### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = B9D2) # 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}}" "B9D2" "B9 protein domain 2" "19" "q13.2" "unknown" "NG_013091.1" "UD_132084455804" "" "https://www.LOVD.nl/B9D2" "" "1" "28636" "80776" "611951" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/B9D2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-05-07 07:51:27" "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}}" "00003235" "B9D2" "B9 protein domain 2" "001" "NM_030578.3" "" "NP_085055.2" "" "" "" "-220" "811" "528" "41870078" "41860322" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "01021" "MKS10;JBTS34" "Meckel syndrome, type 10 (MKS10, incl. Joubert syndrome 3434)" "" "614175" "" "" "" "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" "05109" "JBTS" "Joubert syndrome (JBTS)" "" "" "" "" "" "00006" "2016-01-09 00:37:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "B9D2" "00139" "B9D2" "01021" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00372101" "" "" "" "1" "" "00006" "{PMID:Bachmann-Gagescu 2015:26092869}" "family" "" "" "" "" "0" "" "" "" "UW284-3" "00372102" "" "" "" "1" "" "00006" "{PMID:Bachmann-Gagescu 2015:26092869}" "family" "" "" "" "" "0" "" "" "" "UW309-3" "00372104" "" "" "" "2" "" "00006" "{PMID:Dowdle 2011:21763481}" "6-generation family, 2 affected fetuses, unaffected heterozygous carrier parents/relatives" "" "yes" "Suriname" "" "0" "" "" "India;Pakistan" "family" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00372101" "04214" "00372102" "04214" "00372104" "05109" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 01021, 04214, 05109 ## Count = 3 "{{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}}" "0000267422" "04214" "00372101" "00006" "Familial, autosomal recessive" "" "molar tooth sign; normal kidney; no coloboma; foramen magnum encephalocele; polydactyly; cCleft palate, tongue tumors; tibial and fibular mesomelic dysplasia; shunted hydrocephalus, seizures, interpeduncular heterotopia; small palpebral fissures; poor pupillary response to light, normal optic\r\ndisks; micropenis, hearing loss, patent ductus arteriosus" "" "" "" "" "" "" "" "JBTS34" "Joubert symdrome" "0000267423" "04214" "00372102" "00006" "Familial, autosomal recessive" "" "molar tooth sign; normal kidney; normal liver; no coloboma; encephalocele; polydactyly; seizures, EEG abnormal; frontal bossing, epicanthus, dysplastic ears, down turned corners of mouth, retrognathia, ptosis, right eye exotropia; hypospadias" "" "" "" "" "" "" "" "JBTS34" "Joubert symdrome" "0000267425" "05109" "00372104" "00006" "Familial, autosomal recessive" "" "see paper; ..., occipital encephalocele, postaxial polydactyly hands and feet, renal cysts, hepatic ductal plate malformations; anencephaly (1/2 fetuses)" "" "" "" "" "" "" "" "MKS10" "Meckel syndrome" ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000373330" "00372101" "1" "00006" "00006" "2021-05-07 07:56:52" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373331" "00372102" "1" "00006" "00006" "2021-05-07 08:01:55" "" "" "SEQ" "DNA" "" "27-gene panel" "0000373333" "00372104" "1" "00006" "00006" "2021-05-07 08:21:51" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000373330" "B9D2" "0000373331" "B9D2" "0000373333" "B9D2" ## 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 = 34 "{{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}}" "0000259224" "0" "10" "19" "41869392" "41869392" "subst" "0.643702" "02325" "B9D2_000002" "g.41869392T>C" "" "" "" "B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41363487T>C" "" "benign" "" "0000263500" "0" "30" "19" "41863821" "41863821" "subst" "0.00203085" "01943" "B9D2_000001" "g.41863821G>A" "" "" "" "B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41357916G>A" "" "likely benign" "" "0000263501" "0" "10" "19" "41869392" "41869392" "subst" "0.643702" "01943" "B9D2_000002" "g.41869392T>C" "" "" "" "B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41363487T>C" "" "benign" "" "0000311809" "0" "10" "19" "41858921" "41858921" "subst" "0.551655" "02325" "TGFB1_000008" "g.41858921G>A" "" "" "" "TGFB1(NM_000660.7):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41353016G>A" "" "benign" "" "0000326520" "0" "50" "19" "41858744" "41858744" "subst" "2.37767E-5" "01804" "TGFB1_000007" "g.41858744G>A" "" "" "" "TGFB1(NM_000660.4):c.206C>T (p.(Pro69Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41352839G>A" "" "VUS" "" "0000338060" "0" "10" "19" "41860587" "41860587" "subst" "0.0625296" "02327" "B9D2_000003" "g.41860587C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41354682C>T" "" "benign" "" "0000346559" "0" "10" "19" "41869392" "41869392" "subst" "0.643702" "02327" "B9D2_000002" "g.41869392T>C" "" "" "" "B9D2(NM_030578.3):c.33A>G (p.I11M), B9D2(NM_030578.4):c.33A>G (p.I11M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41363487T>C" "" "benign" "" "0000348133" "0" "10" "19" "41858921" "41858921" "subst" "0.551655" "02327" "TGFB1_000008" "g.41858921G>A" "" "" "" "TGFB1(NM_000660.7):c.29C>T (p.P10L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.41353016G>A" "" "benign" "" "0000567433" "0" "90" "19" "41854250" "41854250" "subst" "0" "02329" "B9D2_000004" "g.41854250G>A" "" "" "" "TGFB1(NM_000660.7):c.466C>T (p.R156C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41348345G>A" "" "pathogenic" "" "0000567434" "0" "30" "19" "41858876" "41858876" "subst" "0.0562517" "01804" "TGFB1_000010" "g.41858876C>G" "" "" "" "TGFB1(NM_000660.4):c.74G>C (p.(Arg25Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41352971C>G" "" "likely benign" "" "0000658577" "0" "30" "19" "41858602" "41858602" "subst" "0.00289376" "01943" "B9D2_000005" "g.41858602G>A" "" "" "" "TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.41352697G>A" "" "likely benign" "" "0000727377" "0" "30" "19" "41858602" "41858602" "subst" "0.00289376" "02326" "B9D2_000005" "g.41858602G>A" "" "" "" "TGFB1(NM_000660.6):c.348C>T (p.T116=), TGFB1(NM_000660.7):c.348C>T (p.T116=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000783306" "21" "70" "19" "41860670" "41860670" "subst" "4.06851E-6" "00006" "B9D2_000006" "g.41860670C>T" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000783307" "11" "70" "19" "41860913" "41860913" "subst" "0" "00006" "B9D2_000007" "g.41860913G>A" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "Pro74Ser" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000783309" "3" "70" "19" "41863909" "41863909" "subst" "1.2192E-5" "00006" "B9D2_000008" "g.41863909A>G" "" "{PMID:Bachmann-Gagescu 2015:26092869}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000783311" "3" "90" "19" "41860832" "41860832" "subst" "8.32681E-6" "00006" "B9D2_000009" "g.41860832T>G" "" "{PMID:Dowdle 2011:21763481}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000808881" "0" "50" "19" "41854294" "41854294" "subst" "5.68606E-5" "01943" "B9D2_000010" "g.41854294C>T" "" "" "" "TGFB1(NM_000660.6):c.422G>A (p.R141Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808882" "0" "30" "19" "41858590" "41858590" "subst" "0.00213124" "01804" "B9D2_000011" "g.41858590C>T" "" "" "" "TGFB1(NM_000660.4):c.355+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000808883" "0" "50" "19" "41860649" "41860649" "subst" "5.69643E-5" "01943" "B9D2_000012" "g.41860649C>A" "" "" "" "B9D2(NM_030578.3):c.484G>T (p.G162C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808884" "0" "50" "19" "41860760" "41860760" "subst" "1.63775E-5" "01943" "B9D2_000013" "g.41860760G>A" "" "" "" "B9D2(NM_030578.3):c.373C>T (p.R125W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000808885" "0" "30" "19" "41863821" "41863821" "subst" "0.00203085" "02326" "B9D2_000001" "g.41863821G>A" "" "" "" "B9D2(NM_030578.3):c.195C>T (p.F65=), B9D2(NM_030578.4):c.195C>T (p.F65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855594" "0" "30" "19" "41863937" "41863937" "subst" "1.62843E-5" "01943" "B9D2_000015" "g.41863937G>A" "" "" "" "B9D2(NM_030578.3):c.89-10C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000866137" "0" "30" "19" "41860701" "41860701" "subst" "3.25722E-5" "02326" "B9D2_000014" "g.41860701G>A" "" "" "" "B9D2(NM_030578.4):c.432C>T (p.A144=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000895008" "0" "50" "19" "41858864" "41858864" "subst" "0.000308257" "01804" "B9D2_000016" "g.41858864C>T" "" "" "" "TGFB1(NM_000660.4):c.86G>A (p.(Gly29Glu)), TGFB1(NM_000660.7):c.86G>A (p.G29E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000895009" "0" "30" "19" "41858892" "41858892" "subst" "1.51442E-5" "01804" "B9D2_000017" "g.41858892C>G" "" "" "" "TGFB1(NM_000660.4):c.58G>C (p.(Val20Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915233" "0" "30" "19" "41863833" "41863833" "subst" "0.000349287" "02326" "B9D2_000018" "g.41863833G>A" "" "" "" "B9D2(NM_030578.4):c.183C>T (p.I61=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000915234" "0" "50" "19" "41893466" "41893466" "subst" "6.90751E-5" "02325" "B9D2_000019" "g.41893466G>A" "" "" "" "EXOSC5(NM_020158.4):c.568C>T (p.R190W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931061" "0" "50" "19" "41858864" "41858864" "subst" "0.000308257" "02325" "B9D2_000016" "g.41858864C>T" "" "" "" "TGFB1(NM_000660.4):c.86G>A (p.(Gly29Glu)), TGFB1(NM_000660.7):c.86G>A (p.G29E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000951298" "0" "30" "19" "41860934" "41860934" "subst" "0.00295199" "02326" "B9D2_000020" "g.41860934G>C" "" "" "" "B9D2(NM_030578.4):c.215-16C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000951299" "0" "30" "19" "41889499" "41889499" "subst" "6.09375E-5" "01804" "B9D2_000021" "g.41889499G>A" "" "" "" "TMEM91(NM_001042595.2):c.394G>A (p.(Val132Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004795" "0" "30" "19" "41854317" "41854317" "subst" "6.90473E-5" "01804" "B9D2_000022" "g.41854317C>T" "" "" "" "TGFB1(NM_000660.4):c.399G>A (p.(Met133Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004796" "0" "70" "19" "41892591" "41892591" "del" "0" "01804" "B9D2_000023" "g.41892591del" "" "" "" "EXOSC5(NM_020158.3):c.655delC (p.(His219fs))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001042980" "0" "50" "19" "41858694" "41858694" "subst" "2.53188E-5" "01804" "B9D2_000024" "g.41858694C>A" "" "" "" "TGFB1(NM_000660.7):c.256G>T (p.(Asp86Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001042981" "0" "50" "19" "41858865" "41858865" "subst" "4.99793E-5" "01804" "B9D2_000025" "g.41858865C>T" "" "" "" "TGFB1(NM_000660.7):c.85G>A (p.(Gly29Arg))" "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 B9D2 ## Count = 34 "{{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}}" "0000259224" "00003235" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Ile11Met)" "" "0000263500" "00003235" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Phe65=)" "" "0000263501" "00003235" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Ile11Met)" "" "0000311809" "00003235" "10" "2212" "0" "2212" "0" "c.*1684C>T" "r.(=)" "p.(=)" "" "0000326520" "00003235" "50" "2389" "0" "2389" "0" "c.*1861C>T" "r.(=)" "p.(=)" "" "0000338060" "00003235" "10" "546" "0" "546" "0" "c.*18G>A" "r.(=)" "p.(=)" "" "0000346559" "00003235" "10" "33" "0" "33" "0" "c.33A>G" "r.(?)" "p.(Ile11Met)" "" "0000348133" "00003235" "10" "2212" "0" "2212" "0" "c.*1684C>T" "r.(=)" "p.(=)" "" "0000567433" "00003235" "90" "6883" "0" "6883" "0" "c.*6355C>T" "r.(=)" "p.(=)" "" "0000567434" "00003235" "30" "2257" "0" "2257" "0" "c.*1729G>C" "r.(=)" "p.(=)" "" "0000658577" "00003235" "30" "2531" "0" "2531" "0" "c.*2003C>T" "r.(=)" "p.(=)" "" "0000727377" "00003235" "30" "2531" "0" "2531" "0" "c.*2003C>T" "r.(=)" "p.(=)" "" "0000783306" "00003235" "70" "463" "0" "463" "0" "c.463G>A" "r.(?)" "p.(Gly155Ser)" "" "0000783307" "00003235" "70" "220" "0" "220" "0" "c.220C>T" "r.(?)" "p.(Pro74Ser)" "" "0000783309" "00003235" "70" "107" "0" "107" "0" "c.107T>C" "r.(?)" "p.(Leu36Pro)" "" "0000783311" "00003235" "90" "301" "0" "301" "0" "c.301A>C" "r.(?)" "p.(Ser101Arg)" "" "0000808881" "00003235" "50" "6839" "0" "6839" "0" "c.*6311G>A" "r.(=)" "p.(=)" "" "0000808882" "00003235" "30" "2543" "0" "2543" "0" "c.*2015G>A" "r.(=)" "p.(=)" "" "0000808883" "00003235" "50" "484" "0" "484" "0" "c.484G>T" "r.(?)" "p.(Gly162Cys)" "" "0000808884" "00003235" "50" "373" "0" "373" "0" "c.373C>T" "r.(?)" "p.(Arg125Trp)" "" "0000808885" "00003235" "30" "195" "0" "195" "0" "c.195C>T" "r.(?)" "p.(Phe65=)" "" "0000855594" "00003235" "30" "89" "-10" "89" "-10" "c.89-10C>T" "r.(=)" "p.(=)" "" "0000866137" "00003235" "30" "432" "0" "432" "0" "c.432C>T" "r.(?)" "p.(Ala144=)" "" "0000895008" "00003235" "50" "2269" "0" "2269" "0" "c.*1741G>A" "r.(=)" "p.(=)" "" "0000895009" "00003235" "30" "2241" "0" "2241" "0" "c.*1713G>C" "r.(=)" "p.(=)" "" "0000915233" "00003235" "30" "183" "0" "183" "0" "c.183C>T" "r.(?)" "p.(Ile61=)" "" "0000915234" "00003235" "50" "-23608" "0" "-23608" "0" "c.-23608C>T" "r.(?)" "p.(=)" "" "0000931061" "00003235" "50" "2269" "0" "2269" "0" "c.*1741G>A" "r.(=)" "p.(=)" "" "0000951298" "00003235" "30" "215" "-16" "215" "-16" "c.215-16C>G" "r.(=)" "p.(=)" "" "0000951299" "00003235" "30" "-19641" "0" "-19641" "0" "c.-19641C>T" "r.(?)" "p.(=)" "" "0001004795" "00003235" "30" "6816" "0" "6816" "0" "c.*6288G>A" "r.(=)" "p.(=)" "" "0001004796" "00003235" "70" "-22733" "0" "-22733" "0" "c.-22733del" "r.(?)" "p.(=)" "" "0001042980" "00003235" "50" "2439" "0" "2439" "0" "c.*1911G>T" "r.(=)" "p.(=)" "" "0001042981" "00003235" "50" "2268" "0" "2268" "0" "c.*1740G>A" "r.(=)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{variantid}}" "0000373330" "0000783306" "0000373330" "0000783307" "0000373331" "0000783309" "0000373333" "0000783311"