### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PRAF2) # 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}}" "PRAF2" "PRA1 domain family, member 2" "X" "p11.23" "unknown" "NC_000023.10" "UD_132438288925" "" "https://www.LOVD.nl/PRAF2" "" "1" "28911" "11230" "300840" "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/PRAF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-06-01 13:33:56" "00000" "2026-01-20 18:57:21" ## 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}}" "00016738" "PRAF2" "PRA1 domain family, member 2" "001" "NM_007213.1" "" "NP_009144.1" "" "" "" "-16" "1247" "537" "48931662" "48928818" "" "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}}" "05229" "NBIA" "neurodegeneration, with brain iron accumulation (NBIA)" "" "" "" "" "" "00006" "2017-03-02 13:09:37" "" "" ## 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}}" "00302812" "" "" "" "1" "" "00006" "{PMID:Abidi 2016:26173968}" "" "M" "" "France" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00302812" "05229" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 05229 ## Count = 1 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000229894" "05229" "00302812" "00006" "Isolated (sporadic)" "00y19m" "see paper; ..." "" "epileptic spasms associated with focal seizures" "" "" "" "" "NBIA5" "early-onset epileptic encephalopathy" ## 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}}" "0000303938" "00302812" "1" "00006" "00006" "2020-06-01 13:28:54" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000303938" "WDR45" ## 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 = 89 "{{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}}" "0000254448" "0" "30" "X" "48934309" "48934309" "subst" "0" "01943" "WDR45_000018" "g.48934309A>T" "" "" "" "WDR45(NM_007075.3):c.339T>A (p.H113Q), WDR45(NM_007075.4):c.339T>A (p.H113Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076650A>T" "" "likely benign" "" "0000272740" "0" "50" "X" "48925026" "48925026" "subst" "0.000230699" "01943" "CCDC120_000007" "g.48925026G>T" "" "" "" "CCDC120(NM_001271836.1):c.1271G>T (p.S424I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067490G>T" "" "VUS" "" "0000272741" "0" "50" "X" "48925106" "48925106" "subst" "1.38264E-5" "01943" "CCDC120_000008" "g.48925106C>G" "" "" "" "CCDC120(NM_001271836.1):c.1351C>G (p.R451G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067570C>G" "" "VUS" "" "0000272742" "0" "50" "X" "48925232" "48925232" "subst" "9.97189E-5" "01943" "CCDC120_000010" "g.48925232G>A" "" "" "" "CCDC120(NM_001271836.1):c.1477G>A (p.A493T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067696G>A" "" "VUS" "" "0000313062" "0" "30" "X" "48934434" "48934434" "subst" "0" "02325" "WDR45_000019" "g.48934434C>T" "" "" "" "WDR45(NM_007075.4):c.236-22G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076775C>T" "" "likely benign" "" "0000313063" "0" "30" "X" "48934174" "48934174" "subst" "0.00086789" "02325" "WDR45_000017" "g.48934174G>A" "" "" "" "WDR45(NM_007075.3):c.354C>T (p.I118=), WDR45(NM_007075.4):c.354C>T (p.I118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076515G>A" "" "likely benign" "" "0000313064" "0" "30" "X" "48932581" "48932581" "subst" "1.69349E-5" "02325" "WDR45_000007" "g.48932581G>T" "" "" "" "WDR45(NM_007075.4):c.977-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49074922G>T" "" "likely benign" "" "0000313708" "0" "90" "X" "48934147" "48934147" "subst" "0" "02329" "WDR45_000015" "g.48934147G>C" "" "" "" "WDR45(NM_007075.4):c.381C>G (p.Y127*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076488G>C" "" "pathogenic" "" "0000315396" "0" "90" "X" "48933578" "48933578" "subst" "0" "02326" "WDR45_000014" "g.48933578C>A" "" "" "" "WDR45(NM_007075.3):c.466G>T (p.E156*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075919C>A" "" "pathogenic" "" "0000315397" "0" "90" "X" "48933232" "48933232" "subst" "0" "02326" "WDR45_000011" "g.48933232G>A" "" "" "" "WDR45(NM_007075.3):c.700C>T (p.R234*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075573G>A" "" "pathogenic" "" "0000319850" "0" "50" "X" "48935526" "48935526" "subst" "0.00015741" "01943" "WDR45_000021" "g.48935526C>T" "" "" "" "WDR45(NM_001029896.1):c.100G>A (p.(Val34Met)), WDR45(NM_007075.3):c.100G>A (p.V34M), WDR45(NM_007075.4):c.100G>A (p.V34M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49077867C>T" "" "VUS" "" "0000319851" "0" "10" "X" "48935284" "48935284" "subst" "0.0445502" "01943" "WDR45_000020" "g.48935284C>A" "" "" "" "WDR45(NM_007075.3):c.235+18G>T, WDR45(NM_007075.4):c.235+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49077625C>A" "" "benign" "" "0000319852" "0" "30" "X" "48934174" "48934174" "subst" "0.00086789" "01943" "WDR45_000017" "g.48934174G>A" "" "" "" "WDR45(NM_007075.3):c.354C>T (p.I118=), WDR45(NM_007075.4):c.354C>T (p.I118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076515G>A" "" "likely benign" "" "0000319853" "0" "30" "X" "48934147" "48934147" "subst" "0" "01943" "WDR45_000016" "g.48934147G>A" "" "" "" "WDR45(NM_007075.3):c.381C>T (p.Y127=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076488G>A" "" "likely benign" "" "0000319854" "0" "90" "X" "48933270" "48933271" "del" "0" "01943" "WDR45_000013" "g.48933270_48933271del" "" "" "" "WDR45(NM_007075.3):c.662_663delTT (p.F221*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075611_49075612del" "" "pathogenic" "" "0000319855" "0" "30" "X" "48933266" "48933266" "subst" "0" "01943" "WDR45_000012" "g.48933266G>A" "" "" "" "WDR45(NM_007075.3):c.666C>T (p.D222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075607G>A" "" "likely benign" "" "0000319856" "0" "30" "X" "48932930" "48932930" "subst" "0.00668116" "01943" "WDR45_000010" "g.48932930C>T" "" "" "" "WDR45(NM_001029896.1):c.838G>A (p.(Val280Met)), WDR45(NM_007075.3):c.841G>A (p.V281M), WDR45(NM_007075.4):c.841G>A (p.V281M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075271C>T" "" "likely benign" "" "0000319857" "0" "50" "X" "48932824" "48932824" "subst" "0.000179247" "01943" "WDR45_000008" "g.48932824T>G" "" "" "" "WDR45(NM_001029896.1):c.944A>C (p.(Asn315Thr)), WDR45(NM_007075.3):c.947A>C (p.N316T), WDR45(NM_007075.4):c.947A>C (p.N316T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075165T>G" "" "VUS" "" "0000319858" "0" "30" "X" "48935527" "48935527" "subst" "7.30727E-5" "01943" "WDR45_000022" "g.48935527G>A" "" "" "" "WDR45(NM_007075.3):c.99C>T (p.N33=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49077868G>A" "" "likely benign" "" "0000334044" "0" "30" "X" "48925199" "48925199" "subst" "0.000849065" "01804" "CCDC120_000009" "g.48925199C>A" "" "" "" "CCDC120(NM_001163321.4):c.1549C>A (p.(Leu517Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067663C>A" "" "likely benign" "" "0000334046" "0" "50" "X" "48925388" "48925388" "subst" "0.00136534" "01804" "CCDC120_000012" "g.48925388G>A" "" "" "" "CCDC120(NM_001163321.2):c.1738G>A (p.(Ala580Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067852G>A" "" "VUS" "" "0000334047" "0" "50" "X" "48925512" "48925512" "subst" "0" "01804" "CCDC120_000013" "g.48925512A>C" "" "" "" "CCDC120(NM_001163321.2):c.1862A>C (p.(His621Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067976A>C" "" "VUS" "" "0000334048" "0" "30" "X" "48925533" "48925533" "subst" "0.00191792" "01804" "CCDC120_000002" "g.48925533G>A" "" "" "" "CCDC120(NM_001163321.2):c.1883G>A (p.(Arg628His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49067997G>A" "" "likely benign" "" "0000334049" "0" "50" "X" "48925608" "48925608" "subst" "0" "01804" "CCDC120_000014" "g.48925608C>T" "" "" "" "CCDC120(NM_001163321.2):c.1853C>T (p.(Ala618Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49068072C>T" "" "VUS" "" "0000334051" "0" "50" "X" "48926274" "48926274" "del" "0" "01804" "CCDC120_000016" "g.48926274del" "" "" "" "CCDC120(NM_001163321.2):c.*77del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49068738del" "" "VUS" "" "0000334052" "0" "30" "X" "48931481" "48931481" "subst" "0.00377764" "01804" "PRAF2_000001" "g.48931481G>A" "" "" "" "PRAF2(NM_007213.1):c.166C>T (p.(Leu56Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49073822G>A" "" "likely benign" "" "0000334053" "0" "50" "X" "48932876" "48932876" "subst" "0" "01804" "WDR45_000009" "g.48932876C>T" "" "" "" "WDR45(NM_001029896.1):c.892G>A (p.(Ala298Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075217C>T" "" "VUS" "" "0000334054" "0" "30" "X" "48932930" "48932930" "subst" "0.00668116" "01804" "WDR45_000010" "g.48932930C>T" "" "" "" "WDR45(NM_001029896.1):c.838G>A (p.(Val280Met)), WDR45(NM_007075.3):c.841G>A (p.V281M), WDR45(NM_007075.4):c.841G>A (p.V281M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075271C>T" "" "likely benign" "" "0000334055" "0" "50" "X" "48935526" "48935526" "subst" "0.00015741" "01804" "WDR45_000021" "g.48935526C>T" "" "" "" "WDR45(NM_001029896.1):c.100G>A (p.(Val34Met)), WDR45(NM_007075.3):c.100G>A (p.V34M), WDR45(NM_007075.4):c.100G>A (p.V34M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49077867C>T" "" "VUS" "" "0000338320" "0" "70" "X" "48930091" "48930091" "subst" "0" "02327" "PRAF2_000002" "g.48930091C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49072432C>T" "" "likely pathogenic" "" "0000338321" "0" "10" "X" "48935284" "48935284" "subst" "0.0445502" "02327" "WDR45_000020" "g.48935284C>A" "" "" "" "WDR45(NM_007075.3):c.235+18G>T, WDR45(NM_007075.4):c.235+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49077625C>A" "" "benign" "" "0000339148" "0" "90" "X" "48933107" "48933111" "dup" "0" "02327" "WDR45_000026" "g.48933107_48933111dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075448_49075452dup" "" "pathogenic" "" "0000349856" "0" "70" "X" "48934399" "48934399" "subst" "0" "02327" "WDR45_000029" "g.48934399C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49076740C>T" "" "likely pathogenic" "" "0000351243" "0" "70" "X" "48932941" "48932941" "subst" "0" "02327" "WDR45_000023" "g.48932941C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075282C>T" "" "likely pathogenic" "" "0000351244" "0" "90" "X" "48933021" "48933021" "subst" "0" "02327" "WDR45_000024" "g.48933021A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49075362A>T" "" "pathogenic" "" "0000576305" "0" "50" "X" "48924731" "48924731" "subst" "0.000121826" "01943" "PRAF2_000003" "g.48924731C>T" "" "" "" "CCDC120(NM_001271836.1):c.976C>T (p.R326C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49067195C>T" "" "VUS" "" "0000576306" "0" "30" "X" "48925037" "48925037" "subst" "0.000548204" "01943" "PRAF2_000004" "g.48925037C>A" "" "" "" "CCDC120(NM_001163321.2):c.1387C>A (p.(Pro463Thr)), CCDC120(NM_001271836.1):c.1282C>A (p.P428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49067501C>A" "" "likely benign" "" "0000576307" "0" "30" "X" "48925037" "48925037" "subst" "0.000548204" "01804" "PRAF2_000004" "g.48925037C>A" "" "" "" "CCDC120(NM_001163321.2):c.1387C>A (p.(Pro463Thr)), CCDC120(NM_001271836.1):c.1282C>A (p.P428T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49067501C>A" "" "likely benign" "" "0000576309" "0" "30" "X" "48932824" "48932824" "subst" "0.000179247" "01804" "WDR45_000008" "g.48932824T>G" "" "" "" "WDR45(NM_001029896.1):c.944A>C (p.(Asn315Thr)), WDR45(NM_007075.3):c.947A>C (p.N316T), WDR45(NM_007075.4):c.947A>C (p.N316T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075165T>G" "" "likely benign" "" "0000576310" "0" "90" "X" "48933104" "48933106" "del" "0" "01804" "WDR45_000025" "g.48933104_48933106del" "" "" "" "WDR45(NM_001029896.1):c.749_751delCCT (p.(Ser251del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075445_49075447del" "" "pathogenic" "" "0000576311" "0" "70" "X" "48933234" "48933234" "subst" "5.59785E-6" "02327" "WDR45_000033" "g.48933234C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075575C>T" "" "likely pathogenic" "" "0000576312" "0" "70" "X" "48933235" "48933235" "subst" "0" "02327" "WDR45_000034" "g.48933235G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075576G>A" "" "likely pathogenic" "" "0000576313" "0" "90" "X" "48933311" "48933312" "dup" "0" "01943" "WDR45_000035" "g.48933311_48933312dup" "" "" "" "WDR45(NM_007075.3):c.620_621dupTA (p.V208*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075652_49075653dup" "" "pathogenic" "" "0000576314" "0" "30" "X" "48933340" "48933340" "subst" "0" "02327" "WDR45_000036" "g.48933340A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075681A>G" "" "likely benign" "" "0000576315" "0" "50" "X" "48934079" "48934079" "subst" "5.61111E-5" "01943" "WDR45_000037" "g.48934079G>A" "" "" "" "WDR45(NM_007075.3):c.439+10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49076420G>A" "" "VUS" "" "0000576317" "0" "10" "X" "48934174" "48934174" "subst" "0.00086789" "02326" "WDR45_000017" "g.48934174G>A" "" "" "" "WDR45(NM_007075.3):c.354C>T (p.I118=), WDR45(NM_007075.4):c.354C>T (p.I118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49076515G>A" "" "benign" "" "0000576318" "0" "50" "X" "48934353" "48934353" "subst" "1.1458E-5" "02327" "WDR45_000038" "g.48934353C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49076694C>G" "" "VUS" "" "0000576319" "0" "50" "X" "48935390" "48935390" "subst" "0" "01943" "WDR45_000039" "g.48935390G>A" "" "" "" "WDR45(NM_007075.3):c.147C>T (p.G49=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49077731G>A" "" "VUS" "" "0000576320" "0" "50" "X" "48935544" "48935544" "subst" "0" "01943" "WDR45_000040" "g.48935544C>T" "" "" "" "WDR45(NM_007075.3):c.82G>A (p.G28S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49077885C>T" "" "VUS" "" "0000619646" "0" "30" "X" "48924777" "48924777" "subst" "4.64465E-5" "01943" "PRAF2_000005" "g.48924777C>T" "" "" "" "CCDC120(NM_001271836.1):c.1022C>T (p.A341V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49067241C>T" "" "likely benign" "" "0000619647" "0" "30" "X" "48934071" "48934071" "subst" "1.12425E-5" "02326" "WDR45_000041" "g.48934071G>A" "" "" "" "WDR45(NM_007075.3):c.439+18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49076412G>A" "" "likely benign" "" "0000619648" "0" "10" "X" "48935284" "48935284" "subst" "0.0445502" "02329" "WDR45_000020" "g.48935284C>A" "" "" "" "WDR45(NM_007075.3):c.235+18G>T, WDR45(NM_007075.4):c.235+18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49077625C>A" "" "benign" "" "0000659345" "0" "50" "X" "48925434" "48925434" "subst" "0" "01943" "PRAF2_000006" "g.48925434G>A" "" "" "" "CCDC120(NM_001271836.1):c.1679G>A (p.R560Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49067898G>A" "" "VUS" "" "0000659346" "0" "50" "X" "48933033" "48933033" "subst" "0" "01943" "WDR45_000042" "g.48933033G>A" "" "" "" "WDR45(NM_001029896.1):c.817C>T (p.(Arg273Cys)), WDR45(NM_007075.3):c.820C>T (p.R274C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49075374G>A" "" "VUS" "" "0000667327" "0" "90" "X" "48922335" "48942321" "del" "0" "00006" "WDR45_000075" "g.(48915437_48922335)_(48942321_48967391)del" "" "{PMID:Abidi 2016:26173968}" "" "hg18 g.(48802381_48809279)_(48829265_48854335)del" "19.9 Kb deletion involving WDR45, CCDC120 and PRAF2" "De novo" "" "" "0" "" "" "g.(49057906_49064804)_(49085409_49110453)del" "" "pathogenic (dominant)" "" "0000682481" "0" "30" "X" "48933363" "48933363" "subst" "0.000107981" "01943" "WDR45_000136" "g.48933363T>C" "" "" "" "WDR45(NM_001029896.2):c.566A>G (p.(Asn189Ser)), WDR45(NM_007075.3):c.569A>G (p.N190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000682482" "0" "90" "X" "48933525" "48933527" "del" "0" "01804" "WDR45_000050" "g.48933525_48933527del" "" "" "" "WDR45(NM_001029896.1):c.516+1_516+3delGTG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000693630" "0" "50" "X" "48924857" "48924857" "subst" "1.84505E-5" "01943" "CCDC120_000021" "g.48924857C>T" "" "" "" "CCDC120(NM_001271836.1):c.1102C>T (p.R368W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000693631" "0" "30" "X" "48930139" "48930139" "subst" "0" "01943" "WDR45_000137" "g.48930139G>A" "" "" "" "PRAF2(NM_007213.3):c.350C>T (p.A117V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728977" "0" "30" "X" "48925324" "48925324" "subst" "1.39418E-5" "01943" "CCDC120_000022" "g.48925324C>T" "" "" "" "CCDC120(NM_001271836.1):c.1569C>T (p.A523=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728978" "0" "30" "X" "48925331" "48925331" "subst" "0.000121128" "01943" "CCDC120_000023" "g.48925331C>T" "" "" "" "CCDC120(NM_001271836.1):c.1576C>T (p.P526S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728979" "0" "50" "X" "48925368" "48925368" "subst" "0" "01943" "CCDC120_000024" "g.48925368C>T" "" "" "" "CCDC120(NM_001271836.1):c.1613C>T (p.P538L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000728980" "0" "30" "X" "48932824" "48932824" "subst" "0.000179247" "02325" "WDR45_000008" "g.48932824T>G" "" "" "" "WDR45(NM_001029896.1):c.944A>C (p.(Asn315Thr)), WDR45(NM_007075.3):c.947A>C (p.N316T), WDR45(NM_007075.4):c.947A>C (p.N316T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000728981" "0" "90" "X" "48935407" "48935407" "subst" "0" "02327" "WDR45_000138" "g.48935407C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000810462" "0" "50" "X" "48925139" "48925139" "subst" "2.72307E-5" "01943" "CCDC120_000026" "g.48925139T>G" "" "" "" "CCDC120(NM_001163322.2):c.1348T>G (p.W450G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000810463" "0" "50" "X" "48935414" "48935414" "subst" "5.84689E-5" "01943" "WDR45_000140" "g.48935414G>T" "" "" "" "WDR45(NM_007075.3):c.131-8C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856659" "0" "30" "X" "48925015" "48925015" "subst" "0.000283126" "01943" "CCDC120_000028" "g.48925015C>T" "" "" "" "CCDC120(NM_001271836.1):c.1260C>T (p.A420=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000856660" "0" "50" "X" "48925259" "48925259" "subst" "3.83588E-5" "01943" "CCDC120_000029" "g.48925259C>T" "" "" "" "CCDC120(NM_001163321.4):c.1609C>T (p.(Arg537Cys)), CCDC120(NM_001163322.2):c.1468C>T (p.R490C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856661" "0" "50" "X" "48931605" "48931605" "subst" "2.95118E-5" "01943" "WDR45_000142" "g.48931605G>T" "" "" "" "PRAF2(NM_007213.3):c.42C>A (p.D14E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000856663" "0" "90" "X" "48935354" "48935354" "subst" "0" "02327" "WDR45_000065" "g.48935354G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000867419" "0" "30" "X" "48932500" "48932500" "subst" "5.5929E-6" "01943" "WDR45_000143" "g.48932500C>T" "" "" "" "WDR45(NM_007075.3):c.1048G>A (p.D350N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867420" "0" "30" "X" "48932832" "48932832" "subst" "0.00031919" "01943" "WDR45_000144" "g.48932832G>A" "" "" "" "WDR45(NM_007075.3):c.939C>T (p.F313=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984724" "0" "30" "X" "48933363" "48933363" "subst" "0.000107981" "01804" "WDR45_000136" "g.48933363T>C" "" "" "" "WDR45(NM_001029896.2):c.566A>G (p.(Asn189Ser)), WDR45(NM_007075.3):c.569A>G (p.N190S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000984725" "0" "30" "X" "48934417" "48934417" "subst" "0" "02325" "WDR45_000147" "g.48934417G>T" "" "" "" "WDR45(NM_007075.4):c.236-5C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006801" "0" "50" "X" "48930134" "48930134" "subst" "0" "01804" "WDR45_000148" "g.48930134C>G" "" "" "" "PRAF2(NM_007213.1):c.355G>C (p.(Gly119Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006802" "0" "30" "X" "48931576" "48931576" "subst" "0" "01804" "WDR45_000149" "g.48931576G>A" "" "" "" "PRAF2(NM_007213.1):c.71C>T (p.(Ala24Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006803" "0" "50" "X" "48932526" "48932526" "subst" "0" "01804" "WDR45_000150" "g.48932526T>C" "" "" "" "WDR45(NM_001029896.1):c.1019A>G (p.(Asp340Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006804" "0" "30" "X" "48932811" "48932811" "subst" "1.12164E-5" "02325" "WDR45_000151" "g.48932811G>A" "" "" "" "WDR45(NM_007075.4):c.960C>T (p.N320=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006805" "0" "10" "X" "48932930" "48932930" "subst" "0.00668116" "02329" "WDR45_000010" "g.48932930C>T" "" "" "" "WDR45(NM_001029896.1):c.838G>A (p.(Val280Met)), WDR45(NM_007075.3):c.841G>A (p.V281M), WDR45(NM_007075.4):c.841G>A (p.V281M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001006806" "0" "50" "X" "48933033" "48933033" "subst" "0" "01804" "WDR45_000042" "g.48933033G>A" "" "" "" "WDR45(NM_001029896.1):c.817C>T (p.(Arg273Cys)), WDR45(NM_007075.3):c.820C>T (p.R274C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001006807" "0" "30" "X" "48934309" "48934309" "subst" "0" "02325" "WDR45_000018" "g.48934309A>T" "" "" "" "WDR45(NM_007075.3):c.339T>A (p.H113Q), WDR45(NM_007075.4):c.339T>A (p.H113Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001006808" "0" "30" "X" "48935335" "48935335" "subst" "0" "01804" "WDR45_000152" "g.48935335C>T" "" "" "" "WDR45(NM_001029896.1):c.202G>A (p.(Gly68Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001027510" "0" "50" "X" "48935526" "48935526" "subst" "0.00015741" "02325" "WDR45_000021" "g.48935526C>T" "" "" "" "WDR45(NM_001029896.1):c.100G>A (p.(Val34Met)), WDR45(NM_007075.3):c.100G>A (p.V34M), WDR45(NM_007075.4):c.100G>A (p.V34M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001044371" "0" "30" "X" "48925259" "48925259" "subst" "3.83588E-5" "01804" "CCDC120_000029" "g.48925259C>T" "" "" "" "CCDC120(NM_001163321.4):c.1609C>T (p.(Arg537Cys)), CCDC120(NM_001163322.2):c.1468C>T (p.R490C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001044372" "0" "70" "X" "48932791" "48932791" "del" "0" "01804" "WDR45_000154" "g.48932791del" "" "" "" "WDR45(NM_001029896.2):c.973+4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001044373" "0" "50" "X" "48935365" "48935365" "subst" "0" "01804" "WDR45_000155" "g.48935365G>A" "" "" "" "WDR45(NM_001029896.2):c.172C>T (p.(His58Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067678" "0" "50" "X" "48932544" "48932544" "subst" "0" "02325" "WDR45_000161" "g.48932544T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067679" "0" "50" "X" "48933387" "48933387" "subst" "0" "02325" "WDR45_000162" "g.48933387G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001067680" "0" "70" "X" "48934353" "48934353" "subst" "0" "02325" "WDR45_000163" "g.48934353C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "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 PRAF2 ## Count = 89 "{{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}}" "0000254448" "00016738" "30" "-2663" "0" "-2663" "0" "c.-2663T>A" "r.(?)" "p.(=)" "" "0000272740" "00016738" "50" "5039" "0" "5039" "0" "c.*4502C>A" "r.(=)" "p.(=)" "" "0000272741" "00016738" "50" "4959" "0" "4959" "0" "c.*4422G>C" "r.(=)" "p.(=)" "" "0000272742" "00016738" "50" "4833" "0" "4833" "0" "c.*4296C>T" "r.(=)" "p.(=)" "" "0000313062" "00016738" "30" "-2788" "0" "-2788" "0" "c.-2788G>A" "r.(?)" "p.(=)" "" "0000313063" "00016738" "30" "-2528" "0" "-2528" "0" "c.-2528C>T" "r.(?)" "p.(=)" "" "0000313064" "00016738" "30" "-935" "0" "-935" "0" "c.-935C>A" "r.(?)" "p.(=)" "" "0000313708" "00016738" "90" "-2501" "0" "-2501" "0" "c.-2501C>G" "r.(?)" "p.(=)" "" "0000315396" "00016738" "90" "-1932" "0" "-1932" "0" "c.-1932G>T" "r.(?)" "p.(=)" "" "0000315397" "00016738" "90" "-1586" "0" "-1586" "0" "c.-1586C>T" "r.(?)" "p.(=)" "" "0000319850" "00016738" "50" "-3880" "0" "-3880" "0" "c.-3880G>A" "r.(?)" "p.(=)" "" "0000319851" "00016738" "10" "-3638" "0" "-3638" "0" "c.-3638G>T" "r.(?)" "p.(=)" "" "0000319852" "00016738" "30" "-2528" "0" "-2528" "0" "c.-2528C>T" "r.(?)" "p.(=)" "" "0000319853" "00016738" "30" "-2501" "0" "-2501" "0" "c.-2501C>T" "r.(?)" "p.(=)" "" "0000319854" "00016738" "90" "-1624" "0" "-1623" "0" "c.-1624_-1623del" "r.(?)" "p.(=)" "" "0000319855" "00016738" "30" "-1620" "0" "-1620" "0" "c.-1620C>T" "r.(?)" "p.(=)" "" "0000319856" "00016738" "30" "-1284" "0" "-1284" "0" "c.-1284G>A" "r.(?)" "p.(=)" "" "0000319857" "00016738" "50" "-1178" "0" "-1178" "0" "c.-1178A>C" "r.(?)" "p.(=)" "" "0000319858" "00016738" "30" "-3881" "0" "-3881" "0" "c.-3881C>T" "r.(?)" "p.(=)" "" "0000334044" "00016738" "30" "4866" "0" "4866" "0" "c.*4329G>T" "r.(=)" "p.(=)" "" "0000334046" "00016738" "50" "4677" "0" "4677" "0" "c.*4140C>T" "r.(=)" "p.(=)" "" "0000334047" "00016738" "50" "4553" "0" "4553" "0" "c.*4016T>G" "r.(=)" "p.(=)" "" "0000334048" "00016738" "30" "4532" "0" "4532" "0" "c.*3995C>T" "r.(=)" "p.(=)" "" "0000334049" "00016738" "50" "4457" "0" "4457" "0" "c.*3920G>A" "r.(=)" "p.(=)" "" "0000334051" "00016738" "50" "3794" "0" "3794" "0" "c.*3257del" "r.(?)" "p.(=)" "" "0000334052" "00016738" "30" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Leu56Phe)" "" "0000334053" "00016738" "50" "-1230" "0" "-1230" "0" "c.-1230G>A" "r.(?)" "p.(=)" "" "0000334054" "00016738" "30" "-1284" "0" "-1284" "0" "c.-1284G>A" "r.(?)" "p.(=)" "" "0000334055" "00016738" "50" "-3880" "0" "-3880" "0" "c.-3880G>A" "r.(?)" "p.(=)" "" "0000338320" "00016738" "70" "397" "1" "397" "1" "c.397+1G>A" "r.spl?" "p.?" "" "0000338321" "00016738" "10" "-3638" "0" "-3638" "0" "c.-3638G>T" "r.(?)" "p.(=)" "" "0000339148" "00016738" "90" "-1464" "0" "-1460" "0" "c.-1464_-1460dup" "r.(?)" "p.(=)" "" "0000349856" "00016738" "70" "-2753" "0" "-2753" "0" "c.-2753G>A" "r.(?)" "p.(=)" "" "0000351243" "00016738" "70" "-1295" "0" "-1295" "0" "c.-1295G>A" "r.(?)" "p.(=)" "" "0000351244" "00016738" "90" "-1375" "0" "-1375" "0" "c.-1375T>A" "r.(?)" "p.(=)" "" "0000576305" "00016738" "50" "5334" "0" "5334" "0" "c.*4797G>A" "r.(=)" "p.(=)" "" "0000576306" "00016738" "30" "5028" "0" "5028" "0" "c.*4491G>T" "r.(=)" "p.(=)" "" "0000576307" "00016738" "30" "5028" "0" "5028" "0" "c.*4491G>T" "r.(=)" "p.(=)" "" "0000576309" "00016738" "30" "-1178" "0" "-1178" "0" "c.-1178A>C" "r.(?)" "p.(=)" "" "0000576310" "00016738" "90" "-1455" "0" "-1453" "0" "c.-1455_-1453del" "r.(?)" "p.(=)" "" "0000576311" "00016738" "70" "-1588" "0" "-1588" "0" "c.-1588G>A" "r.(?)" "p.(=)" "" "0000576312" "00016738" "70" "-1589" "0" "-1589" "0" "c.-1589C>T" "r.(?)" "p.(=)" "" "0000576313" "00016738" "90" "-1666" "0" "-1665" "0" "c.-1666_-1665dup" "r.(?)" "p.(=)" "" "0000576314" "00016738" "30" "-1694" "0" "-1694" "0" "c.-1694T>C" "r.(?)" "p.(=)" "" "0000576315" "00016738" "50" "-2433" "0" "-2433" "0" "c.-2433C>T" "r.(?)" "p.(=)" "" "0000576317" "00016738" "10" "-2528" "0" "-2528" "0" "c.-2528C>T" "r.(?)" "p.(=)" "" "0000576318" "00016738" "50" "-2707" "0" "-2707" "0" "c.-2707G>C" "r.(?)" "p.(=)" "" "0000576319" "00016738" "50" "-3744" "0" "-3744" "0" "c.-3744C>T" "r.(?)" "p.(=)" "" "0000576320" "00016738" "50" "-3898" "0" "-3898" "0" "c.-3898G>A" "r.(?)" "p.(=)" "" "0000619646" "00016738" "30" "5288" "0" "5288" "0" "c.*4751G>A" "r.(=)" "p.(=)" "" "0000619647" "00016738" "30" "-2425" "0" "-2425" "0" "c.-2425C>T" "r.(?)" "p.(=)" "" "0000619648" "00016738" "10" "-3638" "0" "-3638" "0" "c.-3638G>T" "r.(?)" "p.(=)" "" "0000659345" "00016738" "50" "4631" "0" "4631" "0" "c.*4094C>T" "r.(=)" "p.(=)" "" "0000659346" "00016738" "50" "-1387" "0" "-1387" "0" "c.-1387C>T" "r.(?)" "p.(=)" "" "0000667327" "00016738" "50" "0" "0" "0" "0" "c.-16_*710[0]" "r.?" "p.?" "_1_3_" "0000682481" "00016738" "30" "-1717" "0" "-1717" "0" "c.-1717A>G" "r.(?)" "p.(=)" "" "0000682482" "00016738" "90" "-1878" "0" "-1876" "0" "c.-1878_-1876del" "r.(?)" "p.(=)" "" "0000693630" "00016738" "50" "5208" "0" "5208" "0" "c.*4671G>A" "r.(=)" "p.(=)" "" "0000693631" "00016738" "30" "350" "0" "350" "0" "c.350C>T" "r.(?)" "p.(Ala117Val)" "" "0000728977" "00016738" "30" "4741" "0" "4741" "0" "c.*4204G>A" "r.(=)" "p.(=)" "" "0000728978" "00016738" "30" "4734" "0" "4734" "0" "c.*4197G>A" "r.(=)" "p.(=)" "" "0000728979" "00016738" "50" "4697" "0" "4697" "0" "c.*4160G>A" "r.(=)" "p.(=)" "" "0000728980" "00016738" "30" "-1178" "0" "-1178" "0" "c.-1178A>C" "r.(?)" "p.(=)" "" "0000728981" "00016738" "90" "-3761" "0" "-3761" "0" "c.-3761G>C" "r.(?)" "p.(=)" "" "0000810462" "00016738" "50" "4926" "0" "4926" "0" "c.*4389A>C" "r.(=)" "p.(=)" "" "0000810463" "00016738" "50" "-3768" "0" "-3768" "0" "c.-3768C>A" "r.(?)" "p.(=)" "" "0000856659" "00016738" "30" "5050" "0" "5050" "0" "c.*4513G>A" "r.(=)" "p.(=)" "" "0000856660" "00016738" "50" "4806" "0" "4806" "0" "c.*4269G>A" "r.(=)" "p.(=)" "" "0000856661" "00016738" "50" "42" "0" "42" "0" "c.42C>A" "r.(?)" "p.(Asp14Glu)" "" "0000856663" "00016738" "90" "-3708" "0" "-3708" "0" "c.-3708C>A" "r.(?)" "p.(=)" "" "0000867419" "00016738" "30" "-854" "0" "-854" "0" "c.-854G>A" "r.(?)" "p.(=)" "" "0000867420" "00016738" "30" "-1186" "0" "-1186" "0" "c.-1186C>T" "r.(?)" "p.(=)" "" "0000984724" "00016738" "30" "-1717" "0" "-1717" "0" "c.-1717A>G" "r.(?)" "p.(=)" "" "0000984725" "00016738" "30" "-2771" "0" "-2771" "0" "c.-2771C>A" "r.(?)" "p.(=)" "" "0001006801" "00016738" "50" "355" "0" "355" "0" "c.355G>C" "r.(?)" "p.(Gly119Arg)" "" "0001006802" "00016738" "30" "71" "0" "71" "0" "c.71C>T" "r.(?)" "p.(Ala24Val)" "" "0001006803" "00016738" "50" "-880" "0" "-880" "0" "c.-880A>G" "r.(?)" "p.(=)" "" "0001006804" "00016738" "30" "-1165" "0" "-1165" "0" "c.-1165C>T" "r.(?)" "p.(=)" "" "0001006805" "00016738" "10" "-1284" "0" "-1284" "0" "c.-1284G>A" "r.(?)" "p.(=)" "" "0001006806" "00016738" "50" "-1387" "0" "-1387" "0" "c.-1387C>T" "r.(?)" "p.(=)" "" "0001006807" "00016738" "30" "-2663" "0" "-2663" "0" "c.-2663T>A" "r.(?)" "p.(=)" "" "0001006808" "00016738" "30" "-3689" "0" "-3689" "0" "c.-3689G>A" "r.(?)" "p.(=)" "" "0001027510" "00016738" "50" "-3880" "0" "-3880" "0" "c.-3880G>A" "r.(?)" "p.(=)" "" "0001044371" "00016738" "30" "4806" "0" "4806" "0" "c.*4269G>A" "r.(=)" "p.(=)" "" "0001044372" "00016738" "70" "-1145" "0" "-1145" "0" "c.-1145del" "r.(?)" "p.(=)" "" "0001044373" "00016738" "50" "-3719" "0" "-3719" "0" "c.-3719C>T" "r.(?)" "p.(=)" "" "0001067678" "00016738" "50" "-898" "0" "-898" "0" "c.-898A>C" "r.(?)" "p.(=)" "" "0001067679" "00016738" "50" "-1741" "0" "-1741" "0" "c.-1741C>A" "r.(?)" "p.(=)" "" "0001067680" "00016738" "70" "-2707" "0" "-2707" "0" "c.-2707G>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000303938" "0000667327"