### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CFL2) # 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}}" "CFL2" "cofilin 2 (muscle)" "14" "q13.2" "unknown" "LRG_213" "UD_132085358175" "" "https://www.LOVD.nl/CFL2" "" "1" "1875" "1073" "601443" "1" "1" "1" "1" "This database is one of the gene variant databases from the:.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CFL2_codingDNA.html" "1" "" "This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages" "-1" "" "-1" "00001" "2009-10-01 00:00:00" "00006" "2019-01-20 14:08:27" "00006" "2024-06-24 16:53:27" ## 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}}" "00005043" "CFL2" "transcript variant 2" "003" "NM_138638.4" "" "NP_619579.1" "" "" "" "-283" "2984" "501" "35184029" "35179588" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00244" "MYOP" "myopathy (MYOP)" "" "" "" "" "" "00006" "2013-10-12 23:00:55" "00006" "2019-06-19 11:52:31" "02971" "NEM7" "myopathy, nemaline, type 7 (NEM-7)" "AR" "610687" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04164" "NEM" "myopathy, nemaline (NEM)" "" "" "" "" "" "00006" "2014-12-22 16:43:09" "00006" "2018-07-06 19:02:59" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "CFL2" "02971" "CFL2" "04164" ## Individuals ## Do not remove or alter this header ## ## Count = 11 "{{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}}" "00081005" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00165290" "" "" "" "1" "" "00006" "Fattori ESHG2018 P10.07" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "Fam1Pat1" "00165291" "" "" "" "3" "" "00006" "Fattori ESHG2018 P10.07" "2-generation family, affected brother and 2 sisters (2F, M), unaffected heterozygous carrier parents" "F;M" "no" "Italy" "" "0" "" "" "" "Fam2Pat1/2/3" "00165292" "" "" "" "1" "" "00006" "{PMID:Ockeloen 2012:22560515}" "5-generation family, 2 affected sisters; older sister" "F" "no" "Iraq" ">21y" "0" "" "" "Kurdish" "22560515-Pat1" "00165293" "" "" "" "1" "" "00006" "{PMID:Ockeloen 2012:22560515}" "5-generation family, 2 affected sisters; younger sister" "F" "no" "Iraq" "" "0" "" "" "Kurdish" "22560515-Pat2" "00165294" "" "" "" "1" "" "00483" "{PMID:Agrawal 2007:17160903}" "older sister of 17160903-Fam1.VIc; 6-generation family, 2 affecteds, 16 heterozygous non-affected carriers" "F" "" "(United States)" "" "0" "" "" "Middle-East" "17160903-Fam1.VIa" "00165295" "" "" "" "1" "" "00483" "{PMID:Agrawal 2007:17160903}" "younger sister of 17160903-Fam1.VIa; 6-generation family, 2 affecteds, 16 heterozygous carriers" "F" "" "(United States)" "" "0" "" "" "Middle-East" "17160903-Fam1.VIc" "00165296" "" "" "" "5" "" "00006" "{PMID:Thirion 2001:11422377}" "" "-" "" "" "" "0" "" "" "" "con" "00165297" "" "" "" "1" "" "00464" "" "" "M" "?" "United States" "" "0" "" "" "Hispanic" "myopathy, nemaline (NEM)" "00208845" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "" "00451604" "" "" "" "1" "" "00534" "" "" "M" "no" "(Australia)" "" "0" "" "" "" "FAM12007" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 10 "{{individualid}}" "{{diseaseid}}" "00081005" "02971" "00165290" "00244" "00165291" "00244" "00165292" "00244" "00165293" "00244" "00165294" "04164" "00165295" "04164" "00165296" "00000" "00165297" "00000" "00451604" "00244" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00244, 02971, 04164 ## Count = 11 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000060574" "02971" "00081005" "01758" "Familial, autosomal recessive" "" "Nemaline myopathy 7, autosomal recessive (OMIM:610687)" "" "" "" "" "" "" "" "" "" "0000130169" "00244" "00165290" "00006" "Familial, autosomal recessive" "" "congenital myopathy, severe" "" "" "" "" "" "" "" "" "" "0000130170" "00244" "00165291" "00006" "Familial, autosomal recessive" "" "congenital myopathy, severe" "" "" "" "" "" "" "" "" "" "0000130171" "00244" "00165292" "00006" "Isolated (sporadic)" "" "predominant axial and limb girdle weakness; 13y-severe kyphoscoliosis; CPK 134 U/l; 6m-sit, 11m-crawl, 2y6m-walk; 21y-loss ambulation" "15y" "" "keeping head straight" "" "" "" "" "" "myopathy, congenital" "0000130172" "00244" "00165293" "00006" "Isolated (sporadic)" "" "predominant axial and limb girdle weakness; 2y7m-hypotonia, hyperextension knees/elbows, waddling gait, Gowers’ sign; >5y-loss ambulation" "2y7m" "" "delayed motor development" "" "" "" "" "" "myopathy, congenital" "0000130173" "04164" "00165294" "00483" "Isolated (sporadic)" "" "typical NEM, but distribution weakness distinct (no significant facial weakness/foot drop); hypotonia at birth, delayed early motor milestones, frequent falls, inability to run; 4y-diagnosis nonspecfic; congenital myopathy, muscle biopsy marked fiber-size variability, type I predominance; 16y-walk short distances; 16y-loss ambulation" "" "" "" "" "" "" "" "NEM-7" "nemaline myopathy" "0000130174" "04164" "00165295" "00483" "Isolated (sporadic)" "" "typical NEM, but distribution weakness distinct (no significant facial weakness/foot drop); 2y-diagnosis NEM muscle biopsy sample nemaline bodies/occasional minicores and concentric laminated bodies; 9y-ambulant" "" "" "" "IHC CFL2 reduced, WB CFL2 reduced, CFL2phos absent" "" "" "" "NEM-7" "nemaline myopathy" "0000130175" "00000" "00165296" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "0000130176" "00000" "00165297" "00464" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "0000157454" "00198" "00208845" "01164" "Unknown" "" "HP:0000544 (External ophthalmoplegia); HP:0003198 (Myopathy)" "" "" "" "" "" "" "" "" "" "0000340280" "05713" "00451604" "00534" "Familial, autosomal recessive" "" "cytoplasmic bodies with a necklace distribution, ringbinden, pronounced vacuolization" "" "30y?" "presented with frequent falls, delayed walking, axial weakness, CK 800" "" "" "" "" "" "myopathy" ## Screenings ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081117" "00081005" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000166168" "00165290" "1" "00006" "00006" "2018-07-06 19:06:27" "" "" "SEQ" "DNA" "" "" "0000166169" "00165291" "1" "00006" "00006" "2018-07-06 19:11:18" "" "" "SEQ" "DNA" "" "" "0000166170" "00165292" "1" "00006" "00006" "2012-10-26 11:01:20" "00006" "2012-10-26 17:55:59" "arraySNP;SEQ" "DNA" "" "" "0000166171" "00165293" "1" "00006" "00006" "2012-10-26 18:08:11" "" "" "arraySNP;SEQ" "DNA" "" "" "0000166172" "00165294" "1" "00483" "00483" "2009-10-17 20:05:27" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000166173" "00165295" "1" "00483" "00483" "2009-10-17 20:05:27" "00006" "2012-03-09 19:02:28" "SEQ" "DNA" "" "" "0000166174" "00165296" "1" "00006" "00006" "2009-10-18 09:19:37" "00006" "2013-02-01 19:44:08" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000166175" "00165297" "1" "00464" "00464" "2013-10-31 15:15:12" "00006" "2013-11-01 17:17:48" "PCR;SEQ" "DNA" "" "" "0000209890" "00208845" "1" "01164" "01164" "2018-12-18 12:12:02" "" "" "SEQ-NG" "DNA" "" "" "0000453206" "00451604" "1" "00534" "00534" "2024-06-13 07:24:31" "" "" "SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 9 "{{screeningid}}" "{{geneid}}" "0000081117" "CFL2" "0000166168" "CFL2" "0000166169" "CFL2" "0000166170" "CFL2" "0000166171" "CFL2" "0000166172" "CFL2" "0000166173" "CFL2" "0000166174" "CFL2" "0000166175" "CFL2" ## 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 = 28 "{{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}}" "0000130203" "3" "70" "14" "35182316" "35182316" "del" "0" "01758" "CFL2_000014" "g.35182316del" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.34713110del" "" "likely pathogenic" "ACMG" "0000249188" "0" "10" "14" "35182360" "35182360" "del" "0" "02325" "CFL2_000017" "g.35182360del" "" "" "" "CFL2(NM_138638.4):c.312-7delT, CFL2(NM_138638.5):c.312-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34713154del" "" "benign" "" "0000252232" "0" "30" "14" "35182360" "35182360" "del" "0" "02326" "CFL2_000015" "g.35182360del" "" "" "" "CFL2(NM_138638.4):c.312-7delT, CFL2(NM_138638.5):c.312-7delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34713154del" "" "likely benign" "" "0000252233" "0" "30" "14" "35182350" "35182350" "subst" "0" "02326" "CFL2_000016" "g.35182350A>G" "" "" "" "CFL2(NM_138638.4):c.312-8T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34713144A>G" "" "likely benign" "" "0000270070" "0" "30" "14" "35182359" "35182360" "del" "0" "02326" "CFL2_000018" "g.35182359_35182360del" "" "" "" "CFL2(NM_021914.7):c.312-8_312-7delTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34713153_34713154del" "" "likely benign" "" "0000350664" "0" "50" "14" "35182752" "35182752" "subst" "0" "02327" "CFL2_000012" "g.35182752C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.34713546C>T" "" "VUS" "" "0000371823" "3" "90" "14" "35182515" "35182515" "subst" "0" "00006" "CFL2_000019" "g.35182515C>G" "" "Fattori ESHG2018 P10.07" "" "" "" "Germline" "" "" "0" "" "" "g.34713309C>G" "" "pathogenic (recessive)" "" "0000371824" "11" "90" "14" "35182536" "35182536" "subst" "0" "00006" "CFL2_000020" "g.35182536C>A" "" "Fattori ESHG2018 P10.07" "" "" "" "Germline" "yes" "" "0" "" "" "g.34713330C>A" "" "pathogenic (recessive)" "" "0000371825" "21" "90" "14" "35182490" "35182490" "del" "0" "00006" "CFL2_000021" "g.35182490del" "" "Fattori ESHG2018 P10.07" "" "281delC" "" "Germline" "yes" "" "0" "" "" "g.34713284del" "" "pathogenic (recessive)" "" "0000371826" "3" "90" "14" "35182752" "35182752" "subst" "0" "00006" "CFL2_000012" "g.35182752C>T" "" "{PMID:Ockeloen 2012:22560515}" "" "" "homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.34713546C>T" "" "pathogenic" "" "0000371827" "3" "90" "14" "35182752" "35182752" "subst" "0" "00006" "CFL2_000012" "g.35182752C>T" "" "{PMID:Ockeloen 2012:22560515}" "" "" "homozygosity mapping" "Germline" "yes" "" "0" "" "" "g.34713546C>T" "" "pathogenic" "" "0000371828" "3" "90" "14" "35182668" "35182668" "subst" "0" "00483" "CFL2_000001" "g.35182668C>T" "" "{PMID:Agrawal 2007:17160903}, {OMIM601443:0001}" "" "" "shared 4.6Mb haplotype; not in 564 control chromosomes" "Germline" "" "" "0" "" "" "g.34713462C>T" "" "pathogenic" "" "0000371829" "3" "90" "14" "35182668" "35182668" "subst" "0" "00483" "CFL2_000001" "g.35182668C>T" "" "{PMID:Agrawal 2007:17160903}, {OMIM601443:0001}" "" "" "shared 4.6Mb haplotype; not in 564 control chromosomes; 4-20x more mRNA" "Germline" "" "" "0" "" "" "g.34713462C>T" "" "pathogenic" "" "0000371830" "0" "10" "14" "35182415" "35182417" "del" "0" "00006" "CFL2_000010" "g.35182415_35182417del" "5/13" "{PMID:Thirion 2001:11422377}" "" "" "" "Germline" "" "rs3835290" "0" "" "" "g.34713209_34713211del" "" "benign" "" "0000371831" "3" "70" "14" "35182301" "35182301" "subst" "0" "00464" "CFL2_000013" "g.35182301G>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.34713095G>T" "" "likely pathogenic" "" "0000371832" "0" "50" "14" "35184228" "35184228" "subst" "0" "00001" "CFL2_000011" "g.35184228C>T" "0.16-0.18" "" "" "" "" "Germline" "" "rs17525727" "0" "" "" "g.34715022C>T" "" "VUS" "" "0000371833" "0" "50" "14" "35184050" "35184050" "dup" "0" "00001" "CFL2_000003" "g.35184050dup" "0.16-0.21" "" "" "" "" "Germline" "" "rs17523478" "0" "" "" "g.34714844dup" "" "VUS" "" "0000371834" "0" "50" "14" "35183987" "35183987" "subst" "0.213154" "00001" "CFL2_000002" "g.35183987G>T" "0.17-0.54" "" "" "" "" "Germline" "" "rs17523485" "0" "" "" "g.34714781G>T" "" "VUS" "" "0000371835" "0" "50" "14" "35183645" "35183645" "subst" "0" "00001" "CFL2_000004" "g.35183645G>A" "0.03-0.50" "" "" "" "" "Germline" "" "rs17523492" "0" "" "" "g.34714439G>A" "" "VUS" "" "0000371836" "0" "50" "14" "35181786" "35181786" "subst" "0.197717" "00001" "CFL2_000005" "g.35181786T>C" "0.12-0.73" "" "" "" "" "Germline" "" "rs9789" "0" "" "" "g.34712580T>C" "" "VUS" "" "0000371837" "0" "50" "14" "35181265" "35181265" "subst" "0" "00001" "CFL2_000006" "g.35181265G>A" "0.23" "" "" "" "" "Germline" "" "rs1059318" "0" "" "" "g.34712059G>A" "" "VUS" "" "0000371838" "0" "50" "14" "35180389" "35180389" "subst" "0.425211" "00001" "CFL2_000007" "g.35180389T>A" "0.35" "" "" "" "" "Germline" "" "rs712301" "0" "" "" "g.34711183T>A" "" "VUS" "" "0000371839" "0" "50" "14" "35180166" "35180166" "subst" "0.00648823" "00001" "CFL2_000008" "g.35180166T>C" "0.00-0.25" "" "" "" "" "Germline" "" "rs41528946" "0" "" "" "g.34710960T>C" "" "VUS" "" "0000371840" "0" "50" "14" "35180033" "35180033" "subst" "0.190748" "00001" "CFL2_000009" "g.35180033C>A" "0.12-0.88" "" "" "" "" "Germline" "" "rs9491" "0" "" "" "g.34710827C>A" "" "VUS" "" "0000371841" "0" "70" "14" "35182668" "35182668" "subst" "0" "00483" "CFL2_000001" "g.35182668C>T" "" "{PMID:Agrawal 2007:17160903}, {OMIM601443:0001}" "" "" "pcDNA-DEST cloned; C2C12 normal expression, bacterial expression reduced stability and/or solubility, probable protein misfolding" "In vitro (cloned)" "" "" "0" "" "" "g.34713462C>T" "" "NA" "" "0000440136" "0" "50" "14" "35182135" "35182135" "subst" "0" "01164" "CFL2_000022" "g.35182135C>G" "" "" "" "" "not regarded causative for phenotype in patient, co-occurrence with pathogenic variant in KIF21A" "Germline" "" "" "0" "" "" "g.34712929C>G" "" "VUS" "ACMG" "0000987729" "11" "50" "14" "35182488" "35182488" "subst" "0" "00534" "CFL2_000023" "g.35182488T>C" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.34713282T>C" "" "VUS" "ACMG" "0000987730" "21" "50" "14" "35182515" "35182515" "subst" "4.06464E-6" "00534" "CFL2_000024" "g.35182515C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.34713309C>T" "" "VUS" "ACMG" ## 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 CFL2 ## Count = 28 "{{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}}" "0000130203" "00005043" "70" "338" "0" "338" "0" "c.338del" "r.(?)" "p.(Ser113Thrfs*3)" "" "0000249188" "00005043" "10" "312" "-7" "312" "-7" "c.312-7del" "r.(=)" "p.(=)" "2i" "0000252232" "00005043" "30" "312" "-7" "312" "-7" "c.312-7del" "r.(=)" "p.(=)" "2i" "0000252233" "00005043" "30" "312" "-8" "312" "-8" "c.312-8T>C" "r.(=)" "p.(=)" "2i" "0000270070" "00005043" "30" "312" "-8" "312" "-7" "c.312-8_312-7del" "r.(=)" "p.(=)" "2i" "0000350664" "00005043" "50" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Val7Met)" "" "0000371823" "00005043" "90" "256" "0" "256" "0" "c.256G>C" "r.(?)" "p.(Asp86His)" "2" "0000371824" "00005043" "90" "235" "0" "235" "0" "c.235G>T" "r.(?)" "p.(Asp79Tyr)" "2" "0000371825" "00005043" "90" "281" "0" "281" "0" "c.281del" "r.(?)" "p.(Ser94Leufs*6)" "2" "0000371826" "00005043" "90" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Val7Met)" "2" "0000371827" "00005043" "90" "19" "0" "19" "0" "c.19G>A" "r.(?)" "p.(Val7Met)" "2" "0000371828" "00005043" "90" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Ala35Thr)" "2" "0000371829" "00005043" "90" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.(Ala35Thr)" "2" "0000371830" "00005043" "10" "311" "51" "311" "53" "c.311+51_311+53del" "r.=" "p.=" "2i" "0000371831" "00005043" "70" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "3" "0000371832" "00005043" "50" "-482" "0" "-482" "0" "c.-482G>A" "r.(=)" "p.(=)" "_1" "0000371833" "00005043" "50" "-297" "0" "-297" "0" "c.-297dup" "r.(=)" "p.(=)" "_1" "0000371834" "00005043" "50" "-241" "0" "-241" "0" "c.-241C>A" "r.(?)" "p.(=)" "1" "0000371835" "00005043" "50" "3" "99" "3" "99" "c.3+99C>T" "r.(=)" "p.(=)" "1i" "0000371836" "00005043" "50" "786" "0" "786" "0" "c.*285A>G" "r.(?)" "p.(=)" "4" "0000371837" "00005043" "50" "1307" "0" "1307" "0" "c.*806C>T" "r.(?)" "p.(=)" "4" "0000371838" "00005043" "50" "2183" "0" "2183" "0" "c.*1682A>T" "r.(?)" "p.(=)" "4" "0000371839" "00005043" "50" "2406" "0" "2406" "0" "c.*1905A>G" "r.(?)" "p.(=)" "4" "0000371840" "00005043" "50" "2539" "0" "2539" "0" "c.*2038G>T" "r.(?)" "p.(=)" "4" "0000371841" "00005043" "70" "103" "0" "103" "0" "c.103G>A" "r.(?)" "p.Ala35Thr" "2" "0000440136" "00005043" "50" "437" "0" "437" "0" "c.437G>C" "r.(?)" "p.Arg146Pro" "" "0000987729" "00005043" "50" "283" "0" "283" "0" "c.283A>G" "r.(?)" "p.(Lys95Glu)" "" "0000987730" "00005043" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Asp86Asn)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{variantid}}" "0000081117" "0000130203" "0000166168" "0000371823" "0000166169" "0000371824" "0000166169" "0000371825" "0000166170" "0000371826" "0000166171" "0000371827" "0000166172" "0000371828" "0000166173" "0000371829" "0000166174" "0000371830" "0000166175" "0000371831" "0000209890" "0000440136" "0000453206" "0000987729" "0000453206" "0000987730"