### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = WNT5A) # 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}}" "WNT5A" "wingless-type MMTV integration site family, member 5A" "3" "p21-p14" "unknown" "NG_031992.1" "UD_136095314622" "" "https://www.LOVD.nl/WNT5A" "" "1" "12784" "7474" "164975" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/WNT5A_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-04-01 15:33:09" "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}}" "00022857" "WNT5A" "transcript variant 1" "001" "NM_003392.4" "" "NP_003383.2" "" "" "" "-657" "5520" "1143" "55521670" "55499743" "" "0000-00-00 00:00:00" "" "" ## 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" "00180" "RRS" "Robinow syndrome, autosomal recessive (RRS)" "AD" "" "" "" "" "00115" "2013-08-28 18:26:52" "00006" "2021-12-10 21:51:32" "00577" "DRS" "Robinow syndrome, autosomal dominant (DRS)" "AD" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05847" "DRS1" "Robinow, autosomal dominant syndrome, type 1 (DRS1)" "AD" "180700" "" "" "" "00006" "2020-09-29 15:41:47" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "WNT5A" "00139" "WNT5A" "00577" "WNT5A" "05847" ## Individuals ## Do not remove or alter this header ## ## Count = 9 "{{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}}" "00132975" "" "" "" "2" "" "00006" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "2-genertion family, heterozygous carrier father" "F" "" "" "" "0" "" "" "" "29100090-FamDC14" "00311870" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "M" "" "" "" "0" "" "" "" "BAB9138/BH9278_1" "00311871" "" "" "" "1" "" "00006" "{PMID:White 2018:29276006}" "patient" "F" "" "" "" "0" "" "" "" "BAB9131/BH9276_1" "00311876" "" "" "" "2" "" "00006" "{PMID:Roifman 2015:24716670}" "3-generation family, affected mother/son" "F;M" "" "Germany;Italy;United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1" "00311877" "" "" "" "1" "" "00006" "{PMID:Roifman 2015:24716670}" "" "M" "" "Netherlands;Spain" "" "0" "" "" "" "Fam2" "00311878" "" "" "" "3" "" "00006" "{PMID:Roifman 2015:24716670}" "family, 3 affected" "F" "" "Turkey" "" "0" "" "" "" "Fam3" "00311879" "" "" "" "8" "" "00006" "{PMID:Person 2010:19918918}" "5-generation family, 8 affected (5F, 3M)" "F;M" "" "United States" "" "0" "" "" "" "family" "00311880" "" "" "" "1" "" "00006" "{PMID:Person 2010:19918918}" "2-generation family, 1 affected, unaffected parents" "" "" "United States" "" "0" "" "" "" "Pat2" "00435228" "" "" "" "1" "" "03820" "{PMID:Goitia-Cárdenas:36917807}" "" "M" "no" "" "" "0" "" "" "" "Pat1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 9 "{{individualid}}" "{{diseaseid}}" "00132975" "05342" "00311870" "00180" "00311871" "00180" "00311876" "00577" "00311877" "00577" "00311878" "00577" "00311879" "00577" "00311880" "00577" "00435228" "05847" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00180, 00577, 05342, 05847 ## Count = 9 "{{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}}" "0000105736" "05342" "00132975" "00006" "Unknown" "" "CAKUT, renal agenesis left" "" "" "" "" "" "" "" "" "" "0000237118" "00180" "00311870" "00006" "Familial, autosomal dominant" "07y" "short stature (-4.25 SD), telecanthus, hypertelorism, frontal bossing, prominent eyes, anteverted nares, wide depressed nasal bridge, midface hypoplasia, smooth philtrum, wide mouth, bilobed tongue, gingival hyperplasia, microretrognatia, low-set ears; mesomelic limb shortening and fingers, toes very broad and short, nails dysplastic; surgery to remove Y-shaped duplication bilateral thumbs and great toes; buried penis, cryptorchidism, sacral dimple; radiography hemivertebrae (T6, T7, T13); early motor milestones delayed, present cognitive development normal" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000237119" "00180" "00311871" "00006" "Familial, autosomal dominant" "17y" "see paper; ..., infancy slow linear growth, acromesomelia, hypertelorism, prominent forehead" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000237125" "00577" "00311876" "00006" "Familial, autosomal dominant" "" "see paper; ..., mesomelic short stature, limb shortening, malar hypoplasia, hypertelorism, short flat nose, low set ears, limited suppination, persistent primary teeth, brachydactyly, bilateral cryptorchidism, genital hypoplasia (1/2); radiography short long bones, bilateral radial head dislocation" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000237126" "00577" "00311877" "00006" "Isolated (sporadic)" "" "see paper; ..., short stature with limb shortening, hypertelorism, short flat nose, brachydactyly, bilateral cryptorchidism, genital hypoplasia" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000237127" "00577" "00311878" "00006" "Familial, autosomal dominant" "" "see paper; ..., short stature, mesomelic limb shortening, brachydactyly, large anterior fontanel, hypertelorism, prominent eyes, bilateral epicanthic folds, wide down‐slanting palpebral fissures, flat midface, short upturned nose, broad nasal bridge, anteverted nares, long philtrum, gingival hyperplasia, short oral frenulum, posteriorly rotated ears, micrognathia., genital hypoplasia, sacral dimple, hairy sacral patch; radiography short long bones" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000237128" "00577" "00311879" "00006" "Familial, autosomal dominant" "" "see paper; ..., short stature, mesomelic limb shortening, hypertelorism, mandibular hypoplasia, irregular dental alignment, genital hypoplasia; radiography short long bones" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000237129" "00577" "00311880" "00006" "Isolated (sporadic)" "" "hypertelorism, short nose, short stature, mesomelic shortening limbs" "" "" "" "" "" "" "" "DRS1" "Robinow syndrome" "0000325427" "05847" "00435228" "03820" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "Robinow syndrome" "" ## Screenings ## Do not remove or alter this header ## ## Count = 9 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000133809" "00132975" "1" "00006" "00006" "2017-11-11 21:33:23" "" "" "SEQ" "DNA" "" "WES" "0000313042" "00311870" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313043" "00311871" "1" "00006" "00006" "2020-09-29 16:10:21" "" "" "SEQ" "DNA" "" "" "0000313048" "00311876" "1" "00006" "00006" "2020-09-29 20:35:25" "" "" "SEQ" "DNA" "" "" "0000313049" "00311877" "1" "00006" "00006" "2020-09-29 20:40:12" "" "" "SEQ" "DNA" "" "" "0000313050" "00311878" "1" "00006" "00006" "2020-09-29 20:46:07" "" "" "SEQ" "DNA" "" "" "0000313051" "00311879" "1" "00006" "00006" "2020-09-29 20:56:14" "" "" "SEQ" "DNA" "" "" "0000313052" "00311880" "1" "00006" "00006" "2020-09-29 21:03:34" "" "" "SEQ" "DNA" "" "" "0000436706" "00435228" "1" "03820" "03820" "2023-06-19 09:32:47" "" "" "SEQ-NG-I" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000133809" "WNT5A" "0000313042" "WNT5A" "0000313043" "WNT5A" "0000313048" "WNT5A" "0000313049" "WNT5A" "0000313050" "WNT5A" "0000313051" "WNT5A" "0000313052" "WNT5A" ## 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 = 29 "{{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}}" "0000223237" "21" "70" "3" "55513408" "55513408" "subst" "0" "00006" "WNT5A_000001" "g.55513408G>A" "" "{PMID:Sanna-Cherchi 2017:29100090}, {DOI:Sanna-Cherchi 2017:10.1016/j.ajhg.2017.09.018}" "" "" "" "Germline" "" "" "0" "" "" "g.55479380G>A" "" "likely pathogenic" "" "0000338390" "0" "10" "3" "55513331" "55513331" "subst" "0.00239345" "02327" "WNT5A_000006" "g.55513331T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55479303T>C" "" "benign" "" "0000340239" "0" "30" "3" "55508461" "55508461" "subst" "0.00349164" "02327" "WNT5A_000003" "g.55508461G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55474433G>A" "" "likely benign" "" "0000344448" "0" "70" "3" "55513528" "55513528" "subst" "0" "02327" "WNT5A_000008" "g.55513528A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55479500A>C" "" "likely pathogenic" "" "0000344449" "0" "90" "3" "55513527" "55513527" "subst" "0" "02327" "WNT5A_000007" "g.55513527C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55479499C>T" "" "pathogenic" "" "0000350510" "0" "50" "3" "55504170" "55504170" "subst" "0" "02327" "WNT5A_000002" "g.55504170C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55470142C>T" "" "VUS" "" "0000520461" "0" "50" "3" "55504452" "55504452" "subst" "0" "01804" "WNT5A_000009" "g.55504452C>G" "" "" "" "WNT5A(NM_001256105.1):c.766G>C (p.(Asp256His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55470424C>G" "" "VUS" "" "0000520462" "0" "50" "3" "55508519" "55508519" "subst" "0" "02327" "WNT5A_000010" "g.55508519C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55474491C>G" "" "VUS" "" "0000520464" "0" "70" "3" "55513486" "55513486" "subst" "0" "02327" "WNT5A_000012" "g.55513486A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55479458A>G" "" "likely pathogenic" "" "0000520466" "0" "30" "3" "55513600" "55513600" "subst" "0.000232709" "01804" "WNT5A_000014" "g.55513600G>C" "" "" "" "WNT5A(NM_001256105.1):c.96-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55479572G>C" "" "likely benign" "" "0000520467" "0" "30" "3" "55514843" "55514843" "subst" "0.000271876" "01804" "WNT5A_000015" "g.55514843G>C" "" "" "" "WNT5A(NM_001256105.1):c.65C>G (p.(Ala22Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55480815G>C" "" "likely benign" "" "0000520468" "0" "30" "3" "55514933" "55514933" "subst" "9.5511E-6" "01804" "WNT5A_000016" "g.55514933A>G" "" "" "" "WNT5A(NM_001256105.1):c.-26T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55480905A>G" "" "likely benign" "" "0000608832" "0" "50" "3" "55508622" "55508622" "subst" "0" "01804" "WNT5A_000017" "g.55508622C>A" "" "" "" "WNT5A(NM_001256105.1):c.382G>T (p.(Ala128Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55474594C>A" "" "VUS" "" "0000694768" "0" "90" "3" "55508570" "55508570" "subst" "0" "00006" "WNT5A_000021" "g.55508570G>C" "" "{PMID:White 2018:29276006}" "" "" "" "Germline" "" "" "0" "" "" "g.55474542G>C" "" "pathogenic (dominant)" "" "0000694769" "0" "90" "3" "55508561" "55508566" "dup" "0" "00006" "WNT5A_000005" "g.55508561_55508566dup" "" "{PMID:White 2018:29276006}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.55474533_55474538dup" "" "pathogenic (dominant)" "" "0000694775" "21" "90" "3" "55513476" "55513476" "subst" "0" "00006" "WNT5A_000018" "g.55513476T>C" "" "{PMID:Roifman 2015:24716670}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694776" "0" "90" "3" "55513527" "55513527" "subst" "0" "00006" "WNT5A_000007" "g.55513527C>T" "" "{PMID:Roifman 2015:24716670}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694777" "11" "90" "3" "55513476" "55513476" "subst" "0" "00006" "WNT5A_000018" "g.55513476T>C" "" "{PMID:Roifman 2015:24716670}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694779" "1" "90" "3" "55508505" "55508506" "delins" "0" "00006" "WNT5A_000019" "g.55508505_55508506delinsGA" "" "{PMID:Person 2010:19918918}" "" "544–545CT>TC (C182R)" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000694780" "0" "90" "3" "55513485" "55513485" "subst" "0" "00006" "WNT5A_000020" "g.55513485C>G" "" "{PMID:Person 2010:19918918}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "" "0000911983" "0" "30" "3" "55504577" "55504577" "subst" "0" "02325" "WNT5A_000022" "g.55504577G>A" "" "" "" "WNT5A(NM_003392.7):c.686C>T (p.T229M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927828" "21" "77" "3" "55508559" "55508559" "subst" "0" "03820" "WNT5A_000023" "g.55508559A>G" "" "{PMID:Goitia-Cárdenas:36917807}" "" "" "inherited from affected mother" "Germline" "" "" "0" "" "" "g.55474531A>G" "" "pathogenic (recessive)" "" "0000975944" "0" "50" "3" "55514932" "55514932" "subst" "0" "02325" "WNT5A_000024" "g.55514932T>C" "" "" "" "WNT5A(NM_003392.7):c.21A>G (p.I7M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993834" "0" "30" "3" "55504461" "55504461" "subst" "8.25035E-6" "01804" "WNT5A_000025" "g.55504461C>G" "" "" "" "WNT5A(NM_003392.4):c.802G>C (p.(Glu268Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993835" "0" "30" "3" "55508601" "55508601" "subst" "2.99784E-5" "01804" "WNT5A_000026" "g.55508601T>C" "" "" "" "WNT5A(NM_003392.4):c.448A>G (p.(Met150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993836" "0" "30" "3" "55513456" "55513456" "subst" "3.24918E-5" "01804" "WNT5A_000027" "g.55513456T>C" "" "" "" "WNT5A(NM_003392.4):c.277A>G (p.(Ile93Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001034101" "0" "50" "3" "55508585" "55508585" "subst" "0" "01804" "WNT5A_000028" "g.55508585C>T" "" "" "" "WNT5A(NM_003392.7):c.464G>A (p.(Arg155His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001034102" "0" "50" "3" "55514838" "55514838" "subst" "1.04244E-5" "01804" "WNT5A_000029" "g.55514838C>G" "" "" "" "WNT5A(NM_003392.7):c.115G>C (p.(Val39Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051370" "0" "50" "3" "55508427" "55508427" "subst" "1.24273E-5" "01804" "WNT5A_000030" "g.55508427T>C" "" "" "" "WNT5A(NM_003392.7):c.622A>G (p.(Lys208Glu))" "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 WNT5A ## Count = 29 "{{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}}" "0000223237" "00022857" "70" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Arg109*)" "" "0000338390" "00022857" "10" "391" "11" "391" "11" "c.391+11A>G" "r.(=)" "p.(=)" "" "0000340239" "00022857" "30" "588" "0" "588" "0" "c.588C>T" "r.(?)" "p.(Phe196=)" "" "0000344448" "00022857" "70" "205" "0" "205" "0" "c.205T>G" "r.(?)" "p.(Cys69Gly)" "" "0000344449" "00022857" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Cys69Tyr)" "" "0000350510" "00022857" "50" "1093" "0" "1093" "0" "c.1093G>A" "r.(?)" "p.(Val365Ile)" "" "0000520461" "00022857" "50" "811" "0" "811" "0" "c.811G>C" "r.(?)" "p.(Asp271His)" "" "0000520462" "00022857" "50" "530" "0" "530" "0" "c.530G>C" "r.(?)" "p.(Trp177Ser)" "" "0000520464" "00022857" "70" "247" "0" "247" "0" "c.247T>C" "r.(?)" "p.(Cys83Arg)" "" "0000520466" "00022857" "30" "141" "-8" "141" "-8" "c.141-8C>G" "r.(=)" "p.(=)" "" "0000520467" "00022857" "30" "110" "0" "110" "0" "c.110C>G" "r.(?)" "p.(Ala37Gly)" "" "0000520468" "00022857" "30" "20" "0" "20" "0" "c.20T>C" "r.(?)" "p.(Ile7Thr)" "" "0000608832" "00022857" "50" "427" "0" "427" "0" "c.427G>T" "r.(?)" "p.(Ala143Ser)" "" "0000694768" "00022857" "90" "479" "0" "479" "0" "c.479C>G" "r.(?)" "p.(Ser160Cys)" "" "0000694769" "00022857" "90" "487" "0" "492" "0" "c.487_492dup" "r.(?)" "p.(Gly163_Cys164dup)" "" "0000694775" "00022857" "90" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Tyr86Cys)" "" "0000694776" "00022857" "90" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Cys69Tyr)" "" "0000694777" "00022857" "90" "257" "0" "257" "0" "c.257A>G" "r.(?)" "p.(Tyr86Cys)" "" "0000694779" "00022857" "90" "543" "0" "544" "0" "c.543_544delinsTC" "r.(?)" "p.(Cys182Arg)" "" "0000694780" "00022857" "90" "248" "0" "248" "0" "c.248G>C" "r.(?)" "p.(Cys83Ser)" "" "0000911983" "00022857" "30" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Thr229Met)" "" "0000927828" "00022857" "77" "490" "0" "490" "0" "c.490T>C" "r.(?)" "p.(Cys164Arg)" "4" "0000975944" "00022857" "50" "21" "0" "21" "0" "c.21A>G" "r.(?)" "p.(Ile7Met)" "" "0000993834" "00022857" "30" "802" "0" "802" "0" "c.802G>C" "r.(?)" "p.(Glu268Gln)" "" "0000993835" "00022857" "30" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Met150Val)" "" "0000993836" "00022857" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Ile93Val)" "" "0001034101" "00022857" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0001034102" "00022857" "50" "115" "0" "115" "0" "c.115G>C" "r.(?)" "p.(Val39Leu)" "" "0001051370" "00022857" "50" "622" "0" "622" "0" "c.622A>G" "r.(?)" "p.(Lys208Glu)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{variantid}}" "0000133809" "0000223237" "0000313042" "0000694768" "0000313043" "0000694769" "0000313048" "0000694775" "0000313049" "0000694776" "0000313050" "0000694777" "0000313051" "0000694779" "0000313052" "0000694780" "0000436706" "0000927828"