### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CENPF) # 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}}" "CENPF" "centromere protein F, 350/400kDa" "1" "q41" "unknown" "NC_000001.10" "UD_132319249382" "" "http://www.LOVD.nl/CENPF" "" "1" "1857" "1063" "600236" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/CENPF_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-03-08 21:07:26" "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}}" "00004961" "CENPF" "centromere protein F, 350/400kDa (mitosin)" "001" "NM_016343.3" "" "NP_057427.3" "" "" "" "-174" "10122" "9345" "214776532" "214837914" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "00393" "MCPH1" "microcephaly, type 1, primary, autosomal recessive (MCPH-1)" "AR" "251200" "" "" "" "00006" "2014-05-30 09:28:05" "00006" "2021-12-10 21:51:32" "04212" "BBS" "Bardet-Biedl syndrome (BBS)" "" "" "" "" "" "00006" "2015-02-27 19:01:43" "" "" "04403" "CILD31" "dyskinesia, ciliary, primary, type 31 (CILD-31)" "" "616369" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" "05102" "STROMS" "Stromme syndrome (STROMS)" "AR" "243605" "" "" "" "00006" "2015-11-19 00:00:35" "00006" "2021-12-10 21:51:32" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "CENPF" "04403" ## Individuals ## Do not remove or alter this header ## ## Count = 14 "{{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}}" "00034029" "" "" "" "4" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "2-generation family, 4 fetuses (mid-gestation lethality), unaffected heterozygous carrier parents" "" "no" "United Kingdom (Great Britain)" "<00y00m00d" "0" "" "" "European, white" "" "00034030" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "" "" "0" "" "" "" "" "00034031" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00034032" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00034033" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00034034" "" "" "" "1" "" "00006" "{PMID:Waters 2015:25564561}, {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "" "" "0" "" "" "" "" "00054758" "" "" "" "2" "" "01466" "{PMID:Filges 2016:26820108}" "2-generation family, 2 affected sisters, unaffected heterozygous carrier parents" "F" "no" "Norway" "" "0" "" "" "Caucasion" "26820108-FamA" "00181108" "" "" "" "2" "" "02575" "{PMID:Filges 2016:26820108}" "2-generation family, 2 affected (F, fetus), unaffected heterozygous carrier parents" "F" "?" "" "" "0" "" "" "" "26820108-FamB" "00181148" "" "" "00181108" "1" "" "02575" "{PMID:Filges 2016:26820108}" "" "M" "?" "" "" "0" "" "" "" "26820108-FamB" "00289683" "" "" "" "34" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00301705" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "" "" "0" "" "" "" "17-1561" "00415062" "" "" "" "3" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "M" "yes" "" "" "0" "" "" "" "Pat3-1" "00415063" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "brother" "M" "yes" "" "" "0" "" "" "" "Pat3-2" "00415064" "" "" "" "1" "" "00006" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "brother" "M" "yes" "" "" "0" "" "" "" "Pat3-3" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 14 "{{individualid}}" "{{diseaseid}}" "00034029" "00198" "00034030" "00393" "00034031" "04212" "00034032" "04212" "00034033" "04212" "00034034" "04212" "00054758" "05102" "00181108" "05102" "00181148" "05102" "00289683" "00198" "00301705" "00198" "00415062" "05611" "00415063" "05611" "00415064" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00393, 04212, 04403, 05102, 05611 ## Count = 13 "{{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}}" "0000027424" "00198" "00034029" "00006" "Familial, autosomal recessive" "<00y00m00d" "see paper; mid-gestation lethality, ciliopathic malformations, microcephaly, ..." "<00y00m00d" "" "" "" "" "" "" "" "" "" "" "0000027425" "00393" "00034030" "00006" "Isolated (sporadic)" "" "MCPH, mild to moderate learning difficulties; occipital head circumference (OFC) at birth: 29.5 cm (<0.4th centile); adult OFC 45.5 cm, (<0.4th centile); other body systems unaffected, overall growth normal" "" "" "" "" "" "" "" "" "" "" "" "0000027426" "04212" "00034031" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027427" "04212" "00034032" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027428" "04212" "00034033" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000027429" "04212" "00034034" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000041453" "05102" "00054758" "01466" "Familial, autosomal recessive" "" "Strømme syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000143354" "05102" "00181108" "02575" "Familial, autosomal recessive" "" "Microphthalmia, Xiphoid cleft, Hydronephrosis, duodenal atresia and «apple peel» atresia" "" "" "" "" "" "" "" "" "Stromme syndrome" "" "" "0000143370" "05102" "00181148" "02575" "Familial, autosomal recessive" "" "Xiphoid cleft (HP:0100891), Renal hypoplasia (HP:0000089), duodenal atresia (HP:0002247), jejunal atresia (HP:0005235)" "" "" "" "" "" "" "" "" "" "" "" "0000228803" "00198" "00301705" "00006" "Familial, autosomal recessive" "5y" "global developmental delay, growth retardation and severe microcephaly (OFC -5.5 SD below the mean), dysmorphism (small head, low anterior and posterior hair line, triangular face, prominent nose, high arched palate), hyperextensible joints, atrial septal defect (closed), absent left kidney, and cryptorchidism. MRI brain showed reduced overall white matter volume with borderline pachygyria appearance. Molecular karyotyping is normal." "" "" "" "" "" "" "" "" "" "" "" "0000306863" "05611" "00415062" "00006" "Familial, autosomal dominant" "11y" "see paper; ..., profound developmental delay, no speech, unable to sit; 7m-epileptic spasms, focal, tonic clonic, tonic seizures; MRI periventricular leukomalacia, metopic synostosis; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; poor fixation" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000306864" "05611" "00415063" "00006" "Familial, autosomal dominant" "07y" "see paper; ..., profound developmental delay, no speech, unable to sit; 2m-epileptic spasms, Lennox-Gastaut syndrome; 2y-MRI moderate hyperintensity of periventricular white matter, mild ventriculomegaly; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" "0000306865" "05611" "00415064" "00006" "Familial, autosomal dominant" "06y" "see paper; ..., profound developmental delay, no speech, unable to sit; 1d-epileptic spasms, focal, multifocal seizures; 3d-MRI ventriculomegaly, abnormal signal intensity of the white matter, bilateral temporal and left occipital pachygyria; intracranial calcifications; spastic tetraplegia; microcephaly; small for gestational age, low weight; congenital heart defect; no ophthalmologic features" "" "" "" "" "" "" "" "" "" "neurodevelopmental delay" "" ## Screenings ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000034097" "00034029" "1" "00006" "00006" "2015-03-08 20:55:29" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034098" "00034030" "1" "00006" "00006" "2015-03-08 21:12:34" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000034099" "00034031" "1" "00006" "00006" "2015-03-08 21:27:49" "" "" "SEQ" "DNA" "" "" "0000034100" "00034032" "1" "00006" "00006" "2015-03-08 21:37:39" "00006" "2015-03-08 21:45:20" "SEQ" "DNA" "" "" "0000034101" "00034033" "1" "00006" "00006" "2015-03-08 21:49:42" "" "" "SEQ" "DNA" "" "" "0000034102" "00034034" "1" "00006" "00006" "2015-03-08 21:57:26" "" "" "SEQ" "DNA" "" "" "0000054704" "00054758" "1" "01466" "01466" "2015-11-17 15:41:23" "00006" "2015-11-20 08:37:27" "SEQ-NG-I" "DNA" "Blood" "" "0000182065" "00181108" "1" "02575" "02575" "2018-09-28 14:23:53" "" "" "SEQ-NG" "DNA" "" "" "0000182106" "00181148" "1" "02575" "02575" "2018-10-01 21:02:38" "" "" "SEQ-NG" "DNA" "" "" "0000290851" "00289683" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000302829" "00301705" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000416343" "00415062" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416344" "00415063" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000416345" "00415064" "1" "00006" "00006" "2022-08-06 22:07:04" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 14 "{{screeningid}}" "{{geneid}}" "0000034097" "CENPF" "0000034098" "CENPF" "0000034099" "BBS10" "0000034099" "CENPF" "0000034100" "BBS12" "0000034100" "CENPF" "0000034101" "BBS12" "0000034101" "CENPF" "0000034102" "BBS10" "0000034102" "CENPF" "0000054704" "CENPF" "0000182065" "CENPF" "0000182106" "CENPF" "0000302829" "CENPF" ## 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 = 80 "{{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}}" "0000061096" "21" "90" "1" "214813425" "214813425" "subst" "4.7812E-5" "00006" "CENPF_000001" "g.214813425G>T" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "not in 400 control chromosomes; exome sequencing" "Germline" "yes" "" "0" "" "" "g.214640082G>T" "" "pathogenic" "" "0000061097" "11" "90" "1" "214793996" "214793996" "subst" "8.38588E-6" "00006" "CENPF_000002" "g.214793996A>C" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "IVS5-2A>C" "not in 400 control chromosomes; exome sequencing" "Germline" "yes" "" "0" "" "" "g.214620653A>C" "" "pathogenic" "" "0000061098" "11" "90" "1" "214813425" "214813425" "subst" "4.7812E-5" "00006" "CENPF_000001" "g.214813425G>T" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "Germline" "yes" "" "0" "" "" "g.214640082G>T" "" "pathogenic" "" "0000061099" "21" "90" "1" "214830482" "214830482" "subst" "0" "00006" "CENPF_000003" "g.214830482C>T" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "Germline" "yes" "" "0" "" "" "g.214657139C>T" "" "pathogenic" "" "0000061102" "0" "70" "1" "214816263" "214816263" "subst" "0.000314578" "00006" "CENPF_000004" "g.214816263T>C" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "Unknown" "" "" "0" "" "" "g.214642920T>C" "" "likely pathogenic" "" "0000061103" "0" "70" "1" "214818291" "214818291" "subst" "0.00240712" "00006" "CENPF_000005" "g.214818291G>A" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "Unknown" "" "" "0" "" "" "g.214644948G>A" "" "likely pathogenic" "" "0000061108" "0" "30" "1" "214819839" "214819839" "subst" "0.000876928" "00006" "CENPF_000006" "g.214819839G>A" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "Unknown" "" "" "0" "" "" "g.214646496G>A" "" "likely benign" "" "0000061109" "0" "70" "1" "214822091" "214822091" "subst" "0" "00006" "CENPF_000007" "g.214822091T>C" "" "{PMID:Waters 2015:25564561), {DOI:Waters 2015:10.1136/jmedgenet-2014-102691}" "" "" "" "Unknown" "" "" "0" "" "" "g.214648748T>C" "" "likely pathogenic" "" "0000084675" "21" "70" "1" "214814415" "214814415" "subst" "4.47392E-5" "01466" "CENPF_000008" "g.214814415G>T" "" "{PMID:Filges 2016:26820108}, correction in {PMID:Filges 2016:27300082}" "" "2734C>T" "" "Germline" "yes" "" "0" "" "" "g.214641072G>T" "" "pathogenic (recessive)" "" "0000084677" "11" "70" "1" "214788183" "214788211" "del" "0" "01466" "CENPF_000009" "g.214788183_214788211del" "" "{PMID:Filges 2016:26820108}" "" "165_193del" "" "Germline" "yes" "" "0" "" "" "g.214614840_214614868del" "" "likely pathogenic" "" "0000405882" "11" "90" "1" "214813425" "214813425" "subst" "4.7812E-5" "02575" "CENPF_000001" "g.214813425G>T" "" "{PMID:Filges 2016:26820108}" "" "" "" "Germline" "yes" "rs367624766" "0" "" "" "g.214640082G>T" "" "pathogenic (dominant)" "" "0000405883" "21" "90" "1" "214837072" "214837072" "subst" "0" "02575" "CENPF_000010" "g.214837072C>T" "" "{PMID:Filges 2016:26820108}" "" "" "" "Germline" "yes" "rs869312748" "0" "" "" "g.214663729C>T" "" "pathogenic (dominant)" "" "0000405931" "11" "90" "1" "214813425" "214813425" "subst" "4.7812E-5" "02575" "CENPF_000001" "g.214813425G>T" "" "{PMID:Filges 2016:26820108}" "" "" "" "Germline" "yes" "" "0" "" "" "g.214640082G>T" "" "pathogenic (dominant)" "" "0000405932" "21" "90" "1" "214837072" "214837072" "subst" "0" "02575" "CENPF_000010" "g.214837072C>T" "" "{PMID:Filges 2016:26820108}" "" "" "" "Germline" "yes" "" "0" "" "" "g.214663729C>T" "" "pathogenic (dominant)" "" "0000505125" "0" "50" "1" "214814824" "214814824" "subst" "0" "02325" "CENPF_000014" "g.214814824A>G" "" "" "" "CENPF(NM_016343.4):c.3143A>G (p.E1048G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214641481A>G" "" "VUS" "" "0000505128" "0" "50" "1" "214815492" "214815492" "subst" "0.0024051" "01943" "CENPF_000017" "g.214815492A>G" "" "" "" "CENPF(NM_016343.3):c.3811A>G (p.K1271E), CENPF(NM_016343.4):c.3811A>G (p.K1271E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214642149A>G" "" "VUS" "" "0000505131" "0" "30" "1" "214818291" "214818291" "subst" "0.00240712" "01943" "CENPF_000005" "g.214818291G>A" "" "" "" "CENPF(NM_016343.3):c.5378G>A (p.R1793H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214644948G>A" "" "likely benign" "" "0000505133" "0" "50" "1" "214818617" "214818617" "subst" "8.14113E-6" "01943" "CENPF_000021" "g.214818617A>C" "" "" "" "CENPF(NM_016343.3):c.5704A>C (p.N1902H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214645274A>C" "" "VUS" "" "0000505135" "0" "50" "1" "214819353" "214819353" "subst" "4.49938E-5" "02325" "CENPF_000023" "g.214819353G>A" "" "" "" "CENPF(NM_016343.4):c.6440G>A (p.R2147Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214646010G>A" "" "VUS" "" "0000505137" "0" "30" "1" "214820130" "214820130" "subst" "0" "01804" "CENPF_000025" "g.214820130A>G" "" "" "" "CENPF(NM_016343.3):c.7217A>G (p.(Glu2406Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214646787A>G" "" "likely benign" "" "0000505138" "0" "50" "1" "214820437" "214820437" "subst" "6.52923E-5" "01943" "CENPF_000026" "g.214820437A>G" "" "" "" "CENPF(NM_016343.3):c.7524A>G (p.Q2508=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214647094A>G" "" "VUS" "" "0000605139" "0" "30" "1" "214816263" "214816263" "subst" "0.000314578" "01943" "CENPF_000004" "g.214816263T>C" "" "" "" "CENPF(NM_016343.3):c.4582T>C (p.C1528R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214642920T>C" "" "likely benign" "" "0000605140" "0" "90" "1" "214817912" "214817912" "subst" "6.03547E-5" "02325" "CENPF_000030" "g.214817912C>T" "" "" "" "CENPF(NM_016343.4):c.4999C>T (p.R1667*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214644569C>T" "" "pathogenic" "" "0000605141" "0" "50" "1" "214828652" "214828652" "subst" "2.88213E-5" "02325" "CENPF_000031" "g.214828652G>C" "" "" "" "CENPF(NM_016343.4):c.8391G>C (p.L2797F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214655309G>C" "" "VUS" "" "0000620494" "0" "30" "1" "214815863" "214815863" "subst" "0.00379488" "01943" "CENPF_000029" "g.214815863A>G" "" "" "" "CENPF(NM_016343.3):c.4182A>G (p.T1394=), CENPF(NM_016343.4):c.4182A>G (p.T1394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214642520A>G" "" "likely benign" "" "0000647540" "1" "10" "1" "214815304" "214815304" "subst" "0.0120281" "03575" "CENPF_000032" "g.214815304C>T" "34/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "34 heterozygous, no homozygous; {DB:CLININrs114717799}" "Germline" "" "rs114717799" "0" "" "" "g.214641961C>T" "" "benign" "" "0000653881" "0" "90" "1" "214815258" "214815258" "subst" "0" "01943" "CENPF_000034" "g.214815258C>T" "" "" "" "CENPF(NM_016343.3):c.3577C>T (p.Q1193*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.214641915C>T" "" "pathogenic" "" "0000666186" "3" "70" "1" "214814977" "214814977" "del" "0" "00006" "CENPF_000035" "g.214814977del" "" "{PMID:Maddirevula 2019:30237576}" "" "c.3296delT" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.214641634del" "" "likely pathogenic (recessive)" "ACMG" "0000675628" "0" "50" "1" "214816400" "214816400" "subst" "0" "01943" "CENPF_000036" "g.214816400A>C" "" "" "" "CENPF(NM_016343.3):c.4719A>C (p.Q1573H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717131" "0" "50" "1" "214795521" "214795521" "subst" "0.000634146" "01943" "CENPF_000037" "g.214795521T>C" "" "" "" "CENPF(NM_016343.3):c.965T>C (p.L322P), CENPF(NM_016343.4):c.965T>C (p.L322P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717132" "0" "50" "1" "214803941" "214803941" "subst" "0" "01943" "CENPF_000038" "g.214803941G>T" "" "" "" "CENPF(NM_016343.3):c.1259G>T (p.R420I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717133" "0" "30" "1" "214814632" "214814632" "subst" "4.22411E-6" "01943" "CENPF_000039" "g.214814632C>T" "" "" "" "CENPF(NM_016343.3):c.2951C>T (p.A984V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000717134" "0" "50" "1" "214815609" "214815609" "subst" "0.000281527" "02329" "CENPF_000011" "g.214815609C>G" "" "" "" "CENPF(NM_016343.4):c.3928C>G (p.L1310V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717135" "0" "50" "1" "214818912" "214818912" "subst" "0.000480793" "01943" "CENPF_000040" "g.214818912A>G" "" "" "" "CENPF(NM_016343.3):c.5999A>G (p.H2000R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717136" "0" "50" "1" "214819839" "214819839" "subst" "0.000876928" "01943" "CENPF_000006" "g.214819839G>A" "" "" "" "CENPF(NM_016343.3):c.6926G>A (p.R2309H), CENPF(NM_016343.4):c.6926G>A (p.R2309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717137" "0" "50" "1" "214820239" "214820239" "subst" "0.000276677" "02329" "CENPF_000012" "g.214820239G>A" "" "" "" "CENPF(NM_016343.4):c.7326G>A (p.M2442I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000717138" "0" "50" "1" "214832208" "214832208" "subst" "5.7233E-5" "01943" "CENPF_000041" "g.214832208C>T" "" "" "" "CENPF(NM_016343.3):c.8978C>T (p.P2993L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799065" "0" "50" "1" "214802390" "214802390" "subst" "0.000487924" "02325" "CENPF_000042" "g.214802390A>G" "" "" "" "CENPF(NM_016343.4):c.1070A>G (p.Y357C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799066" "0" "50" "1" "214813932" "214813932" "subst" "4.07375E-5" "02325" "CENPF_000043" "g.214813932C>T" "" "" "" "CENPF(NM_016343.4):c.2251C>T (p.R751W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799067" "0" "50" "1" "214816029" "214816029" "subst" "0.000101768" "01943" "CENPF_000044" "g.214816029T>A" "" "" "" "CENPF(NM_016343.3):c.4348T>A (p.S1450T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000848511" "0" "30" "1" "214814694" "214814694" "subst" "0.00061239" "01943" "CENPF_000048" "g.214814694G>C" "" "" "" "CENPF(NM_016343.3):c.3013G>C (p.D1005H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848512" "0" "30" "1" "214815863" "214815863" "subst" "0.00379488" "02326" "CENPF_000029" "g.214815863A>G" "" "" "" "CENPF(NM_016343.3):c.4182A>G (p.T1394=), CENPF(NM_016343.4):c.4182A>G (p.T1394=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000848513" "0" "10" "1" "214832311" "214832311" "subst" "0.00331838" "02326" "CENPF_000051" "g.214832311C>T" "" "" "" "CENPF(NM_016343.4):c.9081C>T (p.L3027=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857261" "0" "30" "1" "214788342" "214788342" "subst" "0.000377615" "01943" "CENPF_000045" "g.214788342A>G" "" "" "" "CENPF(NM_016343.3):c.330A>G (p.Q110=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857262" "0" "30" "1" "214811213" "214811213" "subst" "0" "01943" "CENPF_000046" "g.214811213T>C" "" "" "" "CENPF(NM_016343.3):c.1451T>C (p.M484T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857263" "0" "50" "1" "214811219" "214811219" "subst" "0" "01943" "CENPF_000047" "g.214811219A>G" "" "" "" "CENPF(NM_016343.3):c.1457A>G (p.K486R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000857264" "0" "10" "1" "214814988" "214814988" "subst" "0.00294801" "02326" "CENPF_000049" "g.214814988T>C" "" "" "" "CENPF(NM_016343.4):c.3307T>C (p.L1103=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857265" "0" "10" "1" "214815304" "214815304" "subst" "0.0120281" "01804" "CENPF_000032" "g.214815304C>T" "" "" "" "CENPF(NM_016343.3):c.3623C>T (p.(Ala1208Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000857266" "0" "30" "1" "214830526" "214830526" "subst" "0.000805317" "02326" "CENPF_000050" "g.214830526A>C" "" "" "" "CENPF(NM_016343.3):c.8736A>C (p.(Pro2912=)), CENPF(NM_016343.4):c.8736A>C (p.P2912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874417" "3" "50" "1" "214818727" "214818727" "subst" "0" "00006" "CENPF_000052" "g.214818727C>A" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000874418" "1" "50" "1" "214818727" "214818727" "subst" "0" "00006" "CENPF_000052" "g.214818727C>A" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "no" "" "0" "" "" "" "" "VUS" "" "0000874419" "3" "50" "1" "214818727" "214818727" "subst" "0" "00006" "CENPF_000052" "g.214818727C>A" "" "{PMID:Rosenhahn 2022:35830857}, {DOI:Rosenhahn 2022:10.1016/j.ajhg.2022.06.008}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000883101" "0" "30" "1" "214813792" "214813792" "subst" "0.000110042" "02326" "CENPF_000053" "g.214813792A>G" "" "" "" "CENPF(NM_016343.4):c.2111A>G (p.Q704R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883102" "0" "30" "1" "214815298" "214815298" "subst" "0.00257993" "02326" "CENPF_000054" "g.214815298A>G" "" "" "" "CENPF(NM_016343.4):c.3617A>G (p.Y1206C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883103" "0" "30" "1" "214819882" "214819882" "subst" "0.00225032" "02326" "CENPF_000055" "g.214819882A>G" "" "" "" "CENPF(NM_016343.4):c.6969A>G (p.Q2323=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883104" "0" "30" "1" "214820419" "214820419" "subst" "0.00245686" "02326" "CENPF_000056" "g.214820419A>G" "" "" "" "CENPF(NM_016343.4):c.7506A>G (p.S2502=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000883105" "0" "30" "1" "214832184" "214832184" "dup" "0" "02326" "CENPF_000057" "g.214832184dup" "" "" "" "CENPF(NM_016343.4):c.8963-9dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910928" "0" "30" "1" "214815050" "214815050" "subst" "0.00165542" "02326" "CENPF_000058" "g.214815050C>T" "" "" "" "CENPF(NM_016343.4):c.3369C>T (p.S1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000910929" "0" "30" "1" "214815655" "214815655" "subst" "0.000130566" "02326" "CENPF_000059" "g.214815655G>A" "" "" "" "CENPF(NM_016343.4):c.3974G>A (p.R1325K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923066" "0" "50" "1" "214795521" "214795521" "subst" "0.000634146" "02325" "CENPF_000037" "g.214795521T>C" "" "" "" "CENPF(NM_016343.3):c.965T>C (p.L322P), CENPF(NM_016343.4):c.965T>C (p.L322P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000923067" "0" "50" "1" "214825152" "214825152" "subst" "1.63125E-5" "02325" "CENPF_000060" "g.214825152G>A" "" "" "" "CENPF(NM_016343.4):c.8083G>A (p.E2695K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928103" "0" "90" "1" "214815455" "214815455" "del" "0" "02326" "CENPF_000061" "g.214815455del" "" "" "" "CENPF(NM_016343.4):c.3774delT (p.S1259Vfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000947116" "0" "90" "1" "214813455" "214813458" "del" "0" "02326" "CENPF_000062" "g.214813455_214813458del" "" "" "" "CENPF(NM_016343.4):c.1774_1777delGAGA (p.E592Kfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000960792" "0" "30" "1" "214830592" "214830592" "subst" "0.000146521" "02326" "CENPF_000066" "g.214830592A>G" "" "" "" "CENPF(NM_016343.4):c.8802A>G (p.R2934=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973616" "0" "50" "1" "214794059" "214794059" "subst" "0.000386031" "01804" "CENPF_000067" "g.214794059C>A" "" "" "" "CENPF(NM_016343.4):c.635C>A (p.(Ala212Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973617" "0" "50" "1" "214818433" "214818433" "dup" "0" "01804" "CENPF_000068" "g.214818433dup" "" "" "" "CENPF(NM_016343.4):c.5520dup (p.(Asp1841ArgfsTer4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973618" "0" "50" "1" "214819445" "214819445" "subst" "0.000118756" "01804" "CENPF_000069" "g.214819445G>A" "" "" "" "CENPF(NM_016343.4):c.6532G>A (p.(Glu2178Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973619" "0" "50" "1" "214820227" "214820229" "dup" "0" "01804" "CENPF_000070" "g.214820227_214820229dup" "" "" "" "CENPF(NM_016343.4):c.7314_7316dup (p.(Ala2439dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973620" "0" "50" "1" "214826333" "214826333" "subst" "1.66765E-5" "01804" "CENPF_000071" "g.214826333G>T" "" "" "" "CENPF(NM_016343.4):c.8322+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000973621" "0" "30" "1" "214830526" "214830526" "subst" "0.000805317" "01804" "CENPF_000050" "g.214830526A>C" "" "" "" "CENPF(NM_016343.3):c.8736A>C (p.(Pro2912=)), CENPF(NM_016343.4):c.8736A>C (p.P2912=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000973622" "0" "50" "1" "214836979" "214836979" "subst" "2.84407E-5" "01804" "CENPF_000072" "g.214836979C>T" "" "" "" "CENPF(NM_016343.4):c.9187C>T (p.(Arg3063Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990817" "0" "50" "1" "214794191" "214794191" "subst" "9.35324E-5" "01804" "CENPF_000073" "g.214794191G>A" "" "" "" "CENPF(NM_016343.3):c.767G>A (p.(Arg256Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000990818" "0" "30" "1" "214813734" "214813734" "subst" "0" "01804" "CENPF_000074" "g.214813734G>A" "" "" "" "CENPF(NM_016343.3):c.2053G>A (p.(Val685Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990819" "0" "30" "1" "214816371" "214816371" "subst" "6.22427E-5" "01804" "CENPF_000075" "g.214816371G>A" "" "" "" "CENPF(NM_016343.3):c.4690G>A (p.(Glu1564Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013273" "0" "30" "1" "214815492" "214815492" "subst" "0.0024051" "02326" "CENPF_000017" "g.214815492A>G" "" "" "" "CENPF(NM_016343.3):c.3811A>G (p.K1271E), CENPF(NM_016343.4):c.3811A>G (p.K1271E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024102" "0" "30" "1" "214791982" "214791982" "subst" "6.09454E-5" "02326" "CENPF_000076" "g.214791982C>T" "" "" "" "CENPF(NM_016343.4):c.426C>T (p.C142=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024103" "0" "50" "1" "214826333" "214826333" "subst" "1.66765E-5" "02325" "CENPF_000071" "g.214826333G>T" "" "" "" "CENPF(NM_016343.4):c.8322+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031646" "0" "30" "1" "214795418" "214795418" "subst" "8.21618E-6" "01804" "CENPF_000077" "g.214795418C>T" "" "" "" "CENPF(NM_016343.4):c.866-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001031647" "0" "50" "1" "214819304" "214819304" "subst" "0.000147074" "01804" "CENPF_000078" "g.214819304G>A" "" "" "" "CENPF(NM_016343.4):c.6391G>A (p.(Asp2131Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001031648" "0" "30" "1" "214819839" "214819839" "subst" "0.000876928" "02326" "CENPF_000006" "g.214819839G>A" "" "" "" "CENPF(NM_016343.3):c.6926G>A (p.R2309H), CENPF(NM_016343.4):c.6926G>A (p.R2309H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CENPF ## Count = 80 "{{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}}" "0000061096" "00004961" "90" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "12" "0000061097" "00004961" "90" "574" "-2" "574" "-2" "c.574-2A>C" "r.spl?" "p.?" "5i" "0000061098" "00004961" "90" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "12" "0000061099" "00004961" "90" "8692" "0" "8692" "0" "c.8692C>T" "r.(?)" "p.(Arg2898*)" "18" "0000061102" "00004961" "70" "4582" "0" "4582" "0" "c.4582T>C" "r.(?)" "p.(Cys1528Arg)" "12" "0000061103" "00004961" "70" "5378" "0" "5378" "0" "c.5378G>A" "r.(?)" "p.(Arg1793His)" "13" "0000061108" "00004961" "70" "6926" "0" "6926" "0" "c.6926G>A" "r.(?)" "p.(Arg2309His)" "13" "0000061109" "00004961" "70" "7904" "0" "7904" "0" "c.7904T>C" "r.(?)" "p.(Leu2635Pro)" "14" "0000084675" "00004961" "70" "2734" "0" "2734" "0" "c.2734G>T" "r.(?)" "p.(Glu912*)" "12" "0000084677" "00004961" "70" "171" "0" "199" "0" "c.171_199del" "r.(?)" "p.(Asn57Lysfs*11)" "3" "0000405882" "00004961" "90" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "12" "0000405883" "00004961" "90" "9280" "0" "9280" "0" "c.9280C>T" "r.(?)" "p.(Arg3094*)" "20" "0000405931" "00004961" "90" "1744" "0" "1744" "0" "c.1744G>T" "r.(?)" "p.(Glu582*)" "" "0000405932" "00004961" "90" "9280" "0" "9280" "0" "c.9280C>T" "r.(?)" "p.(Arg3094*)" "" "0000505125" "00004961" "50" "3143" "0" "3143" "0" "c.3143A>G" "r.(?)" "p.(Glu1048Gly)" "" "0000505128" "00004961" "50" "3811" "0" "3811" "0" "c.3811A>G" "r.(?)" "p.(Lys1271Glu)" "" "0000505131" "00004961" "30" "5378" "0" "5378" "0" "c.5378G>A" "r.(?)" "p.(Arg1793His)" "" "0000505133" "00004961" "50" "5704" "0" "5704" "0" "c.5704A>C" "r.(?)" "p.(Asn1902His)" "" "0000505135" "00004961" "50" "6440" "0" "6440" "0" "c.6440G>A" "r.(?)" "p.(Arg2147Gln)" "" "0000505137" "00004961" "30" "7217" "0" "7217" "0" "c.7217A>G" "r.(?)" "p.(Glu2406Gly)" "" "0000505138" "00004961" "50" "7524" "0" "7524" "0" "c.7524A>G" "r.(?)" "p.(Gln2508=)" "" "0000605139" "00004961" "30" "4582" "0" "4582" "0" "c.4582T>C" "r.(?)" "p.(Cys1528Arg)" "" "0000605140" "00004961" "90" "4999" "0" "4999" "0" "c.4999C>T" "r.(?)" "p.(Arg1667Ter)" "" "0000605141" "00004961" "50" "8391" "0" "8391" "0" "c.8391G>C" "r.(?)" "p.(Leu2797Phe)" "" "0000620494" "00004961" "30" "4182" "0" "4182" "0" "c.4182A>G" "r.(?)" "p.(Thr1394=)" "" "0000647540" "00004961" "10" "3623" "0" "3623" "0" "c.3623C>T" "r.(?)" "p.(Ala1208Val)" "" "0000653881" "00004961" "90" "3577" "0" "3577" "0" "c.3577C>T" "r.(?)" "p.(Gln1193Ter)" "" "0000666186" "00004961" "70" "3296" "0" "3296" "0" "c.3296del" "r.(?)" "p.(Leu1099Argfs*3)" "" "0000675628" "00004961" "50" "4719" "0" "4719" "0" "c.4719A>C" "r.(?)" "p.(Gln1573His)" "" "0000717131" "00004961" "50" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Leu322Pro)" "" "0000717132" "00004961" "50" "1259" "0" "1259" "0" "c.1259G>T" "r.(?)" "p.(Arg420Ile)" "" "0000717133" "00004961" "30" "2951" "0" "2951" "0" "c.2951C>T" "r.(?)" "p.(Ala984Val)" "" "0000717134" "00004961" "50" "3928" "0" "3928" "0" "c.3928C>G" "r.(?)" "p.(Leu1310Val)" "" "0000717135" "00004961" "50" "5999" "0" "5999" "0" "c.5999A>G" "r.(?)" "p.(His2000Arg)" "" "0000717136" "00004961" "50" "6926" "0" "6926" "0" "c.6926G>A" "r.(?)" "p.(Arg2309His)" "" "0000717137" "00004961" "50" "7326" "0" "7326" "0" "c.7326G>A" "r.(?)" "p.(Met2442Ile)" "" "0000717138" "00004961" "50" "8978" "0" "8978" "0" "c.8978C>T" "r.(?)" "p.(Pro2993Leu)" "" "0000799065" "00004961" "50" "1070" "0" "1070" "0" "c.1070A>G" "r.(?)" "p.(Tyr357Cys)" "" "0000799066" "00004961" "50" "2251" "0" "2251" "0" "c.2251C>T" "r.(?)" "p.(Arg751Trp)" "" "0000799067" "00004961" "50" "4348" "0" "4348" "0" "c.4348T>A" "r.(?)" "p.(Ser1450Thr)" "" "0000848511" "00004961" "30" "3013" "0" "3013" "0" "c.3013G>C" "r.(?)" "p.(Asp1005His)" "" "0000848512" "00004961" "30" "4182" "0" "4182" "0" "c.4182A>G" "r.(?)" "p.(Thr1394=)" "" "0000848513" "00004961" "10" "9081" "0" "9081" "0" "c.9081C>T" "r.(?)" "p.(Leu3027=)" "" "0000857261" "00004961" "30" "330" "0" "330" "0" "c.330A>G" "r.(?)" "p.(Gln110=)" "" "0000857262" "00004961" "30" "1451" "0" "1451" "0" "c.1451T>C" "r.(?)" "p.(Met484Thr)" "" "0000857263" "00004961" "50" "1457" "0" "1457" "0" "c.1457A>G" "r.(?)" "p.(Lys486Arg)" "" "0000857264" "00004961" "10" "3307" "0" "3307" "0" "c.3307T>C" "r.(?)" "p.(Leu1103=)" "" "0000857265" "00004961" "10" "3623" "0" "3623" "0" "c.3623C>T" "r.(?)" "p.(Ala1208Val)" "" "0000857266" "00004961" "30" "8736" "0" "8736" "0" "c.8736A>C" "r.(?)" "p.(Pro2912=)" "" "0000874417" "00004961" "50" "5814" "0" "5814" "0" "c.5814C>A" "r.(?)" "p.(Asp1938Glu)" "" "0000874418" "00004961" "50" "5814" "0" "5814" "0" "c.5814C>A" "r.(?)" "p.(Asp1938Glu)" "" "0000874419" "00004961" "50" "5814" "0" "5814" "0" "c.5814C>A" "r.(?)" "p.(Asp1938Glu)" "" "0000883101" "00004961" "30" "2111" "0" "2111" "0" "c.2111A>G" "r.(?)" "p.(Gln704Arg)" "" "0000883102" "00004961" "30" "3617" "0" "3617" "0" "c.3617A>G" "r.(?)" "p.(Tyr1206Cys)" "" "0000883103" "00004961" "30" "6969" "0" "6969" "0" "c.6969A>G" "r.(?)" "p.(Gln2323=)" "" "0000883104" "00004961" "30" "7506" "0" "7506" "0" "c.7506A>G" "r.(?)" "p.(Ser2502=)" "" "0000883105" "00004961" "30" "8963" "-9" "8963" "-9" "c.8963-9dup" "r.(=)" "p.(=)" "" "0000910928" "00004961" "30" "3369" "0" "3369" "0" "c.3369C>T" "r.(?)" "p.(Ser1123=)" "" "0000910929" "00004961" "30" "3974" "0" "3974" "0" "c.3974G>A" "r.(?)" "p.(Arg1325Lys)" "" "0000923066" "00004961" "50" "965" "0" "965" "0" "c.965T>C" "r.(?)" "p.(Leu322Pro)" "" "0000923067" "00004961" "50" "8083" "0" "8083" "0" "c.8083G>A" "r.(?)" "p.(Glu2695Lys)" "" "0000928103" "00004961" "90" "3774" "0" "3774" "0" "c.3774del" "r.(?)" "p.(Ser1259Valfs*8)" "" "0000947116" "00004961" "90" "1774" "0" "1777" "0" "c.1774_1777del" "r.(?)" "p.(Glu592Lysfs*7)" "" "0000960792" "00004961" "30" "8802" "0" "8802" "0" "c.8802A>G" "r.(?)" "p.(=)" "" "0000973616" "00004961" "50" "635" "0" "635" "0" "c.635C>A" "r.(?)" "p.(Ala212Asp)" "" "0000973617" "00004961" "50" "5520" "0" "5520" "0" "c.5520dup" "r.(?)" "p.(Asp1841Argfs*4)" "" "0000973618" "00004961" "50" "6532" "0" "6532" "0" "c.6532G>A" "r.(?)" "p.(Glu2178Lys)" "" "0000973619" "00004961" "50" "7314" "0" "7316" "0" "c.7314_7316dup" "r.(?)" "p.(Ala2439dup)" "" "0000973620" "00004961" "50" "8322" "1" "8322" "1" "c.8322+1G>T" "r.spl?" "p.?" "" "0000973621" "00004961" "30" "8736" "0" "8736" "0" "c.8736A>C" "r.(?)" "p.(Pro2912=)" "" "0000973622" "00004961" "50" "9187" "0" "9187" "0" "c.9187C>T" "r.(?)" "p.(Arg3063*)" "" "0000990817" "00004961" "50" "767" "0" "767" "0" "c.767G>A" "r.(?)" "p.(Arg256Gln)" "" "0000990818" "00004961" "30" "2053" "0" "2053" "0" "c.2053G>A" "r.(?)" "p.(Val685Met)" "" "0000990819" "00004961" "30" "4690" "0" "4690" "0" "c.4690G>A" "r.(?)" "p.(Glu1564Lys)" "" "0001013273" "00004961" "30" "3811" "0" "3811" "0" "c.3811A>G" "r.(?)" "p.(Lys1271Glu)" "" "0001024102" "00004961" "30" "426" "0" "426" "0" "c.426C>T" "r.(?)" "p.(=)" "" "0001024103" "00004961" "50" "8322" "1" "8322" "1" "c.8322+1G>T" "r.spl?" "p.?" "" "0001031646" "00004961" "30" "866" "-4" "866" "-4" "c.866-4C>T" "r.spl?" "p.?" "" "0001031647" "00004961" "50" "6391" "0" "6391" "0" "c.6391G>A" "r.(?)" "p.(Asp2131Asn)" "" "0001031648" "00004961" "30" "6926" "0" "6926" "0" "c.6926G>A" "r.(?)" "p.(Arg2309His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000034097" "0000061096" "0000034097" "0000061097" "0000034098" "0000061098" "0000034098" "0000061099" "0000034099" "0000061102" "0000034100" "0000061103" "0000034101" "0000061108" "0000034102" "0000061109" "0000054704" "0000084675" "0000054704" "0000084677" "0000182065" "0000405882" "0000182065" "0000405883" "0000182106" "0000405931" "0000182106" "0000405932" "0000290851" "0000647540" "0000302829" "0000666186" "0000416343" "0000874417" "0000416344" "0000874418" "0000416345" "0000874419"