### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FZD6) # 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}}" "FZD6" "frizzled family receptor 6" "8" "q22.3-q23.1" "unknown" "NG_028909.1" "UD_132084436340" "" "https://www.LOVD.nl/FZD6" "" "1" "4044" "8323" "603409" "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/FZD6_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2011-08-11 00:00:00" "00006" "2017-07-04 17:08:14" "00000" "2025-11-01 13:22:20" ## 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}}" "00024283" "FZD6" "transcript variant 2" "001" "NM_001164615.1" "" "NP_001158087.1" "" "" "" "-290" "3478" "2121" "104310661" "104345094" "00006" "2017-07-04 17:06:56" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00860" "NTD" "neural tube defects, susceptibility to (NTD)" "AD" "182940" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-19 16:44:17" "03563" "NDNC10" "nail disorder, nonsyndromic congenital, type 10, (claw-shaped nails) (NDNC-10)" "" "614157" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "06778" "NDNC1" "Nail disorder, nonsyndromic congenital, 1" "AR" "161050" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FZD6" "03563" "FZD6" "06778" ## Individuals ## Do not remove or alter this header ## ## Count = 16 "{{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}}" "00107858" "" "" "" "1" "" "01926" "" "" "F" "" "Italy" "" "0" "" "" "Italian" "" "00107859" "" "" "" "1" "" "01926" "" "" "F" "" "Italy" "" "0" "" "" "Italian" "" "00107860" "" "" "" "1" "" "01926" "" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00107861" "" "" "" "1" "" "01926" "" "" "F" "" "Italy" "" "0" "" "" "Italian" "" "00107862" "" "" "" "2" "" "01926" "" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00107863" "" "" "" "1" "" "01926" "" "Maternal third-degree relative has open Neural Tube DefectTD; parents are first- degree cousins." "F" "yes" "Italy" "" "0" "" "" "Italian" "" "00107864" "" "" "" "1" "" "01926" "" "" "M" "" "Canada" "" "0" "" "" "white" "" "00107865" "" "" "" "1" "" "01926" "" "" "F" "" "Italy" "" "0" "" "" "Italian" "" "00107866" "" "" "" "1" "" "01926" "" "" "M" "" "Italy" "" "0" "" "" "Italian" "" "00107867" "" "" "" "1" "" "01926" "" "" "" "" "Italy" "" "0" "" "" "Italian" "" "00107868" "" "" "" "1" "" "01926" "" "" "F" "" "Italy" "" "0" "" "" "Italian" "" "00107869" "" "" "" "1" "" "01926" "" "" "" "" "Italy" "" "0" "" "" "" "" "00107870" "" "" "" "1" "" "01926" "" "maternal aunt died for hydrocephalus" "" "" "Canada" "" "0" "" "" "white" "" "00107871" "" "" "" "1" "" "01926" "" "" "M" "" "Canada" "" "0" "" "" "white" "" "00107872" "" "" "" "2" "" "01926" "" "" "" "" "Italy" "" "0" "" "" "" "" "00453428" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 16 "{{individualid}}" "{{diseaseid}}" "00107858" "00860" "00107859" "00860" "00107860" "00198" "00107861" "00860" "00107862" "00198" "00107863" "00860" "00107864" "00860" "00107865" "00860" "00107866" "00860" "00107867" "00198" "00107868" "00860" "00107869" "00198" "00107870" "00860" "00107871" "00860" "00107872" "00198" "00453428" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00860, 03563, 06778 ## Count = 11 "{{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}}" "0000085617" "00860" "00107858" "01926" "Unknown" "" "sacral agenesis, lumbo-sacral LipoMMC, tethered cord, right bladder-ureteral reflux" "" "" "" "" "" "" "" "" "" "" "" "0000085618" "00860" "00107859" "01926" "Unknown" "" "Lumbo-sacral LipoMMC" "" "" "" "" "" "" "" "" "" "" "" "0000085619" "00860" "00107861" "01926" "Unknown" "" "Myelomeningocele and hydrocephalus" "" "" "" "" "" "" "" "" "" "" "" "0000085620" "00860" "00107863" "01926" "Unknown" "" "Lumbo-sacral myelomeningocele, hydrocephalus" "" "" "" "" "" "" "" "" "" "" "" "0000085621" "00860" "00107864" "01926" "Unknown" "" "MMC, sphincteric incontinence, neurogenic bladder" "" "" "" "" "" "" "" "" "" "" "" "0000085622" "00860" "00107865" "01926" "Unknown" "" "MMC, Chiari malformation type II" "" "" "" "" "" "" "" "" "" "" "" "0000085623" "00860" "00107866" "01926" "Unknown" "" "sacral agenesis, spondilo-costal dysplasia, meningocele, tethered cord, hydromyelia, club foot, left kidney agenesis, convex dorso-lumbar scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000085624" "00860" "00107868" "01926" "Unknown" "" "Right anterior thoracic-MC, hydromyelia, intra-dural lipoma, spondilo-costal dysplasia, complex scoliosis" "" "" "" "" "" "" "" "" "" "" "" "0000085625" "00860" "00107870" "01926" "Unknown" "" "Occipital encephalocele" "" "" "" "" "" "" "" "" "" "" "" "0000085626" "00860" "00107871" "01926" "Unknown" "" "Meningocele, dermal sinus, tethered cord" "" "" "" "" "" "" "" "" "" "" "" "0000342091" "00198" "00453428" "03544" "Isolated (sporadic)" "" "HP:0001597" "" "" "" "" "" "" "" "" "NDNC1" "nail malformation" "" ## Screenings ## Do not remove or alter this header ## ## Count = 16 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000108327" "00107858" "1" "01926" "01926" "2011-08-29 11:34:39" "" "" "SEQ" "DNA" "" "" "0000108328" "00107859" "1" "01926" "01926" "2011-08-29 11:40:52" "" "" "SEQ" "DNA" "" "" "0000108329" "00107860" "1" "01926" "01926" "2011-08-30 14:03:48" "" "" "SEQ" "DNA" "" "" "0000108330" "00107861" "1" "01926" "01926" "2011-08-24 15:44:58" "" "" "SEQ" "DNA" "" "" "0000108331" "00107862" "1" "01926" "01926" "2011-08-26 15:41:23" "" "" "SEQ" "DNA" "" "" "0000108332" "00107863" "1" "01926" "01926" "2011-08-24 15:12:34" "" "" "SEQ" "DNA" "" "" "0000108333" "00107864" "1" "01926" "01926" "2011-08-24 15:18:04" "" "" "SEQ" "DNA" "" "" "0000108334" "00107865" "1" "01926" "01926" "2011-08-24 15:29:42" "" "" "SEQ" "DNA" "" "" "0000108335" "00107866" "1" "01926" "01926" "2011-08-24 15:34:02" "" "" "SEQ" "DNA" "" "" "0000108336" "00107867" "1" "01926" "01926" "2011-08-30 14:03:48" "" "" "SEQ" "DNA" "" "" "0000108337" "00107868" "1" "01926" "01926" "2011-08-24 15:39:21" "" "" "SEQ" "DNA" "" "" "0000108338" "00107869" "1" "01926" "01926" "2011-08-30 14:03:48" "" "" "SEQ" "DNA" "" "" "0000108339" "00107870" "1" "01926" "01926" "2011-08-29 11:46:11" "" "" "SEQ" "DNA" "" "" "0000108340" "00107871" "1" "01926" "01926" "2011-08-29 11:55:19" "" "" "SEQ" "DNA" "" "" "0000108341" "00107872" "1" "01926" "01926" "2011-08-30 14:03:48" "" "" "SEQ" "DNA" "" "" "0000455039" "00453428" "1" "03544" "03544" "2024-08-26 08:57:23" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 15 "{{screeningid}}" "{{geneid}}" "0000108327" "FZD6" "0000108328" "FZD6" "0000108329" "FZD6" "0000108330" "FZD6" "0000108331" "FZD6" "0000108332" "FZD6" "0000108333" "FZD6" "0000108334" "FZD6" "0000108335" "FZD6" "0000108336" "FZD6" "0000108337" "FZD6" "0000108338" "FZD6" "0000108339" "FZD6" "0000108340" "FZD6" "0000108341" "FZD6" ## 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 = 30 "{{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}}" "0000174244" "0" "10" "8" "104342151" "104342151" "subst" "0.00170996" "01926" "FZD6_000007" "g.104342151G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103329923G>A" "" "benign" "" "0000174245" "0" "10" "8" "104342199" "104342199" "subst" "0.00169807" "01926" "FZD6_000008" "g.104342199T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103329971T>A" "" "benign" "" "0000174246" "0" "10" "8" "104343607" "104343607" "subst" "0.0134586" "01926" "FZD6_000009" "g.104343607C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103331379C>A" "" "benign" "" "0000174247" "0" "50" "8" "104336752" "104336752" "subst" "0.00160181" "01926" "FZD6_000006" "g.104336752C>T" "1/1278" "" "" "" "" "Germline" "" "" "0" "" "" "g.103324524C>T" "" "VUS" "" "0000174248" "0" "50" "8" "104337497" "104337497" "subst" "0.000211257" "01926" "FZD6_000005" "g.104337497C>A" "2/1278" "" "" "" "" "Germline" "" "" "0" "" "" "g.103325269C>A" "" "VUS" "" "0000174249" "0" "50" "8" "104342151" "104342151" "subst" "0.00170996" "01926" "FZD6_000007" "g.104342151G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103329923G>A" "" "VUS" "" "0000174250" "0" "50" "8" "104342151" "104342151" "subst" "0.00170996" "01926" "FZD6_000007" "g.104342151G>A" "1/1278" "" "" "" "" "Germline" "" "" "0" "" "" "g.103329923G>A" "" "VUS" "" "0000174251" "0" "50" "8" "104342199" "104342199" "subst" "0.00169807" "01926" "FZD6_000008" "g.104342199T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103329971T>A" "" "VUS" "" "0000174252" "0" "50" "8" "104342199" "104342199" "subst" "0.00169807" "01926" "FZD6_000008" "g.104342199T>A" "1/1278" "" "" "" "" "Germline" "" "" "0" "" "" "g.103329971T>A" "" "VUS" "" "0000174253" "0" "50" "8" "104343607" "104343607" "subst" "0.0134586" "01926" "FZD6_000009" "g.104343607C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103331379C>A" "" "VUS" "" "0000174254" "0" "50" "8" "104343607" "104343607" "subst" "0.0134586" "01926" "FZD6_000009" "g.104343607C>A" "2/1278" "" "" "" "" "Germline" "" "" "0" "" "" "g.103331379C>A" "" "VUS" "" "0000174255" "0" "70" "8" "104336752" "104336752" "subst" "0.00160181" "01926" "FZD6_000006" "g.104336752C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103324524C>T" "" "likely pathogenic" "" "0000174256" "0" "70" "8" "104336752" "104336752" "subst" "0.00160181" "01926" "FZD6_000006" "g.104336752C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103324524C>T" "" "likely pathogenic" "" "0000174257" "11" "70" "8" "104337548" "104337548" "subst" "0.00155609" "01926" "FZD6_000001" "g.104337548G>A" "" "" "" "" "not in 1278 control chromosomes" "Germline" "" "" "0" "" "" "g.103325320G>A" "" "likely pathogenic" "" "0000174258" "1" "70" "8" "104337548" "104337548" "subst" "0.00155609" "01926" "FZD6_000001" "g.104337548G>A" "" "" "" "" "not in 1278 control chromosomes" "Germline" "" "" "0" "" "" "g.103325320G>A" "" "likely pathogenic" "" "0000174259" "1" "70" "8" "104340634" "104340634" "subst" "8.13484E-6" "01926" "FZD6_000002" "g.104340634C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103328406C>T" "" "likely pathogenic" "" "0000174260" "21" "70" "8" "104340635" "104340635" "subst" "8.13703E-6" "01926" "FZD6_000003" "g.104340635G>A" "" "" "" "" "not in 1278 control chromosomes" "Germline" "" "" "0" "" "" "g.103328407G>A" "" "likely pathogenic" "" "0000174261" "11" "90" "8" "104337497" "104337497" "subst" "0.000211257" "01926" "FZD6_000005" "g.104337497C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.103325269C>A" "" "pathogenic" "" "0000174262" "1" "90" "8" "104342184" "104342185" "ins" "0" "01926" "FZD6_000004" "g.104342184_104342185insA" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.103329956_103329957insA" "" "pathogenic" "" "0000288016" "0" "50" "8" "104343611" "104343611" "subst" "0" "01943" "FZD6_000010" "g.104343611G>C" "" "" "" "FZD6(NM_003506.4):c.1995G>C (p.Q665H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.103331383G>C" "" "VUS" "" "0000533354" "0" "50" "8" "104330989" "104330989" "subst" "8.13564E-6" "01804" "FZD6_000011" "g.104330989T>C" "" "" "" "FZD6(NM_003506.4):c.349T>C (p.(Trp117Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103318761T>C" "" "VUS" "" "0000533355" "0" "50" "8" "104337712" "104337712" "subst" "0" "01804" "FZD6_000012" "g.104337712C>T" "" "" "" "FZD6(NM_001164615.1):c.1378C>T (p.(Pro460Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103325484C>T" "" "VUS" "" "0000611369" "0" "50" "8" "104337369" "104337369" "del" "0" "01804" "FZD6_000013" "g.104337369del" "" "" "" "FZD6(NM_001164615.1):c.1035del (p.(Met345IlefsTer43))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.103325141del" "" "VUS" "" "0000977967" "0" "30" "8" "104312381" "104312381" "subst" "0.00308238" "01804" "BAALC_000001" "g.104312381C>G" "" "" "" "FZD6(NM_003506.4):c.46C>G (p.(Leu16Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000977968" "0" "50" "8" "104337497" "104337497" "subst" "0.000211257" "01804" "FZD6_000005" "g.104337497C>A" "" "" "" "FZD6(NM_003506.4):c.1163C>A (p.(Ala388Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000977969" "0" "30" "8" "104342244" "104342244" "subst" "0.000365539" "01804" "FZD6_000014" "g.104342244G>A" "" "" "" "FZD6(NM_003506.4):c.1903G>A (p.(Gly635Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000990015" "0" "70" "8" "104336892" "104336892" "dup" "0" "03544" "FZD6_000015" "g.104336892dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.103324664dup" "" "likely pathogenic" "ACMG" "0000990016" "21" "90" "8" "104340628" "104340628" "subst" "1.21969E-5" "03544" "FZD6_000016" "g.104340628C>T" "" "" "" "" "" "Germline" "yes" "rs766284226" "0" "" "" "g.103328400C>T" "{CV:827757}" "pathogenic" "ACMG" "0001036671" "0" "50" "8" "104330930" "104330930" "subst" "0" "01804" "FZD6_000017" "g.104330930A>T" "" "" "" "FZD6(NM_003506.4):c.290A>T (p.(Lys97Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001053085" "0" "50" "8" "104337295" "104337295" "subst" "1.2188E-5" "01804" "FZD6_000018" "g.104337295G>A" "" "" "" "FZD6(NM_003506.4):c.961G>A (p.(Glu321Lys))" "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 FZD6 ## Count = 30 "{{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}}" "0000174244" "00024283" "10" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Arg)" "6" "0000174245" "00024283" "10" "1858" "0" "1858" "0" "c.1858T>A" "r.(?)" "p.(Ser620Thr)" "6" "0000174246" "00024283" "10" "1991" "0" "1991" "0" "c.1991C>A" "r.(?)" "p.(Ala664Glu)" "7" "0000174247" "00024283" "50" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(His140Tyr)" "4" "0000174248" "00024283" "50" "1163" "0" "1163" "0" "c.1163C>A" "r.(?)" "p.(Ala388Asp)" "4" "0000174249" "00024283" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Arg)" "6" "0000174250" "00024283" "50" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Gly604Arg)" "6" "0000174251" "00024283" "50" "1858" "0" "1858" "0" "c.1858T>A" "r.(?)" "p.(Ser620Thr)" "6" "0000174252" "00024283" "50" "1858" "0" "1858" "0" "c.1858T>A" "r.(?)" "p.(Ser620Thr)" "6" "0000174253" "00024283" "50" "1991" "0" "1991" "0" "c.1991C>A" "r.(?)" "p.(Ala664Glu)" "7" "0000174254" "00024283" "50" "1991" "0" "1991" "0" "c.1991C>A" "r.(?)" "p.(Ala664Glu)" "7" "0000174255" "00024283" "70" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(His140Tyr)" "4" "0000174256" "00024283" "70" "418" "0" "418" "0" "c.418C>T" "r.(?)" "p.(His140Tyr)" "4" "0000174257" "00024283" "70" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Gln)" "4" "0000174258" "00024283" "70" "1214" "0" "1214" "0" "c.1214G>A" "r.(?)" "p.(Arg405Gln)" "4" "0000174259" "00024283" "70" "1531" "0" "1531" "0" "c.1531C>T" "r.(?)" "p.(Arg511Cys)" "5" "0000174260" "00024283" "70" "1532" "0" "1532" "0" "c.1532G>A" "r.(?)" "p.(Arg511His)" "5" "0000174261" "00024283" "90" "1163" "0" "1163" "0" "c.1163C>A" "r.(?)" "p.(Ala388Asp)" "4" "0000174262" "00024283" "90" "1843" "0" "1844" "0" "c.1843_1844insA" "r.(?)" "p.(Cys615*)" "6" "0000288016" "00024283" "50" "1995" "0" "1995" "0" "c.1995G>C" "r.(?)" "p.(Gln665His)" "" "0000533354" "00024283" "50" "349" "0" "349" "0" "c.349T>C" "r.(?)" "p.(Trp117Arg)" "" "0000533355" "00024283" "50" "1378" "0" "1378" "0" "c.1378C>T" "r.(?)" "p.(Pro460Ser)" "" "0000611369" "00024283" "50" "1035" "0" "1035" "0" "c.1035del" "r.(?)" "p.(Met345IlefsTer43)" "" "0000977967" "00024283" "30" "46" "0" "46" "0" "c.46C>G" "r.(?)" "p.(Leu16Val)" "" "0000977968" "00024283" "50" "1163" "0" "1163" "0" "c.1163C>A" "r.(?)" "p.(Ala388Asp)" "" "0000977969" "00024283" "30" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Gly635Arg)" "" "0000990015" "00024283" "70" "558" "0" "558" "0" "c.558dup" "r.(?)" "p.(Asn187Glnfs*5)" "4" "0000990016" "00024283" "90" "1525" "0" "1525" "0" "c.1525C>T" "r.(?)" "p.(Arg509*)" "5" "0001036671" "00024283" "50" "290" "0" "290" "0" "c.290A>T" "r.(?)" "p.(Lys97Ile)" "" "0001053085" "00024283" "50" "961" "0" "961" "0" "c.961G>A" "r.(?)" "p.(Glu321Lys)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 21 "{{screeningid}}" "{{variantid}}" "0000108327" "0000174244" "0000108327" "0000174245" "0000108327" "0000174255" "0000108328" "0000174249" "0000108328" "0000174251" "0000108328" "0000174256" "0000108329" "0000174247" "0000108330" "0000174261" "0000108331" "0000174248" "0000108332" "0000174257" "0000108333" "0000174258" "0000108334" "0000174259" "0000108335" "0000174260" "0000108336" "0000174250" "0000108337" "0000174262" "0000108338" "0000174252" "0000108339" "0000174246" "0000108340" "0000174253" "0000108341" "0000174254" "0000455039" "0000990015" "0000455039" "0000990016"