### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ANKH) # 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}}" "ANKH" "ankylosis, progressive homolog (mouse)" "5" "p15.2" "unknown" "NG_008273.1" "UD_132118506183" "" "https://www.LOVD.nl/ANKH" "" "1" "15492" "56172" "605145" "1" "1" "1" "1" "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." "" "g" "https://databases.lovd.nl/shared/refseq/ANKH_codingDNA.html" "1" "" "" "-1" "" "-1" "00000" "2010-04-29 00:00:00" "00006" "2017-06-29 15:35:38" "00000" "2022-05-09 15:40:45" ## 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}}" "00000739" "ANKH" "ankylosis, progressive homolog (mouse)" "001" "NM_054027.4" "" "NP_473368.1" "" "" "" "-331" "7876" "1479" "14704909" "14871887" "00000" "2012-09-13 12:50:43" "" "" ## 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}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "01157" "CHTE" "Hypothyroidism, central, testicular enlargement (CHTE)" "XLR" "300888" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01250" "CCAL2" "chondrocalcinosis, type 2 (CCAL-2)" "AD" "118600" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01272" "CMDD" "dysplasia, craniometaphyseal, autosomal dominant (CMDD)" "AD" "123000" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "ANKH" "00139" "ANKH" "01250" "ANKH" "01272" ## Individuals ## Do not remove or alter this header ## ## Count = 17 "{{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" "" "" "" "" "00050565" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00117870" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117871" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117872" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117873" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117874" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117875" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117876" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117877" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117878" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117879" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117880" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "M" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117881" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117882" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00117883" "" "" "" "1" "" "02067" "{PMID:Morava 2011:20943778}" "" "F" "yes" "Turkey" "" "0" "" "" "Turkish" "" "00293773" "" "" "" "16" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 17 "{{individualid}}" "{{diseaseid}}" "00000208" "01157" "00050565" "00198" "00117870" "00198" "00117871" "00198" "00117872" "00000" "00117873" "00000" "00117874" "00198" "00117875" "00198" "00117876" "00000" "00117877" "00000" "00117878" "00000" "00117879" "00000" "00117880" "00000" "00117881" "00000" "00117882" "00198" "00117883" "00198" "00293773" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 01157, 01250, 01272 ## Count = 16 "{{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}}" "0000037177" "00198" "00050565" "00006" "Isolated (sporadic)" "" "cognitive impairment, restlessness, inappropriate behavior" "" "" "" "" "" "" "" "" "" "" "" "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" "" "" "" "" "" "" "" "" "" "0000093258" "00198" "00117870" "02067" "Familial, autosomal recessive" "" "MRDA syndrome; IQ64, sensineural hearing loss >50dB, conductive hearing loss, arthrosis/joint pain, short stature, hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093259" "00198" "00117871" "02067" "Familial, autosomal recessive" "" "MRDA syndrome; IQ56, conductive hearing loss, arthrosis/joint pain, no short stature, hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093260" "00000" "00117872" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093261" "00000" "00117873" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093262" "00198" "00117874" "02067" "Familial, autosomal recessive" "" "MRDA syndrome; IQ59, sensineural hearing loss >50dB, conductive hearing loss, stapes fixation, arthrosis/joint pain, teeth anomalies, short stature, hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093263" "00198" "00117875" "02067" "Familial, autosomal recessive" "" "MRDA syndrome; IQ61, sensineural hearing loss, conductive hearing loss >50dB, stapes fixation, arthrosis/joint pain, teeth anomalies, short stature, hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093264" "00000" "00117876" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature," "" "" "" "" "" "" "" "" "" "" "" "0000093265" "00000" "00117877" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093266" "00000" "00117878" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093267" "00000" "00117879" "02067" "Familial, autosomal recessive" "" "no MR, delayed speech development, congenital sensineural hearing loss, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093268" "00000" "00117880" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093269" "00000" "00117881" "02067" "Familial, autosomal recessive" "" "no MR, no stapes fixation, no arthrosis/joint pain, no teeth anomalies, no short stature, no hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093270" "00198" "00117882" "02067" "Familial, autosomal recessive" "" "MRDA syndrome; IQ66, sensineural hearing loss >50dB, conductive hearing loss >50dB, stapes fixation, no arthrosis/joint pain, teeth anomalies, no short stature, hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" "0000093271" "00198" "00117883" "02067" "Familial, autosomal recessive" "" "MRDA syndrome; IQ65, sensineural hearing loss >50dB, conductive hearing loss, stapes fixation, teeth anomalies, growth curve follows 2SD, hypophosphatemia" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 17 "{{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" "" "" "0000050510" "00050565" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000118333" "00117870" "1" "02067" "02067" "2012-01-31 17:19:39" "00006" "2012-02-03 15:53:36" "SEQ" "DNA" "" "" "0000118334" "00117871" "1" "02067" "02067" "2012-02-03 15:51:30" "00006" "2012-02-03 15:53:36" "SEQ" "DNA" "" "" "0000118335" "00117872" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118336" "00117873" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118337" "00117874" "1" "02067" "02067" "2012-02-03 15:51:30" "00006" "2012-02-03 15:53:36" "SEQ" "DNA" "" "" "0000118338" "00117875" "1" "02067" "02067" "2012-02-03 15:51:30" "00006" "2012-02-03 15:53:36" "SEQ" "DNA" "" "" "0000118339" "00117876" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118340" "00117877" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118341" "00117878" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118342" "00117879" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118343" "00117880" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118344" "00117881" "1" "02067" "02067" "2012-02-03 15:51:30" "" "" "SEQ" "DNA" "" "" "0000118345" "00117882" "1" "02067" "02067" "2012-02-03 15:51:30" "00006" "2012-02-03 15:53:36" "SEQ" "DNA" "" "" "0000118346" "00117883" "1" "02067" "02067" "2012-02-03 15:51:30" "00006" "2012-02-03 15:53:36" "SEQ" "DNA" "" "" "0000294941" "00293773" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000050510" "GSPT2" "0000118333" "ANKH" "0000118334" "ANKH" "0000118335" "ANKH" "0000118336" "ANKH" "0000118337" "ANKH" "0000118338" "ANKH" "0000118339" "ANKH" "0000118340" "ANKH" "0000118341" "ANKH" "0000118342" "ANKH" "0000118343" "ANKH" "0000118344" "ANKH" "0000118345" "ANKH" "0000118346" "ANKH" ## 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 = 39 "{{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}}" "0000004086" "3" "50" "5" "14798587" "14798587" "subst" "0" "00037" "ANKH_000003" "g.14798587G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14798478G>A" "" "VUS" "" "0000004087" "3" "50" "5" "14798595" "14798595" "subst" "0" "00037" "ANKH_000002" "g.14798595T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.14798486T>C" "" "VUS" "" "0000079490" "0" "90" "5" "10973413" "15937446" "del" "0" "00006" "CTNND2_000002" "g.10973413_15937446del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "" "" "pathogenic" "" "0000194429" "3" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194430" "3" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194431" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194432" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194433" "3" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194434" "3" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194435" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194436" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194437" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194438" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194439" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194440" "1" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194441" "3" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000194442" "3" "90" "5" "14749372" "14749372" "subst" "0" "02067" "ANKH_000001" "g.14749372A>G" "" "{PMID:Morava 2011:20943778}" "" "" "" "Germline" "" "" "0" "" "" "g.14749263A>G" "" "pathogenic" "" "0000249593" "0" "70" "5" "14716941" "14716941" "subst" "0" "02325" "ANKH_000006" "g.14716941A>G" "" "" "" "ANKH(NM_054027.4):c.1015T>C (p.(Cys339Arg)), ANKH(NM_054027.6):c.1015T>C (p.C339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14716832A>G" "" "likely pathogenic" "" "0000259083" "0" "10" "5" "14769103" "14769103" "subst" "0.16148" "02325" "ANKH_000010" "g.14769103G>A" "" "" "" "ANKH(NM_054027.6):c.294C>T (p.A98=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14768994G>A" "" "benign" "" "0000259477" "0" "30" "5" "14769075" "14769075" "subst" "0.00000409423" "02325" "ANKH_000009" "g.14769075C>G" "" "" "" "ANKH(NM_054027.6):c.313+9G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14768966C>G" "" "likely benign" "" "0000330291" "0" "50" "5" "14713088" "14713088" "subst" "0.000620644" "01804" "ANKH_000004" "g.14713088G>A" "" "" "" "ANKH(NM_054027.4):c.1266-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14712979G>A" "" "VUS" "" "0000330292" "0" "50" "5" "14713681" "14713681" "subst" "0.00155642" "01804" "ANKH_000005" "g.14713681C>T" "" "" "" "ANKH(NM_054027.4):c.1237G>A (p.(Ala413Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14713572C>T" "" "VUS" "" "0000330293" "0" "50" "5" "14716941" "14716941" "subst" "0" "01804" "ANKH_000006" "g.14716941A>G" "" "" "" "ANKH(NM_054027.4):c.1015T>C (p.(Cys339Arg)), ANKH(NM_054027.6):c.1015T>C (p.C339R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14716832A>G" "" "VUS" "" "0000330294" "0" "50" "5" "14751210" "14751210" "subst" "0.00000406058" "01804" "ANKH_000007" "g.14751210T>C" "" "" "" "ANKH(NM_054027.4):c.655A>G (p.(Ile219Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14751101T>C" "" "VUS" "" "0000330296" "0" "50" "5" "14871532" "14871532" "subst" "0.0000122738" "01804" "ANKH_000011" "g.14871532G>A" "" "" "" "ANKH(NM_054027.4):c.25C>T (p.(His9Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14871423G>A" "" "VUS" "" "0000348518" "0" "90" "5" "14871543" "14871543" "subst" "0" "02327" "ANKH_000012" "g.14871543G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.14871434G>A" "" "pathogenic" "" "0000524687" "0" "10" "5" "14711275" "14711275" "subst" "0.0672828" "02327" "ANKH_000013" "g.14711275T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14711166T>C" "" "benign" "" "0000524688" "0" "30" "5" "14711295" "14711295" "subst" "0.00139304" "02327" "ANKH_000014" "g.14711295C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14711186C>T" "" "likely benign" "" "0000524689" "0" "90" "5" "14713746" "14713746" "subst" "0" "02327" "ANKH_000015" "g.14713746A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14713637A>G" "" "pathogenic" "" "0000524690" "0" "90" "5" "14716829" "14716831" "del" "0" "02327" "ANKH_000016" "g.14716829_14716831del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14716720_14716722del" "" "pathogenic" "" "0000524691" "0" "90" "5" "14716832" "14716834" "del" "0" "02327" "ANKH_000017" "g.14716832_14716834del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14716723_14716725del" "" "pathogenic" "" "0000524703" "0" "10" "5" "14741921" "14741921" "subst" "0.150602" "02327" "ANKH_000018" "g.14741921A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14741812A>C" "" "benign" "" "0000524704" "0" "50" "5" "14741965" "14741965" "subst" "0" "02325" "ANKH_000019" "g.14741965T>C" "" "" "" "ANKH(NM_054027.6):c.982A>G (p.T328A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14741856T>C" "" "VUS" "" "0000524705" "0" "50" "5" "14741980" "14741980" "subst" "0.00000406121" "01804" "ANKH_000020" "g.14741980G>T" "" "" "" "ANKH(NM_054027.4):c.967C>A (p.(His323Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14741871G>T" "" "VUS" "" "0000524741" "0" "50" "5" "14756053" "14756053" "subst" "0.00000812698" "01804" "ANKH_000021" "g.14756053C>A" "" "" "" "ANKH(NM_054027.4):c.433G>T (p.(Ala145Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14755944C>A" "" "VUS" "" "0000524774" "0" "50" "5" "14871560" "14871560" "subst" "0.0543847" "02327" "ANKH_000022" "g.14871560C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.14871451C>T" "" "VUS" "" "0000651630" "1" "30" "5" "14710726" "14710726" "subst" "0" "03575" "ANKH_000023" "g.14710726G>A" "16/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "16 heterozygous, no homozygous; {DB:CLININrs192753009}" "Germline" "" "rs192753009" "0" "" "" "g.14710617G>A" "" "likely benign" "" "0000801950" "0" "50" "5" "14711387" "14711387" "dup" "0" "02325" "ANKH_000024" "g.14711387dup" "" "" "" "ANKH(NM_054027.6):c.1402dupG (p.E468Gfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850823" "0" "50" "5" "14749354" "14749354" "subst" "0" "02325" "ANKH_000025" "g.14749354G>A" "" "" "" "ANKH(NM_054027.6):c.749C>T (p.T250I)" "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 ANKH ## Count = 39 "{{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}}" "0000004086" "00000739" "50" "97" "-29287" "97" "-29287" "c.97-29287C>T" "r.(=)" "p.(=)" "" "0000004087" "00000739" "50" "97" "-29295" "97" "-29295" "c.97-29295A>G" "r.(=)" "p.(=)" "" "0000079490" "00000739" "00" "-1065890" "0" "3739372" "0" "c.-1065890_*3737893del" "r.0?" "p.0?" "" "0000194429" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194430" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194431" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194432" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194433" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194434" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194435" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194436" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194437" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194438" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194439" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194440" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194441" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000194442" "00000739" "90" "731" "0" "731" "0" "c.731T>C" "r.(?)" "p.(Leu244Ser)" "6" "0000249593" "00000739" "70" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Cys339Arg)" "" "0000259083" "00000739" "10" "294" "0" "294" "0" "c.294C>T" "r.(?)" "p.(Ala98=)" "" "0000259477" "00000739" "30" "313" "9" "313" "9" "c.313+9G>C" "r.(=)" "p.(=)" "" "0000330291" "00000739" "50" "1266" "-6" "1266" "-6" "c.1266-6C>T" "r.(=)" "p.(=)" "" "0000330292" "00000739" "50" "1237" "0" "1237" "0" "c.1237G>A" "r.(?)" "p.(Ala413Thr)" "" "0000330293" "00000739" "50" "1015" "0" "1015" "0" "c.1015T>C" "r.(?)" "p.(Cys339Arg)" "" "0000330294" "00000739" "50" "655" "0" "655" "0" "c.655A>G" "r.(?)" "p.(Ile219Val)" "" "0000330296" "00000739" "50" "25" "0" "25" "0" "c.25C>T" "r.(?)" "p.(His9Tyr)" "" "0000348518" "00000739" "90" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Pro5Leu)" "" "0000524687" "00000739" "10" "1510" "0" "1510" "0" "c.*31A>G" "r.(=)" "p.(=)" "" "0000524688" "00000739" "30" "1490" "0" "1490" "0" "c.*11G>A" "r.(=)" "p.(=)" "" "0000524689" "00000739" "90" "1172" "0" "1172" "0" "c.1172T>C" "r.(?)" "p.(Leu391Pro)" "" "0000524690" "00000739" "90" "1129" "0" "1131" "0" "c.1129_1131del" "r.(?)" "p.(Phe377del)" "" "0000524691" "00000739" "90" "1124" "0" "1126" "0" "c.1124_1126del" "r.(?)" "p.(Ser375del)" "" "0000524703" "00000739" "10" "1011" "15" "1011" "15" "c.1011+15T>G" "r.(=)" "p.(=)" "" "0000524704" "00000739" "50" "982" "0" "982" "0" "c.982A>G" "r.(?)" "p.(Thr328Ala)" "" "0000524705" "00000739" "50" "967" "0" "967" "0" "c.967C>A" "r.(?)" "p.(His323Asn)" "" "0000524741" "00000739" "50" "433" "0" "433" "0" "c.433G>T" "r.(?)" "p.(Ala145Ser)" "" "0000524774" "00000739" "50" "-4" "0" "-4" "0" "c.-4G>A" "r.(?)" "p.(=)" "" "0000651630" "00000739" "30" "2059" "0" "2059" "0" "c.*580C>T" "r.(=)" "p.(=)" "" "0000801950" "00000739" "50" "1402" "0" "1402" "0" "c.1402dup" "r.(?)" "p.(Glu468Glyfs*25)" "" "0000850823" "00000739" "50" "749" "0" "749" "0" "c.749C>T" "r.(?)" "p.(Thr250Ile)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 18 "{{screeningid}}" "{{variantid}}" "0000000209" "0000004086" "0000000209" "0000004087" "0000050510" "0000079490" "0000118333" "0000194429" "0000118334" "0000194430" "0000118335" "0000194431" "0000118336" "0000194432" "0000118337" "0000194433" "0000118338" "0000194434" "0000118339" "0000194435" "0000118340" "0000194436" "0000118341" "0000194437" "0000118342" "0000194438" "0000118343" "0000194439" "0000118344" "0000194440" "0000118345" "0000194441" "0000118346" "0000194442" "0000294941" "0000651630"