### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = CXorf59)
# 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}}"
"CXorf59" "chromosome X open reading frame 59" "X" "p21.1" "unknown" "NC_000023.10" "UD_132119011898" "" "https://www.LOVD.nl/CFAP47" "" "1" "26708" "286464" "301057" "1" "1" "1" "1" "NOTE: gene name changed from CXorf59 to CFAP47\r\nThis gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "" "" "1" "" "NOTE: gene name changed from CXorf59 to CFAP47" "-1" "" "-1" "00000" "2009-03-06 00:00:00" "00006" "2021-02-15 19:57:41" "00000" "2025-11-01 13:22:20"
## Transcripts ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00025626" "CXorf59" "transcript variant 1" "000" "NM_001304548.1" "" "NP_001291477.1" "" "" "" "-66" "9883" "9564" "35937851" "36403434" "00006" "2021-06-29 21:35:15" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00201" "INFM" "infertility, male (INFM)" "" "" "" "" "" "00006" "2013-09-14 21:03:39" "00006" "2015-12-07 07:11:25"
"01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04222" "PKD" "kidney disease, polycystic (PKD)" "" "" "" "" "" "00006" "2015-03-13 11:12:15" "00006" "2017-11-15 22:09:51"
"05121" "MD" "dystrophy, muscular (MD)" "" "" "" "" "" "00006" "2016-01-24 01:27:29" "" ""
"05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" ""
"05349" "CGD" "granulomatous disease, chronic" "" "" "" "" "" "00006" "2017-11-24 16:14:58" "00006" "2023-02-13 16:42:42"
"06940" "SPGFX3" "spermatogenic failure, X-linked, type 3" "XLR" "301059" "" "" "" "00006" "2022-06-06 22:14:00" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"CXorf59" "00201"
"CXorf59" "06940"
## Individuals ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}"
"00000208" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00000209" "" "" "" "1" "" "00037" "{PMID:Sun 2011:23143598}, {DOI:Sun 2011:10.1038/ng.2453}" "" "M" "no" "Netherlands" "" "0" "" "" "" ""
"00332232" "" "" "" "1" "" "00006" "{PMID:Liu 2021:33472045}" "" "M" "" "China" "" "0" "" "" "" "FamT115"
"00332233" "" "" "" "1" "" "00006" "{PMID:Liu 2021:33472045}" "" "M" "" "China" "" "0" "" "" "" "FamT176PatII1"
"00332234" "" "" "" "1" "" "00006" "{PMID:Liu 2021:33472045}" "" "M" "" "China" "" "0" "" "" "" "FamH025PatII1"
"00332235" "" "" "" "1" "" "00006" "{PMID:Liu 2021:33472045}" "" "M" "" "Australia" "" "0" "" "" "" "FamMA2603PatII1"
"00377057" "" "" "" "2" "" "00006" "{PMID:Waddell 2021:33977140}" "2-generation family, 2 affected brothers" "M" "" "Australia" "" "0" "" "" "" "FamEPatII1"
"00377059" "" "" "" "1" "" "00006" "{PMID:Waddell 2021:33977140}" "2-generation family, 1 affected, 1 carrier female" "M" "" "Australia" "" "0" "" "" "" "FamFPatII6"
"00411195" "" "" "" "1" "" "00006" "{PMID:Bai 2022:35615378}" "4-generation family, 1 affected, unaffected heterozygous parents, 2 unaffected males carrying DMD variant" "F;M" "no" "China" "" "0" "" "" "" "Fam1PatIV2"
"00431390" "" "" "" "1" "" "00006" "{PMID:Bi 2023:36712874}" "2-generation family, 1 affected, unaffected carrier mother/sister" "M" "" "China" "00y03m" "0" "" "" "" "patient"
"00431393" "" "" "" "1" "" "00006" "{PMID:Peng 2007:17300882}" "2-generation family, 1 affected, unaffected carrier mother" "M" "" "United States" "" "0" "" "" "" "Pat2"
"00448874" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat570"
"00448875" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat698"
"00448876" "" "" "" "1" "" "00006" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "M" "" "Japan" "" "0" "" "" "" "Pat1216"
"00467715" "" "" "" "1" "" "00006" "{DOI:Yang 2025:10.1101/2025.08.11.25333458}" "female DMD duplication carrier" "F" "" "China" "" "0" "" "" "" "Pat2"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 15
"{{individualid}}" "{{diseaseid}}"
"00000208" "01157"
"00000209" "01157"
"00332232" "00201"
"00332233" "00201"
"00332234" "00201"
"00332235" "00201"
"00377057" "05121"
"00377059" "05121"
"00411195" "05123"
"00431390" "00198"
"00431393" "05349"
"00448874" "04222"
"00448875" "04222"
"00448876" "04222"
"00467715" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00201, 01157, 04222, 05121, 05123, 05349, 06940
## Count = 14
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}"
"0000038983" "01157" "00000208" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)" "" "3w" "" "" "" "" "" "" "" "" ""
"0000038984" "01157" "00000209" "00006" "Familial, X-linked recessive" "" "central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml)" "" "07y04m" "" "" "" "" "" "" "" "" ""
"0000250419" "00201" "00332232" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" ""
"0000250420" "00201" "00332233" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" ""
"0000250421" "00201" "00332234" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" ""
"0000250422" "00201" "00332235" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "asthenoteratozoospermia" ""
"0000272248" "05121" "00377057" "00006" "Familial, autosomal recessive" "" "muscle weakness, calf hypertrophy, elevated serum CK (18889 U/L), 9y-wheelchair dependent, no cardiac/respiratory involvement; similarly affected brother" "06y" "" "" "WB 0-0.05 DMD" "" "" "" "" "" "" ""
"0000272250" "05121" "00377059" "00006" "Familial, autosomal recessive" "09y" "pProximal muscle weakness, positive Gowers sign, calf hypertrophy, elevated serum CK (24000 U/L); 9y-ambulant, toe walking; no cardiac/respiratory involvement; mother muscle pain, elevated serum CK (500 U/L)" "03y06m" "" "" "WB 0-0.05 DMD" "" "" "" "" "" "" ""
"0000303270" "05123" "00411195" "00006" "Familial, autosomal recessive" "" "see paper; ..., spinal muscular atrophy" "" "" "" "" "" "" "" "" "SMA1" "spinal muscular atrophy" ""
"0000321984" "00198" "00431390" "00006" "Familial, X-linked recessive" "00y03m" "see paper; ..., 3m-deceased (fulminant infection); 41w+1 birth Cesarean section macrosomia; 19d neonatal sepsis, soft/flat anterior fontanelle, mild tachypnea, clear air entry, heart rate 145 beats/min, no hepatosplenomegaly, full range motion four limbs, normoactive bowel sound; raised CK level, decreased gp91 expression, positive nitroblue tetrazolium test" "" "" "" "" "" "" "" "" "CGD;DMD" "" ""
"0000321988" "05349" "00431393" "00006" "Familial, X-linked recessive" "00y23m" "see paper; ..., 4m-seizure-like activity requiring hospitalization, skin infection groin, mpetigo; mild elevation transaminases, hepatosplenomegaly; chronic granulomatous disease" "00y04m" "" "" "" "" "" "" "" "CGB" "chronic granulomatous disease" ""
"0000338049" "04222" "00448874" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" ""
"0000338050" "04222" "00448875" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" ""
"0000338051" "04222" "00448876" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "polycystic kidney disease" ""
## Screenings ## Do not remove or alter this header ##
## Count = 15
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000209" "00000208" "1" "00037" "00001" "2012-09-13 12:02:03" "" "" "SEQ-NG-I" "DNA" "" ""
"0000000210" "00000209" "1" "00037" "00001" "2012-09-13 12:09:36" "" "" "SEQ-NG-I" "DNA" "" ""
"0000333452" "00332232" "1" "00006" "00006" "2021-02-15 19:28:29" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000333453" "00332233" "1" "00006" "00006" "2021-02-15 19:40:20" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000333454" "00332234" "1" "00006" "00006" "2021-02-15 19:46:45" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000333455" "00332235" "1" "00006" "00006" "2021-02-15 19:53:28" "" "" "SEQ-NG" "DNA" "" "WES"
"0000378262" "00377057" "1" "00006" "00006" "2021-06-29 21:26:35" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA" "" "WES"
"0000378264" "00377059" "1" "00006" "00006" "2021-06-29 21:56:14" "" "" "RT-PCR;SEQ;SEQ-NG" "DNA;RNA" "" "WGS"
"0000412460" "00411195" "1" "00006" "00006" "2022-06-06 21:41:18" "" "" "MLPA;SEQ;SEQ-ON;SEQ-PB" "DNA" "" ""
"0000432804" "00431390" "1" "00006" "00006" "2023-02-11 21:40:32" "" "" "SEQ-NG" "DNA" "" "CNVseq"
"0000432807" "00431393" "1" "00006" "00006" "2023-02-12 11:44:23" "" "" "PCR;SEQ" "DNA" "" ""
"0000450465" "00448874" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000450466" "00448875" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000450467" "00448876" "1" "00006" "00006" "2024-04-19 13:49:55" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000469381" "00467715" "1" "00006" "00006" "2025-10-28 17:29:28" "00006" "2025-10-28 18:15:00" "SEQ-NG" "DNA" "" "long-read WGS"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 8
"{{screeningid}}" "{{geneid}}"
"0000333452" "CXorf59"
"0000333453" "CXorf59"
"0000333454" "CXorf59"
"0000333455" "CXorf59"
"0000378262" "DMD"
"0000378264" "DMD"
"0000412460" "DMD"
"0000412460" "SMN1"
## 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 = 71
"{{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}}"
"0000006582" "20" "50" "X" "36091379" "36091379" "subst" "0.00976607" "00037" "CXorf59_000001" "g.36091379A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36073262A>C" "" "VUS" ""
"0000008641" "20" "50" "X" "36091379" "36091379" "subst" "0.00976607" "00037" "CXorf59_000001" "g.36091379A>C" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.36073262A>C" "" "VUS" ""
"0000253626" "0" "10" "X" "36403020" "36403020" "subst" "0.000690794" "01943" "CXorf30_000008" "g.36403020A>G" "" "" "" "CFAP47(NM_001304548.1):c.9463A>G (p.M3155V), CXorf30(NM_001098843.4):c.1801A>G (p.(Met601Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36384905A>G" "" "benign" ""
"0000273268" "0" "10" "X" "36385178" "36385178" "subst" "9.23668E-6" "01943" "CXorf30_000005" "g.36385178G>A" "" "" "" "CFAP47(NM_001304548.1):c.9121G>A (p.D3041N), CXorf30(NM_001098843.4):c.1459G>A (p.(Asp487Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36367063G>A" "" "benign" ""
"0000273269" "0" "50" "X" "36403048" "36403048" "subst" "1.78904E-5" "01943" "CXorf30_000009" "g.36403048G>A" "" "" "" "CFAP47(NM_001304548.1):c.9491G>A (p.R3164H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36384933G>A" "" "VUS" ""
"0000333667" "0" "50" "X" "35937926" "35937926" "subst" "0.000565461" "01804" "CXorf22_000001" "g.35937926C>T" "" "" "" "CXorf22(NM_152632.3):c.10C>T (p.(Gln4Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35919809C>T" "" "VUS" ""
"0000333669" "0" "50" "X" "35966458" "35966458" "subst" "0.00426136" "01804" "CXorf22_000003" "g.35966458A>G" "" "" "" "CXorf22(NM_152632.3):c.545A>G (p.(Gln182Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35948341A>G" "" "VUS" ""
"0000333670" "0" "50" "X" "35985829" "35985829" "subst" "0.00198188" "01804" "CXorf22_000004" "g.35985829C>T" "" "" "" "CXorf22(NM_152632.3):c.1694C>T (p.(Ser565Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35967712C>T" "" "VUS" ""
"0000333672" "0" "30" "X" "35990016" "35990016" "subst" "4.30248E-5" "01804" "CXorf22_000005" "g.35990016A>G" "" "" "" "CXORF22(NM_152632.3):c.2188A>G (p.(Thr730Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35971899A>G" "" "likely benign" ""
"0000333673" "0" "30" "X" "36007579" "36007579" "del" "0" "01804" "CXorf22_000006" "g.36007579del" "" "" "" "CFAP47(NM_152632.4):c.2857del (p.(Glu954AsnfsTer19))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.35989462del" "" "likely benign" ""
"0000333674" "0" "50" "X" "36103658" "36103658" "subst" "6.28737E-5" "01804" "CXorf59_000009" "g.36103658A>G" "" "" "" "CHDC2(NM_173695.2):c.641+3A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36085541A>G" "" "VUS" ""
"0000333675" "0" "50" "X" "36117970" "36117970" "subst" "0" "01804" "CXorf59_000010" "g.36117970A>G" "" "" "" "CHDC2(NM_173695.2):c.826A>G (p.(Thr276Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36099853A>G" "" "VUS" ""
"0000333676" "0" "50" "X" "36122632" "36122632" "subst" "0" "01804" "CXorf59_000011" "g.36122632G>A" "" "" "" "CHDC2(NM_173695.2):c.869G>A (p.(Arg290His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36104515G>A" "" "VUS" ""
"0000333678" "0" "50" "X" "36162895" "36162895" "subst" "0.000368361" "01804" "CXorf59_000013" "g.36162895A>G" "" "" "" "CHDC2(NM_173695.2):c.1478A>G (p.(His493Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36144778A>G" "" "VUS" ""
"0000333680" "0" "50" "X" "36329006" "36329006" "subst" "0.000318201" "01804" "CXorf30_000002" "g.36329006C>T" "" "" "" "CXorf30(NM_001098843.4):c.584C>T (p.(Thr195Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36310891C>T" "" "VUS" ""
"0000333681" "0" "50" "X" "36368166" "36368166" "subst" "0.00501902" "01804" "CXorf30_000003" "g.36368166G>A" "" "" "" "CXorf30(NM_001098843.4):c.955G>A (p.(Asp319Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36350051G>A" "" "VUS" ""
"0000333682" "0" "30" "X" "36385133" "36385133" "subst" "4.67644E-5" "01804" "CXorf30_000004" "g.36385133C>T" "" "" "" "CXorf30(NM_001098843.4):c.1414C>T (p.(Pro472Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36367018C>T" "" "likely benign" ""
"0000333683" "0" "50" "X" "36385178" "36385178" "subst" "9.23668E-6" "01804" "CXorf30_000005" "g.36385178G>A" "" "" "" "CFAP47(NM_001304548.1):c.9121G>A (p.D3041N), CXorf30(NM_001098843.4):c.1459G>A (p.(Asp487Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36367063G>A" "" "VUS" ""
"0000333685" "0" "50" "X" "36397482" "36397482" "subst" "0" "01804" "CXorf30_000007" "g.36397482C>T" "" "" "" "CXorf30(NM_001098843.4):c.1541C>T (p.(Thr514Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36379367C>T" "" "VUS" ""
"0000333686" "0" "50" "X" "36403020" "36403020" "subst" "0.000690794" "01804" "CXorf30_000008" "g.36403020A>G" "" "" "" "CFAP47(NM_001304548.1):c.9463A>G (p.M3155V), CXorf30(NM_001098843.4):c.1801A>G (p.(Met601Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36384905A>G" "" "VUS" ""
"0000575751" "0" "50" "X" "35938094" "35938094" "subst" "0" "01943" "CXorf59_000003" "g.35938094C>T" "" "" "" "CFAP47(NM_001304548.1):c.178C>T (p.L60F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35919977C>T" "" "VUS" ""
"0000575752" "0" "30" "X" "35971793" "35971793" "subst" "0.000468813" "01943" "CXorf59_000004" "g.35971793T>G" "" "" "" "CFAP47(NM_001304548.1):c.1131T>G (p.S377R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35953676T>G" "" "likely benign" ""
"0000575753" "0" "50" "X" "35974225" "35974225" "subst" "2.80021E-5" "01943" "CXorf59_000005" "g.35974225A>G" "" "" "" "CXorf22(NM_152632.3):c.1322A>G (p.E441G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35956108A>G" "" "VUS" ""
"0000575754" "0" "30" "X" "36064979" "36064979" "subst" "0" "01943" "CXorf59_000006" "g.36064979C>T" "" "" "" "CFAP47(NM_001304548.1):c.4016C>T (p.T1339I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36046862C>T" "" "likely benign" ""
"0000575755" "0" "30" "X" "36089996" "36089996" "subst" "0.00121044" "01804" "CXorf59_000007" "g.36089996A>T" "" "" "" "CHDC2(NM_173695.2):c.98A>T (p.(Asp33Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36071879A>T" "" "likely benign" ""
"0000575756" "0" "30" "X" "36091379" "36091379" "subst" "0.00976607" "01804" "CXorf59_000001" "g.36091379A>C" "" "" "" "CHDC2(NM_173695.2):c.314A>C (p.(His105Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36073262A>C" "" "likely benign" ""
"0000575758" "0" "30" "X" "36298728" "36298728" "subst" "0" "01943" "CXorf59_000014" "g.36298728T>C" "" "" "" "CFAP47(NM_001304548.1):c.7571T>C (p.L2524S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36280613T>C" "" "likely benign" ""
"0000575759" "0" "50" "X" "36298730" "36298730" "subst" "0" "01943" "CXorf59_000015" "g.36298730G>C" "" "" "" "CFAP47(NM_001304548.1):c.7573G>C (p.D2525H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36280615G>C" "" "VUS" ""
"0000575762" "0" "30" "X" "36322055" "36322055" "subst" "0.00101461" "01943" "CXorf59_000017" "g.36322055G>C" "" "" "" "CFAP47(NM_001304548.1):c.8062G>C (p.D2688H), CFAP47(NM_001304548.2):c.8062G>C (p.D2688H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36303940G>C" "" "likely benign" ""
"0000575763" "0" "30" "X" "36366340" "36366340" "subst" "0.000168262" "01943" "CXorf59_000018" "g.36366340C>T" "" "" "" "CFAP47(NM_001304548.1):c.8540C>T (p.T2847M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36348225C>T" "" "likely benign" ""
"0000619509" "0" "50" "X" "35938038" "35938038" "subst" "0" "01943" "CXorf59_000020" "g.35938038G>C" "" "" "" "CFAP47(NM_001304548.1):c.122G>C (p.R41P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.35919921G>C" "" "VUS" ""
"0000619510" "0" "50" "X" "36322019" "36322019" "subst" "0" "01943" "CXorf59_000022" "g.36322019C>G" "" "" "" "CFAP47(NM_001304548.1):c.8026C>G (p.Q2676E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36303904C>G" "" "VUS" ""
"0000624595" "0" "30" "X" "36065103" "36065103" "subst" "2.82212E-5" "01943" "CXorf59_000021" "g.36065103T>C" "" "" "" "CFAP47(NM_001304548.1):c.4140T>C (p.T1380=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36046986T>C" "" "likely benign" ""
"0000659273" "0" "30" "X" "36091449" "36091449" "subst" "5.63412E-6" "01943" "CXorf59_000023" "g.36091449C>T" "" "" "" "CFAP47(NM_001304548.1):c.4659C>T (p.P1553=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36073332C>T" "" "likely benign" ""
"0000682401" "0" "50" "X" "36366262" "36366262" "subst" "0" "01943" "CXorf59_000024" "g.36366262A>C" "" "" "" "CFAP47(NM_001304548.1):c.8462A>C (p.K2821T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000693570" "0" "50" "X" "36254939" "36254939" "subst" "5.2378E-5" "01943" "CXorf59_000025" "g.36254939C>T" "" "" "" "CFAP47(NM_001304548.1):c.7295C>T (p.T2432I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000693571" "0" "30" "X" "36379611" "36379611" "subst" "7.70159E-5" "01943" "CXorf59_000026" "g.36379611A>G" "" "" "" "CFAP47(NM_001304548.1):c.9018A>G (p.P3006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000728853" "0" "50" "X" "35993947" "35993947" "subst" "5.04914E-5" "01943" "CXorf59_000027" "g.35993947A>G" "" "" "" "CFAP47(NM_001304548.1):c.2630A>G (p.N877S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000728854" "0" "50" "X" "36049386" "36049386" "subst" "0" "01943" "CXorf59_000028" "g.36049386G>T" "" "" "" "CFAP47(NM_001304548.1):c.3573G>T (p.L1191F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000731103" "0" "90" "X" "36254190" "36254190" "subst" "0" "00006" "CXorf59_000029" "g.36254190T>A" "" "{PMID:Liu 2021:33472045}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000731104" "0" "90" "X" "36122712" "36122712" "subst" "0" "00006" "CXorf59_000030" "g.36122712A>G" "" "{PMID:Liu 2021:33472045}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000731105" "0" "90" "X" "36368217" "36368217" "subst" "0" "00006" "CXorf59_000029" "g.36368217C>A" "" "{PMID:Liu 2021:33472045}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000731106" "0" "90" "X" "34147944" "37312950" "del" "0" "00006" "CXorf59_000031" "g.(33000000_34147944)_(37312950_37400000)del" "" "{PMID:Liu 2021:33472045}" "" "chrX:(34147944-37312950)x1" "3.2Mb deletion" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic" ""
"0000790972" "20" "90" "X" "32521892" "35180364" "inv" "0" "00006" "DMD_068315" "g.32521892_35180364inv" "" "{PMID:Waddell 2021:33977140}" "" "" "2.6 Mb inversion incl. FAM47A, FAM47B, and TMEM47" "Germline" "" "" "0" "" "" "g.32503775_35162247inv" "" "pathogenic (recessive)" ""
"0000790974" "21" "90" "X" "32122714" "32419270" "" "0" "00006" "DMD_068316" "g.[32122714_32419270inv;ins32380518_32419270inv;32419271_32321498inv;ins32122714_32321498inv;32321499_36236088inv]" "" "{PMID:Waddell 2021:33977140}" "" "" "4.1-Mb inversion ex1-44 incl. non-contiguous duplication exons 31-37 and 43-44" "Germline" "" "" "0" "" "" "" "" "pathogenic" ""
"0000810325" "0" "30" "X" "36011366" "36011366" "subst" "0" "01943" "CXorf22_000014" "g.36011366A>G" "" "" "" "CFAP47(NM_001304548.1):c.3027A>G (p.P1009=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810326" "0" "30" "X" "36163431" "36163431" "subst" "0" "01943" "CXorf22_000015" "g.36163431G>A" "" "" "" "CFAP47(NM_001304548.1):c.5631G>A (p.V1877=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000810327" "0" "30" "X" "36317253" "36317253" "subst" "2.59212E-5" "01943" "CXorf22_000016" "g.36317253C>G" "" "" "" "CFAP47(NM_001304548.1):c.7848C>G (p.G2616=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000856574" "0" "30" "X" "36371751" "36371751" "subst" "0" "01943" "CXorf22_000018" "g.36371751G>A" "" "" "" "CFAP47(NM_001304548.1):c.8806G>A (p.V2936M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000867338" "0" "50" "X" "36009957" "36009957" "subst" "0" "01943" "CXorf22_000017" "g.36009957T>C" "" "" "" "CFAP47(NM_001304548.1):c.2864T>C (p.L955S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000869803" "11" "30" "X" "35945178" "35945179" "ins" "0" "00006" "DMD_068439" "g.35945178_35945179ins[31347969_31599228inv;35854874_35857033;35896471_35963296]" "" "{PMID:Bai 2022:35615378}" "" "dup ex56-61" "251.4 kb complex rearrangement (3 duplications 2.3, 13.5, and 66.6 kb (CFAP47 gene) and DMD dup) present in healthy father/maternal uncle" "Germline" "" "" "0" "" "" "g.35927061_35927062ins[31329852_31581111inv;35836757_35838916;35878354_35945179]" "" "likely benign (!)" ""
"0000918419" "21" "90" "X" "30577566" "38080045" "del" "0" "00006" "CYBB_000005" "g.(30300000_30577566)_(38080045_38200000)del" "" "{PMID:Bi 2023:36712874}" "" "hg19 30577566-38080045del" "7.5Mb deletion incl. GK, DMD, CFAP47, CYBB, XK, RPGR" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000918422" "21" "90" "X" "31683517" "37789444" "del" "0" "00006" "CYBB_000005" "g.31683517_37789444del" "" "{PMID:Peng 2007:17300882}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" ""
"0000971051" "0" "30" "X" "36322055" "36322055" "subst" "0.00101461" "02325" "CXorf59_000017" "g.36322055G>C" "" "" "" "CFAP47(NM_001304548.1):c.8062G>C (p.D2688H), CFAP47(NM_001304548.2):c.8062G>C (p.D2688H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000972443" "20" "50" "X" "35993926" "35993926" "subst" "0.000174027" "00006" "CXorf59_000034" "g.35993926G>A" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "candidate disease gene" "Germline/De novo (untested)" "" "" "0" "" "" "g.35975809G>A" "" "VUS" ""
"0000972444" "20" "50" "X" "35984818" "35984818" "subst" "0" "00006" "CXorf59_000033" "g.35984818T>G" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "candidate disease gene" "Germline/De novo (untested)" "" "" "0" "" "" "g.35966701T>G" "" "VUS" ""
"0000972445" "20" "50" "X" "35937933" "35937933" "subst" "9.54085E-5" "00006" "CXorf59_000032" "g.35937933G>A" "" "{DOI:Mori 2024:10.1101/2024.04.05.24304760}" "" "" "candidate disease gene" "Germline/De novo (untested)" "" "" "0" "" "" "g.35919816G>A" "" "VUS" ""
"0000984651" "0" "30" "X" "35966453" "35966453" "subst" "0.00100296" "01804" "CXorf22_000019" "g.35966453C>T" "" "" "" "CFAP47(NM_001304548.2):c.540C>T (p.(His180=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984652" "0" "30" "X" "36208172" "36208172" "subst" "0" "01804" "CXorf22_000020" "g.36208172T>G" "" "" "" "CFAP47(NM_001304548.2):c.6180T>G (p.(Ile2060Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000984653" "0" "30" "X" "36223104" "36223104" "subst" "0" "01804" "CXorf22_000021" "g.36223104A>T" "" "" "" "CFAP47(NM_001304548.2):c.6694A>T (p.(Arg2232Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001006727" "0" "30" "X" "36254066" "36254066" "subst" "0" "01804" "CXorf22_000022" "g.36254066G>A" "" "" "" "CXORF30(NM_001098843.4):c.-633G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001027490" "0" "50" "X" "36322007" "36322007" "subst" "0" "02327" "CXorf22_000023" "g.36322007A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044300" "0" "30" "X" "35969966" "35969966" "subst" "0" "01804" "CXorf22_000024" "g.35969966C>A" "" "" "" "CFAP47(NM_001304548.2):c.932C>A (p.(Thr311Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044301" "0" "50" "X" "36083821" "36083821" "subst" "3.4926E-5" "01804" "CXorf22_000025" "g.36083821G>A" "" "" "" "CFAP47(NM_001304548.2):c.4279G>A (p.(Ala1427Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044302" "0" "30" "X" "36089963" "36089965" "del" "0" "01804" "CXorf22_000026" "g.36089963_36089965del" "" "" "" "CFAP47(NM_001304548.2):c.4340_4342del (p.(Lys1447del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044303" "0" "30" "X" "36197538" "36197538" "subst" "0" "01804" "CXorf22_000027" "g.36197538G>A" "" "" "" "CFAP47(NM_001304548.2):c.6103G>A (p.(Asp2035Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044304" "0" "30" "X" "36254879" "36254879" "subst" "0.00117481" "01804" "CXorf22_000028" "g.36254879C>T" "" "" "" "CFAP47(NM_001304548.2):c.7235C>T (p.(Ser2412Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044305" "0" "30" "X" "36368205" "36368205" "subst" "0.00450643" "01804" "CXorf22_000029" "g.36368205A>G" "" "" "" "CFAP47(NM_001304548.2):c.8656A>G (p.(Ile2886Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001044306" "0" "30" "X" "36379441" "36379441" "del" "0" "01804" "CXorf22_000030" "g.36379441del" "" "" "" "CFAP47(NM_001304548.2):c.8852-4del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001049672" "0" "50" "X" "35945180" "35945181" "ins" "0" "00006" "DMD_070249" "g.35945180_35945181ins31347969_31599228" "" "{DOI:Yang 2025:10.1101/2025.08.11.25333458}" "" "dup ex56-61" "variant benign regarding DMD phenotype but might affect CFAP47 with associated male fertility phenotype" "Germline/De novo (untested)" "" "" "0" "" "" "g.35927063_35927064ins31329852_31581111" "" "benign (!)" ""
"0001057300" "0" "50" "X" "35984768" "35984770" "del" "0" "01804" "CXorf22_000031" "g.35984768_35984770del" "" "" "" "CFAP47(NM_001304548.2):c.1497_1499del (p.(Glu499del))" "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 CXorf59
## Count = 71
"{{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}}"
"0000006582" "00025626" "50" "4589" "0" "4589" "0" "c.4589A>C" "r.(?)" "p.(His1530Pro)" ""
"0000008641" "00025626" "50" "4589" "0" "4589" "0" "c.4589A>C" "r.(?)" "p.(His1530Pro)" ""
"0000253626" "00025626" "10" "9463" "0" "9463" "0" "c.9463A>G" "r.(?)" "p.(Met3155Val)" ""
"0000273268" "00025626" "10" "9121" "0" "9121" "0" "c.9121G>A" "r.(?)" "p.(Asp3041Asn)" ""
"0000273269" "00025626" "50" "9491" "0" "9491" "0" "c.9491G>A" "r.(?)" "p.(Arg3164His)" ""
"0000333667" "00025626" "50" "10" "0" "10" "0" "c.10C>T" "r.(?)" "p.(Gln4Ter)" ""
"0000333669" "00025626" "50" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Gln182Arg)" ""
"0000333670" "00025626" "50" "1694" "0" "1694" "0" "c.1694C>T" "r.(?)" "p.(Ser565Leu)" ""
"0000333672" "00025626" "30" "2188" "0" "2188" "0" "c.2188A>G" "r.(?)" "p.(Thr730Ala)" ""
"0000333673" "00025626" "30" "2844" "13" "2844" "13" "c.2844+13del" "r.(=)" "p.(=)" ""
"0000333674" "00025626" "50" "4916" "3" "4916" "3" "c.4916+3A>G" "r.spl?" "p.?" ""
"0000333675" "00025626" "50" "5101" "0" "5101" "0" "c.5101A>G" "r.(?)" "p.(Thr1701Ala)" ""
"0000333676" "00025626" "50" "5144" "0" "5144" "0" "c.5144G>A" "r.(?)" "p.(Arg1715His)" ""
"0000333678" "00025626" "50" "5536" "-441" "5536" "-441" "c.5536-441A>G" "r.(=)" "p.(=)" ""
"0000333680" "00025626" "50" "8246" "0" "8246" "0" "c.8246C>T" "r.(?)" "p.(Thr2749Met)" ""
"0000333681" "00025626" "50" "8617" "0" "8617" "0" "c.8617G>A" "r.(?)" "p.(Asp2873Asn)" ""
"0000333682" "00025626" "30" "9076" "0" "9076" "0" "c.9076C>T" "r.(?)" "p.(Pro3026Ser)" ""
"0000333683" "00025626" "50" "9121" "0" "9121" "0" "c.9121G>A" "r.(?)" "p.(Asp3041Asn)" ""
"0000333685" "00025626" "50" "9203" "0" "9203" "0" "c.9203C>T" "r.(?)" "p.(Thr3068Ile)" ""
"0000333686" "00025626" "50" "9463" "0" "9463" "0" "c.9463A>G" "r.(?)" "p.(Met3155Val)" ""
"0000575751" "00025626" "50" "178" "0" "178" "0" "c.178C>T" "r.(?)" "p.(Leu60Phe)" ""
"0000575752" "00025626" "30" "1131" "0" "1131" "0" "c.1131T>G" "r.(?)" "p.(Ser377Arg)" ""
"0000575753" "00025626" "50" "1322" "0" "1322" "0" "c.1322A>G" "r.(?)" "p.(Glu441Gly)" ""
"0000575754" "00025626" "30" "4016" "0" "4016" "0" "c.4016C>T" "r.(?)" "p.(Thr1339Ile)" ""
"0000575755" "00025626" "30" "4373" "0" "4373" "0" "c.4373A>T" "r.(?)" "p.(Asp1458Val)" ""
"0000575756" "00025626" "30" "4589" "0" "4589" "0" "c.4589A>C" "r.(?)" "p.(His1530Pro)" ""
"0000575758" "00025626" "30" "7571" "0" "7571" "0" "c.7571T>C" "r.(?)" "p.(Leu2524Ser)" ""
"0000575759" "00025626" "50" "7573" "0" "7573" "0" "c.7573G>C" "r.(?)" "p.(Asp2525His)" ""
"0000575762" "00025626" "30" "8062" "0" "8062" "0" "c.8062G>C" "r.(?)" "p.(Asp2688His)" ""
"0000575763" "00025626" "30" "8540" "0" "8540" "0" "c.8540C>T" "r.(?)" "p.(Thr2847Met)" ""
"0000619509" "00025626" "50" "122" "0" "122" "0" "c.122G>C" "r.(?)" "p.(Arg41Pro)" ""
"0000619510" "00025626" "50" "8026" "0" "8026" "0" "c.8026C>G" "r.(?)" "p.(Gln2676Glu)" ""
"0000624595" "00025626" "30" "4140" "0" "4140" "0" "c.4140T>C" "r.(?)" "p.(Thr1380=)" ""
"0000659273" "00025626" "30" "4659" "0" "4659" "0" "c.4659C>T" "r.(?)" "p.(Pro1553=)" ""
"0000682401" "00025626" "50" "8462" "0" "8462" "0" "c.8462A>C" "r.(?)" "p.(Lys2821Thr)" ""
"0000693570" "00025626" "50" "7295" "0" "7295" "0" "c.7295C>T" "r.(?)" "p.(Thr2432Ile)" ""
"0000693571" "00025626" "30" "9018" "0" "9018" "0" "c.9018A>G" "r.(?)" "p.(Pro3006=)" ""
"0000728853" "00025626" "50" "2630" "0" "2630" "0" "c.2630A>G" "r.(?)" "p.(Asn877Ser)" ""
"0000728854" "00025626" "50" "3573" "0" "3573" "0" "c.3573G>T" "r.(?)" "p.(Leu1191Phe)" ""
"0000731103" "00025626" "90" "7154" "0" "7154" "0" "c.7154T>A" "r.(?)" "p.(Ile2385Asn)" ""
"0000731104" "00025626" "90" "5224" "0" "5224" "0" "c.5224A>G" "r.(?)" "p.(Ser1742Gly)" ""
"0000731105" "00025626" "90" "8668" "0" "8668" "0" "c.8668C>A" "r.(?)" "p.(Pro2890Thr)" ""
"0000731106" "00025626" "90" "0" "0" "0" "0" "c.0" "r.0" "p.0" ""
"0000790972" "00025626" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "45i"
"0000790974" "00025626" "90" "0" "0" "0" "0" "c.-1_6818-10658{inv}" "r.?" "p.?" ""
"0000810325" "00025626" "30" "3027" "0" "3027" "0" "c.3027A>G" "r.(?)" "p.(Pro1009=)" ""
"0000810326" "00025626" "30" "5631" "0" "5631" "0" "c.5631G>A" "r.(?)" "p.(Val1877=)" ""
"0000810327" "00025626" "30" "7848" "0" "7848" "0" "c.7848C>G" "r.(?)" "p.(Gly2616=)" ""
"0000856574" "00025626" "30" "8806" "0" "8806" "0" "c.8806G>A" "r.(?)" "p.(Val2936Met)" ""
"0000867338" "00025626" "50" "2864" "0" "2864" "0" "c.2864T>C" "r.(?)" "p.(Leu955Ser)" ""
"0000869803" "00025626" "30" "0" "0" "0" "0" "c.-66_518-3135[2]" "r.?" "p.?" "_1_2i"
"0000918419" "00025626" "90" "0" "0" "0" "0" "c.-66_*313{0}" "r.0" "p.0" "_1_64_"
"0000918422" "00025626" "90" "0" "0" "0" "0" "c.-66_*313{0}" "r.0" "p.0" "_1_64_"
"0000971051" "00025626" "30" "8062" "0" "8062" "0" "c.8062G>C" "r.(?)" "p.(Asp2688His)" ""
"0000972443" "00025626" "50" "2609" "0" "2609" "0" "c.2609G>A" "r.(?)" "p.(Arg870Gln)" ""
"0000972444" "00025626" "50" "1547" "0" "1547" "0" "c.1547T>G" "r.(?)" "p.(Phe516Cys)" ""
"0000972445" "00025626" "50" "17" "0" "17" "0" "c.17G>A" "r.(?)" "p.(Gly6Asp)" ""
"0000984651" "00025626" "30" "540" "0" "540" "0" "c.540C>T" "r.(?)" "p.(=)" ""
"0000984652" "00025626" "30" "6180" "0" "6180" "0" "c.6180T>G" "r.(?)" "p.(Ile2060Met)" ""
"0000984653" "00025626" "30" "6694" "0" "6694" "0" "c.6694A>T" "r.(?)" "p.(Arg2232Trp)" ""
"0001006727" "00025626" "30" "7030" "0" "7030" "0" "c.7030G>A" "r.(?)" "p.(Asp2344Asn)" ""
"0001027490" "00025626" "50" "8014" "0" "8014" "0" "c.8014A>G" "r.(?)" "p.(Thr2672Ala)" ""
"0001044300" "00025626" "30" "932" "0" "932" "0" "c.932C>A" "r.(?)" "p.(Thr311Asn)" ""
"0001044301" "00025626" "50" "4279" "0" "4279" "0" "c.4279G>A" "r.(?)" "p.(Ala1427Thr)" ""
"0001044302" "00025626" "30" "4340" "0" "4342" "0" "c.4340_4342del" "r.(?)" "p.(Lys1447del)" ""
"0001044303" "00025626" "30" "6103" "0" "6103" "0" "c.6103G>A" "r.(?)" "p.(Asp2035Asn)" ""
"0001044304" "00025626" "30" "7235" "0" "7235" "0" "c.7235C>T" "r.(?)" "p.(Ser2412Leu)" ""
"0001044305" "00025626" "30" "8656" "0" "8656" "0" "c.8656A>G" "r.(?)" "p.(Ile2886Val)" ""
"0001044306" "00025626" "30" "8852" "-4" "8852" "-4" "c.8852-4del" "r.spl?" "p.?" ""
"0001049672" "00025626" "50" "401" "895" "401" "896" "c.401+895_401+896ins[ NC_000023.10:g.31347969_31599228]" "r.?" "p.?" "2i"
"0001057300" "00025626" "50" "1497" "0" "1499" "0" "c.1497_1499del" "r.(?)" "p.(Glu499del)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 15
"{{screeningid}}" "{{variantid}}"
"0000000209" "0000006582"
"0000000210" "0000008641"
"0000333452" "0000731103"
"0000333453" "0000731104"
"0000333454" "0000731105"
"0000333455" "0000731106"
"0000378262" "0000790972"
"0000378264" "0000790974"
"0000412460" "0000869803"
"0000432804" "0000918419"
"0000432807" "0000918422"
"0000450465" "0000972443"
"0000450466" "0000972444"
"0000450467" "0000972445"
"0000469381" "0001049672"