### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF644) # 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}}" "ZNF644" "zinc finger protein 644" "1" "p22.2" "unknown" "NG_029760.1" "UD_134713739187" "" "https://www.LOVD.nl/ZNF644" "" "1" "29222" "84146" "614159" "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/ZNF644_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-07-14 00:00:00" "00006" "2020-04-24 14:41:14" "00000" "2025-02-07 18:57:27" ## 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}}" "00024293" "ZNF644" "transcript variant 1" "002" "NM_201269.2" "" "NP_958357.1" "" "" "" "-283" "5484" "3984" "91487812" "91380855" "00006" "2017-07-06 08:21:44" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "03569" "MYP21" "myopia, type 21, autosomal dominant (MYP-21)" "AD" "614167" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05323" "MYP" "myopia (MYP)" "" "" "" "" "" "00006" "2017-09-01 15:07:55" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "ZNF644" "03569" "ZNF644" "05323" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00117509" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS007" "M" "" "" "" "0" "" "" "" "" "00117510" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS103" "F" "" "" "" "0" "" "" "" "" "00117511" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS104" "M" "" "" "" "0" "" "" "" "" "00117512" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS078" "F" "" "" "" "0" "" "" "" "" "00117513" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS131" "M" "" "" "" "0" "" "" "" "" "00117514" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "Family 951" "F" "" "" "" "0" "" "" "" "" "00117515" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "Family 951" "F" "" "" "" "0" "" "" "" "" "00117516" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "Family 951" "M" "" "" "" "0" "" "" "" "" "00117517" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "Family 951" "F" "" "" "" "0" "" "" "" "" "00117518" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "Family 951" "M" "" "" "" "0" "" "" "" "" "00117519" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "Family 951" "F" "" "" "" "0" "" "" "" "" "00117520" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS010" "M" "" "" "" "0" "" "" "" "" "00117521" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS064" "F" "" "" "" "0" "" "" "" "" "00117522" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS080" "F" "" "" "" "0" "" "" "" "" "00117523" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS075" "M" "" "" "" "0" "" "" "" "" "00117524" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS027" "F" "" "" "" "0" "" "" "" "" "00117525" "" "" "" "1" "" "00006" "{PMID:Shi 2011:21695231}" "family JS047" "M" "" "" "" "0" "" "" "" "" "00300241" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "China" "" "0" "" "" "" "HM601" "00300242" "" "" "" "1" "" "00006" "{PMID:Liu 2020:32215939}" "" "M" "" "China" "" "0" "" "" "" "HM657" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00117509" "03569" "00117510" "03569" "00117511" "03569" "00117512" "03569" "00117513" "03569" "00117514" "03569" "00117515" "03569" "00117516" "03569" "00117517" "03569" "00117518" "03569" "00117519" "03569" "00117520" "03569" "00117521" "03569" "00117522" "03569" "00117523" "03569" "00117524" "03569" "00117525" "03569" "00300241" "05323" "00300242" "05323" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 03569, 05323 ## Count = 19 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000092979" "03569" "00117509" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092980" "03569" "00117510" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092981" "03569" "00117511" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092982" "03569" "00117512" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092983" "03569" "00117513" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092984" "03569" "00117514" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092985" "03569" "00117515" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092986" "03569" "00117516" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092987" "03569" "00117517" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092988" "03569" "00117518" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092989" "03569" "00117519" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092990" "03569" "00117520" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092991" "03569" "00117521" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092992" "03569" "00117522" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092993" "03569" "00117523" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092994" "03569" "00117524" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000092995" "03569" "00117525" "00006" "Familial, autosomal dominant" "" "see paper; …, high myopia" "" "" "" "" "" "" "" "" "" "0000227543" "05323" "00300241" "00006" "Familial, autosomal dominant" "61y" "refraction spherical equivalent OD –11.00, OS –13.00" "5y" "" "" "" "" "" "" "MYP21" "myopia" "0000227544" "05323" "00300242" "00006" "Familial, autosomal dominant" "50y" "onset early childhood; refraction spherical equivalent OD –16.50, OS –16.00" "" "" "" "" "" "" "" "MYP21" "myopia" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000117972" "00117509" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117973" "00117510" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117974" "00117511" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117975" "00117512" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117976" "00117513" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117977" "00117514" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117978" "00117515" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117979" "00117516" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117980" "00117517" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117981" "00117518" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117982" "00117519" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117983" "00117520" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117984" "00117521" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117985" "00117522" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117986" "00117523" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117987" "00117524" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000117988" "00117525" "1" "00006" "00002" "2011-07-14 16:21:46" "" "" "SEQ" "DNA" "" "" "0000301358" "00300241" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000301359" "00300242" "1" "00006" "00006" "2020-04-24 14:46:37" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{geneid}}" "0000117972" "ZNF644" "0000117973" "ZNF644" "0000117974" "ZNF644" "0000117975" "ZNF644" "0000117976" "ZNF644" "0000117977" "ZNF644" "0000117978" "ZNF644" "0000117979" "ZNF644" "0000117980" "ZNF644" "0000117981" "ZNF644" "0000117982" "ZNF644" "0000117983" "ZNF644" "0000117984" "ZNF644" "0000117985" "ZNF644" "0000117986" "ZNF644" "0000117987" "ZNF644" "0000117988" "ZNF644" "0000301358" "ZNF644" "0000301359" "ZNF644" ## 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 = 51 "{{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}}" "0000193937" "1" "70" "1" "91405152" "91405152" "subst" "2.03361E-5" "00006" "ZNF644_000001" "g.91405152T>C" "" "" "" "2091A>G; I587V" "" "Germline" "" "" "0" "" "" "g.90939595T>C" "" "likely pathogenic" "" "0000193938" "1" "70" "1" "91405152" "91405152" "subst" "2.03361E-5" "00006" "ZNF644_000001" "g.91405152T>C" "" "" "" "2091A>G; I587V" "" "Germline" "" "" "0" "" "" "g.90939595T>C" "" "likely pathogenic" "" "0000193939" "1" "70" "1" "91405152" "91405152" "subst" "2.03361E-5" "00006" "ZNF644_000001" "g.91405152T>C" "" "" "" "2091A>G; I587V" "" "Germline" "" "" "0" "" "" "g.90939595T>C" "" "likely pathogenic" "" "0000193940" "1" "70" "1" "91405152" "91405152" "subst" "2.03361E-5" "00006" "ZNF644_000001" "g.91405152T>C" "" "" "" "2091A>G; I587V" "" "Germline" "" "" "0" "" "" "g.90939595T>C" "" "likely pathogenic" "" "0000193941" "1" "70" "1" "91405152" "91405152" "subst" "2.03361E-5" "00006" "ZNF644_000001" "g.91405152T>C" "" "" "" "2091A>G; I587V" "" "Germline" "" "" "0" "" "" "g.90939595T>C" "" "likely pathogenic" "" "0000193942" "1" "70" "1" "91404897" "91404897" "subst" "4.07063E-6" "00006" "ZNF644_000006" "g.91404897T>C" "" "" "" "2156A>G;S672G" "" "Germline" "" "" "0" "" "" "g.90939340T>C" "" "likely pathogenic" "" "0000193943" "1" "70" "1" "91404897" "91404897" "subst" "4.07063E-6" "00006" "ZNF644_000006" "g.91404897T>C" "" "" "" "2156A>G;S672G" "" "Germline" "" "" "0" "" "" "g.90939340T>C" "" "likely pathogenic" "" "0000193944" "1" "70" "1" "91404897" "91404897" "subst" "4.07063E-6" "00006" "ZNF644_000006" "g.91404897T>C" "" "" "" "2156A>G;S672G" "" "Germline" "" "" "0" "" "" "g.90939340T>C" "" "likely pathogenic" "" "0000193945" "1" "70" "1" "91404897" "91404897" "subst" "4.07063E-6" "00006" "ZNF644_000006" "g.91404897T>C" "" "" "" "2156A>G;S672G" "" "Germline" "" "" "0" "" "" "g.90939340T>C" "" "likely pathogenic" "" "0000193946" "1" "70" "1" "91404897" "91404897" "subst" "4.07063E-6" "00006" "ZNF644_000006" "g.91404897T>C" "" "" "" "2156A>G;S672G" "" "Germline" "" "" "0" "" "" "g.90939340T>C" "" "likely pathogenic" "" "0000193947" "1" "70" "1" "91404897" "91404897" "subst" "4.07063E-6" "00006" "ZNF644_000006" "g.91404897T>C" "" "" "" "2156A>G;S672G" "" "Germline" "" "" "0" "" "" "g.90939340T>C" "" "likely pathogenic" "" "0000193948" "1" "70" "1" "91404873" "91404873" "subst" "0" "00006" "ZNF644_000002" "g.91404873G>C" "" "" "" "2180C>G; R680G" "" "Germline" "" "" "0" "" "" "g.90939316G>C" "" "likely pathogenic" "" "0000193949" "1" "70" "1" "91404815" "91404815" "subst" "0" "00006" "ZNF644_000003" "g.91404815C>T" "" "" "" "2238G>A; C699Y" "" "Germline" "" "" "0" "" "" "g.90939258C>T" "" "likely pathogenic" "" "0000193950" "1" "70" "1" "91404815" "91404815" "subst" "0" "00006" "ZNF644_000003" "g.91404815C>T" "" "" "" "2238G>A; C699Y" "" "Germline" "" "" "0" "" "" "g.90939258C>T" "" "likely pathogenic" "" "0000193951" "1" "70" "1" "91382343" "91382343" "subst" "1.6252E-5" "00006" "ZNF644_000004" "g.91382343G>C" "" "" "" "4138C>G; 3\'UTR+12C>G" "" "Germline" "" "" "0" "" "" "g.90916786G>C" "" "likely pathogenic" "" "0000193952" "1" "70" "1" "91381763" "91381763" "subst" "0" "00006" "ZNF644_000005" "g.91381763C>T" "" "" "" "41718G>A; 3\'UTR+592G>A" "" "Germline" "" "" "0" "" "" "g.90916206C>T" "" "likely pathogenic" "" "0000193953" "1" "70" "1" "91381763" "91381763" "subst" "0" "00006" "ZNF644_000005" "g.91381763C>T" "" "" "" "41718G>A; 3\'UTR+592G>A" "" "Germline" "" "" "0" "" "" "g.90916206C>T" "" "likely pathogenic" "" "0000256210" "0" "50" "1" "91403290" "91403290" "subst" "0.00101776" "01943" "ZNF644_000008" "g.91403290A>G" "" "" "" "ZNF644(NM_201269.2):c.3440T>C (p.L1147P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90937733A>G" "" "VUS" "" "0000320321" "0" "30" "1" "91405681" "91405681" "subst" "3.65949E-5" "01943" "ZNF644_000011" "g.91405681G>A" "" "" "" "ZNF644(NM_201269.2):c.1230C>T (p.Y410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90940124G>A" "" "likely benign" "" "0000320322" "0" "50" "1" "91405217" "91405217" "subst" "0.000110167" "01943" "ZNF644_000010" "g.91405217T>C" "" "" "" "ZNF644(NM_201269.2):c.1694A>G (p.K565R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90939660T>C" "" "VUS" "" "0000320323" "0" "30" "1" "91403431" "91403431" "subst" "0.00277744" "01943" "ZNF644_000009" "g.91403431C>T" "" "" "" "ZNF644(NM_201269.2):c.3299G>A (p.R1100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90937874C>T" "" "likely benign" "" "0000320324" "0" "50" "1" "91382477" "91382477" "subst" "0.000154346" "01943" "ZNF644_000007" "g.91382477T>C" "" "" "" "ZNF644(NM_201269.2):c.3862A>G (p.I1288V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90916920T>C" "" "VUS" "" "0000343259" "0" "50" "1" "91404863" "91404863" "subst" "0.000154529" "02327" "ZNF644_000013" "g.91404863C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90939306C>G" "" "VUS" "" "0000344482" "0" "50" "1" "91403880" "91403880" "subst" "0" "02327" "ZNF644_000012" "g.91403880G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90938323G>C" "" "VUS" "" "0000346568" "0" "30" "1" "91382477" "91382477" "subst" "0.000154346" "02327" "ZNF644_000007" "g.91382477T>C" "" "" "" "ZNF644(NM_201269.2):c.3862A>G (p.I1288V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90916920T>C" "" "likely benign" "" "0000348154" "0" "50" "1" "91406556" "91406556" "subst" "3.66587E-5" "02327" "ZNF644_000014" "g.91406556G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.90940999G>C" "" "VUS" "" "0000508538" "0" "30" "1" "91403851" "91403851" "subst" "2.8452E-5" "01943" "ZNF644_000015" "g.91403851T>C" "" "" "" "ZNF644(NM_201269.2):c.3060A>G (p.T1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90938294T>C" "" "likely benign" "" "0000508539" "0" "30" "1" "91404792" "91404792" "subst" "0.00366646" "01943" "ZNF644_000016" "g.91404792T>C" "" "" "" "ZNF644(NM_201269.2):c.2119A>G (p.K707E), ZNF644(NM_201269.3):c.2119A>G (p.K707E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90939235T>C" "" "likely benign" "" "0000508540" "0" "50" "1" "91406186" "91406186" "subst" "0.000756356" "01943" "ZNF644_000017" "g.91406186G>A" "" "" "" "ZNF644(NM_201269.2):c.725C>T (p.T242M), ZNF644(NM_201269.3):c.725C>T (p.T242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90940629G>A" "" "VUS" "" "0000508541" "0" "30" "1" "91406272" "91406272" "subst" "0.00139068" "01943" "ZNF644_000018" "g.91406272C>T" "" "" "" "ZNF644(NM_201269.2):c.639G>A (p.K213=), ZNF644(NM_201269.3):c.639G>A (p.K213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90940715C>T" "" "likely benign" "" "0000508542" "0" "30" "1" "91406374" "91406374" "subst" "0.000464385" "01943" "ZNF644_000019" "g.91406374T>C" "" "" "" "ZNF644(NM_201269.2):c.537A>G (p.S179=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90940817T>C" "" "likely benign" "" "0000508543" "0" "50" "1" "91406804" "91406804" "subst" "0" "01943" "ZNF644_000020" "g.91406804G>C" "" "" "" "ZNF644(NM_201269.2):c.107C>G (p.T36S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90941247G>C" "" "VUS" "" "0000508544" "0" "50" "1" "91406804" "91406804" "subst" "0" "02327" "ZNF644_000020" "g.91406804G>C" "" "" "" "ZNF644(NM_201269.2):c.107C>G (p.T36S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90941247G>C" "" "VUS" "" "0000605991" "0" "30" "1" "91406110" "91406110" "subst" "0.0026489" "01943" "ZNF644_000021" "g.91406110T>C" "" "" "" "ZNF644(NM_201269.2):c.801A>G (p.Q267=), ZNF644(NM_201269.3):c.801A>G (p.Q267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.90940553T>C" "" "likely benign" "" "0000664277" "1" "70" "1" "91403464" "91403464" "subst" "0.000231968" "00006" "ZNF644_000022" "g.91403464T>C" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.90937907T>C" "" "pathogenic (dominant)" "" "0000664278" "1" "70" "1" "91405998" "91405998" "subst" "0.000720831" "00006" "ZNF644_000023" "g.91405998C>T" "" "{PMID:Liu 2020:32215939}" "" "" "" "Germline" "" "" "0" "" "" "g.90940441C>T" "" "pathogenic (dominant)" "" "0000675950" "0" "30" "1" "91405078" "91405078" "subst" "8.53867E-5" "01943" "ZNF644_000024" "g.91405078T>G" "" "" "" "ZNF644(NM_201269.2):c.1833A>C (p.S611=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688257" "0" "50" "1" "91404020" "91404020" "subst" "2.852E-5" "01943" "ZNF644_000025" "g.91404020G>A" "" "" "" "ZNF644(NM_201269.2):c.2891C>T (p.S964L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000688258" "0" "50" "1" "91405640" "91405640" "subst" "0" "01943" "ZNF644_000026" "g.91405640T>G" "" "" "" "ZNF644(NM_201269.2):c.1271A>C (p.H424P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000799551" "0" "30" "1" "91403535" "91403535" "subst" "2.45345E-5" "01943" "ZNF644_000027" "g.91403535T>C" "" "" "" "ZNF644(NM_201269.2):c.3195A>G (p.G1065=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857625" "0" "30" "1" "91405567" "91405567" "subst" "0" "01943" "ZNF644_000028" "g.91405567A>G" "" "" "" "ZNF644(NM_201269.2):c.1344T>C (p.Y448=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000857626" "0" "30" "1" "91406734" "91406734" "subst" "0.00130416" "01943" "ZNF644_000029" "g.91406734T>C" "" "" "" "ZNF644(NM_201269.2):c.177A>G (p.P59=), ZNF644(NM_201269.3):c.177A>G (p.P59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911147" "0" "30" "1" "91406110" "91406110" "subst" "0.0026489" "02330" "ZNF644_000021" "g.91406110T>C" "" "" "" "ZNF644(NM_201269.2):c.801A>G (p.Q267=), ZNF644(NM_201269.3):c.801A>G (p.Q267=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911148" "0" "50" "1" "91406407" "91406407" "subst" "0" "02327" "ZNF644_000030" "g.91406407T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947311" "0" "30" "1" "91403367" "91403367" "subst" "2.44371E-5" "02330" "ZNF644_000031" "g.91403367A>G" "" "" "" "ZNF644(NM_201269.3):c.3363T>C (p.N1121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947312" "0" "30" "1" "91404792" "91404792" "subst" "0.00366646" "02330" "ZNF644_000016" "g.91404792T>C" "" "" "" "ZNF644(NM_201269.2):c.2119A>G (p.K707E), ZNF644(NM_201269.3):c.2119A>G (p.K707E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947313" "0" "30" "1" "91406734" "91406734" "subst" "0.00130416" "02330" "ZNF644_000029" "g.91406734T>C" "" "" "" "ZNF644(NM_201269.2):c.177A>G (p.P59=), ZNF644(NM_201269.3):c.177A>G (p.P59=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961184" "0" "30" "1" "91382406" "91382406" "subst" "0.000186851" "02330" "ZNF644_000032" "g.91382406G>A" "" "" "" "ZNF644(NM_201269.3):c.3933C>T (p.A1311=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961185" "0" "30" "1" "91406186" "91406186" "subst" "0.000756356" "02330" "ZNF644_000017" "g.91406186G>A" "" "" "" "ZNF644(NM_201269.2):c.725C>T (p.T242M), ZNF644(NM_201269.3):c.725C>T (p.T242M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000961186" "0" "30" "1" "91406272" "91406272" "subst" "0.00139068" "02330" "ZNF644_000018" "g.91406272C>T" "" "" "" "ZNF644(NM_201269.2):c.639G>A (p.K213=), ZNF644(NM_201269.3):c.639G>A (p.K213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013351" "0" "30" "1" "91406656" "91406656" "subst" "8.14618E-5" "02330" "ZNF644_000033" "g.91406656G>A" "" "" "" "ZNF644(NM_201269.3):c.255C>T (p.N85=)" "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 ZNF644 ## Count = 51 "{{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}}" "0000193937" "00024293" "70" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "3" "0000193938" "00024293" "70" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "3" "0000193939" "00024293" "70" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "3" "0000193940" "00024293" "70" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "3" "0000193941" "00024293" "70" "1759" "0" "1759" "0" "c.1759A>G" "r.(?)" "p.(Ile587Val)" "3" "0000193942" "00024293" "70" "2014" "0" "2014" "0" "c.2014A>G" "r.(?)" "p.(Ser672Gly)" "3" "0000193943" "00024293" "70" "2014" "0" "2014" "0" "c.2014A>G" "r.(?)" "p.(Ser672Gly)" "3" "0000193944" "00024293" "70" "2014" "0" "2014" "0" "c.2014A>G" "r.(?)" "p.(Ser672Gly)" "3" "0000193945" "00024293" "70" "2014" "0" "2014" "0" "c.2014A>G" "r.(?)" "p.(Ser672Gly)" "3" "0000193946" "00024293" "70" "2014" "0" "2014" "0" "c.2014A>G" "r.(?)" "p.(Ser672Gly)" "3" "0000193947" "00024293" "70" "2014" "0" "2014" "0" "c.2014A>G" "r.(?)" "p.(Ser672Gly)" "3" "0000193948" "00024293" "70" "2038" "0" "2038" "0" "c.2038C>G" "r.(?)" "p.(Arg680Gly)" "3" "0000193949" "00024293" "70" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Cys699Tyr)" "3" "0000193950" "00024293" "70" "2096" "0" "2096" "0" "c.2096G>A" "r.(?)" "p.(Cys699Tyr)" "3" "0000193951" "00024293" "70" "3996" "0" "3996" "0" "c.*12C>G" "r.(?)" "p.(=)" "6" "0000193952" "00024293" "70" "4576" "0" "4576" "0" "c.*592G>A" "r.(?)" "p.(=)" "6" "0000193953" "00024293" "70" "4576" "0" "4576" "0" "c.*592G>A" "r.(?)" "p.(=)" "6" "0000256210" "00024293" "50" "3440" "0" "3440" "0" "c.3440T>C" "r.(?)" "p.(Leu1147Pro)" "" "0000320321" "00024293" "30" "1230" "0" "1230" "0" "c.1230C>T" "r.(?)" "p.(Tyr410=)" "" "0000320322" "00024293" "50" "1694" "0" "1694" "0" "c.1694A>G" "r.(?)" "p.(Lys565Arg)" "" "0000320323" "00024293" "30" "3299" "0" "3299" "0" "c.3299G>A" "r.(?)" "p.(Arg1100His)" "" "0000320324" "00024293" "50" "3862" "0" "3862" "0" "c.3862A>G" "r.(?)" "p.(Ile1288Val)" "" "0000343259" "00024293" "50" "2048" "0" "2048" "0" "c.2048G>C" "r.(?)" "p.(Arg683Thr)" "" "0000344482" "00024293" "50" "3031" "0" "3031" "0" "c.3031C>G" "r.(?)" "p.(Gln1011Glu)" "" "0000346568" "00024293" "30" "3862" "0" "3862" "0" "c.3862A>G" "r.(?)" "p.(Ile1288Val)" "" "0000348154" "00024293" "50" "355" "0" "355" "0" "c.355C>G" "r.(?)" "p.(Pro119Ala)" "" "0000508538" "00024293" "30" "3060" "0" "3060" "0" "c.3060A>G" "r.(?)" "p.(Thr1020=)" "" "0000508539" "00024293" "30" "2119" "0" "2119" "0" "c.2119A>G" "r.(?)" "p.(Lys707Glu)" "" "0000508540" "00024293" "50" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "0000508541" "00024293" "30" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(Lys213=)" "" "0000508542" "00024293" "30" "537" "0" "537" "0" "c.537A>G" "r.(?)" "p.(Ser179=)" "" "0000508543" "00024293" "50" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Thr36Ser)" "" "0000508544" "00024293" "50" "107" "0" "107" "0" "c.107C>G" "r.(?)" "p.(Thr36Ser)" "" "0000605991" "00024293" "30" "801" "0" "801" "0" "c.801A>G" "r.(?)" "p.(Gln267=)" "" "0000664277" "00024293" "70" "3266" "0" "3266" "0" "c.3266A>G" "r.(?)" "p.(Tyr1089Cys)" "" "0000664278" "00024293" "70" "913" "0" "913" "0" "c.913G>A" "r.(?)" "p.(Glu305Lys)" "" "0000675950" "00024293" "30" "1833" "0" "1833" "0" "c.1833A>C" "r.(?)" "p.(Ser611=)" "" "0000688257" "00024293" "50" "2891" "0" "2891" "0" "c.2891C>T" "r.(?)" "p.(Ser964Leu)" "" "0000688258" "00024293" "50" "1271" "0" "1271" "0" "c.1271A>C" "r.(?)" "p.(His424Pro)" "" "0000799551" "00024293" "30" "3195" "0" "3195" "0" "c.3195A>G" "r.(?)" "p.(Gly1065=)" "" "0000857625" "00024293" "30" "1344" "0" "1344" "0" "c.1344T>C" "r.(?)" "p.(Tyr448=)" "" "0000857626" "00024293" "30" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(Pro59=)" "" "0000911147" "00024293" "30" "801" "0" "801" "0" "c.801A>G" "r.(?)" "p.(Gln267=)" "" "0000911148" "00024293" "50" "504" "0" "504" "0" "c.504A>T" "r.(?)" "p.(Lys168Asn)" "" "0000947311" "00024293" "30" "3363" "0" "3363" "0" "c.3363T>C" "r.(?)" "p.(=)" "" "0000947312" "00024293" "30" "2119" "0" "2119" "0" "c.2119A>G" "r.(?)" "p.(Lys707Glu)" "" "0000947313" "00024293" "30" "177" "0" "177" "0" "c.177A>G" "r.(?)" "p.(Pro59=)" "" "0000961184" "00024293" "30" "3933" "0" "3933" "0" "c.3933C>T" "r.(?)" "p.(=)" "" "0000961185" "00024293" "30" "725" "0" "725" "0" "c.725C>T" "r.(?)" "p.(Thr242Met)" "" "0000961186" "00024293" "30" "639" "0" "639" "0" "c.639G>A" "r.(?)" "p.(Lys213=)" "" "0001013351" "00024293" "30" "255" "0" "255" "0" "c.255C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000117972" "0000193937" "0000117973" "0000193938" "0000117974" "0000193939" "0000117975" "0000193940" "0000117976" "0000193941" "0000117977" "0000193942" "0000117978" "0000193943" "0000117979" "0000193944" "0000117980" "0000193945" "0000117981" "0000193946" "0000117982" "0000193947" "0000117983" "0000193948" "0000117984" "0000193949" "0000117985" "0000193950" "0000117986" "0000193951" "0000117987" "0000193952" "0000117988" "0000193953" "0000301358" "0000664277" "0000301359" "0000664278"