### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DHX30) # 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}}" "DHX30" "DEAH (Asp-Glu-Ala-His) box polypeptide 30" "3" "p24.3-p22.1" "unknown" "NC_000003.11" "UD_132463811535" "" "https://www.LOVD.nl/DHX30" "" "1" "16716" "22907" "616423" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/DHX30_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-04-09 08:40:51" "00000" "2024-08-28 13:16:32" ## 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}}" "00006406" "DHX30" "transcript variant 1" "002" "NM_138615.2" "" "NP_619520.1" "" "" "" "-426" "3661" "3585" "47844399" "47891686" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "05920" "NEDMIAL" "neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL)" "AD" "617804" "" "" "" "00006" "2021-04-09 08:40:02" "00006" "2021-04-09 08:40:27" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DHX30" "05611" "DHX30" "05920" ## Individuals ## Do not remove or alter this header ## ## Count = 32 "{{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}}" "00103885" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBH5706_1" "00103886" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatBG" "00103887" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatGeneMatcher/HUGODIMS" "00103888" "" "" "" "1" "" "00006" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "United States" "" "0" "" "" "" "28327206-PatGeneMatcher" "00119078" "" "" "" "1" "" "01296" "" "" "" "" "" "" "0" "" "" "" "" "00119079" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "0" "" "" "" "" "00119080" "" "" "" "1" "" "01296" "" "" "M" "" "" "" "0" "" "" "" "" "00119081" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "0" "" "" "" "" "00119082" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "0" "" "" "" "" "00119083" "" "" "" "1" "" "01296" "" "" "M" "" "" "" "0" "" "" "" "" "00119084" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "0" "" "" "" "" "00119085" "" "" "" "1" "" "01296" "" "" "M" "" "" "" "0" "" "" "" "" "00361735" "" "" "" "1" "" "01296" "" "" "F" "?" "" "" "0" "" "" "" "" "00361736" "" "" "" "1" "" "01296" "" "" "M" "yes" "" "" "" "" "" "" "" "00361737" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "" "" "" "" "" "00361738" "" "" "" "1" "" "01296" "" "" "M" "" "" "" "" "" "" "" "" "00361739" "" "" "" "1" "" "01296" "" "" "M" "" "" "" "" "" "" "" "" "00361740" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "" "" "" "" "" "00361741" "" "" "" "1" "" "01296" "" "" "F" "" "" "" "" "" "" "" "" "00361742" "" "" "" "1" "" "01296" "" "" "M" "" "" "" "" "" "" "" "" "00361750" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "France" "" "0" "" "" "" "PatA" "00361751" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Netherlands" "" "0" "" "" "" "PatB" "00361752" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Turkey" "" "0" "" "" "" "PatC" "00361753" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "Yemenite;Tripolitan;Jewish" "PatD" "00361754" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "white, Europe" "PatE" "00361755" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "Hispanic" "PatF" "00361756" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "" "" "0" "" "" "" "PatG" "00361757" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "PatH" "00361758" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Honduras" "" "0" "" "" "Europe-NotrhWest;Honduras" "PatI" "00361759" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "Mexico" "" "0" "" "" "" "PatJ" "00361760" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "no" "Netherlands" "" "0" "" "" "" "PatK" "00361761" "" "" "" "1" "" "00006" "{PMID:Lessel 2017:29100085}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "white, Europe" "PatL" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 24 "{{individualid}}" "{{diseaseid}}" "00103885" "00198" "00103886" "00198" "00103887" "00198" "00103888" "00198" "00361735" "05611" "00361736" "05611" "00361737" "05611" "00361738" "05611" "00361739" "05611" "00361740" "05611" "00361741" "05611" "00361742" "05611" "00361750" "05611" "00361751" "05611" "00361752" "05611" "00361753" "05611" "00361754" "05611" "00361755" "05611" "00361756" "05611" "00361757" "05611" "00361758" "05611" "00361759" "05611" "00361760" "05611" "00361761" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05611, 05920 ## Count = 16 "{{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}}" "0000081812" "00198" "00103885" "00006" "Isolated (sporadic)" "" "developmental delay, intellectual disability, hypotonia, abnormal EEG, microcephaly, short stature, failure to thrive, hirsutism, mild cerebral volume loss" "" "" "" "" "" "" "" "" "" "" "" "0000081813" "00198" "00103886" "00006" "Isolated (sporadic)" "" "intellectual disability, ataxic gait, dysmorphic features, microcephaly, short stature, scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000081814" "00198" "00103887" "00006" "Isolated (sporadic)" "" "seizures, microcephaly, short stature, strabismus, oculomotor apraxia, unsteady gait" "" "" "" "" "" "" "" "" "" "" "" "0000081815" "00198" "00103888" "00006" "Isolated (sporadic)" "" "developmental delay, speech delay, sleep disturbance, microcephaly, truncal and orofacial hypotonia, strabismus on the right, hyperopia and bilateral hearing loss" "" "" "" "" "" "" "" "" "" "" "" "0000257141" "05611" "00361750" "00006" "Isolated (sporadic)" "3y9m" "see paper; ..., intellectual disability; speech 20 words, 1y8m-first words; motor development delay; muscular hypotonia; 2y8m-walk; ataxic; autistic features; sleep disturbance; seizures; feeding difficulties; strabismus; joint hypermobility; cerebral MRI normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257142" "05611" "00361751" "00006" "Isolated (sporadic)" "13y" "see paper; ..., intellectual disability; speech 4 words, 4y-first words; motor development delay; muscular hypotonia; 6y-walk; ataxic; no autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257143" "05611" "00361752" "00006" "Isolated (sporadic)" "6y3m" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; sleep disturbance; no seizures; no feeding difficulties; strabismus; joint hypermobility; cerebral MRI normal" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257144" "05611" "00361753" "00006" "Isolated (sporadic)" "8y" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; sleep disturbance; seizures; no feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, enlarged ventricles" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257145" "05611" "00361754" "00006" "Isolated (sporadic)" "17y" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 6y-walk; ataxic; only short distances independent; autistic features; no sleep disturbance; no seizures; feeding difficulties; no strabismus; joint hypermobility; cerebral MRI cortical atrophy, dilated ventricles" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257146" "05611" "00361755" "00006" "Isolated (sporadic)" "14y" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; no sleep disturbance; no seizures; feeding difficulties; no strabismus; joint hypermobility; cerebral MRI mild cerebral atrophy" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257147" "05611" "00361756" "00006" "Isolated (sporadic)" "14y2m" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 3y-walk; ataxic; autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI delayed myelination" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257148" "05611" "00361757" "00006" "Isolated (sporadic)" "8y" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; sleep disturbance; no seizures; feeding difficulties; no strabismus; no joint hypermobility; cerebral MRI cerebral atrophy, delayed myelination, dilated ventricles" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257149" "05611" "00361758" "00006" "Isolated (sporadic)" "6y1m" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; autistic features; sleep disturbance; seizures; feeding difficulties; strabismus; joint hypermobility; cerebral MRI cerebral atrophy" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257150" "05611" "00361759" "00006" "Isolated (sporadic)" "4y8m" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; not walking; no independent walking; no autistic features; no sleep disturbance; no seizures; feeding difficulties; strabismus; no joint hypermobility; cerebral MRI delayed myelination, dilated ventricles, corpus callosal abnormalities" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257151" "05611" "00361760" "00006" "Isolated (sporadic)" "6y5m" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 5y-walk; ataxic; autistic features; no sleep disturbance; no seizures; no feeding difficulties; strabismus; joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, dilated ventricles" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" "0000257152" "05611" "00361761" "00006" "Isolated (sporadic)" "4y8m" "see paper; ..., intellectual disability; no speech; motor development delay; muscular hypotonia; 8y-walk; ataxic; no autistic features; no sleep disturbance; no seizures; feeding difficulties; strabismus; no joint hypermobility; cerebral MRI delayed myelination, cerebellar atrophy, dilated ventricles" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## Screenings ## Do not remove or alter this header ## ## Count = 32 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000104343" "00103885" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104344" "00103886" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104345" "00103887" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000104346" "00103888" "1" "00006" "00006" "2017-04-22 16:52:53" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000119541" "00119078" "1" "01296" "01296" "2017-09-06 14:18:09" "" "" "SEQ-NG-S" "DNA" "" "" "0000119542" "00119079" "1" "01296" "01296" "2017-09-06 14:22:43" "" "" "SEQ-NG-S" "DNA" "" "" "0000119543" "00119080" "1" "01296" "01296" "2017-09-06 14:24:57" "" "" "SEQ-NG-S" "DNA" "" "" "0000119544" "00119081" "1" "01296" "01296" "2017-09-06 14:26:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000119545" "00119082" "1" "01296" "01296" "2017-09-06 14:28:24" "" "" "SEQ-NG-S" "DNA" "" "" "0000119546" "00119083" "1" "01296" "01296" "2017-09-06 14:30:08" "" "" "SEQ-NG-S" "DNA" "" "" "0000119547" "00119084" "1" "01296" "01296" "2017-09-06 14:31:53" "" "" "SEQ-NG-S" "DNA" "" "" "0000119548" "00119085" "1" "01296" "01296" "2017-09-06 14:33:19" "" "" "SEQ-NG-S" "DNA" "" "" "0000362963" "00361735" "1" "01296" "01296" "2021-04-08 15:17:00" "" "" "SEQ-NG" "DNA" "" "" "0000362964" "00361736" "1" "01296" "01296" "2021-04-08 15:20:29" "" "" "SEQ-NG" "DNA" "" "" "0000362965" "00361737" "1" "01296" "01296" "2021-04-08 15:23:05" "" "" "SEQ-NG" "DNA" "" "" "0000362966" "00361738" "1" "01296" "01296" "2021-04-08 15:25:00" "" "" "SEQ-NG" "DNA" "" "" "0000362967" "00361739" "1" "01296" "01296" "2021-04-08 15:28:33" "" "" "SEQ-NG" "DNA" "" "" "0000362968" "00361740" "1" "01296" "01296" "2021-04-08 15:30:37" "" "" "SEQ-NG" "DNA" "" "" "0000362969" "00361741" "1" "01296" "01296" "2021-04-08 15:37:57" "" "" "SEQ-NG" "DNA" "" "" "0000362970" "00361742" "1" "01296" "01296" "2021-04-08 15:40:15" "" "" "SEQ-NG" "DNA" "" "" "0000362978" "00361750" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362979" "00361751" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362980" "00361752" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362981" "00361753" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362982" "00361754" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362983" "00361755" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362984" "00361756" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000362985" "00361757" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362986" "00361758" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362987" "00361759" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362988" "00361760" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000362989" "00361761" "1" "00006" "00006" "2021-04-09 09:19:14" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 16 "{{screeningid}}" "{{geneid}}" "0000104343" "DHX30" "0000104344" "DHX30" "0000104345" "DHX30" "0000104346" "DHX30" "0000362978" "DHX30" "0000362979" "DHX30" "0000362980" "DHX30" "0000362981" "DHX30" "0000362982" "DHX30" "0000362983" "DHX30" "0000362984" "DHX30" "0000362985" "DHX30" "0000362986" "DHX30" "0000362987" "DHX30" "0000362988" "DHX30" "0000362989" "DHX30" ## 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 = 64 "{{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}}" "0000169023" "1" "90" "3" "47889727" "47889727" "subst" "0" "00006" "DHX30_000001" "g.47889727C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.47848237C>T" "" "pathogenic" "" "0000169024" "1" "90" "3" "47889727" "47889727" "subst" "0" "00006" "DHX30_000001" "g.47889727C>T" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.47848237C>T" "" "pathogenic" "" "0000169025" "1" "90" "3" "47888040" "47888040" "subst" "0" "00006" "DHX30_000003" "g.47888040G>A" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.47846550G>A" "" "pathogenic" "" "0000169026" "1" "90" "3" "47888247" "47888247" "subst" "0" "00006" "DHX30_000002" "g.47888247A>G" "" "{PMID:Eldomery 2017:28327206}, {DOI:Eldomery 2017:10.1186/s13073-017-0412-6}" "" "" "" "De novo" "" "" "0" "" "" "g.47846757A>G" "" "pathogenic" "" "0000195646" "0" "90" "3" "47888040" "47888040" "subst" "0" "01296" "DHX30_000003" "g.47888040G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47846550G>A" "" "pathogenic" "" "0000195647" "0" "90" "3" "47889725" "47889725" "subst" "0" "01296" "DHX30_000004" "g.47889725G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848235G>A" "" "pathogenic" "" "0000195648" "0" "90" "3" "47889725" "47889725" "subst" "0" "01296" "DHX30_000004" "g.47889725G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848235G>A" "" "pathogenic" "" "0000195649" "0" "90" "3" "47889727" "47889727" "subst" "0" "01296" "DHX30_000001" "g.47889727C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848237C>T" "" "pathogenic" "" "0000195650" "0" "90" "3" "47889736" "47889736" "subst" "0" "01296" "DHX30_000005" "g.47889736C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848246C>T" "" "pathogenic" "" "0000195651" "0" "90" "3" "47889736" "47889736" "subst" "0" "01296" "DHX30_000005" "g.47889736C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848246C>T" "" "pathogenic" "" "0000195652" "0" "90" "3" "47889736" "47889736" "subst" "0" "01296" "DHX30_000005" "g.47889736C>T" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848246C>T" "" "pathogenic" "" "0000195653" "0" "90" "3" "47889737" "47889737" "subst" "0" "01296" "DHX30_000006" "g.47889737G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.47848247G>A" "" "pathogenic" "" "0000340711" "0" "10" "3" "47891240" "47891240" "subst" "5.70893E-5" "02327" "DHX30_000008" "g.47891240C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47849750C>T" "" "benign" "" "0000342934" "0" "90" "3" "47888040" "47888040" "subst" "0" "02327" "DHX30_000003" "g.47888040G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47846550G>A" "" "pathogenic" "" "0000343328" "0" "50" "3" "47889727" "47889727" "subst" "0" "02327" "DHX30_000001" "g.47889727C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47848237C>T" "" "VUS" "" "0000343360" "0" "70" "3" "47889736" "47889736" "subst" "0" "02327" "DHX30_000005" "g.47889736C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47848246C>T" "" "likely pathogenic" "" "0000351225" "0" "10" "3" "47884576" "47884576" "subst" "0.000702001" "02327" "DHX30_000007" "g.47884576C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.47843086C>T" "" "benign" "" "0000520053" "0" "30" "3" "47887202" "47887202" "subst" "4.08604E-6" "01804" "DHX30_000010" "g.47887202G>A" "" "" "" "DHX30(NM_014966.3):c.835G>A (p.(Val279Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47845712G>A" "" "likely benign" "" "0000520054" "0" "70" "3" "47889728" "47889728" "subst" "0" "02327" "DHX30_000011" "g.47889728G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47848238G>A" "" "likely pathogenic" "" "0000520055" "0" "30" "3" "47890678" "47890678" "subst" "0.00437858" "01804" "DHX30_000012" "g.47890678C>T" "" "" "" "DHX30(NM_014966.3):c.2813-4C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47849188C>T" "" "likely benign" "" "0000608757" "0" "50" "3" "47883161" "47883161" "subst" "4.06058E-6" "02325" "DHX30_000013" "g.47883161G>C" "" "" "" "DHX30(NM_001330990.2):c.639G>C (p.Q213H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47841671G>C" "" "VUS" "" "0000608758" "0" "50" "3" "47888354" "47888354" "subst" "0" "02327" "DHX30_000014" "g.47888354C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47846864C>T" "" "VUS" "" "0000654976" "0" "50" "3" "47890503" "47890503" "subst" "8.14292E-6" "02325" "DHX30_000015" "g.47890503C>T" "" "" "" "DHX30(NM_138615.3):c.2863C>T (p.R955C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.47849013C>T" "" "VUS" "" "0000719467" "0" "50" "3" "47887796" "47887796" "subst" "8.12645E-6" "02329" "DHX30_000016" "g.47887796C>T" "" "" "" "DHX30(NM_001330990.1):c.1150C>T (p.R384C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719468" "0" "30" "3" "47887816" "47887816" "subst" "2.03179E-5" "01943" "DHX30_000017" "g.47887816A>G" "" "" "" "DHX30(NM_138615.3):c.1254A>G (p.L418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719469" "0" "50" "3" "47887929" "47887929" "subst" "1.22143E-5" "01943" "DHX30_000018" "g.47887929C>T" "" "" "" "DHX30(NM_138615.3):c.1367C>T (p.S456F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719470" "0" "50" "3" "47888058" "47888059" "del" "0" "02325" "DHX30_000019" "g.47888058_47888059del" "" "" "" "DHX30(NM_138615.3):c.1496_1497delTG (p.V499Gfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719471" "0" "50" "3" "47890245" "47890245" "subst" "0" "02325" "DHX30_000020" "g.47890245G>A" "" "" "" "DHX30(NM_138615.3):c.2707G>A (p.V903I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763353" "0" "70" "3" "47887947" "47887947" "subst" "0" "01296" "DHX30_000021" "g.47887947G>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "" "0000763354" "0" "70" "3" "47889334" "47889334" "subst" "0" "01296" "DHX30_000022" "g.47889334G>A" "" "" "" "" "" "Germline" "yes" "" "" "" "" "" "" "VUS" "" "0000763355" "0" "90" "3" "47889361" "47889361" "subst" "0" "01296" "DHX30_000023" "g.47889361C>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000763356" "0" "90" "3" "47889375" "47889375" "subst" "0" "01296" "DHX30_000024" "g.47889375A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "ACMG" "0000763357" "0" "90" "3" "47889728" "47889728" "subst" "0" "01296" "DHX30_000011" "g.47889728G>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "" "" "pathogenic" "ACMG" "0000763358" "0" "90" "3" "47890261" "47890261" "subst" "0" "01296" "DHX30_000025" "g.47890261G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" "" "0000763359" "0" "90" "3" "47870605" "47870618" "del" "0" "01296" "DHX30_000026" "g.47870605_47870618del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.47829115_47829128del" "" "likely pathogenic" "" "0000763360" "0" "90" "3" "47889772" "47889772" "subst" "0" "01296" "DHX30_000027" "g.47889772C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000763368" "0" "90" "3" "47888040" "47888040" "subst" "0" "00006" "DHX30_000003" "g.47888040G>A" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47846550G>A" "" "pathogenic (dominant)" "" "0000763369" "0" "90" "3" "47888040" "47888040" "subst" "0" "00006" "DHX30_000003" "g.47888040G>A" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47846550G>A" "" "pathogenic (dominant)" "" "0000763370" "0" "90" "3" "47888247" "47888247" "subst" "0" "00006" "DHX30_000002" "g.47888247A>G" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47846757A>G" "" "pathogenic (dominant)" "" "0000763371" "0" "90" "3" "47889725" "47889725" "subst" "0" "00006" "DHX30_000004" "g.47889725G>A" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848235G>A" "" "pathogenic (dominant)" "" "0000763372" "0" "90" "3" "47889725" "47889725" "subst" "0" "00006" "DHX30_000004" "g.47889725G>A" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848235G>A" "" "pathogenic (dominant)" "" "0000763373" "0" "90" "3" "47889727" "47889727" "subst" "0" "00006" "DHX30_000001" "g.47889727C>T" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848237C>T" "" "pathogenic (dominant)" "" "0000763374" "0" "90" "3" "47889727" "47889727" "subst" "0" "00006" "DHX30_000001" "g.47889727C>T" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848237C>T" "" "pathogenic (dominant)" "" "0000763375" "0" "90" "3" "47889727" "47889727" "subst" "0" "00006" "DHX30_000001" "g.47889727C>T" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848237C>T" "" "pathogenic (dominant)" "" "0000763376" "0" "90" "3" "47889736" "47889736" "subst" "0" "00006" "DHX30_000005" "g.47889736C>T" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848246C>T" "" "pathogenic (dominant)" "" "0000763377" "0" "90" "3" "47889736" "47889736" "subst" "0" "00006" "DHX30_000005" "g.47889736C>T" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848246C>T" "" "pathogenic (dominant)" "" "0000763378" "0" "90" "3" "47889736" "47889736" "subst" "0" "00006" "DHX30_000005" "g.47889736C>T" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848246C>T" "" "pathogenic (dominant)" "" "0000763379" "0" "90" "3" "47889737" "47889737" "subst" "0" "00006" "DHX30_000006" "g.47889737G>A" "" "{PMID:Lessel 2017:29100085}" "" "" "" "De novo" "" "" "0" "" "" "g.47848247G>A" "" "pathogenic (dominant)" "" "0000801260" "0" "50" "3" "47883144" "47883144" "subst" "0" "01804" "DHX30_000028" "g.47883144A>G" "" "" "" "DHX30(NM_014966.3):c.589A>G (p.(Ile197Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801261" "0" "50" "3" "47888096" "47888096" "subst" "0" "02325" "DHX30_000029" "g.47888096C>T" "" "" "" "DHX30(NM_138615.3):c.1534C>T (p.R512C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801262" "0" "50" "3" "47888153" "47888153" "subst" "0" "02327" "DHX30_000030" "g.47888153G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801263" "0" "50" "3" "47890182" "47890182" "subst" "0" "01943" "DHX30_000031" "g.47890182C>T" "" "" "" "DHX30(NM_001330990.1):c.2560C>T (p.R854W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850353" "0" "50" "3" "47888490" "47888491" "ins" "0" "02325" "DHX30_000032" "g.47888490_47888491insTG" "" "" "" "DHX30(NM_138615.3):c.1928_1929insTG (p.E643Dfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850354" "0" "50" "3" "47888493" "47888493" "subst" "0" "02325" "DHX30_000033" "g.47888493T>G" "" "" "" "DHX30(NM_138615.3):c.1929+2T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975863" "0" "30" "3" "47888367" "47888367" "subst" "0.000135216" "02325" "DHX30_000035" "g.47888367A>T" "" "" "" "DHX30(NM_138615.3):c.1805A>T (p.Y602F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975864" "0" "30" "3" "47888916" "47888916" "subst" "0" "01804" "DHX30_000036" "g.47888916T>C" "" "" "" "DHX30(NM_138615.3):c.2006-6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993735" "0" "30" "3" "47882509" "47882509" "subst" "2.43708E-5" "01804" "DHX30_000037" "g.47882509C>G" "" "" "" "DHX30(NM_138615.2):c.509C>G (p.(Pro170Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993736" "0" "30" "3" "47887248" "47887248" "subst" "2.43835E-5" "01804" "DHX30_000038" "g.47887248C>T" "" "" "" "DHX30(NM_138615.2):c.998C>T (p.(Ala333Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993737" "0" "50" "3" "47887680" "47887680" "subst" "0" "01804" "DHX30_000039" "g.47887680C>G" "" "" "" "DHX30(NM_138615.2):c.1118C>G (p.(Ala373Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993738" "0" "50" "3" "47888310" "47888310" "subst" "2.47427E-5" "01804" "DHX30_000040" "g.47888310C>T" "" "" "" "DHX30(NM_138615.2):c.1748C>T (p.(Pro583Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993739" "0" "30" "3" "47888997" "47888997" "subst" "4.1436E-6" "01804" "DHX30_000041" "g.47888997T>C" "" "" "" "DHX30(NM_138615.2):c.2081T>C (p.(Met694Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993740" "0" "30" "3" "47889748" "47889748" "subst" "4.07146E-6" "01804" "DHX30_000042" "g.47889748G>A" "" "" "" "DHX30(NM_138615.2):c.2365G>A (p.(Gly789Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993741" "0" "30" "3" "47890510" "47890510" "subst" "2.44292E-5" "01804" "DHX30_000043" "g.47890510C>T" "" "" "" "DHX30(NM_138615.2):c.2870C>T (p.(Ser957Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993742" "0" "30" "3" "47891428" "47891428" "subst" "2.05113E-5" "01804" "DHX30_000044" "g.47891428G>A" "" "" "" "DHX30(NM_138615.2):c.3403G>A (p.(Val1135Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 DHX30 ## Count = 64 "{{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}}" "0000169023" "00006406" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "15" "0000169024" "00006406" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "15" "0000169025" "00006406" "90" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "11" "0000169026" "00006406" "90" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "11" "0000195646" "00006406" "90" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000195647" "00006406" "90" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Gly781Asp)" "" "0000195648" "00006406" "90" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Gly781Asp)" "" "0000195649" "00006406" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "" "0000195650" "00006406" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000195651" "00006406" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000195652" "00006406" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000195653" "00006406" "90" "2354" "0" "2354" "0" "c.2354G>A" "r.(?)" "p.(Arg785His)" "" "0000340711" "00006406" "10" "3312" "0" "3312" "0" "c.3312C>T" "r.(?)" "p.(Asp1104=)" "" "0000342934" "00006406" "90" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000343328" "00006406" "50" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "" "0000343360" "00006406" "70" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000351225" "00006406" "10" "790" "-20" "790" "-20" "c.790-20C>T" "r.(=)" "p.(=)" "" "0000520053" "00006406" "30" "952" "0" "952" "0" "c.952G>A" "r.(?)" "p.(Val318Met)" "" "0000520054" "00006406" "70" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Arg782Gln)" "" "0000520055" "00006406" "30" "2930" "-4" "2930" "-4" "c.2930-4C>T" "r.spl?" "p.?" "" "0000608757" "00006406" "50" "723" "0" "723" "0" "c.723G>C" "r.(?)" "p.(Gln241His)" "" "0000608758" "00006406" "50" "1792" "0" "1792" "0" "c.1792C>T" "r.(?)" "p.(Arg598Cys)" "" "0000654976" "00006406" "50" "2863" "0" "2863" "0" "c.2863C>T" "r.(?)" "p.(Arg955Cys)" "" "0000719467" "00006406" "50" "1234" "0" "1234" "0" "c.1234C>T" "r.(?)" "p.(Arg412Cys)" "" "0000719468" "00006406" "30" "1254" "0" "1254" "0" "c.1254A>G" "r.(?)" "p.(Leu418=)" "" "0000719469" "00006406" "50" "1367" "0" "1367" "0" "c.1367C>T" "r.(?)" "p.(Ser456Phe)" "" "0000719470" "00006406" "50" "1496" "0" "1497" "0" "c.1496_1497del" "r.(?)" "p.(Val499Glyfs*25)" "" "0000719471" "00006406" "50" "2707" "0" "2707" "0" "c.2707G>A" "r.(?)" "p.(Val903Ile)" "" "0000763353" "00006406" "70" "1385" "0" "1385" "0" "c.1385G>A" "r.(?)" "p.(Gly462Glu)" "" "0000763354" "00006406" "70" "2174" "0" "2174" "0" "c.2174G>A" "r.(?)" "p.(Arg725His)" "" "0000763355" "00006406" "90" "2201" "0" "2201" "0" "c.2201C>A" "r.(?)" "p.(Ala734Asp)" "" "0000763356" "00006406" "90" "2215" "0" "2215" "0" "c.2215A>G" "r.(?)" "p.(Thr739Ala)" "" "0000763357" "00006406" "90" "2345" "0" "2345" "0" "c.2345G>A" "r.(?)" "p.(Arg782Gln)" "" "0000763358" "00006406" "90" "2723" "0" "2723" "0" "c.2723G>A" "r.(?)" "p.(Arg908Gln)" "" "0000763359" "00006406" "90" "347" "0" "360" "0" "c.347_360del" "r.(?)" "p.(Ala116Valfs*12)" "" "0000763360" "00006406" "90" "2389" "0" "2389" "0" "c.2389C>T" "r.(?)" "p.(Arg797*)" "" "0000763368" "00006406" "90" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000763369" "00006406" "90" "1478" "0" "1478" "0" "c.1478G>A" "r.(?)" "p.(Arg493His)" "" "0000763370" "00006406" "90" "1685" "0" "1685" "0" "c.1685A>G" "r.(?)" "p.(His562Arg)" "" "0000763371" "00006406" "90" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Gly781Asp)" "" "0000763372" "00006406" "90" "2342" "0" "2342" "0" "c.2342G>A" "r.(?)" "p.(Gly781Asp)" "" "0000763373" "00006406" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "" "0000763374" "00006406" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "" "0000763375" "00006406" "90" "2344" "0" "2344" "0" "c.2344C>T" "r.(?)" "p.(Arg782Trp)" "" "0000763376" "00006406" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000763377" "00006406" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000763378" "00006406" "90" "2353" "0" "2353" "0" "c.2353C>T" "r.(?)" "p.(Arg785Cys)" "" "0000763379" "00006406" "90" "2354" "0" "2354" "0" "c.2354G>A" "r.(?)" "p.(Arg785His)" "" "0000801260" "00006406" "50" "706" "0" "706" "0" "c.706A>G" "r.(?)" "p.(Ile236Val)" "" "0000801261" "00006406" "50" "1534" "0" "1534" "0" "c.1534C>T" "r.(?)" "p.(Arg512Cys)" "" "0000801262" "00006406" "50" "1591" "0" "1591" "0" "c.1591G>T" "r.(?)" "p.(Ala531Ser)" "" "0000801263" "00006406" "50" "2644" "0" "2644" "0" "c.2644C>T" "r.(?)" "p.(Arg882Trp)" "" "0000850353" "00006406" "50" "1928" "0" "1929" "0" "c.1928_1929insTG" "r.(?)" "p.(Glu643Aspfs*14)" "" "0000850354" "00006406" "50" "1929" "2" "1929" "2" "c.1929+2T>G" "r.spl?" "p.?" "" "0000975863" "00006406" "30" "1805" "0" "1805" "0" "c.1805A>T" "r.(?)" "p.(Tyr602Phe)" "" "0000975864" "00006406" "30" "2006" "-6" "2006" "-6" "c.2006-6T>C" "r.(=)" "p.(=)" "" "0000993735" "00006406" "30" "509" "0" "509" "0" "c.509C>G" "r.(?)" "p.(Pro170Arg)" "" "0000993736" "00006406" "30" "998" "0" "998" "0" "c.998C>T" "r.(?)" "p.(Ala333Val)" "" "0000993737" "00006406" "50" "1118" "0" "1118" "0" "c.1118C>G" "r.(?)" "p.(Ala373Gly)" "" "0000993738" "00006406" "50" "1748" "0" "1748" "0" "c.1748C>T" "r.(?)" "p.(Pro583Leu)" "" "0000993739" "00006406" "30" "2081" "0" "2081" "0" "c.2081T>C" "r.(?)" "p.(Met694Thr)" "" "0000993740" "00006406" "30" "2365" "0" "2365" "0" "c.2365G>A" "r.(?)" "p.(Gly789Ser)" "" "0000993741" "00006406" "30" "2870" "0" "2870" "0" "c.2870C>T" "r.(?)" "p.(Ser957Phe)" "" "0000993742" "00006406" "30" "3403" "0" "3403" "0" "c.3403G>A" "r.(?)" "p.(Val1135Met)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 32 "{{screeningid}}" "{{variantid}}" "0000104343" "0000169023" "0000104344" "0000169024" "0000104345" "0000169025" "0000104346" "0000169026" "0000119541" "0000195646" "0000119542" "0000195647" "0000119543" "0000195648" "0000119544" "0000195649" "0000119545" "0000195650" "0000119546" "0000195651" "0000119547" "0000195652" "0000119548" "0000195653" "0000362963" "0000763353" "0000362964" "0000763354" "0000362965" "0000763355" "0000362966" "0000763356" "0000362967" "0000763357" "0000362968" "0000763358" "0000362969" "0000763359" "0000362970" "0000763360" "0000362978" "0000763368" "0000362979" "0000763369" "0000362980" "0000763370" "0000362981" "0000763371" "0000362982" "0000763372" "0000362983" "0000763373" "0000362984" "0000763374" "0000362985" "0000763375" "0000362986" "0000763376" "0000362987" "0000763377" "0000362988" "0000763378" "0000362989" "0000763379"