### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CCDC39) # 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}}" "CCDC39" "coiled-coil domain containing 39" "3" "q26.33" "unknown" "NC_000003.11" "UD_132085424161" "" "http://www.LOVD.nl/CCDC39" "" "1" "25244" "339829" "613798" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/CCDC39_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-08-20 00:00:00" "00006" "2025-02-09 15:35:06" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000266" "CCDC39" "coiled-coil domain containing 39" "001" "NM_181426.1" "" "NP_852091.1" "" "" "" "-115" "3739" "2826" "180397283" "180331796" "00008" "2012-08-20 12:20:50" "" "" ## 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}}" "00027" "CILD14" "dyskinesia, ciliary, primary, type 14 (CILD-14)" "" "613807" "" "" "" "00008" "2012-08-20 12:24:19" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00332" "CILD" "dyskinesia, ciliary, primary (CILD)" "" "" "" "" "" "00006" "2014-02-21 12:58:05" "00006" "2015-03-31 17:58:20" "05370" "INFF" "infertility, female (INFF)" "" "" "" "" "" "00006" "2017-12-29 16:08:25" "" "" "05895" "INF" "infertility" "" "" "" "" "" "00006" "2021-02-04 08:41:37" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CCDC39" "00027" "CCDC39" "00332" ## Individuals ## Do not remove or alter this header ## ## Count = 51 "{{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}}" "00000215" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PCD31" "00000216" "" "" "" "3" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 3 affected (2 sister/brother), unaffected heterozygous carrier parents/relatives" "F;M" "" "Germany" "" "0" "" "" "" "PCD22" "00000217" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PCD113" "00000218" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PCD102" "00000219" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected parents" "F" "" "Zimbabwe" "" "0" "" "" "" "PCD186" "00000220" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PCD206" "00000221" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Afghanistan" "" "0" "" "" "Pubjabi" "PCD210" "00000222" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "2-generation family, 1 affected, unaffected parents" "F" "" "Portugal" "" "0" "" "" "" "PCD211" "00000223" "" "" "" "1" "" "00041" "{PMID:Antony 2013:23255504}" "" "" "" "United States" "" "0" "" "" "" "UNC64" "00183321" "" "" "" "1" "" "02596" "" "" "" "" "" "" "0" "" "" "Tunisian" "16GM00067" "00293282" "" "" "" "76" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293283" "" "" "" "64" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293284" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293285" "" "" "" "6" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304939" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304940" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00462318" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat3" "00462319" "" "" "" "2" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems; family, 2 affected cousins" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat4" "00462320" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "Pat5" "00462336" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462337" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462338" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462339" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462340" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462341" "" "" "" "1" "" "00006" "{PMID:Alsamri 2021:34768622}" "analysis 66 patients with significant clinical respiratory problems" "" "" "United Arab Emirates" "" "0" "" "" "" "" "00462417" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Algeria" "" "0" "" "" "" "DCP85" "00462418" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "France" "" "0" "" "" "" "DCP91" "00462419" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "France" "" "0" "" "" "Africa-N" "Fam1PatDCP413" "00462420" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "brother" "M" "yes" "France" "" "0" "" "" "Africa-N" "Fam1PatDCP414" "00462421" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Tunisia" "" "0" "" "" "" "DCP532" "00462422" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Algeria" "" "0" "" "" "" "DCP554" "00462423" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "F" "yes" "France" "" "0" "" "" "" "DCP384" "00462424" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Germany" "" "0" "" "" "" "OP122" "00462425" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 2 affected brothers, unaffected heterozygous carrier parents" "M" "no" "Turkey" "" "0" "" "" "" "Fam2PatDCP552" "00462426" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "brother" "M" "no" "Turkey" "" "0" "" "" "" "Fam2PatDCP553" "00462427" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "M" "no" "France" "" "0" "" "" "" "DCP274" "00462428" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Denmark" "" "0" "" "" "" "OP736PatII1" "00462429" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "brother" "M" "no" "Germany" "" "0" "" "" "" "OP736PatII2" "00462430" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "France" "" "0" "" "" "" "DCP158" "00462431" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Senegal" "" "0" "" "" "West Indies" "DCP580" "00462432" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Tunisia" "" "0" "" "" "" "DCP533" "00462433" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Egypt" "" "0" "" "" "" "DCP528" "00462434" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "F" "no" "France" "" "0" "" "" "" "DCP323" "00462435" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Algeria" "" "0" "" "" "" "DCP181" "00462436" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "OP18PatII1" "00462437" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Israel" "" "0" "" "" "" "OI5PatII1" "00462438" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "2-generation family, 1 affected, unaffected parents" "M" "no" "Algeria" "" "0" "" "" "" "DCP481" "00462439" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "" "" "" "" "" "0" "" "" "" "" "00462440" "" "" "" "1" "" "00006" "{PMID:Merveille 2011:21131972}" "" "" "" "" "" "0" "" "" "" "" "00464632" "" "" "" "1" "" "00764" "" "" "F" "yes" "Egypt" "" "" "" "" "" "2244_Case3" "00464633" "" "" "" "1" "" "00764" "" "Severe oligospermia" "M" "yes" "Egypt" "" "" "" "" "" "2261_Case3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 51 "{{individualid}}" "{{diseaseid}}" "00000215" "00027" "00000216" "00027" "00000217" "00027" "00000218" "00027" "00000219" "00027" "00000220" "00027" "00000221" "00027" "00000222" "00027" "00000223" "00027" "00183321" "00332" "00293282" "00198" "00293283" "00198" "00293284" "00198" "00293285" "00198" "00304939" "00198" "00304940" "00198" "00462318" "00332" "00462319" "00332" "00462320" "00332" "00462336" "00332" "00462337" "00332" "00462338" "00332" "00462339" "00332" "00462340" "00332" "00462341" "00332" "00462417" "00332" "00462418" "00332" "00462419" "00332" "00462420" "00332" "00462421" "00332" "00462422" "00332" "00462423" "00332" "00462424" "00332" "00462425" "00332" "00462426" "00332" "00462427" "00332" "00462428" "00332" "00462429" "00332" "00462430" "00332" "00462431" "00332" "00462432" "00332" "00462433" "00332" "00462434" "00332" "00462435" "00332" "00462436" "00332" "00462437" "00332" "00462438" "00332" "00462439" "00332" "00462440" "00332" "00464632" "05370" "00464633" "05895" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00027, 00198, 00332, 05370, 05895 ## Count = 36 "{{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}}" "0000144058" "00332" "00183321" "02596" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349817" "00332" "00462318" "00006" "Unknown" "" "32wg-birth prematurity, persistent atelectasis" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349818" "00332" "00462319" "00006" "Unknown" "" "primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349819" "00332" "00462320" "00006" "Unknown" "" "primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349835" "00332" "00462336" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349836" "00332" "00462337" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349837" "00332" "00462338" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349838" "00332" "00462339" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349839" "00332" "00462340" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349840" "00332" "00462341" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "clinical respiratory problems" "" "0000349916" "00332" "00462417" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349917" "00332" "00462418" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349918" "00332" "00462419" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome)" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349919" "00332" "00462420" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome)" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349920" "00332" "00462421" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome)" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349921" "00332" "00462422" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; oligoasthenospermia" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349922" "00332" "00462423" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349923" "00332" "00462424" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Ivemark syndrome); oligoasthenospermia" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349924" "00332" "00462425" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome)" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349925" "00332" "00462426" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Ivemark syndrome)" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349926" "00332" "00462427" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome)" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349927" "00332" "00462428" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349928" "00332" "00462429" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349929" "00332" "00462430" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349930" "00332" "00462431" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome); oligoasthenospermia" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349931" "00332" "00462432" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; heterotaxia; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349932" "00332" "00462433" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349933" "00332" "00462434" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349934" "00332" "00462435" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; no situs inversus; no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349935" "00332" "00462436" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349936" "00332" "00462437" "00006" "Familial, autosomal recessive" "" "primary ciliary dyskinesia; situs inversus (Kartagener syndrome); no sperm defects" "" "" "" "" "" "" "" "" "CIDL14" "primary ciliary dyskinesia" "" "0000349937" "00332" "00462438" "00006" "Unknown" "" "primary ciliary dyskinesia; no situs inversus; oligoasthenospermia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349938" "00332" "00462439" "00006" "Unknown" "" "primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000349939" "00332" "00462440" "00006" "Unknown" "" "primary ciliary dyskinesia" "" "" "" "" "" "" "" "" "" "primary ciliary dyskinesia" "" "0000350622" "05370" "00464632" "00764" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350623" "05895" "00464633" "00764" "Familial, autosomal recessive" "" "Male infertility (HP:0003251)" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 51 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000217" "00000216" "1" "00041" "00041" "2012-10-28 21:50:12" "" "" "SEQ-NG" "DNA" "" "" "0000000220" "00000219" "1" "00041" "00041" "2012-10-28 21:59:41" "" "" "SEQ-NG" "DNA" "" "" "0000000221" "00000215" "1" "00041" "00041" "2012-10-28 22:08:38" "00006" "2012-11-03 20:43:23" "SEQ" "DNA" "" "" "0000000222" "00000218" "1" "00041" "00041" "2012-10-28 22:16:13" "" "" "SEQ-NG" "DNA" "" "" "0000000223" "00000220" "1" "00041" "00041" "2012-10-28 22:24:42" "00006" "2025-02-10 17:08:55" "SEQ-NG" "DNA" "" "" "0000000224" "00000221" "1" "00041" "00041" "2012-10-28 22:26:41" "" "" "SEQ-NG" "DNA" "" "" "0000000225" "00000222" "1" "00041" "00041" "2012-10-28 22:28:46" "" "" "SEQ-NG" "DNA" "" "" "0000000226" "00000223" "1" "00041" "00041" "2012-10-28 22:30:45" "" "" "SEQ" "DNA" "" "" "0000000241" "00000217" "1" "00041" "00041" "2012-10-28 23:03:17" "" "" "SEQ" "DNA" "" "" "0000184282" "00183321" "1" "02596" "02596" "2018-10-22 23:48:41" "" "" "SEQ-NG" "DNA" "" "" "0000294450" "00293282" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294451" "00293283" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294452" "00293284" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294453" "00293285" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306068" "00304939" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000306069" "00304940" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000463950" "00462318" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463951" "00462319" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463952" "00462320" "1" "00006" "00006" "2025-02-09 17:26:35" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463968" "00462336" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463969" "00462337" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463970" "00462338" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463971" "00462339" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463972" "00462340" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000463973" "00462341" "1" "00006" "00006" "2025-02-10 10:44:37" "" "" "SEQ-NG" "DNA" "" "28-gene panel PCD" "0000464049" "00462417" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464050" "00462418" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464051" "00462419" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464052" "00462420" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464053" "00462421" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464054" "00462422" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464055" "00462423" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464056" "00462424" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464057" "00462425" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464058" "00462426" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464059" "00462427" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464060" "00462428" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464061" "00462429" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464062" "00462430" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464063" "00462431" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464064" "00462432" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464065" "00462433" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464066" "00462434" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464067" "00462435" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464068" "00462436" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464069" "00462437" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464070" "00462438" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464071" "00462439" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000464072" "00462440" "1" "00006" "00006" "2025-02-10 12:29:11" "" "" "SEQ" "DNA" "" "" "0000466278" "00464632" "1" "00764" "00764" "2025-04-04 20:59:36" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "WGS (whole genome sequencing)" "0000466279" "00464633" "1" "00764" "00764" "2025-04-04 21:45:58" "" "" "SEQ;SEQ-NG" "DNA" "Whole blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 35 "{{screeningid}}" "{{geneid}}" "0000000217" "CCDC39" "0000000220" "CCDC39" "0000000221" "CCDC39" "0000000222" "CCDC39" "0000000223" "CCDC39" "0000000224" "CCDC39" "0000000225" "CCDC39" "0000000226" "CCDC39" "0000184282" "CCDC39" "0000464049" "CCDC39" "0000464050" "CCDC39" "0000464051" "CCDC39" "0000464052" "CCDC39" "0000464053" "CCDC39" "0000464054" "CCDC39" "0000464055" "CCDC39" "0000464056" "CCDC39" "0000464057" "CCDC39" "0000464058" "CCDC39" "0000464059" "CCDC39" "0000464060" "CCDC39" "0000464061" "CCDC39" "0000464062" "CCDC39" "0000464063" "CCDC39" "0000464064" "CCDC39" "0000464065" "CCDC39" "0000464066" "CCDC39" "0000464067" "CCDC39" "0000464068" "CCDC39" "0000464069" "CCDC39" "0000464070" "CCDC39" "0000464071" "CCDC39" "0000464072" "CCDC39" "0000466278" "CCDC39" "0000466279" "CCDC39" ## 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 = 130 "{{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}}" "0000016120" "21" "90" "3" "180364907" "180364908" "ins" "0" "00041" "CCDC39_000010" "g.180364907_180364908insT" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180647119_180647120insT" "" "pathogenic (recessive)" "" "0000016121" "11" "95" "3" "180337155" "180337155" "subst" "0" "00041" "CCDC39_000011" "g.180337155T>C" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "yes" "" "0" "" "" "g.180619367T>C" "" "pathogenic (recessive)" "" "0000016123" "1" "90" "3" "180337718" "180337719" "del" "0" "00041" "CCDC39_000009" "g.180337718_180337719del" "" "{PMID:Antony 2013:23255504}" "" "2039_2040delGT" "" "Germline" "" "" "0" "" "" "g.180619930_180619931del" "" "pathogenic (recessive)" "" "0000016124" "2" "90" "3" "180377549" "180377550" "del" "0" "00041" "CCDC39_000067" "g.180377549_180377550del" "" "{PMID:Antony 2013:23255504}" "" "526_527delCT" "" "Germline" "" "" "0" "" "" "g.180659761_180659762del" "" "pathogenic (recessive)" "" "0000016125" "3" "90" "3" "180334142" "180334142" "subst" "3.66916E-5" "00041" "CCDC39_000001" "g.180334142C>A" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180616354C>A" "" "pathogenic (recessive)" "" "0000016126" "2" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00041" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0000016127" "1" "90" "3" "180381714" "180381714" "subst" "4.07624E-6" "00041" "CCDC39_000007" "g.180381714G>A" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180663926G>A" "" "pathogenic (recessive)" "" "0000016128" "1" "90" "3" "180377314" "180377314" "subst" "8.13292E-6" "00041" "CCDC39_000006" "g.180377314C>A" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180659526C>A" "" "pathogenic (recessive)" "" "0000016129" "3" "90" "3" "180337067" "180337067" "subst" "0" "00041" "CCDC39_000005" "g.180337067C>A" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180619279C>A" "" "pathogenic (recessive)" "" "0000016130" "1" "90" "3" "180364948" "180364948" "del" "0" "00041" "CCDC39_000003" "g.180364948del" "" "{PMID:Antony 2013:23255504}" "" "1450delA" "" "Germline" "" "" "0" "" "" "g.180647160del" "" "pathogenic (recessive)" "" "0000016131" "3" "90" "3" "180372652" "180372653" "del" "0" "00041" "CCDC39_000004" "g.180372652_180372653del" "" "{PMID:Antony 2013:23255504}" "" "830_831delCA" "" "Germline" "" "" "0" "" "" "g.180654864_180654865del" "" "pathogenic (recessive)" "" "0000254459" "0" "30" "3" "180372580" "180372580" "subst" "0.000543635" "01943" "CCDC39_000024" "g.180372580A>T" "" "" "" "CCDC39(NM_181426.1):c.900T>A (p.(His300Gln)), CCDC39(NM_181426.2):c.900T>A (p.H300Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180654792A>T" "" "likely benign" "" "0000255018" "0" "30" "3" "180381703" "180381703" "subst" "0.000118139" "01943" "CCDC39_000030" "g.180381703A>G" "" "" "" "CCDC39(NM_181426.2):c.162T>C (p.S54=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180663915A>G" "" "likely benign" "" "0000256281" "0" "50" "3" "180397167" "180397167" "subst" "4.06164E-5" "01943" "CCDC39_000031" "g.180397167A>G" "" "" "" "CCDC39(NM_181426.2):c.2T>C (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180679379A>G" "" "VUS" "" "0000266523" "0" "10" "3" "180334623" "180334623" "subst" "0.176191" "02325" "CCDC39_000014" "g.180334623C>T" "" "" "" "CCDC39(NM_181426.2):c.2397G>A (p.V799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616835C>T" "" "benign" "" "0000272758" "0" "30" "3" "180369283" "180369283" "subst" "0.00373008" "01943" "CCDC39_000023" "g.180369283G>A" "" "" "" "CCDC39(NM_181426.1):c.1073C>T (p.(Thr358Ile)), CCDC39(NM_181426.2):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180651495G>A" "" "likely benign" "" "0000272759" "0" "50" "3" "180366086" "180366086" "subst" "8.58973E-5" "01943" "CCDC39_000022" "g.180366086T>C" "" "" "" "CCDC39(NM_181426.2):c.1229A>G (p.Q410R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180648298T>C" "" "VUS" "" "0000272760" "0" "10" "3" "180366067" "180366067" "subst" "0.0628295" "01943" "CCDC39_000021" "g.180366067T>C" "" "" "" "CCDC39(NM_181426.2):c.1248A>G (p.E416=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180648279T>C" "" "benign" "" "0000272762" "0" "10" "3" "180365034" "180365034" "del" "0" "01943" "CCDC39_000019" "g.180365034del" "" "" "" "CCDC39(NM_181426.1):c.1363-3delC (p.?), CCDC39(NM_181426.2):c.1363-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180647246del" "" "benign" "" "0000272763" "0" "50" "3" "180359923" "180359923" "subst" "1.63088E-5" "01943" "CCDC39_000018" "g.180359923T>C" "" "" "" "CCDC39(NM_181426.2):c.1732A>G (p.K578E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180642135T>C" "" "VUS" "" "0000272764" "0" "30" "3" "180359874" "180359874" "subst" "0.000662715" "01943" "CCDC39_000017" "g.180359874G>A" "" "" "" "CCDC39(NM_181426.1):c.1781C>T (p.(Thr594Ile)), CCDC39(NM_181426.2):c.1781C>T (p.T594I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180642086G>A" "" "likely benign" "" "0000272765" "0" "50" "3" "180349295" "180349295" "subst" "4.53904E-5" "01943" "CCDC39_000016" "g.180349295C>T" "" "" "" "CCDC39(NM_181426.1):c.1960G>A (p.(Gly654Arg)), CCDC39(NM_181426.2):c.1960G>A (p.G654R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180631507C>T" "" "VUS" "" "0000272766" "0" "10" "3" "180334719" "180334719" "subst" "0.0555957" "01943" "CCDC39_000015" "g.180334719C>T" "" "" "" "CCDC39(NM_181426.2):c.2301G>A (p.L767=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616931C>T" "" "benign" "" "0000272767" "0" "10" "3" "180334623" "180334623" "subst" "0.176191" "01943" "CCDC39_000014" "g.180334623C>T" "" "" "" "CCDC39(NM_181426.2):c.2397G>A (p.V799=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616835C>T" "" "benign" "" "0000272768" "0" "50" "3" "180334458" "180334458" "subst" "0.00806024" "01943" "CCDC39_000013" "g.180334458C>T" "" "" "" "CCDC39(NM_181426.1):c.2432G>A (p.(Arg811His)), CCDC39(NM_181426.2):c.2432G>A (p.R811H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616670C>T" "" "VUS" "" "0000272769" "0" "10" "3" "180334063" "180334063" "subst" "0.00144161" "01943" "CCDC39_000012" "g.180334063G>A" "" "" "" "CCDC39(NM_181426.2):c.2669+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180616275G>A" "" "benign" "" "0000272770" "0" "10" "3" "180378402" "180378402" "subst" "0.00960268" "01943" "CCDC39_000029" "g.180378402G>C" "" "" "" "CCDC39(NM_181426.2):c.472C>G (p.L158V, p.(Leu158Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180660614G>C" "" "benign" "" "0000272771" "0" "10" "3" "180377529" "180377529" "subst" "0.0242029" "01943" "CCDC39_000028" "g.180377529G>C" "" "" "" "CCDC39(NM_181426.2):c.545C>G (p.T182S, p.(Thr182Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180659741G>C" "" "benign" "" "0000272772" "0" "30" "3" "180377383" "180377383" "subst" "9.51656E-5" "01943" "CCDC39_000027" "g.180377383G>A" "" "" "" "CCDC39(NM_181426.2):c.610-15C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180659595G>A" "" "likely benign" "" "0000272773" "0" "90" "3" "180377370" "180377370" "subst" "0.000106904" "01943" "CCDC39_000026" "g.180377370T>C" "" "" "" "CCDC39(NM_181426.2):c.610-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180659582T>C" "" "pathogenic" "" "0000272774" "0" "50" "3" "180372740" "180372740" "subst" "0" "01943" "CCDC39_000025" "g.180372740T>C" "" "" "" "CCDC39(NM_181426.2):c.740A>G (p.E247G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180654952T>C" "" "VUS" "" "0000318008" "0" "30" "3" "180322360" "180322360" "subst" "0.000147811" "01943" "TTC14_000001" "g.180322360T>C" "" "" "" "TTC14(NM_001042601.2):c.666T>C (p.G222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180604572T>C" "" "likely benign" "" "0000329710" "0" "50" "3" "180328194" "180328194" "subst" "0.000659819" "01804" "TTC14_000002" "g.180328194T>C" "" "" "" "TTC14(NM_001042601.2):c.*2611T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180610406T>C" "" "VUS" "" "0000329711" "0" "50" "3" "180365034" "180365034" "del" "0" "01804" "CCDC39_000019" "g.180365034del" "" "" "" "CCDC39(NM_181426.1):c.1363-3delC (p.?), CCDC39(NM_181426.2):c.1363-3delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180647246del" "" "VUS" "" "0000337380" "0" "90" "3" "180337760" "180337760" "subst" "2.21586E-5" "02327" "CCDC39_000032" "g.180337760T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.180619972T>A" "" "pathogenic" "" "0000408299" "3" "70" "3" "180334332" "180334334" "del" "0" "02596" "CCDC39_000033" "g.180334332_180334334delinsA" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.180616544_180616546delinsA" "" "likely pathogenic" "" "0000518549" "0" "30" "3" "180328327" "180328327" "subst" "0" "01804" "CCDC39_000036" "g.180328327T>A" "" "" "" "TTC14(NM_001042601.2):c.*2744T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180610539T>A" "" "likely benign" "" "0000518550" "0" "30" "3" "180334078" "180334078" "dup" "0" "01804" "CCDC39_000037" "g.180334078dup" "" "" "" "CCDC39(NM_181426.2):c.2660dup (p.(Ser888IlefsTer6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616290dup" "" "likely benign" "" "0000518551" "0" "30" "3" "180334458" "180334458" "subst" "0.00806024" "01804" "CCDC39_000013" "g.180334458C>T" "" "" "" "CCDC39(NM_181426.1):c.2432G>A (p.(Arg811His)), CCDC39(NM_181426.2):c.2432G>A (p.R811H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616670C>T" "" "likely benign" "" "0000518552" "0" "30" "3" "180334482" "180334482" "subst" "0.00131273" "01804" "CCDC39_000038" "g.180334482C>T" "" "" "" "CCDC39(NM_181426.1):c.2408G>A (p.(Cys803Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616694C>T" "" "likely benign" "" "0000518553" "0" "90" "3" "180334673" "180334677" "del" "0" "02329" "CCDC39_000039" "g.180334673_180334677del" "" "" "" "CCDC39(NM_181426.2):c.2347_2351delTTTCA (p.F783Tfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180616885_180616889del" "" "pathogenic" "" "0000518555" "0" "30" "3" "180337129" "180337129" "subst" "1.97944E-5" "01804" "CCDC39_000041" "g.180337129T>C" "" "" "" "CCDC39(NM_181426.1):c.2183A>G (p.(Gln728Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180619341T>C" "" "likely benign" "" "0000518557" "0" "30" "3" "180359874" "180359874" "subst" "0.000662715" "01804" "CCDC39_000017" "g.180359874G>A" "" "" "" "CCDC39(NM_181426.1):c.1781C>T (p.(Thr594Ile)), CCDC39(NM_181426.2):c.1781C>T (p.T594I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180642086G>A" "" "likely benign" "" "0000518558" "0" "90" "3" "180359941" "180359941" "subst" "0" "02329" "CCDC39_000043" "g.180359941G>A" "" "" "" "CCDC39(NM_181426.2):c.1714C>T (p.R572*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180642153G>A" "" "pathogenic" "" "0000518559" "0" "10" "3" "180365054" "180365054" "dup" "0" "01943" "CCDC39_000044" "g.180365054dup" "" "" "" "CCDC39(NM_181426.2):c.1363-13dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180647266dup" "" "benign" "" "0000518560" "0" "10" "3" "180365956" "180365956" "subst" "0.236153" "01943" "CCDC39_000045" "g.180365956G>A" "" "" "" "CCDC39(NM_181426.2):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180648168G>A" "" "benign" "" "0000518561" "0" "10" "3" "180365956" "180365956" "subst" "0.236153" "02325" "CCDC39_000045" "g.180365956G>A" "" "" "" "CCDC39(NM_181426.2):c.1359C>T (p.S453=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180648168G>A" "" "benign" "" "0000518562" "0" "30" "3" "180369283" "180369283" "subst" "0.00373008" "01804" "CCDC39_000023" "g.180369283G>A" "" "" "" "CCDC39(NM_181426.1):c.1073C>T (p.(Thr358Ile)), CCDC39(NM_181426.2):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180651495G>A" "" "likely benign" "" "0000518563" "0" "30" "3" "180369283" "180369283" "subst" "0.00373008" "02325" "CCDC39_000023" "g.180369283G>A" "" "" "" "CCDC39(NM_181426.1):c.1073C>T (p.(Thr358Ile)), CCDC39(NM_181426.2):c.1073C>T (p.T358I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180651495G>A" "" "likely benign" "" "0000518564" "0" "90" "3" "180372681" "180372681" "subst" "0" "02325" "CCDC39_000046" "g.180372681T>A" "" "" "" "CCDC39(NM_181426.2):c.799A>T (p.K267*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180654893T>A" "" "pathogenic" "" "0000518565" "0" "30" "3" "180377471" "180377471" "subst" "0.000235824" "01943" "CCDC39_000047" "g.180377471G>A" "" "" "" "CCDC39(NM_181426.2):c.603C>T (p.S201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180659683G>A" "" "likely benign" "" "0000518566" "0" "10" "3" "180377529" "180377529" "subst" "0.0242029" "01804" "CCDC39_000028" "g.180377529G>C" "" "" "" "CCDC39(NM_181426.2):c.545C>G (p.T182S, p.(Thr182Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180659741G>C" "" "benign" "" "0000518567" "0" "30" "3" "180379734" "180379734" "subst" "0.000373337" "01804" "CCDC39_000048" "g.180379734T>C" "" "" "" "CCDC39(NM_181426.1):c.272A>G (p.(Gln91Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180661946T>C" "" "likely benign" "" "0000518568" "0" "30" "3" "180379773" "180379773" "subst" "0.00727028" "01804" "CCDC39_000049" "g.180379773C>T" "" "" "" "CCDC39(NM_181426.1):c.233G>A (p.(Arg78His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180661985C>T" "" "likely benign" "" "0000608425" "0" "50" "3" "180349295" "180349295" "subst" "4.53904E-5" "01804" "CCDC39_000016" "g.180349295C>T" "" "" "" "CCDC39(NM_181426.1):c.1960G>A (p.(Gly654Arg)), CCDC39(NM_181426.2):c.1960G>A (p.G654R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180631507C>T" "" "VUS" "" "0000621216" "0" "50" "3" "180372600" "180372600" "subst" "0.000606776" "01943" "CCDC39_000050" "g.180372600T>C" "" "" "" "CCDC39(NM_181426.2):c.880A>G (p.R294G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180654812T>C" "" "VUS" "" "0000651139" "1" "50" "3" "180332134" "180332134" "subst" "0" "03575" "CCDC39_000051" "g.180332134A>G" "76/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "76 heterozygous; {DB:CLININrs79349285}" "Germline" "" "rs79349285" "0" "" "" "g.180614346A>G" "" "VUS" "" "0000651140" "1" "30" "3" "180334458" "180334458" "subst" "0.00806024" "03575" "CCDC39_000013" "g.180334458C>T" "64/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "64 heterozygous; {DB:CLININrs61733583}" "Germline" "" "rs61733583" "0" "" "" "g.180616670C>T" "" "likely benign" "" "0000651141" "1" "30" "3" "180364961" "180364961" "subst" "0.00284857" "03575" "CCDC39_000052" "g.180364961T>C" "8/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs115545935}" "Germline" "" "rs115545935" "0" "" "" "g.180647173T>C" "" "likely benign" "" "0000651142" "1" "50" "3" "180366117" "180366117" "subst" "0.000976511" "03575" "CCDC39_000053" "g.180366117C>A" "6/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs147383873}" "Germline" "" "rs147383873" "0" "" "" "g.180648329C>A" "" "VUS" "" "0000654850" "0" "30" "3" "180364961" "180364961" "subst" "0.00284857" "01804" "CCDC39_000052" "g.180364961T>C" "" "" "" "CCDC39(NM_181426.1):c.1433A>G (p.(Gln478Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.180647173T>C" "" "likely benign" "" "0000669756" "3" "50" "3" "180332134" "180332134" "subst" "0" "03575" "CCDC39_000051" "g.180332134A>G" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 homozygous; {DB:CLININrs79349285}" "Germline" "" "rs79349285" "0" "" "" "g.180614346A>G" "" "VUS" "" "0000669757" "3" "30" "3" "180334458" "180334458" "subst" "0.00806024" "03575" "CCDC39_000013" "g.180334458C>T" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs61733583}" "Germline" "" "rs61733583" "0" "" "" "g.180616670C>T" "" "likely benign" "" "0000676886" "0" "50" "3" "180327792" "180327792" "subst" "0" "01943" "CCDC39_000054" "g.180327792G>A" "" "" "" "TTC14(NM_133462.4):c.1775G>A (p.G592D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676887" "0" "50" "3" "180379698" "180379698" "subst" "0" "02325" "CCDC39_000055" "g.180379698C>T" "" "" "" "CCDC39(NM_181426.2):c.308G>A (p.R103Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719283" "0" "90" "3" "180379648" "180379648" "subst" "0.000152706" "02329" "CCDC39_000002" "g.180379648C>G" "" "" "" "CCDC39(NM_181426.2):c.357+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000850185" "0" "90" "3" "180337598" "180337598" "subst" "0" "02329" "CCDC39_000056" "g.180337598C>T" "" "" "" "CCDC39(NM_181426.2):c.2158+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975667" "0" "30" "3" "180337082" "180337082" "subst" "0.00359164" "01804" "CCDC39_000057" "g.180337082G>C" "" "" "" "CCDC39(NM_181426.2):c.2230C>G (p.(Gln744Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975668" "0" "30" "3" "180377470" "180377470" "subst" "0.00257435" "01804" "CCDC39_000058" "g.180377470C>T" "" "" "" "CCDC39(NM_181426.2):c.604G>A (p.(Ala202Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975669" "0" "50" "3" "180397086" "180397086" "subst" "0.000235575" "01804" "CCDC39_000059" "g.180397086T>G" "" "" "" "CCDC39(NM_181426.2):c.83A>C (p.(Glu28Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993447" "0" "90" "3" "180334142" "180334142" "subst" "3.66916E-5" "02329" "CCDC39_000001" "g.180334142C>A" "" "" "" "CCDC39(NM_181426.2):c.2596G>T (p.E866*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000993448" "0" "30" "3" "180334342" "180334342" "subst" "0.000121363" "01804" "CCDC39_000060" "g.180334342T>C" "" "" "" "CCDC39(NM_181426.1):c.2548A>G (p.(Thr850Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993449" "0" "30" "3" "180337700" "180337700" "subst" "0.000272104" "01804" "CCDC39_000061" "g.180337700T>C" "" "" "" "CCDC39(NM_181426.1):c.2057A>G (p.(Asn686Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993450" "0" "30" "3" "180364935" "180364935" "subst" "0.00196781" "01804" "CCDC39_000062" "g.180364935G>C" "" "" "" "CCDC39(NM_181426.1):c.1459C>G (p.(Leu487Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993451" "0" "30" "3" "180372580" "180372580" "subst" "0.000543635" "01804" "CCDC39_000024" "g.180372580A>T" "" "" "" "CCDC39(NM_181426.1):c.900T>A (p.(His300Gln)), CCDC39(NM_181426.2):c.900T>A (p.H300Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993452" "0" "50" "3" "180378495" "180378495" "subst" "0" "01804" "CCDC39_000063" "g.180378495G>C" "" "" "" "CCDC39(NM_181426.1):c.379C>G (p.(Gln127Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993453" "0" "50" "3" "180397101" "180397101" "subst" "0.000328969" "02325" "CCDC39_000064" "g.180397101T>G" "" "" "" "CCDC39(NM_181426.2):c.68A>C (p.E23A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027579" "1" "50" "3" "180369283" "180369283" "subst" "0.00373008" "00006" "CCDC39_000023" "g.180369283G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "parental studies revealed variants in cis" "Germline" "" "" "0" "" "" "g.180651495G>A" "" "VUS" "" "0001027580" "3" "90" "3" "180367928" "180367928" "subst" "0" "00006" "CCDC39_000065" "g.180367928T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.180650140T>C" "" "pathogenic (recessive)" "" "0001027581" "1" "50" "3" "180365034" "180365034" "del" "0" "00006" "CCDC39_000019" "g.180365034del" "" "{PMID:Alsamri 2021:34768622}" "" "1363-3delC" "" "Germline" "" "" "0" "" "" "g.180647246del" "" "VUS" "" "0001027595" "1" "50" "3" "180369280" "180369280" "subst" "0" "00006" "CCDC39_000066" "g.180369280T>G" "" "{PMID:Alsamri 2021:34768622}" "" "" "parental studies revealed variants in cis" "Germline" "" "" "0" "" "" "g.180651492T>G" "" "VUS" "" "0001027596" "2" "30" "3" "180359874" "180359874" "subst" "0.000662715" "00006" "CCDC39_000017" "g.180359874G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.180642086G>A" "" "likely benign" "" "0001027612" "0" "30" "3" "180364977" "180364977" "subst" "8.20493E-6" "00006" "CCDC39_000076" "g.180364977T>C" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs1241950069" "0" "" "" "g.180647189T>C" "" "likely benign" "" "0001027613" "0" "30" "3" "180362056" "180362057" "del" "0" "00006" "CCDC39_000075" "g.180362056_180362057del" "" "{PMID:Alsamri 2021:34768622}" "" "1528-11_1528-10delCT" "" "Germline" "" "rs765966793" "0" "" "" "g.180644268_180644269del" "" "likely benign" "" "0001027614" "0" "70" "3" "180359863" "180359863" "subst" "0" "00006" "CCDC39_000074" "g.180359863C>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "" "0" "" "" "g.180642075C>A" "" "VUS" "" "0001027615" "0" "30" "3" "180349370" "180349370" "subst" "0.000109095" "00006" "CCDC39_000073" "g.180349370G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs199526690" "0" "" "" "g.180631582G>A" "" "likely benign" "" "0001027616" "0" "30" "3" "180334333" "180334333" "subst" "0.000353135" "00006" "CCDC39_000069" "g.180334333G>A" "" "{PMID:Alsamri 2021:34768622}" "" "" "" "Germline" "" "rs201097154" "0" "" "" "g.180616545G>A" "" "likely benign" "" "0001027617" "0" "70" "3" "180334078" "180334078" "dup" "0" "00006" "CCDC39_000037" "g.180334078dup" "" "{PMID:Alsamri 2021:34768622}" "" "2660dupT" "" "Germline" "" "rs200353947" "0" "" "" "g.180616290dup" "" "benign" "" "0001027694" "3" "90" "3" "180337123" "180337123" "del" "0" "00006" "CCDC39_000072" "g.180337123del" "" "{PMID:Merveille 2011:21131972}" "" "2190delA" "" "Germline" "" "" "0" "" "" "g.180619335del" "" "pathogenic (recessive)" "" "0001027695" "3" "90" "3" "180337123" "180337123" "del" "0" "00006" "CCDC39_000072" "g.180337123del" "" "{PMID:Merveille 2011:21131972}" "" "2190delA" "" "Germline" "" "" "0" "" "" "g.180619335del" "" "pathogenic (recessive)" "" "0001027696" "3" "90" "3" "180337123" "180337123" "del" "0" "00006" "CCDC39_000072" "g.180337123del" "" "{PMID:Merveille 2011:21131972}" "" "2190delA" "" "Germline" "" "" "0" "" "" "g.180619335del" "" "pathogenic (recessive)" "" "0001027697" "3" "90" "3" "180337123" "180337123" "del" "0" "00006" "CCDC39_000072" "g.180337123del" "" "{PMID:Merveille 2011:21131972}" "" "2190delA" "" "Germline" "" "" "0" "" "" "g.180619335del" "" "pathogenic (recessive)" "" "0001027698" "3" "90" "3" "180337123" "180337123" "del" "0" "00006" "CCDC39_000072" "g.180337123del" "" "{PMID:Merveille 2011:21131972}" "" "2190delA" "" "Germline" "" "" "0" "" "" "g.180619335del" "" "pathogenic (recessive)" "" "0001027699" "3" "90" "3" "180369286" "180369286" "del" "0" "00006" "CCDC39_000079" "g.180369286del" "" "{PMID:Merveille 2011:21131972}" "" "1072delA" "" "Germline" "" "" "0" "" "" "g.180651498del" "" "pathogenic (recessive)" "" "0001027700" "3" "90" "3" "180369286" "180369286" "del" "0" "00006" "CCDC39_000079" "g.180369286del" "" "{PMID:Merveille 2011:21131972}" "" "1072delA" "" "Germline" "" "" "0" "" "" "g.180651498del" "" "pathogenic (recessive)" "" "0001027701" "1" "90" "3" "180369286" "180369286" "del" "0" "00006" "CCDC39_000079" "g.180369286del" "" "{PMID:Merveille 2011:21131972}" "" "1072delA" "" "Germline" "" "" "0" "" "" "g.180651498del" "" "pathogenic (recessive)" "" "0001027702" "3" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00006" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001027703" "3" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00006" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001027704" "1" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00006" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001027705" "1" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00006" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001027706" "1" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00006" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001027707" "11" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00006" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001027708" "1" "90" "3" "180334661" "180334663" "delins" "0" "00006" "CCDC39_000071" "g.180334661_180334663delinsA" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180616873_180616875delinsA" "" "pathogenic (recessive)" "" "0001027709" "3" "90" "3" "180334313" "180334313" "subst" "0" "00006" "CCDC39_000068" "g.180334313G>T" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180616525G>T" "" "pathogenic (recessive)" "" "0001027710" "3" "90" "3" "180334313" "180334313" "subst" "0" "00006" "CCDC39_000068" "g.180334313G>T" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180616525G>T" "" "pathogenic (recessive)" "" "0001027711" "3" "90" "3" "180369324" "180369324" "subst" "0" "00006" "CCDC39_000080" "g.180369324G>C" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180651536G>C" "" "pathogenic (recessive)" "" "0001027712" "3" "90" "3" "180359941" "180359941" "subst" "0" "00006" "CCDC39_000043" "g.180359941G>A" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180642153G>A" "" "pathogenic (recessive)" "" "0001027713" "3" "90" "3" "180378390" "180378390" "dup" "0" "00006" "CCDC39_000083" "g.180378390dup" "" "{PMID:Merveille 2011:21131972}" "" "485_486insA" "" "Germline" "" "" "0" "" "" "g.180660602dup" "" "pathogenic (recessive)" "" "0001027714" "3" "90" "3" "180364983" "180364983" "subst" "0" "00006" "CCDC39_000077" "g.180364983C>A" "" "{PMID:Merveille 2011:21131972}" "" "1410G>T" "" "Germline" "" "" "0" "" "" "g.180647195C>A" "" "pathogenic (recessive)" "" "0001027715" "1" "90" "3" "180365034" "180365034" "del" "0" "00006" "CCDC39_000019" "g.180365034del" "" "{PMID:Merveille 2011:21131972}" "" "1363-3delC" "" "Germline" "" "" "0" "" "" "g.180647246del" "" "pathogenic (recessive)" "" "0001027716" "0" "50" "3" "180334482" "180334482" "subst" "0.00131273" "00006" "CCDC39_000038" "g.180334482C>T" "" "{PMID:Merveille 2011:21131972}" "" "Cys803Tyr" "" "Germline" "" "" "0" "" "" "g.180616694C>T" "" "VUS" "" "0001027717" "0" "50" "3" "180377529" "180377529" "^" "0" "00006" "CCDC39_000082" "g.(180377529G>C^180377530T>A)" "" "{PMID:Merveille 2011:21131972}" "" "Thr182Ser" "" "Germline" "" "" "0" "" "" "g.(180659741G>C^180659742T>A)" "" "VUS" "" "0001027718" "2" "90" "3" "180369977" "180369980" "del" "0" "00006" "CCDC39_000081" "g.180369977_180369980del" "" "{PMID:Merveille 2011:21131972}" "" "1007_1010delAGAA" "" "Germline" "" "" "0" "" "" "g.180652189_180652192del" "" "pathogenic (recessive)" "" "0001027719" "2" "90" "3" "180377370" "180377370" "subst" "0.000106904" "00006" "CCDC39_000026" "g.180377370T>C" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180659582T>C" "" "pathogenic (recessive)" "" "0001027720" "2" "90" "3" "180334339" "180334339" "subst" "0" "00006" "CCDC39_000070" "g.180334339C>A" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180616551C>A" "" "pathogenic (recessive)" "" "0001027721" "2" "90" "3" "180334339" "180334339" "subst" "0" "00006" "CCDC39_000070" "g.180334339C>A" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180616551C>A" "" "pathogenic (recessive)" "" "0001027722" "21" "90" "3" "180334661" "180334663" "delins" "0" "00006" "CCDC39_000071" "g.180334661_180334663delinsA" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180616873_180616875delinsA" "" "pathogenic (recessive)" "" "0001027723" "2" "90" "3" "180367928" "180367928" "subst" "0" "00006" "CCDC39_000065" "g.180367928T>C" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180650140T>C" "" "pathogenic (recessive)" "" "0001027724" "2" "70" "3" "180366179" "180366179" "subst" "0.00548704" "00006" "CCDC39_000078" "g.180366179T>C" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180648391T>C" "" "VUS" "" "0001027725" "0" "70" "3" "180359874" "180359874" "subst" "0.000662715" "00006" "CCDC39_000017" "g.180359874G>A" "" "{PMID:Merveille 2011:21131972}" "" "" "" "Germline" "" "" "0" "" "" "g.180642086G>A" "" "VUS" "" "0001027748" "3" "90" "3" "180359860" "180359860" "subst" "7.33263E-5" "00041" "CCDC39_000008" "g.180359860G>A" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180642072G>A" "" "pathogenic (recessive)" "" "0001027749" "2" "90" "3" "180377549" "180377550" "del" "0" "00041" "CCDC39_000067" "g.180377549_180377550del" "" "{PMID:Antony 2013:23255504}" "" "526_527delCT" "" "Germline" "" "" "0" "" "" "g.180659761_180659762del" "" "pathogenic (recessive)" "" "0001027750" "2" "90" "3" "180379648" "180379648" "subst" "0.000152706" "00041" "CCDC39_000002" "g.180379648C>G" "" "{PMID:Antony 2013:23255504}" "" "" "" "Germline" "" "" "0" "" "" "g.180661860C>G" "" "pathogenic (recessive)" "" "0001030201" "3" "70" "3" "180361935" "180361935" "subst" "0" "00764" "CCDC39_000084" "g.180361935T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.180644147T>G" "" "VUS" "ACMG" "0001030202" "3" "70" "3" "180361935" "180361935" "subst" "0" "00764" "CCDC39_000084" "g.180361935T>G" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.180644147T>G" "" "VUS" "ACMG" "0001033810" "0" "30" "3" "180334721" "180334721" "subst" "0.00227602" "01804" "CCDC39_000085" "g.180334721A>G" "" "" "" "CCDC39(NM_181426.2):c.2299T>C (p.(Leu767=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033811" "0" "50" "3" "180349367" "180349367" "subst" "1.67518E-5" "01804" "CCDC39_000086" "g.180349367C>T" "" "" "" "CCDC39(NM_181426.2):c.1888G>A (p.(Glu630Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033812" "0" "30" "3" "180369321" "180369321" "subst" "0" "01804" "CCDC39_000087" "g.180369321C>T" "" "" "" "CCDC39(NM_181426.2):c.1035G>A (p.(Arg345=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033813" "0" "30" "3" "180378402" "180378402" "subst" "0.00960268" "01804" "CCDC39_000029" "g.180378402G>C" "" "" "" "CCDC39(NM_181426.2):c.472C>G (p.L158V, p.(Leu158Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033814" "0" "90" "3" "180379648" "180379648" "subst" "0.000152706" "01804" "CCDC39_000002" "g.180379648C>G" "" "" "" "CCDC39(NM_181426.2):c.357+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## 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 CCDC39 ## Count = 130 "{{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}}" "0000016120" "00000266" "90" "1486" "0" "1487" "0" "c.1486_1487insA" "r.(?)" "p.(Ser496Tyrfs*15)" "11" "0000016121" "00000266" "95" "2159" "-2" "2159" "-2" "c.2159-2A>G" "r.spl" "p.?" "15i" "0000016123" "00000266" "90" "2039" "0" "2040" "0" "c.2039_2040del" "r.(?)" "p.(Cys680Phefs*9)" "15" "0000016124" "00000266" "90" "526" "0" "527" "0" "c.526_527del" "r.(?)" "p.(Leu176Alafs*10)" "5" "0000016125" "00000266" "90" "2596" "0" "2596" "0" "c.2596G>T" "r.(?)" "p.(Glu866*)" "19" "0000016126" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0000016127" "00000266" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Arg51*)" "2" "0000016128" "00000266" "90" "664" "0" "664" "0" "c.664G>T" "r.(?)" "p.(Glu222Ter)" "6" "0000016129" "00000266" "90" "2245" "0" "2245" "0" "c.2245G>T" "r.(?)" "p.(Glu749*)" "16" "0000016130" "00000266" "90" "1450" "0" "1450" "0" "c.1450del" "r.(?)" "p.(Ile484LeufsTer47)" "11" "0000016131" "00000266" "90" "830" "0" "831" "0" "c.830_831del" "r.(?)" "p.(Thr277Argfs3*)" "7" "0000254459" "00000266" "30" "900" "0" "900" "0" "c.900T>A" "r.(?)" "p.(His300Gln)" "" "0000255018" "00000266" "30" "162" "0" "162" "0" "c.162T>C" "r.(?)" "p.(Ser54=)" "" "0000256281" "00000266" "50" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "" "0000266523" "00000266" "10" "2397" "0" "2397" "0" "c.2397G>A" "r.(?)" "p.(Val799=)" "" "0000272758" "00000266" "30" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" "0000272759" "00000266" "50" "1229" "0" "1229" "0" "c.1229A>G" "r.(?)" "p.(Gln410Arg)" "" "0000272760" "00000266" "10" "1248" "0" "1248" "0" "c.1248A>G" "r.(?)" "p.(Glu416=)" "" "0000272762" "00000266" "10" "1363" "-3" "1363" "-3" "c.1363-3del" "r.spl?" "p.?" "" "0000272763" "00000266" "50" "1732" "0" "1732" "0" "c.1732A>G" "r.(?)" "p.(Lys578Glu)" "" "0000272764" "00000266" "30" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Ile)" "" "0000272765" "00000266" "50" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Gly654Arg)" "" "0000272766" "00000266" "10" "2301" "0" "2301" "0" "c.2301G>A" "r.(?)" "p.(Leu767=)" "" "0000272767" "00000266" "10" "2397" "0" "2397" "0" "c.2397G>A" "r.(?)" "p.(Val799=)" "" "0000272768" "00000266" "50" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Arg811His)" "" "0000272769" "00000266" "10" "2669" "6" "2669" "6" "c.2669+6C>T" "r.(=)" "p.(=)" "" "0000272770" "00000266" "10" "472" "0" "472" "0" "c.472C>G" "r.(?)" "p.(Leu158Val)" "" "0000272771" "00000266" "10" "545" "0" "545" "0" "c.545C>G" "r.(?)" "p.(Thr182Ser)" "" "0000272772" "00000266" "30" "610" "-15" "610" "-15" "c.610-15C>T" "r.(=)" "p.(=)" "" "0000272773" "00000266" "90" "610" "-2" "610" "-2" "c.610-2A>G" "r.spl?" "p.?" "" "0000272774" "00000266" "50" "740" "0" "740" "0" "c.740A>G" "r.(?)" "p.(Glu247Gly)" "" "0000318008" "00000266" "30" "13175" "0" "13175" "0" "c.*10349A>G" "r.(=)" "p.(=)" "" "0000329710" "00000266" "50" "7341" "0" "7341" "0" "c.*4515A>G" "r.(=)" "p.(=)" "" "0000329711" "00000266" "50" "1363" "-3" "1363" "-3" "c.1363-3del" "r.spl?" "p.?" "" "0000337380" "00000266" "90" "1999" "-2" "1999" "-2" "c.1999-2A>T" "r.spl?" "p.?" "" "0000408299" "00000266" "70" "2556" "0" "2558" "0" "c.2556_2558delinsT" "r.(?)" "p.(Arg853Tyrfs*18)" "18" "0000518549" "00000266" "30" "7208" "0" "7208" "0" "c.*4382A>T" "r.(=)" "p.(=)" "" "0000518550" "00000266" "30" "2660" "0" "2660" "0" "c.2660dup" "r.(?)" "p.(Ser888IlefsTer6)" "" "0000518551" "00000266" "30" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Arg811His)" "" "0000518552" "00000266" "30" "2408" "0" "2408" "0" "c.2408G>A" "r.(?)" "p.(Cys803Tyr)" "" "0000518553" "00000266" "90" "2347" "0" "2351" "0" "c.2347_2351del" "r.(?)" "p.(Phe783ThrfsTer3)" "" "0000518555" "00000266" "30" "2183" "0" "2183" "0" "c.2183A>G" "r.(?)" "p.(Gln728Arg)" "" "0000518557" "00000266" "30" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Ile)" "" "0000518558" "00000266" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Ter)" "" "0000518559" "00000266" "10" "1363" "-13" "1363" "-13" "c.1363-13dup" "r.(=)" "p.(=)" "" "0000518560" "00000266" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000518561" "00000266" "10" "1359" "0" "1359" "0" "c.1359C>T" "r.(?)" "p.(Ser453=)" "" "0000518562" "00000266" "30" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" "0000518563" "00000266" "30" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" "0000518564" "00000266" "90" "799" "0" "799" "0" "c.799A>T" "r.(?)" "p.(Lys267Ter)" "" "0000518565" "00000266" "30" "603" "0" "603" "0" "c.603C>T" "r.(?)" "p.(Ser201=)" "" "0000518566" "00000266" "10" "545" "0" "545" "0" "c.545C>G" "r.(?)" "p.(Thr182Ser)" "" "0000518567" "00000266" "30" "272" "0" "272" "0" "c.272A>G" "r.(?)" "p.(Gln91Arg)" "" "0000518568" "00000266" "30" "233" "0" "233" "0" "c.233G>A" "r.(?)" "p.(Arg78His)" "" "0000608425" "00000266" "50" "1960" "0" "1960" "0" "c.1960G>A" "r.(?)" "p.(Gly654Arg)" "" "0000621216" "00000266" "50" "880" "0" "880" "0" "c.880A>G" "r.(?)" "p.(Arg294Gly)" "" "0000651139" "00000266" "50" "3401" "0" "3401" "0" "c.*575T>C" "r.(=)" "p.(=)" "" "0000651140" "00000266" "30" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Arg811His)" "" "0000651141" "00000266" "30" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Gln478Arg)" "" "0000651142" "00000266" "50" "1198" "0" "1198" "0" "c.1198G>T" "r.(?)" "p.(Gly400Cys)" "" "0000654850" "00000266" "30" "1433" "0" "1433" "0" "c.1433A>G" "r.(?)" "p.(Gln478Arg)" "" "0000669756" "00000266" "50" "3401" "0" "3401" "0" "c.*575T>C" "r.(=)" "p.(=)" "" "0000669757" "00000266" "30" "2432" "0" "2432" "0" "c.2432G>A" "r.(?)" "p.(Arg811His)" "" "0000676886" "00000266" "50" "7743" "0" "7743" "0" "c.*4917C>T" "r.(=)" "p.(=)" "" "0000676887" "00000266" "50" "308" "0" "308" "0" "c.308G>A" "r.(?)" "p.(Arg103Gln)" "" "0000719283" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl?" "p.?" "3i" "0000850185" "00000266" "90" "2158" "1" "2158" "1" "c.2158+1G>A" "r.spl?" "p.?" "" "0000975667" "00000266" "30" "2230" "0" "2230" "0" "c.2230C>G" "r.(?)" "p.(Gln744Glu)" "" "0000975668" "00000266" "30" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "" "0000975669" "00000266" "50" "83" "0" "83" "0" "c.83A>C" "r.(?)" "p.(Glu28Ala)" "" "0000993447" "00000266" "90" "2596" "0" "2596" "0" "c.2596G>T" "r.(?)" "p.(Glu866*)" "" "0000993448" "00000266" "30" "2548" "0" "2548" "0" "c.2548A>G" "r.(?)" "p.(Thr850Ala)" "" "0000993449" "00000266" "30" "2057" "0" "2057" "0" "c.2057A>G" "r.(?)" "p.(Asn686Ser)" "" "0000993450" "00000266" "30" "1459" "0" "1459" "0" "c.1459C>G" "r.(?)" "p.(Leu487Val)" "" "0000993451" "00000266" "30" "900" "0" "900" "0" "c.900T>A" "r.(?)" "p.(His300Gln)" "" "0000993452" "00000266" "50" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Gln127Glu)" "" "0000993453" "00000266" "50" "68" "0" "68" "0" "c.68A>C" "r.(?)" "p.(Glu23Ala)" "" "0001027579" "00000266" "50" "1073" "0" "1073" "0" "c.1073C>T" "r.(?)" "p.(Thr358Ile)" "" "0001027580" "00000266" "90" "1167" "1261" "1167" "1261" "c.1167+1261A>G" "r.spl" "p.?" "" "0001027581" "00000266" "50" "1363" "-3" "1363" "-3" "c.1363-3delC" "r.spl?" "p.?" "" "0001027595" "00000266" "50" "1076" "0" "1076" "0" "c.1076A>C" "r.(?)" "p.(Lys359Thr)" "" "0001027596" "00000266" "30" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Ile)" "" "0001027612" "00000266" "30" "1417" "0" "1417" "0" "c.1417A>G" "r.(?)" "p.(Asn473Asp)" "" "0001027613" "00000266" "30" "1528" "-11" "1528" "-10" "c.1528-11_1528-10del" "r.spl?" "p.?" "" "0001027614" "00000266" "70" "1792" "0" "1792" "0" "c.1792G>T" "r.(?)" "p.(Glu598Ter)" "" "0001027615" "00000266" "30" "1885" "0" "1885" "0" "c.1885C>T" "r.(?)" "p.(Arg629Cys)" "" "0001027616" "00000266" "30" "2557" "0" "2557" "0" "c.2557C>T" "r.(?)" "p.(Arg853Cys)" "" "0001027617" "00000266" "70" "2660" "0" "2660" "0" "c.2660dup" "r.(?)" "p.(Ser888IlefsTer6)" "" "0001027694" "00000266" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Glu731AsnfsTer31)" "" "0001027695" "00000266" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Glu731AsnfsTer31)" "" "0001027696" "00000266" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Glu731AsnfsTer31)" "" "0001027697" "00000266" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Glu731AsnfsTer31)" "" "0001027698" "00000266" "90" "2190" "0" "2190" "0" "c.2190del" "r.(?)" "p.(Glu731AsnfsTer31)" "" "0001027699" "00000266" "90" "1072" "0" "1072" "0" "c.1072del" "r.(?)" "p.(Thr358GlnfsTer3)" "" "0001027700" "00000266" "90" "1072" "0" "1072" "0" "c.1072del" "r.(?)" "p.(Thr358GlnfsTer3)" "" "0001027701" "00000266" "90" "1072" "0" "1072" "0" "c.1072del" "r.(?)" "p.(Thr358GlnfsTer3)" "" "0001027702" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001027703" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001027704" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001027705" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001027706" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001027707" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001027708" "00000266" "90" "2357" "0" "2359" "0" "c.2357_2359delinsT" "r.(?)" "p.(Ser786IlefsTer33)" "" "0001027709" "00000266" "90" "2577" "0" "2577" "0" "c.2577C>A" "r.(?)" "p.(Tyr859Ter)" "" "0001027710" "00000266" "90" "2577" "0" "2577" "0" "c.2577C>A" "r.(?)" "p.(Tyr859Ter)" "" "0001027711" "00000266" "90" "1035" "-3" "1035" "-3" "c.1035-3C>G" "r.spl" "p.?" "" "0001027712" "00000266" "90" "1714" "0" "1714" "0" "c.1714C>T" "r.(?)" "p.(Arg572Ter)" "" "0001027713" "00000266" "90" "485" "0" "485" "0" "c.485dup" "r.(?)" "p.(Tyr163ValfsTer6)" "" "0001027714" "00000266" "90" "1411" "0" "1411" "0" "c.1411G>T" "r.(?)" "p.(Glu471Ter)" "" "0001027715" "00000266" "90" "1363" "-3" "1363" "-3" "c.1363-3delC" "r.spl" "p.?" "" "0001027716" "00000266" "50" "2408" "0" "2408" "0" "c.2408G>A" "r.(?)" "p.(Cys803Tyr)" "" "0001027717" "00000266" "50" "544" "0" "544" "0" "c.(544A>T^545C>G)" "r.(?)" "p.(Thr182Ser)" "" "0001027718" "00000266" "90" "1007" "0" "1010" "0" "c.1007_1010del" "r.(?)" "p.(Lys336ArgfsTer19)" "" "0001027719" "00000266" "90" "610" "-2" "610" "-2" "c.610-2A>G" "r.spl" "p.?" "" "0001027720" "00000266" "90" "2551" "0" "2551" "0" "c.2551G>T" "r.spl" "p.(Glu851Ter)" "" "0001027721" "00000266" "90" "2551" "0" "2551" "0" "c.2551G>T" "r.spl" "p.(Glu851Ter)" "" "0001027722" "00000266" "90" "2357" "0" "2359" "0" "c.2357_2359delinsT" "r.(?)" "p.(Ser786IlefsTer33)" "" "0001027723" "00000266" "90" "1167" "1261" "1167" "1261" "c.1167+1261A>G" "r.1167_1168ins[1167+1154_1167+1260]" "p.Glu390SerfsTer6" "" "0001027724" "00000266" "70" "1168" "-32" "1168" "-32" "c.1168-32A>G" "r.spl" "p.?" "" "0001027725" "00000266" "70" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Thr594Ile)" "" "0001027748" "00000266" "90" "1795" "0" "1795" "0" "c.1795C>T" "r.(?)" "p.(Arg599Ter)" "13" "0001027749" "00000266" "90" "526" "0" "527" "0" "c.526_527del" "r.(?)" "p.(Leu176Alafs*10)" "5" "0001027750" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl" "p.?" "3i" "0001030201" "00000266" "70" "1638" "0" "1638" "0" "c.1638A>C" "r.(1638A>C)" "p.(Glu546Asp)" "" "0001030202" "00000266" "70" "1638" "0" "1638" "0" "c.1638A>C" "r.(1638A>C)" "p.(Glu546Asp)" "" "0001033810" "00000266" "30" "2299" "0" "2299" "0" "c.2299T>C" "r.(?)" "p.(=)" "" "0001033811" "00000266" "50" "1888" "0" "1888" "0" "c.1888G>A" "r.(?)" "p.(Glu630Lys)" "" "0001033812" "00000266" "30" "1035" "0" "1035" "0" "c.1035G>A" "r.(?)" "p.(=)" "" "0001033813" "00000266" "30" "472" "0" "472" "0" "c.472C>G" "r.(?)" "p.(Leu158Val)" "" "0001033814" "00000266" "90" "357" "1" "357" "1" "c.357+1G>C" "r.spl?" "p.?" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000000217" "0000016120" "0000000217" "0000016121" "0000000220" "0000016123" "0000000220" "0000016124" "0000000221" "0000016125" "0000000222" "0000016126" "0000000222" "0000016127" "0000000223" "0000016128" "0000000223" "0001027749" "0000000224" "0000016129" "0000000225" "0000016130" "0000000225" "0001027750" "0000000226" "0000016131" "0000000241" "0001027748" "0000184282" "0000408299" "0000294450" "0000651139" "0000294451" "0000651140" "0000294452" "0000651141" "0000294453" "0000651142" "0000306068" "0000669756" "0000306069" "0000669757" "0000463950" "0001027579" "0000463950" "0001027595" "0000463951" "0001027580" "0000463952" "0001027581" "0000463952" "0001027596" "0000463968" "0001027612" "0000463969" "0001027613" "0000463970" "0001027614" "0000463971" "0001027615" "0000463972" "0001027616" "0000463973" "0001027617" "0000464049" "0001027694" "0000464050" "0001027695" "0000464051" "0001027696" "0000464052" "0001027697" "0000464053" "0001027698" "0000464054" "0001027699" "0000464055" "0001027700" "0000464056" "0001027701" "0000464056" "0001027718" "0000464057" "0001027702" "0000464058" "0001027703" "0000464059" "0001027704" "0000464059" "0001027719" "0000464060" "0001027705" "0000464060" "0001027720" "0000464061" "0001027706" "0000464061" "0001027721" "0000464062" "0001027707" "0000464062" "0001027722" "0000464063" "0001027708" "0000464063" "0001027723" "0000464064" "0001027709" "0000464065" "0001027710" "0000464066" "0001027711" "0000464067" "0001027712" "0000464068" "0001027713" "0000464069" "0001027714" "0000464070" "0001027715" "0000464070" "0001027724" "0000464070" "0001027725" "0000464071" "0001027716" "0000464072" "0001027717" "0000466278" "0001030201" "0000466279" "0001030202"