### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DND1) # 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}}" "DND1" "dead end homolog 1 (zebrafish)" "5" "q31.3" "unknown" "NC_000005.9" "UD_136018536416" "" "https://www.LOVD.nl/DND1" "" "1" "23799" "373863" "609385" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/DND1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2026-09-08 19:53:06" "00000" "2025-02-07 18:57:27" ## 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}}" "00006590" "DND1" "dead end homolog 1 (zebrafish)" "001" "NM_194249.2" "" "NP_919225.1" "" "" "" "-44" "1559" "1062" "140053171" "140050381" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00050575" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00050575" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 1 "{{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/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037187" "00198" "00050575" "00006" "Isolated (sporadic)" "" "intellectual disability, seizures" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050520" "00050575" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 40 "{{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}}" "0000079500" "0" "90" "5" "123828524" "145717285" "dup" "0" "00006" "SIL1_000024" "g.123828524_145717285dup" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "mosaicism, copy number 3 in 0.38 cells" "Somatic" "" "" "0" "" "" "" "" "pathogenic" "" "0000246384" "0" "30" "5" "140057256" "140057256" "subst" "1.21821E-5" "02330" "HARS_000003" "g.140057256A>G" "" "" "" "HARS1(NM_002109.6):c.713T>C (p.V238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140677671A>G" "" "likely benign" "" "0000277542" "0" "50" "5" "140056377" "140056377" "subst" "0" "02330" "HARS_000011" "g.140056377C>T" "" "" "" "HARS1(NM_002109.6):c.1056G>A (p.L352=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140676792C>T" "" "VUS" "" "0000277543" "0" "50" "5" "140054604" "140054604" "subst" "0" "02330" "HARS_000009" "g.140054604T>C" "" "" "" "HARS1(NM_002109.6):c.1309A>G (p.K437E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140675019T>C" "" "VUS" "" "0000277544" "0" "10" "5" "140054257" "140054257" "subst" "0.237643" "02330" "HARS_000007" "g.140054257C>T" "" "" "" "HARS1(NM_002109.6):c.1458+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140674672C>T" "" "benign" "" "0000277548" "0" "10" "5" "140057535" "140057535" "subst" "0.0799795" "02330" "HARS_000012" "g.140057535G>A" "" "" "" "HARS1(NM_002109.6):c.588C>T (p.C196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140677950G>A" "" "benign" "" "0000281227" "0" "10" "5" "140054257" "140054257" "subst" "0.237643" "02325" "HARS_000007" "g.140054257C>T" "" "" "" "HARS1(NM_002109.6):c.1458+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140674672C>T" "" "benign" "" "0000288932" "0" "90" "5" "140056238" "140056238" "subst" "0" "01943" "HARS_000010" "g.140056238C>T" "" "" "" "HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140676653C>T" "" "pathogenic" "" "0000288933" "0" "50" "5" "140054277" "140054277" "subst" "0.000629672" "01943" "HARS_000008" "g.140054277G>A" "" "" "" "HARS(NM_002109.6):c.1445C>T (p.T482M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140674692G>A" "" "VUS" "" "0000330563" "0" "50" "5" "140048191" "140048194" "del" "0" "01804" "WDR55_000001" "g.140048191_140048194del" "" "" "" "WDR55(NM_017706.4):c.381-7_381-4del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.140668606_140668609del" "" "VUS" "" "0000524442" "0" "30" "5" "140050894" "140050894" "subst" "0" "01804" "DND1_000001" "g.140050894G>C" "" "" "" "DND1(NM_194249.2):c.1046C>G (p.(Thr349Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140671309G>C" "" "likely benign" "" "0000524443" "0" "30" "5" "140050907" "140050907" "subst" "0" "01804" "DND1_000002" "g.140050907C>T" "" "" "" "DND1(NM_194249.2):c.1033G>A (p.(Ala345Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140671322C>T" "" "likely benign" "" "0000524445" "0" "30" "5" "140051086" "140051086" "subst" "0" "01804" "DND1_000004" "g.140051086C>T" "" "" "" "DND1(NM_194249.2):c.854G>A (p.(Trp285Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140671501C>T" "" "likely benign" "" "0000524446" "0" "30" "5" "140054712" "140054712" "subst" "8.53513E-5" "01943" "DND1_000005" "g.140054712C>T" "" "" "" "HARS(NM_002109.6):c.1201G>A (p.E401K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140675127C>T" "" "likely benign" "" "0000524447" "0" "50" "5" "140056277" "140056277" "subst" "0" "01943" "DND1_000006" "g.140056277C>A" "" "" "" "HARS(NM_002109.6):c.1156G>T (p.V386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140676692C>A" "" "VUS" "" "0000524448" "0" "10" "5" "140056306" "140056306" "subst" "0.00119388" "02330" "HARS_000002" "g.140056306T>C" "" "" "" "HARS1(NM_002109.6):c.1127A>G (p.K376R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140676721T>C" "" "benign" "" "0000524449" "0" "10" "5" "140056555" "140056555" "subst" "0.0073266" "02330" "DND1_000007" "g.140056555C>T" "" "" "" "HARS1(NM_002109.6):c.951+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140676970C>T" "" "benign" "" "0000524450" "0" "10" "5" "140056622" "140056622" "subst" "6.50137E-5" "02330" "DND1_000008" "g.140056622G>A" "" "" "" "HARS1(NM_002109.6):c.903C>T (p.D301=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677037G>A" "" "benign" "" "0000524451" "0" "30" "5" "140056691" "140056691" "subst" "0" "01943" "DND1_000009" "g.140056691G>T" "" "" "" "HARS(NM_002109.6):c.834C>A (p.S278=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677106G>T" "" "likely benign" "" "0000524453" "0" "30" "5" "140057022" "140057022" "subst" "0.00086534" "02330" "DND1_000011" "g.140057022C>T" "" "" "" "HARS1(NM_001258041.3):c.670-17G>A, HARS1(NM_002109.6):c.730-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677437C>T" "" "likely benign" "" "0000524454" "0" "10" "5" "140057509" "140057509" "subst" "0.00288841" "02330" "DND1_000012" "g.140057509C>T" "" "" "" "HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677924C>T" "" "benign" "" "0000524455" "0" "50" "5" "140057509" "140057509" "subst" "0.00288841" "01943" "DND1_000012" "g.140057509C>T" "" "" "" "HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677924C>T" "" "VUS" "" "0000609525" "0" "50" "5" "140057256" "140057256" "subst" "1.21821E-5" "02327" "HARS_000003" "g.140057256A>G" "" "" "" "HARS1(NM_002109.6):c.713T>C (p.V238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677671A>G" "" "VUS" "" "0000655303" "0" "10" "5" "140054652" "140054652" "subst" "0.000808444" "02330" "DND1_000013" "g.140054652G>C" "" "" "" "HARS1(NM_001258041.3):c.1201C>G (p.L401V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140675067G>C" "" "benign" "" "0000655304" "0" "30" "5" "140057509" "140057509" "subst" "0.00288841" "02327" "DND1_000012" "g.140057509C>T" "" "" "" "HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.140677924C>T" "" "likely benign" "" "0000677413" "0" "30" "5" "140054276" "140054276" "subst" "2.84366E-5" "01943" "DND1_000014" "g.140054276C>T" "" "" "" "HARS(NM_001258041.2):c.1386G>A (p.T462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000677414" "0" "50" "5" "140056992" "140056992" "subst" "4.06114E-6" "01943" "DND1_000015" "g.140056992T>A" "" "" "" "HARS(NM_001258041.2):c.683A>T (p.E228V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000689441" "0" "50" "5" "140056935" "140056935" "subst" "3.2491E-5" "02330" "DND1_000016" "g.140056935A>G" "" "" "" "HARS1(NM_001258041.3):c.740T>C (p.I247T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000801922" "0" "10" "5" "140054717" "140054717" "subst" "0.00103274" "02330" "HARS_000026" "g.140054717G>A" "" "" "" "HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000859779" "0" "50" "5" "140056238" "140056238" "subst" "0" "02327" "HARS_000010" "g.140056238C>T" "" "" "" "HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912246" "0" "10" "5" "140054717" "140054717" "subst" "0.00103274" "02326" "HARS_000026" "g.140054717G>A" "" "" "" "HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000924253" "0" "50" "5" "140053886" "140053886" "subst" "0" "02325" "DND1_000017" "g.140053886C>T" "" "" "" "HARS1(NM_002109.6):c.1486G>A (p.E496K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929021" "0" "30" "5" "140057357" "140057357" "subst" "1.62451E-5" "02330" "DND1_000018" "g.140057357T>C" "" "" "" "HARS1(NM_002109.6):c.631-19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963462" "0" "30" "5" "140057022" "140057022" "subst" "0.00086534" "02326" "DND1_000011" "g.140057022C>T" "" "" "" "HARS1(NM_001258041.3):c.670-17G>A, HARS1(NM_002109.6):c.730-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000963463" "0" "30" "5" "140057501" "140057501" "subst" "4.06227E-6" "02330" "DND1_000020" "g.140057501G>A" "" "" "" "HARS1(NM_002109.6):c.622C>T (p.L208=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000976597" "0" "50" "5" "140056484" "140056484" "subst" "1.6282E-5" "01804" "DND1_000021" "g.140056484G>T" "" "" "" "HARS(NM_002109.6):c.952-3C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994696" "0" "50" "5" "140052341" "140052341" "subst" "0" "01804" "DND1_000022" "g.140052341C>A" "" "" "" "DND1(NM_194249.2):c.293G>T (p.(Arg98Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000994697" "0" "50" "5" "140056997" "140056997" "subst" "0" "01804" "DND1_000023" "g.140056997C>G" "" "" "" "HARS(NM_002109.4):c.738G>C (p.(Trp246Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025046" "0" "50" "5" "140056238" "140056238" "subst" "0" "02330" "HARS_000010" "g.140056238C>T" "" "" "" "HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025047" "0" "50" "5" "140057256" "140057256" "subst" "1.21821E-5" "02325" "HARS_000003" "g.140057256A>G" "" "" "" "HARS1(NM_002109.6):c.713T>C (p.V238A)" "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 DND1 ## Count = 40 "{{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}}" "0000079500" "00006590" "00" "-5664158" "0" "8388607" "0" "c.-5664158_*16222354dup" "" "" "" "0000246384" "00006590" "30" "-4129" "0" "-4129" "0" "c.-4129T>C" "r.(?)" "p.(=)" "" "0000277542" "00006590" "50" "-3250" "0" "-3250" "0" "c.-3250G>A" "r.(?)" "p.(=)" "" "0000277543" "00006590" "50" "-1477" "0" "-1477" "0" "c.-1477A>G" "r.(?)" "p.(=)" "" "0000277544" "00006590" "10" "-1130" "0" "-1130" "0" "c.-1130G>A" "r.(?)" "p.(=)" "" "0000277548" "00006590" "10" "-4408" "0" "-4408" "0" "c.-4408C>T" "r.(?)" "p.(=)" "" "0000281227" "00006590" "10" "-1130" "0" "-1130" "0" "c.-1130G>A" "r.(?)" "p.(=)" "" "0000288932" "00006590" "90" "-3111" "0" "-3111" "0" "c.-3111G>A" "r.(?)" "p.(=)" "" "0000288933" "00006590" "50" "-1150" "0" "-1150" "0" "c.-1150C>T" "r.(?)" "p.(=)" "" "0000330563" "00006590" "50" "3747" "0" "3750" "0" "c.*2685_*2688del" "r.(=)" "p.(=)" "" "0000524442" "00006590" "30" "1046" "0" "1046" "0" "c.1046C>G" "r.(?)" "p.(Thr349Ser)" "" "0000524443" "00006590" "30" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Ala345Thr)" "" "0000524445" "00006590" "30" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Trp285Ter)" "" "0000524446" "00006590" "30" "-1585" "0" "-1585" "0" "c.-1585G>A" "r.(?)" "p.(=)" "" "0000524447" "00006590" "50" "-3150" "0" "-3150" "0" "c.-3150G>T" "r.(?)" "p.(=)" "" "0000524448" "00006590" "10" "-3179" "0" "-3179" "0" "c.-3179A>G" "r.(?)" "p.(=)" "" "0000524449" "00006590" "10" "-3428" "0" "-3428" "0" "c.-3428G>A" "r.(?)" "p.(=)" "" "0000524450" "00006590" "10" "-3495" "0" "-3495" "0" "c.-3495C>T" "r.(?)" "p.(=)" "" "0000524451" "00006590" "30" "-3564" "0" "-3564" "0" "c.-3564C>A" "r.(?)" "p.(=)" "" "0000524453" "00006590" "30" "-3895" "0" "-3895" "0" "c.-3895G>A" "r.(?)" "p.(=)" "" "0000524454" "00006590" "10" "-4382" "0" "-4382" "0" "c.-4382G>A" "r.(?)" "p.(=)" "" "0000524455" "00006590" "50" "-4382" "0" "-4382" "0" "c.-4382G>A" "r.(?)" "p.(=)" "" "0000609525" "00006590" "50" "-4129" "0" "-4129" "0" "c.-4129T>C" "r.(?)" "p.(=)" "" "0000655303" "00006590" "10" "-1525" "0" "-1525" "0" "c.-1525C>G" "r.(?)" "p.(=)" "" "0000655304" "00006590" "30" "-4382" "0" "-4382" "0" "c.-4382G>A" "r.(?)" "p.(=)" "" "0000677413" "00006590" "30" "-1149" "0" "-1149" "0" "c.-1149G>A" "r.(?)" "p.(=)" "" "0000677414" "00006590" "50" "-3865" "0" "-3865" "0" "c.-3865A>T" "r.(?)" "p.(=)" "" "0000689441" "00006590" "50" "-3808" "0" "-3808" "0" "c.-3808T>C" "r.(?)" "p.(=)" "" "0000801922" "00006590" "10" "-1590" "0" "-1590" "0" "c.-1590C>T" "r.(?)" "p.(=)" "" "0000859779" "00006590" "50" "-3111" "0" "-3111" "0" "c.-3111G>A" "r.(?)" "p.(=)" "" "0000912246" "00006590" "10" "-1590" "0" "-1590" "0" "c.-1590C>T" "r.(?)" "p.(=)" "" "0000924253" "00006590" "50" "-759" "0" "-759" "0" "c.-759G>A" "r.(?)" "p.(=)" "" "0000929021" "00006590" "30" "-4230" "0" "-4230" "0" "c.-4230A>G" "r.(?)" "p.(=)" "" "0000963462" "00006590" "30" "-3895" "0" "-3895" "0" "c.-3895G>A" "r.(?)" "p.(=)" "" "0000963463" "00006590" "30" "-4374" "0" "-4374" "0" "c.-4374C>T" "r.(?)" "p.(=)" "" "0000976597" "00006590" "50" "-3357" "0" "-3357" "0" "c.-3357C>A" "r.(?)" "p.(=)" "" "0000994696" "00006590" "50" "293" "0" "293" "0" "c.293G>T" "r.(?)" "p.(Arg98Leu)" "" "0000994697" "00006590" "50" "-3870" "0" "-3870" "0" "c.-3870G>C" "r.(?)" "p.(=)" "" "0001025046" "00006590" "50" "-3111" "0" "-3111" "0" "c.-3111G>A" "r.(?)" "p.(=)" "" "0001025047" "00006590" "50" "-4129" "0" "-4129" "0" "c.-4129T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000050520" "0000079500"