### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC52A2) # 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}}" "SLC52A2" "solute carrier family 52, riboflavin transporter, member 2" "8" "q24.3" "unknown" "NG_032872.2" "UD_136091786481" "" "https://www.LOVD.nl/SLC52A2" "" "1" "30224" "79581" "607882" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2021-10-22 18:41:31" "00000" "2025-05-05 21:14:00" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00019359" "SLC52A2" "transcript variant 1" "004" "NM_024531.4" "" "NP_078807.1" "" "" "" "-278" "1609" "1338" "145582276" "145584946" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{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" "03711" "BVVLS2" "Brown-Vialetto-Van Laere syndrome, type 2 (BVVLS2)" "AR" "614707" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05083" "BVVLS" "Brown-Vialetto-Van Laere syndrome (BVVLS)" "" "" "" "" "" "00006" "2015-10-12 14:53:07" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "SLC52A2" "03711" "SLC52A2" "05083" ## Individuals ## Do not remove or alter this header ## ## Count = 27 "{{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}}" "00051498" "" "" "" "1" "" "01400" "ATX551" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00051499" "" "" "" "1" "" "01400" "ATX551" "" "F" "yes" "Turkey" "" "0" "" "" "" "" "00051501" "" "" "" "1" "" "01400" "" "" "M" "yes" "Israel" "" "0" "" "" "" "" "00051502" "" "" "" "1" "" "01400" "" "" "F" "yes" "Israel" "" "0" "" "" "" "" "00294594" "" "" "" "14" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00386512" "" "" "" "1" "" "00006" "{PMID:Megarbane 2000:10797435}, {PMID:Foley 2014:24253200}" "6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Lebanon" "" "0" "" "" "Shiite;Muslim" "family" "00386513" "" "" "" "1" "" "00006" "{PMID:Johnson 2012:22740598}" "6-generation family, 4 affected (F, 3M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Lebanon" "" "0" "" "" "" "family" "00386514" "" "" "" "1" "" "00006" "{PMID:Johnson 2012:22740598}, {PMID:Foley 2014:24253200}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Scotland" "" "0" "" "" "" "FamD;PatE1" "00386517" "" "" "" "1" "" "00006" "{PMID:Haack 2012:22864630}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "Germany" "" "0" "" "" "" "patient" "00386518" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Iceland" "" "0" "" "" "" "PatE2" "00386519" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England" "" "0" "" "" "" "PatE3" "00386520" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Scotland" "" "0" "" "" "" "PatE4" "00386521" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "Scotland" "" "0" "" "" "" "PatE5" "00386522" "" "" "" "2" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "Lebanon" "" "0" "" "" "" "Fam1PatA1" "00386523" "" "" "00386522" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "Lebanon" "" "0" "" "" "" "Fam1PatA2" "00386524" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Ireland" "" "0" "" "" "" "PatI1" "00386525" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "PatL1" "00386526" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England" "" "0" "" "" "" "PatE6" "00386527" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "England" "" "0" "" "" "" "PatE7" "00386528" "" "" "" "2" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Scotland" "" "0" "" "" "" "Fam2PatA3" "00386529" "" "" "00386528" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "England;Scotland" "" "0" "" "" "" "Fam2PatA4" "00386530" "" "" "" "3" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "Fam3PatA5" "00386531" "" "" "00386530" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "Fam3PatA6" "00386532" "" "" "00386530" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "Lebanon" "" "0" "" "" "" "Fam3PatA7" "00386533" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "F" "" "" "" "0" "" "" "native American;Europe" "Fam4PatU1" "00386534" "" "" "" "1" "" "00006" "{PMID:Foley 2014:24253200}" "patient" "M" "" "" "" "0" "" "" "native American;Europe" "Fam4PatU2" "00386535" "" "" "" "1" "" "00006" "{PMID:Ciccolella 2013:23243084}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Italy" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 27 "{{individualid}}" "{{diseaseid}}" "00051498" "03711" "00051499" "03711" "00051501" "03711" "00051502" "03711" "00294594" "00198" "00386512" "05083" "00386513" "05083" "00386514" "05083" "00386517" "05083" "00386518" "00198" "00386519" "00198" "00386520" "00198" "00386521" "00198" "00386522" "00198" "00386523" "00198" "00386524" "00198" "00386525" "00198" "00386526" "00198" "00386527" "00198" "00386528" "00198" "00386529" "00198" "00386530" "00198" "00386531" "00198" "00386532" "00198" "00386533" "00198" "00386534" "00198" "00386535" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 03711, 05083 ## Count = 25 "{{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}}" "0000038673" "03711" "00051502" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038674" "03711" "00051501" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038675" "03711" "00051498" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038676" "03711" "00051499" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000280318" "05083" "00386512" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "Brown-Vialetto-Van Laere syndrome" "" "0000280319" "05083" "00386513" "00006" "Familial, autosomal recessive" "" "see paper; ..., progressive sensorineural deafness, childhood amyotrophic lateral sclerosis" "" "" "" "" "" "" "" "" "BVVLS2" "Brown-Vialetto-Van Laere syndrome" "" "0000280320" "05083" "00386514" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "BVVLS2" "Brown-Vialetto-Van Laere syndrome" "" "0000280321" "00198" "00386518" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280322" "00198" "00386519" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280323" "00198" "00386520" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280324" "00198" "00386521" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280325" "00198" "00386522" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280326" "00198" "00386523" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280327" "00198" "00386524" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280328" "00198" "00386525" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280329" "00198" "00386526" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "cranial neuropathy, sensorimotor neuropathy" "" "0000280330" "00198" "00386527" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "cranial neuropathy, sensorimotor neuropathy" "" "0000280331" "00198" "00386528" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "cranial neuropathy, sensorimotor neuropathy" "" "0000280332" "00198" "00386529" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280333" "00198" "00386530" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280334" "00198" "00386531" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280335" "00198" "00386532" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280336" "00198" "00386533" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280337" "00198" "00386534" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "BVVLS2" "" "" "0000280338" "00198" "00386535" "00006" "Familial, autosomal recessive" "" "see paper; ...; 2y-progressive dysphonia, exercise intolerance, dyspnoea, cyanosis" "" "" "" "" "" "" "" "" "BVVLS2" "progressive dysphonia, exercise intolerance, dyspnoea, cyanosis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 27 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000051443" "00051498" "1" "01400" "01400" "2015-09-30 10:44:30" "" "" "SEQ-NG" "DNA" "" "" "0000051444" "00051499" "1" "01400" "01400" "2015-09-30 11:15:10" "" "" "SEQ-NG" "DNA" "" "" "0000051447" "00051501" "1" "01400" "01400" "2015-09-30 11:39:40" "" "" "SEQ-NG" "DNA" "" "" "0000051448" "00051502" "1" "01400" "01400" "2015-09-30 11:48:14" "" "" "SEQ-NG" "DNA" "" "" "0000295762" "00294594" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000387740" "00386512" "1" "00006" "00006" "2021-10-22 18:14:55" "" "" "SEQ" "DNA" "" "" "0000387741" "00386513" "1" "00006" "00006" "2021-10-24 13:17:51" "" "" "SEQ;SEQ-NG" "DNA" "" "we" "0000387742" "00386514" "1" "00006" "00006" "2021-10-24 13:24:31" "" "" "SEQ" "DNA" "" "" "0000387745" "00386517" "1" "00006" "00006" "2021-10-24 15:07:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000387746" "00386518" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387747" "00386519" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387748" "00386520" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387749" "00386521" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387750" "00386522" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387751" "00386523" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387752" "00386524" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387753" "00386525" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387754" "00386526" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387755" "00386527" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387756" "00386528" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387757" "00386529" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387758" "00386530" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387759" "00386531" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387760" "00386532" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387761" "00386533" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387762" "00386534" "1" "00006" "00006" "2021-10-24 15:45:44" "" "" "SEQ" "DNA" "" "" "0000387763" "00386535" "1" "00006" "00006" "2021-10-24 15:51:33" "00006" "2021-10-24 16:03:15" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000387740" "SLC52A2" "0000387741" "SLC52A2" "0000387742" "SLC52A2" "0000387745" "SLC52A2" "0000387746" "SLC52A2" "0000387747" "SLC52A2" "0000387748" "SLC52A2" "0000387749" "SLC52A2" "0000387750" "SLC52A2" "0000387751" "SLC52A2" "0000387752" "SLC52A2" "0000387753" "SLC52A2" "0000387754" "SLC52A2" "0000387755" "SLC52A2" "0000387756" "SLC52A2" "0000387757" "SLC52A2" "0000387758" "SLC52A2" "0000387759" "SLC52A2" "0000387760" "SLC52A2" "0000387761" "SLC52A2" "0000387763" "SLC52A1" "0000387763" "SLC52A2" "0000387763" "SLC52A3" ## 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 = 110 "{{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}}" "0000080492" "3" "70" "8" "145583553" "145583553" "subst" "1.21873E-5" "01400" "SLC52A2_000002" "g.145583553C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144359893C>T" "" "likely pathogenic" "" "0000080493" "3" "70" "8" "145583553" "145583553" "subst" "1.21873E-5" "01400" "SLC52A2_000002" "g.145583553C>T" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144359893C>T" "" "likely pathogenic" "" "0000080495" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "01400" "SLC52A2_000001" "g.145584068G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144360408G>A" "" "pathogenic" "" "0000080496" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "01400" "SLC52A2_000001" "g.145584068G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.144360408G>A" "" "pathogenic" "" "0000254415" "0" "30" "8" "145583473" "145583473" "subst" "0" "01943" "SLC52A2_000003" "g.145583473A>G" "" "" "" "SLC52A2(NM_024531.4):c.321A>G (p.G107=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359813A>G" "" "likely benign" "" "0000256564" "0" "50" "8" "145582966" "145582966" "subst" "6.13683E-5" "01943" "SLC52A2_000010" "g.145582966A>T" "" "" "" "SLC52A2(NM_024531.4):c.13A>T (p.T5S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359306A>T" "" "VUS" "" "0000308472" "0" "30" "8" "145584337" "145584337" "subst" "0.00603152" "01943" "SLC52A2_000006" "g.145584337G>A" "" "" "" "SLC52A2(NM_001363118.1):c.1089G>A (p.P363=), SLC52A2(NM_024531.5):c.1089G>A (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144360677G>A" "" "likely benign" "" "0000308473" "0" "50" "8" "145584541" "145584541" "subst" "3.26685E-5" "01943" "SLC52A2_000007" "g.145584541C>T" "" "" "" "SLC52A2(NM_024531.4):c.1204C>T (p.R402W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144360881C>T" "" "VUS" "" "0000308474" "0" "30" "8" "145583511" "145583511" "subst" "0.000560989" "01943" "SLC52A2_000004" "g.145583511T>C" "" "" "" "SLC52A2(NM_024531.4):c.359T>C (p.V120A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359851T>C" "" "likely benign" "" "0000341501" "0" "50" "8" "145583319" "145583319" "subst" "1.62596E-5" "02327" "SLC52A2_000008" "g.145583319C>T" "" "" "" "SLC52A2(NM_001363118.1):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144359659C>T" "" "VUS" "" "0000349726" "0" "90" "8" "145583745" "145583745" "subst" "0" "02327" "SLC52A2_000009" "g.145583745G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.144360085G>A" "" "pathogenic" "" "0000534201" "0" "90" "8" "145583301" "145583301" "dup" "0" "01943" "SLC52A2_000014" "g.145583301dup" "" "" "" "SLC52A2(NM_024531.4):c.149dupA (p.Y50*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359641dup" "" "pathogenic" "" "0000534202" "0" "30" "8" "145583380" "145583380" "subst" "0.000727465" "01943" "SLC52A2_000015" "g.145583380C>T" "" "" "" "SLC52A2(NM_024531.4):c.228C>T (p.D76=), SLC52A2(NM_024531.5):c.228C>T (p.D76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359720C>T" "" "likely benign" "" "0000534203" "0" "30" "8" "145583505" "145583505" "subst" "0.00274417" "02330" "SLC52A2_000016" "g.145583505C>A" "" "" "" "SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359845C>A" "" "likely benign" "" "0000534204" "0" "30" "8" "145583505" "145583505" "subst" "0.00274417" "01943" "SLC52A2_000016" "g.145583505C>A" "" "" "" "SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359845C>A" "" "likely benign" "" "0000534205" "0" "30" "8" "145583505" "145583505" "subst" "0.00274417" "02325" "SLC52A2_000016" "g.145583505C>A" "" "" "" "SLC52A2(NM_024531.4):c.353C>A (p.A118D), SLC52A2(NM_024531.5):c.353C>A (p.A118D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359845C>A" "" "likely benign" "" "0000534206" "0" "30" "8" "145583708" "145583708" "subst" "3.26078E-5" "01943" "SLC52A2_000017" "g.145583708G>A" "" "" "" "SLC52A2(NM_024531.4):c.556G>A (p.D186N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360048G>A" "" "likely benign" "" "0000534207" "0" "30" "8" "145583999" "145583999" "subst" "0" "01943" "SLC52A2_000018" "g.145583999T>A" "" "" "" "SLC52A2(NM_024531.4):c.847T>A (p.L283M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360339T>A" "" "likely benign" "" "0000534208" "0" "30" "8" "145584159" "145584159" "subst" "0.000872502" "01943" "SLC52A2_000019" "g.145584159C>T" "" "" "" "SLC52A2(NM_001363118.2):c.1001+6C>T, SLC52A2(NM_024531.4):c.1001+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360499C>T" "" "likely benign" "" "0000534210" "0" "30" "8" "145584287" "145584287" "subst" "0.000602415" "01943" "SLC52A2_000021" "g.145584287G>A" "" "" "" "SLC52A2(NM_024531.4):c.1039G>A (p.V347M, p.(Val347Met)), SLC52A2(NM_024531.5):c.1039G>A (p.V347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360627G>A" "" "likely benign" "" "0000534211" "0" "30" "8" "145584358" "145584358" "subst" "8.45537E-6" "01943" "SLC52A2_000022" "g.145584358G>A" "" "" "" "SLC52A2(NM_024531.4):c.1110G>A (p.A370=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360698G>A" "" "likely benign" "" "0000534212" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "01943" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360701G>A" "" "likely benign" "" "0000534213" "0" "50" "8" "145584497" "145584499" "del" "0" "01943" "SLC52A2_000024" "g.145584497_145584499del" "" "" "" "SLC52A2(NM_024531.4):c.1160_1162delCCT (p.S387del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360837_144360839del" "" "VUS" "" "0000534214" "0" "30" "8" "145584510" "145584510" "subst" "1.63003E-5" "01943" "SLC52A2_000025" "g.145584510G>A" "" "" "" "SLC52A2(NM_024531.4):c.1173G>A (p.V391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360850G>A" "" "likely benign" "" "0000534215" "0" "30" "8" "145584594" "145584594" "subst" "4.87797E-5" "01943" "SLC52A2_000026" "g.145584594C>T" "" "" "" "SLC52A2(NM_024531.4):c.1257C>T (p.G419=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360934C>T" "" "likely benign" "" "0000534216" "0" "50" "8" "145584614" "145584614" "subst" "4.87547E-5" "01943" "SLC52A2_000027" "g.145584614C>T" "" "" "" "SLC52A2(NM_024531.4):c.1277C>T (p.P426L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360954C>T" "" "VUS" "" "0000611519" "0" "30" "8" "145579954" "145579955" "ins" "0" "01804" "SLC52A2_000029" "g.145579954_145579955insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA" "" "" "" "FBXL6(NM_012162.2):c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144356294_144356295insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA" "" "likely benign" "" "0000611520" "0" "30" "8" "145579961" "145579962" "ins" "0" "01804" "SLC52A2_000030" "g.145579961_145579962insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC" "" "" "" "FBXL6(NM_012162.2):c.1225+5_1225+6insTTGTTCTGGGTTGTGGCCAGGCACGTGAGGTGTGGGGGCCCTTGTGCCGTGCCAGGGTCAG (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144356301_144356302insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC" "" "likely benign" "" "0000611521" "0" "30" "8" "145583290" "145583290" "subst" "0" "01943" "SLC52A2_000032" "g.145583290C>T" "" "" "" "SLC52A2(NM_024531.4):c.138C>T (p.S46=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359630C>T" "" "likely benign" "" "0000611523" "0" "30" "8" "145583380" "145583380" "subst" "0.000727465" "02326" "SLC52A2_000015" "g.145583380C>T" "" "" "" "SLC52A2(NM_024531.4):c.228C>T (p.D76=), SLC52A2(NM_024531.5):c.228C>T (p.D76=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144359720C>T" "" "likely benign" "" "0000611524" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "02330" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360701G>A" "" "likely benign" "" "0000622022" "0" "10" "8" "145583707" "145583707" "subst" "0.00822138" "02330" "SLC52A2_000033" "g.145583707C>T" "" "" "" "SLC52A2(NM_024531.5):c.555C>T (p.L185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360047C>T" "" "benign" "" "0000622023" "0" "50" "8" "145584354" "145584354" "subst" "0.000173673" "02330" "SLC52A2_000034" "g.145584354C>T" "" "" "" "SLC52A2(NM_001363118.1):c.1106C>T (p.S369L), SLC52A2(NM_024531.5):c.1106C>T (p.S369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360694C>T" "" "VUS" "" "0000622024" "0" "30" "8" "145584370" "145584370" "subst" "0.00064372" "02330" "SLC52A2_000035" "g.145584370C>T" "" "" "" "SLC52A2(NM_024531.5):c.1122C>T (p.L374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360710C>T" "" "likely benign" "" "0000652451" "1" "10" "8" "145584694" "145584694" "subst" "0.024079" "03575" "SLC52A2_000036" "g.145584694C>T" "14/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "14 heterozygous, no homozygous; {DB:CLININrs34383175}" "Germline" "" "rs34383175" "0" "" "" "g.144361034C>T" "" "benign" "" "0000656032" "0" "10" "8" "145584337" "145584337" "subst" "0.00603152" "02330" "SLC52A2_000006" "g.145584337G>A" "" "" "" "SLC52A2(NM_001363118.1):c.1089G>A (p.P363=), SLC52A2(NM_024531.5):c.1089G>A (p.P363=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.144360677G>A" "" "benign" "" "0000690205" "0" "50" "8" "145577725" "145577725" "subst" "0" "01943" "SLC52A2_000037" "g.145577725G>A" "" "" "" "TMEM249(NM_001280561.1):c.331C>T (p.R111C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690206" "0" "50" "8" "145583319" "145583319" "subst" "1.62596E-5" "01943" "SLC52A2_000008" "g.145583319C>T" "" "" "" "SLC52A2(NM_001363118.1):c.167C>T (p.A56V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721853" "0" "50" "8" "145583396" "145583396" "subst" "6.90973E-5" "02330" "SLC52A2_000038" "g.145583396C>T" "" "" "" "SLC52A2(NM_001363118.1):c.244C>T (p.R82W), SLC52A2(NM_024531.5):c.244C>T (p.R82W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721854" "0" "70" "8" "145583960" "145583960" "subst" "1.64398E-5" "02329" "SLC52A2_000005" "g.145583960C>T" "" "" "" "SLC52A2(NM_024531.5):c.808C>T (p.Q270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000721855" "0" "50" "8" "145584041" "145584041" "subst" "5.3735E-5" "01943" "SLC52A2_000039" "g.145584041G>T" "" "" "" "SLC52A2(NM_001363118.1):c.889G>T (p.V297L), SLC52A2(NM_001363118.2):c.889G>T (p.(Val297Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000721856" "0" "30" "8" "145584287" "145584287" "subst" "0.000602415" "02326" "SLC52A2_000021" "g.145584287G>A" "" "" "" "SLC52A2(NM_024531.4):c.1039G>A (p.V347M, p.(Val347Met)), SLC52A2(NM_024531.5):c.1039G>A (p.V347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000721857" "0" "50" "8" "145584354" "145584354" "subst" "0.000173673" "01943" "SLC52A2_000034" "g.145584354C>T" "" "" "" "SLC52A2(NM_001363118.1):c.1106C>T (p.S369L), SLC52A2(NM_024531.5):c.1106C>T (p.S369L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803532" "0" "50" "8" "145583366" "145583366" "subst" "0" "01943" "SLC52A2_000040" "g.145583366G>A" "" "" "" "SLC52A2(NM_001363118.1):c.214G>A (p.A72T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803533" "0" "50" "8" "145583396" "145583396" "subst" "6.90973E-5" "01943" "SLC52A2_000038" "g.145583396C>T" "" "" "" "SLC52A2(NM_001363118.1):c.244C>T (p.R82W), SLC52A2(NM_024531.5):c.244C>T (p.R82W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803534" "0" "50" "8" "145583493" "145583493" "subst" "0" "02327" "SLC52A2_000041" "g.145583493T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803535" "0" "30" "8" "145583521" "145583521" "subst" "0" "01943" "SLC52A2_000042" "g.145583521G>A" "" "" "" "SLC52A2(NM_024531.4):c.369G>A (p.L123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803536" "0" "30" "8" "145583719" "145583719" "subst" "0" "01943" "SLC52A2_000043" "g.145583719G>A" "" "" "" "SLC52A2(NM_001363118.1):c.567G>A (p.E189=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803537" "0" "30" "8" "145583813" "145583813" "subst" "0" "01943" "SLC52A2_000044" "g.145583813C>T" "" "" "" "SLC52A2(NM_001363118.1):c.661C>T (p.P221S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803538" "0" "30" "8" "145584525" "145584525" "subst" "0" "01943" "SLC52A2_000045" "g.145584525G>A" "" "" "" "SLC52A2(NM_001363118.1):c.1188G>A (p.L396=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803539" "0" "30" "8" "145584657" "145584657" "subst" "0.000418771" "01943" "SLC52A2_000046" "g.145584657A>G" "" "" "" "SLC52A2(NM_001363118.1):c.1320A>G (p.A440=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000815874" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815876" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Johnson 2012:22740598}" "" "" "not in 1400 control chromosomes" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815878" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Johnson 2012:22740598}, {PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815882" "11" "90" "8" "145583520" "145583520" "subst" "4.06425E-6" "00006" "SLC52A2_000047" "g.145583520T>C" "" "{PMID:Haack 2012:22864630}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815883" "21" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Haack 2012:22864630}" "" "" "" "Germline" "" "rs148234606" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815884" "1" "90" "8" "145583045" "145583045" "subst" "0" "00006" "SLC52A2_000050" "g.145583045G>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144359385G>C" "" "pathogenic (recessive)" "" "0000815885" "1" "90" "8" "145583852" "145583852" "subst" "0" "00006" "SLC52A2_000051" "g.145583852C>T" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360192C>T" "" "pathogenic (recessive)" "" "0000815886" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815887" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815888" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815889" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815890" "1" "90" "8" "145584066" "145584066" "subst" "8.28617E-6" "00006" "SLC52A2_000053" "g.145584066A>G" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360406A>G" "" "pathogenic (recessive)" "" "0000815891" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815892" "1" "90" "8" "145584087" "145584087" "subst" "2.49306E-5" "00006" "SLC52A2_000054" "g.145584087T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360427T>C" "" "pathogenic (recessive)" "" "0000815893" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815894" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815895" "1" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815896" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815897" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815898" "3" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815899" "1" "90" "8" "145584003" "145584003" "subst" "0" "00006" "SLC52A2_000052" "g.145584003C>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360343C>A" "" "pathogenic (recessive)" "" "0000815900" "1" "90" "8" "145584003" "145584003" "subst" "0" "00006" "SLC52A2_000052" "g.145584003C>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360343C>A" "" "pathogenic (recessive)" "" "0000815901" "2" "90" "8" "145584087" "145584087" "subst" "2.49306E-5" "00006" "SLC52A2_000054" "g.145584087T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" 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"0000815906" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815907" "2" "90" "8" "145584595" "145584595" "subst" "1.2194E-5" "00006" "SLC52A2_000055" "g.145584595G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360935G>A" "" "pathogenic (recessive)" "" "0000815908" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815909" "2" "90" "8" "145584264" "145584264" "subst" "7.16061E-5" "00006" "SLC52A2_000020" "g.145584264T>C" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360604T>C" "" "pathogenic (recessive)" "" "0000815910" "2" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815911" "2" "90" "8" "145584068" "145584068" "subst" "4.14559E-5" "00006" "SLC52A2_000001" "g.145584068G>A" "" "{PMID:Foley 2014:24253200}" "" "" "" "Germline" "" "" "0" "" "" "g.144360408G>A" "" "pathogenic (recessive)" "" "0000815912" "11" "90" "8" "145583307" "145583307" "subst" "1.22002E-5" "00006" "SLC52A2_000048" "g.145583307C>T" "" "{PMID:Ciccolella 2013:23243084}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000815913" "21" "90" "8" "145584592" "145584592" "subst" "0" "00006" "SLC52A2_000049" "g.145584592G>A" "" "{PMID:Ciccolella 2013:23243084}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000851840" "0" "30" "8" "145583275" "145583275" "subst" "3.27874E-5" "01943" "SLC52A2_000057" "g.145583275C>T" "" "" "" "SLC52A2(NM_001363118.1):c.131-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851841" "0" "30" "8" "145584314" "145584314" "subst" "0.000183862" "01943" "SLC52A2_000059" "g.145584314C>T" "" "" "" "SLC52A2(NM_001363118.1):c.1066C>T (p.L356=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851842" "0" "30" "8" "145584489" "145584489" "subst" "4.4887E-5" "01943" "SLC52A2_000060" "g.145584489C>A" "" "" "" "SLC52A2(NM_001363118.1):c.1152C>A (p.G384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861125" "0" "10" "8" "145582839" "145582839" "subst" "0" "02326" "SLC52A2_000056" "g.145582839T>C" "" "" "" "SLC52A2(NM_024531.5):c.-110-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000861126" "0" "50" "8" "145583976" "145583976" "subst" "3.29823E-5" "01943" "SLC52A2_000058" "g.145583976G>T" "" "" "" "SLC52A2(NM_001253815.1):c.824G>T (p.R275L), SLC52A2(NM_001363118.2):c.824G>T (p.(Arg275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861127" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "01804" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888224" "0" "50" "8" "145583576" "145583576" "subst" "2.03155E-5" "02330" "SLC52A2_000061" "g.145583576C>T" "" "" "" "SLC52A2(NM_001363118.2):c.424C>T (p.R142C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888225" "0" "30" "8" "145584159" "145584159" "subst" "0.000872502" "02330" "SLC52A2_000019" "g.145584159C>T" "" "" "" "SLC52A2(NM_001363118.2):c.1001+6C>T, SLC52A2(NM_024531.4):c.1001+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912902" "0" "50" "8" "145583630" "145583630" "subst" "7.73043E-5" "02330" "SLC52A2_000062" "g.145583630G>A" "" "" "" "SLC52A2(NM_001363118.2):c.478G>A (p.V160M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912903" "0" "10" "8" "145583795" "145583795" "subst" "0.000333624" "02330" "SLC52A2_000063" "g.145583795C>T" "" "" "" "SLC52A2(NM_001363118.2):c.643C>T (p.L215=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929422" "0" "70" "8" "145583636" "145583636" "subst" "0" "02327" "SLC52A2_000064" "g.145583636G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000978124" "0" "30" "8" "145582270" "145582270" "subst" "0" "01804" "SLC52A2_000065" "g.145582270G>A" "" "" "" "SLC52A2(NM_001253816.2):c.-111G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978125" "0" "50" "8" "145582275" "145582275" "subst" "0" "01804" "SLC52A2_000066" "g.145582275G>T" "" "" "" "SLC52A2(NM_001253816.2):c.-111+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978126" "0" "30" "8" "145583272" "145583272" "subst" "5.336E-5" "02326" "SLC52A2_000067" "g.145583272C>G" "" "" "" "SLC52A2(NM_001363118.2):c.131-11C>G, SLC52A2(NM_024531.5):c.131-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978127" "0" "50" "8" "145583703" "145583703" "subst" "4.07887E-6" "01804" "SLC52A2_000068" "g.145583703C>T" "" "" "" "SLC52A2(NM_001363118.2):c.551C>T (p.(Pro184Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978128" "0" "50" "8" "145583976" "145583976" "subst" "3.29823E-5" "01804" "SLC52A2_000058" "g.145583976G>T" "" "" "" "SLC52A2(NM_001253815.1):c.824G>T (p.R275L), SLC52A2(NM_001363118.2):c.824G>T (p.(Arg275Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978129" "0" "50" "8" "145584041" "145584041" "subst" "5.3735E-5" "01804" "SLC52A2_000039" "g.145584041G>T" "" "" "" "SLC52A2(NM_001363118.1):c.889G>T (p.V297L), SLC52A2(NM_001363118.2):c.889G>T (p.(Val297Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978130" "0" "30" "8" "145584361" "145584361" "subst" "0.000131163" "02326" "SLC52A2_000023" "g.145584361G>A" "" "" "" "SLC52A2(NM_001253815.1):c.1113G>A (p.(Gly371=)), SLC52A2(NM_001363118.2):c.1113G>A (p.G371=), SLC52A2(NM_024531.4):c.1113G>A (p.G371=), SLC52A2(NM...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997049" "0" "30" "8" "145577521" "145577521" "subst" "0.00152332" "01804" "SLC52A2_000069" "g.145577521G>A" "" "" "" "TMEM249(NM_001252402.2):c.445C>T (p.(His149Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997050" "0" "50" "8" "145577614" "145577614" "subst" "0" "01804" "SLC52A2_000070" "g.145577614C>T" "" "" "" "TMEM249(NM_001252402.2):c.442G>A (p.(Ala148Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997051" "0" "30" "8" "145584287" "145584287" "subst" "0.000602415" "01804" "SLC52A2_000021" "g.145584287G>A" "" "" "" "SLC52A2(NM_024531.4):c.1039G>A (p.V347M, p.(Val347Met)), SLC52A2(NM_024531.5):c.1039G>A (p.V347M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014424" "0" "30" "8" "145583272" "145583272" "subst" "5.336E-5" "02330" "SLC52A2_000067" "g.145583272C>G" "" "" "" "SLC52A2(NM_001363118.2):c.131-11C>G, SLC52A2(NM_024531.5):c.131-11C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036845" "0" "50" "8" "145583703" "145583703" "del" "0" "01804" "SLC52A2_000071" "g.145583703del" "" "" "" "SLC52A2(NM_001363118.2):c.551del (p.(Pro184Argfs*17))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036846" "0" "90" "8" "145584087" "145584087" "subst" "2.49306E-5" "01804" "SLC52A2_000054" "g.145584087T>C" "" "" "" "SLC52A2(NM_001363118.2):c.935T>C (p.(Leu312Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes SLC52A2 ## Count = 110 "{{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}}" "0000080492" "00019359" "70" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "3" "0000080493" "00019359" "70" "401" "0" "401" "0" "c.401C>T" "r.(?)" "p.(Pro134Leu)" "3" "0000080495" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "3" "0000080496" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "3" "0000254415" "00019359" "30" "321" "0" "321" "0" "c.321A>G" "r.(?)" "p.(Gly107=)" "" "0000256564" "00019359" "50" "13" "0" "13" "0" "c.13A>T" "r.(?)" "p.(Thr5Ser)" "" "0000308472" "00019359" "30" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Pro363=)" "" "0000308473" "00019359" "50" "1204" "0" "1204" "0" "c.1204C>T" "r.(?)" "p.(Arg402Trp)" "" "0000308474" "00019359" "30" "359" "0" "359" "0" "c.359T>C" "r.(?)" "p.(Val120Ala)" "" "0000341501" "00019359" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000349726" "00019359" "90" "593" "0" "593" "0" "c.593G>A" "r.(?)" "p.(Trp198Ter)" "" "0000534201" "00019359" "90" "149" "0" "149" "0" "c.149dup" "r.(?)" "p.(Tyr50Ter)" "" "0000534202" "00019359" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Asp76=)" "" "0000534203" "00019359" "30" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000534204" "00019359" "30" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000534205" "00019359" "30" "353" "0" "353" "0" "c.353C>A" "r.(?)" "p.(Ala118Asp)" "" "0000534206" "00019359" "30" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Asp186Asn)" "" "0000534207" "00019359" "30" "847" "0" "847" "0" "c.847T>A" "r.(?)" "p.(Leu283Met)" "" "0000534208" "00019359" "30" "1001" "6" "1001" "6" "c.1001+6C>T" "r.(=)" "p.(=)" "" "0000534210" "00019359" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Met)" "" "0000534211" "00019359" "30" "1110" "0" "1110" "0" "c.1110G>A" "r.(?)" "p.(Ala370=)" "" "0000534212" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000534213" "00019359" "50" "1160" "0" "1162" "0" "c.1160_1162del" "r.(?)" "p.(Ser387del)" "" "0000534214" "00019359" "30" "1173" "0" "1173" "0" "c.1173G>A" "r.(?)" "p.(Val391=)" "" "0000534215" "00019359" "30" "1257" "0" "1257" "0" "c.1257C>T" "r.(?)" "p.(Gly419=)" "" "0000534216" "00019359" "50" "1277" "0" "1277" "0" "c.1277C>T" "r.(?)" "p.(Pro426Leu)" "" "0000611519" "00019359" "30" "-2600" "0" "-2599" "0" "c.-2600_-2599insGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAA" "r.(?)" "p.(=)" "" "0000611520" "00019359" "30" "-2593" "0" "-2592" "0" "c.-2593_-2592insTGGCACGGCACAAGGGCCCCCACACCTCACGTGCCTGGCCACAACCCAGAACAACTGACCC" "r.(?)" "p.(=)" "" "0000611521" "00019359" "30" "138" "0" "138" "0" "c.138C>T" "r.(?)" "p.(Ser46=)" "" "0000611523" "00019359" "30" "228" "0" "228" "0" "c.228C>T" "r.(?)" "p.(Asp76=)" "" "0000611524" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000622022" "00019359" "10" "555" "0" "555" "0" "c.555C>T" "r.(?)" "p.(Leu185=)" "" "0000622023" "00019359" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "" "0000622024" "00019359" "30" "1122" "0" "1122" "0" "c.1122C>T" "r.(?)" "p.(Leu374=)" "" "0000652451" "00019359" "10" "1357" "0" "1357" "0" "c.*19C>T" "r.(=)" "p.(=)" "" "0000656032" "00019359" "10" "1089" "0" "1089" "0" "c.1089G>A" "r.(?)" "p.(Pro363=)" "" "0000690205" "00019359" "50" "-4829" "0" "-4829" "0" "c.-4829G>A" "r.(?)" "p.(=)" "" "0000690206" "00019359" "50" "167" "0" "167" "0" "c.167C>T" "r.(?)" "p.(Ala56Val)" "" "0000721853" "00019359" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0000721854" "00019359" "70" "808" "0" "808" "0" "c.808C>T" "r.(?)" "p.(Gln270Ter)" "" "0000721855" "00019359" "50" "889" "0" "889" "0" "c.889G>T" "r.(?)" "p.(Val297Leu)" "" "0000721856" "00019359" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Met)" "" "0000721857" "00019359" "50" "1106" "0" "1106" "0" "c.1106C>T" "r.(?)" "p.(Ser369Leu)" "" "0000803532" "00019359" "50" "214" "0" "214" "0" "c.214G>A" "r.(?)" "p.(Ala72Thr)" "" "0000803533" "00019359" "50" "244" "0" "244" "0" "c.244C>T" "r.(?)" "p.(Arg82Trp)" "" "0000803534" "00019359" "50" "341" "0" "341" "0" "c.341T>C" "r.(?)" "p.(Phe114Ser)" "" "0000803535" "00019359" "30" "369" "0" "369" "0" "c.369G>A" "r.(?)" "p.(Leu123=)" "" "0000803536" "00019359" "30" "567" "0" "567" "0" "c.567G>A" "r.(?)" "p.(Glu189=)" "" "0000803537" "00019359" "30" "661" "0" "661" "0" "c.661C>T" "r.(?)" "p.(Pro221Ser)" "" "0000803538" "00019359" "30" "1188" "0" "1188" "0" "c.1188G>A" "r.(?)" "p.(Leu396=)" "" "0000803539" "00019359" "30" "1320" "0" "1320" "0" "c.1320A>G" "r.(?)" "p.(Ala440=)" "" "0000815874" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815876" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815878" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815882" "00019359" "90" "368" "0" "368" "0" "c.368T>C" "r.(?)" "p.(Leu123Pro)" "" "0000815883" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815884" "00019359" "90" "92" "0" "92" "0" "c.92G>C" "r.(?)" "p.(Trp31Ser)" "" "0000815885" "00019359" "90" "700" "0" "700" "0" "c.700C>T" "r.(?)" "p.(Gln234Ter)" "" "0000815886" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815887" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815888" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815889" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815890" "00019359" "90" "914" "0" "914" "0" "c.914A>G" "r.(?)" "p.(Tyr305Cys)" "" "0000815891" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815892" "00019359" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000815893" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815894" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815895" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815896" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815897" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815898" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815899" "00019359" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ala284Asp)" "" "0000815900" "00019359" "90" "851" "0" "851" "0" "c.851C>A" "r.(?)" "p.(Ala284Asp)" "" "0000815901" "00019359" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" "0000815902" "00019359" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Ala420Thr)" "" "0000815903" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815904" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815905" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815906" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815907" "00019359" "90" "1258" "0" "1258" "0" "c.1258G>A" "r.(?)" "p.(Ala420Thr)" "" "0000815908" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815909" "00019359" "90" "1016" "0" "1016" "0" "c.1016T>C" "r.(?)" "p.(Leu339Pro)" "" "0000815910" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815911" "00019359" "90" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Gly306Arg)" "" "0000815912" "00019359" "90" "155" "0" "155" "0" "c.155C>T" "r.(?)" "p.(Ser52Phe)" "" "0000815913" "00019359" "90" "1255" "0" "1255" "0" "c.1255G>A" "r.(?)" "p.(Gly419Ser)" "" "0000851840" "00019359" "30" "131" "-8" "131" "-8" "c.131-8C>T" "r.(=)" "p.(=)" "" "0000851841" "00019359" "30" "1066" "0" "1066" "0" "c.1066C>T" "r.(?)" "p.(Leu356=)" "" "0000851842" "00019359" "30" "1152" "0" "1152" "0" "c.1152C>A" "r.(?)" "p.(Gly384=)" "" "0000861125" "00019359" "10" "-110" "-5" "-110" "-5" "c.-110-5T>C" "r.spl?" "p.?" "" "0000861126" "00019359" "50" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Arg275Leu)" "" "0000861127" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000888224" "00019359" "50" "424" "0" "424" "0" "c.424C>T" "r.(?)" "p.(Arg142Cys)" "" "0000888225" "00019359" "30" "1001" "6" "1001" "6" "c.1001+6C>T" "r.(=)" "p.(=)" "" "0000912902" "00019359" "50" "478" "0" "478" "0" "c.478G>A" "r.(?)" "p.(Val160Met)" "" "0000912903" "00019359" "10" "643" "0" "643" "0" "c.643C>T" "r.(?)" "p.(Leu215=)" "" "0000929422" "00019359" "70" "484" "0" "484" "0" "c.484G>A" "r.(?)" "p.(Ala162Thr)" "" "0000978124" "00019359" "30" "-284" "0" "-284" "0" "c.-284G>A" "r.(?)" "p.(=)" "" "0000978125" "00019359" "50" "-279" "0" "-279" "0" "c.-279G>T" "r.(?)" "p.(=)" "" "0000978126" "00019359" "30" "131" "-11" "131" "-11" "c.131-11C>G" "r.(=)" "p.(=)" "" "0000978127" "00019359" "50" "551" "0" "551" "0" "c.551C>T" "r.(?)" "p.(Pro184Leu)" "" "0000978128" "00019359" "50" "824" "0" "824" "0" "c.824G>T" "r.(?)" "p.(Arg275Leu)" "" "0000978129" "00019359" "50" "889" "0" "889" "0" "c.889G>T" "r.(?)" "p.(Val297Leu)" "" "0000978130" "00019359" "30" "1113" "0" "1113" "0" "c.1113G>A" "r.(?)" "p.(Gly371=)" "" "0000997049" "00019359" "30" "-5033" "0" "-5033" "0" "c.-5033G>A" "r.(?)" "p.(=)" "" "0000997050" "00019359" "50" "-4940" "0" "-4940" "0" "c.-4940C>T" "r.(?)" "p.(=)" "" "0000997051" "00019359" "30" "1039" "0" "1039" "0" "c.1039G>A" "r.(?)" "p.(Val347Met)" "" "0001014424" "00019359" "30" "131" "-11" "131" "-11" "c.131-11C>G" "r.(=)" "p.(=)" "" "0001036845" "00019359" "50" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Pro184Argfs*17)" "" "0001036846" "00019359" "90" "935" "0" "935" "0" "c.935T>C" "r.(?)" "p.(Leu312Pro)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 40 "{{screeningid}}" "{{variantid}}" "0000051443" "0000080492" "0000051444" "0000080493" "0000051447" "0000080495" "0000051448" "0000080496" "0000295762" "0000652451" "0000387740" "0000815874" "0000387741" "0000815876" "0000387742" "0000815878" "0000387745" "0000815882" "0000387745" "0000815883" "0000387746" "0000815884" "0000387746" "0000815901" "0000387747" "0000815885" "0000387747" "0000815902" "0000387748" "0000815886" "0000387748" "0000815903" "0000387749" "0000815887" "0000387749" "0000815904" "0000387750" "0000815888" "0000387751" "0000815889" "0000387752" "0000815890" "0000387752" "0000815905" "0000387753" "0000815891" "0000387754" "0000815892" "0000387754" "0000815906" "0000387755" "0000815893" "0000387755" "0000815907" "0000387756" "0000815894" "0000387756" "0000815908" "0000387757" "0000815895" "0000387757" "0000815909" "0000387758" "0000815896" "0000387759" "0000815897" "0000387760" "0000815898" "0000387761" "0000815899" "0000387761" "0000815910" "0000387762" "0000815900" "0000387762" "0000815911" "0000387763" "0000815912" "0000387763" "0000815913"