### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOLR1) # 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}}" "FOLR1" "folate receptor 1 (adult)" "11" "q13.3-q14.1" "unknown" "NC_000011.9" "UD_132084462725" "" "https://www.LOVD.nl/FOLR1" "" "1" "3791" "2348" "136430" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-11-07 09:11:33" "00000" "2026-01-20 18:57:21" ## Transcripts ## Do not remove or alter this header ## ## Count = 2 "{{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}}" "00008055" "FOLR1" "transcript variant 1" "002" "NM_016725.2" "" "NP_057937.1" "" "" "" "-210" "920" "774" "71900602" "71907367" "" "0000-00-00 00:00:00" "" "" "00026026" "FOLR1" "transcript variant 4 (expired, new version available)" "004" "NM_016729.3" "" "NP_057941.1" "" "" "MANE select" "-45" "920" "774" "71903173" "71907367" "00006" "2025-11-07 09:09:19" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{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" "03238" "NCFTD" "neurodegeneration due to cerebral folate deficiency" "AR" "613068" "" "autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2025-11-07 09:10:39" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "FOLR1" "03238" ## Individuals ## Do not remove or alter this header ## ## Count = 6 "{{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}}" "00081087" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected parents" "" "" "" "" "0" "" "" "" "" "00180176" "" "" "" "1" "" "00006" "{PMID:Tumienė 2018:29286531}" "" "" "" "(Slovenia)" "" "0" "" "" "" "29286531-Pat28" "00290530" "" "" "" "49" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00374738" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1933" "00468028" "" "" "" "2" "" "00006" "{PMID:Ohba 2013:24091540}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "Japan" "" "0" "" "" "" "FamPat1A" "00468029" "" "" "00468028" "1" "" "00006" "{PMID:Ohba 2013:24091540}" "sister" "F" "" "Japan" "" "0" "" "" "" "FamPat1B" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{individualid}}" "{{diseaseid}}" "00081087" "03238" "00180176" "00198" "00290530" "00198" "00374738" "00198" "00468028" "00198" "00468029" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03238 ## Count = 5 "{{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}}" "0000060656" "03238" "00081087" "01758" "Familial, autosomal recessive" "" "Neurodegeneration due to cerebral folate transport deficiency (OMIM:613068)" "" "" "" "" "" "" "" "" "" "" "" "0000142630" "00198" "00180176" "00006" "Familial, autosomal recessive" "" "Epileptic encephalopathy (HP:0200134), global developmental delay (HP:0001263)." "" "" "" "" "" "" "" "" "neurodegeneration due to cerebral folate deficiency" "epilepsy or seizures associated with neurodevelopmental disorders and/or congenital malformations" "" "0000269948" "00198" "00374738" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000353180" "00198" "00468028" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., ataxia; no dysmetria; no oculomotor apraxia; intention tremor; developmental delay; intellectual disability; slurred speech, three-word sentences; mild hypotonia/spastic lower limbs; pyramidal sign; no extrapyramidal sign; no peripheral neuropathy; epileptic seizure; low IgG; MRI cerebellar atrophy/hypoplasia, mild brainstem atrophy, cerebral white matter atrophy, calcification at subcortical white matter" "1y" "" "ataxic gait" "" "" "" "" "" "NCFTD" "ataxic gait" "" "0000353181" "00198" "00468029" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., ataxia; no dysmetria; no oculomotor apraxia; intention tremor; developmental delay; intellectual disability; slurred speech, three-word sentences; mild hypotonia; no pyramidal sign; no extrapyramidal sign; epileptic seizure;  ; MRI cerebellar atrophy/hypoplasia, no brainstem atrophy, calcification at basal ganglia and subcortical white matter" "2y" "" "ataxic gait" "" "" "" "" "" "NCFTD" "ataxic gait" "" ## Screenings ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000081199" "00081087" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000181079" "00180176" "1" "00006" "00006" "2018-08-24 19:40:22" "" "" "SEQ-NG" "DNA" "" "WES" "0000291698" "00290530" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000375932" "00374738" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000469694" "00468028" "1" "00006" "00006" "2025-11-07 09:37:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000469695" "00468029" "1" "00006" "00006" "2025-11-07 09:37:50" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000081199" "FOLR1" "0000181079" "FOLR1" "0000375932" "FOLR1" ## 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 = 26 "{{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}}" "0000130285" "3" "90" "11" "71906696" "71906696" "subst" "0" "01758" "FOLR1_000001" "g.71906696C>A" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "Germline" "" "" "0" "" "" "g.72195652C>A" "" "pathogenic" "ACMG" "0000256330" "0" "50" "11" "71903230" "71903230" "subst" "4.87523E-5" "01943" "FOLR1_000002" "g.71903230A>G" "" "" "" "FOLR1(NM_016724.2):c.13A>G (p.M5V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72192186A>G" "" "VUS" "" "0000280856" "0" "30" "11" "71906438" "71906438" "subst" "0.00338348" "02325" "FOLR1_000005" "g.71906438C>T" "" "" "" "FOLR1(NM_016724.2):c.292C>T (p.R98W), FOLR1(NM_016724.3):c.292C>T (p.R98W), FOLR1(NM_016725.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195394C>T" "" "likely benign" "" "0000280857" "0" "50" "11" "71906489" "71906489" "subst" "4.06263E-6" "02325" "FOLR1_000006" "g.71906489C>T" "" "" "" "FOLR1(NM_016724.3):c.343C>T (p.P115S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195445C>T" "" "VUS" "" "0000280858" "0" "90" "11" "71906793" "71906793" "subst" "0.00335936" "02325" "FOLR1_000007" "g.71906793T>C" "" "" "" "FOLR1(NM_016724.2):c.493+2T>C, FOLR1(NM_016724.3):c.493+2T>C, FOLR1(NM_016725.3):c.493+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195749T>C" "" "pathogenic" "" "0000284071" "0" "10" "11" "71906221" "71906221" "subst" "0" "02326" "FOLR1_000004" "g.71906221T>G" "" "" "" "FOLR1(NM_016725.3):c.169-94T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195177T>G" "" "benign" "" "0000284072" "0" "30" "11" "71906438" "71906438" "subst" "0.00338348" "02326" "FOLR1_000005" "g.71906438C>T" "" "" "" "FOLR1(NM_016724.2):c.292C>T (p.R98W), FOLR1(NM_016724.3):c.292C>T (p.R98W), FOLR1(NM_016725.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195394C>T" "" "likely benign" "" "0000284073" "0" "30" "11" "71906803" "71906803" "subst" "2.03095E-5" "02326" "FOLR1_000008" "g.71906803G>A" "" "" "" "FOLR1(NM_016725.3):c.493+12G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195759G>A" "" "likely benign" "" "0000284074" "0" "50" "11" "71906793" "71906793" "subst" "0.00335936" "02326" "FOLR1_000007" "g.71906793T>C" "" "" "" "FOLR1(NM_016724.2):c.493+2T>C, FOLR1(NM_016724.3):c.493+2T>C, FOLR1(NM_016725.3):c.493+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195749T>C" "" "VUS" "" "0000284075" "0" "70" "11" "71907009" "71907009" "subst" "8.12216E-6" "02326" "FOLR1_000009" "g.71907009C>G" "" "" "" "FOLR1(NM_016725.3):c.562C>G (p.L188V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195965C>G" "" "likely pathogenic" "" "0000287834" "0" "10" "11" "71906438" "71906438" "subst" "0.00338348" "01943" "FOLR1_000005" "g.71906438C>T" "" "" "" "FOLR1(NM_016724.2):c.292C>T (p.R98W), FOLR1(NM_016724.3):c.292C>T (p.R98W), FOLR1(NM_016725.3):c.292C>T (p.R98W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72195394C>T" "" "benign" "" "0000322411" "0" "50" "11" "71903239" "71903239" "subst" "3.65628E-5" "01804" "FOLR1_000003" "g.71903239C>A" "" "" "" "FOLR1(NM_000802.3):c.22C>A (p.(Gln8Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72192195C>A" "" "VUS" "" "0000343655" "0" "90" "11" "71907112" "71907112" "subst" "4.06223E-5" "02327" "FOLR1_000010" "g.71907112A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.72196068A>G" "" "pathogenic" "" "0000404715" "3" "70" "11" "71906433" "71906433" "subst" "0" "00006" "FOLR1_000011" "g.71906433G>A" "" "{PMID:Tumienė 2018:29286531}" "" "" "" "Germline" "" "" "0" "" "" "g.72195389G>A" "" "likely pathogenic" "ACMG" "0000545653" "0" "30" "11" "71906467" "71906467" "subst" "0.00047932" "02326" "FOLR1_000012" "g.71906467C>T" "" "" "" "FOLR1(NM_016725.3):c.321C>T (p.Y107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72195423C>T" "" "likely benign" "" "0000545654" "0" "50" "11" "71906793" "71906793" "subst" "0.00335936" "01943" "FOLR1_000007" "g.71906793T>C" "" "" "" "FOLR1(NM_016724.2):c.493+2T>C, FOLR1(NM_016724.3):c.493+2T>C, FOLR1(NM_016725.3):c.493+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.72195749T>C" "" "VUS" "" "0000648387" "1" "50" "11" "71906793" "71906793" "subst" "0.00335936" "03575" "FOLR1_000007" "g.71906793T>C" "49/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 49 heterozygous, no homozygous; {DB:CLININrs144637717}" "Germline" "" "rs144637717" "0" "" "" "g.72195749T>C" "" "VUS" "" "0000691186" "0" "30" "11" "71903374" "71903374" "subst" "0.000223448" "02326" "FOLR1_000013" "g.71903374T>C" "" "" "" "FOLR1(NM_016724.3):c.157T>C (p.L53=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000787283" "3" "50" "11" "71906793" "71906797" "del" "0" "00006" "FOLR1_000014" "g.71906793_71906797del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.493+2_493+6delTGAGG" "" "Germline" "" "" "0" "" "" "g.72195749_72195753del" "" "VUS" "" "0000853167" "0" "30" "11" "71907166" "71907166" "subst" "0.000162534" "01943" "FOLR1_000016" "g.71907166C>T" "" "" "" "FOLR1(NM_016724.2):c.719C>T (p.A240V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862692" "0" "50" "11" "71906390" "71906390" "subst" "0" "01943" "FOLR1_000015" "g.71906390T>C" "" "" "" "FOLR1(NM_016724.2):c.244T>C (p.Y82H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038756" "0" "50" "11" "71907061" "71907061" "subst" "4.06144E-6" "01804" "FOLR1_000017" "g.71907061G>A" "" "" "" "FOLR1(NM_016729.3):c.614G>A (p.(Gly205Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001057727" "11" "90" "11" "71906672" "71906672" "subst" "0" "00006" "FOLR1_000018" "g.71906672G>T" "" "{PMID:Ohba 2013:24091540}" "" "" "" "Germline" "" "" "0" "" "" "g.72195628G>T" "" "pathogenic (recessive)" "" "0001057728" "11" "90" "11" "71906672" "71906672" "subst" "0" "00006" "FOLR1_000018" "g.71906672G>T" "" "{PMID:Ohba 2013:24091540}" "" "" "" "Germline" "" "" "0" "" "" "g.72195628G>T" "" "pathogenic (recessive)" "" "0001057736" "21" "90" "11" "71906764" "71906764" "subst" "4.06138E-6" "00006" "FOLR1_000019" "g.71906764T>G" "" "{PMID:Ohba 2013:24091540}" "" "" "" "Germline" "" "" "0" "" "" "g.72195720T>G" "" "pathogenic (recessive)" "" "0001057737" "21" "90" "11" "71906764" "71906764" "subst" "4.06138E-6" "00006" "FOLR1_000019" "g.71906764T>G" "" "{PMID:Ohba 2013:24091540}" "" "" "" "Germline" "" "" "0" "" "" "g.72195720T>G" "" "pathogenic (recessive)" "" ## 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 FOLR1 ## Count = 29 "{{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}}" "0000130285" "00008055" "90" "398" "0" "398" "0" "c.398C>A" "r.(?)" "p.(Pro133His)" "" "0000256330" "00008055" "50" "13" "0" "13" "0" "c.13A>G" "r.(?)" "p.(Met5Val)" "" "0000280856" "00008055" "30" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000280857" "00008055" "50" "343" "0" "343" "0" "c.343C>T" "r.(?)" "p.(Pro115Ser)" "" "0000280858" "00008055" "90" "493" "2" "493" "2" "c.493+2T>C" "r.spl?" "p.?" "" "0000284071" "00008055" "10" "169" "-94" "169" "-94" "c.169-94T>G" "r.(=)" "p.(=)" "" "0000284072" "00008055" "30" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000284073" "00008055" "30" "493" "12" "493" "12" "c.493+12G>A" "r.(=)" "p.(=)" "" "0000284074" "00008055" "50" "493" "2" "493" "2" "c.493+2T>C" "r.spl?" "p.?" "" "0000284075" "00008055" "70" "562" "0" "562" "0" "c.562C>G" "r.(?)" "p.(Leu188Val)" "" "0000287834" "00008055" "10" "292" "0" "292" "0" "c.292C>T" "r.(?)" "p.(Arg98Trp)" "" "0000322411" "00008055" "50" "22" "0" "22" "0" "c.22C>A" "r.(?)" "p.(Gln8Lys)" "" "0000343655" "00008055" "90" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.(Asn222Ser)" "" "0000404715" "00008055" "70" "287" "0" "287" "0" "c.287G>A" "r.(?)" "p.(Cys96Tyr)" "3" "0000545653" "00008055" "30" "321" "0" "321" "0" "c.321C>T" "r.(?)" "p.(Tyr107=)" "" "0000545654" "00008055" "50" "493" "2" "493" "2" "c.493+2T>C" "r.spl?" "p.?" "" "0000648387" "00008055" "50" "493" "2" "493" "2" "c.493+2T>C" "r.spl?" "p.?" "" "0000691186" "00008055" "30" "157" "0" "157" "0" "c.157T>C" "r.(?)" "p.(Leu53=)" "" "0000787283" "00008055" "50" "493" "2" "493" "6" "c.493+2_493+6del" "r.spl" "p.?" "4i" "0000853167" "00008055" "30" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Ala240Val)" "" "0000853167" "00026026" "30" "719" "0" "719" "0" "c.719C>T" "r.(?)" "p.(Ala240Val)" "" "0000862692" "00008055" "50" "244" "0" "244" "0" "c.244T>C" "r.(?)" "p.(Tyr82His)" "" "0000862692" "00026026" "50" "244" "0" "244" "0" "c.244T>C" "r.(?)" "p.(Tyr82His)" "" "0001038756" "00008055" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Gly205Glu)" "" "0001038756" "00026026" "50" "614" "0" "614" "0" "c.614G>A" "r.(?)" "p.(Gly205Glu)" "" "0001057727" "00026026" "90" "374" "0" "374" "0" "c.374G>T" "r.(?)" "p.(Arg125Leu)" "" "0001057728" "00026026" "90" "374" "0" "374" "0" "c.374G>T" "r.(?)" "p.(Arg125Leu)" "" "0001057736" "00026026" "90" "466" "0" "466" "0" "c.466T>G" "r.(?)" "p.(Trp156Gly)" "" "0001057737" "00026026" "90" "466" "0" "466" "0" "c.466T>G" "r.(?)" "p.(Trp156Gly)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 8 "{{screeningid}}" "{{variantid}}" "0000081199" "0000130285" "0000181079" "0000404715" "0000291698" "0000648387" "0000375932" "0000787283" "0000469694" "0001057727" "0000469694" "0001057736" "0000469695" "0001057728" "0000469695" "0001057737"