### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = DTHD1)
# 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}}"
"DTHD1" "death domain containing 1" "4" "p14" "unknown" "NG_032962.1" "UD_136021967683" "" "https://www.LOVD.nl/DTHD1" "" "1" "37261" "401124" "616979" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DTHD1_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2012-09-24 00:00:00" "00006" "2020-11-13 14:20:14" "00000" "2025-05-05 21:14:00"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00024050" "DTHD1" "transcript variant 1" "002" "NM_001170700.2" "" "NP_001164171.1" "" "" "" "-58" "3307" "2346" "36285644" "36346407" "00008" "2015-08-17 15:12:04" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"04210" "LCA" "Leber congenital amaurosis (LCA)" "" "" "" "" "" "00006" "2015-02-27 18:57:11" "" ""
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00059795" "" "" "" "1" "" "00039" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "" "" "0" "" "" "" ""
"00358968" "" "" "" "1" "" "00000" "{PMID:Tiwari 2016:27353947}" "see paper" "F" "" "Switzerland" "" "0" "" "" "" "Case29303"
"00375418" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#010"
"00386205" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-325"
"00386206" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "?" "" "Spain" "" "0" "" "" "" "RPN-326"
"00386260" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-238, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-608"
"00386269" "" "" "" "1" "" "00000" "{PMID:Rodriguez-Munoz 2020:32036094}" "family fRPN-50, proband" "F" "" "Spain" "" "0" "" "" "" "RPN-125"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 7
"{{individualid}}" "{{diseaseid}}"
"00059795" "04210"
"00358968" "04214"
"00375418" "04214"
"00386205" "04214"
"00386206" "04214"
"00386260" "04214"
"00386269" "04214"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04210, 04214
## Count = 7
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000046287" "04210" "00059795" "00039" "Familial, autosomal recessive" "" "myopathy" "" "" "" "" "" "" "" "" ""
"0000254266" "04214" "00358968" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa"
"0000270632" "04214" "00375418" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "retinitis pigmentosa"
"0000280008" "04214" "00386205" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy"
"0000280009" "04214" "00386206" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "Best macular dystrophy"
"0000280063" "04214" "00386260" "00000" "Familial, autosomal dominant" "41y" "" "" "21y" "" "" "" "" "" "macular dystrophy" ""
"0000280072" "04214" "00386269" "00000" "Familial, autosomal recessive" "51y" "" "" "19y" "" "" "" "" "" "Stargardt Disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 7
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000059782" "00059795" "1" "00039" "00008" "2012-09-24 16:17:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000360205" "00358968" "1" "00000" "00006" "2021-03-18 12:15:00" "" "" "SEQ-NG" "DNA" "" "WES"
"0000376615" "00375418" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000387434" "00386205" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387435" "00386206" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387489" "00386260" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000387498" "00386269" "1" "00000" "03840" "2021-10-20 11:58:39" "" "" "SEQ-NG-I" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}" "{{geneid}}"
"0000059782" "DTHD1"
"0000387434" "CERKL"
"0000387435" "ABCA4"
"0000387489" "PRPH2"
"0000387498" "ABCA4"
## 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 = 39
"{{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}}"
"0000090898" "3" "90" "4" "36285703" "36285703" "subst" "0" "00039" "DTHD1_000001" "g.36285703T>C" "" "{PMID:Abu-Safieh-2013:23105016}" "" "" "" "Unknown" "" "" "0" "" "" "g.36284081T>C" "" "pathogenic" ""
"0000246291" "0" "50" "4" "36345360" "36345360" "del" "0.000633477" "02330" "DTHD1_000009" "g.36345360del" "" "" "" "DTHD1(NM_001170700.3):c.2635delA (p.S879Vfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36343738del" "" "VUS" ""
"0000265705" "0" "30" "4" "36310133" "36310133" "subst" "0.000616718" "02330" "DTHD1_000004" "g.36310133T>G" "" "" "" "DTHD1(NM_001170700.3):c.2095+18T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36308511T>G" "" "likely benign" ""
"0000265706" "0" "30" "4" "36345224" "36345232" "del" "0" "02330" "DTHD1_000006" "g.36345224_36345232del" "" "" "" "DTHD1(NM_001170700.2):c.2124_2132delTCAGCTCAT (p.(Gln709_Ile711del)), DTHD1(NM_001170700.3):c.2499_2507delTCAGCTCAT (p.Q834_I836del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36343602_36343610del" "" "likely benign" ""
"0000265707" "0" "10" "4" "36345345" "36345345" "subst" "0.00128815" "02330" "DTHD1_000007" "g.36345345C>A" "" "" "" "DTHD1(NM_001170700.2):c.2245C>A (p.R749S), DTHD1(NM_001170700.3):c.2620C>A (p.R874S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36343723C>A" "" "benign" ""
"0000265708" "0" "50" "4" "36345345" "36345345" "subst" "0.000119519" "02330" "DTHD1_000008" "g.36345345C>T" "" "" "" "DTHD1(NM_001170700.2):c.2245C>T (p.R749C), DTHD1(NM_001170700.3):c.2620C>T (p.R874C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36343723C>T" "" "VUS" ""
"0000275747" "0" "30" "4" "36318073" "36318073" "subst" "0" "01943" "DTHD1_000005" "g.36318073T>C" "" "" "" "DTHD1(NM_001170700.2):c.1930T>C (p.L644=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36316451T>C" "" "likely benign" ""
"0000275748" "0" "10" "4" "36292009" "36292009" "subst" "0.00090317" "01943" "DTHD1_000002" "g.36292009T>A" "" "" "" "DTHD1(NM_001170700.2):c.527T>A (p.L176Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36290387T>A" "" "benign" ""
"0000275749" "0" "90" "4" "36292326" "36292326" "subst" "0.000399054" "01943" "DTHD1_000003" "g.36292326G>T" "" "" "" "DTHD1(NM_001170700.2):c.843+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36290704G>T" "" "pathogenic" ""
"0000522503" "0" "30" "4" "36295219" "36295219" "subst" "5.97031E-5" "01943" "DTHD1_000010" "g.36295219G>A" "" "" "" "DTHD1(NM_001170700.2):c.915G>A (p.S305=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36293597G>A" "" "likely benign" ""
"0000522504" "0" "10" "4" "36296411" "36296411" "subst" "1.54921E-5" "02330" "DTHD1_000011" "g.36296411G>C" "" "" "" "DTHD1(NM_001170700.3):c.1399-6G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36294789G>C" "" "benign" ""
"0000522505" "0" "10" "4" "36309976" "36309976" "subst" "0.00138393" "02330" "DTHD1_000012" "g.36309976G>A" "" "" "" "DTHD1(NM_001170700.3):c.1956G>A (p.V652=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36308354G>A" "" "benign" ""
"0000522506" "0" "30" "4" "36317952" "36317952" "subst" "7.20612E-5" "01943" "DTHD1_000013" "g.36317952C>T" "" "" "" "DTHD1(NM_001170700.2):c.1809C>T (p.D603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36316330C>T" "" "likely benign" ""
"0000522507" "0" "50" "4" "36317963" "36317963" "del" "0" "01943" "DTHD1_000014" "g.36317963del" "" "" "" "DTHD1(NM_001170700.2):c.1820delA (p.N607Tfs*21)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36316341del" "" "VUS" ""
"0000522508" "0" "50" "4" "36318099" "36318099" "del" "0" "01943" "DTHD1_000015" "g.36318099del" "" "" "" "DTHD1(NM_001170700.2):c.1956delA (p.K652Nfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36316477del" "" "VUS" ""
"0000522509" "0" "10" "4" "36340716" "36340716" "subst" "0.00359536" "02330" "DTHD1_000016" "g.36340716G>A" "" "" "" "DTHD1(NM_001170700.3):c.2341-18G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36339094G>A" "" "benign" ""
"0000522510" "0" "50" "4" "36345345" "36345345" "subst" "0.000119519" "01943" "DTHD1_000008" "g.36345345C>T" "" "" "" "DTHD1(NM_001170700.2):c.2245C>T (p.R749C), DTHD1(NM_001170700.3):c.2620C>T (p.R874C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36343723C>T" "" "VUS" ""
"0000609209" "0" "30" "4" "36292142" "36292142" "subst" "5.93879E-5" "01943" "DTHD1_000017" "g.36292142C>T" "" "" "" "DTHD1(NM_001170700.2):c.660C>T (p.N220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36290520C>T" "" "likely benign" ""
"0000621391" "0" "50" "4" "36310064" "36310064" "subst" "2.63127E-5" "01943" "DTHD1_000018" "g.36310064C>T" "" "" "" "DTHD1(NM_001170700.2):c.1669C>T (p.R557*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36308442C>T" "" "VUS" ""
"0000677272" "0" "50" "4" "36345345" "36345345" "subst" "0.00128815" "01943" "DTHD1_000007" "g.36345345C>A" "" "" "" "DTHD1(NM_001170700.2):c.2245C>A (p.R749S), DTHD1(NM_001170700.3):c.2620C>A (p.R874S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000689297" "0" "30" "4" "36292082" "36292082" "subst" "0.000144647" "01943" "DTHD1_000019" "g.36292082C>T" "" "" "" "DTHD1(NM_001170700.2):c.600C>T (p.C200=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000760044" "0" "50" "4" "36309837" "36309837" "subst" "0.000104744" "00000" "DTHD1_000020" "g.36309837T>C" "" "{PMID:Tiwari 2016:27353947}" "" "" "" "Germline" "" "" "0" "" "" "g.36308215T>C" "" "VUS" ""
"0000788404" "0" "50" "4" "36292017" "36292017" "subst" "0.000611536" "00000" "DTHD1_000021" "g.36292017G>A" "" "{PMID:Katagiri 2014:25268133}" "" "G535A" "" "Germline" "" "rs200576831" "0" "" "" "g.36290395G>A" "" "VUS" ""
"0000801636" "0" "30" "4" "36286160" "36286160" "subst" "0.000572675" "01943" "DTHD1_000022" "g.36286160T>C" "" "" "" "DTHD1(NM_001170700.2):c.459T>C (p.T153=), DTHD1(NM_001170700.3):c.834T>C (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000801637" "0" "50" "4" "36296567" "36296567" "subst" "0" "01943" "DTHD1_000023" "g.36296567C>G" "" "" "" "DTHD1(NM_001170700.2):c.1174C>G (p.P392A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000801638" "0" "30" "4" "36307868" "36307868" "subst" "0" "01943" "DTHD1_000024" "g.36307868T>C" "" "" "" "DTHD1(NM_001170700.2):c.1324T>C (p.L442=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000815438" "0" "50" "4" "36345345" "36345345" "subst" "0.00128815" "00000" "DTHD1_000007" "g.36345345C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "DTHD1:NM_001170700 c.C2245A, p.R749S" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.36343723C>A" "" "VUS" "ACMG"
"0000815531" "0" "50" "4" "36295224" "36295224" "subst" "1.32696E-5" "00000" "DTHD1_000025" "g.36295224C>T" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "DTHD1:NM_001170700 c.C920T, p.T307I" "heterozygous, individual solved, variant non-causal" "Germline" "?" "" "0" "" "" "g.36293602C>T" "" "VUS" "ACMG"
"0000815599" "0" "50" "4" "36345345" "36345345" "subst" "0.00128815" "00000" "DTHD1_000007" "g.36345345C>A" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "DTHD1:NM_001170700 c.C2245A, p.R749S" "heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.36343723C>A" "" "VUS" "ACMG"
"0000815605" "0" "50" "4" "36345224" "36345232" "del" "0" "00000" "DTHD1_000006" "g.36345224_36345232del" "" "{PMID:Rodriguez-Munoz 2020:32036094}" "" "DTHD1:NM_001170700 c.2121_2129del, p.707_710del" "error in annotation: c.2121_2129del causes p.(Tyr708_Leu710del) and not p.707_710del, heterozygous, individual unsolved, causality of variants unknown" "Germline" "?" "" "0" "" "" "g.36343602_36343610del" "" "VUS" "ACMG"
"0000850600" "0" "30" "4" "36310102" "36310102" "subst" "0.000218552" "01943" "DTHD1_000026" "g.36310102C>T" "" "" "" "DTHD1(NM_001136536.5):c.1212C>T (p.N404=), DTHD1(NM_001170700.2):c.1707C>T (p.N569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850601" "0" "30" "4" "36318049" "36318049" "subst" "1.97218E-5" "01943" "DTHD1_000027" "g.36318049G>C" "" "" "" "DTHD1(NM_001170700.2):c.1906G>C (p.V636L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000850602" "0" "50" "4" "36318083" "36318083" "subst" "2.69052E-5" "01943" "DTHD1_000028" "g.36318083G>T" "" "" "" "DTHD1(NM_001170700.2):c.1940G>T (p.C647F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000886266" "0" "30" "4" "36285950" "36285950" "subst" "5.93648E-5" "02330" "DTHD1_000029" "g.36285950G>A" "" "" "" "DTHD1(NM_001170700.3):c.624G>A (p.Q208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886267" "0" "30" "4" "36286160" "36286160" "subst" "0.000572675" "02330" "DTHD1_000022" "g.36286160T>C" "" "" "" "DTHD1(NM_001170700.2):c.459T>C (p.T153=), DTHD1(NM_001170700.3):c.834T>C (p.T278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000886268" "0" "30" "4" "36310102" "36310102" "subst" "0.000218552" "02330" "DTHD1_000026" "g.36310102C>T" "" "" "" "DTHD1(NM_001136536.5):c.1212C>T (p.N404=), DTHD1(NM_001170700.2):c.1707C>T (p.N569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994273" "0" "30" "4" "36292042" "36292042" "subst" "0" "01804" "DTHD1_000030" "g.36292042A>T" "" "" "" "DTHD1(NM_001170700.2):c.560A>T (p.(Tyr187Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000994274" "0" "30" "4" "36345224" "36345232" "del" "0" "01804" "DTHD1_000006" "g.36345224_36345232del" "" "" "" "DTHD1(NM_001170700.2):c.2124_2132delTCAGCTCAT (p.(Gln709_Ile711del)), DTHD1(NM_001170700.3):c.2499_2507delTCAGCTCAT (p.Q834_I836del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001034543" "0" "50" "4" "36283591" "36283591" "subst" "0.000163506" "01804" "DTHD1_000031" "g.36283591T>G" "" "" "" "DTHD1(NM_001170700.3):c.211T>G (p.(Ser71Ala))" "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 DTHD1
## Count = 39
"{{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}}"
"0000090898" "00024050" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1"
"0000246291" "00024050" "50" "2260" "0" "2260" "0" "c.2260del" "r.(?)" "p.(Ser754ValfsTer25)" ""
"0000265705" "00024050" "30" "1720" "18" "1720" "18" "c.1720+18T>G" "r.(=)" "p.(=)" ""
"0000265706" "00024050" "30" "2124" "0" "2132" "0" "c.2124_2132del" "r.(?)" "p.(Gln709_Ile711del)" ""
"0000265707" "00024050" "10" "2245" "0" "2245" "0" "c.2245C>A" "r.(?)" "p.(Arg749Ser)" ""
"0000265708" "00024050" "50" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Cys)" ""
"0000275747" "00024050" "30" "1930" "0" "1930" "0" "c.1930T>C" "r.(?)" "p.(Leu644=)" ""
"0000275748" "00024050" "10" "527" "0" "527" "0" "c.527T>A" "r.(?)" "p.(Leu176Gln)" ""
"0000275749" "00024050" "90" "843" "1" "843" "1" "c.843+1G>T" "r.spl?" "p.?" ""
"0000522503" "00024050" "30" "915" "0" "915" "0" "c.915G>A" "r.(?)" "p.(Ser305=)" ""
"0000522504" "00024050" "10" "1024" "-6" "1024" "-6" "c.1024-6G>C" "r.(=)" "p.(=)" ""
"0000522505" "00024050" "10" "1581" "0" "1581" "0" "c.1581G>A" "r.(?)" "p.(Val527=)" ""
"0000522506" "00024050" "30" "1809" "0" "1809" "0" "c.1809C>T" "r.(?)" "p.(Asp603=)" ""
"0000522507" "00024050" "50" "1820" "0" "1820" "0" "c.1820del" "r.(?)" "p.(Asn607ThrfsTer21)" ""
"0000522508" "00024050" "50" "1956" "0" "1956" "0" "c.1956del" "r.(?)" "p.(Lys652AsnfsTer8)" ""
"0000522509" "00024050" "10" "1966" "-18" "1966" "-18" "c.1966-18G>A" "r.(=)" "p.(=)" ""
"0000522510" "00024050" "50" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Cys)" ""
"0000609209" "00024050" "30" "660" "0" "660" "0" "c.660C>T" "r.(?)" "p.(Asn220=)" ""
"0000621391" "00024050" "50" "1669" "0" "1669" "0" "c.1669C>T" "r.(?)" "p.(Arg557Ter)" ""
"0000677272" "00024050" "50" "2245" "0" "2245" "0" "c.2245C>A" "r.(?)" "p.(Arg749Ser)" ""
"0000689297" "00024050" "30" "600" "0" "600" "0" "c.600C>T" "r.(?)" "p.(Cys200=)" ""
"0000760044" "00024050" "50" "1442" "0" "1442" "0" "c.1442T>C" "r.(?)" "p.(Leu481Pro)" ""
"0000788404" "00024050" "50" "535" "0" "535" "0" "c.535G>A" "r.(?)" "p.(Val179Ile)" "2"
"0000801636" "00024050" "30" "459" "0" "459" "0" "c.459T>C" "r.(?)" "p.(Thr153=)" ""
"0000801637" "00024050" "50" "1174" "0" "1174" "0" "c.1174C>G" "r.(?)" "p.(Pro392Ala)" ""
"0000801638" "00024050" "30" "1324" "0" "1324" "0" "c.1324T>C" "r.(?)" "p.(Leu442=)" ""
"0000815438" "00024050" "50" "2245" "0" "2245" "0" "c.2245C>A" "r.(?)" "p.(Arg749Ser)" ""
"0000815531" "00024050" "50" "920" "0" "920" "0" "c.920C>T" "r.(?)" "p.(Thr307Ile)" ""
"0000815599" "00024050" "50" "2245" "0" "2245" "0" "c.2245C>A" "r.(?)" "p.(Arg749Ser)" ""
"0000815605" "00024050" "50" "2121" "0" "2129" "0" "c.2121_2129del" "r.(?)" "p.(Tyr708_Leu710del)" ""
"0000850600" "00024050" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Asn569=)" ""
"0000850601" "00024050" "30" "1906" "0" "1906" "0" "c.1906G>C" "r.(?)" "p.(Val636Leu)" ""
"0000850602" "00024050" "50" "1940" "0" "1940" "0" "c.1940G>T" "r.(?)" "p.(Cys647Phe)" ""
"0000886266" "00024050" "30" "249" "0" "249" "0" "c.249G>A" "r.(?)" "p.(Gln83=)" ""
"0000886267" "00024050" "30" "459" "0" "459" "0" "c.459T>C" "r.(?)" "p.(Thr153=)" ""
"0000886268" "00024050" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Asn569=)" ""
"0000994273" "00024050" "30" "560" "0" "560" "0" "c.560A>T" "r.(?)" "p.(Tyr187Phe)" ""
"0000994274" "00024050" "30" "2124" "0" "2132" "0" "c.2124_2132del" "r.(?)" "p.(Gln709_Ile711del)" ""
"0001034543" "00024050" "50" "-2111" "0" "-2111" "0" "c.-2111T>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000059782" "0000090898"
"0000360205" "0000760044"
"0000376615" "0000788404"
"0000387434" "0000815599"
"0000387435" "0000815605"
"0000387489" "0000815438"
"0000387498" "0000815531"