### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHD5) # 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}}" "CHD5" "chromodomain helicase DNA binding protein 5" "1" "p36.3" "unknown" "NC_000001.10" "UD_132319013289" "" "https://www.LOVD.nl/CHD5" "" "1" "16816" "26038" "610771" "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/CHD5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-10-01 12:18:32" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00005082" "CHD5" "chromodomain helicase DNA binding protein 5" "001" "NM_015557.2" "" "NP_056372.1" "" "" "" "-111" "9552" "5865" "6240194" "6161847" "" "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}}" "07191" "PMNDS" "Parenti-Mignot neurodevelopmental syndrome" "AD" "619873" "" "" "" "00006" "2025-10-01 12:17:43" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CHD5" "07191" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 07191 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 43 "{{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}}" "0000508088" "0" "50" "1" "6171889" "6171889" "subst" "4.06312E-6" "01943" "CHD5_000002" "g.6171889A>G" "" "" "" "CHD5(NM_015557.3):c.5195T>C (p.I1732T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6111829A>G" "" "VUS" "" "0000508103" "0" "30" "1" "6202618" "6202618" "subst" "4.06762E-5" "01943" "CHD5_000003" "g.6202618G>A" "" "" "" "CHD5(NM_015557.3):c.2091C>T (p.G697=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6142558G>A" "" "likely benign" "" "0000508104" "0" "50" "1" "6209018" "6209018" "subst" "0" "01943" "CHD5_000004" "g.6209018C>T" "" "" "" "CHD5(NM_015557.3):c.1279G>A (p.E427K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6148958C>T" "" "VUS" "" "0000717580" "0" "50" "1" "6195425" "6195425" "subst" "0" "02329" "CHD5_000001" "g.6195425G>A" "" "" "" "CHD5(NM_015557.3):c.2735C>T (p.S912F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883536" "0" "50" "1" "6209057" "6209057" "subst" "4.15659E-6" "02327" "CHD5_000005" "g.6209057C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000883537" "0" "30" "1" "6212566" "6212566" "subst" "0.00107614" "02325" "CHD5_000006" "g.6212566G>C" "" "" "" "CHD5(NM_015557.3):c.776C>G (p.(Ser259Cys), p.S259C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911109" "0" "50" "1" "6171847" "6171847" "subst" "8.14963E-6" "02327" "CHD5_000007" "g.6171847G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911110" "0" "30" "1" "6171914" "6171914" "subst" "7.32541E-5" "02325" "CHD5_000008" "g.6171914G>A" "" "" "" "CHD5(NM_015557.3):c.5170C>T (p.R1724W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923218" "0" "50" "1" "6184073" "6184073" "subst" "0" "02325" "CHD5_000009" "g.6184073G>A" "" "" "" "CHD5(NM_015557.3):c.4634C>T (p.(Ser1545Leu), p.S1545L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923219" "0" "70" "1" "6185888" "6185888" "subst" "0" "02327" "CHD5_000010" "g.6185888G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000927613" "0" "50" "1" "6166560" "6166560" "subst" "0" "03779" "CHD5_000012" "g.6166560C>T" "" "" "" "" "" "Unknown" "" "rs145030669" "0" "" "" "" "" "VUS" "" "0000928202" "0" "70" "1" "6195338" "6195338" "subst" "0" "02325" "CHD5_000013" "g.6195338G>A" "" "" "" "CHD5(NM_015557.3):c.2822C>T (p.P941L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000945247" "0" "50" "1" "6203905" "6203905" "subst" "4.06488E-6" "03779" "CHD5_000014" "g.6203905G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1399914278" "0" "" "" "" "" "VUS" "" "0000961115" "0" "50" "1" "6206307" "6206307" "del" "0" "02329" "CHD5_000015" "g.6206307del" "" "" "" "CHD5(NM_015557.3):c.1767delA (p.E590Sfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974053" "0" "30" "1" "6158547" "6158547" "subst" "4.08797E-6" "01804" "CHD5_000016" "g.6158547C>T" "" "" "" "KCNAB2(NM_001199862.2):c.1161C>T (p.(Val387=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974054" "0" "50" "1" "6166347" "6166347" "subst" "0" "01804" "CHD5_000017" "g.6166347T>C" "" "" "" "CHD5(NM_015557.3):c.5858A>G (p.(Asp1953Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974055" "0" "30" "1" "6184073" "6184073" "subst" "0" "01804" "CHD5_000009" "g.6184073G>A" "" "" "" "CHD5(NM_015557.3):c.4634C>T (p.(Ser1545Leu), p.S1545L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974056" "0" "30" "1" "6184729" "6184729" "subst" "0" "01804" "CHD5_000018" "g.6184729G>T" "" "" "" "CHD5(NM_015557.3):c.4395-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974057" "0" "30" "1" "6185175" "6185175" "subst" "0" "01804" "CHD5_000019" "g.6185175C>A" "" "" "" "CHD5(NM_015557.2):c.4379G>T (p.(Ser1460Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974060" "0" "30" "1" "6202464" "6202464" "subst" "0.000364178" "01804" "CHD5_000020" "g.6202464G>A" "" "" "" "CHD5(NM_015557.3):c.2235+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974061" "0" "50" "1" "6202575" "6202575" "subst" "1.62525E-5" "01804" "CHD5_000021" "g.6202575G>A" "" "" "" "CHD5(NM_015557.3):c.2134C>T (p.(Arg712Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974062" "0" "30" "1" "6206768" "6206768" "subst" "2.03882E-5" "01804" "CHD5_000022" "g.6206768G>A" "" "" "" "CHD5(NM_015557.2):c.1547C>T (p.(Ala516Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000974063" "0" "50" "1" "6206903" "6206903" "subst" "0" "02325" "CHD5_000023" "g.6206903C>T" "" "" "" "CHD5(NM_015557.3):c.1412G>A (p.R471Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000974064" "0" "30" "1" "6214966" "6214966" "subst" "0" "01804" "CHD5_000024" "g.6214966G>A" "" "" "" "CHD5(NM_015557.3):c.507-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991370" "0" "10" "1" "6157434" "6157434" "subst" "0.467844" "02330" "CHD5_000025" "g.6157434C>T" "" "" "" "KCNAB2(NM_001199862.2):c.1158+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991371" "0" "10" "1" "6158562" "6158562" "subst" "0.574499" "02330" "CHD5_000026" "g.6158562A>G" "" "" "" "KCNAB2(NM_001199862.2):c.1176A>G (p.S392=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000991374" "0" "30" "1" "6184677" "6184677" "subst" "0" "01804" "CHD5_000027" "g.6184677G>A" "" "" "" "CHD5(NM_015557.2):c.4439C>T (p.(Ala1480Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991375" "0" "70" "1" "6185604" "6185604" "subst" "0" "01804" "CHD5_000028" "g.6185604G>A" "" "" "" "CHD5(NM_015557.2):c.4240C>T (p.(Arg1414*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000991379" "0" "30" "1" "6203924" "6203924" "subst" "2.43728E-5" "01804" "CHD5_000029" "g.6203924C>G" "" "" "" "CHD5(NM_015557.2):c.2002G>C (p.(Asp668His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991380" "0" "30" "1" "6206811" "6206811" "subst" "0" "01804" "CHD5_000030" "g.6206811G>T" "" "" "" "CHD5(NM_015557.2):c.1504C>A (p.(Pro502Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000991381" "0" "50" "1" "6214924" "6214924" "subst" "0" "01804" "CHD5_000031" "g.6214924T>C" "" "" "" "CHD5(NM_015557.2):c.541A>G (p.(Met181Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001007083" "0" "50" "1" "6206382" "6206382" "subst" "0" "03779" "CHD5_000033" "g.6206382C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001007084" "0" "50" "1" "6166800" "6166800" "subst" "0" "03779" "CHD5_000032" "g.6166800G>C" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "VUS" "" "0001024196" "0" "50" "1" "6158643" "6158643" "subst" "3.69452E-5" "02330" "CHD5_000034" "g.6158643C>T" "" "" "" "KCNAB2(NM_001199862.2):c.*9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032140" "0" "50" "1" "6202630" "6202630" "subst" "0" "01804" "CHD5_000035" "g.6202630G>A" "" "" "" "CHD5(NM_015557.3):c.2079C>T (p.(Ile693=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032141" "0" "50" "1" "6203896" "6203896" "subst" "8.13723E-6" "01804" "CHD5_000036" "g.6203896G>A" "" "" "" "CHD5(NM_015557.3):c.2030C>T (p.(Thr677Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032142" "0" "30" "1" "6206416" "6206416" "subst" "6.90344E-5" "02325" "CHD5_000037" "g.6206416G>A" "" "" "" "CHD5(NM_015557.3):c.1658C>T (p.P553L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032143" "0" "30" "1" "6211172" "6211172" "subst" "3.69558E-5" "01804" "CHD5_000038" "g.6211172C>T" "" "" "" "CHD5(NM_015557.3):c.914G>A (p.(Ser305Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032144" "0" "30" "1" "6212566" "6212566" "subst" "0.00107614" "01804" "CHD5_000006" "g.6212566G>C" "" "" "" "CHD5(NM_015557.3):c.776C>G (p.(Ser259Cys), p.S259C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032145" "0" "30" "1" "6212569" "6212569" "subst" "8.93387E-5" "01804" "CHD5_000039" "g.6212569C>G" "" "" "" "CHD5(NM_015557.3):c.773G>C (p.(Gly258Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032146" "0" "30" "1" "6228261" "6228261" "subst" "8.5327E-5" "01804" "CHD5_000040" "g.6228261T>A" "" "" "" "CHD5(NM_015557.3):c.156A>T (p.(Lys52Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001032147" "0" "50" "1" "6228301" "6228301" "subst" "0" "01804" "CHD5_000041" "g.6228301A>T" "" "" "" "CHD5(NM_015557.3):c.116T>A (p.(Phe39Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001032148" "0" "50" "1" "6240053" "6240053" "subst" "0" "01804" "CHD5_000042" "g.6240053G>T" "" "" "" "CHD5(NM_015557.3):c.31C>A (p.(Leu11Met))" "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 CHD5 ## Count = 43 "{{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}}" "0000508088" "00005082" "50" "5195" "0" "5195" "0" "c.5195T>C" "r.(?)" "p.(Ile1732Thr)" "" "0000508103" "00005082" "30" "2091" "0" "2091" "0" "c.2091C>T" "r.(?)" "p.(Gly697=)" "" "0000508104" "00005082" "50" "1279" "0" "1279" "0" "c.1279G>A" "r.(?)" "p.(Glu427Lys)" "" "0000717580" "00005082" "50" "2735" "0" "2735" "0" "c.2735C>T" "r.(?)" "p.(Ser912Phe)" "" "0000883536" "00005082" "50" "1240" "0" "1240" "0" "c.1240G>A" "r.(?)" "p.(Asp414Asn)" "" "0000883537" "00005082" "30" "776" "0" "776" "0" "c.776C>G" "r.(?)" "p.(Ser259Cys)" "" "0000911109" "00005082" "50" "5237" "0" "5237" "0" "c.5237C>T" "r.(?)" "p.(Ala1746Val)" "" "0000911110" "00005082" "30" "5170" "0" "5170" "0" "c.5170C>T" "r.(?)" "p.(Arg1724Trp)" "" "0000923218" "00005082" "50" "4634" "0" "4634" "0" "c.4634C>T" "r.(?)" "p.(Ser1545Leu)" "" "0000923219" "00005082" "70" "4109" "0" "4109" "0" "c.4109C>G" "r.(?)" "p.(Ser1370*)" "" "0000927613" "00005082" "50" "5752" "0" "5752" "0" "c.5752G>A" "r.(?)" "p.(Gly1918Ser)" "" "0000928202" "00005082" "70" "2822" "0" "2822" "0" "c.2822C>T" "r.(?)" "p.(Pro941Leu)" "" "0000945247" "00005082" "50" "2021" "0" "2021" "0" "c.2021C>T" "r.(?)" "p.(Pro674Leu)" "" "0000961115" "00005082" "50" "1767" "0" "1767" "0" "c.1767del" "r.(?)" "p.(Glu590Serfs*3)" "" "0000974053" "00005082" "30" "12852" "0" "12852" "0" "c.*6987G>A" "r.(=)" "p.(=)" "" "0000974054" "00005082" "50" "5858" "0" "5858" "0" "c.5858A>G" "r.(?)" "p.(Asp1953Gly)" "" "0000974055" "00005082" "30" "4634" "0" "4634" "0" "c.4634C>T" "r.(?)" "p.(Ser1545Leu)" "" "0000974056" "00005082" "30" "4395" "-8" "4395" "-8" "c.4395-8C>A" "r.(=)" "p.(=)" "" "0000974057" "00005082" "30" "4379" "0" "4379" "0" "c.4379G>T" "r.(?)" "p.(Ser1460Ile)" "" "0000974060" "00005082" "30" "2235" "10" "2235" "10" "c.2235+10C>T" "r.(=)" "p.(=)" "" "0000974061" "00005082" "50" "2134" "0" "2134" "0" "c.2134C>T" "r.(?)" "p.(Arg712Cys)" "" "0000974062" "00005082" "30" "1547" "0" "1547" "0" "c.1547C>T" "r.(?)" "p.(Ala516Val)" "" "0000974063" "00005082" "50" "1412" "0" "1412" "0" "c.1412G>A" "r.(?)" "p.(Arg471Gln)" "" "0000974064" "00005082" "30" "507" "-8" "507" "-8" "c.507-8C>T" "r.(=)" "p.(=)" "" "0000991370" "00005082" "10" "13965" "0" "13965" "0" "c.*8100G>A" "r.(=)" "p.(=)" "" "0000991371" "00005082" "10" "12837" "0" "12837" "0" "c.*6972T>C" "r.(=)" "p.(=)" "" "0000991374" "00005082" "30" "4439" "0" "4439" "0" "c.4439C>T" "r.(?)" "p.(Ala1480Val)" "" "0000991375" "00005082" "70" "4240" "0" "4240" "0" "c.4240C>T" "r.(?)" "p.(Arg1414*)" "" "0000991379" "00005082" "30" "2002" "0" "2002" "0" "c.2002G>C" "r.(?)" "p.(Asp668His)" "" "0000991380" "00005082" "30" "1504" "0" "1504" "0" "c.1504C>A" "r.(?)" "p.(Pro502Thr)" "" "0000991381" "00005082" "50" "541" "0" "541" "0" "c.541A>G" "r.(?)" "p.(Met181Val)" "" "0001007083" "00005082" "50" "1692" "0" "1692" "0" "c.1692G>C" "r.(?)" "p.(Lys564Asn)" "" "0001007084" "00005082" "50" "5618" "0" "5618" "0" "c.5618C>G" "r.(?)" "p.(Ala1873Gly)" "" "0001024196" "00005082" "50" "12756" "0" "12756" "0" "c.*6891G>A" "r.(=)" "p.(=)" "" "0001032140" "00005082" "50" "2079" "0" "2079" "0" "c.2079C>T" "r.(?)" "p.(=)" "" "0001032141" "00005082" "50" "2030" "0" "2030" "0" "c.2030C>T" "r.(?)" "p.(Thr677Met)" "" "0001032142" "00005082" "30" "1658" "0" "1658" "0" "c.1658C>T" "r.(?)" "p.(Pro553Leu)" "" "0001032143" "00005082" "30" "914" "0" "914" "0" "c.914G>A" "r.(?)" "p.(Ser305Asn)" "" "0001032144" "00005082" "30" "776" "0" "776" "0" "c.776C>G" "r.(?)" "p.(Ser259Cys)" "" "0001032145" "00005082" "30" "773" "0" "773" "0" "c.773G>C" "r.(?)" "p.(Gly258Ala)" "" "0001032146" "00005082" "30" "156" "0" "156" "0" "c.156A>T" "r.(?)" "p.(Lys52Asn)" "" "0001032147" "00005082" "50" "116" "0" "116" "0" "c.116T>A" "r.(?)" "p.(Phe39Tyr)" "" "0001032148" "00005082" "50" "31" "0" "31" "0" "c.31C>A" "r.(?)" "p.(Leu11Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0