### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNHD1) # 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}}" "DNHD1" "dynein heavy chain domain 1" "11" "p15.4" "unknown" "NC_000011.9" "UD_132319422966" "" "https://www.LOVD.nl/DNHD1" "" "1" "26532" "144132" "617277" "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/DNHD1_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2021-12-27 22:00:42" "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}}" "00000757" "DNHD1" "transcript variant 1" "001" "NM_144666.2" "" "NP_653267.2" "" "" "" "-564" "14301" "14262" "6518526" "6593255" "00000" "2012-09-13 12:51:32" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06915" "SPGF65" "spermatogenic failure, type 65" "AR" "619712" "" "" "" "00006" "2022-04-09 21:18:50" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNHD1" "00201" "DNHD1" "06915" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" "" "00050240" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "proband" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00181147" "" "" "" "1" "" "02575" "" "" "F" "" "" "" "0" "" "" "" "" "00361542" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "familial" "M" "yes" "Saudi Arabia" "" "0" "" "" "" "16DG0296" "00397667" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam1" "00397668" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "Fam2" "00397669" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam3" "00397670" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam4" "00397671" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "yes" "China" "" "0" "" "" "" "Fam5" "00397672" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam6" "00397673" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam7" "00397674" "" "" "" "1" "" "00006" "{PMID:Tan 2022:34932939}" "2-generation family, 1 affected (married, no children), unaffected heterozygous carrier parents" "M" "no" "China" "" "0" "" "" "" "Fam8" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00050240" "00198" "00181147" "00198" "00361542" "00139" "00397667" "00201" "00397668" "00201" "00397669" "00201" "00397670" "00201" "00397671" "00201" "00397672" "00201" "00397673" "00201" "00397674" "00201" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00201, 01157, 06915 ## Count = 13 "{{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}}" "0000036852" "00198" "00050240" "00006" "Unknown" "" "severe undiagnosed developmental disorders" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" "" "0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" "" "0000143369" "00198" "00181147" "02575" "Familial, autosomal recessive" "" "Hypoplastic left heart (HP:0004383), persisting left cardinal and vena cava with estuary in the left atrium, Atrial septal defect (HP:0001631), Abnormal lung lobation (HP:0002101), Extrahepatic bile duct aplasia, Intestinal stenosis (HP:0012848)" "" "" "" "" "" "" "" "" "" "" "" "0000256947" "00139" "00361542" "00006" "Familial, autosomal recessive" "1y2m" "not syndromic; global developmental delay, cerebellar dysgenesis" "" "" "" "" "" "" "" "" "" "intellectual disability" "" "0000290793" "00201" "00397667" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290794" "00201" "00397668" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290795" "00201" "00397669" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290796" "00201" "00397670" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290797" "00201" "00397671" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290798" "00201" "00397672" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290799" "00201" "00397673" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" "0000290800" "00201" "00397674" "00006" "Familial, autosomal recessive" "" "see paper; asthenoteratozoospermia, ..." "" "" "" "" "" "" "" "" "" "male infertility" "" ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" "" "0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" "" "0000050185" "00050240" "1" "00006" "00006" "2015-09-27 13:26:52" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000182105" "00181147" "1" "02575" "02575" "2018-10-01 20:14:16" "" "" "SEQ-NG" "DNA" "" "" "0000362770" "00361542" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES" "0000398905" "00397667" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398906" "00397668" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398907" "00397669" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398908" "00397670" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398909" "00397671" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398910" "00397672" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398911" "00397673" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000398912" "00397674" "1" "00006" "00006" "2021-12-27 22:30:47" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000050185" "DNHD1" "0000182105" "DNHD1" "0000362770" "DNHD1" ## 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 = 106 "{{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}}" "0000004965" "3" "50" "11" "6573784" "6573784" "subst" "0" "00037" "DNHD1_000001" "g.6573784T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6552554T>C" "" "VUS" "" "0000004966" "3" "50" "11" "6573900" "6573900" "subst" "0" "00037" "DNHD1_000002" "g.6573900A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6552670A>G" "" "VUS" "" "0000012922" "3" "50" "11" "6573900" "6573900" "subst" "0" "00037" "DNHD1_000002" "g.6573900A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.6552670A>G" "" "VUS" "" "0000079137" "3" "90" "11" "6520192" "6520192" "subst" "8.7899E-6" "00006" "DNHD1_000003" "g.6520192G>T" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "association variant/phenotype uncertain" "Germline" "" "" "0" "" "" "g.6498962G>T" "" "pathogenic" "" "0000255910" "0" "50" "11" "6566936" "6566936" "subst" "6.63359E-6" "01943" "DNHD1_000007" "g.6566936A>C" "" "" "" "DNHD1(NM_144666.2):c.4767A>C (p.E1589D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6545706A>C" "" "VUS" "" "0000256682" "0" "50" "11" "6549941" "6549941" "subst" "1.34575E-5" "01943" "DNHD1_000004" "g.6549941A>G" "" "" "" "DNHD1(NM_144666.2):c.2027A>G (p.Y676C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6528711A>G" "" "VUS" "" "0000275412" "0" "50" "11" "6588633" "6588633" "subst" "0" "01943" "DNHD1_000013" "g.6588633C>T" "" "" "" "DNHD1(NM_144666.2):c.11894C>T (p.P3965L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6567403C>T" "" "VUS" "" "0000275413" "0" "30" "11" "6591260" "6591260" "subst" "0.00108049" "01943" "DNHD1_000014" "g.6591260G>A" "" "" "" "DNHD1(NM_144666.2):c.12885G>A (p.Q4295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6570030G>A" "" "likely benign" "" "0000275414" "0" "50" "11" "6560038" "6560038" "subst" "0.000265318" "01943" "DNHD1_000005" "g.6560038G>A" "" "" "" "DNHD1(NM_144666.2):c.3323G>A (p.R1108H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6538808G>A" "" "VUS" "" "0000275415" "0" "30" "11" "6561177" "6561177" "subst" "6.72414E-6" "01943" "DNHD1_000006" "g.6561177G>A" "" "" "" "DNHD1(NM_144666.2):c.3492G>A (p.A1164=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6539947G>A" "" "likely benign" "" "0000275416" "0" "50" "11" "6567845" "6567845" "subst" "0" "01943" "DNHD1_000008" "g.6567845G>C" "" "" "" "DNHD1(NM_144666.2):c.5676G>C (p.K1892N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6546615G>C" "" "VUS" "" "0000275417" "0" "50" "11" "6568564" "6568564" "subst" "0.000415869" "01943" "DNHD1_000009" "g.6568564C>T" "" "" "" "DNHD1(NM_144666.2):c.6395C>T (p.T2132I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6547334C>T" "" "VUS" "" "0000275418" "0" "50" "11" "6568785" "6568785" "subst" "0.000632633" "01943" "DNHD1_000010" "g.6568785G>A" "" "" "" "DNHD1(NM_144666.2):c.6616G>A (p.G2206R, p.(Gly2206Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6547555G>A" "" "VUS" "" "0000275419" "0" "50" "11" "6584666" "6584666" "subst" "0.00020171" "01943" "DNHD1_000011" "g.6584666G>C" "" "" "" "DNHD1(NM_144666.2):c.9724G>C (p.E3242Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6563436G>C" "" "VUS" "" "0000275420" "0" "50" "11" "6584682" "6584682" "subst" "0.00012101" "01943" "DNHD1_000012" "g.6584682G>C" "" "" "" "DNHD1(NM_144666.2):c.9740G>C (p.R3247P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.6563452G>C" "" "VUS" "" "0000405930" "3" "50" "11" "6568278" "6568278" "subst" "0.00490968" "02575" "DNHD1_000017" "g.6568278A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.6547048A>G" "" "VUS" "" "0000544963" "0" "30" "11" "6518570" "6518570" "subst" "0" "01943" "DNHD1_000018" "g.6518570T>C" "" "" "" "DNHD1(NM_144666.2):c.-529+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6497340T>C" "" "likely benign" "" "0000544964" "0" "30" "11" "6519530" "6519530" "subst" "0.000235655" "01943" "DNHD1_000019" "g.6519530T>C" "" "" "" "DNHD1(NM_144666.2):c.85T>C (p.L29=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6498300T>C" "" "likely benign" "" "0000544965" "0" "10" "11" "6524126" "6524126" "subst" "0.00180333" "01943" "DNHD1_000020" "g.6524126A>G" "" "" "" "DNHD1(NM_144666.2):c.890A>G (p.Y297C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6502896A>G" "" "benign" "" "0000545016" "0" "30" "11" "6554303" "6554303" "subst" "0.000396954" "01943" "DNHD1_000021" "g.6554303A>G" "" "" "" "DNHD1(NM_144666.2):c.2394A>G (p.Q798=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6533073A>G" "" "likely benign" "" "0000545017" "0" "50" "11" "6554950" "6554950" "subst" "0" "01804" "DNHD1_000022" "g.6554950C>T" "" "" "" "DNHD1(NM_144666.2):c.2545C>T (p.(Arg849Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6533720C>T" "" "VUS" "" "0000545018" "0" "50" "11" "6554986" "6554986" "subst" "0.000430686" "01943" "DNHD1_000023" "g.6554986C>T" "" "" "" "DNHD1(NM_144666.2):c.2581C>T (p.R861C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6533756C>T" "" "VUS" "" "0000545019" "0" "30" "11" "6561219" "6561219" "subst" "0.000423603" "01943" "DNHD1_000024" "g.6561219C>T" "" "" "" "DNHD1(NM_144666.2):c.3534C>T (p.Y1178=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6539989C>T" "" "likely benign" "" "0000545036" "0" "30" "11" "6566823" "6566823" "subst" "0.000598298" "01943" "DNHD1_000026" "g.6566823G>T" "" "" "" "DNHD1(NM_144666.2):c.4654G>T (p.A1552S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6545593G>T" "" "likely benign" "" "0000545038" "0" "30" "11" "6568785" "6568785" "subst" "0.000632633" "01804" "DNHD1_000010" "g.6568785G>A" "" "" "" "DNHD1(NM_144666.2):c.6616G>A (p.G2206R, p.(Gly2206Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6547555G>A" "" "likely benign" "" "0000545039" "0" "50" "11" "6568786" "6568786" "subst" "0.000579367" "01943" "DNHD1_000027" "g.6568786G>A" "" "" "" "DNHD1(NM_144666.2):c.6617G>A (p.G2206E, p.(Gly2206Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6547556G>A" "" "VUS" "" "0000545040" "0" "30" "11" "6568786" "6568786" "subst" "0.000579367" "01804" "DNHD1_000027" "g.6568786G>A" "" "" "" "DNHD1(NM_144666.2):c.6617G>A (p.G2206E, p.(Gly2206Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6547556G>A" "" "likely benign" "" "0000545041" "0" "30" "11" "6568787" "6568787" "subst" "0.00057299" "01804" "DNHD1_000028" "g.6568787G>A" "" "" "" "DNHD1(NM_144666.2):c.6618G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6547557G>A" "" "likely benign" "" "0000545042" "0" "10" "11" "6568866" "6568866" "subst" "0.00623913" "01804" "DNHD1_000029" "g.6568866C>T" "" "" "" "DNHD1(NM_144666.2):c.6697C>T (p.(Arg2233Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6547636C>T" "" "benign" "" "0000545043" "0" "30" "11" "6569505" "6569505" "subst" "0" "01943" "DNHD1_000030" "g.6569505C>T" "" "" "" "DNHD1(NM_144666.2):c.6971C>T (p.P2324L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6548275C>T" "" "likely benign" "" "0000545044" "0" "50" "11" "6570148" "6570148" "subst" "0.000627556" "01943" "DNHD1_000031" "g.6570148C>T" "" "" "" "DNHD1(NM_144666.2):c.7372C>T (p.H2458Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6548918C>T" "" "VUS" "" "0000545045" "0" "70" "11" "6578343" "6578343" "subst" "0.000719386" "01804" "DNHD1_000032" "g.6578343C>T" "" "" "" "DNHD1(NM_144666.2):c.7818C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6557113C>T" "" "likely pathogenic" "" "0000545047" "0" "30" "11" "6578844" "6578844" "subst" "0" "01943" "DNHD1_000033" "g.6578844C>G" "" "" "" "DNHD1(NM_144666.2):c.8319C>G (p.G2773=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6557614C>G" "" "likely benign" "" "0000545049" "0" "50" "11" "6579307" "6579307" "subst" "0.000995159" "01943" "DNHD1_000034" "g.6579307C>T" "" "" "" "DNHD1(NM_144666.2):c.8782C>T (p.R2928*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6558077C>T" "" "VUS" "" "0000545055" "0" "50" "11" "6585331" "6585331" "subst" "2.08397E-5" "01943" "DNHD1_000035" "g.6585331C>T" "" "" "" "DNHD1(NM_144666.2):c.10261C>T (p.R3421C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6564101C>T" "" "VUS" "" "0000545056" "0" "50" "11" "6589289" "6589289" "subst" "0" "01943" "DNHD1_000036" "g.6589289C>T" "" "" "" "DNHD1(NM_144666.2):c.12355C>T (p.Q4119*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6568059C>T" "" "VUS" "" "0000545057" "0" "50" "11" "6589425" "6589425" "subst" "0.00151692" "01943" "DNHD1_000037" "g.6589425C>T" "" "" "" "DNHD1(NM_144666.2):c.12491C>T (p.P4164L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6568195C>T" "" "VUS" "" "0000545058" "0" "50" "11" "6589683" "6589683" "subst" "0.000252293" "01804" "DNHD1_000038" "g.6589683G>A" "" "" "" "DNHD1(NM_144666.2):c.12539-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6568453G>A" "" "VUS" "" "0000545059" "0" "50" "11" "6592353" "6592353" "subst" "0" "01804" "DNHD1_000039" "g.6592353G>A" "" "" "" "DNHD1(NM_144666.2):c.13611G>A (p.(Trp4537Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6571123G>A" "" "VUS" "" "0000545060" "0" "30" "11" "6592645" "6592645" "subst" "1.72236E-5" "01943" "DNHD1_000040" "g.6592645C>T" "" "" "" "DNHD1(NM_144666.2):c.13903C>T (p.H4635Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6571415C>T" "" "likely benign" "" "0000613545" "0" "30" "11" "6519925" "6519925" "subst" "0" "01943" "DNHD1_000041" "g.6519925C>T" "" "" "" "DNHD1(NM_144666.2):c.480C>T (p.P160=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6498695C>T" "" "likely benign" "" "0000613560" "0" "30" "11" "6549852" "6549852" "subst" "0.00021523" "01943" "DNHD1_000042" "g.6549852A>T" "" "" "" "DNHD1(NM_144666.2):c.1938A>T (p.G646=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6528622A>T" "" "likely benign" "" "0000613561" "0" "10" "11" "6554966" "6554966" "subst" "0.00145694" "01943" "DNHD1_000043" "g.6554966G>A" "" "" "" "DNHD1(NM_144666.2):c.2561G>A (p.R854Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6533736G>A" "" "benign" "" "0000613574" "0" "30" "11" "6579429" "6579429" "subst" "8.12348E-5" "01943" "DNHD1_000045" "g.6579429C>A" "" "" "" "DNHD1(NM_144666.2):c.8904C>A (p.G2968=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6558199C>A" "" "likely benign" "" "0000613576" "0" "50" "11" "6587815" "6587815" "subst" "2.44523E-5" "01943" "DNHD1_000046" "g.6587815A>G" "" "" "" "DNHD1(NM_144666.2):c.11207-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6566585A>G" "" "VUS" "" "0000656855" "0" "50" "11" "6561208" "6561208" "dup" "1.34475E-5" "01943" "DNHD1_000047" "g.6561208dup" "" "" "" "DNHD1(NM_144666.2):c.3523dupC (p.H1175Pfs*29)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6539978dup" "" "VUS" "" "0000656861" "0" "10" "11" "6567433" "6567433" "subst" "0.00208204" "01943" "DNHD1_000048" "g.6567433G>A" "" "" "" "DNHD1(NM_144666.2):c.5264G>A (p.R1755H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6546203G>A" "" "benign" "" "0000656862" "0" "50" "11" "6578413" "6578413" "subst" "6.72504E-6" "01943" "DNHD1_000049" "g.6578413C>T" "" "" "" "DNHD1(NM_144666.2):c.7888C>T (p.R2630*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.6557183C>T" "" "VUS" "" "0000679262" "0" "50" "11" "6524134" "6524134" "subst" "0.00323847" "01943" "DNHD1_000050" "g.6524134G>A" "" "" "" "DNHD1(NM_144666.2):c.898G>A (p.V300M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679275" "0" "50" "11" "6591306" "6591306" "del" "0" "01943" "DNHD1_000051" "g.6591306del" "" "" "" "DNHD1(NM_144666.2):c.12931delC (p.R4311Vfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691129" "0" "50" "11" "6532612" "6532612" "subst" "2.03123E-5" "01943" "DNHD1_000052" "g.6532612C>T" "" "" "" "DNHD1(NM_144666.2):c.1345C>T (p.R449W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691130" "0" "50" "11" "6532615" "6532615" "subst" "0" "01943" "DNHD1_000053" "g.6532615C>T" "" "" "" "DNHD1(NM_144666.2):c.1348C>T (p.L450=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691131" "0" "30" "11" "6568008" "6568008" "subst" "0.000120026" "01943" "DNHD1_000054" "g.6568008A>G" "" "" "" "DNHD1(NM_144666.2):c.5839A>G (p.M1947V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691132" "0" "30" "11" "6588361" "6588361" "subst" "8.12757E-6" "01943" "DNHD1_000055" "g.6588361C>T" "" "" "" "DNHD1(NM_144666.2):c.11622C>T (p.F3874=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723579" "0" "50" "11" "6520001" "6520001" "subst" "4.47336E-5" "01943" "DNHD1_000056" "g.6520001C>T" "" "" "" "DNHD1(NM_144666.2):c.556C>T (p.R186*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723587" "0" "50" "11" "6532654" "6532654" "subst" "5.29083E-5" "01943" "DNHD1_000057" "g.6532654C>T" "" "" "" "DNHD1(NM_144666.2):c.1387C>T (p.R463*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723588" "0" "30" "11" "6549999" "6549999" "subst" "0" "01943" "DNHD1_000058" "g.6549999A>G" "" "" "" "DNHD1(NM_144666.2):c.2085A>G (p.I695M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723594" "0" "50" "11" "6585148" "6585148" "subst" "4.71539E-5" "01943" "DNHD1_000059" "g.6585148G>T" "" "" "" "DNHD1(NM_144666.2):c.10078G>T (p.E3360*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723595" "0" "50" "11" "6589961" "6589961" "subst" "0.000716105" "01943" "DNHD1_000060" "g.6589961T>C" "" "" "" "DNHD1(NM_144666.2):c.12728T>C (p.I4243T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000763144" "3" "90" "11" "6589086" "6589086" "dup" "0" "00006" "DNHD1_000016" "g.6589086dup" "" "{PMID:Anazi 2017:27431290}" "" "" "" "Germline" "" "" "0" "" "" "g.6567856dup" "" "pathogenic" "" "0000805267" "0" "50" "11" "6532559" "6532559" "subst" "0.000353345" "01943" "DNHD1_000061" "g.6532559A>G" "" "" "" "DNHD1(NM_144666.2):c.1292A>G (p.Y431C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805269" "0" "50" "11" "6541043" "6541048" "del" "0" "01943" "DNHD1_000062" "g.6541043_6541048del" "" "" "" "DNHD1(NM_144666.2):c.1606_1611delTTGGAA (p.L536_E537del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805274" "0" "50" "11" "6549817" "6549817" "subst" "4.71114E-5" "01943" "DNHD1_000063" "g.6549817G>A" "" "" "" "DNHD1(NM_144666.2):c.1903G>A (p.D635N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805275" "0" "50" "11" "6555244" "6555244" "subst" "0.00299922" "01943" "DNHD1_000064" "g.6555244G>T" "" "" "" "DNHD1(NM_144666.2):c.2839G>T (p.E947*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805276" "0" "30" "11" "6559948" "6559948" "subst" "8.9024E-5" "01943" "DNHD1_000065" "g.6559948G>A" "" "" "" "DNHD1(NM_144666.2):c.3233G>A (p.R1078H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805277" "0" "50" "11" "6560488" "6560488" "subst" "0.00011433" "01943" "DNHD1_000066" "g.6560488C>T" "" "" "" "DNHD1(NM_144666.2):c.3365C>T (p.T1122M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805278" "0" "30" "11" "6568850" "6568850" "subst" "0" "01943" "DNHD1_000067" "g.6568850G>C" "" "" "" "DNHD1(NM_144666.2):c.6681G>C (p.L2227=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805279" "0" "30" "11" "6578641" "6578641" "subst" "0.00414579" "01943" "DNHD1_000068" "g.6578641C>A" "" "" "" "DNHD1(NM_144666.2):c.8116C>A (p.P2706T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805280" "0" "30" "11" "6585982" "6585982" "subst" "0.000516899" "01943" "DNHD1_000069" "g.6585982G>A" "" "" "" "DNHD1(NM_144666.2):c.10704G>A (p.P3568=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805281" "0" "50" "11" "6586001" "6586001" "subst" "7.10924E-6" "01943" "DNHD1_000070" "g.6586001C>T" "" "" "" "DNHD1(NM_144666.2):c.10723C>T (p.R3575*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805282" "0" "30" "11" "6589917" "6589917" "subst" "0.000117857" "01943" "DNHD1_000071" "g.6589917G>A" "" "" "" "DNHD1(NM_144666.2):c.12684G>A (p.M4228I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805283" "0" "30" "11" "6592900" "6592900" "subst" "3.39934E-5" "01943" "DNHD1_000072" "g.6592900G>A" "" "" "" "DNHD1(NM_144666.2):c.13946G>A (p.R4649K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000831200" "11" "90" "11" "6567729" "6567729" "subst" "6.65947E-6" "00006" "DNHD1_000079" "g.6567729C>T" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6546499C>T" "" "pathogenic (recessive)" "" "0000831201" "3" "90" "11" "6579307" "6579307" "subst" "0.000995159" "00006" "DNHD1_000034" "g.6579307C>T" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6558077C>T" "" "pathogenic (recessive)" "" "0000831202" "11" "90" "11" "6519967" "6519970" "del" "0" "00006" "DNHD1_000074" "g.6519967_6519970del" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6498737_6498740del" "" "pathogenic (recessive)" "" "0000831203" "10" "90" "11" "6519870" "6519873" "del" "0" "00006" "DNHD1_000073" "g.6519870_6519873del" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6498640_6498643del" "" "pathogenic (recessive)" "" "0000831204" "3" "90" "11" "6579434" "6579434" "subst" "0.00013545" "00006" "DNHD1_000081" "g.6579434A>G" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6558204A>G" "" "pathogenic (recessive)" "" "0000831205" "11" "90" "11" "6584341" "6584341" "subst" "4.71704E-5" "00006" "DNHD1_000082" "g.6584341C>T" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6563111C>T" "" "pathogenic (recessive)" "" "0000831206" "21" "90" "11" "6589387" "6589387" "subst" "0" "00006" "DNHD1_000083" "g.6589387G>A" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6568157G>A" "" "pathogenic (recessive)" "" "0000831207" "1" "90" "11" "6593188" "6593188" "subst" "0.00111888" "00006" "DNHD1_000085" "g.6593188T>C" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6571958T>C" "" "pathogenic (recessive)" "" "0000831208" "21" "90" "11" "6568667" "6568667" "subst" "1.98326E-5" "00006" "DNHD1_000080" "g.6568667T>G" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6547437T>G" "" "pathogenic (recessive)" "" "0000831209" "21" "90" "11" "6524147" "6524147" "subst" "0.000146882" "00006" "DNHD1_000075" "g.6524147G>A" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6502917G>A" "" "pathogenic (recessive)" "" "0000831210" "21" "90" "11" "6566241" "6566241" "subst" "0.0010442" "00006" "DNHD1_000076" "g.6566241C>T" "" "{PMID:Tan 2022:34932939}" "" "" "" "Germline" "" "" "0" "" "" "g.6545011C>T" "" "pathogenic (recessive)" "" "0000831211" "21" "90" "11" "6589407" "6589407" "subst" "0" "00006" "DNHD1_000084" "g.6589407A>G" "" "{PMID:Zhang 2015:26377240}" "" "" "" "Germline" "" "" "0" "" "" "g.6568177A>G" "" "pathogenic (recessive)" "" "0000831212" "11" "90" "11" "6566310" "6566310" "subst" "2.62767E-5" "00006" "DNHD1_000077" "g.6566310C>T" "" "{PMID:Zhang 2015:26377240}" "" "" "" "Germline" "" "" "0" "" "" "g.6545080C>T" "" "pathogenic (recessive)" "" "0000831213" "2" "90" "11" "6567516" "6567516" "del" "0" "00006" "DNHD1_000078" "g.6567516del" "" "{PMID:Zhang 2015:26377240}" "" "5347delC" "" "Germline" "" "" "0" "" "" "g.6546286del" "" "pathogenic (recessive)" "" "0000853092" "0" "30" "11" "6566210" "6566210" "subst" "0.00175627" "01943" "DNHD1_000086" "g.6566210C>T" "" "" "" "DNHD1(NM_144666.2):c.4041C>T (p.S1347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853093" "0" "50" "11" "6568158" "6568158" "subst" "0.000205559" "01943" "DNHD1_000087" "g.6568158G>A" "" "" "" "DNHD1(NM_144666.2):c.5989G>A (p.G1997S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999256" "0" "50" "11" "6519942" "6519942" "subst" "0" "01804" "DNHD1_000088" "g.6519942C>G" "" "" "" "DNHD1(NM_144666.2):c.497C>G (p.(Pro166Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999282" "0" "30" "11" "6550003" "6550003" "subst" "3.37377E-5" "01804" "DNHD1_000089" "g.6550003C>G" "" "" "" "DNHD1(NM_144666.2):c.2089C>G (p.(Gln697Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999283" "0" "50" "11" "6555314" "6555314" "subst" "3.37345E-5" "01804" "DNHD1_000090" "g.6555314C>A" "" "" "" "DNHD1(NM_144666.2):c.2909C>A (p.(Thr970Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999286" "0" "30" "11" "6565462" "6565462" "subst" "0" "01804" "DNHD1_000091" "g.6565462T>C" "" "" "" "DNHD1(NM_144666.2):c.3740T>C (p.(Ile1247Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999288" "0" "70" "11" "6566679" "6566679" "subst" "8.59732E-5" "01804" "DNHD1_000092" "g.6566679C>T" "" "" "" "DNHD1(NM_144666.2):c.4510C>T (p.(Gln1504*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999290" "0" "30" "11" "6567786" "6567786" "subst" "0.000385751" "01804" "DNHD1_000093" "g.6567786C>A" "" "" "" "DNHD1(NM_144666.2):c.5617C>A (p.(Arg1873Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999291" "0" "30" "11" "6568233" "6568233" "subst" "0.00676376" "01804" "DNHD1_000094" "g.6568233G>C" "" "" "" "DNHD1(NM_144666.2):c.6064G>C (p.(Gly2022Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999293" "0" "50" "11" "6579406" "6579406" "subst" "0" "01804" "DNHD1_000095" "g.6579406G>A" "" "" "" "DNHD1(NM_144666.2):c.8881G>A (p.(Ala2961Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999294" "0" "50" "11" "6579496" "6579496" "subst" "0" "01804" "DNHD1_000096" "g.6579496C>T" "" "" "" "DNHD1(NM_144666.2):c.8971C>T (p.(Gln2991*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999302" "0" "30" "11" "6585223" "6585223" "subst" "6.73337E-6" "01804" "DNHD1_000097" "g.6585223G>A" "" "" "" "DNHD1(NM_144666.2):c.10153G>A (p.(Val3385Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999303" "0" "50" "11" "6585626" "6585626" "subst" "3.36433E-5" "01804" "DNHD1_000098" "g.6585626T>C" "" "" "" "DNHD1(NM_144666.2):c.10348T>C (p.(Tyr3450His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999304" "0" "50" "11" "6585902" "6585902" "subst" "0.000390772" "01804" "DNHD1_000099" "g.6585902C>T" "" "" "" "DNHD1(NM_144666.2):c.10624C>T (p.(Arg3542*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999305" "0" "70" "11" "6587808" "6587817" "del" "0" "01804" "DNHD1_000100" "g.6587808_6587817del" "" "" "" "DNHD1(NM_144666.2):c.11207-9_11207delTACCCCAAGT (p.(Val3736fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000999306" "0" "50" "11" "6588881" "6588881" "subst" "0.000524966" "02327" "DNHD1_000101" "g.6588881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999307" "0" "50" "11" "6591914" "6591914" "subst" "4.16649E-6" "01804" "DNHD1_000102" "g.6591914A>C" "" "" "" "DNHD1(NM_144666.2):c.13172A>C (p.(Glu4391Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999308" "0" "30" "11" "6592531" "6592531" "subst" "0" "01804" "DNHD1_000103" "g.6592531C>A" "" "" "" "DNHD1(NM_144666.2):c.13789C>A (p.(Arg4597Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000999309" "0" "50" "11" "6592884" "6592884" "subst" "0" "01804" "DNHD1_000104" "g.6592884C>A" "" "" "" "DNHD1(NM_144666.2):c.13930C>A (p.(Pro4644Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999310" "0" "50" "11" "6593216" "6593216" "subst" "2.95626E-5" "01804" "DNHD1_000105" "g.6593216A>T" "" "" "" "DNHD1(NM_144666.2):c.14262A>T (p.(Ter4754Cysext*?))" "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 DNHD1 ## Count = 106 "{{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}}" "0000004965" "00000757" "50" "7387" "3621" "7387" "3621" "c.7387+3621T>C" "r.(=)" "p.(=)" "" "0000004966" "00000757" "50" "7387" "3737" "7387" "3737" "c.7387+3737A>G" "r.(=)" "p.(=)" "" "0000012922" "00000757" "50" "7387" "3737" "7387" "3737" "c.7387+3737A>G" "r.(=)" "p.(=)" "" "0000079137" "00000757" "00" "746" "1" "746" "1" "c.746+1G>T" "r.spl?" "p.?" "" "0000255910" "00000757" "50" "4767" "0" "4767" "0" "c.4767A>C" "r.(?)" "p.(Glu1589Asp)" "" "0000256682" "00000757" "50" "2027" "0" "2027" "0" "c.2027A>G" "r.(?)" "p.(Tyr676Cys)" "" "0000275412" "00000757" "50" "11894" "0" "11894" "0" "c.11894C>T" "r.(?)" "p.(Pro3965Leu)" "" "0000275413" "00000757" "30" "12885" "0" "12885" "0" "c.12885G>A" "r.(?)" "p.(Gln4295=)" "" "0000275414" "00000757" "50" "3323" "0" "3323" "0" "c.3323G>A" "r.(?)" "p.(Arg1108His)" "" "0000275415" "00000757" "30" "3492" "0" "3492" "0" "c.3492G>A" "r.(?)" "p.(Ala1164=)" "" "0000275416" "00000757" "50" "5676" "0" "5676" "0" "c.5676G>C" "r.(?)" "p.(Lys1892Asn)" "" "0000275417" "00000757" "50" "6395" "0" "6395" "0" "c.6395C>T" "r.(?)" "p.(Thr2132Ile)" "" "0000275418" "00000757" "50" "6616" "0" "6616" "0" "c.6616G>A" "r.(?)" "p.(Gly2206Arg)" "" "0000275419" "00000757" "50" "9724" "0" "9724" "0" "c.9724G>C" "r.(?)" "p.(Glu3242Gln)" "" "0000275420" "00000757" "50" "9740" "0" "9740" "0" "c.9740G>C" "r.(?)" "p.(Arg3247Pro)" "" "0000405930" "00000757" "50" "6109" "0" "6109" "0" "c.6109A>G" "r.(?)" "p.(Ser2037Gly)" "" "0000544963" "00000757" "30" "-529" "9" "-529" "9" "c.-529+9T>C" "r.(=)" "p.(=)" "" "0000544964" "00000757" "30" "85" "0" "85" "0" "c.85T>C" "r.(?)" "p.(Leu29=)" "" "0000544965" "00000757" "10" "890" "0" "890" "0" "c.890A>G" "r.(?)" "p.(Tyr297Cys)" "" "0000545016" "00000757" "30" "2394" "0" "2394" "0" "c.2394A>G" "r.(?)" "p.(Gln798=)" "" "0000545017" "00000757" "50" "2545" "0" "2545" "0" "c.2545C>T" "r.(?)" "p.(Arg849Ter)" "" "0000545018" "00000757" "50" "2581" "0" "2581" "0" "c.2581C>T" "r.(?)" "p.(Arg861Cys)" "" "0000545019" "00000757" "30" "3534" "0" "3534" "0" "c.3534C>T" "r.(?)" "p.(Tyr1178=)" "" "0000545036" "00000757" "30" "4654" "0" "4654" "0" "c.4654G>T" "r.(?)" "p.(Ala1552Ser)" "" "0000545038" "00000757" "30" "6616" "0" "6616" "0" "c.6616G>A" "r.(?)" "p.(Gly2206Arg)" "" "0000545039" "00000757" "50" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Gly2206Glu)" "" "0000545040" "00000757" "30" "6617" "0" "6617" "0" "c.6617G>A" "r.(?)" "p.(Gly2206Glu)" "" "0000545041" "00000757" "30" "6618" "0" "6618" "0" "c.6618G>A" "r.(?)" "p.(Gly2206=)" "" "0000545042" "00000757" "10" "6697" "0" "6697" "0" "c.6697C>T" "r.(?)" "p.(Arg2233Cys)" "" "0000545043" "00000757" "30" "6971" "0" "6971" "0" "c.6971C>T" "r.(?)" "p.(Pro2324Leu)" "" "0000545044" "00000757" "50" "7372" "0" "7372" "0" "c.7372C>T" "r.(?)" "p.(His2458Tyr)" "" "0000545045" "00000757" "70" "7818" "0" "7818" "0" "c.7818C>T" "r.(?)" "p.(Asn2606=)" "" "0000545047" "00000757" "30" "8319" "0" "8319" "0" "c.8319C>G" "r.(?)" "p.(Gly2773=)" "" "0000545049" "00000757" "50" "8782" "0" "8782" "0" "c.8782C>T" "r.(?)" "p.(Arg2928Ter)" "" "0000545055" "00000757" "50" "10261" "0" "10261" "0" "c.10261C>T" "r.(?)" "p.(Arg3421Cys)" "" "0000545056" "00000757" "50" "12355" "0" "12355" "0" "c.12355C>T" "r.(?)" "p.(Gln4119Ter)" "" "0000545057" "00000757" "50" "12491" "0" "12491" "0" "c.12491C>T" "r.(?)" "p.(Pro4164Leu)" "" "0000545058" "00000757" "50" "12539" "-1" "12539" "-1" "c.12539-1G>A" "r.spl?" "p.?" "" "0000545059" "00000757" "50" "13611" "0" "13611" "0" "c.13611G>A" "r.(?)" "p.(Trp4537Ter)" "" "0000545060" "00000757" "30" "13903" "0" "13903" "0" "c.13903C>T" "r.(?)" "p.(His4635Tyr)" "" "0000613545" "00000757" "30" "480" "0" "480" "0" "c.480C>T" "r.(?)" "p.(Pro160=)" "" "0000613560" "00000757" "30" "1938" "0" "1938" "0" "c.1938A>T" "r.(?)" "p.(Gly646=)" "" "0000613561" "00000757" "10" "2561" "0" "2561" "0" "c.2561G>A" "r.(?)" "p.(Arg854Gln)" "" "0000613574" "00000757" "30" "8904" "0" "8904" "0" "c.8904C>A" "r.(?)" "p.(Gly2968=)" "" "0000613576" "00000757" "50" "11207" "-2" "11207" "-2" "c.11207-2A>G" "r.spl?" "p.?" "" "0000656855" "00000757" "50" "3523" "0" "3523" "0" "c.3523dup" "r.(?)" "p.(His1175ProfsTer29)" "" "0000656861" "00000757" "10" "5264" "0" "5264" "0" "c.5264G>A" "r.(?)" "p.(Arg1755His)" "" "0000656862" "00000757" "50" "7888" "0" "7888" "0" "c.7888C>T" "r.(?)" "p.(Arg2630Ter)" "" "0000679262" "00000757" "50" "898" "0" "898" "0" "c.898G>A" "r.(?)" "p.(Val300Met)" "" "0000679275" "00000757" "50" "12931" "0" "12931" "0" "c.12931del" "r.(?)" "p.(Arg4311ValfsTer26)" "" "0000691129" "00000757" "50" "1345" "0" "1345" "0" "c.1345C>T" "r.(?)" "p.(Arg449Trp)" "" "0000691130" "00000757" "50" "1348" "0" "1348" "0" "c.1348C>T" "r.(?)" "p.(Leu450=)" "" "0000691131" "00000757" "30" "5839" "0" "5839" "0" "c.5839A>G" "r.(?)" "p.(Met1947Val)" "" "0000691132" "00000757" "30" "11622" "0" "11622" "0" "c.11622C>T" "r.(?)" "p.(Phe3874=)" "" "0000723579" "00000757" "50" "556" "0" "556" "0" "c.556C>T" "r.(?)" "p.(Arg186*)" "" "0000723587" "00000757" "50" "1387" "0" "1387" "0" "c.1387C>T" "r.(?)" "p.(Arg463*)" "" "0000723588" "00000757" "30" "2085" "0" "2085" "0" "c.2085A>G" "r.(?)" "p.(Ile695Met)" "" "0000723594" "00000757" "50" "10078" "0" "10078" "0" "c.10078G>T" "r.(?)" "p.(Glu3360*)" "" "0000723595" "00000757" "50" "12728" "0" "12728" "0" "c.12728T>C" "r.(?)" "p.(Ile4243Thr)" "" "0000763144" "00000757" "90" "12347" "0" "12347" "0" "c.12347dup" "r.(?)" "p.(Gln4117Alafs*14)" "" "0000805267" "00000757" "50" "1292" "0" "1292" "0" "c.1292A>G" "r.(?)" "p.(Tyr431Cys)" "" "0000805269" "00000757" "50" "1606" "0" "1611" "0" "c.1606_1611del" "r.(?)" "p.(Leu536_Glu537del)" "" "0000805274" "00000757" "50" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Asp635Asn)" "" "0000805275" "00000757" "50" "2839" "0" "2839" "0" "c.2839G>T" "r.(?)" "p.(Glu947*)" "" "0000805276" "00000757" "30" "3233" "0" "3233" "0" "c.3233G>A" "r.(?)" "p.(Arg1078His)" "" "0000805277" "00000757" "50" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Thr1122Met)" "" "0000805278" "00000757" "30" "6681" "0" "6681" "0" "c.6681G>C" "r.(?)" "p.(Leu2227=)" "" "0000805279" "00000757" "30" "8116" "0" "8116" "0" "c.8116C>A" "r.(?)" "p.(Pro2706Thr)" "" "0000805280" "00000757" "30" "10704" "0" "10704" "0" "c.10704G>A" "r.(?)" "p.(Pro3568=)" "" "0000805281" "00000757" "50" "10723" "0" "10723" "0" "c.10723C>T" "r.(?)" "p.(Arg3575*)" "" "0000805282" "00000757" "30" "12684" "0" "12684" "0" "c.12684G>A" "r.(?)" "p.(Met4228Ile)" "" "0000805283" "00000757" "30" "13946" "0" "13946" "0" "c.13946G>A" "r.(?)" "p.(Arg4649Lys)" "" "0000831200" "00000757" "90" "5560" "0" "5560" "0" "c.5560C>T" "r.(?)" "p.(Arg1854Cys)" "" "0000831201" "00000757" "90" "8782" "0" "8782" "0" "c.8782C>T" "r.(?)" "p.(Arg2928Ter)" "" "0000831202" "00000757" "90" "522" "0" "525" "0" "c.522_525del" "r.(?)" "p.(Arg174SerfsTer3)" "" "0000831203" "00000757" "90" "425" "0" "428" "0" "c.425_428del" "r.(?)" "p.(Asp142ValfsTer35)" "" "0000831204" "00000757" "90" "8909" "0" "8909" "0" "c.8909A>G" "r.(?)" "p.(Tyr2970Cys)" "" "0000831205" "00000757" "90" "9649" "0" "9649" "0" "c.9649C>T" "r.(?)" "p.(Arg3217Ter)" "" "0000831206" "00000757" "90" "12453" "0" "12453" "0" "c.12453G>A" "r.(?)" "p.(Trp4151Ter)" "" "0000831207" "00000757" "90" "14234" "0" "14234" "0" "c.14234T>C" "r.(?)" "p.(Val4745Ala)" "" "0000831208" "00000757" "90" "6498" "0" "6498" "0" "c.6498T>G" "r.(?)" "p.(Tyr2166Ter)" "" "0000831209" "00000757" "90" "911" "0" "911" "0" "c.911G>A" "r.(?)" "p.(Arg304Gln)" "" "0000831210" "00000757" "90" "4072" "0" "4072" "0" "c.4072C>T" "r.(?)" "p.(Arg1358Cys)" "" "0000831211" "00000757" "90" "12473" "0" "12473" "0" "c.12473A>G" "r.(?)" "p.(His4158Arg)" "" "0000831212" "00000757" "90" "4141" "0" "4141" "0" "c.4141C>T" "r.(?)" "p.(Gln1381Ter)" "" "0000831213" "00000757" "90" "5347" "0" "5347" "0" "c.5347del" "r.(?)" "p.(Gln1783SerfsTer28)" "" "0000853092" "00000757" "30" "4041" "0" "4041" "0" "c.4041C>T" "r.(?)" "p.(Ser1347=)" "" "0000853093" "00000757" "50" "5989" "0" "5989" "0" "c.5989G>A" "r.(?)" "p.(Gly1997Ser)" "" "0000999256" "00000757" "50" "497" "0" "497" "0" "c.497C>G" "r.(?)" "p.(Pro166Arg)" "" "0000999282" "00000757" "30" "2089" "0" "2089" "0" "c.2089C>G" "r.(?)" "p.(Gln697Glu)" "" "0000999283" "00000757" "50" "2909" "0" "2909" "0" "c.2909C>A" "r.(?)" "p.(Thr970Asn)" "" "0000999286" "00000757" "30" "3740" "0" "3740" "0" "c.3740T>C" "r.(?)" "p.(Ile1247Thr)" "" "0000999288" "00000757" "70" "4510" "0" "4510" "0" "c.4510C>T" "r.(?)" "p.(Gln1504*)" "" "0000999290" "00000757" "30" "5617" "0" "5617" "0" "c.5617C>A" "r.(?)" "p.(Arg1873Ser)" "" "0000999291" "00000757" "30" "6064" "0" "6064" "0" "c.6064G>C" "r.(?)" "p.(Gly2022Arg)" "" "0000999293" "00000757" "50" "8881" "0" "8881" "0" "c.8881G>A" "r.(?)" "p.(Ala2961Thr)" "" "0000999294" "00000757" "50" "8971" "0" "8971" "0" "c.8971C>T" "r.(?)" "p.(Gln2991*)" "" "0000999302" "00000757" "30" "10153" "0" "10153" "0" "c.10153G>A" "r.(?)" "p.(Val3385Met)" "" "0000999303" "00000757" "50" "10348" "0" "10348" "0" "c.10348T>C" "r.(?)" "p.(Tyr3450His)" "" "0000999304" "00000757" "50" "10624" "0" "10624" "0" "c.10624C>T" "r.(?)" "p.(Arg3542*)" "" "0000999305" "00000757" "70" "11207" "-9" "11207" "0" "c.11207-9_11207del" "r.spl?" "p.?" "" "0000999306" "00000757" "50" "12142" "0" "12142" "0" "c.12142C>T" "r.(?)" "p.(Arg4048*)" "" "0000999307" "00000757" "50" "13172" "0" "13172" "0" "c.13172A>C" "r.(?)" "p.(Glu4391Ala)" "" "0000999308" "00000757" "30" "13789" "0" "13789" "0" "c.13789C>A" "r.(?)" "p.(Arg4597Ser)" "" "0000999309" "00000757" "50" "13930" "0" "13930" "0" "c.13930C>A" "r.(?)" "p.(Pro4644Thr)" "" "0000999310" "00000757" "50" "14262" "0" "14262" "0" "c.14262A>T" "r.(?)" "p.(*4754Cysext*6)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004965" "0000000209" "0000004966" "0000000210" "0000012922" "0000050185" "0000079137" "0000182105" "0000405930" "0000362770" "0000763144" "0000398905" "0000831200" "0000398905" "0000831208" "0000398906" "0000831201" "0000398907" "0000831202" "0000398907" "0000831209" "0000398908" "0000831203" "0000398908" "0000831210" "0000398909" "0000831204" "0000398910" "0000831205" "0000398910" "0000831211" "0000398911" "0000831206" "0000398911" "0000831212" "0000398912" "0000831207" "0000398912" "0000831213"