### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DHX37) # 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}}" "DHX37" "DEAH (Asp-Glu-Ala-His) box polypeptide 37" "12" "q24.31" "unknown" "NC_000012.11" "UD_132319692231" "" "https://www.LOVD.nl/DHX37" "" "1" "17210" "57647" "617362" "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/DHX37_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2023-10-13 09:53:11" "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}}" "00006412" "DHX37" "DEAH (Asp-Glu-Ala-His) box polypeptide 37" "001" "NM_032656.3" "" "NP_116045.2" "" "" "" "-99" "4452" "3474" "125473667" "125431370" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05340" "SRXY" "46,XY sex reversal (SRXY)" "" "" "" "" "" "00006" "2017-11-05 11:48:12" "" "" "06160" "SRXY11" "46, XY sex reversal 11" "AD" "273250" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06206" "NEDBAVC" "Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies" "AR" "618731" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DHX37" "06160" "DHX37" "06206" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00150200" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "26539891-FamBAB4019" "00150201" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Turkey" "" "0" "" "" "" "26539891-FamBAB4434" "00437163" "" "" "" "1" "" "00006" "{PMID:Kekou 2023:37754746}" "" "" "" "Greece" "" "0" "" "" "" "D724" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00150200" "00198" "00150201" "00198" "00437163" "05340" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 05340, 06160, 06206 ## Count = 4 "{{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}}" "0000122602" "00198" "00150200" "00006" "Unknown" "" "intellectual diability, severe microcephaly" "" "" "" "" "" "" "" "" "" "" "" "0000122603" "00198" "00150201" "00006" "Unknown" "" "intellectual diability, CCD, pachygyria" "" "" "" "" "" "" "" "" "" "" "" "0000327074" "05378" "00437163" "00006" "Unknown" "00y01m" "slightly elevated CK" "" "" "" "" "" "" "" "" "" "dystrophinopathy" "" "0000327675" "05340" "00437163" "00006" "Unknown" "" "ambiguous genitalia, 46,XY sex reversal" "" "" "" "" "" "" "" "" "SRXY11" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151055" "00150200" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000151056" "00150201" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" "0000438647" "00437163" "1" "00006" "00006" "2023-10-13 09:23:56" "" "" "MLPA" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000151055" "DHX37" "0000151056" "DHX37" "0000438647" "DMD" ## 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 = 57 "{{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}}" "0000244221" "3" "90" "12" "125451713" "125451713" "subst" "3.25993E-5" "00006" "DHX37_000001" "g.125451713C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_032656: c.G1460A; p.R487H" "" "Germline" "" "" "0" "" "" "g.124967167C>T" "" "pathogenic" "" "0000244222" "3" "90" "12" "125453449" "125453449" "subst" "0" "00006" "DHX37_000002" "g.125453449G>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_032656: c.C1257A; p.N419K" "" "Germline" "" "" "0" "" "" "g.124968903G>T" "" "pathogenic" "" "0000274993" "0" "30" "12" "125461977" "125461977" "subst" "2.876E-5" "01943" "DHX37_000007" "g.125461977G>A" "" "" "" "DHX37(NM_032656.4):c.798C>T (p.A266=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124977431G>A" "" "likely benign" "" "0000274994" "0" "30" "12" "125461964" "125461964" "subst" "2.46154E-5" "01943" "DHX37_000006" "g.125461964C>T" "" "" "" "DHX37(NM_032656.3):c.811G>A (p.(Val271Ile)), DHX37(NM_032656.4):c.811G>A (p.V271I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124977418C>T" "" "likely benign" "" "0000274995" "0" "50" "12" "125460011" "125460011" "subst" "9.41612E-5" "01943" "DHX37_000004" "g.125460011C>T" "" "" "" "DHX37(NM_032656.4):c.934G>A (p.V312M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124975465C>T" "" "VUS" "" "0000323216" "0" "50" "12" "125448961" "125448961" "subst" "0.000353638" "01804" "DHX37_000003" "g.125448961G>A" "" "" "" "DHX37(NM_032656.4):c.2024C>T (p.(Thr675Met), p.T675M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124964415G>A" "" "VUS" "" "0000323217" "0" "50" "12" "125460041" "125460041" "subst" "3.68261E-5" "01804" "DHX37_000005" "g.125460041C>T" "" "" "" "DHX37(NM_032656.3):c.904G>A (p.(Gly302Ser)), DHX37(NM_032656.4):c.904G>A (p.G302S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124975495C>T" "" "VUS" "" "0000323218" "0" "50" "12" "125478402" "125478410" "dup" "0" "01804" "BRI3BP_000001" "g.125478402_125478410dup" "" "" "" "BRI3BP(NM_080626.5):c.45_46insCTGCTGCTG (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124993856_124993864dup" "" "VUS" "" "0000323219" "0" "50" "12" "125478405" "125478410" "dup" "0" "01804" "BRI3BP_000002" "g.125478405_125478410dup" "" "" "" "BRI3BP(NM_080626.5):c.45_46insCTGCTG (p.(Leu15_Leu16insLeuLeu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124993859_124993864dup" "" "VUS" "" "0000342618" "0" "50" "12" "125459996" "125459996" "subst" "0" "02327" "DHX37_000008" "g.125459996G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.124975450G>A" "" "VUS" "" "0000547092" "0" "50" "12" "125434995" "125434995" "subst" "1.77751E-5" "01943" "DHX37_000009" "g.125434995G>A" "" "" "" "DHX37(NM_032656.4):c.3085C>T (p.R1029W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124950449G>A" "" "VUS" "" "0000547093" "0" "50" "12" "125436943" "125436943" "subst" "0" "02327" "DHX37_000010" "g.125436943C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124952397C>T" "" "VUS" "" "0000547094" "0" "30" "12" "125451413" "125451413" "subst" "8.12909E-5" "01943" "DHX37_000011" "g.125451413C>T" "" "" "" "DHX37(NM_032656.4):c.1516G>A (p.D506N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124966867C>T" "" "likely benign" "" "0000613952" "0" "30" "12" "125455884" "125455884" "subst" "3.25505E-5" "01943" "DHX37_000012" "g.125455884G>A" "" "" "" "DHX37(NM_032656.4):c.1155C>T (p.I385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.124971338G>A" "" "likely benign" "" "0000679434" "0" "30" "12" "125460048" "125460048" "subst" "2.04772E-5" "01943" "DHX37_000013" "g.125460048G>A" "" "" "" "DHX37(NM_032656.4):c.897C>T (p.S299=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723914" "0" "30" "12" "125434988" "125434988" "subst" "0.00233469" "01943" "DHX37_000014" "g.125434988C>T" "" "" "" "DHX37(NM_032656.4):c.3092G>A (p.R1031Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723915" "0" "30" "12" "125453114" "125453114" "subst" "4.06646E-5" "01943" "DHX37_000015" "g.125453114C>T" "" "" "" "DHX37(NM_032656.4):c.1374G>A (p.R458=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723916" "0" "30" "12" "125467107" "125467107" "subst" "0.000109637" "01943" "DHX37_000016" "g.125467107A>G" "" "" "" "DHX37(NM_032656.4):c.339T>C (p.F113=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723917" "0" "30" "12" "125473499" "125473499" "subst" "0" "01943" "BRI3BP_000010" "g.125473499G>A" "" "" "" "DHX37(NM_032656.4):c.70C>T (p.P24S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805609" "0" "30" "12" "125470777" "125470777" "subst" "0.00016653" "01943" "DHX37_000017" "g.125470777G>A" "" "" "" "DHX37(NM_032656.4):c.141C>T (p.N47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853317" "0" "50" "12" "125435287" "125435287" "subst" "3.30691E-5" "01943" "DHX37_000018" "g.125435287C>T" "" "" "" "DHX37(NM_032656.3):c.2932G>A (p.(Glu978Lys)), DHX37(NM_032656.4):c.2932G>A (p.E978K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862903" "0" "30" "12" "125449509" "125449509" "subst" "3.67887E-5" "01943" "DHX37_000019" "g.125449509C>T" "" "" "" "DHX37(NM_032656.4):c.1779G>A (p.L593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890404" "0" "30" "12" "125434988" "125434988" "subst" "0.00233469" "02325" "DHX37_000014" "g.125434988C>T" "" "" "" "DHX37(NM_032656.4):c.3092G>A (p.R1031Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925585" "0" "50" "12" "125437027" "125437027" "subst" "0" "02325" "DHX37_000020" "g.125437027C>T" "" "" "" "DHX37(NM_032656.4):c.2785G>A (p.V929M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930046" "0" "50" "12" "125449106" "125449106" "subst" "0" "02327" "DHX37_000021" "g.125449106G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000934951" "0" "90" "12" "125460023" "125460023" "subst" "0" "00006" "DHX37_000022" "g.125460023G>C" "" "{PMID:Kekou 2023:37754746}" "" "Arg308Gln" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.124975477G>C" "" "pathogenic" "" "0000949889" "0" "50" "12" "125432717" "125432717" "subst" "3.25836E-5" "02325" "DHX37_000023" "g.125432717G>A" "" "" "" "DHX37(NM_032656.4):c.3301C>T (p.R1101C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949890" "0" "90" "12" "125460022" "125460022" "subst" "0" "02326" "DHX37_000024" "g.125460022C>T" "" "" "" "DHX37(NM_032656.4):c.923G>A (p.R308Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980118" "0" "30" "12" "125434692" "125434692" "subst" "0.000195024" "01804" "DHX37_000025" "g.125434692T>C" "" "" "" "DHX37(NM_032656.4):c.3216+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980119" "0" "50" "12" "125435019" "125435019" "subst" "3.18185E-5" "01804" "DHX37_000026" "g.125435019G>T" "" "" "" "DHX37(NM_032656.4):c.3061C>A (p.(Pro1021Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980120" "0" "50" "12" "125453095" "125453095" "subst" "6.92837E-5" "01804" "DHX37_000027" "g.125453095G>A" "" "" "" "DHX37(NM_032656.4):c.1393C>T (p.(Arg465Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980121" "0" "50" "12" "125455843" "125455843" "subst" "2.4571E-5" "01804" "DHX37_000028" "g.125455843G>A" "" "" "" "DHX37(NM_032656.4):c.1191+5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980122" "0" "50" "12" "125470692" "125470694" "del" "0" "01804" "DHX37_000029" "g.125470692_125470694del" "" "" "" "DHX37(NM_032656.4):c.226_228del (p.(Glu76del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980123" "0" "10" "12" "125473456" "125473457" "del" "0" "01804" "BRI3BP_000011" "g.125473456_125473457del" "" "" "" "DHX37(NM_032656.4):c.106+7_106+8del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000987790" "0" "30" "12" "125450318" "125450318" "subst" "0.000182983" "03779" "DHX37_000030" "g.125450318G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs148596974" "0" "" "" "" "" "likely benign" "" "0000999810" "0" "30" "12" "125434994" "125434994" "subst" "1.77626E-5" "01804" "DHX37_000031" "g.125434994C>T" "" "" "" "DHX37(NM_032656.3):c.3086G>A (p.(Arg1029Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999811" "0" "50" "12" "125435287" "125435287" "subst" "3.30691E-5" "01804" "DHX37_000018" "g.125435287C>T" "" "" "" "DHX37(NM_032656.3):c.2932G>A (p.(Glu978Lys)), DHX37(NM_032656.4):c.2932G>A (p.E978K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999812" "0" "30" "12" "125438422" "125438422" "subst" "0" "02325" "DHX37_000032" "g.125438422G>A" "" "" "" "DHX37(NM_032656.4):c.2695+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999813" "0" "70" "12" "125449517" "125449517" "subst" "1.37625E-5" "01804" "DHX37_000033" "g.125449517G>A" "" "" "" "DHX37(NM_032656.3):c.1771C>T (p.(Leu591Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999814" "0" "30" "12" "125449538" "125449538" "subst" "0" "01804" "DHX37_000034" "g.125449538C>T" "" "" "" "DHX37(NM_032656.3):c.1750G>A (p.(Ala584Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999815" "0" "50" "12" "125460041" "125460041" "subst" "3.68261E-5" "02325" "DHX37_000005" "g.125460041C>T" "" "" "" "DHX37(NM_032656.3):c.904G>A (p.(Gly302Ser)), DHX37(NM_032656.4):c.904G>A (p.G302S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999816" "0" "50" "12" "125461947" "125461947" "subst" "0" "01804" "DHX37_000035" "g.125461947C>G" "" "" "" "DHX37(NM_032656.3):c.828G>C (p.(Glu276Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999817" "0" "30" "12" "125461964" "125461964" "subst" "2.46154E-5" "01804" "DHX37_000006" "g.125461964C>T" "" "" "" "DHX37(NM_032656.3):c.811G>A (p.(Val271Ile)), DHX37(NM_032656.4):c.811G>A (p.V271I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999818" "0" "50" "12" "125465146" "125465146" "subst" "0.000357901" "01804" "DHX37_000036" "g.125465146C>T" "" "" "" "DHX37(NM_032656.3):c.628G>A (p.(Val210Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999819" "0" "30" "12" "125470638" "125470638" "subst" "0.000402207" "02325" "DHX37_000037" "g.125470638G>A" "" "" "" "DHX37(NM_032656.4):c.276+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014937" "0" "50" "12" "125455897" "125455897" "subst" "2.03404E-5" "02325" "DHX37_000038" "g.125455897G>A" "" "" "" "DHX37(NM_032656.4):c.1142C>T (p.T381M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014938" "0" "50" "12" "125457077" "125457077" "subst" "0" "02327" "DHX37_000039" "g.125457077T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039064" "0" "30" "12" "125432440" "125432440" "subst" "0" "01804" "DHX37_000040" "g.125432440G>C" "" "" "" "DHX37(NM_032656.4):c.3389-7C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039065" "0" "30" "12" "125465032" "125465032" "subst" "0.0394978" "01804" "DHX37_000041" "g.125465032G>A" "" "" "" "DHX37(NM_032656.4):c.738+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001039066" "0" "50" "12" "125465291" "125465296" "del" "0" "01804" "DHX37_000042" "g.125465291_125465296del" "" "" "" "DHX37(NM_032656.4):c.499_504del (p.(Glu167_Glu168del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039067" "0" "50" "12" "125470762" "125470762" "subst" "2.03039E-5" "01804" "DHX37_000043" "g.125470762C>T" "" "" "" "DHX37(NM_032656.4):c.156G>A (p.(Pro52=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046357" "0" "50" "12" "125432382" "125432382" "subst" "0.00187775" "02325" "DHX37_000044" "g.125432382A>G" "" "" "" "DHX37(NM_032656.4):c.3440T>C (p.I1147T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046358" "0" "50" "12" "125432386" "125432386" "subst" "2.96294E-5" "02325" "DHX37_000045" "g.125432386C>T" "" "" "" "DHX37(NM_032656.4):c.3436G>A (p.D1146N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046359" "0" "50" "12" "125448961" "125448961" "subst" "0.000353638" "02325" "DHX37_000003" "g.125448961G>A" "" "" "" "DHX37(NM_032656.4):c.2024C>T (p.(Thr675Met), p.T675M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054556" "0" "50" "12" "125434786" "125434786" "subst" "0.000150918" "01804" "DHX37_000046" "g.125434786C>T" "" "" "" "DHX37(NM_032656.4):c.3125G>A (p.(Arg1042His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065870" "0" "30" "12" "125434692" "125434692" "subst" "0.000195024" "02325" "DHX37_000025" "g.125434692T>C" "" "" "" "DHX37(NM_032656.4):c.3216+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001065871" "0" "50" "12" "125449151" "125449151" "subst" "0" "02325" "DHX37_000047" "g.125449151C>T" "" "" "" "" "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 DHX37 ## Count = 57 "{{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}}" "0000244221" "00006412" "90" "1460" "0" "1460" "0" "c.1460G>A" "r.(?)" "p.(Arg487His)" "" "0000244222" "00006412" "90" "1257" "0" "1257" "0" "c.1257C>A" "r.(?)" "p.(Asn419Lys)" "" "0000274993" "00006412" "30" "798" "0" "798" "0" "c.798C>T" "r.(?)" "p.(Ala266=)" "" "0000274994" "00006412" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Ile)" "" "0000274995" "00006412" "50" "934" "0" "934" "0" "c.934G>A" "r.(?)" "p.(Val312Met)" "" "0000323216" "00006412" "50" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Thr675Met)" "" "0000323217" "00006412" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" "" "0000323218" "00006412" "50" "-4822" "0" "-4814" "0" "c.-4822_-4814dup" "r.(?)" "p.(=)" "" "0000323219" "00006412" "50" "-4819" "0" "-4814" "0" "c.-4819_-4814dup" "r.(?)" "p.(=)" "" "0000342618" "00006412" "50" "949" "0" "949" "0" "c.949C>T" "r.(?)" "p.(Arg317Ter)" "" "0000547092" "00006412" "50" "3085" "0" "3085" "0" "c.3085C>T" "r.(?)" "p.(Arg1029Trp)" "" "0000547093" "00006412" "50" "2868" "1" "2868" "1" "c.2868+1G>A" "r.spl?" "p.?" "" "0000547094" "00006412" "30" "1516" "0" "1516" "0" "c.1516G>A" "r.(?)" "p.(Asp506Asn)" "" "0000613952" "00006412" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Ile385=)" "" "0000679434" "00006412" "30" "897" "0" "897" "0" "c.897C>T" "r.(?)" "p.(Ser299=)" "" "0000723914" "00006412" "30" "3092" "0" "3092" "0" "c.3092G>A" "r.(?)" "p.(Arg1031Gln)" "" "0000723915" "00006412" "30" "1374" "0" "1374" "0" "c.1374G>A" "r.(?)" "p.(Arg458=)" "" "0000723916" "00006412" "30" "339" "0" "339" "0" "c.339T>C" "r.(?)" "p.(Phe113=)" "" "0000723917" "00006412" "30" "70" "0" "70" "0" "c.70C>T" "r.(?)" "p.(Pro24Ser)" "" "0000805609" "00006412" "30" "141" "0" "141" "0" "c.141C>T" "r.(?)" "p.(Asn47=)" "" "0000853317" "00006412" "50" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Glu978Lys)" "" "0000862903" "00006412" "30" "1779" "0" "1779" "0" "c.1779G>A" "r.(?)" "p.(Leu593=)" "" "0000890404" "00006412" "30" "3092" "0" "3092" "0" "c.3092G>A" "r.(?)" "p.(Arg1031Gln)" "" "0000925585" "00006412" "50" "2785" "0" "2785" "0" "c.2785G>A" "r.(?)" "p.(Val929Met)" "" "0000930046" "00006412" "50" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Leu627Phe)" "" "0000934951" "00006412" "90" "922" "0" "922" "0" "c.922C>G" "r.(?)" "p.(Arg308Gly)" "" "0000949889" "00006412" "50" "3301" "0" "3301" "0" "c.3301C>T" "r.(?)" "p.(Arg1101Cys)" "" "0000949890" "00006412" "90" "923" "0" "923" "0" "c.923G>A" "r.(?)" "p.(Arg308Gln)" "" "0000980118" "00006412" "30" "3216" "3" "3216" "3" "c.3216+3A>G" "r.spl?" "p.?" "" "0000980119" "00006412" "50" "3061" "0" "3061" "0" "c.3061C>A" "r.(?)" "p.(Pro1021Thr)" "" "0000980120" "00006412" "50" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Arg465Trp)" "" "0000980121" "00006412" "50" "1191" "5" "1191" "5" "c.1191+5C>T" "r.spl?" "p.?" "" "0000980122" "00006412" "50" "226" "0" "228" "0" "c.226_228del" "r.(?)" "p.(Glu76del)" "" "0000980123" "00006412" "10" "106" "7" "106" "8" "c.106+7_106+8del" "r.(=)" "p.(=)" "" "0000987790" "00006412" "30" "1631" "0" "1631" "0" "c.1631C>T" "r.(?)" "p.(Pro544Leu)" "" "0000999810" "00006412" "30" "3086" "0" "3086" "0" "c.3086G>A" "r.(?)" "p.(Arg1029Gln)" "" "0000999811" "00006412" "50" "2932" "0" "2932" "0" "c.2932G>A" "r.(?)" "p.(Glu978Lys)" "" "0000999812" "00006412" "30" "2695" "4" "2695" "4" "c.2695+4C>T" "r.spl?" "p.?" "" "0000999813" "00006412" "70" "1771" "0" "1771" "0" "c.1771C>T" "r.(?)" "p.(Leu591Phe)" "" "0000999814" "00006412" "30" "1750" "0" "1750" "0" "c.1750G>A" "r.(?)" "p.(Ala584Thr)" "" "0000999815" "00006412" "50" "904" "0" "904" "0" "c.904G>A" "r.(?)" "p.(Gly302Ser)" "" "0000999816" "00006412" "50" "828" "0" "828" "0" "c.828G>C" "r.(?)" "p.(Glu276Asp)" "" "0000999817" "00006412" "30" "811" "0" "811" "0" "c.811G>A" "r.(?)" "p.(Val271Ile)" "" "0000999818" "00006412" "50" "628" "0" "628" "0" "c.628G>A" "r.(?)" "p.(Val210Met)" "" "0000999819" "00006412" "30" "276" "4" "276" "4" "c.276+4C>T" "r.spl?" "p.?" "" "0001014937" "00006412" "50" "1142" "0" "1142" "0" "c.1142C>T" "r.(?)" "p.(Thr381Met)" "" "0001014938" "00006412" "50" "1049" "0" "1049" "0" "c.1049A>T" "r.(?)" "p.(Asp350Val)" "" "0001039064" "00006412" "30" "3389" "-7" "3389" "-7" "c.3389-7C>G" "r.(=)" "p.(=)" "" "0001039065" "00006412" "30" "738" "4" "738" "4" "c.738+4C>T" "r.spl?" "p.?" "" "0001039066" "00006412" "50" "499" "0" "504" "0" "c.499_504del" "r.(?)" "p.(Glu167_Glu168del)" "" "0001039067" "00006412" "50" "156" "0" "156" "0" "c.156G>A" "r.(?)" "p.(=)" "" "0001046357" "00006412" "50" "3440" "0" "3440" "0" "c.3440T>C" "r.(?)" "p.(Ile1147Thr)" "" "0001046358" "00006412" "50" "3436" "0" "3436" "0" "c.3436G>A" "r.(?)" "p.(Asp1146Asn)" "" "0001046359" "00006412" "50" "2024" "0" "2024" "0" "c.2024C>T" "r.(?)" "p.(Thr675Met)" "" "0001054556" "00006412" "50" "3125" "0" "3125" "0" "c.3125G>A" "r.(?)" "p.(Arg1042His)" "" "0001065870" "00006412" "30" "3216" "3" "3216" "3" "c.3216+3A>G" "r.spl?" "p.?" "" "0001065871" "00006412" "50" "1834" "0" "1834" "0" "c.1834G>A" "r.(?)" "p.(Gly612Arg)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{variantid}}" "0000151055" "0000244221" "0000151056" "0000244222" "0000438647" "0000934951"