### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC103) # 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}}" "CCDC103" "coiled-coil domain containing 103" "17" "q21.31" "unknown" "NG_032792.1" "UD_145623668742" "" "http://www.LOVD.nl/CCDC103" "" "1" "32700" "388389" "614677" "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" "00006" "2016-09-01 00:00:00" "" "" "00000" "2025-07-08 13:22:38" ## 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}}" "00024167" "CCDC103" "transcript variant 1" "003" "NM_213607.2" "" "NP_998772.1" "" "" "" "-157" "1591" "729" "42977080" "42981047" "00006" "2016-09-13 16:46:52" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00124" "MFDGA;MFDM" "dysostosis, mandibulofacial, Guion-Almeida type" "AD" "610536" "" "" "" "00001" "2013-05-02 11:49:16" "00006" "2026-03-17 12:12:35" "03703" "CILD17" "dyskinesia, ciliary, primary, 17 (CILD-17)" "AR" "614679" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CCDC103" "03703" ## Individuals ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00001636" "" "" "" "1" "" "00006" "{PMID:Lines 2012:22305528}" "" "F" "no" "" "" "0" "" "" "" "" "00081098" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{individualid}}" "{{diseaseid}}" "00001636" "00124" "00081098" "03703" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00124, 03703 ## Count = 2 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000000803" "00124" "00001636" "00076" "Isolated (sporadic)" "" "IUGR; Malar hypoplasia; Micrognathia; Upslanting of obliquity of palpebrae; Microtia; Unilateral preauricular tags; Unilateral auditory canal atresia/stenosis; Conductive hearing loss; Midline cleft palate; Moderate to severe global developmental delay; Walking at 24-36m; Congenital heart defect(VSD; 46,XX; no seizures" "" "40w; weight 2610 (-2)" "87cm (-1.75); 13.4Kg (+0); 43.5cm (-4)" "" "" "" "" "" "MFDGA" "" "0000060667" "03703" "00081098" "01758" "Familial, autosomal recessive" "" "Ciliary dyskinesia, primary, 17 (OMIM:614679)" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001436" "00001636" "1" "00006" "00006" "2013-07-28 14:59:43" "" "" "arrayCNV" "DNA" "" "" "0000081210" "00081098" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000081210" "CCDC103" ## 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 = 42 "{{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}}" "0000019225" "0" "55" "17" "42792021" "43147305" "del" "0" "00006" "DBF4B_000002" "g.42792021_43147305del" "" "" "" "" "array 42792021–43147305x1" "Unknown" "" "" "0" "" "" "g.44714653_45069937del" "" "VUS" "" "0000130296" "3" "90" "17" "42979917" "42979917" "subst" "0.0012226" "01758" "CCDC103_000001" "g.42979917A>C" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.44902549A>C" "" "pathogenic" "ACMG" "0000266521" "0" "10" "17" "42980189" "42980189" "subst" "0.271987" "02325" "CCDC103_000005" "g.42980189G>A" "" "" "" "CCDC103(NM_001258397.3):c.*483G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44902821G>A" "" "benign" "" "0000266522" "0" "10" "17" "42979670" "42979670" "subst" "0.268651" "02325" "CCDC103_000003" "g.42979670C>A" "" "" "" "CCDC103(NM_001258397.3):c.277-16C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44902302C>A" "" "benign" "" "0000281021" "0" "10" "17" "42987524" "42987524" "subst" "0.268691" "02325" "GFAP_000003" "g.42987524T>C" "" "" "" "GFAP(NM_001131019.3):c.1276A>G (p.T426A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44910156T>C" "" "benign" "" "0000284626" "0" "30" "17" "42985442" "42985442" "subst" "8.54165E-5" "02326" "GFAP_000001" "g.42985442C>T" "" "" "" "GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44908074C>T" "" "likely benign" "" "0000288289" "0" "30" "17" "42987946" "42987946" "subst" "9.20381E-5" "01943" "GFAP_000007" "g.42987946C>T" "" "" "" "GFAP(NM_001242376.1):c.1208G>A (p.S403N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44910578C>T" "" "likely benign" "" "0000325447" "0" "50" "17" "42978401" "42978401" "subst" "0" "01804" "CCDC103_000002" "g.42978401T>C" "" "" "" "CCDC103(NM_001258395.1):c.35T>C (p.(Leu12Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44901033T>C" "" "VUS" "" "0000325448" "0" "30" "17" "42980166" "42980166" "subst" "0" "01804" "CCDC103_000004" "g.42980166A>G" "" "" "" "CCDC103(NM_001258395.1):c.710A>G (p.(Glu237Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44902798A>G" "" "likely benign" "" "0000325449" "0" "30" "17" "42987512" "42987512" "subst" "0.022977" "01804" "GFAP_000002" "g.42987512G>A" "" "" "" "GFAP(NM_001131019.2):c.1288C>T (p.(Arg430Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44910144G>A" "" "likely benign" "" "0000325450" "0" "30" "17" "42987562" "42987562" "subst" "0.00037844" "01804" "GFAP_000004" "g.42987562C>T" "" "" "" "GFAP(NM_001131019.2):c.1238G>A (p.(Arg413Gln)), GFAP(NM_001363846.1):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44910194C>T" "" "likely benign" "" "0000325451" "0" "50" "17" "42987595" "42987595" "subst" "1.63092E-5" "01804" "GFAP_000005" "g.42987595T>G" "" "" "" "GFAP(NM_001131019.2):c.1205A>C (p.(Lys402Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44910227T>G" "" "VUS" "" "0000325452" "0" "50" "17" "42987844" "42987844" "subst" "1.9668E-5" "01804" "GFAP_000006" "g.42987844C>T" "" "" "" "GFAP(NM_001131019.2):c.1171+139G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44910476C>T" "" "VUS" "" "0000561955" "0" "50" "17" "42978436" "42978436" "subst" "4.2917E-6" "01804" "EFTUD2_000117" "g.42978436G>A" "" "" "" "CCDC103(NM_001258395.1):c.70G>A (p.(Glu24Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44901068G>A" "" "VUS" "" "0000561956" "0" "50" "17" "42979917" "42979917" "subst" "0.0012226" "01804" "CCDC103_000001" "g.42979917A>C" "" "" "" "CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44902549A>C" "" "VUS" "" "0000561957" "0" "90" "17" "42979917" "42979917" "subst" "0.0012226" "02325" "CCDC103_000001" "g.42979917A>C" "" "" "" "CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44902549A>C" "" "pathogenic" "" "0000561958" "0" "90" "17" "42979917" "42979917" "subst" "0.0012226" "02329" "CCDC103_000001" "g.42979917A>C" "" "" "" "CCDC103(NM_001258395.1):c.461A>C (p.(His154Pro)), CCDC103(NM_213607.3):c.461A>C (p.H154P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44902549A>C" "" "pathogenic" "" "0000561959" "0" "50" "17" "42984719" "42984719" "subst" "0" "02327" "GFAP_000025" "g.42984719A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44907351A>G" "" "VUS" "" "0000561960" "0" "50" "17" "42985442" "42985442" "subst" "8.54165E-5" "01804" "GFAP_000001" "g.42985442C>T" "" "" "" "GFAP(NM_001131019.2):c.*2062G>A (p.(=)), GFAP(NM_002055.4):c.1247G>A (p.R416Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44908074C>T" "" "VUS" "" "0000561961" "0" "30" "17" "42985468" "42985468" "subst" "4.06303E-6" "01943" "GFAP_000026" "g.42985468G>A" "" "" "" "GFAP(NM_002055.4):c.1221C>T (p.N407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44908100G>A" "" "likely benign" "" "0000561963" "0" "30" "17" "42987562" "42987562" "subst" "0.00037844" "01943" "GFAP_000004" "g.42987562C>T" "" "" "" "GFAP(NM_001131019.2):c.1238G>A (p.(Arg413Gln)), GFAP(NM_001363846.1):c.1238G>A (p.R413Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910194C>T" "" "likely benign" "" "0000561964" "0" "50" "17" "42987565" "42987569" "del" "0" "01804" "GFAP_000028" "g.42987565_42987569del" "" "" "" "GFAP(NM_001131019.2):c.1233_1237del (p.(Ile412SerfsTer32))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910197_44910201del" "" "VUS" "" "0000616630" "0" "50" "17" "42987509" "42987509" "subst" "7.32017E-5" "01943" "GFAP_000027" "g.42987509C>T" "" "" "" "GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44910141C>T" "" "VUS" "" "0000623696" "0" "50" "17" "42985467" "42985467" "subst" "2.84407E-5" "02325" "GFAP_000051" "g.42985467T>C" "" "" "" "GFAP(NM_002055.5):c.1222A>G (p.I408V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44908099T>C" "" "VUS" "" "0000658153" "0" "50" "17" "42977229" "42977229" "subst" "0" "01804" "EFTUD2_000125" "g.42977229T>C" "" "" "" "CCDC103(NM_001258397.1):c.-10+2T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44899861T>C" "" "VUS" "" "0000680902" "0" "30" "17" "42982282" "42982282" "subst" "0" "01804" "GFAP_000057" "g.42982282A>C" "" "" "" "CCDC103(XM_005257352.1):c.1085A>C (p.(His362Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000726455" "0" "50" "17" "42987509" "42987509" "subst" "7.32017E-5" "02329" "GFAP_000027" "g.42987509C>T" "" "" "" "GFAP(NM_001131019.2):c.1291G>A (p.G431S), GFAP(NM_001363846.1):c.1291G>A (p.E431K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808044" "0" "50" "17" "42985433" "42985433" "subst" "1.6271E-5" "02329" "GFAP_000062" "g.42985433T>C" "" "" "" "GFAP(NM_001363846.1):c.1376A>G (p.E459G), GFAP(NM_002055.4):c.1256A>G (p.(Glu419Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808045" "0" "30" "17" "42987963" "42987963" "subst" "3.47745E-5" "01943" "GFAP_000063" "g.42987963C>G" "" "" "" "GFAP(NM_001242376.1):c.1191G>C (p.S397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000865317" "0" "50" "17" "42987563" "42987563" "subst" "0.000118014" "01804" "GFAP_000064" "g.42987563G>A" "" "" "" "GFAP(NM_001131019.2):c.1237C>T (p.(Arg413*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000865318" "0" "30" "17" "42987962" "42987962" "subst" "2.90306E-5" "01804" "GFAP_000065" "g.42987962A>G" "" "" "" "GFAP(NM_001131019.2):c.1171+21T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000893966" "0" "90" "17" "42985443" "42985443" "subst" "0" "02325" "GFAP_000073" "g.42985443G>A" "" "" "" "GFAP(NM_002055.5):c.1246C>T (p.R416W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000982551" "0" "50" "17" "42978397" "42978397" "subst" "0.000233832" "01804" "EFTUD2_000147" "g.42978397G>C" "" "" "" "CCDC103(NM_001258395.1):c.31G>C (p.(Ala11Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982552" "0" "50" "17" "42979785" "42979785" "subst" "4.87401E-5" "01804" "EFTUD2_000148" "g.42979785G>A" "" "" "" "CCDC103(NM_213607.3):c.329G>A (p.(Arg110Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000982553" "0" "50" "17" "42988006" "42988006" "subst" "0" "02329" "GFAP_000083" "g.42988006G>A" "" "" "" "GFAP(NM_002055.5):c.1148C>T (p.T383I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003325" "0" "50" "17" "42985433" "42985433" "subst" "1.6271E-5" "01804" "GFAP_000062" "g.42985433T>C" "" "" "" "GFAP(NM_001363846.1):c.1376A>G (p.E459G), GFAP(NM_002055.4):c.1256A>G (p.(Glu419Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001003326" "0" "30" "17" "42988010" "42988010" "subst" "1.00069E-5" "01804" "GFAP_000084" "g.42988010G>C" "" "" "" "GFAP(NM_002055.4):c.1144C>G (p.(Gln382Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001003327" "0" "50" "17" "42988013" "42988013" "subst" "0" "01804" "GFAP_000085" "g.42988013C>T" "" "" "" "GFAP(NM_002055.4):c.1141G>A (p.(Val381Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026951" "0" "50" "17" "42978374" "42978374" "subst" "4.20911E-6" "01804" "EFTUD2_000156" "g.42978374G>A" "" "" "" "CCDC103(NM_001258395.1):c.8G>A (p.(Arg3Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026952" "0" "50" "17" "42979916" "42979916" "subst" "0" "01804" "EFTUD2_000157" "g.42979916C>G" "" "" "" "CCDC103(NM_001258395.1):c.460C>G (p.(His154Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001041917" "0" "30" "17" "42987516" "42987516" "subst" "0.000577466" "01804" "GFAP_000130" "g.42987516C>T" "" "" "" "GFAP(NM_001131019.2):c.1284G>A (p.(Pro428=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046644" "0" "50" "17" "42988057" "42988057" "subst" "0" "01804" "GFAP_000132" "g.42988057G>T" "" "" "" "GFAP(NM_001131019.2):c.1128-31C>A (p.(=))" "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 CCDC103 ## Count = 42 "{{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}}" "0000019225" "00024167" "00" "-185216" "0" "167849" "0" "c.-185216_*167120del" "r.0?" "p.0?" "" "0000130296" "00024167" "90" "461" "0" "461" "0" "c.461A>C" "r.(?)" "p.(His154Pro)" "" "0000266521" "00024167" "10" "733" "0" "733" "0" "c.*4G>A" "r.(=)" "p.(=)" "" "0000266522" "00024167" "10" "277" "-63" "277" "-63" "c.277-63C>A" "r.(=)" "p.(=)" "" "0000281021" "00024167" "10" "8068" "0" "8068" "0" "c.*7339T>C" "r.(=)" "p.(=)" "" "0000284626" "00024167" "30" "5986" "0" "5986" "0" "c.*5257C>T" "r.(=)" "p.(=)" "" "0000288289" "00024167" "30" "8490" "0" "8490" "0" "c.*7761C>T" "r.(=)" "p.(=)" "" "0000325447" "00024167" "50" "35" "0" "35" "0" "c.35T>C" "r.(?)" "p.(Leu12Ser)" "" "0000325448" "00024167" "30" "710" "0" "710" "0" "c.710A>G" "r.(?)" "p.(Glu237Gly)" "" "0000325449" "00024167" "30" "8056" "0" "8056" "0" "c.*7327G>A" "r.(=)" "p.(=)" "" "0000325450" "00024167" "30" "8106" "0" "8106" "0" "c.*7377C>T" "r.(=)" "p.(=)" "" "0000325451" "00024167" "50" "8139" "0" "8139" "0" "c.*7410T>G" "r.(=)" "p.(=)" "" "0000325452" "00024167" "50" "8388" "0" "8388" "0" "c.*7659C>T" "r.(=)" "p.(=)" "" "0000561955" "00024167" "50" "70" "0" "70" "0" "c.70G>A" "r.(?)" "p.(Glu24Lys)" "" "0000561956" "00024167" "50" "461" "0" "461" "0" "c.461A>C" "r.(?)" "p.(His154Pro)" "" "0000561957" "00024167" "90" "461" "0" "461" "0" "c.461A>C" "r.(?)" "p.(His154Pro)" "" "0000561958" "00024167" "90" "461" "0" "461" "0" "c.461A>C" "r.(?)" "p.(His154Pro)" "" "0000561959" "00024167" "50" "5263" "0" "5263" "0" "c.*4534A>G" "r.(=)" "p.(=)" "" "0000561960" "00024167" "50" "5986" "0" "5986" "0" "c.*5257C>T" "r.(=)" "p.(=)" "" "0000561961" "00024167" "30" "6012" "0" "6012" "0" "c.*5283G>A" "r.(=)" "p.(=)" "" "0000561963" "00024167" "30" "8106" "0" "8106" "0" "c.*7377C>T" "r.(=)" "p.(=)" "" "0000561964" "00024167" "50" "8109" "0" "8113" "0" "c.*7380_*7384del" "r.(=)" "p.(=)" "" "0000616630" "00024167" "50" "8053" "0" "8053" "0" "c.*7324C>T" "r.(=)" "p.(=)" "" "0000623696" "00024167" "50" "6011" "0" "6011" "0" "c.*5282T>C" "r.(=)" "p.(=)" "" "0000658153" "00024167" "50" "-10" "2" "-10" "2" "c.-10+2T>C" "r.spl?" "p.?" "" "0000680902" "00024167" "30" "2826" "0" "2826" "0" "c.*2097A>C" "r.(=)" "p.(=)" "" "0000726455" "00024167" "50" "8053" "0" "8053" "0" "c.*7324C>T" "r.(=)" "p.(=)" "" "0000808044" "00024167" "50" "5977" "0" "5977" "0" "c.*5248T>C" "r.(=)" "p.(=)" "" "0000808045" "00024167" "30" "8507" "0" "8507" "0" "c.*7778C>G" "r.(=)" "p.(=)" "" "0000865317" "00024167" "50" "8107" "0" "8107" "0" "c.*7378G>A" "r.(=)" "p.(=)" "" "0000865318" "00024167" "30" "8506" "0" "8506" "0" "c.*7777A>G" "r.(=)" "p.(=)" "" "0000893966" "00024167" "90" "5987" "0" "5987" "0" "c.*5258G>A" "r.(=)" "p.(=)" "" "0000982551" "00024167" "50" "31" "0" "31" "0" "c.31G>C" "r.(?)" "p.(Ala11Pro)" "" "0000982552" "00024167" "50" "329" "0" "329" "0" "c.329G>A" "r.(?)" "p.(Arg110Gln)" "" "0000982553" "00024167" "50" "8550" "0" "8550" "0" "c.*7821G>A" "r.(=)" "p.(=)" "" "0001003325" "00024167" "50" "5977" "0" "5977" "0" "c.*5248T>C" "r.(=)" "p.(=)" "" "0001003326" "00024167" "30" "8554" "0" "8554" "0" "c.*7825G>C" "r.(=)" "p.(=)" "" "0001003327" "00024167" "50" "8557" "0" "8557" "0" "c.*7828C>T" "r.(=)" "p.(=)" "" "0001026951" "00024167" "50" "8" "0" "8" "0" "c.8G>A" "r.(?)" "p.(Arg3Lys)" "" "0001026952" "00024167" "50" "460" "0" "460" "0" "c.460C>G" "r.(?)" "p.(His154Asp)" "" "0001041917" "00024167" "30" "8060" "0" "8060" "0" "c.*7331C>T" "r.(=)" "p.(=)" "" "0001046644" "00024167" "50" "8601" "0" "8601" "0" "c.*7872G>T" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 2 "{{screeningid}}" "{{variantid}}" "0000001436" "0000019225" "0000081210" "0000130296"