### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DACH2) # 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}}" "DACH2" "dachshund homolog 2 (Drosophila)" "X" "q21.3" "unknown" "NG_012817.1" "UD_132118577439" "" "http://www.LOVD.nl/DACH2" "" "1" "16814" "117154" "300608" "1" "1" "1" "1" "Establishment of this gene variant database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/DACH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2015-07-04 15:31:58" "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}}" "00000687" "DACH2" "transcript variant 1" "001" "NM_053281.3" "" "NP_444511.1" "" "" "" "-170" "2247" "1800" "85403455" "86087605" "00000" "2012-09-13 12:46:46" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00187" "MRX;IDX" "mental retardation, X-linked (MRX, intellectual disability (IDX))" "" "" "" "X-linked" "" "00006" "2013-09-05 15:56:47" "00006" "2018-12-18 09:23:21" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02770" "RPIAD" "ribose-5-phosphate isomerase deficiency (RPIAD)" "AR" "608611" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-08-25 17:21:16" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "" "" "00045137" "" "" "" "1" "" "01261" "" "hemizygote patient, mother heterozygous carrier" "M" "no" "Estonia" "" "0" "yes" "" "white" "" "00173572" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00173596" "" "" "" "1" "" "00124" "{PMID:Tarpey 2009:19377476}" "" "M" "" "" "" "0" "for details contact Lucy Raymond (flr24 @ cam.ac.uk)" "" "" "19377476-Pat?" "00226142" "" "" "" "1" "" "03219" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "3-generation family, unaffected heterozygous carrier parents" "M" "" "India" "" "0" "" "" "" "FamPatIII1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00045137" "00139" "00045137" "00187" "00173572" "00187" "00173596" "00187" "00226142" "02770" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00187, 01157, 02770 ## Count = 6 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000034210" "00139" "00045137" "01261" "Isolated (sporadic)" "17y" "ID, epilepsy, scoliosis, spasticity (hypotonia in infancy), hyperkinetic movements; severe intellectual disability (HP:0010864); global developmental delay (HP:0001263); motor delay (HP:0001270)" "<01y" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "0000138436" "00187" "00173572" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000138460" "00187" "00173596" "00124" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "MRX" "0000233444" "02770" "00226142" "03219" "Familial, autosomal recessive" "" "see paper; ..., developmental delay; speech delay; epilepsy; regression; dysarthria; no nystagmus; ataxia; spasticity; exaggerated deep tendon reflexes; extensor plantar reflex; increased urine polyol levels; retinitis pigmentosa; cerebral white matter abnormalities; no hearing loss; EEG slow right frontal discharge with epileptiform activity" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{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" "" "" "0000045243" "00045137" "1" "01261" "01261" "2015-07-01 12:58:28" "" "" "SEQ;SEQ-NG-I" "DNA" "Blood" "" "0000174455" "00173572" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000174479" "00173596" "1" "00124" "00006" "2009-04-08 14:01:02" "00006" "2009-05-19 12:33:15" "SEQ" "DNA" "" "" "0000227218" "00226142" "1" "03219" "03219" "2019-02-28 07:37:43" "" "" "-" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{geneid}}" "0000174455" "ASMT" "0000174479" "MTMR8" ## 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 = 46 "{{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}}" "0000002043" "20" "50" "X" "86083044" "86083047" "del" "0" "00037" "DACH2_000014" "g.86083044_86083047del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86828041_86828044del" "" "VUS" "" "0000002044" "20" "50" "X" "86086809" "86086810" "ins" "0" "00037" "DACH2_000028" "g.86086809_86086810insG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86831806_86831807insG" "" "VUS" "" "0000003083" "20" "50" "X" "86083039" "86083042" "del" "0" "00037" "DACH2_000039" "g.86083039_86083042del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86828036_86828039del" "" "VUS" "" "0000007241" "20" "50" "X" "85560205" "85560205" "subst" "0" "00037" "DACH2_000036" "g.85560205A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86305202A>G" "" "VUS" "" "0000007242" "20" "50" "X" "85969403" "85969403" "subst" "0" "00037" "DACH2_000033" "g.85969403A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86714400A>C" "" "VUS" "" "0000007243" "20" "30" "X" "85994683" "85994683" "subst" "0" "00037" "DACH2_000003" "g.85994683G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86739680G>T" "" "likely benign" "" "0000007244" "20" "50" "X" "86067615" "86067615" "subst" "0" "00037" "DACH2_000004" "g.86067615G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86812612G>A" "" "VUS" "" "0000007245" "20" "50" "X" "86070055" "86070055" "subst" "0" "00037" "DACH2_000007" "g.86070055A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86815052A>T" "" "VUS" "" "0000007246" "20" "50" "X" "86071151" "86071151" "subst" "0.327537" "00037" "DACH2_000009" "g.86071151C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86816148C>G" "" "VUS" "" "0000007247" "20" "50" "X" "86083760" "86083760" "subst" "0" "00037" "DACH2_000016" "g.86083760G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86828757G>T" "" "VUS" "" "0000007248" "20" "50" "X" "86084856" "86084856" "subst" "0" "00037" "DACH2_000019" "g.86084856T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86829853T>C" "" "VUS" "" "0000007249" "20" "50" "X" "86085179" "86085179" "subst" "0" "00037" "DACH2_000022" "g.86085179G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86830176G>A" "" "VUS" "" "0000007250" "20" "50" "X" "86086609" "86086609" "subst" "0" "00037" "DACH2_000025" "g.86086609G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86831606G>A" "" "VUS" "" "0000007251" "20" "50" "X" "86087385" "86087385" "subst" "0" "00037" "DACH2_000030" "g.86087385A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86832382A>T" "" "VUS" "" "0000009342" "20" "50" "X" "85560205" "85560205" "subst" "0" "00037" "DACH2_000036" "g.85560205A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86305202A>G" "" "VUS" "" "0000009343" "20" "50" "X" "85969403" "85969403" "subst" "0" "00037" "DACH2_000033" "g.85969403A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86714400A>C" "" "VUS" "" "0000009344" "20" "30" "X" "85994683" "85994683" "subst" "0" "00037" "DACH2_000003" "g.85994683G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86739680G>T" "" "likely benign" "" "0000009345" "0" "50" "X" "86068465" "86068465" "dup" "0" "00037" "DACH2_000006" "g.86068465dup" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86813462dup" "" "VUS" "" "0000009346" "20" "50" "X" "86071151" "86071151" "subst" "0.327537" "00037" "DACH2_000009" "g.86071151C>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86816148C>G" "" "VUS" "" "0000009347" "20" "50" "X" "86083044" "86083047" "del" "0" "00037" "DACH2_000014" "g.86083044_86083047del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86828041_86828044del" "" "VUS" "" "0000009348" "20" "50" "X" "86083760" "86083760" "subst" "0" "00037" "DACH2_000016" "g.86083760G>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86828757G>T" "" "VUS" "" "0000009349" "20" "50" "X" "86084856" "86084856" "subst" "0" "00037" "DACH2_000019" "g.86084856T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86829853T>C" "" "VUS" "" "0000009350" "20" "50" "X" "86085179" "86085179" "subst" "0" "00037" "DACH2_000022" "g.86085179G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86830176G>A" "" "VUS" "" "0000009351" "20" "50" "X" "86086609" "86086609" "subst" "0" "00037" "DACH2_000025" "g.86086609G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86831606G>A" "" "VUS" "" "0000009352" "20" "50" "X" "86086809" "86086810" "ins" "0" "00037" "DACH2_000028" "g.86086809_86086810insG" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86831806_86831807insG" "" "VUS" "" "0000009353" "20" "50" "X" "86087385" "86087385" "subst" "0" "00037" "DACH2_000030" "g.86087385A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86832382A>T" "" "VUS" "" "0000011067" "20" "50" "X" "86083039" "86083042" "del" "0" "00037" "DACH2_000039" "g.86083039_86083042del" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86828036_86828039del" "" "VUS" "" "0000015217" "20" "50" "X" "86067615" "86067615" "subst" "0" "00037" "DACH2_000004" "g.86067615G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86812612G>A" "" "VUS" "" "0000015218" "20" "50" "X" "86070055" "86070055" "subst" "0" "00037" "DACH2_000007" "g.86070055A>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.86815052A>T" "" "VUS" "" "0000072899" "21" "50" "X" "85950063" "85950063" "subst" "0" "01261" "DACH2_000005" "g.85950063C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.86695060C>G" "" "VUS" "" "0000254691" "0" "30" "X" "86069833" "86069833" "subst" "0.000352021" "01943" "DACH2_000043" "g.86069833A>C" "" "" "" "DACH2(NM_001139514.1):c.1641A>C (p.L547F, p.(Leu547Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86814830A>C" "" "likely benign" "" "0000334818" "0" "50" "X" "85769377" "85769377" "subst" "4.00928E-5" "01804" "DACH2_000040" "g.85769377G>A" "" "" "" "DACH2(NM_001139514.1):c.584G>A (p.(Gly195Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86514374G>A" "" "VUS" "" "0000334819" "0" "30" "X" "85906054" "85906054" "subst" "0.000652784" "01804" "DACH2_000041" "g.85906054C>T" "" "" "" "DACH2(NM_053281.3):c.656C>T (p.(Ala219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86651051C>T" "" "likely benign" "" "0000334820" "0" "50" "X" "86067863" "86067863" "subst" "0.0011583" "01804" "DACH2_000042" "g.86067863G>C" "" "" "" "DACH2(NM_001139514.1):c.1206G>C (p.(Glu402Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86812860G>C" "" "VUS" "" "0000334821" "0" "50" "X" "86069833" "86069833" "subst" "0.000352021" "01804" "DACH2_000043" "g.86069833A>C" "" "" "" "DACH2(NM_001139514.1):c.1641A>C (p.L547F, p.(Leu547Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86814830A>C" "" "VUS" "" "0000334822" "0" "50" "X" "86071084" "86071084" "subst" "5.11951E-5" "01804" "DACH2_000044" "g.86071084G>T" "" "" "" "DACH2(NM_001139514.1):c.1693G>T (p.(Asp565Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.86816081G>T" "" "VUS" "" "0000401015" "1" "50" "X" "86067886" "86067886" "subst" "8.57412E-5" "00124" "DACH2_000046" "g.86067886T>C" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "M423T" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.86812883T>C" "" "VUS" "" "0000401024" "1" "50" "X" "85994781" "85994781" "subst" "0" "00124" "DACH2_000045" "g.85994781C>T" "1/208 cases" "{PMID:Tarpey 2009:19377476}" "" "P379L" "found once, nonrecurrent change" "Germline" "" "" "0" "" "" "g.86739778C>T" "" "VUS" "" "0000577746" "0" "30" "X" "85403731" "85403731" "subst" "0.00108319" "01804" "DACH2_000047" "g.85403731C>T" "" "" "" "DACH2(NM_001139514.1):c.107C>T (p.(Pro36Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86148727C>T" "" "likely benign" "" "0000577749" "0" "30" "X" "85769337" "85769337" "subst" "1.69546E-5" "01804" "DACH2_000048" "g.85769337C>T" "" "" "" "DACH2(NM_001139514.1):c.544C>T (p.(Arg182Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86514334C>T" "" "likely benign" "" "0000577751" "0" "30" "X" "85950140" "85950140" "subst" "0" "01943" "DACH2_000050" "g.85950140C>A" "" "" "" "DACH2(NM_001139514.1):c.850C>A (p.P284T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86695137C>A" "" "likely benign" "" "0000619952" "0" "30" "X" "85404115" "85404115" "subst" "0" "01943" "DACH2_000052" "g.85404115G>A" "" "" "" "DACH2(NM_001139514.1):c.488+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.86149111G>A" "" "likely benign" "" "0000683656" "20" "30" "X" "85403751" "85403751" "subst" "8.96921E-5" "00006" "DACH2_000053" "g.85403751A>T" "" "{PMID:Shukla 2019:31247379}, {DOI:Shukla 2019:10.1016/j.ejmg.2019.103708}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely benign" "" "0000867606" "0" "30" "X" "85906136" "85906136" "subst" "3.43244E-5" "01943" "DACH2_000054" "g.85906136C>A" "" "" "" "DACH2(NM_001139514.1):c.699C>A (p.T233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000867607" "0" "30" "X" "86067936" "86067936" "subst" "3.99124E-5" "01943" "DACH2_000055" "g.86067936G>A" "" "" "" "DACH2(NM_001139514.1):c.1279G>A (p.A427T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001007002" "0" "50" "X" "86068191" "86068191" "subst" "0" "01804" "DACH2_000056" "g.86068191A>C" "" "" "" "DACH2(NM_053281.3):c.1448A>C (p.(Glu483Ala))" "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 DACH2 ## Count = 46 "{{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}}" "0000002043" "00000687" "50" "1751" "-4065" "1751" "-4062" "c.1751-4065_1751-4062del" "r.(=)" "p.(=)" "" "0000002044" "00000687" "50" "1751" "-300" "1751" "-299" "c.1751-300_1751-299insG" "r.(=)" "p.(=)" "" "0000003083" "00000687" "50" "1751" "-4070" "1751" "-4067" "c.1751-4070_1751-4067del" "r.(=)" "p.(=)" "" "0000007241" "00000687" "50" "489" "-71622" "489" "-71622" "c.489-71622A>G" "r.(=)" "p.(=)" "" "0000007242" "00000687" "50" "932" "-148" "932" "-148" "c.932-148A>C" "r.(=)" "p.(=)" "" "0000007243" "00000687" "30" "1105" "-67" "1105" "-67" "c.1105-67G>T" "r.(=)" "p.(=)" "6i" "0000007244" "00000687" "50" "1241" "-244" "1241" "-244" "c.1241-244G>A" "r.(=)" "p.(=)" "" "0000007245" "00000687" "50" "1684" "218" "1684" "218" "c.1684+218A>T" "r.(=)" "p.(=)" "" "0000007246" "00000687" "50" "1750" "49" "1750" "49" "c.1750+49C>G" "r.(=)" "p.(=)" "" "0000007247" "00000687" "50" "1751" "-3349" "1751" "-3349" "c.1751-3349G>T" "r.(=)" "p.(=)" "" "0000007248" "00000687" "50" "1751" "-2253" "1751" "-2253" "c.1751-2253T>C" "r.(=)" "p.(=)" "" "0000007249" "00000687" "50" "1751" "-1930" "1751" "-1930" "c.1751-1930G>A" "r.(=)" "p.(=)" "" "0000007250" "00000687" "50" "1751" "-500" "1751" "-500" "c.1751-500G>A" "r.(=)" "p.(=)" "" "0000007251" "00000687" "50" "2027" "0" "2027" "0" "c.*227A>T" "r.(=)" "p.(=)" "" "0000009342" "00000687" "50" "489" "-71622" "489" "-71622" "c.489-71622A>G" "r.(=)" "p.(=)" "" "0000009343" "00000687" "50" "932" "-148" "932" "-148" "c.932-148A>C" "r.(=)" "p.(=)" "" "0000009344" "00000687" "30" "1105" "-67" "1105" "-67" "c.1105-67G>T" "r.(=)" "p.(=)" "6i" "0000009345" "00000687" "50" "1537" "185" "1537" "185" "c.1537+185dup" "r.(=)" "p.(=)" "" "0000009346" "00000687" "50" "1750" "49" "1750" "49" "c.1750+49C>G" "r.(=)" "p.(=)" "" "0000009347" "00000687" "50" "1751" "-4065" "1751" "-4062" "c.1751-4065_1751-4062del" "r.(=)" "p.(=)" "" "0000009348" "00000687" "50" "1751" "-3349" "1751" "-3349" "c.1751-3349G>T" "r.(=)" "p.(=)" "" "0000009349" "00000687" "50" "1751" "-2253" "1751" "-2253" "c.1751-2253T>C" "r.(=)" "p.(=)" "" "0000009350" "00000687" "50" "1751" "-1930" "1751" "-1930" "c.1751-1930G>A" "r.(=)" "p.(=)" "" "0000009351" "00000687" "50" "1751" "-500" "1751" "-500" "c.1751-500G>A" "r.(=)" "p.(=)" "" "0000009352" "00000687" "50" "1751" "-300" "1751" "-299" "c.1751-300_1751-299insG" "r.(=)" "p.(=)" "" "0000009353" "00000687" "50" "2027" "0" "2027" "0" "c.*227A>T" "r.(=)" "p.(=)" "" "0000011067" "00000687" "50" "1751" "-4070" "1751" "-4067" "c.1751-4070_1751-4067del" "r.(=)" "p.(=)" "" "0000015217" "00000687" "50" "1241" "-244" "1241" "-244" "c.1241-244G>A" "r.(=)" "p.(=)" "" "0000015218" "00000687" "50" "1684" "218" "1684" "218" "c.1684+218A>T" "r.(=)" "p.(=)" "" "0000072899" "00000687" "50" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Ser271Cys)" "5" "0000254691" "00000687" "30" "1680" "0" "1680" "0" "c.1680A>C" "r.(?)" "p.(Leu560Phe)" "" "0000334818" "00000687" "50" "623" "0" "623" "0" "c.623G>A" "r.(?)" "p.(Gly208Glu)" "" "0000334819" "00000687" "30" "656" "0" "656" "0" "c.656C>T" "r.(?)" "p.(Ala219Val)" "" "0000334820" "00000687" "50" "1245" "0" "1245" "0" "c.1245G>C" "r.(?)" "p.(Glu415Asp)" "" "0000334821" "00000687" "50" "1680" "0" "1680" "0" "c.1680A>C" "r.(?)" "p.(Leu560Phe)" "" "0000334822" "00000687" "50" "1732" "0" "1732" "0" "c.1732G>T" "r.(?)" "p.(Asp578Tyr)" "" "0000401015" "00000687" "50" "1268" "0" "1268" "0" "c.1268T>C" "r.(?)" "p.(Met423Thr)" "8" "0000401024" "00000687" "50" "1136" "0" "1136" "0" "c.1136C>T" "r.(?)" "p.(Pro379Leu)" "7" "0000577746" "00000687" "30" "107" "0" "107" "0" "c.107C>T" "r.(?)" "p.(Pro36Leu)" "" "0000577749" "00000687" "30" "583" "0" "583" "0" "c.583C>T" "r.(?)" "p.(Arg195Cys)" "" "0000577751" "00000687" "30" "889" "0" "889" "0" "c.889C>A" "r.(?)" "p.(Pro297Thr)" "" "0000619952" "00000687" "30" "488" "3" "488" "3" "c.488+3G>A" "r.spl?" "p.?" "" "0000683656" "00000687" "30" "127" "0" "127" "0" "c.127A>T" "r.(?)" "p.(Ile43Phe)" "" "0000867606" "00000687" "30" "738" "0" "738" "0" "c.738C>A" "r.(?)" "p.(Thr246=)" "" "0000867607" "00000687" "30" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Ala440Thr)" "" "0001007002" "00000687" "50" "1448" "0" "1448" "0" "c.1448A>C" "r.(?)" "p.(Glu483Ala)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 33 "{{screeningid}}" "{{variantid}}" "0000000209" "0000002043" "0000000209" "0000002044" "0000000209" "0000003083" "0000000209" "0000007241" "0000000209" "0000007242" "0000000209" "0000007243" "0000000209" "0000007244" "0000000209" "0000007245" "0000000209" "0000007246" "0000000209" "0000007247" "0000000209" "0000007248" "0000000209" "0000007249" "0000000209" "0000007250" "0000000209" "0000007251" "0000000210" "0000009342" "0000000210" "0000009343" "0000000210" "0000009344" "0000000210" "0000009345" "0000000210" "0000009346" "0000000210" "0000009347" "0000000210" "0000009348" "0000000210" "0000009349" "0000000210" "0000009350" "0000000210" "0000009351" "0000000210" "0000009352" "0000000210" "0000009353" "0000000210" "0000011067" "0000000210" "0000015217" "0000000210" "0000015218" "0000045243" "0000072899" "0000174455" "0000401015" "0000174479" "0000401024" "0000227218" "0000683656"