### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH2) # 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}}" "DNAH2" "dynein, axonemal, heavy chain 2" "17" "p13.1" "unknown" "NC_000017.10" "UD_132378574150" "" "https://www.LOVD.nl/DNAH2" "" "1" "2948" "146754" "603333" "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/DNAH2_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2012-09-13 00:00:00" "00006" "2023-12-04 21:46:29" "00000" "2025-11-01 13:22:20" ## 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}}" "00001355" "DNAH2" "dynein, axonemal, heavy chain 2" "001" "NM_020877.2" "" "NP_065928.2" "" "" "" "-14" "13491" "13284" "7623039" "7737058" "00000" "2012-09-13 13:28:10" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00307" "HYDRO" "hydrocephaly (HYDRO)" "" "" "" "" "" "00006" "2014-01-19 12:32:13" "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" "05421" "microcephaly" "microcephaly" "" "" "" "" "" "00006" "2018-04-15 11:41:15" "" "" "05562" "SPGF" "spermatogenic failure (SPGF)" "" "" "" "" "" "00006" "2019-02-13 22:06:30" "" "" "06934" "SPGF45" "spermatogenic failure, type 45" "AR" "619094" "" "" "" "00006" "2022-04-14 21:18:24" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "DNAH2" "05562" "DNAH2" "06934" ## 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}}" "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" "" "" "" "" "00291867" "" "" "" "52" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374135" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "F" "" "France" "" "0" "" "" "" "" "00433327" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021:34402213}, {PMID:Jacquemin 2023:36859317}" "2-generation family, 1 affected, unaffected parents" "F" "no" "Belgium" "" "0" "" "" "" "PatD;Pat22" "00433330" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021:34402213}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Turkey" "" "0" "" "" "" "PatB" "00433331" "" "" "" "1" "" "00006" "{PMID:Duerinckx 2021:34402213}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Russia" "" "0" "" "" "" "PatC" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00000209" "01157" "00291867" "00198" "00374135" "00198" "00433327" "00307" "00433330" "05421" "00433331" "05421" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00307, 01157, 05421, 05562, 06934 ## Count = 6 "{{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}}" "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" "" "" "" "" "" "" "" "" "" "0000269346" "00198" "00374135" "00006" "Unknown" "<0d" "17w-fetus, ultrasound Hydrops, complex cardiopathy; autopsy Hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, common mesentery" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" "" "0000323848" "00307" "00433327" "00006" "Familial, autosomal recessive" "" "hydrocephaly; pear-shaped head; laterality defect; MRI enlarged lateral ventricles, hemicerebellum hyploplasia, small cerebellum, cortical atrophy, corpus callosum thin and stretched, globally smaller brain, cyst on midline (supra and infra tentoriel), encephalocele" "" "" "" "" "" "" "" "" "" "hydrocephaly" "" "0000323851" "05421" "00433330" "00006" "Familial, autosomal recessive" "" "primary microcephaly" "" "" "" "" "" "" "" "" "" "microcephaly" "" "0000323852" "05421" "00433331" "00006" "Familial, autosomal recessive" "" "primary microcephaly" "" "" "" "" "" "" "" "" "" "microcephaly" "" ## 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}}" "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" "" "" "0000293035" "00291867" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375328" "00374135" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES" "0000434781" "00433327" "1" "00006" "00006" "2023-03-04 19:42:22" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434784" "00433330" "1" "00006" "00006" "2023-03-05 15:26:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000434785" "00433331" "1" "00006" "00006" "2023-03-05 15:34:20" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000375328" "DNAH2" ## 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 = 33 "{{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}}" "0000005663" "3" "50" "17" "7697412" "7697412" "subst" "0" "00037" "DNAH2_000001" "g.7697412A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7794094A>G" "" "VUS" "" "0000013635" "3" "50" "17" "7697412" "7697412" "subst" "0" "00037" "DNAH2_000001" "g.7697412A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.7794094A>G" "" "VUS" "" "0000275270" "0" "30" "17" "7662200" "7662200" "subst" "4.06871E-6" "01943" "DNAH2_000002" "g.7662200T>C" "" "" "" "DNAH2(NM_020877.3):c.2209-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.7758882T>C" "" "likely benign" "" "0000563285" "0" "30" "17" "7626951" "7626951" "subst" "2.03036E-5" "01943" "DNAH2_000003" "g.7626951C>T" "" "" "" "DNAH2(NM_020877.3):c.172C>T (p.R58W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7723633C>T" "" "likely benign" "" "0000563305" "0" "30" "17" "7671259" "7671259" "subst" "0.00293224" "01804" "DNAH2_000004" "g.7671259C>A" "" "" "" "DNAH2(NM_020877.2):c.3717C>A (p.(Asp1239Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7767941C>A" "" "likely benign" "" "0000563306" "0" "30" "17" "7678085" "7678085" "subst" "0.0139704" "01804" "DNAH2_000005" "g.7678085G>A" "" "" "" "DNAH2(NM_020877.2):c.4510G>A (p.(Asp1504Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7774767G>A" "" "likely benign" "" "0000563310" "0" "30" "17" "7691263" "7691263" "subst" "0" "01943" "DNAH2_000007" "g.7691263C>T" "" "" "" "DNAH2(NM_020877.3):c.6689C>T (p.A2230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7787945C>T" "" "likely benign" "" "0000563316" "0" "50" "17" "7720010" "7720010" "subst" "0.000134007" "01943" "DNAH2_000008" "g.7720010C>T" "" "" "" "DNAH2(NM_020877.3):c.9851C>T (p.S3284L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7816692C>T" "" "VUS" "" "0000563317" "0" "50" "17" "7722533" "7722533" "subst" "0.000236303" "01943" "DNAH2_000009" "g.7722533C>T" "" "" "" "DNAH2(NM_020877.3):c.10822C>T (p.R3608C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7819215C>T" "" "VUS" "" "0000563319" "0" "50" "17" "7727161" "7727161" "subst" "0" "01943" "DNAH2_000011" "g.7727161A>G" "" "" "" "DNAH2(NM_020877.3):c.11339A>G (p.E3780G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.7823843A>G" "" "VUS" "" "0000649724" "1" "10" "17" "7734114" "7734114" "subst" "0.0248075" "03575" "DNAH2_000012" "g.7734114A>C" "52/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "52 heterozygous, no homozygous; {DB:CLININrs79350244}" "Germline" "" "rs79350244" "0" "" "" "g.7830796A>C" "" "benign" "" "0000726723" "0" "30" "17" "7660486" "7660486" "subst" "4.06095E-6" "01943" "DNAH2_000013" "g.7660486T>C" "" "" "" "DNAH2(NM_020877.3):c.1982T>C (p.V661A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000786669" "1" "70" "17" "7735080" "7735080" "del" "0" "00006" "DNAH2_000015" "g.7735080del" "" "{PMID:Lefebvre 2021:32732226}" "" "" "functional data: biallelic DNAH2 variants recently identified in multiple morphological anomalies of flagella; its homologous DNAH1 gene, initially also identified in morphological abnormalities of flagella, has also been described in two sisters with primary ciliary dyskinesia and situs inversus; ine match in a child, compound heterozygous for a missense and a frameshift, with heterotaxy and complex heart defect" "Germline" "" "" "0" "" "" "g.7831762del" "" "likely pathogenic" "" "0000786682" "2" "70" "17" "7662800" "7662800" "subst" "0.000186898" "00006" "DNAH2_000014" "g.7662800C>T" "" "{PMID:Lefebvre 2021:32732226}" "" "" "functional data: biallelic DNAH2 variants recently identified in multiple morphological anomalies of flagella; its homologous DNAH1 gene, initially also identified in morphological abnormalities of flagella, has also been described in two sisters with primary ciliary dyskinesia and situs inversus; ine match in a child, compound heterozygous for a missense and a frameshift, with heterotaxy and complex heart defect" "Germline" "" "" "0" "" "" "g.7759482C>T" "" "likely pathogenic" "" "0000865530" "0" "30" "17" "7701525" "7701525" "subst" "0.0175357" "01804" "DNAH2_000016" "g.7701525G>A" "" "" "" "DNAH2(NM_020877.2):c.8281G>A (p.(Val2761Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920652" "1" "70" "17" "7640439" "7640439" "subst" "8.12183E-6" "00006" "DNAH2_000017" "g.7640439C>A" "" "{PMID:Duerinckx 2021:34402213}, {PMID:Jacquemin 2023:36859317}" "" "2493C>A (Pro345Thr)" "candidate disease gene" "Germline" "" "" "0" "" "" "g.7737121C>A" "" "likely pathogenic (recessive)" "" "0000920653" "2" "70" "17" "7727196" "7727196" "subst" "2.03196E-5" "00006" "DNAH2_000018" "g.7727196G>A" "" "{PMID:Duerinckx 2021:34402213}, {PMID:Jacquemin 2023:36859317}" "" "12834G>A (Val3792Ile)" "candidate disease gene" "Germline" "" "" "0" "" "" "g.7823878G>A" "" "likely pathogenic (recessive)" "" "0000920657" "1" "90" "17" "7637602" "7637602" "subst" "4.2907E-5" "00006" "DNAH2_000019" "g.7637602C>T" "" "{PMID:Duerinckx 2021:34402213}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.7734284C>T" "" "likely pathogenic (!)" "" "0000920658" "2" "90" "17" "7683484" "7683484" "subst" "0" "00006" "DNAH2_000020" "g.7683484G>C" "" "{PMID:Duerinckx 2021:34402213}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.7780166G>C" "" "likely pathogenic (!)" "" "0000920659" "1" "90" "17" "7646342" "7646342" "subst" "5.79905E-6" "00006" "DNAH2_000021" "g.7646342C>T" "" "{PMID:Duerinckx 2021:34402213}" "" "" "candidate disease gene" "Germline" "" "" "0" "" "" "g.7743024C>T" "" "likely pathogenic (!)" "" "0000920660" "2" "90" "17" "7667491" "7667491" "subst" "0.000272112" "00006" "DNAH2_000022" "g.7667491A>G" "" "{PMID:Duerinckx 2021:34402213}" "" "" "candidate diseae gene" "Germline" "" "" "0" "" "" "g.7764173A>G" "" "likely pathogenic (!)" "" "0000951053" "0" "50" "17" "7678191" "7678191" "subst" "5.27884E-5" "02325" "DNAH2_000023" "g.7678191A>G" "" "" "" "DNAH2(NM_020877.5):c.4616A>G (p.N1539S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969244" "0" "50" "17" "7662422" "7662422" "subst" "3.65693E-5" "02325" "DNAH2_000024" "g.7662422T>G" "" "" "" "DNAH2(NM_020877.5):c.2428T>G (p.F810V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000969248" "0" "50" "17" "7722251" "7722251" "subst" "0.000495479" "02325" "DNAH2_000025" "g.7722251C>T" "" "" "" "DNAH2(NM_020877.5):c.10685C>T (p.A3562V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982828" "0" "30" "17" "7623073" "7623073" "subst" "0.000736797" "01804" "DNAH2_000026" "g.7623073G>A" "" "" "" "DNAH2(NM_020877.5):c.21G>A (p.(Lys7=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982830" "0" "50" "17" "7644301" "7644302" "del" "0" "01804" "DNAH2_000027" "g.7644301_7644302del" "" "" "" "DNAH2(NM_020877.5):c.1680_1681del (p.(Arg560SerfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982831" "0" "30" "17" "7646606" "7646606" "del" "0" "01804" "DNAH2_000028" "g.7646606del" "" "" "" "DNAH2(NM_001303270.2):c.2296del (p.(Ser766LeufsTer31))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982836" "0" "30" "17" "7664260" "7664276" "del" "0" "01804" "DNAH2_000029" "g.7664260_7664276del" "" "" "" "DNAH2(NM_020877.5):c.2978+10_2978+26del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982837" "0" "30" "17" "7667554" "7667554" "subst" "0.00163879" "01804" "DNAH2_000030" "g.7667554C>T" "" "" "" "DNAH2(NM_020877.5):c.3299C>T (p.(Ala1100Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003722" "0" "50" "17" "7671254" "7671254" "subst" "8.12288E-6" "01804" "DNAH2_000031" "g.7671254C>T" "" "" "" "DNAH2(NM_020877.2):c.3712C>T (p.(Arg1238*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042208" "0" "50" "17" "7724673" "7724673" "subst" "0" "01804" "DNAH2_000032" "g.7724673C>T" "" "" "" "DNAH2(NM_020877.5):c.11128C>T (p.(Leu3710=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055817" "0" "50" "17" "7680846" "7680846" "subst" "1.21819E-5" "01804" "DNAH2_000033" "g.7680846C>T" "" "" "" "DNAH2(NM_020877.5):c.5141C>T (p.(Thr1714Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001055818" "0" "50" "17" "7681747" "7681747" "subst" "0" "01804" "DNAH2_000034" "g.7681747A>G" "" "" "" "DNAH2(NM_020877.5):c.5501A>G (p.(Asp1834Gly))" "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 DNAH2 ## Count = 33 "{{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}}" "0000005663" "00001355" "50" "7570" "-160" "7570" "-160" "c.7570-160A>G" "r.(=)" "p.(=)" "" "0000013635" "00001355" "50" "7570" "-160" "7570" "-160" "c.7570-160A>G" "r.(=)" "p.(=)" "" "0000275270" "00001355" "30" "2209" "-3" "2209" "-3" "c.2209-3T>C" "r.spl?" "p.?" "" "0000563285" "00001355" "30" "172" "0" "172" "0" "c.172C>T" "r.(?)" "p.(Arg58Trp)" "" "0000563305" "00001355" "30" "3717" "0" "3717" "0" "c.3717C>A" "r.(?)" "p.(Asp1239Glu)" "" "0000563306" "00001355" "30" "4510" "0" "4510" "0" "c.4510G>A" "r.(?)" "p.(Asp1504Asn)" "" "0000563310" "00001355" "30" "6689" "0" "6689" "0" "c.6689C>T" "r.(?)" "p.(Ala2230Val)" "" "0000563316" "00001355" "50" "9851" "0" "9851" "0" "c.9851C>T" "r.(?)" "p.(Ser3284Leu)" "" "0000563317" "00001355" "50" "10822" "0" "10822" "0" "c.10822C>T" "r.(?)" "p.(Arg3608Cys)" "" "0000563319" "00001355" "50" "11339" "0" "11339" "0" "c.11339A>G" "r.(?)" "p.(Glu3780Gly)" "" "0000649724" "00001355" "10" "12184" "0" "12184" "0" "c.12184A>C" "r.(?)" "p.(Ile4062Leu)" "" "0000726723" "00001355" "30" "1982" "0" "1982" "0" "c.1982T>C" "r.(?)" "p.(Val661Ala)" "" "0000786669" "00001355" "70" "12713" "0" "12713" "0" "c.12713delC" "r.(?)" "p.(Pro4238ArgfsTer38)" "" "0000786682" "00001355" "70" "2509" "0" "2509" "0" "c.2509C>T" "r.(?)" "p.(Arg837Cys)" "" "0000865530" "00001355" "30" "8281" "0" "8281" "0" "c.8281G>A" "r.(?)" "p.(Val2761Met)" "" "0000920652" "00001355" "70" "1033" "0" "1033" "0" "c.1033C>A" "r.(?)" "p.(Pro345Thr)" "" "0000920653" "00001355" "70" "11374" "0" "11374" "0" "c.11374G>A" "r.(?)" "p.(Val3792Ile)" "" "0000920657" "00001355" "90" "730" "0" "730" "0" "c.730C>T" "r.(?)" "p.(Arg244Trp)" "" "0000920658" "00001355" "90" "5732" "0" "5732" "0" "c.5732G>C" "r.(?)" "p.(Gly1911Ala)" "" "0000920659" "00001355" "90" "1786" "0" "1786" "0" "c.1786C>T" "r.(?)" "p.(Arg596*)" "" "0000920660" "00001355" "90" "3236" "0" "3236" "0" "c.3236A>G" "r.(?)" "p.(Asp1079Gly)" "" "0000951053" "00001355" "50" "4616" "0" "4616" "0" "c.4616A>G" "r.(?)" "p.(Asn1539Ser)" "" "0000969244" "00001355" "50" "2428" "0" "2428" "0" "c.2428T>G" "r.(?)" "p.(Phe810Val)" "" "0000969248" "00001355" "50" "10685" "0" "10685" "0" "c.10685C>T" "r.(?)" "p.(Ala3562Val)" "" "0000982828" "00001355" "30" "21" "0" "21" "0" "c.21G>A" "r.(?)" "p.(=)" "" "0000982830" "00001355" "50" "1680" "0" "1681" "0" "c.1680_1681del" "r.(?)" "p.(Arg560Serfs*32)" "" "0000982831" "00001355" "30" "1904" "146" "1904" "146" "c.1904+146del" "r.(=)" "p.(=)" "" "0000982836" "00001355" "30" "2978" "10" "2978" "26" "c.2978+10_2978+26del" "r.(=)" "p.(=)" "" "0000982837" "00001355" "30" "3299" "0" "3299" "0" "c.3299C>T" "r.(?)" "p.(Ala1100Val)" "" "0001003722" "00001355" "50" "3712" "0" "3712" "0" "c.3712C>T" "r.(?)" "p.(Arg1238*)" "" "0001042208" "00001355" "50" "11128" "0" "11128" "0" "c.11128C>T" "r.(?)" "p.(=)" "" "0001055817" "00001355" "50" "5141" "0" "5141" "0" "c.5141C>T" "r.(?)" "p.(Thr1714Met)" "" "0001055818" "00001355" "50" "5501" "0" "5501" "0" "c.5501A>G" "r.(?)" "p.(Asp1834Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 11 "{{screeningid}}" "{{variantid}}" "0000000209" "0000005663" "0000000210" "0000013635" "0000293035" "0000649724" "0000375328" "0000786669" "0000375328" "0000786682" "0000434781" "0000920652" "0000434781" "0000920653" "0000434784" "0000920657" "0000434784" "0000920658" "0000434785" "0000920659" "0000434785" "0000920660"