### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH17) # 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}}" "DNAH17" "dynein, axonemal, heavy chain 17" "17" "q25.3" "unknown" "NC_000017.10" "UD_136018037187" "" "https://www.LOVD.nl/DNAH17" "" "1" "2946" "8632" "610063" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-06-19 12:28:13" "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}}" "00006528" "DNAH17" "dynein, axonemal, heavy chain 17" "001" "NM_173628.3" "" "NP_775899.3" "" "" "" "-125" "13598" "13389" "76573476" "76419778" "" "0000-00-00 00:00:00" "" "" ## 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}}" "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" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "06384" "SPGF39" "Spermatogenic failure 39" "AR" "618643" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAH17" "06384" ## Individuals ## Do not remove or alter this header ## ## Count = 8 "{{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}}" "00230656" "" "" "" "1" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "France;Italy" "18GM00285" "00230657" "" "" "" "2" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "Algeria" "18GM01974" "00230658" "" "" "" "1" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "Morocco" "18GM01932" "00230659" "" "" "" "1" "" "01543" "{PMID:Whitfield 2019:31178125}" "2-generation family, 1 affected" "M" "no" "France" "" "0" "" "" "" "18GM01926" "00240387" "" "" "" "1" "" "00006" "{PMID:Whitfield 2019:31178125}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "Morocco" "" "0" "" "" "" "Fam3Pat18GM01932" "00291865" "" "" "" "45" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00407819" "" "" "" "1" "" "00006" "{PMID:Oud 2020:31985809}" "" "" "" "France" "" "0" "" "" "" "PatGL-3" "00438662" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSJ0515" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 8 "{{individualid}}" "{{diseaseid}}" "00230656" "00201" "00230657" "00201" "00230658" "00201" "00230659" "00201" "00240387" "00332" "00291865" "00198" "00407819" "00201" "00438662" "06906" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 00332, 06384, 06906 ## Count = 7 "{{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}}" "0000173136" "00201" "00230656" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "" "" "" "" "" "male infertility" "male infertility" "" "0000173137" "00201" "00230657" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "" "" "" "" "" "male infertility" "male infertility" "" "0000173138" "00201" "00230658" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "Protein absent" "" "" "" "" "male infertility" "male infertility" "" "0000173141" "00201" "00230659" "01543" "Familial, autosomal recessive" "" "Absence of outer dynein arms in spermatozoa" "" "" "" "Absence of protiein" "" "" "" "" "male infertility" "male infertility" "" "0000180452" "00332" "00240387" "00006" "Familial, autosomal recessive" "" "see paper; ..., asthenozoospermia" "" "" "" "" "" "" "" "" "" "male infertility" "" "0000299949" "00201" "00407819" "00006" "Unknown" "" "see paper; ..., globozoospermia" "" "" "" "" "" "" "" "" "" "globozoospermia" "" "0000328565" "06906" "00438662" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" ## Screenings ## Do not remove or alter this header ## ## Count = 8 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000231752" "00230656" "1" "01543" "01543" "2019-04-19 11:09:54" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000231753" "00230657" "1" "01543" "01543" "2019-04-19 11:39:14" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000231754" "00230658" "1" "01543" "01543" "2019-04-19 11:47:59" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000231755" "00230659" "1" "01543" "01543" "2019-04-19 12:03:53" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000241497" "00240387" "1" "00006" "00006" "2019-06-19 12:49:58" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000293033" "00291865" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000409071" "00407819" "1" "00006" "00006" "2022-04-08 20:33:10" "00006" "2022-04-08 20:34:51" "SEQ;SEQ-NG" "DNA" "" "WES" "0000440144" "00438662" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000231752" "DNAH17" "0000231753" "DNAH17" "0000231754" "DNAH17" "0000231755" "DNAH17" "0000241497" "DNAH17" ## 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 = 124 "{{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}}" "0000253635" "0" "10" "17" "76568881" "76568881" "subst" "0.00887254" "01943" "DNAH17_000030" "g.76568881A>G" "" "" "" "DNAH17(NM_173628.3):c.441T>C (p.N147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78572799A>G" "" "benign" "" "0000275254" "0" "30" "17" "76446411" "76446411" "subst" "0.00085309" "01943" "DNAH17_000012" "g.76446411C>T" "" "" "" "DNAH17(NM_173628.3):c.10965G>A (p.A3655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78450329C>T" "" "likely benign" "" "0000275255" "0" "30" "17" "76440823" "76440823" "subst" "8.50941E-6" "01943" "DNAH17_000011" "g.76440823G>A" "" "" "" "DNAH17(NM_173628.3):c.11391C>T (p.A3797=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78444741G>A" "" "likely benign" "" "0000275256" "0" "30" "17" "76433738" "76433738" "subst" "0.000984659" "01943" "DNAH17_000008" "g.76433738C>T" "" "" "" "DNAH17(NM_173628.3):c.12018G>A (p.L4006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78437656C>T" "" "likely benign" "" "0000275257" "0" "30" "17" "76430143" "76430143" "subst" "3.66217E-5" "01943" "DNAH17_000007" "g.76430143G>A" "" "" "" "DNAH17(NM_173628.3):c.12192C>T (p.N4064=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78434062G>A" "" "likely benign" "" "0000275258" "0" "30" "17" "76425235" "76425235" "subst" "0.00034588" "01943" "DNAH17_000004" "g.76425235G>A" "" "" "" "DNAH17(NM_173628.3):c.12372C>T (p.P4124=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78429154G>A" "" "likely benign" "" "0000275259" "0" "50" "17" "76420193" "76420193" "subst" "0.000744127" "01943" "DNAH17_000002" "g.76420193G>A" "" "" "" "DNAH17(NM_173628.3):c.13183C>T (p.R4395W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78424112G>A" "" "VUS" "" "0000275260" "0" "50" "17" "76420030" "76420030" "subst" "9.35659E-5" "01943" "DNAH17_000001" "g.76420030G>A" "" "" "" "DNAH17(NM_173628.3):c.13346C>T (p.A4449V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78423949G>A" "" "VUS" "" "0000275261" "0" "10" "17" "76556982" "76556982" "subst" "0.00172063" "01943" "DNAH17_000029" "g.76556982T>C" "" "" "" "DNAH17(NM_173628.3):c.1871A>G (p.Q624R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78560900T>C" "" "benign" "" "0000275262" "0" "30" "17" "76548775" "76548775" "subst" "0.00119805" "01943" "DNAH17_000028" "g.76548775G>A" "" "" "" "DNAH17(NM_173628.3):c.2287+4C>T, DNAH17(NM_173628.4):c.2287+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78552693G>A" "" "likely benign" "" "0000275263" "0" "10" "17" "76528559" "76528559" "subst" "0.00198789" "01943" "DNAH17_000027" "g.76528559C>T" "" "" "" "DNAH17(NM_173628.3):c.3114+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78532477C>T" "" "benign" "" "0000275264" "0" "50" "17" "76521134" "76521134" "subst" "0.00174845" "01943" "DNAH17_000026" "g.76521134C>T" "" "" "" "DNAH17(NM_173628.3):c.3821G>A (p.R1274Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78525052C>T" "" "VUS" "" "0000275265" "0" "30" "17" "76491161" "76491161" "subst" "0.000261908" "01943" "DNAH17_000025" "g.76491161G>A" "" "" "" "DNAH17(NM_173628.3):c.5922C>T (p.V1974=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78495079G>A" "" "likely benign" "" "0000275266" "0" "50" "17" "76490695" "76490695" "subst" "0.000134137" "01943" "DNAH17_000024" "g.76490695G>A" "" "" "" "DNAH17(NM_173628.3):c.6250C>T (p.R2084W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78494613G>A" "" "VUS" "" "0000275267" "0" "30" "17" "76488794" "76488794" "subst" "0.00625143" "01943" "DNAH17_000023" "g.76488794G>A" "" "" "" "DNAH17(NM_173628.3):c.6462C>T (p.A2154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78492712G>A" "" "likely benign" "" "0000275268" "0" "30" "17" "76472676" "76472676" "subst" "1.66276E-5" "01943" "DNAH17_000019" "g.76472676G>A" "" "" "" "DNAH17(NM_173628.3):c.8132C>T (p.A2711V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78476594G>A" "" "likely benign" "" "0000275269" "0" "50" "17" "76459051" "76459051" "subst" "1.21818E-5" "01943" "DNAH17_000018" "g.76459051G>T" "" "" "" "DNAH17(NM_173628.3):c.9049C>A (p.P3017T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78462969G>T" "" "VUS" "" "0000305518" "0" "30" "17" "76399938" "76399938" "subst" "0" "01943" "PGS1_000001" "g.76399938C>T" "" "" "" "PGS1(NM_024419.5):c.1170C>T (p.N390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78403857C>T" "" "likely benign" "" "0000325657" "0" "50" "17" "76425218" "76425218" "subst" "0.000839104" "01804" "DNAH17_000003" "g.76425218G>C" "" "" "" "DNAH17(NM_173628.3):c.12389C>G (p.(Pro4130Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78429137G>C" "" "VUS" "" "0000325658" "0" "50" "17" "76425340" "76425340" "subst" "0.000690451" "01804" "DNAH17_000005" "g.76425340C>T" "" "" "" "DNAH17(NM_173628.3):c.12267G>A (p.(Met4089Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78429259C>T" "" "VUS" "" "0000325662" "0" "50" "17" "76446476" "76446476" "subst" "4.06818E-6" "01804" "DNAH17_000013" "g.76446476C>T" "" "" "" "DNAH17(NM_173628.3):c.10900G>A (p.(Val3634Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78450394C>T" "" "VUS" "" "0000325663" "0" "50" "17" "76447713" "76447713" "subst" "0.000787974" "01804" "DNAH17_000014" "g.76447713C>A" "" "" "" "DNAH17(NM_173628.3):c.10572G>T (p.(Lys3524Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78451631C>A" "" "VUS" "" "0000325664" "0" "50" "17" "76449418" "76449420" "del" "0" "01804" "DNAH17_000015" "g.76449418_76449420del" "" "" "" "DNAH17(NM_173628.3):c.10529+8_10529+10del (p.(=)), DNAH17(NM_173628.3):c.10529+8_10529+10delGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78453336_78453338del" "" "VUS" "" "0000325665" "0" "50" "17" "76455129" "76455129" "subst" "2.43657E-5" "01804" "DNAH17_000016" "g.76455129A>T" "" "" "" "DNAH17(NM_173628.3):c.9815T>A (p.(Leu3272Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78459047A>T" "" "VUS" "" "0000325666" "0" "50" "17" "76457643" "76457643" "subst" "0.000922186" "01804" "DNAH17_000017" "g.76457643C>T" "" "" "" "DNAH17(NM_173628.3):c.9322G>A (p.(Val3108Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78461561C>T" "" "VUS" "" "0000325667" "0" "30" "17" "76476873" "76476873" "subst" "0.000120602" "01804" "DNAH17_000020" "g.76476873G>A" "" "" "" "DNAH17(NM_173628.3):c.7650-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78480791G>A" "" "likely benign" "" "0000325668" "0" "30" "17" "76487518" "76487518" "subst" "5.78967E-5" "01804" "DNAH17_000021" "g.76487518C>T" "" "" "" "DNAH17(NM_173628.3):c.6669+7G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78491436C>T" "" "likely benign" "" "0000348440" "0" "50" "17" "76425221" "76425221" "subst" "0" "02327" "DNAH17_000031" "g.76425221G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78429140G>A" "" "VUS" "" "0000349479" "0" "50" "17" "76445503" "76445503" "subst" "6.58571E-5" "02327" "DNAH17_000032" "g.76445503G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.78449421G>A" "" "VUS" "" "0000473833" "2" "70" "17" "76563241" "76563242" "del" "0" "01543" "DNAH17_000034" "g.76563241_76563242del" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78567159_78567160del" "" "likely pathogenic (recessive)" "" "0000473834" "1" "90" "17" "76472796" "76472814" "del" "0" "01543" "DNAH17_000033" "g.76472796_76472814del" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78476714_78476732del" "" "likely pathogenic (recessive)" "" "0000473835" "3" "70" "17" "76496541" "76496541" "subst" "0" "01543" "DNAH17_000035" "g.76496541C>T" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78500459C>T" "" "likely pathogenic (recessive)" "" "0000473837" "3" "70" "17" "76449458" "76449458" "subst" "0" "01543" "DNAH17_000037" "g.76449458G>A" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78453376G>A" "" "VUS" "" "0000473838" "3" "90" "17" "76446879" "76446879" "subst" "0" "01543" "DNAH17_000036" "g.76446879A>G" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "yes" "" "0" "" "" "g.78450797A>G" "" "likely pathogenic (recessive)" "" "0000473840" "0" "90" "17" "76449457" "76449468" "dup" "0" "01543" "DNAH17_000038" "g.76449457_76449468dup" "" "{PMID:Whitfield 2019:31178125}" "" "" "unknown variant 2nd chromosome" "Germline/De novo (untested)" "?" "" "0" "" "" "g.78453375_78453386dup" "" "likely pathogenic (recessive)" "" "0000487478" "3" "50" "17" "76449458" "76449458" "subst" "0" "00006" "DNAH17_000037" "g.76449458G>A" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.78453376G>A" "" "VUS" "" "0000487479" "3" "70" "17" "76446879" "76446879" "subst" "0" "00006" "DNAH17_000036" "g.76446879A>G" "" "{PMID:Whitfield 2019:31178125}" "" "" "" "Germline" "" "" "0" "" "" "g.78450797A>G" "" "likely pathogenic (recessive)" "" "0000563286" "0" "50" "17" "76420174" "76420174" "subst" "0.000155293" "01943" "DNAH17_000039" "g.76420174G>A" "" "" "" "DNAH17(NM_173628.3):c.13202C>T (p.P4401L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78424093G>A" "" "VUS" "" "0000563287" "0" "50" "17" "76423042" "76423042" "subst" "0.000142162" "01943" "DNAH17_000040" "g.76423042G>A" "" "" "" "DNAH17(NM_173628.3):c.12736C>T (p.R4246C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78426961G>A" "" "VUS" "" "0000563288" "0" "30" "17" "76433955" "76433955" "subst" "0.00204925" "01804" "DNAH17_000041" "g.76433955A>G" "" "" "" "DNAH17(NM_173628.3):c.11806-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78437873A>G" "" "likely benign" "" "0000563290" "0" "50" "17" "76450700" "76450700" "subst" "5.29398E-5" "01943" "DNAH17_000043" "g.76450700G>A" "" "" "" "DNAH17(NM_173628.3):c.10258C>T (p.P3420S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78454618G>A" "" "VUS" "" "0000563291" "0" "30" "17" "76457704" "76457704" "subst" "0.000141712" "01943" "DNAH17_000044" "g.76457704G>A" "" "" "" "DNAH17(NM_173628.3):c.9261C>T (p.V3087=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78461622G>A" "" "likely benign" "" "0000563292" "0" "30" "17" "76464971" "76464971" "subst" "0.00278201" "01804" "DNAH17_000045" "g.76464971C>T" "" "" "" "DNAH17(NM_173628.3):c.8512-6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78468889C>T" "" "likely benign" "" "0000563293" "0" "30" "17" "76475198" "76475198" "subst" "0.000650899" "01804" "DNAH17_000046" "g.76475198G>A" "" "" "" "DNAH17(NM_173628.3):c.7901C>T (p.(Ala2634Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78479116G>A" "" "likely benign" "" "0000563294" "0" "30" "17" "76487521" "76487521" "subst" "0.000222433" "01943" "DNAH17_000047" "g.76487521G>A" "" "" "" "DNAH17(NM_173628.3):c.6669+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78491439G>A" "" "likely benign" "" "0000563295" "0" "50" "17" "76503583" "76503583" "subst" "5.6868E-5" "01943" "DNAH17_000048" "g.76503583G>A" "" "" "" "DNAH17(NM_173628.3):c.4541C>T (p.P1514L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78507501G>A" "" "VUS" "" "0000563299" "0" "30" "17" "76556989" "76556989" "subst" "0.00026008" "01943" "DNAH17_000051" "g.76556989T>C" "" "" "" "DNAH17(NM_173628.3):c.1864A>G (p.T622A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78560907T>C" "" "likely benign" "" "0000563301" "0" "30" "17" "76567122" "76567122" "subst" "0.00143678" "01804" "DNAH17_000053" "g.76567122G>A" "" "" "" "DNAH17(NM_173628.3):c.833-7C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78571040G>A" "" "likely benign" "" "0000563302" "0" "30" "17" "76568929" "76568929" "subst" "0.000268195" "01943" "DNAH17_000054" "g.76568929G>C" "" "" "" "DNAH17(NM_173628.3):c.393C>G (p.P131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78572847G>C" "" "likely benign" "" "0000563303" "0" "30" "17" "76570808" "76570808" "subst" "0.000148481" "01943" "DNAH17_000055" "g.76570808G>T" "" "" "" "DNAH17(NM_173628.3):c.332C>A (p.A111E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78574726G>T" "" "likely benign" "" "0000563304" "0" "30" "17" "76570996" "76570996" "subst" "0" "01943" "DNAH17_000056" "g.76570996G>T" "" "" "" "DNAH17(NM_173628.3):c.144C>A (p.D48E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78574914G>T" "" "likely benign" "" "0000616858" "0" "30" "17" "76394393" "76394393" "subst" "0" "01943" "DNAH17_000057" "g.76394393A>C" "" "" "" "PGS1(NM_024419.5):c.472A>C (p.K158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78398312A>C" "" "likely benign" "" "0000616859" "0" "50" "17" "76425370" "76425370" "subst" "0.000284673" "01943" "DNAH17_000006" "g.76425370G>T" "" "" "" "DNAH17(NM_173628.3):c.12237C>A (p.D4079E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78429289G>T" "" "VUS" "" "0000616860" "0" "30" "17" "76435298" "76435298" "subst" "0.000990488" "01804" "DNAH17_000059" "g.76435298T>C" "" "" "" "DNAH17(NM_173628.3):c.11679A>G (p.G3893=, p.(Gly3893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78439216T>C" "" "likely benign" "" "0000616861" "0" "50" "17" "76472719" "76472719" "subst" "0.00406735" "01943" "DNAH17_000061" "g.76472719C>T" "" "" "" "DNAH17(NM_173628.3):c.8089G>A (p.V2697I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78476637C>T" "" "VUS" "" "0000623774" "0" "30" "17" "76420098" "76420098" "subst" "0.00355587" "01943" "DNAH17_000058" "g.76420098C>A" "" "" "" "DNAH17(NM_173628.3):c.13278G>T (p.V4426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78424017C>A" "" "likely benign" "" "0000623775" "0" "30" "17" "76457728" "76457728" "subst" "3.29538E-5" "01943" "DNAH17_000060" "g.76457728G>A" "" "" "" "DNAH17(NM_173628.3):c.9237C>T (p.S3079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78461646G>A" "" "likely benign" "" "0000623776" "0" "30" "17" "76523070" "76523070" "subst" "0" "01943" "DNAH17_000062" "g.76523070C>T" "" "" "" "DNAH17(NM_173628.3):c.3516G>A (p.P1172=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78526988C>T" "" "likely benign" "" "0000649722" "1" "30" "17" "76422599" "76422599" "subst" "0.0234495" "03575" "DNAH17_000063" "g.76422599C>T" "45/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "45 heterozygous, no homozygous; {DB:CLININrs35973257}" "Germline" "" "rs35973257" "0" "" "" "g.78426518C>T" "" "likely benign" "" "0000658273" "0" "30" "17" "76446435" "76446435" "subst" "0.000113771" "01943" "DNAH17_000064" "g.76446435C>T" "" "" "" "DNAH17(NM_173628.3):c.10941G>A (p.A3647=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78450353C>T" "" "likely benign" "" "0000658274" "0" "30" "17" "76490147" "76490147" "subst" "0.00128912" "01943" "DNAH17_000065" "g.76490147C>T" "" "" "" "DNAH17(NM_173628.3):c.6379G>A (p.V2127I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78494065C>T" "" "likely benign" "" "0000658275" "0" "30" "17" "76521225" "76521225" "subst" "0.000179141" "01943" "DNAH17_000066" "g.76521225C>T" "" "" "" "DNAH17(NM_173628.3):c.3730G>A (p.A1244T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78525143C>T" "" "likely benign" "" "0000658276" "0" "30" "17" "76522783" "76522783" "subst" "2.03932E-5" "01943" "DNAH17_000067" "g.76522783C>T" "" "" "" "DNAH17(NM_173628.3):c.3661G>A (p.E1221K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78526701C>T" "" "likely benign" "" "0000658277" "0" "30" "17" "76522784" "76522784" "subst" "4.08257E-6" "01943" "DNAH17_000068" "g.76522784G>C" "" "" "" "DNAH17(NM_173628.3):c.3660C>G (p.R1220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.78526702G>C" "" "likely benign" "" "0000681045" "0" "30" "17" "76476820" "76476820" "subst" "6.90849E-5" "01943" "DNAH17_000069" "g.76476820G>A" "" "" "" "DNAH17(NM_173628.3):c.7698C>T (p.Y2566=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000681046" "0" "50" "17" "76487555" "76487555" "subst" "0" "01804" "DNAH17_000070" "g.76487555C>G" "" "" "" "DNAH17(NM_173628.3):c.6639G>C (p.(Glu2213Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726709" "0" "30" "17" "76449418" "76449420" "del" "0" "01943" "DNAH17_000015" "g.76449418_76449420del" "" "" "" "DNAH17(NM_173628.3):c.10529+8_10529+10del (p.(=)), DNAH17(NM_173628.3):c.10529+8_10529+10delGTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726710" "0" "30" "17" "76450635" "76450635" "subst" "0.000138332" "01943" "DNAH17_000071" "g.76450635G>A" "" "" "" "DNAH17(NM_173628.3):c.10323C>T (p.I3441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726711" "0" "30" "17" "76471826" "76471826" "subst" "0.0012714" "01943" "DNAH17_000072" "g.76471826G>A" "" "" "" "DNAH17(NM_173628.3):c.8244C>T (p.T2748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726712" "0" "50" "17" "76482527" "76482527" "subst" "5.69652E-5" "01943" "DNAH17_000073" "g.76482527G>T" "" "" "" "DNAH17(NM_173628.3):c.6880C>A (p.L2294I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726713" "0" "50" "17" "76490682" "76490682" "subst" "4.06683E-5" "01943" "DNAH17_000074" "g.76490682A>C" "" "" "" "DNAH17(NM_173628.3):c.6263T>G (p.F2088C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726714" "0" "50" "17" "76502807" "76502807" "subst" "0.000333019" "01943" "DNAH17_000075" "g.76502807C>A" "" "" "" "DNAH17(NM_173628.3):c.4798G>T (p.V1600L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726715" "0" "50" "17" "76510927" "76510927" "subst" "0.00200242" "01943" "DNAH17_000076" "g.76510927G>A" "" "" "" "DNAH17(NM_173628.3):c.4042C>T (p.R1348C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726716" "0" "30" "17" "76510934" "76510934" "subst" "8.12209E-6" "01943" "DNAH17_000077" "g.76510934C>T" "" "" "" "DNAH17(NM_173628.3):c.4035G>A (p.T1345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726717" "0" "50" "17" "76526587" "76526587" "subst" "0.000107072" "01943" "DNAH17_000078" "g.76526587G>T" "" "" "" "DNAH17(NM_173628.3):c.3122C>A (p.S1041Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726718" "0" "30" "17" "76528557" "76528557" "subst" "5.04189E-5" "01943" "DNAH17_000079" "g.76528557C>T" "" "" "" "DNAH17(NM_173628.3):c.3114+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726719" "0" "50" "17" "76533410" "76533410" "subst" "0.00154434" "01943" "DNAH17_000080" "g.76533410G>A" "" "" "" "DNAH17(NM_173628.3):c.2830C>T (p.R944W), DNAH17(NM_173628.4):c.2830C>T (p.R944W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000726720" "0" "30" "17" "76567741" "76567741" "subst" "0" "01943" "DNAH17_000081" "g.76567741G>A" "" "" "" "DNAH17(NM_173628.3):c.663C>T (p.H221=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726721" "0" "30" "17" "76571122" "76571122" "subst" "0.0002732" "01943" "DNAH17_000082" "g.76571122G>A" "" "" "" "DNAH17(NM_173628.3):c.18C>T (p.D6=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726722" "0" "30" "17" "76573370" "76573370" "subst" "0" "01943" "DNAH17_000083" "g.76573370C>T" "" "" "" "DNAH17(NM_173628.3):c.-26+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808285" "0" "50" "17" "76422680" "76422680" "subst" "0" "01943" "DNAH17_000084" "g.76422680C>T" "" "" "" "DNAH17(NM_173628.3):c.12773G>A (p.G4258E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808286" "0" "30" "17" "76424681" "76424681" "subst" "1.21825E-5" "01943" "DNAH17_000085" "g.76424681C>T" "" "" "" "DNAH17(NM_173628.3):c.12513G>A (p.L4171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808287" "0" "50" "17" "76433769" "76433769" "subst" "3.68228E-5" "01943" "DNAH17_000086" "g.76433769G>A" "" "" "" "DNAH17(NM_173628.3):c.11987C>T (p.T3996M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808288" "0" "30" "17" "76435298" "76435298" "subst" "0.000990488" "01943" "DNAH17_000059" "g.76435298T>C" "" "" "" "DNAH17(NM_173628.3):c.11679A>G (p.G3893=, p.(Gly3893=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808289" "0" "30" "17" "76441769" "76441769" "subst" "0.000347021" "01943" "DNAH17_000087" "g.76441769G>A" "" "" "" "DNAH17(NM_173628.3):c.11212-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808290" "0" "30" "17" "76446842" "76446842" "subst" "0.000341142" "01943" "DNAH17_000088" "g.76446842C>T" "" "" "" "DNAH17(NM_173628.3):c.10821G>A (p.S3607=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808291" "0" "50" "17" "76446858" "76446858" "subst" "0.000109644" "01943" "DNAH17_000089" "g.76446858C>A" "" "" "" "DNAH17(NM_173628.3):c.10805G>T (p.R3602L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808292" "0" "30" "17" "76451928" "76451928" "subst" "0.00012347" "01943" "DNAH17_000090" "g.76451928G>T" "" "" "" "DNAH17(NM_173628.3):c.9978-10C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808293" "0" "30" "17" "76475640" "76475640" "subst" "9.35476E-5" "01943" "DNAH17_000091" "g.76475640C>T" "" "" "" "DNAH17(NM_173628.3):c.7827G>A (p.T2609=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808294" "0" "50" "17" "76487520" "76487520" "subst" "2.06281E-5" "01943" "DNAH17_000092" "g.76487520C>T" "" "" "" "DNAH17(NM_173628.3):c.6669+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808295" "0" "30" "17" "76488836" "76488836" "subst" "0.000632576" "01943" "DNAH17_000093" "g.76488836G>T" "" "" "" "DNAH17(NM_173628.3):c.6420C>A (p.S2140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808296" "0" "50" "17" "76502807" "76502807" "subst" "0.00192501" "01943" "DNAH17_000094" "g.76502807C>T" "" "" "" "DNAH17(NM_173628.3):c.4798G>A (p.V1600M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808297" "0" "30" "17" "76523083" "76523083" "subst" "0.000540817" "01943" "DNAH17_000095" "g.76523083G>A" "" "" "" "DNAH17(NM_173628.3):c.3508-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000846132" "1" "50" "17" "76533410" "76533410" "subst" "0.00154434" "00006" "DNAH17_000080" "g.76533410G>A" "" "{PMID:Oud 2020:31985809}" "" "Arg944Trp" "" "Germline" "" "" "0" "" "" "g.78537328G>A" "" "VUS" "" "0000846133" "2" "50" "17" "76475687" "76475687" "subst" "0" "00006" "DNAH17_000096" "g.76475687A>T" "" "{PMID:Oud 2020:31985809}" "" "Phe2594Ile" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000855129" "0" "50" "17" "76423171" "76423171" "subst" "0" "01943" "DNAH17_000097" "g.76423171C>T" "" "" "" "DNAH17(NM_173628.3):c.12607G>A (p.D4203N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855130" "0" "50" "17" "76435216" "76435216" "subst" "0.000236031" "01943" "DNAH17_000098" "g.76435216C>A" "" "" "" "DNAH17(NM_173628.3):c.11761G>T (p.A3921S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855131" "0" "50" "17" "76481627" "76481627" "subst" "0.000267044" "01943" "DNAH17_000101" "g.76481627C>T" "" "" "" "DNAH17(NM_173628.3):c.7483+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855132" "0" "30" "17" "76490136" "76490136" "subst" "0.000183983" "01943" "DNAH17_000103" "g.76490136C>T" "" "" "" "DNAH17(NM_173628.3):c.6390G>A (p.A2130=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865525" "0" "30" "17" "76450653" "76450653" "subst" "2.03537E-5" "01943" "DNAH17_000099" "g.76450653G>A" "" "" "" "DNAH17(NM_173628.3):c.10305C>T (p.T3435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865526" "0" "50" "17" "76464907" "76464907" "subst" "0" "01943" "DNAH17_000100" "g.76464907A>G" "" "" "" "DNAH17(NM_173628.3):c.8570T>C (p.L2857P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865527" "0" "50" "17" "76490119" "76490119" "subst" "0" "01943" "DNAH17_000102" "g.76490119T>G" "" "" "" "DNAH17(NM_173628.3):c.6407A>C (p.Q2136P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865528" "0" "50" "17" "76565265" "76565265" "subst" "0" "01943" "DNAH17_000104" "g.76565265G>A" "" "" "" "DNAH17(NM_173628.3):c.1267C>T (p.R423C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865529" "0" "30" "17" "76565497" "76565497" "subst" "0.000180636" "01943" "DNAH17_000105" "g.76565497G>A" "" "" "" "DNAH17(NM_173628.3):c.1157C>T (p.T386M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000914985" "0" "50" "17" "76449440" "76449440" "subst" "0.000212165" "02325" "DNAH17_000107" "g.76449440G>A" "" "" "" "DNAH17(NM_173628.4):c.10514C>T (p.T3505M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000914986" "0" "50" "17" "76533410" "76533410" "subst" "0.00154434" "02325" "DNAH17_000080" "g.76533410G>A" "" "" "" "DNAH17(NM_173628.3):c.2830C>T (p.R944W), DNAH17(NM_173628.4):c.2830C>T (p.R944W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936302" "0" "50" "17" "76430214" "76430214" "subst" "8.93909E-5" "00006" "DNAH17_000108" "g.76430214G>A" "" "{PMID:Hamdan 2017:29100083}" "" "NM_173628:c.C12121T (R4041C)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000951051" "0" "50" "17" "76423042" "76423042" "subst" "0.000142162" "02327" "DNAH17_000040" "g.76423042G>A" "" "" "" "DNAH17(NM_173628.3):c.12736C>T (p.R4246C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951052" "0" "50" "17" "76451800" "76451800" "subst" "8.92227E-5" "02327" "DNAH17_000109" "g.76451800C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982829" "0" "30" "17" "76422528" "76422528" "subst" "4.49822E-5" "01804" "DNAH17_000110" "g.76422528C>T" "" "" "" "DNAH17(NM_173628.4):c.12915+10G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000982832" "0" "70" "17" "76471884" "76471884" "subst" "0" "02327" "DNAH17_000111" "g.76471884G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982833" "0" "50" "17" "76502817" "76502817" "subst" "0" "01804" "DNAH17_000112" "g.76502817G>A" "" "" "" "DNAH17(NM_173628.4):c.4788C>T (p.(Gly1596=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982834" "0" "70" "17" "76510927" "76510927" "subst" "0.00200242" "02327" "DNAH17_000076" "g.76510927G>A" "" "" "" "DNAH17(NM_173628.3):c.4042C>T (p.R1348C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000982835" "0" "30" "17" "76567810" "76567810" "subst" "0.000299274" "01804" "DNAH17_000113" "g.76567810G>A" "" "" "" "DNAH17(NM_173628.4):c.594C>T (p.(Ile198=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003721" "0" "30" "17" "76420272" "76420272" "subst" "0" "01804" "DNAH17_000114" "g.76420272C>T" "" "" "" "PGS1(NM_024419.3):c.*141C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001015628" "0" "50" "17" "76433932" "76433932" "subst" "0.000379063" "02325" "DNAH17_000115" "g.76433932G>A" "" "" "" "DNAH17(NM_173628.4):c.11824C>T (p.R3942W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015629" "0" "50" "17" "76445548" "76445548" "subst" "1.23689E-5" "02325" "DNAH17_000116" "g.76445548C>T" "" "" "" "DNAH17(NM_173628.4):c.11159G>A (p.R3720Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027065" "0" "50" "17" "76458996" "76458996" "subst" "6.90322E-5" "02325" "DNAH17_000117" "g.76458996C>G" "" "" "" "DNAH17(NM_173628.4):c.9104G>C (p.R3035T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027066" "0" "50" "17" "76482056" "76482056" "subst" "0.000601704" "02325" "DNAH17_000118" "g.76482056C>T" "" "" "" "DNAH17(NM_173628.4):c.7261G>A (p.D2421N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056199" "0" "30" "17" "76488805" "76488805" "subst" "0" "01804" "DNAH17_000119" "g.76488805T>G" "" "" "" "DNAH17(NM_173628.4):c.6451A>C (p.(Lys2151Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056200" "0" "50" "17" "76490156" "76490156" "subst" "0" "01804" "DNAH17_000120" "g.76490156C>G" "" "" "" "DNAH17(NM_173628.4):c.6370G>C (p.(Val2124Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056201" "0" "50" "17" "76503397" "76503397" "subst" "0.000333006" "02327" "DNAH17_000121" "g.76503397G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001056202" "0" "30" "17" "76548775" "76548775" "subst" "0.00119805" "01804" "DNAH17_000028" "g.76548775G>A" "" "" "" "DNAH17(NM_173628.3):c.2287+4C>T, DNAH17(NM_173628.4):c.2287+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001056203" "0" "50" "17" "76557910" "76557910" "dup" "0" "01804" "DNAH17_000122" "g.76557910dup" "" "" "" "DNAH17(NM_173628.4):c.1722dup (p.(Ile575Hisfs*53))" "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 DNAH17 ## Count = 124 "{{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}}" "0000253635" "00006528" "10" "441" "0" "441" "0" "c.441T>C" "r.(?)" "p.(Asn147=)" "" "0000275254" "00006528" "30" "10965" "0" "10965" "0" "c.10965G>A" "r.(?)" "p.(Ala3655=)" "" "0000275255" "00006528" "30" "11391" "0" "11391" "0" "c.11391C>T" "r.(?)" "p.(Ala3797=)" "" "0000275256" "00006528" "30" "12018" "0" "12018" "0" "c.12018G>A" "r.(?)" "p.(Leu4006=)" "" "0000275257" "00006528" "30" "12192" "0" "12192" "0" "c.12192C>T" "r.(?)" "p.(Asn4064=)" "" "0000275258" "00006528" "30" "12372" "0" "12372" "0" "c.12372C>T" "r.(?)" "p.(Pro4124=)" "" "0000275259" "00006528" "50" "13183" "0" "13183" "0" "c.13183C>T" "r.(?)" "p.(Arg4395Trp)" "" "0000275260" "00006528" "50" "13346" "0" "13346" "0" "c.13346C>T" "r.(?)" "p.(Ala4449Val)" "" "0000275261" "00006528" "10" "1871" "0" "1871" "0" "c.1871A>G" "r.(?)" "p.(Gln624Arg)" "" "0000275262" "00006528" "30" "2287" "4" "2287" "4" "c.2287+4C>T" "r.spl?" "p.?" "" "0000275263" "00006528" "10" "3114" "5" "3114" "5" "c.3114+5G>A" "r.spl?" "p.?" "" "0000275264" "00006528" "50" "3821" "0" "3821" "0" "c.3821G>A" "r.(?)" "p.(Arg1274Gln)" "" "0000275265" "00006528" "30" "5922" "0" "5922" "0" "c.5922C>T" "r.(?)" "p.(Val1974=)" "" "0000275266" "00006528" "50" "6250" "0" "6250" "0" "c.6250C>T" "r.(?)" "p.(Arg2084Trp)" "" "0000275267" "00006528" "30" "6462" "0" "6462" "0" "c.6462C>T" "r.(?)" "p.(Ala2154=)" "" "0000275268" "00006528" "30" "8132" "0" "8132" "0" "c.8132C>T" "r.(?)" "p.(Ala2711Val)" "" "0000275269" "00006528" "50" "9049" "0" "9049" "0" "c.9049C>A" "r.(?)" "p.(Pro3017Thr)" "" "0000305518" "00006528" "30" "33438" "0" "33438" "0" "c.*20049G>A" "r.(=)" "p.(=)" "" "0000325657" "00006528" "50" "12389" "0" "12389" "0" "c.12389C>G" "r.(?)" "p.(Pro4130Arg)" "" "0000325658" "00006528" "50" "12267" "0" "12267" "0" "c.12267G>A" "r.(?)" "p.(Met4089Ile)" "" "0000325662" "00006528" "50" "10900" "0" "10900" "0" "c.10900G>A" "r.(?)" "p.(Val3634Met)" "" "0000325663" "00006528" "50" "10572" "0" "10572" "0" "c.10572G>T" "r.(?)" "p.(Lys3524Asn)" "" "0000325664" "00006528" "50" "10529" "8" "10529" "10" "c.10529+8_10529+10del" "r.(=)" "p.(=)" "" "0000325665" "00006528" "50" "9815" "0" "9815" "0" "c.9815T>A" "r.(?)" "p.(Leu3272Gln)" "" "0000325666" "00006528" "50" "9322" "0" "9322" "0" "c.9322G>A" "r.(?)" "p.(Val3108Ile)" "" "0000325667" "00006528" "30" "7650" "-5" "7650" "-5" "c.7650-5C>T" "r.spl?" "p.?" "" "0000325668" "00006528" "30" "6669" "7" "6669" "7" "c.6669+7G>A" "r.(=)" "p.(=)" "" "0000348440" "00006528" "50" "12386" "0" "12386" "0" "c.12386C>T" "r.(?)" "p.(Pro4129Leu)" "" "0000349479" "00006528" "50" "11204" "0" "11204" "0" "c.11204C>T" "r.(?)" "p.(Thr3735Met)" "" "0000473833" "00006528" "70" "1293" "0" "1294" "0" "c.1293_1294del" "r.(?)" "p.(Tyr431*)" "10" "0000473834" "00006528" "90" "7994" "0" "8012" "0" "c.7994_8012del" "r.(?)" "p.(Gly2665Glufs*4)" "52" "0000473835" "00006528" "70" "5486" "0" "5486" "0" "c.5486G>A" "r.(?)" "p.(Cys1829Tyr)" "36" "0000473837" "00006528" "70" "10496" "0" "10496" "0" "c.10496C>T" "r.(?)" "p.(Pro3499Leu)" "65" "0000473838" "00006528" "90" "10784" "0" "10784" "0" "c.10784T>C" "r.(?)" "p.(Leu3595Pro)" "67" "0000473840" "00006528" "90" "10486" "0" "10497" "0" "c.10486_10497dup" "r.(?)" "p.(Val3496_Pro3499dup)" "65" "0000487478" "00006528" "50" "10496" "0" "10496" "0" "c.10496C>T" "r.(?)" "p.(Pro3499Leu)" "" "0000487479" "00006528" "70" "10784" "0" "10784" "0" "c.10784T>C" "r.(?)" "p.(Leu3595Pro)" "" "0000563286" "00006528" "50" "13202" "0" "13202" "0" "c.13202C>T" "r.(?)" "p.(Pro4401Leu)" "" "0000563287" "00006528" "50" "12736" "0" "12736" "0" "c.12736C>T" "r.(?)" "p.(Arg4246Cys)" "" "0000563288" "00006528" "30" "11806" "-5" "11806" "-5" "c.11806-5T>C" "r.spl?" "p.?" "" "0000563290" "00006528" "50" "10258" "0" "10258" "0" "c.10258C>T" "r.(?)" "p.(Pro3420Ser)" "" "0000563291" "00006528" "30" "9261" "0" "9261" "0" "c.9261C>T" "r.(?)" "p.(Val3087=)" "" "0000563292" "00006528" "30" "8512" "-6" "8512" "-6" "c.8512-6G>A" "r.(=)" "p.(=)" "" "0000563293" "00006528" "30" "7901" "0" "7901" "0" "c.7901C>T" "r.(?)" "p.(Ala2634Val)" "" "0000563294" "00006528" "30" "6669" "4" "6669" "4" "c.6669+4C>T" "r.spl?" "p.?" "" "0000563295" "00006528" "50" "4541" "0" "4541" "0" "c.4541C>T" "r.(?)" "p.(Pro1514Leu)" "" "0000563299" "00006528" "30" "1864" "0" "1864" "0" "c.1864A>G" "r.(?)" "p.(Thr622Ala)" "" "0000563301" "00006528" "30" "833" "-7" "833" "-7" "c.833-7C>T" "r.(=)" "p.(=)" "" "0000563302" "00006528" "30" "393" "0" "393" "0" "c.393C>G" "r.(?)" "p.(Pro131=)" "" "0000563303" "00006528" "30" "332" "0" "332" "0" "c.332C>A" "r.(?)" "p.(Ala111Glu)" "" "0000563304" "00006528" "30" "144" "0" "144" "0" "c.144C>A" "r.(?)" "p.(Asp48Glu)" "" "0000616858" "00006528" "30" "38983" "0" "38983" "0" "c.*25594T>G" "r.(=)" "p.(=)" "" "0000616859" "00006528" "50" "12237" "0" "12237" "0" "c.12237C>A" "r.(?)" "p.(Asp4079Glu)" "" "0000616860" "00006528" "30" "11679" "0" "11679" "0" "c.11679A>G" "r.(?)" "p.(Gly3893=)" "" "0000616861" "00006528" "50" "8089" "0" "8089" "0" "c.8089G>A" "r.(?)" "p.(Val2697Ile)" "" "0000623774" "00006528" "30" "13278" "0" "13278" "0" "c.13278G>T" "r.(?)" "p.(Val4426=)" "" "0000623775" "00006528" "30" "9237" "0" "9237" "0" "c.9237C>T" "r.(?)" "p.(Ser3079=)" "" "0000623776" "00006528" "30" "3516" "0" "3516" "0" "c.3516G>A" "r.(?)" "p.(Pro1172=)" "" "0000649722" "00006528" "30" "12854" "0" "12854" "0" "c.12854G>A" "r.(?)" "p.(Arg4285Gln)" "" "0000658273" "00006528" "30" "10941" "0" "10941" "0" "c.10941G>A" "r.(?)" "p.(Ala3647=)" "" "0000658274" "00006528" "30" "6379" "0" "6379" "0" "c.6379G>A" "r.(?)" "p.(Val2127Ile)" "" "0000658275" "00006528" "30" "3730" "0" "3730" "0" "c.3730G>A" "r.(?)" "p.(Ala1244Thr)" "" "0000658276" "00006528" "30" "3661" "0" "3661" "0" "c.3661G>A" "r.(?)" "p.(Glu1221Lys)" "" "0000658277" "00006528" "30" "3660" "0" "3660" "0" "c.3660C>G" "r.(?)" "p.(Arg1220=)" "" "0000681045" "00006528" "30" "7698" "0" "7698" "0" "c.7698C>T" "r.(?)" "p.(Tyr2566=)" "" "0000681046" "00006528" "50" "6639" "0" "6639" "0" "c.6639G>C" "r.(?)" "p.(Glu2213Asp)" "" "0000726709" "00006528" "30" "10529" "8" "10529" "10" "c.10529+8_10529+10del" "r.(=)" "p.(=)" "" "0000726710" "00006528" "30" "10323" "0" "10323" "0" "c.10323C>T" "r.(?)" "p.(Ile3441=)" "" "0000726711" "00006528" "30" "8244" "0" "8244" "0" "c.8244C>T" "r.(?)" "p.(Thr2748=)" "" "0000726712" "00006528" "50" "6880" "0" "6880" "0" "c.6880C>A" "r.(?)" "p.(Leu2294Ile)" "" "0000726713" "00006528" "50" "6263" "0" "6263" "0" "c.6263T>G" "r.(?)" "p.(Phe2088Cys)" "" "0000726714" "00006528" "50" "4798" "0" "4798" "0" "c.4798G>T" "r.(?)" "p.(Val1600Leu)" "" "0000726715" "00006528" "50" "4042" "0" "4042" "0" "c.4042C>T" "r.(?)" "p.(Arg1348Cys)" "" "0000726716" "00006528" "30" "4035" "0" "4035" "0" "c.4035G>A" "r.(?)" "p.(Thr1345=)" "" "0000726717" "00006528" "50" "3122" "0" "3122" "0" "c.3122C>A" "r.(?)" "p.(Ser1041Tyr)" "" "0000726718" "00006528" "30" "3114" "7" "3114" "7" "c.3114+7G>A" "r.(=)" "p.(=)" "" "0000726719" "00006528" "50" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Trp)" "" "0000726720" "00006528" "30" "663" "0" "663" "0" "c.663C>T" "r.(?)" "p.(His221=)" "" "0000726721" "00006528" "30" "18" "0" "18" "0" "c.18C>T" "r.(?)" "p.(Asp6=)" "" "0000726722" "00006528" "30" "-26" "7" "-26" "7" "c.-26+7G>A" "r.(=)" "p.(=)" "" "0000808285" "00006528" "50" "12773" "0" "12773" "0" "c.12773G>A" "r.(?)" "p.(Gly4258Glu)" "" "0000808286" "00006528" "30" "12513" "0" "12513" "0" "c.12513G>A" "r.(?)" "p.(Leu4171=)" "" "0000808287" "00006528" "50" "11987" "0" "11987" "0" "c.11987C>T" "r.(?)" "p.(Thr3996Met)" "" "0000808288" "00006528" "30" "11679" "0" "11679" "0" "c.11679A>G" "r.(?)" "p.(Gly3893=)" "" "0000808289" "00006528" "30" "11212" "-7" "11212" "-7" "c.11212-7C>T" "r.(=)" "p.(=)" "" "0000808290" "00006528" "30" "10821" "0" "10821" "0" "c.10821G>A" "r.(?)" "p.(Ser3607=)" "" "0000808291" "00006528" "50" "10805" "0" "10805" "0" "c.10805G>T" "r.(?)" "p.(Arg3602Leu)" "" "0000808292" "00006528" "30" "9978" "-10" "9978" "-10" "c.9978-10C>A" "r.(=)" "p.(=)" "" "0000808293" "00006528" "30" "7827" "0" "7827" "0" "c.7827G>A" "r.(?)" "p.(Thr2609=)" "" "0000808294" "00006528" "50" "6669" "5" "6669" "5" "c.6669+5G>A" "r.spl?" "p.?" "" "0000808295" "00006528" "30" "6420" "0" "6420" "0" "c.6420C>A" "r.(?)" "p.(Ser2140=)" "" "0000808296" "00006528" "50" "4798" "0" "4798" "0" "c.4798G>A" "r.(?)" "p.(Val1600Met)" "" "0000808297" "00006528" "30" "3508" "-5" "3508" "-5" "c.3508-5C>T" "r.spl?" "p.?" "" "0000846132" "00006528" "50" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Trp)" "" "0000846133" "00006528" "50" "7780" "0" "7780" "0" "c.7780T>A" "r.(?)" "p.(Phe2594Ile)" "" "0000855129" "00006528" "50" "12607" "0" "12607" "0" "c.12607G>A" "r.(?)" "p.(Asp4203Asn)" "" "0000855130" "00006528" "50" "11761" "0" "11761" "0" "c.11761G>T" "r.(?)" "p.(Ala3921Ser)" "" "0000855131" "00006528" "50" "7483" "5" "7483" "5" "c.7483+5G>A" "r.spl?" "p.?" "" "0000855132" "00006528" "30" "6390" "0" "6390" "0" "c.6390G>A" "r.(?)" "p.(=)" "" "0000865525" "00006528" "30" "10305" "0" "10305" "0" "c.10305C>T" "r.(?)" "p.(=)" "" "0000865526" "00006528" "50" "8570" "0" "8570" "0" "c.8570T>C" "r.(?)" "p.(Leu2857Pro)" "" "0000865527" "00006528" "50" "6407" "0" "6407" "0" "c.6407A>C" "r.(?)" "p.(Gln2136Pro)" "" "0000865528" "00006528" "50" "1267" "0" "1267" "0" "c.1267C>T" "r.(?)" "p.(Arg423Cys)" "" "0000865529" "00006528" "30" "1157" "0" "1157" "0" "c.1157C>T" "r.(?)" "p.(Thr386Met)" "" "0000914985" "00006528" "50" "10514" "0" "10514" "0" "c.10514C>T" "r.(?)" "p.(Thr3505Met)" "" "0000914986" "00006528" "50" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Trp)" "" "0000936302" "00006528" "50" "12121" "0" "12121" "0" "c.12121C>T" "r.(?)" "p.(Arg4041Cys)" "" "0000951051" "00006528" "50" "12736" "0" "12736" "0" "c.12736C>T" "r.(?)" "p.(Arg4246Cys)" "" "0000951052" "00006528" "50" "10096" "0" "10096" "0" "c.10096G>A" "r.(?)" "p.(Val3366Met)" "" "0000982829" "00006528" "30" "12915" "10" "12915" "10" "c.12915+10G>A" "r.(=)" "p.(=)" "" "0000982832" "00006528" "70" "8186" "0" "8186" "0" "c.8186C>T" "r.(?)" "p.(Pro2729Leu)" "" "0000982833" "00006528" "50" "4788" "0" "4788" "0" "c.4788C>T" "r.(?)" "p.(=)" "" "0000982834" "00006528" "70" "4042" "0" "4042" "0" "c.4042C>T" "r.(?)" "p.(Arg1348Cys)" "" "0000982835" "00006528" "30" "594" "0" "594" "0" "c.594C>T" "r.(?)" "p.(=)" "" "0001003721" "00006528" "30" "13142" "-38" "13142" "-38" "c.13142-38G>A" "r.(=)" "p.(=)" "" "0001015628" "00006528" "50" "11824" "0" "11824" "0" "c.11824C>T" "r.(?)" "p.(Arg3942Trp)" "" "0001015629" "00006528" "50" "11159" "0" "11159" "0" "c.11159G>A" "r.(?)" "p.(Arg3720Gln)" "" "0001027065" "00006528" "50" "9104" "0" "9104" "0" "c.9104G>C" "r.(?)" "p.(Arg3035Thr)" "" "0001027066" "00006528" "50" "7261" "0" "7261" "0" "c.7261G>A" "r.(?)" "p.(Asp2421Asn)" "" "0001056199" "00006528" "30" "6451" "0" "6451" "0" "c.6451A>C" "r.(?)" "p.(Lys2151Gln)" "" "0001056200" "00006528" "50" "6370" "0" "6370" "0" "c.6370G>C" "r.(?)" "p.(Val2124Leu)" "" "0001056201" "00006528" "50" "4639" "0" "4639" "0" "c.4639C>T" "r.(?)" "p.(Pro1547Ser)" "" "0001056202" "00006528" "30" "2287" "4" "2287" "4" "c.2287+4C>T" "r.spl?" "p.?" "" "0001056203" "00006528" "50" "1722" "0" "1722" "0" "c.1722dup" "r.(?)" "p.(Ile575Hisfs*53)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000231752" "0000473833" "0000231752" "0000473834" "0000231753" "0000473835" "0000231754" "0000473837" "0000231754" "0000473838" "0000231755" "0000473840" "0000241497" "0000487478" "0000241497" "0000487479" "0000293033" "0000649722" "0000409071" "0000846132" "0000409071" "0000846133" "0000440144" "0000936302"