### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ZNF592) # 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}}" "ZNF592" "zinc finger protein 592" "15" "q25.2" "unknown" "NG_028094.1" "UD_132085416884" "" "http://www.LOVD.nl/ZNF592" "" "1" "28986" "9640" "613624" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/ZNF592_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2015-06-16 16:54:06" "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}}" "00023559" "ZNF592" "zinc finger protein 592" "001" "NM_014630.2" "" "NP_055445.2" "" "" "" "-336" "7843" "3804" "85291818" "85349663" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "04283" "GAMOS1" "Galloway-Mowat syndrome (GAMOS)" "AR" "251300" "" "" "" "00006" "2015-06-16 08:38:15" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ZNF592" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00043750" "" "" "" "6" "" "00006" "{PMID:Nicolas 2010:20531441}, {DOI:Nicolas 2010:10.1038/ejhg.2010.82}" "6-generation family, 6 affecteds (1F, 5M), unaffected heterozygous carriers" "" "yes" "Lebanon" "" "0" "" "" "Druze" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00043750" "04283" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 04283 ## Count = 1 "{{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}}" "0000041566" "04283" "00043750" "00006" "Familial, autosomal recessive" "" "see paper; cerebellar ataxia with mental retardation, optic atrophy, skin abnormalities, ..." "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000043992" "00043750" "1" "00006" "00006" "2015-06-16 17:03:18" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000043992" "ZNF592" ## 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}}" "0000071777" "3" "90" "15" "85342440" "85342440" "subst" "0.000129943" "00006" "ZNF592_000001" "g.85342440G>A" "" "{PMID:Nicolas 2010:20531441}, {DOI:Nicolas 2010:10.1038/ejhg.2010.82}, {OMIM613624:00001}" "" "" "homozygosity mapping; not in 444 control chromosomes; raised mRNA expression level" "Germline" "yes" "rs150829393" "0" "" "" "g.84799209G>A" "" "pathogenic" "" "0000247969" "0" "10" "15" "85333953" "85333953" "subst" "0.747464" "02325" "ZNF592_000015" "g.85333953A>G" "" "" "" "ZNF592(NM_014630.2):c.2238A>G (p.Q746=), ZNF592(NM_014630.3):c.2238A>G (p.Q746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84790722A>G" "" "benign" "" "0000253230" "0" "10" "15" "85333953" "85333953" "subst" "0.747464" "01943" "ZNF592_000015" "g.85333953A>G" "" "" "" "ZNF592(NM_014630.2):c.2238A>G (p.Q746=), ZNF592(NM_014630.3):c.2238A>G (p.Q746=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84790722A>G" "" "benign" "" "0000254257" "0" "30" "15" "85345510" "85345510" "subst" "0.00203362" "01943" "ZNF592_000021" "g.85345510A>G" "" "" "" "ZNF592(NM_014630.2):c.3690A>G (p.P1230=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84802279A>G" "" "likely benign" "" "0000254709" "0" "30" "15" "85342086" "85342086" "subst" "4.35104E-6" "01943" "ZNF592_000018" "g.85342086A>G" "" "" "" "ZNF592(NM_014630.2):c.3004A>G (p.M1002V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84798855A>G" "" "likely benign" "" "0000254863" "0" "30" "15" "85326734" "85326734" "subst" "0.000848779" "01943" "ZNF592_000006" "g.85326734A>G" "" "" "" "ZNF592(NM_014630.2):c.828A>G (p.P276=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84783503A>G" "" "likely benign" "" "0000256103" "0" "50" "15" "85327743" "85327743" "subst" "0" "01943" "ZNF592_000011" "g.85327743A>G" "" "" "" "ZNF592(NM_014630.2):c.1837A>G (p.I613V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84784512A>G" "" "VUS" "" "0000313169" "0" "10" "15" "85341859" "85341859" "subst" "0.297131" "02325" "ZNF592_000016" "g.85341859G>A" "" "" "" "ZNF592(NM_014630.2):c.2777G>A (p.S926N), ZNF592(NM_014630.3):c.2777G>A (p.S926N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84798628G>A" "" "benign" "" "0000320304" "0" "30" "15" "85326955" "85326955" "subst" "0.00836129" "01943" "ZNF592_000008" "g.85326955G>A" "" "" "" "ZNF592(NM_014630.2):c.1049G>A (p.R350H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84783724G>A" "" "likely benign" "" "0000320305" "0" "50" "15" "85327103" "85327103" "subst" "1.21849E-5" "01943" "ZNF592_000009" "g.85327103T>G" "" "" "" "ZNF592(NM_014630.2):c.1197T>G (p.D399E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84783872T>G" "" "VUS" "" "0000320306" "0" "30" "15" "85327526" "85327526" "subst" "8.12704E-6" "01943" "ZNF592_000010" "g.85327526G>C" "" "" "" "ZNF592(NM_014630.2):c.1620G>C (p.L540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84784295G>C" "" "likely benign" "" "0000320307" "0" "50" "15" "85327798" "85327798" "subst" "0.000154517" "01943" "ZNF592_000012" "g.85327798G>C" "" "" "" "ZNF592(NM_014630.2):c.1892G>C (p.S631T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84784567G>C" "" "VUS" "" "0000320308" "0" "50" "15" "85327880" "85327880" "subst" "0.000199398" "01943" "ZNF592_000013" "g.85327880G>A" "" "" "" "ZNF592(NM_014630.2):c.1974G>A (p.A658=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84784649G>A" "" "VUS" "" "0000320309" "0" "30" "15" "85327966" "85327966" "subst" "0.000341327" "01943" "ZNF592_000014" "g.85327966C>T" "" "" "" "ZNF592(NM_014630.2):c.2060C>T (p.S687L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84784735C>T" "" "likely benign" "" "0000320310" "0" "10" "15" "85341859" "85341859" "subst" "0.297131" "01943" "ZNF592_000016" "g.85341859G>A" "" "" "" "ZNF592(NM_014630.2):c.2777G>A (p.S926N), ZNF592(NM_014630.3):c.2777G>A (p.S926N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84798628G>A" "" "benign" "" "0000320311" "0" "50" "15" "85341891" "85341891" "subst" "0.000301026" "01943" "ZNF592_000017" "g.85341891C>T" "" "" "" "ZNF592(NM_014630.2):c.2809C>T (p.R937C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84798660C>T" "" "VUS" "" "0000320312" "0" "50" "15" "85342440" "85342440" "subst" "0.000129943" "01943" "ZNF592_000001" "g.85342440G>A" "" "" "" "ZNF592(NM_014630.2):c.3136G>A (p.G1046R, p.(Gly1046Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84799209G>A" "" "VUS" "" "0000320313" "0" "30" "15" "85345216" "85345216" "subst" "0.0038217" "01943" "ZNF592_000019" "g.85345216C>T" "" "" "" "ZNF592(NM_014630.2):c.3396C>T (p.A1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84801985C>T" "" "likely benign" "" "0000320314" "0" "50" "15" "85345352" "85345352" "subst" "0" "01943" "ZNF592_000020" "g.85345352G>T" "" "" "" "ZNF592(NM_014630.2):c.3532G>T (p.V1178L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84802121G>T" "" "VUS" "" "0000320315" "0" "50" "15" "85326421" "85326421" "subst" "0.000557818" "01943" "ZNF592_000004" "g.85326421C>T" "" "" "" "ZNF592(NM_014630.2):c.515C>T (p.P172L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84783190C>T" "" "VUS" "" "0000320316" "0" "30" "15" "85326431" "85326431" "subst" "0" "01943" "ZNF592_000005" "g.85326431C>T" "" "" "" "ZNF592(NM_014630.2):c.525C>T (p.C175=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84783200C>T" "" "likely benign" "" "0000324246" "0" "50" "15" "85326044" "85326044" "subst" "0" "01804" "ZNF592_000002" "g.85326044A>G" "" "" "" "ZNF592(NM_014630.2):c.138A>G (p.(Ile46Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84782813A>G" "" "VUS" "" "0000324247" "0" "30" "15" "85326075" "85326075" "subst" "0.00021522" "01804" "ZNF592_000003" "g.85326075T>G" "" "" "" "ZNF592(NM_014630.2):c.169T>G (p.S57A, p.(Ser57Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84782844T>G" "" "likely benign" "" "0000324249" "0" "50" "15" "85345569" "85345569" "subst" "0" "01804" "ZNF592_000022" "g.85345569G>C" "" "" "" "ZNF592(NM_014630.2):c.3749G>C (p.(Ser1250Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84802338G>C" "" "VUS" "" "0000341122" "0" "10" "15" "85345216" "85345216" "subst" "0.0038217" "02327" "ZNF592_000019" "g.85345216C>T" "" "" "" "ZNF592(NM_014630.2):c.3396C>T (p.A1132=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84801985C>T" "" "benign" "" "0000345629" "0" "50" "15" "85342440" "85342440" "subst" "0.000129943" "02327" "ZNF592_000001" "g.85342440G>A" "" "" "" "ZNF592(NM_014630.2):c.3136G>A (p.G1046R, p.(Gly1046Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84799209G>A" "" "VUS" "" "0000555654" "0" "30" "15" "85326075" "85326075" "subst" "0.00021522" "01943" "ZNF592_000003" "g.85326075T>G" "" "" "" "ZNF592(NM_014630.2):c.169T>G (p.S57A, p.(Ser57Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84782844T>G" "" "likely benign" "" "0000555656" "0" "30" "15" "85326560" "85326560" "subst" "0.000101627" "01943" "ZNF592_000024" "g.85326560C>T" "" "" "" "ZNF592(NM_014630.2):c.654C>T (p.H218=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84783329C>T" "" "likely benign" "" "0000555657" "0" "30" "15" "85326798" "85326798" "subst" "0.00303397" "01943" "ZNF592_000025" "g.85326798A>G" "" "" "" "ZNF592(NM_014630.2):c.892A>G (p.S298G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84783567A>G" "" "likely benign" "" "0000555659" "0" "30" "15" "85341094" "85341094" "subst" "0" "01804" "ZNF592_000026" "g.85341094G>T" "" "" "" "ZNF592(NM_014630.2):c.2400-6G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84797863G>T" "" "likely benign" "" "0000555660" "0" "50" "15" "85342011" "85342011" "subst" "2.99289E-5" "01943" "ZNF592_000027" "g.85342011C>T" "" "" "" "ZNF592(NM_014630.2):c.2929C>T (p.R977W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84798780C>T" "" "VUS" "" "0000555661" "0" "30" "15" "85345282" "85345282" "subst" "0.000975816" "01943" "ZNF592_000028" "g.85345282A>G" "" "" "" "ZNF592(NM_014630.2):c.3462A>G (p.Q1154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84802051A>G" "" "likely benign" "" "0000615562" "0" "30" "15" "85343171" "85343171" "subst" "0.000280196" "02325" "ZNF592_000029" "g.85343171C>T" "" "" "" "ZNF592(NM_014630.3):c.3236C>T (p.T1079M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84799940C>T" "" "likely benign" "" "0000657676" "0" "50" "15" "85345375" "85345377" "dup" "0" "02325" "ZNF592_000030" "g.85345375_85345377dup" "" "" "" "ZNF592(NM_014630.3):c.3555_3557dupGGA (p.E1188dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84802144_84802146dup" "" "VUS" "" "0000725326" "0" "50" "15" "85326148" "85326148" "subst" "2.43647E-5" "02325" "ZNF592_000031" "g.85326148C>T" "" "" "" "ZNF592(NM_014630.3):c.242C>T (p.A81V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000725327" "0" "50" "15" "85326904" "85326904" "subst" "4.06147E-5" "02325" "ZNF592_000032" "g.85326904G>A" "" "" "" "ZNF592(NM_014630.3):c.998G>A (p.R333Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863983" "0" "50" "15" "85342008" "85342008" "subst" "0.000161981" "02325" "ZNF592_000033" "g.85342008C>T" "" "" "" "ZNF592(NM_014630.3):c.2926C>T (p.P976S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001001713" "0" "50" "15" "85342440" "85342440" "subst" "0.000129943" "01804" "ZNF592_000001" "g.85342440G>A" "" "" "" "ZNF592(NM_014630.2):c.3136G>A (p.G1046R, p.(Gly1046Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001040634" "0" "50" "15" "85342381" "85342381" "subst" "0" "01804" "ZNF592_000034" "g.85342381A>G" "" "" "" "ZNF592(NM_014630.3):c.3077A>G (p.(Asn1026Ser))" "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 ZNF592 ## 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}}" "0000071777" "00023559" "90" "3136" "0" "3136" "0" "c.3136G>A" "r.3136g>a" "p.Gly1046Arg" "9" "0000247969" "00023559" "10" "2238" "0" "2238" "0" "c.2238A>G" "r.(?)" "p.(Gln746=)" "" "0000253230" "00023559" "10" "2238" "0" "2238" "0" "c.2238A>G" "r.(?)" "p.(Gln746=)" "" "0000254257" "00023559" "30" "3690" "0" "3690" "0" "c.3690A>G" "r.(?)" "p.(Pro1230=)" "" "0000254709" "00023559" "30" "3004" "0" "3004" "0" "c.3004A>G" "r.(?)" "p.(Met1002Val)" "" "0000254863" "00023559" "30" "828" "0" "828" "0" "c.828A>G" "r.(?)" "p.(Pro276=)" "" "0000256103" "00023559" "50" "1837" "0" "1837" "0" "c.1837A>G" "r.(?)" "p.(Ile613Val)" "" "0000313169" "00023559" "10" "2777" "0" "2777" "0" "c.2777G>A" "r.(?)" "p.(Ser926Asn)" "" "0000320304" "00023559" "30" "1049" "0" "1049" "0" "c.1049G>A" "r.(?)" "p.(Arg350His)" "" "0000320305" "00023559" "50" "1197" "0" "1197" "0" "c.1197T>G" "r.(?)" "p.(Asp399Glu)" "" "0000320306" "00023559" "30" "1620" "0" "1620" "0" "c.1620G>C" "r.(?)" "p.(Leu540=)" "" "0000320307" "00023559" "50" "1892" "0" "1892" "0" "c.1892G>C" "r.(?)" "p.(Ser631Thr)" "" "0000320308" "00023559" "50" "1974" "0" "1974" "0" "c.1974G>A" "r.(?)" "p.(Ala658=)" "" "0000320309" "00023559" "30" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Ser687Leu)" "" "0000320310" "00023559" "10" "2777" "0" "2777" "0" "c.2777G>A" "r.(?)" "p.(Ser926Asn)" "" "0000320311" "00023559" "50" "2809" "0" "2809" "0" "c.2809C>T" "r.(?)" "p.(Arg937Cys)" "" "0000320312" "00023559" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Gly1046Arg)" "" "0000320313" "00023559" "30" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(Ala1132=)" "" "0000320314" "00023559" "50" "3532" "0" "3532" "0" "c.3532G>T" "r.(?)" "p.(Val1178Leu)" "" "0000320315" "00023559" "50" "515" "0" "515" "0" "c.515C>T" "r.(?)" "p.(Pro172Leu)" "" "0000320316" "00023559" "30" "525" "0" "525" "0" "c.525C>T" "r.(?)" "p.(Cys175=)" "" "0000324246" "00023559" "50" "138" "0" "138" "0" "c.138A>G" "r.(?)" "p.(Ile46Met)" "" "0000324247" "00023559" "30" "169" "0" "169" "0" "c.169T>G" "r.(?)" "p.(Ser57Ala)" "" "0000324249" "00023559" "50" "3749" "0" "3749" "0" "c.3749G>C" "r.(?)" "p.(Ser1250Thr)" "" "0000341122" "00023559" "10" "3396" "0" "3396" "0" "c.3396C>T" "r.(?)" "p.(Ala1132=)" "" "0000345629" "00023559" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Gly1046Arg)" "" "0000555654" "00023559" "30" "169" "0" "169" "0" "c.169T>G" "r.(?)" "p.(Ser57Ala)" "" "0000555656" "00023559" "30" "654" "0" "654" "0" "c.654C>T" "r.(?)" "p.(His218=)" "" "0000555657" "00023559" "30" "892" "0" "892" "0" "c.892A>G" "r.(?)" "p.(Ser298Gly)" "" "0000555659" "00023559" "30" "2400" "-6" "2400" "-6" "c.2400-6G>T" "r.(=)" "p.(=)" "" "0000555660" "00023559" "50" "2929" "0" "2929" "0" "c.2929C>T" "r.(?)" "p.(Arg977Trp)" "" "0000555661" "00023559" "30" "3462" "0" "3462" "0" "c.3462A>G" "r.(?)" "p.(Gln1154=)" "" "0000615562" "00023559" "30" "3236" "0" "3236" "0" "c.3236C>T" "r.(?)" "p.(Thr1079Met)" "" "0000657676" "00023559" "50" "3555" "0" "3557" "0" "c.3555_3557dup" "r.(?)" "p.(Glu1188dup)" "" "0000725326" "00023559" "50" "242" "0" "242" "0" "c.242C>T" "r.(?)" "p.(Ala81Val)" "" "0000725327" "00023559" "50" "998" "0" "998" "0" "c.998G>A" "r.(?)" "p.(Arg333Gln)" "" "0000863983" "00023559" "50" "2926" "0" "2926" "0" "c.2926C>T" "r.(?)" "p.(Pro976Ser)" "" "0001001713" "00023559" "50" "3136" "0" "3136" "0" "c.3136G>A" "r.(?)" "p.(Gly1046Arg)" "" "0001040634" "00023559" "50" "3077" "0" "3077" "0" "c.3077A>G" "r.(?)" "p.(Asn1026Ser)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000043992" "0000071777"