### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CAV1) # 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}}" "CAV1" "caveolin 1, caveolae protein, 22kDa" "7" "q31" "unknown" "NC_000007.13" "UD_132118756233" "" "https://www.LOVD.nl/CAV1" "" "1" "1527" "857" "601047" "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/CAV1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2024-06-28 14:53:09" "00000" "2025-07-08 13:22:38" ## 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}}" "00004405" "CAV1" "transcript variant 1" "001" "NM_001753.4" "" "NP_001744.2" "" "" "" "-278" "2435" "537" "116164839" "116201239" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00296" "CTRCT" "cataract (CTRCT)" "" "" "" "" "" "00006" "2014-01-16 08:42:13" "00006" "2015-03-07 14:30:33" "02598" "FPLD7" "lipodystrophy, familial partial, type 7" "AD" "606721" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "03145" "CGL3" "lipodystrophy, congenital generalized, type 3" "AR" "612526" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-06-28 14:53:44" "03898" "PPH3" "hypertension, pulmonary, primary, type 3" "AD" "615343" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-06-28 14:54:29" "04203" "ATFB" "fibrillation, atrial (ATFB)" "" "" "" "" "" "00006" "2015-02-20 20:57:29" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CAV1" "02598" "CAV1" "03145" "CAV1" "03898" ## Individuals ## Do not remove or alter this header ## ## Count = 12 "{{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}}" "00446451" "" "" "" "3" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, affected father/daughter" "F" "" "China" "" "0" "" "" "" "Fam43Pat115" "00446452" "" "" "00446451" "1" "" "00006" "{PMID:Liu 2023:37337769}" "sister" "F" "" "China" "" "0" "" "" "" "Fam43Pat117" "00446453" "" "" "00446451" "1" "" "00006" "{PMID:Liu 2023:37337769}" "father" "M" "" "China" "" "0" "" "" "" "Fam43Pat118" "00448220" "" "" "" "1" "" "00006" "{PMID:Poli 2024:38177409}" "" "F" "" "Chile" "" "0" "" "" "" "Pat106" "00451683" "" "" "" "1" "" "03287" "" "" "?" "-" "Germany" "" "" "" "" "" "" "00451685" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" "00451688" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" "00451689" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" "00451690" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" "00451691" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" "00451692" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" "00451693" "" "" "" "1" "" "03287" "" "" "?" "?" "Germany" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 12 "{{individualid}}" "{{diseaseid}}" "00446451" "00296" "00446452" "00000" "00446453" "00296" "00448220" "00198" "00451683" "04203" "00451685" "04203" "00451688" "04203" "00451689" "04203" "00451690" "04203" "00451691" "04203" "00451692" "04203" "00451693" "04203" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00296, 02598, 03145, 03898, 04203 ## 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}}" "0000335672" "00296" "00446451" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000335673" "00296" "00446453" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000337430" "00198" "00448220" "00006" "Familial, autosomal dominant" "31y" "short stature; polycystic ovaries; reduced subcutaneous adipose tissue; hearing impairment; scoliosis; dysmorphic facial features" "" "" "" "" "" "" "" "" "" "rare disorder" "" "0000340342" "04203" "00451683" "03287" "Unknown" "" "" "" "<60y" "" "" "" "" "" "" "" "" "" "0000340344" "04203" "00451685" "03287" "Unknown" "" "" "" "<60y" "" "" "" "" "" "" "" "" "" "0000340348" "04203" "00451688" "03287" "Unknown" "" "" "<60y" "" "" "" "" "" "" "" "" "" "" "0000340349" "04203" "00451689" "03287" "Unknown" "" "" "<60y" "" "" "" "" "" "" "" "" "" "" "0000340350" "04203" "00451690" "03287" "Unknown" "" "" "" "<60y" "" "" "" "" "" "" "" "" "" "0000340351" "04203" "00451691" "03287" "Unknown" "" "" "" "<60y" "" "" "" "" "" "" "" "" "" "0000340352" "04203" "00451692" "03287" "Unknown" "" "" "" "<60y" "" "" "" "" "" "" "" "" "" "0000340353" "04203" "00451693" "03287" "Unknown" "" "" "" "<60y" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000448024" "00446451" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448025" "00446452" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000448026" "00446453" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000449795" "00448220" "1" "00006" "00006" "2024-02-22 17:47:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000453286" "00451683" "1" "03287" "03287" "2024-06-28 13:32:39" "" "" "SEQ" "DNA" "" "" "0000453287" "00451685" "1" "03287" "03287" "2024-06-28 13:53:44" "" "" "SEQ" "DNA" "" "" "0000453291" "00451688" "1" "03287" "03287" "2024-06-28 15:37:10" "" "" "SEQ" "DNA" "" "" "0000453292" "00451689" "1" "03287" "03287" "2024-06-28 15:39:59" "" "" "SEQ" "DNA" "" "" "0000453293" "00451690" "1" "03287" "03287" "2024-06-28 15:42:49" "" "" "SEQ" "DNA" "" "" "0000453294" "00451691" "1" "03287" "03287" "2024-06-28 16:01:45" "" "" "SEQ" "DNA" "" "" "0000453295" "00451692" "1" "03287" "03287" "2024-06-28 16:03:56" "" "" "SEQ" "DNA" "" "" "0000453296" "00451693" "1" "03287" "03287" "2024-06-28 16:05:59" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{geneid}}" "0000453286" "CAV1" "0000453287" "CAV1" "0000453291" "CAV1" "0000453292" "CAV1" "0000453293" "CAV1" "0000453294" "CAV1" "0000453295" "CAV1" "0000453296" "CAV1" ## 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 = 27 "{{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}}" "0000249104" "0" "10" "7" "116165360" "116165360" "subst" "0.86228" "02325" "CAV1_000002" "g.116165360A>C" "" "" "" "CAV1(NM_001172895.1):c.-563A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116525306A>C" "" "benign" "" "0000264314" "0" "10" "7" "116165160" "116165160" "subst" "0.0173748" "02330" "CAV1_000001" "g.116165160G>T" "" "" "" "CAV1(NM_001172895.1):c.-763G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116525106G>T" "" "benign" "" "0000264315" "0" "10" "7" "116166704" "116166704" "subst" "0.00865585" "02330" "CAV1_000003" "g.116166704C>T" "" "" "" "CAV1(NM_001172895.1):c.63C>T (p.V21=, p.(Val21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116526650C>T" "" "benign" "" "0000266499" "0" "30" "7" "116199161" "116199161" "subst" "5.28692E-5" "02325" "CAV1_000004" "g.116199161C>T" "" "" "" "CAV1(NM_001172895.1):c.264C>T (p.F88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.116559107C>T" "" "likely benign" "" "0000530446" "0" "50" "7" "116165144" "116165144" "subst" "9.79464E-5" "02330" "CAV1_000005" "g.116165144G>T" "" "" "" "CAV1(NM_001753.5):c.28G>T (p.E10*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116525090G>T" "" "VUS" "" "0000530447" "0" "30" "7" "116199241" "116199241" "subst" "0.00017909" "01804" "CAV1_000006" "g.116199241G>C" "" "" "" "CAV1(NM_001172895.1):c.344G>C (p.(Arg115Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116559187G>C" "" "likely benign" "" "0000610626" "0" "30" "7" "116166602" "116166602" "subst" "0.000125944" "02327" "CAV1_000007" "g.116166602C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116526548C>G" "" "likely benign" "" "0000610627" "0" "30" "7" "116199161" "116199161" "subst" "5.28692E-5" "01943" "CAV1_000004" "g.116199161C>T" "" "" "" "CAV1(NM_001172895.1):c.264C>T (p.F88=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116559107C>T" "" "likely benign" "" "0000655712" "0" "30" "7" "116165162" "116165162" "subst" "0.0017744" "02330" "CAV1_000008" "g.116165162G>A" "" "" "" "CAV1(NM_001172895.1):c.-761G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.116525108G>A" "" "likely benign" "" "0000721194" "0" "50" "7" "116166684" "116166684" "subst" "0" "01943" "CAV1_000009" "g.116166684A>G" "" "" "" "CAV1(NM_001172895.1):c.43A>G (p.T15A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000860585" "0" "30" "7" "116165162" "116165162" "subst" "0.0017744" "01804" "CAV1_000008" "g.116165162G>A" "" "" "" "CAV1(NM_001172895.1):c.-761G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912618" "0" "10" "7" "116165165" "116165165" "dup" "0" "02325" "CAV1_000010" "g.116165165dup" "" "" "" "CAV1(NM_001753.5):c.30+19dupG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000957404" "11" "50" "7" "116199105" "116199105" "subst" "0" "00006" "CAV1_000011" "g.116199105C>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.116559051C>A" "" "VUS" "" "0000957405" "11" "50" "7" "116199105" "116199105" "subst" "0" "00006" "CAV1_000011" "g.116199105C>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.116559051C>A" "" "VUS" "" "0000957406" "0" "50" "7" "116199105" "116199105" "subst" "0" "00006" "CAV1_000011" "g.116199105C>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.116559051C>A" "" "VUS" "" "0000960286" "11" "50" "7" "116199088" "116199088" "subst" "3.25518E-5" "00006" "CAV1_000012" "g.116199088C>T" "" "{PMID:Poli 2024:38177409}" "" "" "" "Germline" "" "" "0" "" "" "g.116559034C>T" "" "VUS" "" "0000977470" "0" "50" "7" "116199252" "116199252" "subst" "0.000130256" "01804" "CAV1_000013" "g.116199252A>G" "" "" "" "CAV1(NM_001753.5):c.448A>G (p.(Ile150Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000987865" "0" "50" "7" "116165159" "116165159" "subst" "0.000169128" "03287" "CAV1_000014" "g.116165159G>T" "" "" "" "" "" "Germline/De novo (untested)" "?" "rs199578058" "0" "" "" "g.116525105G>T" "" "VUS" "other" "0000987866" "0" "50" "7" "116165160" "116165160" "subst" "0.0173748" "03287" "CAV1_000001" "g.116165160G>T" "" "" "" "" "" "Germline" "" "rs35697540" "0" "" "" "g.116525106G>T" "" "VUS" "other" "0000987872" "0" "50" "7" "116165174" "116165174" "subst" "0.0231197" "03287" "CAV1_000015" "g.116165174C>T" "" "" "" "" "" "Germline" "" "rs35182456" "0" "" "" "g.116525120C>T" "" "VUS" "other" "0000987873" "0" "30" "7" "116165233" "116165233" "subst" "0.0483742" "03287" "CAV1_000016" "g.116165233C>T" "" "" "" "" "" "Germline" "" "rs45498702" "0" "" "" "g.116525179C>T" "" "VUS" "other" "0000987874" "0" "30" "7" "116165240" "116165241" "dup" "0" "03287" "CAV1_000017" "g.116165240_116165241dup" "" "" "" "30+91_30+92insCC" "" "Germline" "" "" "0" "" "" "g.116525186_116525187dup" "" "VUS" "other" "0000987875" "0" "50" "7" "116165360" "116165360" "subst" "0.86228" "03287" "CAV1_000002" "g.116165360A>C" "" "" "" "" "" "Germline" "" "rs1997623" "0" "" "" "g.116525306A>C" "" "VUS" "other" "0000987876" "0" "50" "7" "116165463" "116165463" "subst" "0" "03287" "CAV1_000018" "g.116165463T>C" "" "" "" "" "" "Germline" "" "rs2742125" "0" "" "" "g.116525409T>C" "" "VUS" "other" "0000987877" "0" "90" "7" "116166602" "116166602" "subst" "0.000125944" "03287" "CAV1_000007" "g.116166602C>G" "" "" "" "" "" "Germline" "" "rs150051547" "0" "" "" "g.116526548C>G" "" "likely pathogenic" "other" "0001036074" "0" "50" "7" "116199190" "116199190" "subst" "1.22061E-5" "01804" "CAV1_000019" "g.116199190C>T" "" "" "" "CAV1(NM_001172895.1):c.293C>T (p.(Ala98Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046091" "0" "30" "7" "116166704" "116166704" "subst" "0.00865585" "01804" "CAV1_000003" "g.116166704C>T" "" "" "" "CAV1(NM_001172895.1):c.63C>T (p.V21=, p.(Val21=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 CAV1 ## Count = 27 "{{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}}" "0000249104" "00004405" "10" "30" "214" "30" "214" "c.30+214A>C" "r.(=)" "p.(=)" "" "0000264314" "00004405" "10" "30" "14" "30" "14" "c.30+14G>T" "r.(=)" "p.(=)" "" "0000264315" "00004405" "10" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Val52=)" "" "0000266499" "00004405" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Phe119=)" "" "0000530446" "00004405" "50" "28" "0" "28" "0" "c.28G>T" "r.(?)" "p.(Glu10Ter)" "" "0000530447" "00004405" "30" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.(Arg146Pro)" "" "0000610626" "00004405" "30" "54" "0" "54" "0" "c.54C>G" "r.(?)" "p.(Ile18Met)" "" "0000610627" "00004405" "30" "357" "0" "357" "0" "c.357C>T" "r.(?)" "p.(Phe119=)" "" "0000655712" "00004405" "30" "30" "16" "30" "16" "c.30+16G>A" "r.(=)" "p.(=)" "" "0000721194" "00004405" "50" "136" "0" "136" "0" "c.136A>G" "r.(?)" "p.(Thr46Ala)" "" "0000860585" "00004405" "30" "30" "16" "30" "16" "c.30+16G>A" "r.(=)" "p.(=)" "" "0000912618" "00004405" "10" "30" "19" "30" "19" "c.30+19dup" "r.(=)" "p.(=)" "" "0000957404" "00004405" "50" "301" "0" "301" "0" "c.301C>A" "r.(?)" "p.(Arg101Ser)" "3" "0000957405" "00004405" "50" "301" "0" "301" "0" "c.301C>A" "r.(?)" "p.(Arg101Ser)" "3" "0000957406" "00004405" "50" "301" "0" "301" "0" "c.301C>A" "r.(?)" "p.(Arg101Ser)" "3" "0000960286" "00004405" "50" "284" "0" "284" "0" "c.284C>T" "r.(?)" "p.(Thr95Met)" "" "0000977470" "00004405" "50" "448" "0" "448" "0" "c.448A>G" "r.(?)" "p.(Ile150Val)" "" "0000987865" "00004405" "50" "30" "13" "30" "13" "c.30+13G>T" "r.(?)" "p.(=)" "" "0000987866" "00004405" "50" "30" "14" "30" "14" "c.30+14G>T" "r.spl?" "p.(?)" "" "0000987872" "00004405" "50" "30" "28" "30" "28" "c.30+28C>T" "r.(?)" "p.(=)" "" "0000987873" "00004405" "30" "30" "87" "30" "87" "c.30+87C>T" "r.(?)" "p.(=)" "" "0000987874" "00004405" "30" "30" "94" "30" "95" "c.30+94_30+95dup" "r.(?)" "p.(=)" "" "0000987875" "00004405" "50" "30" "214" "30" "214" "c.30+214A>C" "r.(=)" "p.(=)" "" "0000987876" "00004405" "50" "30" "317" "30" "317" "c.30+317T>C" "r.(?)" "p.(=)" "" "0000987877" "00004405" "90" "54" "0" "54" "0" "c.54C>G" "r.(?)" "p.(Ile18Met)" "2" "0001036074" "00004405" "50" "386" "0" "386" "0" "c.386C>T" "r.(?)" "p.(Ala129Val)" "" "0001046091" "00004405" "30" "156" "0" "156" "0" "c.156C>T" "r.(?)" "p.(Val52=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{variantid}}" "0000448024" "0000957404" "0000448025" "0000957405" "0000448026" "0000957406" "0000449795" "0000960286" "0000453286" "0000987865" "0000453287" "0000987866" "0000453291" "0000987872" "0000453292" "0000987873" "0000453293" "0000987874" "0000453294" "0000987875" "0000453295" "0000987876" "0000453296" "0000987877"