### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TTPA)
# 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}}"
"TTPA" "tocopherol (alpha) transfer protein" "8" "q12.3" "unknown" "NG_016123.1" "UD_132118927913" "" "https://www.LOVD.nl/TTPA" "" "1" "12404" "7274" "600415" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.
Establishment of this gene variant database (LSDB) 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/TTPA_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00002" "2013-02-11 00:00:00" "00006" "2020-11-26 20:48:00" "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}}"
"00000187" "TTPA" "tocopherol (alpha) transfer protein" "001" "NM_000370.3" "" "NP_000361.1" "" "" "" "-32" "2601" "837" "63998612" "63972047" "00002" "2012-05-11 13:12:22" "" ""
## 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}}"
"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"
"02124" "VED" "ataxia, with vitamin E deficiency (VED)" "AR" "277460" "" "" "" "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"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}" "{{diseaseid}}"
"TTPA" "02124"
## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" ""
"00307821" "" "" "" "4" "" "00006" "{PMID:Al-Bdour 2020:32587456}" "4-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Jordan" "" "0" "" "" "" "Fam1"
"00374530" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3342"
"00384144" "" "" "" "1" "" "00000" "{PMID:Martin Merida 2019:30902645}" "" "?" "" "Spain" "" "0" "" "" "" "RP-2624"
"00408680" "" "" "" "1" "" "00006" "{PMID:Thomas 2022:34085946}" "no family history" "" "no" "France" "" "0" "" "" "" "Pat65"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}" "{{diseaseid}}"
"00000030" "00000"
"00307821" "04214"
"00374530" "00198"
"00384144" "04214"
"00408680" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 02124, 04214
## Count = 4
"{{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}}"
"0000233261" "04214" "00307821" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "RP1" "retinitis pigmentosa" ""
"0000269740" "00198" "00374530" "00006" "Familial, autosomal recessive" "" "Slurred speech and motor difficulties" "" "" "" "" "" "" "" "" "" "ataxia" ""
"0000277929" "04214" "00384144" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Retinitis pigmentosa" ""
"0000300798" "00198" "00408680" "00006" "Familial, autosomal recessive" "" "" "10y" "" "" "" "" "" "" "" "AVED" "cerebellar ataxia" ""
## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" ""
"0000308961" "00307821" "1" "00006" "00006" "2020-08-18 14:48:39" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000375724" "00374530" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000385369" "00384144" "1" "00000" "03840" "2021-09-29 13:11:15" "" "" "SEQ-NG-I" "DNA" "" ""
"0000409942" "00408680" "1" "00006" "00006" "2022-04-25 19:53:26" "" "" "SEQ-NG" "DNA" "" "clincal WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 16
"{{screeningid}}" "{{geneid}}"
"0000000030" "ADA"
"0000000030" "ATP7B"
"0000000030" "CPT2"
"0000000030" "GALC"
"0000000030" "HEXB"
"0000000030" "IGHMBP2"
"0000000030" "NHLRC1"
"0000000030" "SBDS"
"0000000030" "SERPINA1"
"0000000030" "SLC26A2"
"0000000030" "SMPD1"
"0000000030" "TTPA"
"0000000030" "WNT10A"
"0000308961" "RP1"
"0000375724" "TTPA"
"0000385369" "TTPA"
## 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 = 33
"{{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}}"
"0000001265" "3" "50" "8" "63976767" "63976767" "subst" "2.04782E-5" "00002" "TTPA_000001" "g.63976767G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.63064208G>A" "" "VUS" ""
"0000248020" "0" "10" "8" "63976754" "63976754" "subst" "0.556016" "02325" "TTPA_000003" "g.63976754A>G" "" "" "" "TTPA(NM_000370.3):c.663+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064195A>G" "" "benign" ""
"0000248149" "0" "90" "8" "63978529" "63978529" "del" "0" "02325" "TTPA_000004" "g.63978529del" "" "" "" "TTPA(NM_000370.3):c.487delT (p.W163Gfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065970del" "" "pathogenic" ""
"0000249127" "0" "10" "8" "63978666" "63978666" "del" "0" "02325" "TTPA_000006" "g.63978666del" "" "" "" "TTPA(NM_000370.3):c.359-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63066107del" "" "benign" ""
"0000253281" "0" "10" "8" "63976754" "63976754" "subst" "0.556016" "01943" "TTPA_000003" "g.63976754A>G" "" "" "" "TTPA(NM_000370.3):c.663+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064195A>G" "" "benign" ""
"0000253825" "0" "10" "8" "63978666" "63978666" "del" "0" "01943" "TTPA_000005" "g.63978666del" "" "" "" "TTPA(NM_000370.3):c.359-3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63066107del" "" "benign" ""
"0000255253" "0" "30" "8" "63973988" "63973988" "subst" "0.00833653" "01943" "TTPA_000002" "g.63973988A>C" "" "" "" "TTPA(NM_000370.3):c.664-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061429A>C" "" "likely benign" ""
"0000255407" "0" "90" "8" "63978529" "63978529" "del" "0" "01943" "TTPA_000004" "g.63978529del" "" "" "" "TTPA(NM_000370.3):c.487delT (p.W163Gfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065970del" "" "pathogenic" ""
"0000338567" "0" "10" "8" "63976754" "63976754" "subst" "0.556016" "02327" "TTPA_000003" "g.63976754A>G" "" "" "" "TTPA(NM_000370.3):c.663+11T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064195A>G" "" "benign" ""
"0000338568" "0" "90" "8" "63976764" "63976764" "subst" "0" "02327" "TTPA_000009" "g.63976764C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064205C>T" "" "pathogenic" ""
"0000341866" "0" "90" "8" "63978615" "63978615" "subst" "1.62546E-5" "02327" "TTPA_000015" "g.63978615G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63066056G>A" "" "pathogenic" ""
"0000341963" "0" "50" "8" "63978563" "63978563" "subst" "0.000463189" "02327" "TTPA_000013" "g.63978563C>T" "" "" "" "TTPA(NM_000370.3):c.452G>A (p.R151Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63066004C>T" "" "VUS" ""
"0000342159" "0" "70" "8" "63976853" "63976853" "subst" "5.7093E-5" "02327" "TTPA_000011" "g.63976853C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064294C>T" "" "likely pathogenic" ""
"0000345132" "0" "70" "8" "63978594" "63978594" "subst" "2.4376E-5" "02327" "TTPA_000014" "g.63978594C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63066035C>T" "" "likely pathogenic" ""
"0000345291" "0" "90" "8" "63973905" "63973905" "del" "0" "02327" "TTPA_000007" "g.63973905del" "" "" "" "TTPA(NM_000370.3):c.744delA (p.E249Nfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63061346del" "" "pathogenic" ""
"0000345625" "0" "50" "8" "63985547" "63985547" "subst" "0" "02327" "TTPA_000016" "g.63985547C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63072988C>T" "" "VUS" ""
"0000349321" "0" "90" "8" "63978501" "63978502" "ins" "0.000150373" "02327" "TTPA_000012" "g.63978501_63978502insAA" "" "" "" "TTPA(NM_000370.3):c.513_514insTT (p.(Thr172LeufsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065942_63065943insAA" "" "pathogenic" ""
"0000349709" "0" "90" "8" "63978529" "63978529" "del" "0" "02327" "TTPA_000004" "g.63978529del" "" "" "" "TTPA(NM_000370.3):c.487delT (p.W163Gfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63065970del" "" "pathogenic" ""
"0000350188" "0" "50" "8" "63985634" "63985634" "subst" "8.15854E-6" "02327" "TTPA_000017" "g.63985634T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63073075T>C" "" "VUS" ""
"0000350388" "0" "50" "8" "63976812" "63976812" "subst" "4.06888E-5" "02327" "TTPA_000010" "g.63976812C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.63064253C>T" "" "VUS" ""
"0000535226" "0" "90" "8" "63973905" "63973905" "del" "0" "01943" "TTPA_000007" "g.63973905del" "" "" "" "TTPA(NM_000370.3):c.744delA (p.E249Nfs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63061346del" "" "pathogenic" ""
"0000535227" "0" "50" "8" "63978563" "63978563" "subst" "0.000463189" "01943" "TTPA_000013" "g.63978563C>T" "" "" "" "TTPA(NM_000370.3):c.452G>A (p.R151Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.63066004C>T" "" "VUS" ""
"0000683405" "3" "50" "8" "63976829" "63976829" "subst" "0" "00006" "TTPA_000019" "g.63976829G>A" "" "{PMID:Al-Bdour 2020:32587456}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG"
"0000690315" "0" "50" "8" "63978530" "63978530" "subst" "0" "01943" "TTPA_000020" "g.63978530C>A" "" "" "" "TTPA(NM_000370.3):c.485G>T (p.G162V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000787075" "3" "70" "8" "63998555" "63998555" "subst" "0" "00006" "TTPA_000021" "g.63998555G>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.63085996G>T" "" "likely pathogenic" ""
"0000812394" "0" "70" "8" "63978563" "63978563" "subst" "0.000463189" "00000" "TTPA_000013" "g.63978563C>T" "" "{PMID:Martin Merida 2019:30902645}" "" "TTPA Ex.3 c.452G>A p.(Arg151Gln), Ex.3 c.513_514insTT p.(Thr172Leufs*5)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.63066004C>T" "" "likely pathogenic" ""
"0000812395" "0" "70" "8" "63978501" "63978502" "ins" "0.000150373" "00000" "TTPA_000012" "g.63978501_63978502insAA" "" "{PMID:Martin Merida 2019:30902645}" "" "TTPA Ex.3 c.452G>A p.(Arg151Gln), Ex.3 c.513_514insTT p.(Thr172Leufs*5)" "compound heterozygous" "Germline" "yes" "" "0" "" "" "g.63065942_63065943insAA" "" "likely pathogenic" ""
"0000847158" "1" "90" "8" "63978501" "63978502" "ins" "0.000150373" "00006" "TTPA_000012" "g.63978501_63978502insAA" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.63065942_63065943insAA" "" "pathogenic" "ACMG"
"0000847180" "2" "90" "8" "63998580" "63998580" "subst" "0" "00006" "TTPA_000022" "g.63998580T>A" "" "{PMID:Thomas 2022:34085946}" "" "" "" "Germline" "" "" "0" "" "" "g.63086021T>A" "" "pathogenic" ""
"0000861273" "0" "50" "8" "63973886" "63973886" "subst" "0" "01943" "TTPA_000023" "g.63973886G>T" "" "" "" "TTPA(NM_000370.3):c.762C>A (p.D254E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000861274" "0" "30" "8" "63973988" "63973988" "subst" "0.00833653" "02330" "TTPA_000002" "g.63973988A>C" "" "" "" "TTPA(NM_000370.3):c.664-4T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000924900" "0" "90" "8" "63985648" "63985648" "subst" "8.21889E-6" "02327" "TTPA_000024" "g.63985648C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001037025" "0" "90" "8" "63978501" "63978502" "ins" "0.000150373" "01804" "TTPA_000012" "g.63978501_63978502insAA" "" "" "" "TTPA(NM_000370.3):c.513_514insTT (p.(Thr172LeufsTer5))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
## 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 TTPA
## Count = 33
"{{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}}"
"0000001265" "00000187" "50" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Arg221Trp)" ""
"0000248020" "00000187" "10" "663" "11" "663" "11" "c.663+11T>C" "r.(=)" "p.(=)" ""
"0000248149" "00000187" "90" "487" "0" "487" "0" "c.487del" "r.(?)" "p.(Trp163GlyfsTer13)" ""
"0000249127" "00000187" "10" "359" "-3" "359" "-3" "c.359-3del" "r.spl?" "p.?" ""
"0000253281" "00000187" "10" "663" "11" "663" "11" "c.663+11T>C" "r.(=)" "p.(=)" ""
"0000253825" "00000187" "10" "359" "-3" "359" "-3" "c.359-3del" "r.spl?" "p.?" ""
"0000255253" "00000187" "30" "664" "-4" "664" "-4" "c.664-4T>G" "r.spl?" "p.?" ""
"0000255407" "00000187" "90" "487" "0" "487" "0" "c.487del" "r.(?)" "p.(Trp163GlyfsTer13)" ""
"0000338567" "00000187" "10" "663" "11" "663" "11" "c.663+11T>C" "r.(=)" "p.(=)" ""
"0000338568" "00000187" "90" "663" "1" "663" "1" "c.663+1G>A" "r.spl?" "p.?" ""
"0000341866" "00000187" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Arg134Ter)" ""
"0000341963" "00000187" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Arg151Gln)" ""
"0000342159" "00000187" "70" "575" "0" "575" "0" "c.575G>A" "r.(?)" "p.(Arg192His)" ""
"0000345132" "00000187" "70" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Glu141Lys)" ""
"0000345291" "00000187" "90" "744" "0" "744" "0" "c.744del" "r.(?)" "p.(Glu249AsnfsTer15)" ""
"0000345625" "00000187" "50" "305" "0" "305" "0" "c.305G>A" "r.(?)" "p.(Gly102Glu)" ""
"0000349321" "00000187" "90" "513" "0" "514" "0" "c.513_514insTT" "r.(?)" "p.(Thr172LeufsTer5)" ""
"0000349709" "00000187" "90" "487" "0" "487" "0" "c.487del" "r.(?)" "p.(Trp163GlyfsTer13)" ""
"0000350188" "00000187" "50" "218" "0" "218" "0" "c.218A>G" "r.(?)" "p.(Tyr73Cys)" ""
"0000350388" "00000187" "50" "616" "0" "616" "0" "c.616G>A" "r.(?)" "p.(Val206Ile)" ""
"0000535226" "00000187" "90" "744" "0" "744" "0" "c.744del" "r.(?)" "p.(Glu249AsnfsTer15)" ""
"0000535227" "00000187" "50" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Arg151Gln)" ""
"0000683405" "00000187" "50" "599" "0" "599" "0" "c.599C>T" "r.(?)" "p.(Pro200Leu)" ""
"0000690315" "00000187" "50" "485" "0" "485" "0" "c.485G>T" "r.(?)" "p.(Gly162Val)" ""
"0000787075" "00000187" "70" "26" "0" "26" "0" "c.26C>A" "r.(?)" "p.(Ser9Ter)" "1"
"0000812394" "00000187" "70" "452" "0" "452" "0" "c.452G>A" "r.(?)" "p.(Arg151Gln)" "3"
"0000812395" "00000187" "70" "513" "0" "514" "0" "c.513_514insTT" "r.(?)" "p.(Thr172Leufs*5)" "3"
"0000847158" "00000187" "90" "513" "0" "514" "0" "c.513_514insTT" "r.(?)" "p.(Thr172LeufsTer5)" ""
"0000847180" "00000187" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.(Met1?)" ""
"0000861273" "00000187" "50" "762" "0" "762" "0" "c.762C>A" "r.(?)" "p.(Asp254Glu)" ""
"0000861274" "00000187" "30" "664" "-4" "664" "-4" "c.664-4T>G" "r.spl?" "p.?" ""
"0000924900" "00000187" "90" "205" "-1" "205" "-1" "c.205-1G>C" "r.spl?" "p.?" ""
"0001037025" "00000187" "90" "513" "0" "514" "0" "c.513_514insTT" "r.(?)" "p.(Thr172LeufsTer5)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{variantid}}"
"0000000030" "0000001265"
"0000308961" "0000683405"
"0000375724" "0000787075"
"0000385369" "0000812394"
"0000385369" "0000812395"
"0000409942" "0000847158"
"0000409942" "0000847180"