### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FTL) # 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}}" "FTL" "ferritin, light polypeptide" "19" "q13.33" "unknown" "NG_008152.1" "UD_132118439675" "" "http://www.LOVD.nl/FTL" "" "1" "3999" "2512" "134790" "1" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/FTL_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2014-11-30 15:36:21" "00000" "2026-01-20 18:57:21" ## 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}}" "00008183" "FTL" "ferritin, light polypeptide" "001" "NM_000146.3" "" "NP_000137.2" "" "" "" "-199" "672" "528" "49468566" "49470136" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{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" "01024" "HRFTC" "hyperferritinemia-cataract syndrome" "AD" "600886" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2023-08-04 19:34:12" "01025" "NBIA3" "neurodegeneration, with brain iron accumulation, type 3 (NBIA-3)" "AD" "606159" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04027" "LFTD" "L-ferritin deficiency (LFTD)" "AD;AR" "615604" "" "" "" "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 = 3 "{{geneid}}" "{{diseaseid}}" "FTL" "01024" "FTL" "01025" "FTL" "04027" ## Individuals ## Do not remove or alter this header ## ## Count = 19 "{{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}}" "00024994" "" "" "" "1" "" "00006" "{PMID:Del Castillo-Rueda 2011:21524769}" "" "" "" "Spain" "" "0" "" "" "" "" "00024995" "" "" "" "1" "" "00006" "{PMID:Beaumont 1995:7493028}" "3-generation family" "" "" "France" "" "0" "" "" "" "" "00024996" "" "" "" "2" "" "00006" "{PMID:Aguilar-Martinez 1996:8781450}" "2-generation family, affected boy and father" "M" "no" "France" "" "0" "" "" "" "" "00024997" "" "" "" "11" "" "00006" "{PMID:McLeod 2002:12199804}" "5-generation family, 11 affecteds (5F, 6M)" "" "" "Australia" "" "0" "" "" "" "" "00024998" "" "" "" "2" "" "00006" "{PMID:McLeod 2002:12199804}" "3-generation family, 2 affecteds (father/son)" "M" "" "Australia" "" "0" "" "" "Italian" "" "00024999" "" "" "" "1" "" "00006" "{PMID:McLeod 2002:12199804}" "3-generation family, 1 affected" "M" "" "Australia" "" "0" "" "" "" "" "00025000" "" "" "" "3" "" "00006" "{PMID:Girelli 1995:7669675}" "2-generation family, 3 affecteds (father and son/daugther)" "" "" "Italy" "" "0" "" "" "" "" "00025001" "" "" "" "8" "" "00006" "{PMID:Cazzola 1997:9226182}, {PMID:Girelli 1995:7669675}" "4-generation family, 8 affecteds (4F, 4M)" "" "" "Italy" "" "0" "" "" "" "" "00025002" "" "" "" "3" "" "00006" "{PMID:Cazzola 1997:9226182}" "3-generation family, 3 affecteds (grandfather and 2 grandduagthers)" "" "" "Italy" "" "0" "" "" "" "" "00025003" "" "" "" "28" "" "00006" "{PMID:Shekunov 2011:21907119}" "large multigeneration family, 28 affecteds" "" "" "United States" "" "0" "" "" "German" "" "00025004" "" "" "" "25" "" "00006" "{PMID:Shekunov 2011:21907119}" "large multi-generation family, 25 affecteds" "" "" "United States" "" "0" "" "" "British, German/Austrian" "" "00025005" "" "" "" "6" "" "00006" "{PMID:Girelli 1997:9292547}, {PMID:Girelli 2001:11703332}" "4-generation family, 6 affecteds (3F, 3M)" "" "" "Italy" "" "0" "" "" "" "" "00434129" "" "" "" "2" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/son" "M" "" "China" "" "0" "" "" "" "Fam1PatII1" "00434130" "" "" "" "3" "" "00006" "{PMID:Li 2019:31842807}" "2-generation family, affected mother/2 daughters" "F" "" "China" "" "0" "" "" "" "Fam2PatII1" "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" "00444279" "" "" "" "1" "" "00006" "{PMID:Moon 2021:35052368}" "" "" "" "Korea" "" "0" "" "" "" "Pat38" "00446440" "" "" "" "1" "" "00006" "{PMID:Liu 2023:37337769}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Fam22Pat61" "00469581" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" "TabS5-var7" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 19 "{{individualid}}" "{{diseaseid}}" "00024994" "01024" "00024995" "01024" "00024996" "01024" "00024997" "01024" "00024998" "01024" "00024999" "01024" "00025000" "01024" "00025001" "01024" "00025002" "01024" "00025003" "01024" "00025004" "01024" "00025005" "01024" "00434129" "00296" "00434130" "00296" "00434131" "00296" "00434132" "00296" "00444279" "04214" "00446440" "00296" "00469581" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 00296, 01024, 01025, 04027, 04214 ## Count = 19 "{{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}}" "0000021114" "01024" "00024994" "00006" "Unknown" "" "see paper, in Spanish" "" "" "" "" "" "" "" "" "" "" "" "0000021115" "01024" "00024995" "00006" "Familial, autosomal dominant" "" "hyperferritinemia, cataract; early-onset bilateral cataract, slit-lamp examination demonstrated lens deposits of dust-like spots (pulverulent cataract); elevated circulating ferritin levels; genetic hemochromatosis excluded by liver biopsy (no iron overload but hepatocytes heavy lipofuscin pigment deposit)" "" "" "" "" "" "" "" "" "" "" "" "0000021116" "01024" "00024996" "00006" "Familial, autosomal dominant" "08y" "hyperferritinemia (1,000 wg/L), no evidence iron overload (serum iron/transferrin saturation normal; blood cell counts and acute phase reactant\r\nnormal; hereditary cataract (incl. father, grandfather); father hyperfemtinemia (780,ug/L)" "" "" "" "" "" "" "" "" "" "" "" "0000021117" "01024" "00024997" "00006" "Familial, autosomal dominant" "" "see paper; all members abnormally elevated serum ferritin levels, bilateral cataract (except V4 14y only single fleck one lens)" "" "" "" "" "" "" "" "" "" "" "" "0000021118" "01024" "00024998" "00006" "Familial, autosomal dominant" "" "see paper; bilateral cataracts, hyperferritinaemia" "" "" "" "" "" "" "" "" "" "" "" "0000021119" "01024" "00024999" "00006" "Isolated (sporadic)" "08y" "2y-bilateral cataracts, lens morphology suggestive of HHCS; blood serum ferritin level 1554 ug/l" "" "" "" "" "" "" "" "" "" "" "" "0000021120" "01024" "00025000" "00006" "Familial, autosomal dominant" "" "see paper; congenital bilateral nuclear cataract, serum ferritin 950-2,259 ug/L" "" "" "" "" "" "" "" "" "" "" "" "0000021121" "01024" "00025001" "00006" "Familial, autosomal dominant" "" "see paper; elevated serum ferritin not related to iron overload, congenital nuclear cataract" "" "" "" "" "" "" "" "" "" "" "" "0000021122" "01024" "00025002" "00006" "Familial, autosomal dominant" "" "see paper" "" "" "" "" "" "" "" "" "" "" "" "0000021123" "01024" "00025003" "00006" "Familial, autosomal dominant" "" "see papers; 22 subjects early-onset cataracts and hyperferritinemia" "" "" "" "" "" "" "" "" "" "" "" "0000021124" "01024" "00025004" "00006" "Familial, autosomal dominant" "" "see paper; 9 subjects early-onset cataracts and hyperferritinemia" "" "" "" "" "" "" "" "" "" "" "" "0000021125" "01024" "00025005" "00006" "Familial, autosomal dominant" "" "see paper; congenital bilateral cataract, visual symptoms evident during infancy, glare and slowly progressive loss in visual acuity" "" "" "" "" "" "" "" "" "" "" "" "0000324483" "00296" "00434129" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear cataract, white opacities" "" "" "" "" "" "" "" "" "CTRCT1" "cataract" "" "0000324484" "00296" "00434130" "00006" "Familial, autosomal dominant" "" "see paper; ..., nuclear/lamellar cataract, blue punctate opacities" "" "" "" "" "" "" "" "" "CTRCT14" "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" "" "0000333532" "04214" "00444279" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "congenital cataract" "" "0000335661" "00296" "00446440" "00006" "Isolated (sporadic)" "" "bilateral congenital cataract" "" "" "" "" "" "" "" "" "" "congenital catarct" "" "0000354733" "00198" "00469581" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of metabolism/homeostasis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 19 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000024996" "00024994" "1" "00006" "00006" "2014-11-30 15:38:48" "" "" "SEQ" "DNA" "" "" "0000024997" "00024995" "1" "00006" "00006" "2014-11-30 15:49:57" "" "" "SEQ" "DNA" "" "" "0000024998" "00024996" "1" "00006" "00006" "2014-11-30 16:03:13" "" "" "SEQ;SSCA" "DNA" "" "" "0000024999" "00024997" "1" "00006" "00006" "2014-11-30 16:15:14" "" "" "SEQ" "DNA" "" "" "0000025000" "00024998" "1" "00006" "00006" "2014-11-30 16:21:55" "" "" "SEQ" "DNA" "" "" "0000025001" "00024999" "1" "00006" "00006" "2014-11-30 16:30:45" "" "" "SEQ" "DNA" "" "" "0000025002" "00025000" "1" "00006" "00006" "2014-11-30 16:45:51" "" "" "SEQ;SSCA" "DNA" "" "" "0000025003" "00025001" "1" "00006" "00006" "2014-11-30 16:55:35" "" "" "SEQ" "DNA" "" "" "0000025004" "00025002" "1" "00006" "00006" "2014-11-30 17:02:09" "" "" "SEQ" "DNA" "" "" "0000025005" "00025003" "1" "00006" "00006" "2014-11-30 17:19:59" "" "" "SEQ" "DNA" "" "" "0000025006" "00025004" "1" "00006" "00006" "2014-11-30 17:26:34" "" "" "SEQ" "DNA" "" "" "0000025007" "00025005" "1" "00006" "00006" "2014-11-30 20:22:17" "" "" "SEQ" "DNA" "" "" "0000435596" "00434129" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000435597" "00434130" "1" "00006" "00006" "2023-03-20 14:55:46" "" "" "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" "0000445853" "00444279" "1" "00006" "00006" "2023-12-21 19:04:03" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel" "0000448013" "00446440" "1" "00006" "00006" "2024-01-17 16:49:48" "" "" "SEQ;SEQ-NG" "DNA" "" "792 gene panel" "0000471249" "00469581" "1" "00006" "00006" "2025-11-18 12:45:53" "" "" "arrayCGH" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 12 "{{screeningid}}" "{{geneid}}" "0000024996" "FTL" "0000024997" "FTL" "0000024998" "FTL" "0000024999" "FTL" "0000025000" "FTL" "0000025001" "FTL" "0000025002" "FTL" "0000025003" "FTL" "0000025004" "FTL" "0000025005" "FTL" "0000025006" "FTL" "0000025007" "FTL" ## 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 = 64 "{{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}}" "0000047838" "0" "90" "19" "49468598" "49468598" "subst" "0" "00006" "FTL_000025" "g.49468598C>T" "" "{PMID:Del Castillo-Rueda 2011:21524769}" "" "" "" "Unknown" "" "" "0" "" "" "g.48965341C>T" "" "pathogenic" "" "0000047839" "1" "90" "19" "49468605" "49468605" "subst" "0" "00006" "FTL_000001" "g.49468605A>G" "" "{PMID:Beaumont 1995:07493028}, {OMIM134790:0001}" "" "40A>G" "variant in IRE loop; abolished IRP finding in vitro, leads to a high constitutive, poorly regulated L-ferritin synthesis in cultured lymphoblastoid cells" "Germline" "yes" "rs398124633" "0" "" "" "g.48965348A>G" "" "pathogenic" "" "0000047840" "11" "90" "19" "49468605" "49468605" "subst" "0" "00006" "FTL_000001" "g.49468605A>G" "" "{PMID:Aguilar-Martinez 1996:08781450}, {OMIM134790:0001}" "" "146A>G" "" "Germline" "yes" "rs398124633" "0" "" "" "g.48965348A>G" "" "pathogenic" "" "0000047841" "1" "90" "19" "49468605" "49468605" "subst" "0" "00006" "FTL_000001" "g.49468605A>G" "" "{PMID:McLeod 2002:12199804}, {OMIM134790:0001}" "" "40A>G" "" "Germline" "yes" "" "0" "" "" "g.48965348A>G" "" "pathogenic" "" "0000047842" "0" "90" "19" "49468604" "49468604" "subst" "0" "00006" "FTL_000026" "g.49468604C>A" "" "{PMID:McLeod 2002:12199804}, {OMIM134790:0007}" "" "39C>A" "" "Germline" "yes" "" "0" "" "" "g.48965347C>A" "" "pathogenic" "" "0000047843" "0" "90" "19" "49468597" "49468597" "subst" "0" "00006" "FTL_000006" "g.49468597G>T" "" "{PMID:McLeod 2002:12199804}, {OMIM134790:0006}" "" "32G>T" "" "De novo" "-" "rs398124635" "0" "" "" "g.48965340G>T" "" "pathogenic" "" "0000047844" "11" "90" "19" "49468606" "49468606" "subst" "0" "00006" "FTL_000002" "g.49468606G>C" "" "{PMID:Girelli 1995:07492760}, {OMIM134790:0002}" "" "147G>C" "" "Germline" "yes" "rs398124634" "0" "" "" "g.48965349G>C" "" "pathogenic" "" "0000047845" "1" "90" "19" "49468597" "49468597" "subst" "0" "00006" "FTL_000003" "g.49468597G>A" "" "{PMID:Cazzola 1997:09226182}, {OMIM134790:0003}" "" "G32A" "reduced interaction between IRE and binding protein in gel retardation assays (effect stronger then for double variant)" "Germline" "yes" "rs398124635" "0" "" "" "g.48965340G>A" "" "pathogenic" "" "0000047846" "1" "70" "19" "49468583" "49468583" "subst" "0" "00006" "FTL_000027" "g.49468583C>T" "" "{PMID:Cazzola 1997:09226182}, {OMIM134790:0004}" "SacII-" "18C>T" "double variant; reduced interaction between IRE and binding protein in gel retardation assays (effect less then for -168G>A)" "Germline" "yes" "" "0" "" "" "g.48965326C>T" "" "likely pathogenic" "" "0000047847" "1" "70" "19" "49468587" "49468587" "subst" "0" "00006" "FTL_000004" "g.49468587T>G" "" "{PMID:Cazzola 1997:09226182}, {OMIM134790:0004}" "" "22T>G" "double variant; reduced interaction between IRE and binding protein in gel retardation assays (effect less then for -168G>A)" "Germline" "yes" "" "0" "" "" "g.48965330T>G" "" "likely pathogenic" "" "0000047848" "1" "90" "19" "49468597" "49468597" "subst" "0" "00006" "FTL_000003" "g.49468597G>A" "" "{PMID:Shekunov 2011:21907119}, {OMIM134790:0003}" "" "32G>A" "" "Germline" "yes" "" "0" "" "" "g.48965340G>A" "" "pathogenic" "" "0000047849" "1" "90" "19" "49468597" "49468597" "subst" "0" "00006" "FTL_000006" "g.49468597G>T" "" "{PMID:Shekunov 2011:21907119}, {OMIM134790:0006}" "" "32G>T" "" "Germline" "yes" "" "0" "" "" "g.48965340G>T" "" "pathogenic" "" "0000047850" "1" "90" "19" "49468576" "49468604" "del" "0" "00006" "FTL_000005" "g.49468576_49468604del" "" "{PMID:Girelli 1997:09292547}, {OMIM134790:0005}" "" "10-38del" "" "Germline" "yes" "" "0" "" "" "g.48965319_48965347del" "" "pathogenic" "" "0000249577" "0" "30" "19" "49469013" "49469013" "subst" "2.84354E-5" "02325" "FTL_000029" "g.49469013A>G" "" "" "" "FTL(NM_000146.4):c.103-14A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965756A>G" "" "likely benign" "" "0000254627" "0" "30" "19" "49469172" "49469172" "subst" "4.06745E-6" "01943" "FTL_000032" "g.49469172A>G" "" "" "" "FTL(NM_000146.3):c.248A>G (p.K83R, p.(Lys83Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965915A>G" "" "likely benign" "" "0000280929" "0" "10" "19" "49469087" "49469087" "subst" "0.500012" "02325" "FTL_000030" "g.49469087T>C" "" "" "" "FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.(Leu55=), p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965830T>C" "" "benign" "" "0000281213" "0" "90" "19" "49473114" "49473114" "subst" "0" "02325" "GYS1_000002" "g.49473114T>C" "" "" "" "GYS1(NM_002103.5):c.1810-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48969857T>C" "" "pathogenic" "" "0000283320" "0" "10" "19" "49469087" "49469087" "subst" "0.500012" "02329" "FTL_000030" "g.49469087T>C" "" "" "" "FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.(Leu55=), p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965830T>C" "" "benign" "" "0000287971" "0" "90" "19" "49468604" "49468605" "del" "0" "01943" "FTL_000028" "g.49468604_49468605del" "" "" "" "FTL(NM_000146.3):c.-161_-160delCA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965347_48965348del" "" "pathogenic" "" "0000287972" "0" "90" "19" "49468598" "49468598" "subst" "0" "01943" "FTL_000025" "g.49468598C>T" "" "" "" "FTL(NM_000146.3):c.-167C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965341C>T" "" "pathogenic" "" "0000287973" "0" "90" "19" "49468597" "49468597" "subst" "0" "01943" "FTL_000003" "g.49468597G>A" "" "" "" "FTL(NM_000146.3):c.-168G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965340G>A" "" "pathogenic" "" "0000287974" "0" "10" "19" "49469087" "49469087" "subst" "0.500012" "01943" "FTL_000030" "g.49469087T>C" "" "" "" "FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.(Leu55=), p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965830T>C" "" "benign" "" "0000287975" "0" "30" "19" "49469114" "49469114" "subst" "8.12229E-6" "01943" "FTL_000031" "g.49469114G>A" "" "" "" "FTL(NM_000146.3):c.190G>A (p.E64K, p.(Glu64Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965857G>A" "" "likely benign" "" "0000326688" "0" "50" "19" "49472804" "49472804" "subst" "0" "01804" "GYS1_000001" "g.49472804G>A" "" "" "" "GYS1(NM_001161587.1):c.1763C>T (p.(Ser588Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48969547G>A" "" "VUS" "" "0000340203" "0" "10" "19" "49469087" "49469087" "subst" "0.500012" "02327" "FTL_000030" "g.49469087T>C" "" "" "" "FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.(Leu55=), p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965830T>C" "" "benign" "" "0000340803" "0" "10" "19" "49469986" "49469986" "subst" "0.00222543" "02327" "FTL_000033" "g.49469986C>T" "" "" "" "FTL(NM_000146.3):c.522C>T (p.H174=), FTL(NM_000146.4):c.522C>T (p.H174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48966729C>T" "" "benign" "" "0000351256" "0" "90" "19" "49468597" "49468597" "subst" "0" "02327" "FTL_000003" "g.49468597G>A" "" "" "" "FTL(NM_000146.3):c.-168G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.48965340G>A" "" "pathogenic" "" "0000567931" "0" "90" "19" "49468597" "49468597" "subst" "0" "02327" "BAX_000001" "g.49468597G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48965340G>C" "" "pathogenic" "" "0000567933" "0" "50" "19" "49469927" "49469927" "subst" "8.12222E-6" "01943" "BAX_000003" "g.49469927C>T" "" "" "" "FTL(NM_000146.3):c.463C>T (p.L155=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48966670C>T" "" "VUS" "" "0000567934" "0" "50" "19" "49469953" "49469953" "subst" "4.06068E-6" "01943" "BAX_000004" "g.49469953C>T" "" "" "" "FTL(NM_000146.3):c.489C>T (p.G163=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48966696C>T" "" "VUS" "" "0000567936" "0" "30" "19" "49469986" "49469986" "subst" "0.00222543" "01943" "FTL_000033" "g.49469986C>T" "" "" "" "FTL(NM_000146.3):c.522C>T (p.H174=), FTL(NM_000146.4):c.522C>T (p.H174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48966729C>T" "" "likely benign" "" "0000567937" "0" "30" "19" "49469986" "49469986" "subst" "0.00222543" "02325" "FTL_000033" "g.49469986C>T" "" "" "" "FTL(NM_000146.3):c.522C>T (p.H174=), FTL(NM_000146.4):c.522C>T (p.H174=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48966729C>T" "" "likely benign" "" "0000617739" "0" "90" "19" "49468604" "49468604" "subst" "0" "02327" "BAX_000006" "g.49468604C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48965347C>T" "" "pathogenic" "" "0000617740" "0" "30" "19" "49468652" "49468652" "subst" "0" "02327" "BAX_000007" "g.49468652G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48965395G>A" "" "likely benign" "" "0000617741" "0" "50" "19" "49468847" "49468847" "subst" "0" "02327" "BAX_000009" "g.49468847C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48965590C>G" "" "VUS" "" "0000624049" "0" "90" "19" "49468765" "49468765" "subst" "1.21981E-5" "01943" "BAX_000008" "g.49468765A>G" "" "" "" "FTL(NM_000146.3):c.1A>G (p.M1?, p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48965508A>G" "" "pathogenic" "" "0000624050" "0" "50" "19" "49469900" "49469900" "subst" "3.65649E-5" "01943" "BAX_000010" "g.49469900G>A" "" "" "" "FTL(NM_000146.3):c.436G>A (p.G146S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48966643G>A" "" "VUS" "" "0000658628" "0" "30" "19" "49468837" "49468837" "subst" "0.000410149" "01943" "BAX_000011" "g.49468837C>T" "" "" "" "FTL(NM_000146.3):c.73C>T (p.L25=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.48965580C>T" "" "likely benign" "" "0000681475" "0" "30" "19" "49469657" "49469657" "subst" "1.62549E-5" "01943" "BAX_000012" "g.49469657C>T" "" "" "" "FTL(NM_000146.3):c.369C>T (p.D123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000727473" "0" "90" "19" "49468597" "49468597" "subst" "0" "02327" "FTL_000006" "g.49468597G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000727474" "0" "90" "19" "49469547" "49469547" "subst" "0" "01943" "BAX_000013" "g.49469547G>T" "" "" "" "FTL(NM_000146.3):c.259G>T (p.E87*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000808975" "0" "30" "19" "49472767" "49472767" "subst" "0" "01943" "FTL_000035" "g.49472767C>A" "" "" "" "GYS1(NM_002103.4):c.1992G>T (p.R664=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000855656" "0" "50" "19" "49468766" "49468766" "subst" "0" "01943" "BAX_000014" "g.49468766T>G" "" "" "" "FTL(NM_000146.3):c.2T>G (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000855657" "0" "50" "19" "49469054" "49469054" "subst" "8.12381E-6" "01943" "BAX_000015" "g.49469054G>C" "" "" "" "FTL(NM_000146.3):c.130G>C (p.A44P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000866216" "0" "10" "19" "49469087" "49469087" "subst" "0.500012" "02326" "FTL_000030" "g.49469087T>C" "" "" "" "FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.(Leu55=), p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000915271" "0" "30" "19" "49469991" "49469991" "subst" "4.06101E-6" "02327" "BAX_000016" "g.49469991A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000921644" "3" "30" "19" "49469087" "49469087" "subst" "0.500012" "00006" "FTL_000030" "g.49469087T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2230267" "0" "" "" "g.48965830T>C" "" "likely benign" "" "0000921666" "0" "30" "19" "49469087" "49469087" "subst" "0.500012" "00006" "FTL_000030" "g.49469087T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2230267" "0" "" "" "g.48965830T>C" "" "likely benign" "" "0000921697" "0" "30" "19" "49469087" "49469087" "subst" "0.500012" "00006" "FTL_000030" "g.49469087T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2230267" "0" "" "" "g.48965830T>C" "" "likely benign" "" "0000921721" "3" "30" "19" "49469087" "49469087" "subst" "0.500012" "00006" "FTL_000030" "g.49469087T>C" "" "{PMID:Li 2019:31842807}" "" "" "" "Germline" "" "rs2230267" "0" "" "" "g.48965830T>C" "" "likely benign" "" "0000931082" "0" "50" "19" "49469079" "49469079" "subst" "3.65542E-5" "01804" "BAX_000017" "g.49469079T>G" "" "" "" "FTL(NM_000146.3):c.155T>G (p.(Phe52Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000931083" "0" "50" "19" "49469146" "49469147" "ins" "0" "02325" "BAX_000018" "g.49469146_49469147insCCAC" "" "" "" "FTL(NM_000146.4):c.222_223insCCAC (p.G75Pfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000954038" "21" "90" "19" "49468597" "49468597" "subst" "0" "00006" "FTL_000006" "g.49468597G>T" "" "{PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "g.48965340G>T" "" "pathogenic" "" "0000957393" "0" "70" "19" "49469620" "49469620" "subst" "0" "00006" "FTL_000036" "g.49469620T>C" "" "{PMID:Liu 2023:37337769}" "" "" "" "De novo" "" "rs111736650" "0" "" "" "g.48966363T>C" "rs111736650" "likely pathogenic (dominant)" "" "0001004974" "0" "90" "19" "49468598" "49468598" "subst" "0" "02327" "FTL_000025" "g.49468598C>T" "" "" "" "FTL(NM_000146.3):c.-167C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004975" "0" "90" "19" "49468605" "49468605" "subst" "0" "02327" "FTL_000001" "g.49468605A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001004976" "0" "50" "19" "49468765" "49468765" "subst" "1.21981E-5" "01804" "BAX_000008" "g.49468765A>G" "" "" "" "FTL(NM_000146.3):c.1A>G (p.M1?, p.(Met1?))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001004977" "0" "30" "19" "49469114" "49469114" "subst" "8.12229E-6" "01804" "FTL_000031" "g.49469114G>A" "" "" "" "FTL(NM_000146.3):c.190G>A (p.E64K, p.(Glu64Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004978" "0" "30" "19" "49469172" "49469172" "subst" "4.06745E-6" "01804" "FTL_000032" "g.49469172A>G" "" "" "" "FTL(NM_000146.3):c.248A>G (p.K83R, p.(Lys83Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001004979" "0" "90" "19" "49469598" "49469598" "subst" "1.62468E-5" "01804" "BAX_000019" "g.49469598G>T" "" "" "" "FTL(NM_000146.3):c.310G>T (p.(Glu104*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001056748" "0" "10" "19" "49469087" "49469087" "subst" "0.500012" "01804" "FTL_000030" "g.49469087T>C" "" "" "" "FTL(NM_000146.3):c.163T>C (p.L55=), FTL(NM_000146.4):c.163T>C (p.(Leu55=), p.L55=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001057714" "0" "90" "19" "49468597" "49468597" "subst" "0" "03779" "FTL_000006" "g.49468597G>T" "" "" "" "" "" "Unknown" "" "rs398124635" "0" "" "" "" "" "pathogenic" "" "0001059386" "21" "90" "19" "" "" "" "" "00006" "FTL_000037" "g.(49469174_49469537d)_(49470136_?)del" "" "{PMID:Retterer 2016:26633542}" "" "del ex3-4" "" "Germline" "" "" "0" "" "" "g.(48965917_48966280)_(48966879_?)del" "" "pathogenic" "" "0001067242" "0" "50" "19" "49468615" "49468615" "subst" "0" "02325" "BAX_000020" "g.49468615C>G" "" "" "" "" "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 FTL ## Count = 64 "{{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}}" "0000047838" "00008183" "90" "-167" "0" "-167" "0" "c.-167C>T" "r.(?)" "p.(=)" "1" "0000047839" "00008183" "90" "-160" "0" "-160" "0" "c.-160A>G" "r.(?)" "p.(?)" "1" "0000047840" "00008183" "90" "-160" "0" "-160" "0" "c.-160A>G" "r.(?)" "p.(?)" "1" "0000047841" "00008183" "90" "-160" "0" "-160" "0" "c.-160A>G" "r.(?)" "p.(=)" "1" "0000047842" "00008183" "90" "-161" "0" "-161" "0" "c.-161C>A" "r.(?)" "p.(?)" "1" "0000047843" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>T" "r.(?)" "p.(?)" "1" "0000047844" "00008183" "90" "-159" "0" "-159" "0" "c.-159G>C" "r.(?)" "p.(?)" "1" "0000047845" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>A" "r.(?)" "p.(?)" "1" "0000047846" "00008183" "70" "-182" "0" "-182" "0" "c.-182C>T" "r.(?)" "p.(?)" "1" "0000047847" "00008183" "70" "-178" "0" "-178" "0" "c.-178T>G" "r.(?)" "p.(?)" "1" "0000047848" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>A" "r.(?)" "p.(?)" "1" "0000047849" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>T" "r.(?)" "p.(?)" "1" "0000047850" "00008183" "90" "-189" "0" "-161" "0" "c.-189_-161del" "r.(del)" "p.(?)" "1" "0000249577" "00008183" "30" "103" "-14" "103" "-14" "c.103-14A>G" "r.(=)" "p.(=)" "" "0000254627" "00008183" "30" "248" "0" "248" "0" "c.248A>G" "r.(?)" "p.(Lys83Arg)" "" "0000280929" "00008183" "10" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000281213" "00008183" "90" "3650" "0" "3650" "0" "c.*3122T>C" "r.(=)" "p.(=)" "" "0000283320" "00008183" "10" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000287971" "00008183" "90" "-161" "0" "-160" "0" "c.-161_-160del" "r.(?)" "p.(=)" "" "0000287972" "00008183" "90" "-167" "0" "-167" "0" "c.-167C>T" "r.(?)" "p.(=)" "" "0000287973" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>A" "r.(?)" "p.(=)" "" "0000287974" "00008183" "10" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000287975" "00008183" "30" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Glu64Lys)" "" "0000326688" "00008183" "50" "3340" "0" "3340" "0" "c.*2812G>A" "r.(=)" "p.(=)" "" "0000340203" "00008183" "10" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000340803" "00008183" "10" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(His174=)" "" "0000351256" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>A" "r.(?)" "p.(=)" "" "0000567931" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>C" "r.(?)" "p.(=)" "" "0000567933" "00008183" "50" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Leu155=)" "" "0000567934" "00008183" "50" "489" "0" "489" "0" "c.489C>T" "r.(?)" "p.(Gly163=)" "" "0000567936" "00008183" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(His174=)" "" "0000567937" "00008183" "30" "522" "0" "522" "0" "c.522C>T" "r.(?)" "p.(His174=)" "" "0000617739" "00008183" "90" "-161" "0" "-161" "0" "c.-161C>T" "r.(?)" "p.(=)" "" "0000617740" "00008183" "30" "-113" "0" "-113" "0" "c.-113G>A" "r.(?)" "p.(=)" "" "0000617741" "00008183" "50" "83" "0" "83" "0" "c.83C>G" "r.(?)" "p.(Ser28Cys)" "" "0000624049" "00008183" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000624050" "00008183" "50" "436" "0" "436" "0" "c.436G>A" "r.(?)" "p.(Gly146Ser)" "" "0000658628" "00008183" "30" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Leu25=)" "" "0000681475" "00008183" "30" "369" "0" "369" "0" "c.369C>T" "r.(?)" "p.(Asp123=)" "" "0000727473" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>T" "r.(?)" "p.(=)" "" "0000727474" "00008183" "90" "259" "0" "259" "0" "c.259G>T" "r.(?)" "p.(Glu87*)" "" "0000808975" "00008183" "30" "3303" "0" "3303" "0" "c.*2775C>A" "r.(=)" "p.(=)" "" "0000855656" "00008183" "50" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000855657" "00008183" "50" "130" "0" "130" "0" "c.130G>C" "r.(?)" "p.(Ala44Pro)" "" "0000866216" "00008183" "10" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000915271" "00008183" "30" "527" "0" "527" "0" "c.527A>G" "r.(?)" "p.(*176=)" "" "0000921644" "00008183" "30" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000921666" "00008183" "30" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000921697" "00008183" "30" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000921721" "00008183" "30" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0000931082" "00008183" "50" "155" "0" "155" "0" "c.155T>G" "r.(?)" "p.(Phe52Cys)" "" "0000931083" "00008183" "50" "222" "0" "223" "0" "c.222_223insCCAC" "r.(?)" "p.(Gly75Profs*14)" "" "0000954038" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>T" "r.?" "p.?" "" "0000957393" "00008183" "70" "332" "0" "332" "0" "c.332T>C" "r.(?)" "p.(Leu111Pro)" "3" "0001004974" "00008183" "90" "-167" "0" "-167" "0" "c.-167C>T" "r.(?)" "p.(=)" "" "0001004975" "00008183" "90" "-160" "0" "-160" "0" "c.-160A>G" "r.(?)" "p.(=)" "" "0001004976" "00008183" "50" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0001004977" "00008183" "30" "190" "0" "190" "0" "c.190G>A" "r.(?)" "p.(Glu64Lys)" "" "0001004978" "00008183" "30" "248" "0" "248" "0" "c.248A>G" "r.(?)" "p.(Lys83Arg)" "" "0001004979" "00008183" "90" "310" "0" "310" "0" "c.310G>T" "r.(?)" "p.(Glu104*)" "" "0001056748" "00008183" "10" "163" "0" "163" "0" "c.163T>C" "r.(?)" "p.(Leu55=)" "" "0001057714" "00008183" "90" "-168" "0" "-168" "0" "c.-168G>T" "r.(?)" "p.(?)" "" "0001059386" "00008183" "90" "" "0" "" "0" "c.(249+1_250-1)_(*144_?)del" "r.?" "p.?" "2i_4_" "0001067242" "00008183" "50" "-150" "0" "-150" "0" "c.-150C>G" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 20 "{{screeningid}}" "{{variantid}}" "0000024996" "0000047838" "0000024997" "0000047839" "0000024998" "0000047840" "0000024999" "0000047841" "0000025000" "0000047842" "0000025001" "0000047843" "0000025002" "0000047844" "0000025003" "0000047845" "0000025004" "0000047846" "0000025004" "0000047847" "0000025005" "0000047848" "0000025006" "0000047849" "0000025007" "0000047850" "0000435596" "0000921644" "0000435597" "0000921666" "0000435598" "0000921697" "0000435599" "0000921721" "0000445853" "0000954038" "0000448013" "0000957393" "0000471249" "0001059386"