>T (p.N734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000948362" "0" "50" "4" "6611772" "6611772" "subst" "0.00010596" "02325" "MAN2B2_000025" "g.6611772G>C" "" "" "" "MAN2B2(NM_015274.3):c.2254G>C (p.A752P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000948363" "0" "30" "4" "6612956" "6612956" "subst" "2.856E-5" "02326" "MAN2B2_000026" "g.6612956C>T" "" "" "" "MAN2B2(NM_015274.3):c.2514C>T (p.S838=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963221" "0" "10" "4" "6590835" "6590835" "subst" "0.00214036" "02326" "MAN2B2_000027" "g.6590835A>T" "" "" "" "MAN2B2(NM_015274.3):c.628A>T (p.I210F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000976339" "0" "50" "4" "6577049" "6577049" "subst" "0.000307522" "02325" "MAN2B2_000028" "g.6577049G>A" "" "" "" "MAN2B2(NM_015274.3):c.112G>A (p.D38N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976340" "0" "50" "4" "6578326" "6578326" "subst" "0.000235757" "02325" "MAN2B2_000029" "g.6578326G>A" "" "" "" "MAN2B2(NM_015274.3):c.160G>A (p.A54T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976341" "0" "50" "4" "6580193" "6580193" "subst" "2.85325E-5" "02325" "MAN2B2_000030" "g.6580193C>T" "" "" "" "MAN2B2(NM_015274.3):c.359C>T (p.T120M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976342" "0" "50" "4" "6610918" "6610918" "subst" "0.000227452" "02325" "MAN2B2_000031" "g.6610918T>A" "" "" "" "MAN2B2(NM_015274.3):c.1899T>A (p.D633E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976343" "0" "50" "4" "6611721" "6611721" "subst" "2.03074E-5" "01804" "MAN2B2_000032" "g.6611721G>A" "" "" "" "MAN2B2(NM_015274.3):c.2203G>A (p.(Gly735Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000976344" "0" "50" "4" "6612945" "6612945" "subst" "1.22164E-5" "02325" "MAN2B2_000033" "g.6612945C>T" "" "" "" "MAN2B2(NM_015274.3):c.2503C>T (p.R835C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994403" "0" "50" "4" "6590884" "6590884" "subst" "5.69198E-5" "01804" "MAN2B2_000034" "g.6590884A>G" "" "" "" "MAN2B2(NM_015274.1):c.677A>G (p.(Asn226Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994404" "0" "50" "4" "6595004" "6595004" "subst" "4.89081E-5" "01804" "MAN2B2_000035" "g.6595004A>G" "" "" "" "MAN2B2(NM_015274.1):c.785A>G (p.(Tyr262Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994405" "0" "50" "4" "6598944" "6598944" "subst" "0.000958658" "01804" "MAN2B2_000036" "g.6598944C>T" "" "" "" "MAN2B2(NM_015274.1):c.1162C>T (p.(Arg388Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994406" "0" "50" "4" "6599028" "6599028" "subst" "5.38648E-5" "01804" "MAN2B2_000037" "g.6599028G>A" "" "" "" "MAN2B2(NM_015274.1):c.1246G>A (p.(Glu416Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994407" "0" "50" "4" "6600016" "6600016" "subst" "1.62627E-5" "01804" "MAN2B2_000038" "g.6600016G>T" "" "" "" "MAN2B2(NM_015274.1):c.1340G>T (p.(Arg447Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994409" "0" "50" "4" "6622975" "6622975" "subst" "6.90445E-5" "01804" "MAN2B2_000039" "g.6622975A>G" "" "" "" "MAN2B2(NM_015274.1):c.2993A>G (p.(Glu998Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994410" "0" "10" "4" "6623011" "6623011" "subst" "0.00889916" "02327" "MAN2B2_000040" "g.6623011G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001013984" "0" "50" "4" "6578345" "6578345" "subst" "1.21895E-5" "02325" "MAN2B2_000041" "g.6578345T>G" "" "" "" "MAN2B2(NM_015274.3):c.179T>G (p.V60G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013985" "0" "50" "4" "6580142" "6580142" "subst" "4.07362E-6" "02325" "MAN2B2_000042" "g.6580142G>A" "" "" "" "MAN2B2(NM_015274.3):c.308G>A (p.G103E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024940" "0" "50" "4" "6606997" "6606997" "subst" "1.22414E-5" "02325" "MAN2B2_000043" "g.6606997C>G" "" "" "" "MAN2B2(NM_015274.3):c.1755C>G (p.N585K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045970" "0" "50" "4" "6594939" "6594939" "del" "0" "02325" "MAN2B2_000044" "g.6594939del" "" "" "" "MAN2B2(NM_015274.3):c.720delG (p.K240Nfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045971" "0" "50" "4" "6594941" "6594949" "del" "0" "02325" "MAN2B2_000045" "g.6594941_6594949del" "" "" "" "MAN2B2(NM_015274.3):c.722_730delCTCCCCAAG (p.P241_D244delinsH)" "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 MAN2B2 ## Count = 46 "{{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}}" "0000255179" "00011721" "30" "2237" "0" "2237" "0" "c.2237A>G" "r.(?)" "p.(Tyr746Cys)" "" "0000329893" "00011721" "30" "1252" "0" "1252" "0" "c.1252C>A" "r.(?)" "p.(Gln418Lys)" "" "0000817836" "00011721" "90" "2702" "-1" "2932" "1" "c.(2701+1_2702-1)_(2932+1_2933-1)del" "r.?" "p.?" "2702_del" "0000859565" "00011721" "50" "1897" "0" "1897" "0" "c.1897G>A" "r.(?)" "p.(Asp633Asn)" "" "0000859567" "00011721" "50" "2896" "0" "2896" "0" "c.2896C>T" "r.(?)" "p.(Arg966Cys)" "" "0000886363" "00011721" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Cys)" "" "0000912133" "00011721" "30" "506" "0" "506" "0" "c.506A>G" "r.(?)" "p.(Asn169Ser)" "" "0000912134" "00011721" "30" "1394" "0" "1394" "0" "c.1394C>T" "r.(?)" "p.(Ala465Val)" "" "0000912135" "00011721" "30" "2523" "0" "2523" "0" "c.2523G>A" "r.(?)" "p.(Ala841=)" "" "0000924145" "00011721" "10" "290" "0" "290" "0" "c.290G>A" "r.(?)" "p.(Arg97His)" "" "0000924146" "00011721" "30" "1452" "0" "1452" "0" "c.1452C>A" "r.(?)" "p.(Ala484=)" "" "0000924147" "00011721" "30" "2006" "12" "2006" "12" "c.2006+12G>A" "r.(=)" "p.(=)" "" "0000924148" "00011721" "50" "2202" "0" "2202" "0" "c.2202C>T" "r.(?)" "p.(Asn734=)" "" "0000924149" "00011721" "50" "2429" "0" "2429" "0" "c.2429C>T" "r.(?)" "p.(Thr810Met)" "" "0000924150" "00011721" "30" "2573" "0" "2573" "0" "c.2573C>A" "r.(?)" "p.(Pro858Gln)" "" "0000924151" "00011721" "10" "2883" "0" "2883" "0" "c.2883G>T" "r.(?)" "p.(Leu961Phe)" "" "0000924152" "00011721" "50" "2912" "0" "2912" "0" "c.2912C>T" "r.(?)" "p.(Thr971Met)" "" "0000928929" "00011721" "10" "2012" "0" "2012" "0" "c.2012T>C" "r.(?)" "p.(Met671Thr)" "" "0000928930" "00011721" "10" "2026" "0" "2026" "0" "c.2026T>C" "r.(?)" "p.(Tyr676His)" "" "0000928931" "00011721" "30" "2505" "0" "2505" "0" "c.2505C>T" "r.(?)" "p.(=)" "" "0000928932" "00011721" "30" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886His)" "" "0000948358" "00011721" "50" "137" "0" "137" "0" "c.137A>G" "r.(?)" "p.(Gln46Arg)" "" "0000948359" "00011721" "30" "680" "15" "680" "15" "c.680+15G>T" "r.(=)" "p.(=)" "" "0000948360" "00011721" "30" "1458" "0" "1458" "0" "c.1458G>A" "r.(?)" "p.(=)" "" "0000948361" "00011721" "30" "2202" "0" "2202" "0" "c.2202C>T" "r.(?)" "p.(Asn734=)" "" "0000948362" "00011721" "50" "2254" "0" "2254" "0" "c.2254G>C" "r.(?)" "p.(Ala752Pro)" "" "0000948363" "00011721" "30" "2514" "0" "2514" "0" "c.2514C>T" "r.(?)" "p.(=)" "" "0000963221" "00011721" "10" "628" "0" "628" "0" "c.628A>T" "r.(?)" "p.(Ile210Phe)" "" "0000976339" "00011721" "50" "112" "0" "112" "0" "c.112G>A" "r.(?)" "p.(Asp38Asn)" "" "0000976340" "00011721" "50" "160" "0" "160" "0" "c.160G>A" "r.(?)" "p.(Ala54Thr)" "" "0000976341" "00011721" "50" "359" "0" "359" "0" "c.359C>T" "r.(?)" "p.(Thr120Met)" "" "0000976342" "00011721" "50" "1899" "0" "1899" "0" "c.1899T>A" "r.(?)" "p.(Asp633Glu)" "" "0000976343" "00011721" "50" "2203" "0" "2203" "0" "c.2203G>A" "r.(?)" "p.(Gly735Ser)" "" "0000976344" "00011721" "50" "2503" "0" "2503" "0" "c.2503C>T" "r.(?)" "p.(Arg835Cys)" "" "0000994403" "00011721" "50" "677" "0" "677" "0" "c.677A>G" "r.(?)" "p.(Asn226Ser)" "" "0000994404" "00011721" "50" "785" "0" "785" "0" "c.785A>G" "r.(?)" "p.(Tyr262Cys)" "" "0000994405" "00011721" "50" "1162" "0" "1162" "0" "c.1162C>T" "r.(?)" "p.(Arg388Cys)" "" "0000994406" "00011721" "50" "1246" "0" "1246" "0" "c.1246G>A" "r.(?)" "p.(Glu416Lys)" "" "0000994407" "00011721" "50" "1340" "0" "1340" "0" "c.1340G>T" "r.(?)" "p.(Arg447Leu)" "" "0000994409" "00011721" "50" "2993" "0" "2993" "0" "c.2993A>G" "r.(?)" "p.(Glu998Gly)" "" "0000994410" "00011721" "10" "3029" "0" "3029" "0" "c.3029G>A" "r.(?)" "p.(=)" "" "0001013984" "00011721" "50" "179" "0" "179" "0" "c.179T>G" "r.(?)" "p.(Val60Gly)" "" "0001013985" "00011721" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Gly103Glu)" "" "0001024940" "00011721" "50" "1755" "0" "1755" "0" "c.1755C>G" "r.(?)" "p.(Asn585Lys)" "" "0001045970" "00011721" "50" "720" "0" "720" "0" "c.720del" "r.(?)" "p.(Lys240Asnfs*11)" "" "0001045971" "00011721" "50" "722" "0" "730" "0" "c.722_730del" "r.(?)" "p.(Pro241_Asp244delinsHis)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000389043" "0000817836"