### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DNAH10) # 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}}" "DNAH10" "dynein, axonemal, heavy chain 10" "12" "q24" "unknown" "NC_000012.11" "UD_132319691222" "" "https://www.LOVD.nl/DNAH10" "" "1" "2941" "196385" "605884" "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/DNAH10_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-05-16 17:27:11" "00000" "2026-01-20 18:57:21" ## 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}}" "00006524" "DNAH10" "dynein, axonemal, heavy chain 10" "001" "NM_207437.3" "" "NP_997320.2" "" "" "" "-25" "13655" "13416" "124247042" "124420267" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06925" "SPGF56" "spermatogenic failure, type 56" "AR" "619515" "" "" "" "00006" "2022-04-14 21:05:21" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "DNAH10" "06925" ## 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}}" "00104567" "" "" "" "1" "" "01836" "" "" "M" "?" "France" "" "0" "" "" "" "" "00290634" "" "" "" "181" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290635" "" "" "" "91" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304335" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304336" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307076" "" "" "" "1" "" "00006" "{PMID:Motta 2020:32721402}, {DOI:Motta 2020:10.1016/j.ajhg.2020.06.018}" "" "M" "no" "Italy" "" "0" "" "" "white" "Pat1" "00467798" "" "" "" "1" "" "00006" "{PMID:Charng 2016:27435318}" "2-generation family, 1 affected (from twin pair), unaffected heterozygous carrier parents" "" "yes" "Saudi Arabia" "" "0" "" "" "" "Fam048PatBAB6901" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 7 "{{individualid}}" "{{diseaseid}}" "00104567" "00138" "00290634" "00198" "00290635" "00198" "00304335" "00198" "00304336" "00198" "00307076" "05611" "00467798" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00198, 05611, 06925 ## Count = 3 "{{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}}" "0000082486" "00138" "00104567" "01836" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232894" "05611" "00307076" "00006" "Familial, autosomal recessive" "13y2m" "birth height 53 cm (+1.65 SD), weight 3,650 g (+0.6 SD); height 157 cm (-0.04 SD), weight 45.5 kg (-0.01 SD), OFC 59 cm (+2.82 SD); developmental delay; no intellectual disability; no speech delay; anxiety, reduced stress tolerance; learning disorder; no hypotonia; no epilepsy; mitral regurgitation, mitral valve prolapse, patent foramen ovale; pes planus, scapular winging, cubitus valgus; epicanthal folds, blue eyes, hypertelorism, low- set posteriorly rotated ears, webbed/short neck; curly and thick hair, multiple lentigines; no cryptorchidism; no GER; no recurrent infections; no lymphatic involvement; no bleeding, no easy bruising; no hearing problems" "" "" "" "" "" "" "" "" "" "neurodegeneration" "" "0000352951" "05611" "00467798" "00006" "Familial, autosomal recessive" "" "developmental delay, growth failure, solitary kidney, unilateral cryptorchidism, hypotonia, overlapping fingers" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "" ## 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}}" "0000105039" "00104567" "1" "01836" "01836" "2017-05-15 14:44:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000291802" "00290634" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291803" "00290635" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305464" "00304335" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305465" "00304336" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308218" "00307076" "1" "00006" "00006" "2020-07-30 09:03:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469464" "00467798" "1" "00006" "00006" "2025-10-30 10:25:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 6 "{{screeningid}}" "{{geneid}}" "0000105039" "CCDC160" "0000105039" "DNAH10" "0000105039" "MTMR8" "0000105039" "SLC44A3" "0000105039" "UBAP2L" "0000308218" "MAPK1" ## 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 = 154 "{{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}}" "0000170300" "10" "50" "12" "124284830" "124284830" "subst" "2.43829E-5" "01836" "DNAH10_000001" "g.124284830C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.123800283C>T" "" "VUS" "" "0000170301" "20" "50" "12" "124330607" "124330607" "subst" "2.43669E-5" "01836" "DNAH10_000002" "g.124330607C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.123846060C>T" "" "VUS" "" "0000253856" "0" "10" "12" "124242472" "124242472" "subst" "0" "01943" "ATP6V0A2_000032" "g.124242472A>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123757925A>T" "" "benign" "" "0000254834" "0" "30" "12" "124242557" "124242557" "subst" "0.011124" "01943" "ATP6V0A2_000033" "g.124242557A>G" "" "" "" "ATP6V0A2(NM_012463.3):c.2549A>G (p.N850S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123758010A>G" "" "likely benign" "" "0000263308" "0" "10" "12" "124242471" "124242471" "del" "0" "01943" "ATP6V0A2_000031" "g.124242471del" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-3delT, ATP6V0A2(NM_012463.4):c.2466-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123757924del" "" "benign" "" "0000275170" "0" "30" "12" "124274620" "124274620" "subst" "8.1215E-6" "01943" "DNAH10_000004" "g.124274620C>T" "" "" "" "DNAH10(NM_207437.3):c.1584C>T (p.S528=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123790073C>T" "" "likely benign" "" "0000275171" "0" "30" "12" "124257437" "124257437" "subst" "0" "01943" "DNAH10_000003" "g.124257437T>C" "" "" "" "DNAH10(NM_207437.3):c.270T>C (p.L90=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123772890T>C" "" "likely benign" "" "0000275172" "0" "50" "12" "124364273" "124364273" "subst" "0.000101524" "01943" "DNAH10_000008" "g.124364273G>C" "" "" "" "DNAH10(NM_207437.3):c.8205G>C (p.Q2735H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123879726G>C" "" "VUS" "" "0000323201" "0" "50" "12" "124242472" "124242472" "subst" "0" "01804" "ATP6V0A2_000032" "g.124242472A>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-2A>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123757925A>T" "" "VUS" "" "0000323202" "0" "50" "12" "124330239" "124330239" "subst" "0.000182861" "01804" "DNAH10_000005" "g.124330239C>A" "" "" "" "DNAH10(NM_207437.3):c.5099C>A (p.(Ala1700Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123845692C>A" "" "VUS" "" "0000323203" "0" "50" "12" "124341635" "124341635" "subst" "8.15215E-5" "01804" "DNAH10_000006" "g.124341635G>C" "" "" "" "DNAH10(NM_207437.3):c.6117G>C (p.(Met2039Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123857088G>C" "" "VUS" "" "0000323204" "0" "30" "12" "124349236" "124349236" "subst" "0.00330644" "01804" "DNAH10_000007" "g.124349236G>C" "" "" "" "DNAH10(NM_001372106.1):c.7003G>C (p.(Glu2335Gln)), DNAH10(NM_207437.3):c.6649G>C (p.E2217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.123864689G>C" "" "likely benign" "" "0000546954" "0" "10" "12" "124242471" "124242471" "dup" "0" "02325" "ATP6V0A2_000040" "g.124242471dup" "" "" "" "ATP6V0A2(NM_012463.4):c.2466-3dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757924dup" "" "benign" "" "0000546955" "0" "30" "12" "124242472" "124242475" "del" "0" "01804" "ATP6V0A2_000041" "g.124242472_124242475del" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-2_2467del (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757925_123757928del" "" "likely benign" "" "0000546956" "0" "30" "12" "124242473" "124242473" "subst" "0" "01804" "ATP6V0A2_000042" "g.124242473G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-1G>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757926G>T" "" "likely benign" "" "0000546957" "0" "30" "12" "124242474" "124242474" "subst" "0" "01804" "ATP6V0A2_000043" "g.124242474G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2466G>T (p.(Trp822Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757927G>T" "" "likely benign" "" "0000546958" "0" "30" "12" "124242475" "124242475" "subst" "0" "01804" "ATP6V0A2_000044" "g.124242475G>T" "" "" "" "ATP6V0A2(NM_012463.3):c.2467G>T (p.(Val823Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757928G>T" "" "likely benign" "" "0000546959" "0" "30" "12" "124242476" "124242477" "ins" "0" "01804" "ATP6V0A2_000045" "g.124242476_124242477insTTTT" "" "" "" "ATP6V0A2(NM_012463.3):c.2467_2468insTTTT (p.(Glu824PhefsTer29))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123757929_123757930insTTTT" "" "likely benign" "" "0000546963" "0" "10" "12" "124265687" "124265687" "subst" "0.666508" "02330" "DNAH10_000010" "g.124265687T>C" "" "" "" "DNAH10(NM_207437.3):c.499T>C (p.S167P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123781140T>C" "" "benign" "" "0000546964" "0" "10" "12" "124267638" "124267638" "subst" "0.906568" "02330" "DNAH10_000011" "g.124267638A>G" "" "" "" "DNAH10(NM_207437.3):c.659-16A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123783091A>G" "" "benign" "" "0000546965" "0" "10" "12" "124267703" "124267703" "subst" "0.671544" "02330" "DNAH10_000012" "g.124267703T>C" "" "" "" "DNAH10(NM_207437.3):c.708T>C (p.S236=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123783156T>C" "" "benign" "" "0000546966" "0" "30" "12" "124267780" "124267780" "subst" "2.03174E-5" "01804" "DNAH10_000013" "g.124267780C>T" "" "" "" "DNAH10(NM_207437.3):c.785C>T (p.(Ala262Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123783233C>T" "" "likely benign" "" "0000546967" "0" "30" "12" "124268494" "124268494" "subst" "0.0002642" "01804" "DNAH10_000014" "g.124268494G>A" "" "" "" "DNAH10(NM_207437.3):c.817G>A (p.(Gly273Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123783947G>A" "" "likely benign" "" "0000546968" "0" "30" "12" "124270348" "124270348" "subst" "0.00146202" "02330" "DNAH10_000015" "g.124270348T>C" "" "" "" "DNAH10(NM_207437.3):c.1103T>C (p.M368T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123785801T>C" "" "likely benign" "" "0000546969" "0" "50" "12" "124270456" "124270456" "subst" "8.12797E-6" "01943" "DNAH10_000016" "g.124270456G>A" "" "" "" "DNAH10(NM_207437.3):c.1211G>A (p.R404Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123785909G>A" "" "VUS" "" "0000546970" "0" "50" "12" "124272442" "124272442" "subst" "1.227E-5" "01943" "DNAH10_000017" "g.124272442A>T" "" "" "" "DNAH10(NM_207437.3):c.1330A>T (p.I444L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123787895A>T" "" "VUS" "" "0000546971" "0" "10" "12" "124274474" "124274474" "subst" "0.727171" "02330" "DNAH10_000018" "g.124274474A>G" "" "" "" "DNAH10(NM_207437.3):c.1438A>G (p.I480V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123789927A>G" "" "benign" "" "0000546972" "0" "10" "12" "124281322" "124281322" "subst" "0.121751" "02330" "DNAH10_000019" "g.124281322T>C" "" "" "" "DNAH10(NM_207437.3):c.1752T>C (p.H584=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123796775T>C" "" "benign" "" "0000546973" "0" "10" "12" "124283801" "124283801" "subst" "0.00692002" "02330" "DNAH10_000020" "g.124283801A>G" "" "" "" "DNAH10(NM_207437.3):c.1818A>G (p.Q606=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123799254A>G" "" "benign" "" "0000546974" "0" "30" "12" "124285914" "124285914" "subst" "1.21821E-5" "01804" "DNAH10_000021" "g.124285914A>G" "" "" "" "DNAH10(NM_207437.3):c.2195A>G (p.(Asp732Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123801367A>G" "" "likely benign" "" "0000546975" "0" "10" "12" "124288212" "124288212" "subst" "0.0700295" "02330" "DNAH10_000022" "g.124288212C>T" "" "" "" "DNAH10(NM_207437.3):c.2265C>T (p.I755=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123803665C>T" "" "benign" "" "0000546976" "0" "10" "12" "124288264" "124288264" "subst" "0.0566327" "02330" "DNAH10_000023" "g.124288264G>A" "" "" "" "DNAH10(NM_207437.3):c.2317G>A (p.V773I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123803717G>A" "" "benign" "" "0000546977" "0" "10" "12" "124298030" "124298030" "subst" "0.0141444" "02330" "DNAH10_000024" "g.124298030G>A" "" "" "" "DNAH10(NM_207437.3):c.3110G>A (p.R1037H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123813483G>A" "" "benign" "" "0000546978" "0" "10" "12" "124298077" "124298077" "subst" "0.0100059" "02330" "DNAH10_000025" "g.124298077C>T" "" "" "" "DNAH10(NM_207437.3):c.3157C>T (p.H1053Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123813530C>T" "" "benign" "" "0000546979" "0" "50" "12" "124298141" "124298141" "subst" "3.25172E-5" "01943" "DNAH10_000026" "g.124298141A>G" "" "" "" "DNAH10(NM_207437.3):c.3221A>G (p.N1074S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123813594A>G" "" "VUS" "" "0000546980" "0" "10" "12" "124317874" "124317874" "subst" "0.0496932" "02330" "DNAH10_000027" "g.124317874C>T" "" "" "" "DNAH10(NM_207437.3):c.4405C>T (p.L1469=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123833327C>T" "" "benign" "" "0000546981" "0" "10" "12" "124325977" "124325977" "subst" "0.833693" "02330" "DNAH10_000028" "g.124325977T>G" "" "" "" "DNAH10(NM_207437.3):c.4891T>G (p.L1631V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123841430T>G" "" "benign" "" "0000546982" "0" "10" "12" "124330311" "124330311" "subst" "0.0867077" "02330" "DNAH10_000029" "g.124330311C>T" "" "" "" "DNAH10(NM_207437.3):c.5171C>T (p.T1724M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123845764C>T" "" "benign" "" "0000546984" "0" "30" "12" "124333367" "124333367" "subst" "0.00774784" "01804" "DNAH10_000031" "g.124333367G>A" "" "" "" "DNAH10(NM_207437.3):c.5686G>A (p.V1896M, p.(Val1896Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123848820G>A" "" "likely benign" "" "0000546985" "0" "10" "12" "124337772" "124337772" "subst" "0.0281765" "02330" "DNAH10_000032" "g.124337772C>T" "" "" "" "DNAH10(NM_207437.3):c.5957C>T (p.T1986M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123853225C>T" "" "benign" "" "0000546986" "0" "50" "12" "124352603" "124352603" "subst" "0.000446853" "02330" "DNAH10_000033" "g.124352603C>T" "" "" "" "DNAH10(NM_207437.3):c.7102C>T (p.R2368C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123868056C>T" "" "VUS" "" "0000546988" "0" "10" "12" "124366162" "124366163" "del" "0" "02330" "DNAH10_000035" "g.124366162_124366163del" "" "" "" "DNAH10(NM_207437.3):c.8281-10_8281-9delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123881615_123881616del" "" "benign" "" "0000546989" "0" "10" "12" "124366163" "124366163" "del" "0" "02330" "DNAH10_000036" "g.124366163del" "" "" "" "DNAH10(NM_207437.3):c.8281-9delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123881616del" "" "benign" "" "0000546990" "0" "10" "12" "124371684" "124371684" "subst" "0.00460856" "02330" "DNAH10_000037" "g.124371684C>T" "" "" "" "DNAH10(NM_207437.3):c.8470-5C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123887137C>T" "" "benign" "" "0000546991" "0" "10" "12" "124377814" "124377814" "subst" "0.0548481" "02330" "DNAH10_000038" "g.124377814A>G" "" "" "" "DNAH10(NM_207437.3):c.8676A>G (p.K2892=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123893267A>G" "" "benign" "" "0000546992" "0" "10" "12" "124377992" "124377992" "subst" "0.0534272" "02330" "DNAH10_000039" "g.124377992G>A" "" "" "" "DNAH10(NM_207437.3):c.8845+9G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123893445G>A" "" "benign" "" "0000546993" "0" "10" "12" "124387574" "124387574" "subst" "0.246122" "02330" "DNAH10_000040" "g.124387574G>A" "" "" "" "DNAH10(NM_207437.3):c.9375G>A (p.E3125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123903027G>A" "" "benign" "" "0000546994" "0" "10" "12" "124387586" "124387586" "subst" "0.251897" "02330" "DNAH10_000041" "g.124387586A>G" "" "" "" "DNAH10(NM_207437.3):c.9387A>G (p.A3129=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123903039A>G" "" "benign" "" "0000546995" "0" "10" "12" "124387669" "124387669" "subst" "0.0421797" "02330" "DNAH10_000042" "g.124387669C>T" "" "" "" "DNAH10(NM_207437.3):c.9461+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123903122C>T" "" "benign" "" "0000546996" "0" "30" "12" "124395150" "124395150" "subst" "0" "01943" "DNAH10_000043" "g.124395150G>A" "" "" "" "DNAH10(NM_207437.3):c.9711G>A (p.M3237I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123910603G>A" "" "likely benign" "" "0000546997" "0" "10" "12" "124399005" "124399005" "subst" "0.0204722" "02330" "DNAH10_000044" "g.124399005G>A" "" "" "" "DNAH10(NM_207437.3):c.10128G>A (p.R3376=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123914458G>A" "" "benign" "" "0000546998" "0" "30" "12" "124399382" "124399382" "subst" "0.000214357" "02330" "DNAH10_000045" "g.124399382A>G" "" "" "" "DNAH10(NM_207437.3):c.10221-17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123914835A>G" "" "likely benign" "" "0000546999" "0" "30" "12" "124399436" "124399436" "subst" "0.000322317" "01943" "DNAH10_000046" "g.124399436G>A" "" "" "" "DNAH10(NM_207437.3):c.10258G>A (p.V3420I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123914889G>A" "" "likely benign" "" "0000547000" "0" "30" "12" "124399544" "124399544" "subst" "0" "01804" "DNAH10_000047" "g.124399544C>T" "" "" "" "DNAH10(NM_207437.3):c.10366C>T (p.(Arg3456Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123914997C>T" "" "likely benign" "" "0000547001" "0" "10" "12" "124399550" "124399550" "subst" "0.133323" "02330" "DNAH10_000048" "g.124399550T>C" "" "" "" "DNAH10(NM_207437.3):c.10368+4T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123915003T>C" "" "benign" "" "0000547002" "0" "10" "12" "124401027" "124401027" "subst" "0.0110413" "02330" "DNAH10_000049" "g.124401027C>A" "" "" "" "DNAH10(NM_207437.3):c.10392C>A (p.D3464E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123916480C>A" "" "benign" "" "0000547003" "0" "30" "12" "124402165" "124402165" "subst" "0.000308319" "02330" "DNAH10_000050" "g.124402165C>T" "" "" "" "DNAH10(NM_207437.3):c.10683C>T (p.S3561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123917618C>T" "" "likely benign" "" "0000547004" "0" "30" "12" "124402341" "124402341" "subst" "0.00354692" "01804" "DNAH10_000051" "g.124402341C>T" "" "" "" "DNAH10(NM_207437.3):c.10859C>T (p.T3620I, p.(Thr3620Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123917794C>T" "" "likely benign" "" "0000547005" "0" "10" "12" "124412928" "124412928" "subst" "0.00991381" "02330" "DNAH10_000009" "g.124412928G>A" "" "" "" "DNAH10(NM_207437.3):c.11752-6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123928381G>A" "" "benign" "" "0000547007" "0" "10" "12" "124417889" "124417889" "subst" "0.276496" "02330" "CCDC92_000001" "g.124417889C>T" "" "" "" "DNAH10(NM_207437.3):c.12954C>T (p.S4318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123933342C>T" "" "benign" "" "0000547008" "0" "10" "12" "124417973" "124417973" "subst" "0.0138591" "02330" "CCDC92_000002" "g.124417973C>T" "" "" "" "DNAH10(NM_207437.3):c.13038C>T (p.N4346=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123933426C>T" "" "benign" "" "0000613923" "0" "30" "12" "124265662" "124265662" "subst" "4.46987E-5" "02330" "DNAH10_000053" "g.124265662G>A" "" "" "" "DNAH10(NM_207437.3):c.474G>A (p.R158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123781115G>A" "" "likely benign" "" "0000613924" "0" "10" "12" "124272382" "124272382" "subst" "0.00832825" "02330" "DNAH10_000055" "g.124272382T>C" "" "" "" "DNAH10(NM_207437.3):c.1270T>C (p.L424=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123787835T>C" "" "benign" "" "0000613925" "0" "30" "12" "124293410" "124293410" "subst" "0" "01943" "DNAH10_000056" "g.124293410G>C" "" "" "" "DNAH10(NM_207437.3):c.2700G>C (p.L900=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123808863G>C" "" "likely benign" "" "0000613926" "0" "10" "12" "124293413" "124293413" "subst" "0.0137778" "02330" "DNAH10_000057" "g.124293413G>A" "" "" "" "DNAH10(NM_207437.3):c.2703G>A (p.T901=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123808866G>A" "" "benign" "" "0000613927" "0" "10" "12" "124320087" "124320087" "subst" "0.0100237" "02330" "DNAH10_000059" "g.124320087G>A" "" "" "" "DNAH10(NM_207437.3):c.4548+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123835540G>A" "" "benign" "" "0000613928" "0" "10" "12" "124323006" "124323006" "subst" "0.00943311" "02330" "DNAH10_000060" "g.124323006A>G" "" "" "" "DNAH10(NM_207437.3):c.4552A>G (p.M1518V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123838459A>G" "" "benign" "" "0000613929" "0" "10" "12" "124358121" "124358121" "subst" "0.0112798" "02330" "DNAH10_000067" "g.124358121A>G" "" "" "" "DNAH10(NM_207437.3):c.7448A>G (p.N2483S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123873574A>G" "" "benign" "" "0000613930" "0" "30" "12" "124358200" "124358200" "subst" "0.000387271" "02330" "DNAH10_000068" "g.124358200C>T" "" "" "" "DNAH10(NM_207437.3):c.7527C>T (p.Y2509=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123873653C>T" "" "likely benign" "" "0000613931" "0" "30" "12" "124371674" "124371674" "subst" "0.000156834" "02330" "DNAH10_000070" "g.124371674G>T" "" "" "" "DNAH10(NM_207437.3):c.8470-15G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123887127G>T" "" "likely benign" "" "0000613932" "0" "10" "12" "124383261" "124383261" "subst" "0.00514744" "02330" "DNAH10_000072" "g.124383261C>T" "" "" "" "DNAH10(NM_207437.3):c.9186C>T (p.D3062=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123898714C>T" "" "benign" "" "0000613933" "0" "50" "12" "124399030" "124399030" "subst" "8.12473E-5" "02330" "DNAH10_000074" "g.124399030C>T" "" "" "" "DNAH10(NM_207437.3):c.10153C>T (p.R3385W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123914483C>T" "" "VUS" "" "0000613934" "0" "30" "12" "124399386" "124399386" "subst" "0.00312274" "02330" "DNAH10_000075" "g.124399386C>G" "" "" "" "DNAH10(NM_207437.3):c.10221-13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123914839C>G" "" "likely benign" "" "0000613935" "0" "50" "12" "124412971" "124412971" "subst" "0" "02330" "DNAH10_000079" "g.124412971G>A" "" "" "" "DNAH10(NM_207437.3):c.11789G>A (p.G3930E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123928424G>A" "" "VUS" "" "0000613936" "0" "30" "12" "124414260" "124414260" "subst" "0.00036291" "01943" "DNAH10_000082" "g.124414260G>A" "" "" "" "DNAH10(NM_207437.3):c.12212G>A (p.R4071Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123929713G>A" "" "likely benign" "" "0000622796" "0" "10" "12" "124270467" "124270467" "subst" "0.00108848" "02330" "DNAH10_000054" "g.124270467C>T" "" "" "" "DNAH10(NM_207437.3):c.1222C>T (p.L408=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123785920C>T" "" "benign" "" "0000622797" "0" "30" "12" "124320030" "124320030" "subst" "1.70263E-5" "02330" "DNAH10_000058" "g.124320030G>A" "" "" "" "DNAH10(NM_207437.3):c.4503G>A (p.P1501=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123835483G>A" "" "likely benign" "" "0000622798" "0" "10" "12" "124323011" "124323011" "subst" "0.00399199" "02330" "DNAH10_000061" "g.124323011T>C" "" "" "" "DNAH10(NM_207437.3):c.4557T>C (p.G1519=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123838464T>C" "" "benign" "" "0000622799" "0" "10" "12" "124323029" "124323029" "subst" "0.0104899" "02330" "DNAH10_000062" "g.124323029C>A" "" "" "" "DNAH10(NM_207437.3):c.4575C>A (p.P1525=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123838482C>A" "" "benign" "" "0000622800" "0" "10" "12" "124323081" "124323081" "subst" "0.00558019" "02330" "DNAH10_000063" "g.124323081G>A" "" "" "" "DNAH10(NM_207437.3):c.4627G>A (p.V1543I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123838534G>A" "" "benign" "" "0000622801" "0" "10" "12" "124330532" "124330532" "subst" "0.00552428" "02330" "DNAH10_000064" "g.124330532G>A" "" "" "" "DNAH10(NM_207437.3):c.5291G>A (p.R1764Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123845985G>A" "" "benign" "" "0000622802" "0" "10" "12" "124333367" "124333367" "subst" "0.00774784" "02330" "DNAH10_000031" "g.124333367G>A" "" "" "" "DNAH10(NM_207437.3):c.5686G>A (p.V1896M, p.(Val1896Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123848820G>A" "" "benign" "" "0000622803" "0" "30" "12" "124349236" "124349236" "subst" "0.00330644" "02330" "DNAH10_000007" "g.124349236G>C" "" "" "" "DNAH10(NM_001372106.1):c.7003G>C (p.(Glu2335Gln)), DNAH10(NM_207437.3):c.6649G>C (p.E2217Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123864689G>C" "" "likely benign" "" "0000622804" "0" "10" "12" "124352505" "124352505" "subst" "0.0111476" "02330" "DNAH10_000065" "g.124352505T>A" "" "" "" "DNAH10(NM_207437.3):c.7004T>A (p.L2335H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123867958T>A" "" "benign" "" "0000622805" "0" "10" "12" "124352590" "124352590" "subst" "0.0111932" "02330" "DNAH10_000066" "g.124352590C>T" "" "" "" "DNAH10(NM_207437.3):c.7089C>T (p.D2363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123868043C>T" "" "benign" "" "0000622806" "0" "10" "12" "124360032" "124360032" "subst" "0.0313623" "02330" "DNAH10_000069" "g.124360032C>T" "" "" "" "DNAH10(NM_207437.3):c.7839C>T (p.H2613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123875485C>T" "" "benign" "" "0000622807" "0" "30" "12" "124382430" "124382430" "subst" "0.00033324" "02330" "DNAH10_000071" "g.124382430A>G" "" "" "" "DNAH10(NM_207437.3):c.9040A>G (p.S3014G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123897883A>G" "" "likely benign" "" "0000622808" "0" "10" "12" "124394003" "124394003" "subst" "0.00463117" "02330" "DNAH10_000073" "g.124394003C>T" "" "" "" "DNAH10(NM_207437.3):c.9643+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123909456C>T" "" "benign" "" "0000622809" "0" "10" "12" "124401117" "124401117" "subst" "0.0177736" "02330" "DNAH10_000076" "g.124401117C>T" "" "" "" "DNAH10(NM_207437.3):c.10482C>T (p.N3494=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123916570C>T" "" "benign" "" "0000622810" "0" "10" "12" "124401172" "124401172" "subst" "0.0176732" "02330" "DNAH10_000077" "g.124401172G>A" "" "" "" "DNAH10(NM_207437.3):c.10537G>A (p.D3513N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123916625G>A" "" "benign" "" "0000622811" "0" "10" "12" "124409630" "124409630" "subst" "0.0177127" "02330" "DNAH10_000078" "g.124409630G>T" "" "" "" "DNAH10(NM_207437.3):c.11446G>T (p.V3816F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123925083G>T" "" "benign" "" "0000622812" "0" "10" "12" "124413145" "124413145" "subst" "0.00393892" "02330" "DNAH10_000080" "g.124413145A>G" "" "" "" "DNAH10(NM_207437.3):c.11952+11A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123928598A>G" "" "benign" "" "0000622813" "0" "30" "12" "124413959" "124413959" "subst" "0.00105045" "02330" "DNAH10_000081" "g.124413959G>A" "" "" "" "DNAH10(NM_207437.3):c.12090G>A (p.V4030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123929412G>A" "" "likely benign" "" "0000622814" "0" "10" "12" "124417989" "124417989" "subst" "0.00380738" "02330" "CCDC92_000003" "g.124417989C>T" "" "" "" "DNAH10(NM_207437.3):c.13054C>T (p.R4352C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123933442C>T" "" "benign" "" "0000648491" "1" "10" "12" "124337772" "124337772" "subst" "0.0281765" "03575" "DNAH10_000032" "g.124337772C>T" "181/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "181 heterozygous; {DB:CLININrs33935373}" "Germline" "" "rs33935373" "0" "" "" "g.123853225C>T" "" "benign" "" "0000648492" "1" "10" "12" "124387669" "124387669" "subst" "0.0421797" "03575" "DNAH10_000042" "g.124387669C>T" "91/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "91 heterozygous; {DB:CLININrs75558206}" "Germline" "" "rs75558206" "0" "" "" "g.123903122C>T" "" "benign" "" "0000657014" "0" "50" "12" "124281348" "124281348" "subst" "0.000142257" "01943" "DNAH10_000084" "g.124281348A>G" "" "" "" "DNAH10(NM_207437.3):c.1778A>G (p.Q593R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123796801A>G" "" "VUS" "" "0000657015" "0" "10" "12" "124298332" "124298332" "subst" "0.00537406" "02330" "DNAH10_000085" "g.124298332A>G" "" "" "" "DNAH10(NM_207437.3):c.3299A>G (p.N1100S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123813785A>G" "" "benign" "" "0000657016" "0" "10" "12" "124330189" "124330189" "subst" "0.0311116" "02330" "DNAH10_000086" "g.124330189C>T" "" "" "" "DNAH10(NM_207437.3):c.5049C>T (p.A1683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123845642C>T" "" "benign" "" "0000657017" "0" "10" "12" "124330542" "124330542" "subst" "0.0313114" "02330" "DNAH10_000030" "g.124330542C>A" "" "" "" "DNAH10(NM_207437.3):c.5301C>A (p.D1767E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123845995C>A" "" "benign" "" "0000657018" "0" "30" "12" "124330623" "124330623" "subst" "3.24944E-5" "02330" "DNAH10_000087" "g.124330623C>T" "" "" "" "DNAH10(NM_207437.3):c.5382C>T (p.Y1794=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123846076C>T" "" "likely benign" "" "0000657019" "0" "10" "12" "124337733" "124337733" "subst" "0.0153512" "02330" "DNAH10_000088" "g.124337733T>C" "" "" "" "DNAH10(NM_207437.3):c.5938-20T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123853186T>C" "" "benign" "" "0000657020" "0" "50" "12" "124341678" "124341678" "subst" "9.38829E-5" "02330" "DNAH10_000089" "g.124341678G>A" "" "" "" "DNAH10(NM_207437.3):c.6160G>A (p.G2054S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123857131G>A" "" "VUS" "" "0000657021" "0" "10" "12" "124354954" "124354954" "subst" "0.0118545" "02330" "DNAH10_000090" "g.124354954C>T" "" "" "" "DNAH10(NM_207437.3):c.7207C>T (p.R2403W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123870407C>T" "" "benign" "" "0000657022" "0" "10" "12" "124360037" "124360037" "subst" "0.0123351" "02330" "DNAH10_000034" "g.124360037C>T" "" "" "" "DNAH10(NM_207437.3):c.7844C>T (p.S2615L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123875490C>T" "" "benign" "" "0000657023" "0" "30" "12" "124382360" "124382360" "subst" "1.65774E-5" "01943" "DNAH10_000091" "g.124382360G>T" "" "" "" "DNAH10(NM_207437.3):c.8970G>T (p.V2990=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123897813G>T" "" "likely benign" "" "0000657025" "0" "10" "12" "124402341" "124402341" "subst" "0.00354692" "02330" "DNAH10_000051" "g.124402341C>T" "" "" "" "DNAH10(NM_207437.3):c.10859C>T (p.T3620I, p.(Thr3620Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123917794C>T" "" "benign" "" "0000657026" "0" "30" "12" "124413109" "124413109" "subst" "0.00188883" "02330" "DNAH10_000093" "g.124413109T>C" "" "" "" "DNAH10(NM_207437.3):c.11927T>C (p.I3976T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.123928562T>C" "" "likely benign" "" "0000669152" "3" "10" "12" "124337772" "124337772" "subst" "0.0281765" "03575" "DNAH10_000032" "g.124337772C>T" "5/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs33935373}" "Germline" "" "rs33935373" "0" "" "" "g.123853225C>T" "" "benign" "" "0000669153" "3" "10" "12" "124387669" "124387669" "subst" "0.0421797" "03575" "DNAH10_000042" "g.124387669C>T" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs75558206}" "Germline" "" "rs75558206" "0" "" "" "g.123903122C>T" "" "benign" "" "0000675082" "1" "50" "12" "124281312" "124281312" "subst" "3.24929E-5" "00006" "DNAH10_000094" "g.124281312G>A" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000675083" "2" "50" "12" "124419920" "124419920" "subst" "2.03052E-5" "00006" "DNAH10_000095" "g.124419920A>T" "" "{PMID:Pannone 2020:32721402}, {DOI:Pannone 2020:10.1016/j.ajhg.2020.06.018}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000679424" "0" "30" "12" "124332555" "124332555" "subst" "6.50417E-5" "02330" "DNAH10_000096" "g.124332555C>T" "" "" "" "DNAH10(NM_207437.3):c.5508C>T (p.T1836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679425" "0" "30" "12" "124352622" "124352622" "subst" "0" "01943" "DNAH10_000097" "g.124352622C>T" "" "" "" "DNAH10(NM_207437.3):c.7121C>T (p.T2374I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679426" "0" "30" "12" "124397851" "124397851" "subst" "0.00133184" "02330" "DNAH10_000098" "g.124397851A>G" "" "" "" "DNAH10(NM_207437.3):c.9987A>G (p.S3329=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691274" "0" "10" "12" "124383312" "124383312" "subst" "0.00310389" "02330" "DNAH10_000099" "g.124383312C>T" "" "" "" "DNAH10(NM_207437.3):c.9237C>T (p.S3079=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000691275" "0" "30" "12" "124409650" "124409650" "subst" "2.84273E-5" "01943" "DNAH10_000100" "g.124409650C>A" "" "" "" "DNAH10(NM_207437.3):c.11466C>A (p.N3822K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691276" "0" "50" "12" "124417935" "124417935" "subst" "0" "01943" "CCDC92_000004" "g.124417935T>C" "" "" "" "DNAH10(NM_207437.3):c.13000T>C (p.Y4334H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723893" "0" "30" "12" "124267781" "124267781" "subst" "1.62541E-5" "02330" "DNAH10_000101" "g.124267781G>A" "" "" "" "DNAH10(NM_207437.3):c.786G>A (p.A262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723894" "0" "10" "12" "124285870" "124285870" "subst" "0.00168546" "02330" "DNAH10_000102" "g.124285870G>T" "" "" "" "DNAH10(NM_207437.3):c.2151G>T (p.M717I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723895" "0" "10" "12" "124303707" "124303707" "subst" "0.00268242" "02330" "DNAH10_000103" "g.124303707G>A" "" "" "" "DNAH10(NM_207437.3):c.3556G>A (p.E1186K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723896" "0" "10" "12" "124332641" "124332641" "subst" "0.0132316" "02330" "DNAH10_000104" "g.124332641G>A" "" "" "" "DNAH10(NM_207437.3):c.5594G>A (p.R1865K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723897" "0" "10" "12" "124333351" "124333351" "subst" "0.00214137" "02330" "DNAH10_000105" "g.124333351T>C" "" "" "" "DNAH10(NM_207437.3):c.5670T>C (p.D1890=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723898" "0" "10" "12" "124371835" "124371835" "subst" "0.00217206" "02330" "DNAH10_000106" "g.124371835G>A" "" "" "" "DNAH10(NM_207437.3):c.8616G>A (p.E2872=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000723899" "0" "50" "12" "124393856" "124393856" "subst" "0" "02330" "DNAH10_000107" "g.124393856C>G" "" "" "" "DNAH10(NM_207437.3):c.9510C>G (p.I3170M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723900" "0" "30" "12" "124413089" "124413089" "subst" "0.000771165" "02330" "DNAH10_000108" "g.124413089C>A" "" "" "" "DNAH10(NM_207437.3):c.11907C>A (p.D3969E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723901" "0" "50" "12" "124414290" "124414290" "subst" "4.10587E-6" "02330" "DNAH10_000109" "g.124414290A>C" "" "" "" "DNAH10(NM_207437.3):c.12242A>C (p.K4081T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723902" "0" "30" "12" "124415116" "124415116" "subst" "8.42801E-5" "02330" "DNAH10_000110" "g.124415116T>C" "" "" "" "DNAH10(NM_207437.3):c.12426T>C (p.F4142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805576" "0" "10" "12" "124297903" "124297903" "subst" "0.00317631" "02330" "DNAH10_000111" "g.124297903C>T" "" "" "" "DNAH10(NM_207437.3):c.2983C>T (p.R995W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805577" "0" "30" "12" "124341740" "124341740" "subst" "2.47739E-5" "02330" "DNAH10_000112" "g.124341740C>T" "" "" "" "DNAH10(NM_207437.3):c.6222C>T (p.N2074=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805578" "0" "30" "12" "124358140" "124358140" "subst" "9.76253E-5" "02330" "DNAH10_000113" "g.124358140G>A" "" "" "" "DNAH10(NM_207437.3):c.7467G>A (p.T2489=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805579" "0" "30" "12" "124377896" "124377896" "subst" "0.000755404" "02330" "DNAH10_000114" "g.124377896G>A" "" "" "" "DNAH10(NM_207437.3):c.8758G>A (p.V2920M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805580" "0" "10" "12" "124398913" "124398913" "subst" "0.0053057" "02330" "DNAH10_000115" "g.124398913G>C" "" "" "" "DNAH10(NM_207437.3):c.10036G>C (p.V3346L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000805581" "0" "30" "12" "124401060" "124401060" "subst" "0.000276174" "02330" "DNAH10_000116" "g.124401060C>T" "" "" "" "DNAH10(NM_207437.3):c.10425C>T (p.Y3475=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805582" "0" "30" "12" "124401249" "124401249" "subst" "4.47795E-5" "02330" "DNAH10_000117" "g.124401249C>T" "" "" "" "DNAH10(NM_207437.3):c.10614C>T (p.S3538=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853299" "0" "10" "12" "124242471" "124242471" "del" "0" "02325" "ATP6V0A2_000031" "g.124242471del" "" "" "" "ATP6V0A2(NM_012463.3):c.2466-3delT, ATP6V0A2(NM_012463.4):c.2466-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853300" "0" "30" "12" "124252161" "124252161" "subst" "0.000491051" "02330" "DNAH10_000118" "g.124252161C>T" "" "" "" "DNAH10(NM_207437.3):c.40C>T (p.P14S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853301" "0" "10" "12" "124323125" "124323125" "subst" "0.00117372" "02330" "DNAH10_000119" "g.124323125C>T" "" "" "" "DNAH10(NM_207437.3):c.4671C>T (p.Y1557=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853302" "0" "30" "12" "124326111" "124326111" "subst" "0.000198488" "02330" "DNAH10_000120" "g.124326111A>G" "" "" "" "DNAH10(NM_207437.3):c.5006+19A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853303" "0" "10" "12" "124358220" "124358220" "subst" "0.00220264" "02330" "DNAH10_000121" "g.124358220G>A" "" "" "" "DNAH10(NM_207437.3):c.7547G>A (p.R2516H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000853304" "0" "10" "12" "124393827" "124393827" "subst" "0.00195973" "02330" "DNAH10_000122" "g.124393827A>G" "" "" "" "DNAH10(NM_207437.3):c.9481A>G (p.K3161E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000890374" "0" "10" "12" "124297903" "124297903" "subst" "0.00317631" "02326" "DNAH10_000111" "g.124297903C>T" "" "" "" "DNAH10(NM_207437.3):c.2983C>T (p.R995W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000980112" "0" "50" "12" "124366163" "124366163" "dup" "0" "01804" "DNAH10_000123" "g.124366163dup" "" "" "" "DNAH10(NM_001372106.1):c.8635-9dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000980113" "0" "30" "12" "124403499" "124403499" "subst" "0.00604257" "01804" "DNAH10_000124" "g.124403499G>A" "" "" "" "DNAH10(NM_001372106.1):c.11506+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000980114" "0" "50" "12" "124416504" "124416504" "subst" "4.06141E-6" "01804" "CCDC92_000005" "g.124416504T>G" "" "" "" "DNAH10(NM_001372106.1):c.13145T>G (p.(Val4382Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999804" "0" "50" "12" "124270360" "124270360" "subst" "2.03052E-5" "01804" "DNAH10_000125" "g.124270360G>A" "" "" "" "DNAH10(NM_207437.3):c.1115G>A (p.(Arg372Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000999805" "0" "50" "12" "124417899" "124417899" "subst" "0" "01804" "CCDC92_000006" "g.124417899G>A" "" "" "" "DNAH10(NM_207437.3):c.12964G>A (p.(Val4322Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001039057" "0" "50" "12" "124293452" "124293452" "subst" "8.12163E-6" "01804" "DNAH10_000126" "g.124293452C>T" "" "" "" "DNAH10(NM_001372106.1):c.3096C>T (p.(Ile1032=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001049780" "3" "50" "12" "124337781" "124337781" "subst" "0" "00006" "DNAH10_000128" "g.124337781A>G" "" "{PMID:Charng 2016:27435318}" "" "" "ACMG PM2, PP3" "Germline" "" "" "0" "" "" "g.123853234A>G" "" "VUS" "" "0001054554" "0" "50" "12" "124298029" "124298029" "subst" "0.000211243" "01804" "DNAH10_000127" "g.124298029C>T" "" "" "" "DNAH10(NM_001372106.1):c.3463C>T (p.(Arg1155Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001054555" "0" "50" "12" "124416362" "124416362" "subst" "8.12255E-6" "01804" "CCDC92_000007" "g.124416362C>T" "" "" "" "DNAH10(NM_001372106.1):c.13096C>T (p.(Arg4366Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065863" "0" "50" "12" "124270348" "124270348" "subst" "0.00146202" "02325" "DNAH10_000015" "g.124270348T>C" "" "" "" "DNAH10(NM_207437.3):c.1103T>C (p.M368T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065864" "0" "50" "12" "124399030" "124399030" "subst" "8.12473E-5" "02325" "DNAH10_000074" "g.124399030C>T" "" "" "" "DNAH10(NM_207437.3):c.10153C>T (p.R3385W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001065865" "0" "50" "12" "124399382" "124399382" "subst" "0.000214357" "02325" "DNAH10_000045" "g.124399382A>G" "" "" "" "DNAH10(NM_207437.3):c.10221-17A>G" "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 DNAH10 ## Count = 154 "{{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}}" "0000170300" "00006524" "50" "2003" "0" "2003" "0" "c.2003C>T" "r.(?)" "p.(Pro668Leu)" "" "0000170301" "00006524" "50" "5366" "0" "5366" "0" "c.5366C>T" "r.(?)" "p.(Thr1789Met)" "" "0000253856" "00006524" "10" "-4595" "0" "-4595" "0" "c.-4595A>T" "r.(?)" "p.(=)" "" "0000254834" "00006524" "30" "-4510" "0" "-4510" "0" "c.-4510A>G" "r.(?)" "p.(=)" "" "0000263308" "00006524" "10" "-4596" "0" "-4596" "0" "c.-4596del" "r.(?)" "p.(=)" "" "0000275170" "00006524" "30" "1584" "0" "1584" "0" "c.1584C>T" "r.(?)" "p.(Ser528=)" "" "0000275171" "00006524" "30" "270" "0" "270" "0" "c.270T>C" "r.(?)" "p.(Leu90=)" "" "0000275172" "00006524" "50" "8205" "0" "8205" "0" "c.8205G>C" "r.(?)" "p.(Gln2735His)" "" "0000323201" "00006524" "50" "-4595" "0" "-4595" "0" "c.-4595A>T" "r.(?)" "p.(=)" "" "0000323202" "00006524" "50" "5099" "0" "5099" "0" "c.5099C>A" "r.(?)" "p.(Ala1700Glu)" "" "0000323203" "00006524" "50" "6117" "0" "6117" "0" "c.6117G>C" "r.(?)" "p.(Met2039Ile)" "" "0000323204" "00006524" "30" "6649" "0" "6649" "0" "c.6649G>C" "r.(?)" "p.(Glu2217Gln)" "" "0000546954" "00006524" "10" "-4596" "0" "-4596" "0" "c.-4596dup" "r.(?)" "p.(=)" "" "0000546955" "00006524" "30" "-4595" "0" "-4592" "0" "c.-4595_-4592del" "r.(?)" "p.(=)" "" "0000546956" "00006524" "30" "-4594" "0" "-4594" "0" "c.-4594G>T" "r.(?)" "p.(=)" "" "0000546957" "00006524" "30" "-4593" "0" "-4593" "0" "c.-4593G>T" "r.(?)" "p.(=)" "" "0000546958" "00006524" "30" "-4592" "0" "-4592" "0" "c.-4592G>T" "r.(?)" "p.(=)" "" "0000546959" "00006524" "30" "-4591" "0" "-4590" "0" "c.-4591_-4590insTTTT" "r.(?)" "p.(=)" "" "0000546963" "00006524" "10" "499" "0" "499" "0" "c.499T>C" "r.(?)" "p.(Ser167Pro)" "" "0000546964" "00006524" "10" "659" "-16" "659" "-16" "c.659-16A>G" "r.(=)" "p.(=)" "" "0000546965" "00006524" "10" "708" "0" "708" "0" "c.708T>C" "r.(?)" "p.(Ser236=)" "" "0000546966" "00006524" "30" "785" "0" "785" "0" "c.785C>T" "r.(?)" "p.(Ala262Val)" "" "0000546967" "00006524" "30" "817" "0" "817" "0" "c.817G>A" "r.(?)" "p.(Gly273Ser)" "" "0000546968" "00006524" "30" "1103" "0" "1103" "0" "c.1103T>C" "r.(?)" "p.(Met368Thr)" "" "0000546969" "00006524" "50" "1211" "0" "1211" "0" "c.1211G>A" "r.(?)" "p.(Arg404Gln)" "" "0000546970" "00006524" "50" "1330" "0" "1330" "0" "c.1330A>T" "r.(?)" "p.(Ile444Leu)" "" "0000546971" "00006524" "10" "1438" "0" "1438" "0" "c.1438A>G" "r.(?)" "p.(Ile480Val)" "" "0000546972" "00006524" "10" "1752" "0" "1752" "0" "c.1752T>C" "r.(?)" "p.(His584=)" "" "0000546973" "00006524" "10" "1818" "0" "1818" "0" "c.1818A>G" "r.(?)" "p.(Gln606=)" "" "0000546974" "00006524" "30" "2195" "0" "2195" "0" "c.2195A>G" "r.(?)" "p.(Asp732Gly)" "" "0000546975" "00006524" "10" "2265" "0" "2265" "0" "c.2265C>T" "r.(?)" "p.(Ile755=)" "" "0000546976" "00006524" "10" "2317" "0" "2317" "0" "c.2317G>A" "r.(?)" "p.(Val773Ile)" "" "0000546977" "00006524" "10" "3110" "0" "3110" "0" "c.3110G>A" "r.(?)" "p.(Arg1037His)" "" "0000546978" "00006524" "10" "3157" "0" "3157" "0" "c.3157C>T" "r.(?)" "p.(His1053Tyr)" "" "0000546979" "00006524" "50" "3221" "0" "3221" "0" "c.3221A>G" "r.(?)" "p.(Asn1074Ser)" "" "0000546980" "00006524" "10" "4405" "0" "4405" "0" "c.4405C>T" "r.(?)" "p.(Leu1469=)" "" "0000546981" "00006524" "10" "4891" "0" "4891" "0" "c.4891T>G" "r.(?)" "p.(Leu1631Val)" "" "0000546982" "00006524" "10" "5171" "0" "5171" "0" "c.5171C>T" "r.(?)" "p.(Thr1724Met)" "" "0000546984" "00006524" "30" "5686" "0" "5686" "0" "c.5686G>A" "r.(?)" "p.(Val1896Met)" "" "0000546985" "00006524" "10" "5957" "0" "5957" "0" "c.5957C>T" "r.(?)" "p.(Thr1986Met)" "" "0000546986" "00006524" "50" "7102" "0" "7102" "0" "c.7102C>T" "r.(?)" "p.(Arg2368Cys)" "" "0000546988" "00006524" "10" "8281" "-10" "8281" "-9" "c.8281-10_8281-9del" "r.(=)" "p.(=)" "" "0000546989" "00006524" "10" "8281" "-9" "8281" "-9" "c.8281-9del" "r.(=)" "p.(=)" "" "0000546990" "00006524" "10" "8470" "-5" "8470" "-5" "c.8470-5C>T" "r.spl?" "p.?" "" "0000546991" "00006524" "10" "8676" "0" "8676" "0" "c.8676A>G" "r.(?)" "p.(Lys2892=)" "" "0000546992" "00006524" "10" "8845" "9" "8845" "9" "c.8845+9G>A" "r.(=)" "p.(=)" "" "0000546993" "00006524" "10" "9375" "0" "9375" "0" "c.9375G>A" "r.(?)" "p.(Glu3125=)" "" "0000546994" "00006524" "10" "9387" "0" "9387" "0" "c.9387A>G" "r.(?)" "p.(Ala3129=)" "" "0000546995" "00006524" "10" "9461" "9" "9461" "9" "c.9461+9C>T" "r.(=)" "p.(=)" "" "0000546996" "00006524" "30" "9711" "0" "9711" "0" "c.9711G>A" "r.(?)" "p.(Met3237Ile)" "" "0000546997" "00006524" "10" "10128" "0" "10128" "0" "c.10128G>A" "r.(?)" "p.(Arg3376=)" "" "0000546998" "00006524" "30" "10221" "-17" "10221" "-17" "c.10221-17A>G" "r.(=)" "p.(=)" "" "0000546999" "00006524" "30" "10258" "0" "10258" "0" "c.10258G>A" "r.(?)" "p.(Val3420Ile)" "" "0000547000" "00006524" "30" "10366" "0" "10366" "0" "c.10366C>T" "r.(?)" "p.(Arg3456Trp)" "" "0000547001" "00006524" "10" "10368" "4" "10368" "4" "c.10368+4T>C" "r.spl?" "p.?" "" "0000547002" "00006524" "10" "10392" "0" "10392" "0" "c.10392C>A" "r.(?)" "p.(Asp3464Glu)" "" "0000547003" "00006524" "30" "10683" "0" "10683" "0" "c.10683C>T" "r.(?)" "p.(Ser3561=)" "" "0000547004" "00006524" "30" "10859" "0" "10859" "0" "c.10859C>T" "r.(?)" "p.(Thr3620Ile)" "" "0000547005" "00006524" "10" "11752" "-6" "11752" "-6" "c.11752-6G>A" "r.(=)" "p.(=)" "" "0000547007" "00006524" "10" "12954" "0" "12954" "0" "c.12954C>T" "r.(?)" "p.(Ser4318=)" "" "0000547008" "00006524" "10" "13038" "0" "13038" "0" "c.13038C>T" "r.(?)" "p.(Asn4346=)" "" "0000613923" "00006524" "30" "474" "0" "474" "0" "c.474G>A" "r.(?)" "p.(Arg158=)" "" "0000613924" "00006524" "10" "1270" "0" "1270" "0" "c.1270T>C" "r.(?)" "p.(Leu424=)" "" "0000613925" "00006524" "30" "2700" "0" "2700" "0" "c.2700G>C" "r.(?)" "p.(Leu900=)" "" "0000613926" "00006524" "10" "2703" "0" "2703" "0" "c.2703G>A" "r.(?)" "p.(Thr901=)" "" "0000613927" "00006524" "10" "4548" "12" "4548" "12" "c.4548+12G>A" "r.(=)" "p.(=)" "" "0000613928" "00006524" "10" "4552" "0" "4552" "0" "c.4552A>G" "r.(?)" "p.(Met1518Val)" "" "0000613929" "00006524" "10" "7448" "0" "7448" "0" "c.7448A>G" "r.(?)" "p.(Asn2483Ser)" "" "0000613930" "00006524" "30" "7527" "0" "7527" "0" "c.7527C>T" "r.(?)" "p.(Tyr2509=)" "" "0000613931" "00006524" "30" "8470" "-15" "8470" "-15" "c.8470-15G>T" "r.(=)" "p.(=)" "" "0000613932" "00006524" "10" "9186" "0" "9186" "0" "c.9186C>T" "r.(?)" "p.(Asp3062=)" "" "0000613933" "00006524" "50" "10153" "0" "10153" "0" "c.10153C>T" "r.(?)" "p.(Arg3385Trp)" "" "0000613934" "00006524" "30" "10221" "-13" "10221" "-13" "c.10221-13C>G" "r.(=)" "p.(=)" "" "0000613935" "00006524" "50" "11789" "0" "11789" "0" "c.11789G>A" "r.(?)" "p.(Gly3930Glu)" "" "0000613936" "00006524" "30" "12212" "0" "12212" "0" "c.12212G>A" "r.(?)" "p.(Arg4071Gln)" "" "0000622796" "00006524" "10" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Leu408=)" "" "0000622797" "00006524" "30" "4503" "0" "4503" "0" "c.4503G>A" "r.(?)" "p.(Pro1501=)" "" "0000622798" "00006524" "10" "4557" "0" "4557" "0" "c.4557T>C" "r.(?)" "p.(Gly1519=)" "" "0000622799" "00006524" "10" "4575" "0" "4575" "0" "c.4575C>A" "r.(?)" "p.(Pro1525=)" "" "0000622800" "00006524" "10" "4627" "0" "4627" "0" "c.4627G>A" "r.(?)" "p.(Val1543Ile)" "" "0000622801" "00006524" "10" "5291" "0" "5291" "0" "c.5291G>A" "r.(?)" "p.(Arg1764Gln)" "" "0000622802" "00006524" "10" "5686" "0" "5686" "0" "c.5686G>A" "r.(?)" "p.(Val1896Met)" "" "0000622803" "00006524" "30" "6649" "0" "6649" "0" "c.6649G>C" "r.(?)" "p.(Glu2217Gln)" "" "0000622804" "00006524" "10" "7004" "0" "7004" "0" "c.7004T>A" "r.(?)" "p.(Leu2335His)" "" "0000622805" "00006524" "10" "7089" "0" "7089" "0" "c.7089C>T" "r.(?)" "p.(Asp2363=)" "" "0000622806" "00006524" "10" "7839" "0" "7839" "0" "c.7839C>T" "r.(?)" "p.(His2613=)" "" "0000622807" "00006524" "30" "9040" "0" "9040" "0" "c.9040A>G" "r.(?)" "p.(Ser3014Gly)" "" "0000622808" "00006524" "10" "9643" "14" "9643" "14" "c.9643+14C>T" "r.(=)" "p.(=)" "" "0000622809" "00006524" "10" "10482" "0" "10482" "0" "c.10482C>T" "r.(?)" "p.(Asn3494=)" "" "0000622810" "00006524" "10" "10537" "0" "10537" "0" "c.10537G>A" "r.(?)" "p.(Asp3513Asn)" "" "0000622811" "00006524" "10" "11446" "0" "11446" "0" "c.11446G>T" "r.(?)" "p.(Val3816Phe)" "" "0000622812" "00006524" "10" "11952" "11" "11952" "11" "c.11952+11A>G" "r.(=)" "p.(=)" "" "0000622813" "00006524" "30" "12090" "0" "12090" "0" "c.12090G>A" "r.(?)" "p.(Val4030=)" "" "0000622814" "00006524" "10" "13054" "0" "13054" "0" "c.13054C>T" "r.(?)" "p.(Arg4352Cys)" "" "0000648491" "00006524" "10" "5957" "0" "5957" "0" "c.5957C>T" "r.(?)" "p.(Thr1986Met)" "" "0000648492" "00006524" "10" "9461" "9" "9461" "9" "c.9461+9C>T" "r.(=)" "p.(=)" "" "0000657014" "00006524" "50" "1778" "0" "1778" "0" "c.1778A>G" "r.(?)" "p.(Gln593Arg)" "" "0000657015" "00006524" "10" "3299" "0" "3299" "0" "c.3299A>G" "r.(?)" "p.(Asn1100Ser)" "" "0000657016" "00006524" "10" "5049" "0" "5049" "0" "c.5049C>T" "r.(?)" "p.(Ala1683=)" "" "0000657017" "00006524" "10" "5301" "0" "5301" "0" "c.5301C>A" "r.(?)" "p.(Asp1767Glu)" "" "0000657018" "00006524" "30" "5382" "0" "5382" "0" "c.5382C>T" "r.(?)" "p.(Tyr1794=)" "" "0000657019" "00006524" "10" "5938" "-20" "5938" "-20" "c.5938-20T>C" "r.(=)" "p.(=)" "" "0000657020" "00006524" "50" "6160" "0" "6160" "0" "c.6160G>A" "r.(?)" "p.(Gly2054Ser)" "" "0000657021" "00006524" "10" "7207" "0" "7207" "0" "c.7207C>T" "r.(?)" "p.(Arg2403Trp)" "" "0000657022" "00006524" "10" "7844" "0" "7844" "0" "c.7844C>T" "r.(?)" "p.(Ser2615Leu)" "" "0000657023" "00006524" "30" "8970" "0" "8970" "0" "c.8970G>T" "r.(?)" "p.(Val2990=)" "" "0000657025" "00006524" "10" "10859" "0" "10859" "0" "c.10859C>T" "r.(?)" "p.(Thr3620Ile)" "" "0000657026" "00006524" "30" "11927" "0" "11927" "0" "c.11927T>C" "r.(?)" "p.(Ile3976Thr)" "" "0000669152" "00006524" "10" "5957" "0" "5957" "0" "c.5957C>T" "r.(?)" "p.(Thr1986Met)" "" "0000669153" "00006524" "10" "9461" "9" "9461" "9" "c.9461+9C>T" "r.(=)" "p.(=)" "" "0000675082" "00006524" "50" "1742" "0" "1742" "0" "c.1742G>A" "r.(?)" "p.(Arg581Gln)" "" "0000675083" "00006524" "50" "13308" "0" "13308" "0" "c.13308A>T" "r.(?)" "p.(Arg4436Ser)" "" "0000679424" "00006524" "30" "5508" "0" "5508" "0" "c.5508C>T" "r.(?)" "p.(Thr1836=)" "" "0000679425" "00006524" "30" "7121" "0" "7121" "0" "c.7121C>T" "r.(?)" "p.(Thr2374Ile)" "" "0000679426" "00006524" "30" "9987" "0" "9987" "0" "c.9987A>G" "r.(?)" "p.(Ser3329=)" "" "0000691274" "00006524" "10" "9237" "0" "9237" "0" "c.9237C>T" "r.(?)" "p.(Ser3079=)" "" "0000691275" "00006524" "30" "11466" "0" "11466" "0" "c.11466C>A" "r.(?)" "p.(Asn3822Lys)" "" "0000691276" "00006524" "50" "13000" "0" "13000" "0" "c.13000T>C" "r.(?)" "p.(Tyr4334His)" "" "0000723893" "00006524" "30" "786" "0" "786" "0" "c.786G>A" "r.(?)" "p.(Ala262=)" "" "0000723894" "00006524" "10" "2151" "0" "2151" "0" "c.2151G>T" "r.(?)" "p.(Met717Ile)" "" "0000723895" "00006524" "10" "3556" "0" "3556" "0" "c.3556G>A" "r.(?)" "p.(Glu1186Lys)" "" "0000723896" "00006524" "10" "5594" "0" "5594" "0" "c.5594G>A" "r.(?)" "p.(Arg1865Lys)" "" "0000723897" "00006524" "10" "5670" "0" "5670" "0" "c.5670T>C" "r.(?)" "p.(Asp1890=)" "" "0000723898" "00006524" "10" "8616" "0" "8616" "0" "c.8616G>A" "r.(?)" "p.(Glu2872=)" "" "0000723899" "00006524" "50" "9510" "0" "9510" "0" "c.9510C>G" "r.(?)" "p.(Ile3170Met)" "" "0000723900" "00006524" "30" "11907" "0" "11907" "0" "c.11907C>A" "r.(?)" "p.(Asp3969Glu)" "" "0000723901" "00006524" "50" "12242" "0" "12242" "0" "c.12242A>C" "r.(?)" "p.(Lys4081Thr)" "" "0000723902" "00006524" "30" "12426" "0" "12426" "0" "c.12426T>C" "r.(?)" "p.(Phe4142=)" "" "0000805576" "00006524" "10" "2983" "0" "2983" "0" "c.2983C>T" "r.(?)" "p.(Arg995Trp)" "" "0000805577" "00006524" "30" "6222" "0" "6222" "0" "c.6222C>T" "r.(?)" "p.(Asn2074=)" "" "0000805578" "00006524" "30" "7467" "0" "7467" "0" "c.7467G>A" "r.(?)" "p.(Thr2489=)" "" "0000805579" "00006524" "30" "8758" "0" "8758" "0" "c.8758G>A" "r.(?)" "p.(Val2920Met)" "" "0000805580" "00006524" "10" "10036" "0" "10036" "0" "c.10036G>C" "r.(?)" "p.(Val3346Leu)" "" "0000805581" "00006524" "30" "10425" "0" "10425" "0" "c.10425C>T" "r.(?)" "p.(Tyr3475=)" "" "0000805582" "00006524" "30" "10614" "0" "10614" "0" "c.10614C>T" "r.(?)" "p.(Ser3538=)" "" "0000853299" "00006524" "10" "-4596" "0" "-4596" "0" "c.-4596del" "r.(?)" "p.(=)" "" "0000853300" "00006524" "30" "40" "0" "40" "0" "c.40C>T" "r.(?)" "p.(Pro14Ser)" "" "0000853301" "00006524" "10" "4671" "0" "4671" "0" "c.4671C>T" "r.(?)" "p.(Tyr1557=)" "" "0000853302" "00006524" "30" "5006" "19" "5006" "19" "c.5006+19A>G" "r.(=)" "p.(=)" "" "0000853303" "00006524" "10" "7547" "0" "7547" "0" "c.7547G>A" "r.(?)" "p.(Arg2516His)" "" "0000853304" "00006524" "10" "9481" "0" "9481" "0" "c.9481A>G" "r.(?)" "p.(Lys3161Glu)" "" "0000890374" "00006524" "10" "2983" "0" "2983" "0" "c.2983C>T" "r.(?)" "p.(Arg995Trp)" "" "0000980112" "00006524" "50" "8281" "-9" "8281" "-9" "c.8281-9dup" "r.(=)" "p.(=)" "" "0000980113" "00006524" "30" "11152" "3" "11152" "3" "c.11152+3G>A" "r.spl?" "p.?" "" "0000980114" "00006524" "50" "12791" "0" "12791" "0" "c.12791T>G" "r.(?)" "p.(Val4264Gly)" "" "0000999804" "00006524" "50" "1115" "0" "1115" "0" "c.1115G>A" "r.(?)" "p.(Arg372Gln)" "" "0000999805" "00006524" "50" "12964" "0" "12964" "0" "c.12964G>A" "r.(?)" "p.(Val4322Met)" "" "0001039057" "00006524" "50" "2742" "0" "2742" "0" "c.2742C>T" "r.(?)" "p.(Ile914=)" "" "0001049780" "00006524" "50" "5966" "0" "5966" "0" "c.5966A>G" "r.(?)" "p.(Tyr1989Cys)" "" "0001054554" "00006524" "50" "3109" "0" "3109" "0" "c.3109C>T" "r.(?)" "p.(Arg1037Cys)" "" "0001054555" "00006524" "50" "12742" "0" "12742" "0" "c.12742C>T" "r.(?)" "p.(Arg4248Trp)" "" "0001065863" "00006524" "50" "1103" "0" "1103" "0" "c.1103T>C" "r.(?)" "p.(Met368Thr)" "" "0001065864" "00006524" "50" "10153" "0" "10153" "0" "c.10153C>T" "r.(?)" "p.(Arg3385Trp)" "" "0001065865" "00006524" "50" "10221" "-17" "10221" "-17" "c.10221-17A>G" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000105039" "0000170300" "0000105039" "0000170301" "0000291802" "0000648491" "0000291803" "0000648492" "0000305464" "0000669152" "0000305465" "0000669153" "0000308218" "0000675082" "0000308218" "0000675083" "0000469464" "0001049780"