### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = BFSP2)
# 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}}"
"BFSP2" "beaded filament structural protein 2, phakinin" "3" "q22.1" "unknown" "NG_012425.2" "UD_132118696600" "" "https://www.LOVD.nl/BFSP2" "" "1" "1041" "8419" "603212" "1" "1" "1" "1" "This database is one of the \"Eye disease\" gene variant databases.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/BFSP2_codingDNA.html" "1" "" "This database is one of the \"Eye disease\" gene variant databases." "-1" "" "-1" "00001" "2010-03-01 00:00:00" "00006" "2023-11-11 21:19:45" "00006" "2025-11-08 17:42:19"
## 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}}"
"00003379" "BFSP2" "beaded filament structural protein 2, phakinin" "001" "NM_003571.2" "" "NP_003562.1" "" "" "" "-138" "1488" "1248" "133118790" "133194056" "" "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}}"
"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"
"03043" "CTRCT12" "cataract, type 12, multiple types (CTRCT-12)" "AD" "611597" "" "" "" "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"
"05165" "CCTRCT" "cataract, congenital (CCTRCT)" "" "" "" "" "" "00006" "2016-05-15 20:37:47" "" ""
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}" "{{diseaseid}}"
"BFSP2" "00296"
"BFSP2" "03043"
## Individuals ## Do not remove or alter this header ##
## Count = 30
"{{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}}"
"00065039" "" "" "" "3" "" "00006" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "has affected father, paternal cousin" "M" "no" "" "" "0" "" "" "" ""
"00335999" "" "" "" "1" "" "00000" "{PMID:Sergouniotis 2016:27628848}" "analysis 181 cases" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00385542" "" "" "" "1" "" "00000" "{PMID:Lenassi 2020:31848469}" "retrospective analysis" "M" "" "(United Kingdom (Great Britain))" "" "0" "" "" "" "18009736"
"00414387" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "F" "" "China" "" "0" "" "" "" "WHP54"
"00434080" "" "" "" "1" "" "00006" "{PMID:Li 2016:27307692}" "" "" "" "China" "" "0" "" "" "" "Pat51"
"00434131" "" "" "" "5" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 5 affected (5F)" "F" "" "China" "" "0" "" "" "" "Fam3PatIV1"
"00434132" "" "" "" "4" "" "00006" "{PMID:Li 2019:31842807}" "4-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam4PatIV1"
"00441768" "" "" "" "15" "" "00006" "{PMID:Jakobs 2000:10739768}" "4-generation family, 15 affected (3F, 12M)" "F;M" "" "United States" "" "0" "" "" "" "FamADCC-3"
"00441769" "" "" "" "15" "" "00006" "{PMID:Conley 2000:10729115}" "5-generation family, 15 affected (8F, 7M)" "F;M" "" "United States" "" "0" "" "" "" "family"
"00441810" "" "" "" "4" "" "00006" "{PMID:Javadiyan 2017:28839118}" "3-generation family, 4 affected (3F, M)" "F;M" "" "Australia" "" "0" "" "" "" "CRVEEH85"
"00441881" "" "" "" "4" "" "00006" "{PMID:Aldahmesh 2011:21836522}, {PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "5-generation family, 4 affected (3F, M)" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam2;Cata_DGU-6;Fam19"
"00444345" "" "" "" "5" "" "00006" "{PMID:Li 2018:29914532}" "4-generation family, 5 affected (3F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam11PatIV1"
"00444934" "" "" "" "3" "" "00006" "{PMID:Patel 2017:27878435}" "family" "" "" "" "" "0" "" "" "" "09DG00751"
"00444990" "" "" "" "1" "" "00006" "{PMID:Reis 2013:23508780}" "4-generation family, 19 affected (7F, 10M)/3 unaffected obligate carriers" "" "" "United States" "" "0" "" "" "Hispanic;Uruguay" "Pat4"
"00446494" "" "" "" "4" "" "00006" "{PMID:Liu 2023:37337769}" "3-generation family, 4 affected (2F, 2M)" "F" "" "China" "" "0" "" "" "" "Fam100Pat274"
"00468402" "" "" "" "15" "" "00006" "{PMID:Guo 2025:40449652}" "family, several affected" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808"
"00468403" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam84Pat15808-1"
"00468404" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam84Pat15808-2"
"00468405" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-3"
"00468406" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-4"
"00468407" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-5"
"00468408" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-6"
"00468409" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-7"
"00468410" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-8"
"00468411" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-9"
"00468412" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam84Pat15808-10"
"00468413" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam84Pat15808-11"
"00468414" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "F" "" "China" "" "0" "" "" "" "Fam84Pat15808-12"
"00468415" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-13"
"00468416" "" "" "00468402" "1" "" "00006" "{PMID:Guo 2025:40449652}" "relative" "M" "" "China" "" "0" "" "" "" "Fam84Pat15808-14"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 30
"{{individualid}}" "{{diseaseid}}"
"00065039" "05165"
"00335999" "00296"
"00385542" "04214"
"00414387" "00198"
"00434080" "00296"
"00434131" "00296"
"00434132" "00296"
"00441768" "00296"
"00441769" "00296"
"00441810" "00296"
"00441881" "00296"
"00444345" "00296"
"00444934" "00296"
"00444990" "00296"
"00446494" "00296"
"00468402" "00296"
"00468403" "00296"
"00468404" "00296"
"00468405" "00296"
"00468406" "00296"
"00468407" "00296"
"00468408" "00296"
"00468409" "00296"
"00468410" "00296"
"00468411" "00296"
"00468412" "00296"
"00468413" "00296"
"00468414" "00296"
"00468415" "00296"
"00468416" "00296"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 03043, 04214, 05165
## Count = 30
"{{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}}"
"0000051176" "05165" "00065039" "00006" "Familial, autosomal dominant" "" "Spoke-like, nuclear component, subcapsular, lamellar cataract" "" "" "" "" "" "" "" "" "" "" ""
"0000253914" "00296" "00335999" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "childhood cataract" ""
"0000279337" "04214" "00385542" "00000" "Familial, autosomal dominant" "" "" "2y" "" "" "" "" "" "" "" "bilateral paediatric cataract" "congenital cataracts" ""
"0000306222" "00198" "00414387" "00000" "Familial, autosomal dominant" "23y" "" "" "" "" "" "" "" "" "" "Cataract 12" "" ""
"0000324456" "00296" "00434080" "00006" "Familial, autosomal dominant" "" "bilateral nuclear cataract" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000324485" "00296" "00434131" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT33" "cataract" ""
"0000324486" "00296" "00434132" "00006" "Familial, autosomal dominant" "" "see paper; ..., total cataract" "" "" "" "" "" "" "" "" "CTRCT6" "cataract" ""
"0000331179" "00296" "00441768" "00006" "Familial, autosomal dominant" "" "see paper; ..., congenital nuclear, sutural and stellate or spokelike cortical cataracts, variable severity" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000331180" "00296" "00441769" "00006" "Familial, autosomal dominant" "" "see paper; ..., juvenile-onset, progressive cataract" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000331218" "00296" "00441810" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital cataract" ""
"0000331269" "00296" "00441881" "00006" "Familial, autosomal recessive" "" "cataract, pulverent, juvenile; fleck with cortical clouding" "" "" "" "" "" "" "" "" "" "cataract" ""
"0000333598" "00296" "00444345" "00006" "Familial, autosomal dominant" "" "total cataract" "0d" "" "" "" "" "" "" "" "" "cataract" ""
"0000334184" "00296" "00444934" "00006" "Familial, autosomal recessive" "" "pulverulent cataract; not syndromic" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000334241" "00296" "00444990" "00006" "Familial, autosomal dominant" "" "congenital cataract; glaucoma, myopia" "" "" "" "" "" "" "" "" "CTRCT42" "cataract" ""
"0000335711" "00296" "00446494" "00006" "Unknown" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" ""
"0000353554" "00296" "00468402" "00006" "Familial, autosomal dominant" "5.0y" "see paper; ..., sutural cataract; 8.0y-surgery" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353555" "00296" "00468403" "00006" "Familial, autosomal dominant" "77.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353556" "00296" "00468404" "00006" "Familial, autosomal dominant" "73.0y" "see paper; ..., sutural cataract; high myopia; no surgery" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353557" "00296" "00468405" "00006" "Familial, autosomal dominant" "51.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353558" "00296" "00468406" "00006" "Familial, autosomal dominant" "41.0y" "see paper; ..., sutural cataract; high myopia;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353559" "00296" "00468407" "00006" "Familial, autosomal dominant" "47.0y" "see paper; ..., sutural cataract; high myopia;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353560" "00296" "00468408" "00006" "Familial, autosomal dominant" "44.0y" "see paper; ..., sutural cataract; high myopia;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353561" "00296" "00468409" "00006" "Familial, autosomal dominant" "28.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353562" "00296" "00468410" "00006" "Familial, autosomal dominant" "22.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353563" "00296" "00468411" "00006" "Familial, autosomal dominant" "14.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353564" "00296" "00468412" "00006" "Familial, autosomal dominant" "" "see paper; ..., sutural cataract; high myopia;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353565" "00296" "00468413" "00006" "Familial, autosomal dominant" "19.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353566" "00296" "00468414" "00006" "Familial, autosomal dominant" "17.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353567" "00296" "00468415" "00006" "Familial, autosomal dominant" "4.0y" "see paper; ..., sutural cataract;" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
"0000353568" "00296" "00468416" "00006" "Familial, autosomal dominant" "24.0y" "see paper; ..., sutural cataract; no surgery" "" "" "" "" "" "" "" "" "CTRCT12" "cataract" ""
## Screenings ## Do not remove or alter this header ##
## Count = 30
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000065181" "00065039" "1" "00006" "00006" "2016-05-15 22:17:13" "00006" "2016-05-15 22:50:50" "SEQ;SEQ-NG" "DNA" "" ""
"0000337229" "00335999" "1" "00000" "00006" "2021-03-10 17:05:56" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000386771" "00385542" "1" "00000" "03840" "2021-10-12 17:40:23" "" "" "SEQ-NG" "DNA" "blood" "144 genes panel tested"
"0000415667" "00414387" "1" "00000" "03840" "2022-07-28 13:16:36" "" "" "SEQ-NG-I" "DNA" "blood" ""
"0000435547" "00434080" "1" "00006" "00006" "2023-03-19 16:52:56" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435598" "00434131" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000435599" "00434132" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000443254" "00441768" "1" "00006" "00006" "2010-03-16 17:24:19" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000443255" "00441769" "1" "00006" "00006" "2010-03-16 17:24:19" "" "" "arraySNP;SEQ" "DNA" "" ""
"0000443296" "00441810" "1" "00006" "00006" "2023-11-13 11:55:01" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel"
"0000443366" "00441881" "1" "00006" "00006" "2023-11-14 16:19:09" "" "" "SEQ" "DNA" "" ""
"0000445913" "00444345" "1" "00006" "00006" "2023-12-21 22:12:43" "" "" "SEQ;SEQ-NG" "DNA" "" "80 gene panel"
"0000446503" "00444934" "1" "00006" "00006" "2023-12-29 13:59:22" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000446559" "00444990" "1" "00006" "00006" "2023-12-29 15:44:26" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000448067" "00446494" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel"
"0000470068" "00468402" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470069" "00468403" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470070" "00468404" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470071" "00468405" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470072" "00468406" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470073" "00468407" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470074" "00468408" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470075" "00468409" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470076" "00468410" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470077" "00468411" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470078" "00468412" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470079" "00468413" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470080" "00468414" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470081" "00468415" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
"0000470082" "00468416" "1" "00006" "00006" "2025-11-08 17:41:52" "" "" "SEQ;SEQ-NG" "DNA" "" ""
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 7
"{{screeningid}}" "{{geneid}}"
"0000065181" "BFSP2"
"0000337229" "BFSP2"
"0000386771" "BFSP2"
"0000415667" "BFSP2"
"0000443254" "BFSP2"
"0000443255" "BFSP2"
"0000443366" "BFSP2"
## 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 = 56
"{{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}}"
"0000096837" "1" "90" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000020" "g.133167457_133167459del" "" "{PMID:Gillespie 2014:25148791}, {DOI:Gillespie 2014:10.1016/j.ophtha.2014.06.006}" "" "697_699delAAG" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "pathogenic" ""
"0000259257" "0" "10" "3" "133167363" "133167363" "subst" "0.539896" "02325" "BFSP2_000003" "g.133167363G>A" "" "" "" "BFSP2(NM_003571.4):c.603G>A (p.A201=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133448519G>A" "" "benign" ""
"0000263691" "0" "30" "3" "133191346" "133191346" "subst" "3.70636E-5" "01943" "BFSP2_000004" "g.133191346G>A" "" "" "" "BFSP2(NM_003571.3):c.1181G>A (p.R394H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133472502G>A" "" "likely benign" ""
"0000263692" "0" "10" "3" "133119306" "133119306" "subst" "0.000900473" "01943" "BFSP2_000021" "g.133119306C>G" "" "" "" "BFSP2(NM_003571.3):c.379C>G (p.Q127E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.133400462C>G" "" "benign" ""
"0000517995" "0" "30" "3" "133119001" "133119001" "subst" "8.12731E-6" "01943" "BFSP2_000005" "g.133119001C>T" "" "" "" "BFSP2(NM_003571.3):c.74C>T (p.A25V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133400157C>T" "" "likely benign" ""
"0000517996" "0" "50" "3" "133119151" "133119151" "subst" "4.06464E-6" "01804" "BFSP2_000006" "g.133119151G>A" "" "" "" "BFSP2(NM_003571.2):c.224G>A (p.(Arg75His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133400307G>A" "" "VUS" ""
"0000517998" "0" "50" "3" "133191280" "133191280" "subst" "0.000293712" "01943" "BFSP2_000008" "g.133191280C>T" "" "" "" "BFSP2(NM_003571.3):c.1115C>T (p.A372V), BFSP2(NM_003571.4):c.1115C>T (p.A372V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133472436C>T" "" "VUS" ""
"0000621183" "0" "30" "3" "133119173" "133119173" "subst" "0.00165798" "01943" "BFSP2_000009" "g.133119173T>C" "" "" "" "BFSP2(NM_003571.3):c.246T>C (p.S82=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.133400329T>C" "" "likely benign" ""
"0000676831" "0" "50" "3" "133191364" "133191364" "subst" "8.2481E-6" "01943" "BFSP2_000010" "g.133191364A>T" "" "" "" "BFSP2(NM_003571.3):c.1199A>T (p.K400M), BFSP2(NM_003571.4):c.1199A>T (p.K400M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000719201" "0" "50" "3" "133119082" "133119082" "subst" "4.06507E-5" "01943" "BFSP2_000011" "g.133119082G>A" "" "" "" "BFSP2(NM_003571.3):c.155G>A (p.R52Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000719202" "0" "70" "3" "133119330" "133119330" "subst" "0" "02329" "BFSP2_000007" "g.133119330C>T" "" "" "" "BFSP2(NM_003571.4):c.403C>T (p.Q135*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000719203" "0" "50" "3" "133166188" "133166188" "subst" "4.87888E-5" "01943" "BFSP2_000012" "g.133166188C>T" "" "" "" "BFSP2(NM_003571.3):c.517C>T (p.R173W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000736859" "1" "70" "3" "133167457" "133167459" "del" "0" "00000" "BFSP2_000020" "g.133167457_133167459del" "1/181 individuals" "{PMID:Sergouniotis 2016:27628848}" "" "" "no genotypes reported" "Germline" "" "rs121908938" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic" ""
"0000801004" "0" "90" "3" "133119417" "133119417" "del" "0" "02325" "BFSP2_000014" "g.133119417del" "" "" "" "BFSP2(NM_003571.4):c.489delG (p.V164Wfs*55)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000801005" "0" "50" "3" "133191280" "133191280" "subst" "0.000293712" "02325" "BFSP2_000008" "g.133191280C>T" "" "" "" "BFSP2(NM_003571.3):c.1115C>T (p.A372V), BFSP2(NM_003571.4):c.1115C>T (p.A372V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000801006" "0" "50" "3" "133191364" "133191364" "subst" "8.2481E-6" "02325" "BFSP2_000010" "g.133191364A>T" "" "" "" "BFSP2(NM_003571.3):c.1199A>T (p.K400M), BFSP2(NM_003571.4):c.1199A>T (p.K400M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000814451" "0" "70" "3" "133167457" "133167459" "del" "0" "00000" "BFSP2_000020" "g.133167457_133167459del" "" "{PMID:Lenassi 2020:31848469}" "" "BFSP2 c.697_699del p.(Glu233del) het" "heterozygous" "Germline" "?" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic" "ACMG"
"0000850143" "0" "50" "3" "133119217" "133119217" "subst" "4.06597E-6" "01943" "BFSP2_000015" "g.133119217C>A" "" "" "" "BFSP2(NM_003571.3):c.290C>A (p.P97Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000850144" "0" "50" "3" "133185748" "133185750" "del" "0" "01943" "BFSP2_000016" "g.133185748_133185750del" "" "" "" "BFSP2(NM_003571.3):c.968_970delACA (p.N323del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000873513" "0" "70" "3" "133119040" "133119040" "subst" "4.06497E-6" "00000" "BFSP2_000017" "g.133119040G>A" "154" "{PMID:Sun 2018:30076350}" "" "BFSP2(NM_003571.2):c.113G>A(p.S38N)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.133400196G>A" "" "likely pathogenic" ""
"0000885566" "0" "70" "3" "133167355" "133167355" "subst" "0" "02329" "BFSP2_000018" "g.133167355C>T" "" "" "" "BFSP2(NM_003571.4):c.595C>T (p.R199*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000921566" "1" "50" "3" "133119130" "133119130" "subst" "0" "00006" "BFSP2_000019" "g.133119130G>A" "" "{PMID:Li 2016:27307692}" "" "" "" "Germline" "" "" "0" "" "" "g.133400286G>A" "" "VUS" ""
"0000921678" "3" "30" "3" "133167363" "133167363" "subst" "0.539896" "00006" "BFSP2_000003" "g.133167363G>A" "" "{PMID:Li 2019:31842807}" "" "603G>A" "" "Germline" "" "rs2276737" "0" "" "" "g.133448519G>A" "" "likely benign" ""
"0000921704" "0" "30" "3" "133167363" "133167363" "subst" "0.539896" "00006" "BFSP2_000003" "g.133167363G>A" "" "{PMID:Li 2019:31842807}" "" "603G>A" "" "Germline" "" "rs2276737" "0" "" "" "g.133448519G>A" "" "likely benign" ""
"0000944649" "1" "90" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Jakobs 2000:10739768}" "" "697_699delGAA" "" "Germline" "yes" "" "0" "" "" "g.133448613_133448615del" "" "pathogenic (dominant)" ""
"0000944650" "1" "90" "3" "133169276" "133169276" "subst" "2.03325E-5" "00006" "BFSP2_000002" "g.133169276C>T" "" "{PMID:Conley 2000:10729115}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133450432C>T" "" "pathogenic (dominant)" ""
"0000944703" "1" "50" "3" "133191301" "133191301" "subst" "4.0854E-6" "00006" "BFSP2_000023" "g.133191301C>A" "" "{PMID:Javadiyan 2017:28839118}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133472457C>A" "" "VUS" "ACMG"
"0000944779" "3" "90" "3" "133167361" "133167364" "dup" "0" "00006" "BFSP2_000022" "g.133167361_133167364dup" "" "{PMID:Aldahmesh 2011:21836522}, {PMID:Aldahmesh 2012:22935719}, {PMID:Khan 2015:26622071}" "" "598_599dupAGGC" "" "Germline" "" "" "0" "" "" "g.133448517_133448520dup" "" "pathogenic (recessive)" ""
"0000954110" "21" "90" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Li 2018:29914532}" "" "" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "pathogenic (dominant)" ""
"0000954847" "3" "90" "3" "133167358" "133167359" "dup" "0" "00006" "BFSP2_000026" "g.133167358_133167359dup" "" "{PMID:Patel 2017:27878435}" "" "" "" "Germline" "yes" "" "0" "" "" "g.133448514_133448515dup" "" "pathogenic" ""
"0000954919" "1" "50" "3" "133119192" "133119192" "subst" "0.000113838" "00006" "BFSP2_000024" "g.133119192C>T" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "" "0" "" "" "g.133400348C>T" "" "VUS" ""
"0000954920" "1" "50" "3" "133119364" "133119364" "subst" "0.000576806" "00006" "BFSP2_000025" "g.133119364G>A" "" "{PMID:Reis 2013:23508780}" "" "" "" "Germline" "no" "rs148759360" "0" "" "" "g.133400520G>A" "" "VUS" ""
"0000957447" "11" "50" "3" "133119172" "133119172" "subst" "0" "00006" "BFSP2_000027" "g.133119172G>A" "" "{PMID:Liu 2023:37337769}" "" "" "" "Germline" "" "" "0" "" "" "g.133400328G>A" "" "VUS" ""
"0000962485" "0" "50" "3" "133191364" "133191364" "subst" "8.2481E-6" "02327" "BFSP2_000010" "g.133191364A>T" "" "" "" "BFSP2(NM_003571.3):c.1199A>T (p.K400M), BFSP2(NM_003571.4):c.1199A>T (p.K400M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975587" "0" "50" "3" "133119337" "133119337" "subst" "0.00015586" "01804" "BFSP2_000028" "g.133119337G>A" "" "" "" "BFSP2(NM_003571.4):c.410G>A (p.(Arg137Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000975588" "0" "50" "3" "133191276" "133191276" "subst" "9.37949E-5" "01804" "BFSP2_000029" "g.133191276G>A" "" "" "" "BFSP2(NM_003571.4):c.1111G>A (p.(Glu371Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000993301" "0" "30" "3" "133119046" "133119046" "subst" "1.62543E-5" "01804" "BFSP2_000030" "g.133119046C>A" "" "" "" "BFSP2(NM_003571.2):c.119C>A (p.(Pro40Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001033696" "0" "50" "3" "133185734" "133185734" "subst" "0.000385818" "01804" "BFSP2_000031" "g.133185734G>T" "" "" "" "BFSP2(NM_003571.4):c.954G>T (p.(Arg318Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001033697" "0" "30" "3" "133191385" "133191385" "subst" "0.044842" "01804" "BFSP2_000032" "g.133191385C>A" "" "" "" "BFSP2(NM_003571.4):c.1220C>A (p.(Ala407Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001051510" "0" "30" "3" "133119154" "133119154" "subst" "0.00010567" "01804" "BFSP2_000033" "g.133119154G>A" "" "" "" "BFSP2(NM_003571.4):c.227G>A (p.(Arg76Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001051511" "0" "50" "3" "133169282" "133169282" "subst" "0.000321287" "01804" "BFSP2_000034" "g.133169282G>A" "" "" "" "BFSP2(NM_003571.4):c.865G>A (p.(Glu289Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001058149" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058150" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058151" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058152" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058153" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058154" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058155" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058156" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058157" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058158" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058159" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058160" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058161" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058162" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
"0001058163" "0" "70" "3" "133167457" "133167459" "del" "0" "00006" "BFSP2_000001" "g.133167457_133167459del" "" "{PMID:Guo 2025:40449652}" "" "697_699delGAA" "" "Germline" "" "" "0" "" "" "g.133448613_133448615del" "" "likely pathogenic (dominant)" ""
## 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 BFSP2
## Count = 56
"{{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}}"
"0000096837" "00003379" "90" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" "3"
"0000259257" "00003379" "10" "603" "0" "603" "0" "c.603=" "r.(=)" "p.(Ala201=)" ""
"0000263691" "00003379" "30" "1181" "0" "1181" "0" "c.1181G>A" "r.(?)" "p.(Arg394His)" ""
"0000263692" "00003379" "10" "379" "0" "379" "0" "c.379C>G" "r.(?)" "p.(Gln127Glu)" ""
"0000517995" "00003379" "30" "74" "0" "74" "0" "c.74C>T" "r.(?)" "p.(Ala25Val)" ""
"0000517996" "00003379" "50" "224" "0" "224" "0" "c.224G>A" "r.(?)" "p.(Arg75His)" ""
"0000517998" "00003379" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" ""
"0000621183" "00003379" "30" "246" "0" "246" "0" "c.246T>C" "r.(?)" "p.(Ser82=)" ""
"0000676831" "00003379" "50" "1199" "0" "1199" "0" "c.1199A>T" "r.(?)" "p.(Lys400Met)" ""
"0000719201" "00003379" "50" "155" "0" "155" "0" "c.155G>A" "r.(?)" "p.(Arg52Gln)" ""
"0000719202" "00003379" "70" "403" "0" "403" "0" "c.403C>T" "r.(?)" "p.(Gln135Ter)" ""
"0000719203" "00003379" "50" "517" "0" "517" "0" "c.517C>T" "r.(?)" "p.(Arg173Trp)" ""
"0000736859" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0000801004" "00003379" "90" "489" "1" "489" "1" "c.489+1del" "r.spl?" "p.?" ""
"0000801005" "00003379" "50" "1115" "0" "1115" "0" "c.1115C>T" "r.(?)" "p.(Ala372Val)" ""
"0000801006" "00003379" "50" "1199" "0" "1199" "0" "c.1199A>T" "r.(?)" "p.(Lys400Met)" ""
"0000814451" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0000850143" "00003379" "50" "290" "0" "290" "0" "c.290C>A" "r.(?)" "p.(Pro97Gln)" ""
"0000850144" "00003379" "50" "968" "0" "970" "0" "c.968_970del" "r.(?)" "p.(Asn323del)" ""
"0000873513" "00003379" "70" "113" "0" "113" "0" "c.113G>A" "r.(?)" "p.(Ser38Asn)" ""
"0000885566" "00003379" "70" "595" "0" "595" "0" "c.595C>T" "r.(?)" "p.(Arg199*)" ""
"0000921566" "00003379" "50" "203" "0" "203" "0" "c.203G>A" "r.(?)" "p.(Gly68Asp)" ""
"0000921678" "00003379" "30" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.(Ala201=)" ""
"0000921704" "00003379" "30" "603" "0" "603" "0" "c.603G>A" "r.(?)" "p.(Ala201=)" ""
"0000944649" "00003379" "90" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0000944650" "00003379" "90" "859" "0" "859" "0" "c.859C>T" "r.(?)" "p.(Arg287Trp)" ""
"0000944703" "00003379" "50" "1136" "0" "1136" "0" "c.1136C>A" "r.(?)" "p.(Ala379Glu)" ""
"0000944779" "00003379" "90" "599" "0" "602" "0" "c.599_602dup" "r.(?)" "p.(Ala202GlyfsTer7)" ""
"0000954110" "00003379" "90" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0000954847" "00003379" "90" "598" "0" "599" "0" "c.598_599dup" "r.(?)" "p.(Ala201ArgfsTer19)" ""
"0000954919" "00003379" "50" "265" "0" "265" "0" "c.265C>T" "r.(?)" "p.(Arg89Trp)" ""
"0000954920" "00003379" "50" "437" "0" "437" "0" "c.437G>A" "r.(?)" "p.(Arg146His)" ""
"0000957447" "00003379" "50" "245" "0" "245" "0" "c.245G>A" "r.(?)" "p.(Ser82Asn)" "1"
"0000962485" "00003379" "50" "1199" "0" "1199" "0" "c.1199A>T" "r.(?)" "p.(Lys400Met)" ""
"0000975587" "00003379" "50" "410" "0" "410" "0" "c.410G>A" "r.(?)" "p.(Arg137Gln)" ""
"0000975588" "00003379" "50" "1111" "0" "1111" "0" "c.1111G>A" "r.(?)" "p.(Glu371Lys)" ""
"0000993301" "00003379" "30" "119" "0" "119" "0" "c.119C>A" "r.(?)" "p.(Pro40Gln)" ""
"0001033696" "00003379" "50" "954" "0" "954" "0" "c.954G>T" "r.(?)" "p.(Arg318Ser)" ""
"0001033697" "00003379" "30" "1220" "0" "1220" "0" "c.1220C>A" "r.(?)" "p.(Ala407Asp)" ""
"0001051510" "00003379" "30" "227" "0" "227" "0" "c.227G>A" "r.(?)" "p.(Arg76Gln)" ""
"0001051511" "00003379" "50" "865" "0" "865" "0" "c.865G>A" "r.(?)" "p.(Glu289Lys)" ""
"0001058149" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058150" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058151" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058152" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058153" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058154" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058155" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058156" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058157" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058158" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058159" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058160" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058161" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058162" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
"0001058163" "00003379" "70" "697" "0" "699" "0" "c.697_699del" "r.(?)" "p.(Glu233del)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 31
"{{screeningid}}" "{{variantid}}"
"0000065181" "0000096837"
"0000337229" "0000736859"
"0000386771" "0000814451"
"0000415667" "0000873513"
"0000435547" "0000921566"
"0000435598" "0000921678"
"0000435599" "0000921704"
"0000443254" "0000944649"
"0000443255" "0000944650"
"0000443296" "0000944703"
"0000443366" "0000944779"
"0000445913" "0000954110"
"0000446503" "0000954847"
"0000446559" "0000954919"
"0000446559" "0000954920"
"0000448067" "0000957447"
"0000470068" "0001058149"
"0000470069" "0001058150"
"0000470070" "0001058151"
"0000470071" "0001058152"
"0000470072" "0001058153"
"0000470073" "0001058154"
"0000470074" "0001058155"
"0000470075" "0001058156"
"0000470076" "0001058157"
"0000470077" "0001058158"
"0000470078" "0001058159"
"0000470079" "0001058160"
"0000470080" "0001058161"
"0000470081" "0001058162"
"0000470082" "0001058163"