### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = ZNF423)
# 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}}"
"ZNF423" "zinc finger protein 423" "16" "q12" "unknown" "NG_032972.2" "UD_132586020232" "" "https://www.LOVD.nl/ZNF423" "" "1" "16762" "23090" "604557" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/ZNF423_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2013-02-11 00:00:00" "00006" "2020-11-26 19:37:52" "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}}"
"00025585" "ZNF423" "transcript variant 1" "004" "NM_015069.3" "" "NP_055884.2" "" "" "" "-53" "4526" "3855" "49856649" "49524515" "00006" "2020-11-26 19:39:56" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"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" "2024-11-23 09:38:12"
"00995" "NPHP14;JBTS19" "nephronophthisis, type 14 (NPHP-14, Joubert syndrome 19 (JBTS-19))" "AD;AR" "614844" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
"04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26"
"06892" "NPHP" "nephronophthisis" "" "" "" "" "" "00006" "2022-01-23 12:29:57" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"ZNF423" "00995"
## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{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}}"
"00019896" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" ""
"00144156" "" "" "" "1" "" "01780" "{PMID:Katagiri 2014:25268133}" "index patient" "F" "no" "Japan" "" "0" "" "" "Japanese" ""
"00150185" "" "" "" "2" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB5590"
"00291474" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291475" "" "" "" "241" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00291476" "" "" "" "241" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304514" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304515" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00375414" "" "" "" "1" "" "00000" "{PMID:Katagiri 2014:25268133}" "family" "" "" "Japan" "" "0" "" "" "" "RP#006"
"00399832" "" "" "" "1" "" "00006" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "" "" "China" "" "0" "" "" "" "369"
"00414440" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP107"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}" "{{diseaseid}}"
"00019896" "00139"
"00144156" "04214"
"00150185" "00198"
"00291474" "00198"
"00291475" "00198"
"00291476" "00198"
"00304514" "00198"
"00304515" "00198"
"00375414" "04214"
"00399832" "06892"
"00414440" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00995, 04214, 06892
## Count = 5
"{{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}}"
"0000020350" "00139" "00019896" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000116934" "04214" "00144156" "01780" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000122587" "00198" "00150185" "00006" "Familial" "" "Macrocephaly, extended subarachnoid spaces, thin corpus callosum, hypopigmented fundus" "" "" "" "" "" "" "" "" "" "" ""
"0000270628" "04214" "00375414" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "retinitis pigmentosa" ""
"0000306275" "00198" "00414440" "00000" "Familial, autosomal recessive" "5y" "" "" "" "" "" "" "" "" "" "Nephronophthisis 14" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000019889" "00019896" "1" "00705" "00705" "2014-09-15 11:42:47" "00006" "2014-11-08 10:07:05" "SEQ" "DNA" "" ""
"0000145015" "00144156" "1" "01780" "00006" "2017-11-28 22:45:32" "" "" "SEQ-NG-I" "DNA" "" ""
"0000151040" "00150185" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES"
"0000292642" "00291474" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292643" "00291475" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000292644" "00291476" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305643" "00304514" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305644" "00304515" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000376611" "00375414" "1" "00000" "00006" "2021-06-04 09:36:04" "" "" "SEQ-NG" "DNA" "" "WES"
"0000401075" "00399832" "1" "00006" "00006" "2022-01-23 12:37:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000415720" "00414440" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}" "{{geneid}}"
"0000019889" "APPL2"
"0000019889" "SMAD6"
"0000019889" "ZNF423"
"0000145015" "EYS"
"0000151040" "ZNF423"
"0000415720" "ZNF423"
## 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 = 135
"{{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}}"
"0000040363" "0" "30" "16" "49670125" "49670125" "subst" "0" "00705" "ZNF423_000001" "g.49670125T>C" "" "{PMID:Gilissen 2014:24896178}" "" "" "" "De novo" "" "" "0" "" "" "g.49636214T>C" "" "likely benign" ""
"0000244204" "1" "90" "16" "49669693" "49669693" "subst" "3.2943E-5" "00006" "ZNF423_000002" "g.49669693C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_015069: c.G3370A; p.E1124K" "" "Germline" "" "" "0" "" "" "g.49635782C>T" "" "pathogenic" ""
"0000244205" "2" "90" "16" "49764693" "49764693" "subst" "5.688E-5" "00006" "ZNF423_000003" "g.49764693C>T" "" "{PMID:Karaca 2015:26539891}" "" "NM_015069: c.G266A; p.R89H" "" "Germline" "" "" "0" "" "" "g.49730782C>T" "" "pathogenic" ""
"0000248684" "0" "10" "16" "49672520" "49672520" "subst" "0.47182" "02325" "ZNF423_000020" "g.49672520A>G" "" "" "" "ZNF423(NM_001271620.2):c.363T>C (p.R121=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638609A>G" "" "benign" ""
"0000256494" "0" "50" "16" "49671919" "49671919" "subst" "0.000801197" "01943" "ZNF423_000018" "g.49671919A>G" "" "" "" "ZNF423(NM_001271620.2):c.964T>C (p.S322P), ZNF423(NM_001379286.1):c.1168T>C (p.(Ser390Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638008A>G" "" "VUS" ""
"0000311456" "0" "10" "16" "49823385" "49823385" "subst" "0.00104357" "02330" "ZNF423_000026" "g.49823385C>T" "" "" "" "ZNF423(NM_001271620.2):c.-105+13G>A, ZNF423(NM_015069.4):c.76+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49789474C>T" "" "benign" ""
"0000311457" "0" "10" "16" "49672775" "49672775" "subst" "0.00385849" "02330" "ZNF423_000023" "g.49672775G>A" "" "" "" "ZNF423(NM_001271620.2):c.108C>T (p.D36=), ZNF423(NM_015069.4):c.288C>T (p.D96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638864G>A" "" "benign" ""
"0000311458" "0" "10" "16" "49856587" "49856587" "subst" "9.82632E-5" "02330" "ZNF423_000029" "g.49856587T>C" "" "" "" "ZNF423(NM_001271620.1):c.-164-33130A>G (p.(=)), ZNF423(NM_015069.4):c.10A>G (p.K4E), ZNF423(NM_015069.5):c.10A>G (p.K4E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49822676T>C" "" "benign" ""
"0000311459" "0" "10" "16" "49671740" "49671740" "subst" "0" "02330" "ZNF423_000015" "g.49671740G>A" "" "" "" "ZNF423(NM_001271620.2):c.1143C>T (p.H381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637829G>A" "" "benign" ""
"0000311460" "0" "10" "16" "49671722" "49671722" "subst" "0.000706685" "02330" "ZNF423_000014" "g.49671722C>G" "" "" "" "ZNF423(NM_001271620.2):c.1161G>C (p.L387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637811C>G" "" "benign" ""
"0000311461" "0" "30" "16" "49671074" "49671074" "subst" "0.00198906" "02330" "ZNF423_000011" "g.49671074C>T" "" "" "" "ZNF423(NM_001271620.2):c.1809G>A (p.A603=), ZNF423(NM_015069.4):c.1989G>A (p.A663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637163C>T" "" "likely benign" ""
"0000311462" "0" "30" "16" "49670999" "49670999" "subst" "8.13901E-6" "02330" "ZNF423_000010" "g.49670999C>T" "" "" "" "ZNF423(NM_001271620.2):c.1884G>A (p.T628=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637088C>T" "" "likely benign" ""
"0000311463" "0" "10" "16" "49670759" "49670759" "subst" "0.000975332" "02330" "ZNF423_000009" "g.49670759G>A" "" "" "" "ZNF423(NM_001271620.2):c.2124C>T (p.H708=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49636848G>A" "" "benign" ""
"0000311464" "0" "10" "16" "49672634" "49672634" "subst" "0.000731208" "02330" "ZNF423_000021" "g.49672634G>A" "" "" "" "ZNF423(NM_001271620.2):c.249C>T (p.C83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638723G>A" "" "benign" ""
"0000311465" "0" "10" "16" "49670026" "49670026" "subst" "0.00119048" "02330" "ZNF423_000008" "g.49670026G>A" "" "" "" "ZNF423(NM_001271620.2):c.2857C>T (p.L953=), ZNF423(NM_015069.4):c.3037C>T (p.L1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49636115G>A" "" "benign" ""
"0000311466" "0" "50" "16" "49764751" "49764751" "subst" "1.21823E-5" "02330" "ZNF423_000025" "g.49764751C>T" "" "" "" "ZNF423(NM_001271620.2):c.28G>A (p.D10N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49730840C>T" "" "VUS" ""
"0000311467" "0" "10" "16" "49669861" "49669861" "subst" "0.000944582" "02330" "ZNF423_000007" "g.49669861G>T" "" "" "" "ZNF423(NM_001271620.2):c.3022C>A (p.L1008M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49635950G>T" "" "benign" ""
"0000311468" "0" "10" "16" "49669796" "49669796" "subst" "0.00410744" "02330" "ZNF423_000006" "g.49669796G>A" "" "" "" "ZNF423(NM_001271620.2):c.3087C>T (p.Y1029=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49635885G>A" "" "benign" ""
"0000311469" "0" "10" "16" "49669787" "49669787" "subst" "0.00047464" "02330" "ZNF423_000005" "g.49669787G>A" "" "" "" "ZNF423(NM_001271620.2):c.3096C>T (p.C1032=), ZNF423(NM_015069.4):c.3276C>T (p.C1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49635876G>A" "" "benign" ""
"0000311470" "0" "10" "16" "49672376" "49672376" "subst" "0.00213323" "02330" "ZNF423_000019" "g.49672376G>A" "" "" "" "ZNF423(NM_001271620.2):c.507C>T (p.R169=), ZNF423(NM_015069.4):c.687C>T (p.R229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638465G>A" "" "benign" ""
"0000311471" "0" "50" "16" "49671895" "49671895" "subst" "3.25492E-5" "02330" "ZNF423_000017" "g.49671895G>A" "" "" "" "ZNF423(NM_001271620.2):c.988C>T (p.P330S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637984G>A" "" "VUS" ""
"0000315547" "0" "10" "16" "49671101" "49671101" "subst" "0.00505367" "02326" "ZNF423_000012" "g.49671101G>A" "" "" "" "ZNF423(NM_001271620.2):c.1782C>T (p.H594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637190G>A" "" "benign" ""
"0000315548" "0" "10" "16" "49671177" "49671177" "subst" "0.0310632" "02326" "ZNF423_000013" "g.49671177T>C" "" "" "" "ZNF423(NM_015069.4):c.1886A>G (p.N629S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637266T>C" "" "benign" ""
"0000315549" "0" "10" "16" "49823390" "49823390" "subst" "0.000274838" "02326" "ZNF423_000027" "g.49823390G>A" "" "" "" "ZNF423(NM_001271620.2):c.-105+8C>T, ZNF423(NM_015069.4):c.76+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49789479G>A" "" "benign" ""
"0000315550" "0" "10" "16" "49672834" "49672834" "subst" "0.0256392" "02326" "ZNF423_000024" "g.49672834G>A" "" "" "" "ZNF423(NM_001271620.2):c.98-49C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638923G>A" "" "benign" ""
"0000320261" "0" "30" "16" "49671761" "49671761" "subst" "0.00049161" "01943" "ZNF423_000016" "g.49671761C>T" "" "" "" "ZNF423(NM_001271620.2):c.1122G>A (p.A374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49637850C>T" "" "likely benign" ""
"0000320262" "0" "50" "16" "49672770" "49672770" "subst" "0.000270243" "01943" "ZNF423_000022" "g.49672770G>C" "" "" "" "ZNF423(NM_001271620.2):c.113C>G (p.P38R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638859G>C" "" "VUS" ""
"0000320263" "0" "50" "16" "49856586" "49856586" "subst" "0" "01943" "ZNF423_000028" "g.49856586T>G" "" "" "" "ZNF423(NM_015069.4):c.11A>C (p.K4T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49822675T>G" "" "VUS" ""
"0000320264" "0" "30" "16" "49669787" "49669787" "subst" "0.00047464" "01943" "ZNF423_000005" "g.49669787G>A" "" "" "" "ZNF423(NM_001271620.2):c.3096C>T (p.C1032=), ZNF423(NM_015069.4):c.3276C>T (p.C1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49635876G>A" "" "likely benign" ""
"0000320265" "0" "30" "16" "49669694" "49669694" "subst" "0.00253634" "01943" "ZNF423_000004" "g.49669694G>A" "" "" "" "ZNF423(NM_001271620.2):c.3189C>T (p.P1063=), ZNF423(NM_015069.4):c.3369C>T (p.P1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49635783G>A" "" "likely benign" ""
"0000320266" "0" "30" "16" "49672376" "49672376" "subst" "0.00213323" "01943" "ZNF423_000019" "g.49672376G>A" "" "" "" "ZNF423(NM_001271620.2):c.507C>T (p.R169=), ZNF423(NM_015069.4):c.687C>T (p.R229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49638465G>A" "" "likely benign" ""
"0000558301" "0" "30" "16" "49669557" "49669557" "subst" "0.000425374" "02330" "ZNF423_000030" "g.49669557T>C" "" "" "" "ZNF423(NM_001271620.2):c.3312+14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49635646T>C" "" "likely benign" ""
"0000558302" "0" "10" "16" "49669694" "49669694" "subst" "0.00253634" "02330" "ZNF423_000004" "g.49669694G>A" "" "" "" "ZNF423(NM_001271620.2):c.3189C>T (p.P1063=), ZNF423(NM_015069.4):c.3369C>T (p.P1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49635783G>A" "" "benign" ""
"0000558303" "0" "30" "16" "49669726" "49669726" "subst" "0.0131013" "01943" "ZNF423_000031" "g.49669726C>T" "" "" "" "ZNF423(NM_001271620.2):c.3157G>A (p.A1053T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49635815C>T" "" "likely benign" ""
"0000558304" "0" "10" "16" "49669726" "49669726" "subst" "0.0131013" "02326" "ZNF423_000031" "g.49669726C>T" "" "" "" "ZNF423(NM_001271620.2):c.3157G>A (p.A1053T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49635815C>T" "" "benign" ""
"0000558305" "0" "50" "16" "49669842" "49669842" "subst" "3.10793E-5" "02330" "ZNF423_000032" "g.49669842C>T" "" "" "" "ZNF423(NM_001271620.2):c.3041G>A (p.R1014H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49635931C>T" "" "VUS" ""
"0000558306" "0" "10" "16" "49669922" "49669922" "subst" "0.000189774" "02330" "ZNF423_000033" "g.49669922C>T" "" "" "" "ZNF423(NM_001271620.2):c.2961G>A (p.A987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636011C>T" "" "benign" ""
"0000558307" "0" "30" "16" "49669922" "49669922" "subst" "0.000189774" "01943" "ZNF423_000033" "g.49669922C>T" "" "" "" "ZNF423(NM_001271620.2):c.2961G>A (p.A987=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636011C>T" "" "likely benign" ""
"0000558308" "0" "50" "16" "49670325" "49670325" "subst" "0.000158653" "01943" "ZNF423_000034" "g.49670325G>A" "" "" "" "ZNF423(NM_001271620.2):c.2558C>T (p.P853L), ZNF423(NM_001379286.1):c.2762C>T (p.(Pro921Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636414G>A" "" "VUS" ""
"0000558309" "0" "50" "16" "49670447" "49670447" "subst" "5.2812E-5" "02330" "ZNF423_000035" "g.49670447A>G" "" "" "" "ZNF423(NM_001271620.2):c.2436T>C (p.H812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636536A>G" "" "VUS" ""
"0000558310" "0" "10" "16" "49670687" "49670687" "subst" "0.000195104" "02330" "ZNF423_000036" "g.49670687G>A" "" "" "" "ZNF423(NM_001271620.2):c.2196C>T (p.T732=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636776G>A" "" "benign" ""
"0000558311" "0" "30" "16" "49670954" "49670954" "subst" "0.00219095" "01943" "ZNF423_000037" "g.49670954C>T" "" "" "" "ZNF423(NM_001271620.2):c.1929G>A (p.S643=), ZNF423(NM_001379286.1):c.2133G>A (p.S711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637043C>T" "" "likely benign" ""
"0000558312" "0" "30" "16" "49671239" "49671239" "subst" "0.000125905" "01943" "ZNF423_000038" "g.49671239G>A" "" "" "" "ZNF423(NM_001271620.2):c.1644C>T (p.S548=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637328G>A" "" "likely benign" ""
"0000558313" "0" "30" "16" "49671435" "49671435" "subst" "4.06157E-5" "01943" "ZNF423_000039" "g.49671435A>G" "" "" "" "ZNF423(NM_001271620.2):c.1448T>C (p.V483A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637524A>G" "" "likely benign" ""
"0000558314" "0" "50" "16" "49671504" "49671504" "subst" "2.03176E-5" "02330" "ZNF423_000040" "g.49671504T>C" "" "" "" "ZNF423(NM_001271620.2):c.1379A>G (p.N460S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637593T>C" "" "VUS" ""
"0000558315" "0" "50" "16" "49671592" "49671592" "subst" "0" "01943" "ZNF423_000041" "g.49671592C>A" "" "" "" "ZNF423(NM_001271620.2):c.1291G>T (p.D431Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637681C>A" "" "VUS" ""
"0000558316" "0" "50" "16" "49671685" "49671685" "subst" "0.000280294" "02330" "ZNF423_000042" "g.49671685C>T" "" "" "" "ZNF423(NM_001271620.2):c.1198G>A (p.V400I), ZNF423(NM_001379286.1):c.1402G>A (p.(Val468Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637774C>T" "" "VUS" ""
"0000558317" "0" "30" "16" "49671722" "49671722" "subst" "0.000706685" "01943" "ZNF423_000014" "g.49671722C>G" "" "" "" "ZNF423(NM_001271620.2):c.1161G>C (p.L387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637811C>G" "" "likely benign" ""
"0000558318" "0" "30" "16" "49671761" "49671761" "subst" "0.00049161" "02330" "ZNF423_000016" "g.49671761C>T" "" "" "" "ZNF423(NM_001271620.2):c.1122G>A (p.A374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637850C>T" "" "likely benign" ""
"0000558319" "0" "30" "16" "49672302" "49672302" "subst" "2.85714E-5" "01943" "ZNF423_000043" "g.49672302G>A" "" "" "" "ZNF423(NM_001271620.2):c.581C>T (p.S194L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49638391G>A" "" "likely benign" ""
"0000558320" "0" "30" "16" "49672375" "49672375" "subst" "2.85532E-5" "02330" "ZNF423_000044" "g.49672375C>T" "" "" "" "ZNF423(NM_001271620.2):c.508G>A (p.G170S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49638464C>T" "" "likely benign" ""
"0000558321" "0" "30" "16" "49672634" "49672634" "subst" "0.000731208" "01943" "ZNF423_000021" "g.49672634G>A" "" "" "" "ZNF423(NM_001271620.2):c.249C>T (p.C83=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49638723G>A" "" "likely benign" ""
"0000558322" "0" "30" "16" "49764774" "49764774" "subst" "4.06062E-6" "01943" "ZNF423_000045" "g.49764774T>G" "" "" "" "ZNF423(NM_001271620.2):c.5A>C (p.E2A), ZNF423(NM_001379286.1):c.209A>C (p.(Glu70Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49730863T>G" "" "likely benign" ""
"0000616012" "0" "30" "16" "49559421" "49559421" "subst" "0.000915349" "02330" "ZNF423_000046" "g.49559421G>A" "" "" "" "ZNF423(NM_001271620.2):c.3398-16C>T, ZNF423(NM_015069.4):c.3578-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49525510G>A" "" "likely benign" ""
"0000616013" "0" "50" "16" "49670305" "49670305" "subst" "5.69703E-5" "01943" "ZNF423_000048" "g.49670305G>A" "" "" "" "ZNF423(NM_001271620.2):c.2578C>T (p.R860C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636394G>A" "" "VUS" ""
"0000616014" "0" "30" "16" "49670954" "49670954" "subst" "0.00219095" "02330" "ZNF423_000037" "g.49670954C>T" "" "" "" "ZNF423(NM_001271620.2):c.1929G>A (p.S643=), ZNF423(NM_001379286.1):c.2133G>A (p.S711=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637043C>T" "" "likely benign" ""
"0000616015" "0" "30" "16" "49671938" "49671938" "subst" "3.25797E-5" "02330" "ZNF423_000052" "g.49671938G>A" "" "" "" "ZNF423(NM_001271620.2):c.945C>T (p.S315=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49638027G>A" "" "likely benign" ""
"0000616016" "0" "50" "16" "49672261" "49672261" "subst" "0" "01943" "ZNF423_000053" "g.49672261A>C" "" "" "" "ZNF423(NM_001271620.2):c.622T>G (p.C208G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49638350A>C" "" "VUS" ""
"0000623472" "0" "30" "16" "49670144" "49670144" "subst" "4.50005E-5" "01943" "ZNF423_000047" "g.49670144C>T" "" "" "" "ZNF423(NM_001271620.2):c.2739G>A (p.T913=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636233C>T" "" "likely benign" ""
"0000623473" "0" "50" "16" "49670329" "49670329" "subst" "8.13471E-6" "01943" "ZNF423_000049" "g.49670329G>A" "" "" "" "ZNF423(NM_001271620.2):c.2554C>T (p.R852W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49636418G>A" "" "VUS" ""
"0000623474" "0" "50" "16" "49670955" "49670955" "subst" "7.3169E-5" "01943" "ZNF423_000050" "g.49670955G>A" "" "" "" "ZNF423(NM_001271620.2):c.1928C>T (p.S643L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637044G>A" "" "VUS" ""
"0000623475" "0" "30" "16" "49671335" "49671335" "subst" "0" "01943" "ZNF423_000051" "g.49671335G>A" "" "" "" "ZNF423(NM_001271620.2):c.1548C>T (p.S516=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49637424G>A" "" "likely benign" ""
"0000623476" "0" "30" "16" "49823389" "49823389" "subst" "0" "02330" "ZNF423_000054" "g.49823389G>C" "" "" "" "ZNF423(NM_001271620.2):c.-105+9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49789478G>C" "" "likely benign" ""
"0000623477" "0" "30" "16" "49823468" "49823469" "del" "0" "01943" "ZNF423_000055" "g.49823468_49823469del" "" "" "" "ZNF423(NM_001271620.2):c.-164-7_-164-6delCT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49789557_49789558del" "" "likely benign" ""
"0000649331" "1" "10" "16" "49669907" "49669907" "subst" "0.00111242" "03575" "ZNF423_000056" "g.49669907C>T" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 heterozygous, no homozygous; {DB:CLININrs117592972}" "Germline" "" "rs117592972" "0" "" "" "g.49635996C>T" "" "benign" ""
"0000649332" "1" "10" "16" "49671177" "49671177" "subst" "0.0310632" "03575" "ZNF423_000013" "g.49671177T>C" "241/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "241 heterozygous; {DB:CLININrs34214571}" "Germline" "" "rs34214571" "0" "" "" "g.49637266T>C" "" "benign" ""
"0000649333" "1" "10" "16" "49671218" "49671218" "subst" "0.0312482" "03575" "ZNF423_000057" "g.49671218C>T" "241/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "241 heterozygous; {DB:CLININrs16947741}" "Germline" "" "rs16947741" "0" "" "" "g.49637307C>T" "" "benign" ""
"0000657858" "0" "30" "16" "49669865" "49669865" "subst" "1.73064E-5" "01943" "ZNF423_000058" "g.49669865G>A" "" "" "" "ZNF423(NM_001271620.2):c.3018C>T (p.C1006=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49635954G>A" "" "likely benign" ""
"0000669331" "3" "10" "16" "49671177" "49671177" "subst" "0.0310632" "03575" "ZNF423_000013" "g.49671177T>C" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs34214571}" "Germline" "" "rs34214571" "0" "" "" "g.49637266T>C" "" "benign" ""
"0000669332" "3" "10" "16" "49671218" "49671218" "subst" "0.0312482" "03575" "ZNF423_000057" "g.49671218C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs16947741}" "Germline" "" "rs16947741" "0" "" "" "g.49637307C>T" "" "benign" ""
"0000680587" "0" "50" "16" "49670211" "49670211" "subst" "0.000310394" "01943" "ZNF423_000059" "g.49670211G>A" "" "" "" "ZNF423(NM_001271620.2):c.2672C>T (p.T891M), ZNF423(NM_001379286.1):c.2876C>T (p.(Thr959Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000680588" "0" "30" "16" "49670556" "49670556" "subst" "0.000345773" "01943" "ZNF423_000060" "g.49670556G>A" "" "" "" "ZNF423(NM_001271620.2):c.2327C>T (p.A776V), ZNF423(NM_001379286.1):c.2531C>T (p.A844V, p.(Ala844Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000692079" "0" "50" "16" "49671509" "49671509" "subst" "0" "01943" "ZNF423_000061" "g.49671509G>C" "" "" "" "ZNF423(NM_001271620.2):c.1374C>G (p.F458L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692080" "0" "30" "16" "49672409" "49672409" "subst" "4.07551E-6" "01943" "ZNF423_000062" "g.49672409G>A" "" "" "" "ZNF423(NM_001271620.2):c.474C>T (p.S158=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725811" "0" "30" "16" "49669694" "49669694" "subst" "0.00253634" "02326" "ZNF423_000004" "g.49669694G>A" "" "" "" "ZNF423(NM_001271620.2):c.3189C>T (p.P1063=), ZNF423(NM_015069.4):c.3369C>T (p.P1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725812" "0" "30" "16" "49671074" "49671074" "subst" "1.22278E-5" "01943" "ZNF423_000063" "g.49671074C>A" "" "" "" "ZNF423(NM_001271620.2):c.1809G>T (p.A603=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725813" "0" "50" "16" "49671081" "49671081" "subst" "0.000472343" "01943" "ZNF423_000064" "g.49671081T>G" "" "" "" "ZNF423(NM_001271620.2):c.1802A>C (p.K601T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725814" "0" "50" "16" "49671681" "49671681" "subst" "2.03146E-5" "01943" "ZNF423_000065" "g.49671681C>T" "" "" "" "ZNF423(NM_001271620.2):c.1202G>A (p.R401H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000725815" "0" "30" "16" "49671762" "49671762" "subst" "0.000170643" "01943" "ZNF423_000066" "g.49671762G>A" "" "" "" "ZNF423(NM_001271620.2):c.1121C>T (p.A374V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725816" "0" "30" "16" "49672775" "49672775" "subst" "0.00385849" "02326" "ZNF423_000023" "g.49672775G>A" "" "" "" "ZNF423(NM_001271620.2):c.108C>T (p.D36=), ZNF423(NM_015069.4):c.288C>T (p.D96=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725817" "0" "30" "16" "49823411" "49823411" "subst" "0.00053577" "02326" "ZNF423_000067" "g.49823411G>A" "" "" "" "ZNF423(NM_015069.4):c.63C>T (p.S21=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000725818" "0" "50" "16" "49856587" "49856587" "subst" "9.82632E-5" "01943" "ZNF423_000029" "g.49856587T>C" "" "" "" "ZNF423(NM_001271620.1):c.-164-33130A>G (p.(=)), ZNF423(NM_015069.4):c.10A>G (p.K4E), ZNF423(NM_015069.5):c.10A>G (p.K4E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000788326" "0" "50" "16" "49672108" "49672108" "subst" "9.10913E-5" "00000" "ZNF423_000068" "g.49672108C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G955A" "" "Germline" "" "" "0" "" "" "g.49638197C>T" "" "VUS" ""
"0000788390" "0" "50" "16" "49672108" "49672108" "subst" "9.10913E-5" "00000" "ZNF423_000068" "g.49672108C>T" "" "{PMID:Katagiri 2014:25268133}" "" "G955A" "" "Germline" "" "rs199919703" "0" "" "" "g.49638197C>T" "" "VUS" ""
"0000807424" "0" "10" "16" "49660183" "49660183" "subst" "0.00176347" "02330" "ZNF423_000071" "g.49660183A>G" "" "" "" "ZNF423(NM_001271620.2):c.3313-18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000807425" "0" "50" "16" "49669908" "49669908" "subst" "1.254E-5" "01943" "ZNF423_000072" "g.49669908G>A" "" "" "" "ZNF423(NM_001271620.2):c.2975C>T (p.A992V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000807426" "0" "50" "16" "49670185" "49670185" "subst" "0" "01943" "ZNF423_000073" "g.49670185T>C" "" "" "" "ZNF423(NM_001271620.2):c.2698A>G (p.M900V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000807427" "0" "30" "16" "49671104" "49671104" "subst" "2.84845E-5" "02330" "ZNF423_000074" "g.49671104C>T" "" "" "" "ZNF423(NM_001271620.2):c.1779G>A (p.L593=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000807428" "0" "50" "16" "49671793" "49671793" "subst" "7.31327E-5" "01943" "ZNF423_000075" "g.49671793C>T" "" "" "" "ZNF423(NM_001271620.2):c.1090G>A (p.V364M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000834118" "3" "50" "16" "49672004" "49672004" "subst" "4.08087E-6" "00006" "ZNF423_000076" "g.49672004G>T" "" "{PMID:Tang 2022:33323469}, {DOI:Tang 2022:10.1136/jmedgenet-2020-107184}" "" "c.1059(exon5)C>A" "" "Germline" "" "rs201095265" "0" "" "" "g.49638093G>T" "" "VUS" "ACMG"
"0000854525" "0" "30" "16" "49559421" "49559421" "subst" "0.000915349" "02326" "ZNF423_000046" "g.49559421G>A" "" "" "" "ZNF423(NM_001271620.2):c.3398-16C>T, ZNF423(NM_015069.4):c.3578-16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854526" "0" "30" "16" "49669583" "49669583" "subst" "7.13457E-5" "01943" "ZNF423_000077" "g.49669583C>T" "" "" "" "ZNF423(NM_001271620.2):c.3300G>A (p.S1100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854527" "0" "30" "16" "49669907" "49669907" "subst" "0.00111242" "02326" "ZNF423_000056" "g.49669907C>T" "" "" "" "ZNF423(NM_015069.4):c.3156G>A (p.A1052=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854528" "0" "30" "16" "49670546" "49670546" "subst" "0.000309189" "02326" "ZNF423_000078" "g.49670546G>A" "" "" "" "ZNF423(NM_015069.4):c.2517C>T (p.N839=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854529" "0" "30" "16" "49671432" "49671432" "subst" "0.000349341" "02326" "ZNF423_000079" "g.49671432C>A" "" "" "" "ZNF423(NM_015069.4):c.1631G>T (p.G544V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000854530" "0" "50" "16" "49671834" "49671834" "subst" "4.87559E-5" "01943" "ZNF423_000080" "g.49671834C>T" "" "" "" "ZNF423(NM_001271620.2):c.1049G>A (p.S350N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000854531" "0" "30" "16" "49823390" "49823390" "subst" "0.000274838" "01943" "ZNF423_000027" "g.49823390G>A" "" "" "" "ZNF423(NM_001271620.2):c.-105+8C>T, ZNF423(NM_015069.4):c.76+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000864820" "0" "30" "16" "49671956" "49671956" "subst" "0.000656671" "02326" "ZNF423_000081" "g.49671956G>A" "" "" "" "ZNF423(NM_001271620.2):c.927C>T (p.S309=), ZNF423(NM_015069.4):c.1107C>T (p.S369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000864821" "0" "30" "16" "49856587" "49856587" "subst" "9.82632E-5" "01804" "ZNF423_000029" "g.49856587T>C" "" "" "" "ZNF423(NM_001271620.1):c.-164-33130A>G (p.(=)), ZNF423(NM_015069.4):c.10A>G (p.K4E), ZNF423(NM_015069.5):c.10A>G (p.K4E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000873592" "0" "70" "16" "49671262" "49671262" "subst" "0" "00000" "ZNF423_000082" "g.49671262C>T" "207" "{PMID:Sun 2018:30076350}" "" "ZNF423(NM_015069.2):c.1801G>A (p.A601T)/c.1537G>A(p.G513S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49637351C>T" "" "likely pathogenic" ""
"0000873593" "0" "70" "16" "49671526" "49671526" "subst" "0.000235753" "00000" "ZNF423_000083" "g.49671526C>T" "207" "{PMID:Sun 2018:30076350}" "" "ZNF423(NM_015069.2):c.1801G>A (p.A601T)/c.1537G>A(p.G513S)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.49637615C>T" "" "likely pathogenic" ""
"0000893016" "0" "30" "16" "49557526" "49557526" "subst" "0" "02330" "ZNF423_000084" "g.49557526G>T" "" "" "" "ZNF423(NM_001271620.2):c.3645+9C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893017" "0" "30" "16" "49669787" "49669787" "subst" "0.00047464" "02326" "ZNF423_000005" "g.49669787G>A" "" "" "" "ZNF423(NM_001271620.2):c.3096C>T (p.C1032=), ZNF423(NM_015069.4):c.3276C>T (p.C1092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893018" "0" "10" "16" "49671410" "49671410" "subst" "0.000942699" "02330" "ZNF423_000085" "g.49671410C>T" "" "" "" "ZNF423(NM_001271620.2):c.1473G>A (p.P491=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000893019" "0" "30" "16" "49671692" "49671692" "subst" "2.43742E-5" "02330" "ZNF423_000086" "g.49671692G>A" "" "" "" "ZNF423(NM_001271620.2):c.1191C>T (p.N397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893020" "0" "30" "16" "49671955" "49671955" "subst" "0.000228404" "02326" "ZNF423_000087" "g.49671955C>T" "" "" "" "ZNF423(NM_015069.4):c.1108G>A (p.A370T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893021" "0" "30" "16" "49671956" "49671956" "subst" "0.000656671" "02330" "ZNF423_000081" "g.49671956G>A" "" "" "" "ZNF423(NM_001271620.2):c.927C>T (p.S309=), ZNF423(NM_015069.4):c.1107C>T (p.S369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000893022" "0" "30" "16" "49823390" "49823390" "subst" "0.000274838" "02330" "ZNF423_000027" "g.49823390G>A" "" "" "" "ZNF423(NM_001271620.2):c.-105+8C>T, ZNF423(NM_015069.4):c.76+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914632" "0" "10" "16" "49670026" "49670026" "subst" "0.00119048" "02326" "ZNF423_000008" "g.49670026G>A" "" "" "" "ZNF423(NM_001271620.2):c.2857C>T (p.L953=), ZNF423(NM_015069.4):c.3037C>T (p.L1013=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000914633" "0" "30" "16" "49670552" "49670552" "subst" "0.00316479" "02326" "ZNF423_000088" "g.49670552G>A" "" "" "" "ZNF423(NM_015069.4):c.2511C>T (p.T837=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000914634" "0" "10" "16" "49672376" "49672376" "subst" "0.00213323" "02326" "ZNF423_000019" "g.49672376G>A" "" "" "" "ZNF423(NM_001271620.2):c.507C>T (p.R169=), ZNF423(NM_015069.4):c.687C>T (p.R229=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000926295" "0" "30" "16" "49669712" "49669712" "subst" "0" "02330" "ZNF423_000089" "g.49669712A>G" "" "" "" "ZNF423(NM_001379286.1):c.3375T>C (p.C1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926296" "0" "30" "16" "49671893" "49671893" "subst" "0.0012328" "02326" "ZNF423_000090" "g.49671893C>T" "" "" "" "ZNF423(NM_001379286.1):c.1194G>A (p.P398=), ZNF423(NM_015069.4):c.1170G>A (p.P390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000926297" "0" "30" "16" "49823385" "49823385" "subst" "0.00104357" "02326" "ZNF423_000026" "g.49823385C>T" "" "" "" "ZNF423(NM_001271620.2):c.-105+13G>A, ZNF423(NM_015069.4):c.76+13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930610" "0" "10" "16" "49671074" "49671074" "subst" "0.00198906" "02326" "ZNF423_000011" "g.49671074C>T" "" "" "" "ZNF423(NM_001271620.2):c.1809G>A (p.A603=), ZNF423(NM_015069.4):c.1989G>A (p.A663=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000950672" "0" "30" "16" "49671893" "49671893" "subst" "0.0012328" "02330" "ZNF423_000090" "g.49671893C>T" "" "" "" "ZNF423(NM_001379286.1):c.1194G>A (p.P398=), ZNF423(NM_015069.4):c.1170G>A (p.P390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950673" "0" "30" "16" "49672280" "49672280" "subst" "0.000203894" "02330" "ZNF423_000091" "g.49672280G>A" "" "" "" "ZNF423(NM_001379286.1):c.807C>T (p.D269=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000950674" "0" "30" "16" "49889665" "49889665" "subst" "0" "02330" "ZNF423_000092" "g.49889665C>T" "" "" "" "ZNF423(NM_001379286.1):c.21G>A (p.A7=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000981921" "0" "50" "16" "49669833" "49669833" "subst" "0.000228679" "01804" "ZNF423_000093" "g.49669833T>C" "" "" "" "ZNF423(NM_001379286.1):c.3254A>G (p.(Gln1085Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981922" "0" "50" "16" "49670556" "49670556" "subst" "0.000345773" "01804" "ZNF423_000060" "g.49670556G>A" "" "" "" "ZNF423(NM_001271620.2):c.2327C>T (p.A776V), ZNF423(NM_001379286.1):c.2531C>T (p.A844V, p.(Ala844Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981923" "0" "50" "16" "49670775" "49670775" "subst" "4.47184E-5" "01804" "ZNF423_000094" "g.49670775G>A" "" "" "" "ZNF423(NM_001379286.1):c.2312C>T (p.(Ala771Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981924" "0" "30" "16" "49671213" "49671213" "subst" "0.000138092" "01804" "ZNF423_000095" "g.49671213C>T" "" "" "" "ZNF423(NM_001379286.1):c.1874G>A (p.(Arg625Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000981925" "0" "50" "16" "49671543" "49671543" "subst" "4.06428E-6" "01804" "ZNF423_000096" "g.49671543T>C" "" "" "" "ZNF423(NM_001379286.1):c.1544A>G (p.(Asn515Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981926" "0" "50" "16" "49671919" "49671919" "subst" "0.000801197" "01804" "ZNF423_000018" "g.49671919A>G" "" "" "" "ZNF423(NM_001271620.2):c.964T>C (p.S322P), ZNF423(NM_001379286.1):c.1168T>C (p.(Ser390Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981927" "0" "50" "16" "49764786" "49764786" "subst" "6.09127E-5" "01804" "ZNF423_000097" "g.49764786T>G" "" "" "" "ZNF423(NM_001379286.1):c.197A>C (p.(Asp66Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000981928" "0" "30" "16" "49861716" "49861716" "dup" "0" "01804" "ZNF423_000098" "g.49861716dup" "" "" "" "ZNF423(NM_001379286.1):c.40+27938dup" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002385" "0" "30" "16" "49525190" "49525190" "subst" "0.000467119" "02330" "ZNF423_000099" "g.49525190T>G" "" "" "" "ZNF423(NM_001379286.1):c.3875A>C (p.Q1292P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002386" "0" "30" "16" "49670556" "49670556" "subst" "0.000345773" "02330" "ZNF423_000060" "g.49670556G>A" "" "" "" "ZNF423(NM_001271620.2):c.2327C>T (p.A776V), ZNF423(NM_001379286.1):c.2531C>T (p.A844V, p.(Ala844Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001002387" "0" "50" "16" "49671963" "49671963" "subst" "0" "01804" "ZNF423_000100" "g.49671963A>C" "" "" "" "ZNF423(NM_015069.3):c.1100T>G (p.(Met367Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041154" "0" "50" "16" "49669843" "49669843" "subst" "3.54255E-5" "01804" "ZNF423_000101" "g.49669843G>A" "" "" "" "ZNF423(NM_001379286.1):c.3244C>T (p.(Arg1082Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041155" "0" "50" "16" "49670211" "49670211" "subst" "0.000310394" "01804" "ZNF423_000059" "g.49670211G>A" "" "" "" "ZNF423(NM_001271620.2):c.2672C>T (p.T891M), ZNF423(NM_001379286.1):c.2876C>T (p.(Thr959Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041156" "0" "50" "16" "49670325" "49670325" "subst" "0.000158653" "01804" "ZNF423_000034" "g.49670325G>A" "" "" "" "ZNF423(NM_001271620.2):c.2558C>T (p.P853L), ZNF423(NM_001379286.1):c.2762C>T (p.(Pro921Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041157" "0" "50" "16" "49671685" "49671685" "subst" "0.000280294" "01804" "ZNF423_000042" "g.49671685C>T" "" "" "" "ZNF423(NM_001271620.2):c.1198G>A (p.V400I), ZNF423(NM_001379286.1):c.1402G>A (p.(Val468Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041158" "0" "50" "16" "49671964" "49671964" "subst" "0" "01804" "ZNF423_000102" "g.49671964T>C" "" "" "" "ZNF423(NM_001379286.1):c.1123A>G (p.(Met375Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001041159" "0" "50" "16" "49764774" "49764774" "subst" "4.06062E-6" "01804" "ZNF423_000045" "g.49764774T>G" "" "" "" "ZNF423(NM_001271620.2):c.5A>C (p.E2A), ZNF423(NM_001379286.1):c.209A>C (p.(Glu70Ala))" "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 ZNF423
## Count = 135
"{{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}}"
"0000040363" "00025585" "30" "2938" "0" "2938" "0" "c.2938A>G" "r.(?)" "p.(Thr980Ala)" ""
"0000244204" "00025585" "90" "3370" "0" "3370" "0" "c.3370G>A" "r.(?)" "p.(Glu1124Lys)" ""
"0000244205" "00025585" "90" "266" "0" "266" "0" "c.266G>A" "r.(?)" "p.(Arg89His)" ""
"0000248684" "00025585" "10" "543" "0" "543" "0" "c.543T>C" "r.(?)" "p.(Arg181=)" ""
"0000256494" "00025585" "50" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Ser382Pro)" ""
"0000311456" "00025585" "10" "76" "13" "76" "13" "c.76+13G>A" "r.(=)" "p.(=)" ""
"0000311457" "00025585" "10" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Asp96=)" ""
"0000311458" "00025585" "10" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Lys4Glu)" ""
"0000311459" "00025585" "10" "1323" "0" "1323" "0" "c.1323C>T" "r.(?)" "p.(His441=)" ""
"0000311460" "00025585" "10" "1341" "0" "1341" "0" "c.1341G>C" "r.(?)" "p.(Leu447=)" ""
"0000311461" "00025585" "30" "1989" "0" "1989" "0" "c.1989G>A" "r.(?)" "p.(Ala663=)" ""
"0000311462" "00025585" "30" "2064" "0" "2064" "0" "c.2064G>A" "r.(?)" "p.(Thr688=)" ""
"0000311463" "00025585" "10" "2304" "0" "2304" "0" "c.2304C>T" "r.(?)" "p.(His768=)" ""
"0000311464" "00025585" "10" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Cys143=)" ""
"0000311465" "00025585" "10" "3037" "0" "3037" "0" "c.3037C>T" "r.(?)" "p.(Leu1013=)" ""
"0000311466" "00025585" "50" "208" "0" "208" "0" "c.208G>A" "r.(?)" "p.(Asp70Asn)" ""
"0000311467" "00025585" "10" "3202" "0" "3202" "0" "c.3202C>A" "r.(?)" "p.(Leu1068Met)" ""
"0000311468" "00025585" "10" "3267" "0" "3267" "0" "c.3267C>T" "r.(?)" "p.(Tyr1089=)" ""
"0000311469" "00025585" "10" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Cys1092=)" ""
"0000311470" "00025585" "10" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Arg229=)" ""
"0000311471" "00025585" "50" "1168" "0" "1168" "0" "c.1168C>T" "r.(?)" "p.(Pro390Ser)" ""
"0000315547" "00025585" "10" "1962" "0" "1962" "0" "c.1962C>T" "r.(?)" "p.(His654=)" ""
"0000315548" "00025585" "10" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Asn629Ser)" ""
"0000315549" "00025585" "10" "76" "8" "76" "8" "c.76+8C>T" "r.(=)" "p.(=)" ""
"0000315550" "00025585" "10" "278" "-49" "278" "-49" "c.278-49C>T" "r.(=)" "p.(=)" ""
"0000320261" "00025585" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Ala434=)" ""
"0000320262" "00025585" "50" "293" "0" "293" "0" "c.293C>G" "r.(?)" "p.(Pro98Arg)" ""
"0000320263" "00025585" "50" "11" "0" "11" "0" "c.11A>C" "r.(?)" "p.(Lys4Thr)" ""
"0000320264" "00025585" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Cys1092=)" ""
"0000320265" "00025585" "30" "3369" "0" "3369" "0" "c.3369C>T" "r.(?)" "p.(Pro1123=)" ""
"0000320266" "00025585" "30" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Arg229=)" ""
"0000558301" "00025585" "30" "3492" "14" "3492" "14" "c.3492+14A>G" "r.(=)" "p.(=)" ""
"0000558302" "00025585" "10" "3369" "0" "3369" "0" "c.3369C>T" "r.(?)" "p.(Pro1123=)" ""
"0000558303" "00025585" "30" "3337" "0" "3337" "0" "c.3337G>A" "r.(?)" "p.(Ala1113Thr)" ""
"0000558304" "00025585" "10" "3337" "0" "3337" "0" "c.3337G>A" "r.(?)" "p.(Ala1113Thr)" ""
"0000558305" "00025585" "50" "3221" "0" "3221" "0" "c.3221G>A" "r.(?)" "p.(Arg1074His)" ""
"0000558306" "00025585" "10" "3141" "0" "3141" "0" "c.3141G>A" "r.(?)" "p.(Ala1047=)" ""
"0000558307" "00025585" "30" "3141" "0" "3141" "0" "c.3141G>A" "r.(?)" "p.(Ala1047=)" ""
"0000558308" "00025585" "50" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Pro913Leu)" ""
"0000558309" "00025585" "50" "2616" "0" "2616" "0" "c.2616T>C" "r.(?)" "p.(His872=)" ""
"0000558310" "00025585" "10" "2376" "0" "2376" "0" "c.2376C>T" "r.(?)" "p.(Thr792=)" ""
"0000558311" "00025585" "30" "2109" "0" "2109" "0" "c.2109G>A" "r.(?)" "p.(Ser703=)" ""
"0000558312" "00025585" "30" "1824" "0" "1824" "0" "c.1824C>T" "r.(?)" "p.(Ser608=)" ""
"0000558313" "00025585" "30" "1628" "0" "1628" "0" "c.1628T>C" "r.(?)" "p.(Val543Ala)" ""
"0000558314" "00025585" "50" "1559" "0" "1559" "0" "c.1559A>G" "r.(?)" "p.(Asn520Ser)" ""
"0000558315" "00025585" "50" "1471" "0" "1471" "0" "c.1471G>T" "r.(?)" "p.(Asp491Tyr)" ""
"0000558316" "00025585" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Ile)" ""
"0000558317" "00025585" "30" "1341" "0" "1341" "0" "c.1341G>C" "r.(?)" "p.(Leu447=)" ""
"0000558318" "00025585" "30" "1302" "0" "1302" "0" "c.1302G>A" "r.(?)" "p.(Ala434=)" ""
"0000558319" "00025585" "30" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Ser254Leu)" ""
"0000558320" "00025585" "30" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Gly230Ser)" ""
"0000558321" "00025585" "30" "429" "0" "429" "0" "c.429C>T" "r.(?)" "p.(Cys143=)" ""
"0000558322" "00025585" "30" "185" "0" "185" "0" "c.185A>C" "r.(?)" "p.(Glu62Ala)" ""
"0000616012" "00025585" "30" "3578" "-16" "3578" "-16" "c.3578-16C>T" "r.(=)" "p.(=)" ""
"0000616013" "00025585" "50" "2758" "0" "2758" "0" "c.2758C>T" "r.(?)" "p.(Arg920Cys)" ""
"0000616014" "00025585" "30" "2109" "0" "2109" "0" "c.2109G>A" "r.(?)" "p.(Ser703=)" ""
"0000616015" "00025585" "30" "1125" "0" "1125" "0" "c.1125C>T" "r.(?)" "p.(Ser375=)" ""
"0000616016" "00025585" "50" "802" "0" "802" "0" "c.802T>G" "r.(?)" "p.(Cys268Gly)" ""
"0000623472" "00025585" "30" "2919" "0" "2919" "0" "c.2919G>A" "r.(?)" "p.(Thr973=)" ""
"0000623473" "00025585" "50" "2734" "0" "2734" "0" "c.2734C>T" "r.(?)" "p.(Arg912Trp)" ""
"0000623474" "00025585" "50" "2108" "0" "2108" "0" "c.2108C>T" "r.(?)" "p.(Ser703Leu)" ""
"0000623475" "00025585" "30" "1728" "0" "1728" "0" "c.1728C>T" "r.(?)" "p.(Ser576=)" ""
"0000623476" "00025585" "30" "76" "9" "76" "9" "c.76+9C>G" "r.(=)" "p.(=)" ""
"0000623477" "00025585" "30" "17" "-7" "17" "-6" "c.17-7_17-6del" "r.(=)" "p.(=)" ""
"0000649331" "00025585" "10" "3156" "0" "3156" "0" "c.3156G>A" "r.(=)" "p.(=)" ""
"0000649332" "00025585" "10" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Asn629Ser)" ""
"0000649333" "00025585" "10" "1845" "0" "1845" "0" "c.1845G>A" "r.(=)" "p.(=)" ""
"0000657858" "00025585" "30" "3198" "0" "3198" "0" "c.3198C>T" "r.(?)" "p.(Cys1066=)" ""
"0000669331" "00025585" "10" "1886" "0" "1886" "0" "c.1886A>G" "r.(?)" "p.(Asn629Ser)" ""
"0000669332" "00025585" "10" "1845" "0" "1845" "0" "c.1845G>A" "r.(=)" "p.(=)" ""
"0000680587" "00025585" "50" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Thr951Met)" ""
"0000680588" "00025585" "30" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Ala836Val)" ""
"0000692079" "00025585" "50" "1554" "0" "1554" "0" "c.1554C>G" "r.(?)" "p.(Phe518Leu)" ""
"0000692080" "00025585" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(Ser218=)" ""
"0000725811" "00025585" "30" "3369" "0" "3369" "0" "c.3369C>T" "r.(?)" "p.(Pro1123=)" ""
"0000725812" "00025585" "30" "1989" "0" "1989" "0" "c.1989G>T" "r.(?)" "p.(Ala663=)" ""
"0000725813" "00025585" "50" "1982" "0" "1982" "0" "c.1982A>C" "r.(?)" "p.(Lys661Thr)" ""
"0000725814" "00025585" "50" "1382" "0" "1382" "0" "c.1382G>A" "r.(?)" "p.(Arg461His)" ""
"0000725815" "00025585" "30" "1301" "0" "1301" "0" "c.1301C>T" "r.(?)" "p.(Ala434Val)" ""
"0000725816" "00025585" "30" "288" "0" "288" "0" "c.288C>T" "r.(?)" "p.(Asp96=)" ""
"0000725817" "00025585" "30" "63" "0" "63" "0" "c.63C>T" "r.(?)" "p.(Ser21=)" ""
"0000725818" "00025585" "50" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Lys4Glu)" ""
"0000788326" "00025585" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "4"
"0000788390" "00025585" "50" "955" "0" "955" "0" "c.955G>A" "r.(?)" "p.(Ala319Thr)" "4"
"0000807424" "00025585" "10" "3493" "-18" "3493" "-18" "c.3493-18T>C" "r.(=)" "p.(=)" ""
"0000807425" "00025585" "50" "3155" "0" "3155" "0" "c.3155C>T" "r.(?)" "p.(Ala1052Val)" ""
"0000807426" "00025585" "50" "2878" "0" "2878" "0" "c.2878A>G" "r.(?)" "p.(Met960Val)" ""
"0000807427" "00025585" "30" "1959" "0" "1959" "0" "c.1959G>A" "r.(?)" "p.(Leu653=)" ""
"0000807428" "00025585" "50" "1270" "0" "1270" "0" "c.1270G>A" "r.(?)" "p.(Val424Met)" ""
"0000834118" "00025585" "50" "1059" "0" "1059" "0" "c.1059C>A" "r.(?)" "p.(His353Gln)" "5"
"0000854525" "00025585" "30" "3578" "-16" "3578" "-16" "c.3578-16C>T" "r.(=)" "p.(=)" ""
"0000854526" "00025585" "30" "3480" "0" "3480" "0" "c.3480G>A" "r.(?)" "p.(Ser1160=)" ""
"0000854527" "00025585" "30" "3156" "0" "3156" "0" "c.3156G>A" "r.(?)" "p.(Ala1052=)" ""
"0000854528" "00025585" "30" "2517" "0" "2517" "0" "c.2517C>T" "r.(?)" "p.(Asn839=)" ""
"0000854529" "00025585" "30" "1631" "0" "1631" "0" "c.1631G>T" "r.(?)" "p.(Gly544Val)" ""
"0000854530" "00025585" "50" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Ser410Asn)" ""
"0000854531" "00025585" "30" "76" "8" "76" "8" "c.76+8C>T" "r.(=)" "p.(=)" ""
"0000864820" "00025585" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Ser369=)" ""
"0000864821" "00025585" "30" "10" "0" "10" "0" "c.10A>G" "r.(?)" "p.(Lys4Glu)" ""
"0000873592" "00025585" "70" "1801" "0" "1801" "0" "c.1801G>A" "r.(?)" "p.(Ala601Thr)" ""
"0000873593" "00025585" "70" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Gly513Ser)" ""
"0000893016" "00025585" "30" "3825" "9" "3825" "9" "c.3825+9C>A" "r.(=)" "p.(=)" ""
"0000893017" "00025585" "30" "3276" "0" "3276" "0" "c.3276C>T" "r.(?)" "p.(Cys1092=)" ""
"0000893018" "00025585" "10" "1653" "0" "1653" "0" "c.1653G>A" "r.(?)" "p.(Pro551=)" ""
"0000893019" "00025585" "30" "1371" "0" "1371" "0" "c.1371C>T" "r.(?)" "p.(Asn457=)" ""
"0000893020" "00025585" "30" "1108" "0" "1108" "0" "c.1108G>A" "r.(?)" "p.(Ala370Thr)" ""
"0000893021" "00025585" "30" "1107" "0" "1107" "0" "c.1107C>T" "r.(?)" "p.(Ser369=)" ""
"0000893022" "00025585" "30" "76" "8" "76" "8" "c.76+8C>T" "r.(=)" "p.(=)" ""
"0000914632" "00025585" "10" "3037" "0" "3037" "0" "c.3037C>T" "r.(?)" "p.(Leu1013=)" ""
"0000914633" "00025585" "30" "2511" "0" "2511" "0" "c.2511C>T" "r.(?)" "p.(Thr837=)" ""
"0000914634" "00025585" "10" "687" "0" "687" "0" "c.687C>T" "r.(?)" "p.(Arg229=)" ""
"0000926295" "00025585" "30" "3351" "0" "3351" "0" "c.3351T>C" "r.(?)" "p.(Cys1117=)" ""
"0000926296" "00025585" "30" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Pro390=)" ""
"0000926297" "00025585" "30" "76" "13" "76" "13" "c.76+13G>A" "r.(=)" "p.(=)" ""
"0000930610" "00025585" "10" "1989" "0" "1989" "0" "c.1989G>A" "r.(?)" "p.(Ala663=)" ""
"0000950672" "00025585" "30" "1170" "0" "1170" "0" "c.1170G>A" "r.(?)" "p.(Pro390=)" ""
"0000950673" "00025585" "30" "783" "0" "783" "0" "c.783C>T" "r.(?)" "p.(=)" ""
"0000950674" "00025585" "30" "-33069" "0" "-33069" "0" "c.-33069G>A" "r.(?)" "p.(=)" ""
"0000981921" "00025585" "50" "3230" "0" "3230" "0" "c.3230A>G" "r.(?)" "p.(Gln1077Arg)" ""
"0000981922" "00025585" "50" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Ala836Val)" ""
"0000981923" "00025585" "50" "2288" "0" "2288" "0" "c.2288C>T" "r.(?)" "p.(Ala763Val)" ""
"0000981924" "00025585" "30" "1850" "0" "1850" "0" "c.1850G>A" "r.(?)" "p.(Arg617Gln)" ""
"0000981925" "00025585" "50" "1520" "0" "1520" "0" "c.1520A>G" "r.(?)" "p.(Asn507Ser)" ""
"0000981926" "00025585" "50" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Ser382Pro)" ""
"0000981927" "00025585" "50" "173" "0" "173" "0" "c.173A>C" "r.(?)" "p.(Asp58Ala)" ""
"0000981928" "00025585" "30" "-5112" "0" "-5112" "0" "c.-5112dup" "r.(?)" "p.(=)" ""
"0001002385" "00025585" "30" "3851" "0" "3851" "0" "c.3851A>C" "r.(?)" "p.(Gln1284Pro)" ""
"0001002386" "00025585" "30" "2507" "0" "2507" "0" "c.2507C>T" "r.(?)" "p.(Ala836Val)" ""
"0001002387" "00025585" "50" "1100" "0" "1100" "0" "c.1100T>G" "r.(?)" "p.(Met367Arg)" ""
"0001041154" "00025585" "50" "3220" "0" "3220" "0" "c.3220C>T" "r.(?)" "p.(Arg1074Cys)" ""
"0001041155" "00025585" "50" "2852" "0" "2852" "0" "c.2852C>T" "r.(?)" "p.(Thr951Met)" ""
"0001041156" "00025585" "50" "2738" "0" "2738" "0" "c.2738C>T" "r.(?)" "p.(Pro913Leu)" ""
"0001041157" "00025585" "50" "1378" "0" "1378" "0" "c.1378G>A" "r.(?)" "p.(Val460Ile)" ""
"0001041158" "00025585" "50" "1099" "0" "1099" "0" "c.1099A>G" "r.(?)" "p.(Met367Val)" ""
"0001041159" "00025585" "50" "185" "0" "185" "0" "c.185A>C" "r.(?)" "p.(Glu62Ala)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 13
"{{screeningid}}" "{{variantid}}"
"0000019889" "0000040363"
"0000145015" "0000788326"
"0000151040" "0000244204"
"0000151040" "0000244205"
"0000292642" "0000649331"
"0000292643" "0000649332"
"0000292644" "0000649333"
"0000305643" "0000669331"
"0000305644" "0000669332"
"0000376611" "0000788390"
"0000401075" "0000834118"
"0000415720" "0000873592"
"0000415720" "0000873593"