### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PREPL) # 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}}" "PREPL" "prolyl endopeptidase-like" "2" "p22.1" "unknown" "NC_000002.11" "UD_132118939811" "" "https://www.LOVD.nl/PREPL" "" "1" "30228" "9581" "609557" "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" "2025-10-31 10:09:07" "00000" "2025-11-01 13:22:20" ## 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}}" "00016799" "PREPL" "transcript variant 1" "005" "NM_006036.4" "" "NP_006027.2" "" "" "" "-959" "5933" "2184" "44587813" "44544746" "" "0000-00-00 00:00:00" "" "" "00025946" "PREPL" "transcript variant 6 (expired, new version available) (expired, new version available) (expired, new version available) (expired, new version available)" "003" "NM_001171613.2" "" "NP_001165084.1" "" "" "MANE select" "-230" "5666" "1917" "44588700" "44544746" "00006" "2024-09-23 14:45:08" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 6 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01739" "CSNU" "cystinuria (CSNU)" "AD;AR" "220100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04312" "CMS" "myasthenic syndrome, congenital (CMS)" "" "" "" "" "" "00006" "2015-08-28 20:21:50" "00006" "2021-12-10 21:51:32" "05534" "mitochondrial" "mitochondrial disorder" "" "" "" "maternal mitochondrial" "" "00006" "2018-12-22 14:29:23" "" "" "06454" "CMS22" "Myasthenic syndrome, congenital, 22" "AR" "616224" "" "" "" "00006" "2021-12-10 23:20:41" "" "" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PREPL" "04312" "PREPL" "06454" ## Individuals ## Do not remove or alter this header ## ## Count = 15 "{{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}}" "00301724" "" "" "" "1" "" "00006" "{PMID:Maddirevula 2019:30237576}" "" "M" "" "" "" "0" "" "" "" "17-1682" "00438637" "" "" "" "1" "" "00006" "{PMID:Hamdan 2017:29100083}" "WGS analysis 197 individuals with unexplained DEE (unaffected parents)" "" "" "Canada" "" "0" "" "pharmaco-resistant seizures" "" "HSC0118" "00454656" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam1PatI" "00454657" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam2PatI" "00454658" "" "" "" "2" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "" "France" "" "0" "" "" "" "Fam8PatI" "00454659" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam3PatI" "00454660" "" "" "" "2" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam7PatI" "00454661" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Belgium" "" "0" "" "" "" "Fam6PatI" "00454662" "" "" "00454660" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "relative" "F" "" "Belgium" "" "0" "" "" "" "Fam7PatII" "00454663" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Belgium" "" "0" "" "" "" "Fam4PatI" "00454664" "" "" "00454658" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "relative" "F" "" "France" "" "0" "" "" "" "Fam8PatII" "00454665" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "France" "" "0" "" "" "" "Fam9PatI" "00454666" "" "" "" "1" "" "00006" "{PMID:Jaeken 2006:16385448}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Belgium" "" "0" "" "" "" "Fam5PatI" "00454716" "" "" "" "1" "" "00095" "{PMID:Legati 2016:26968897}" "" "F" "" "" "" "0" "" "" "" "NGSP66" "00467805" "" "" "" "1" "" "00006" "{PMID:Wheeler 2025:41091956}" "2-generation family, 1 affected" "M" "" "United States" "" "0" "" "" "" "patient" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 15 "{{individualid}}" "{{diseaseid}}" "00301724" "00198" "00438637" "06906" "00454656" "01739" "00454657" "01739" "00454658" "01739" "00454659" "01739" "00454660" "01739" "00454661" "01739" "00454662" "01739" "00454663" "01739" "00454664" "01739" "00454665" "01739" "00454666" "01739" "00454716" "05534" "00467805" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198, 01739, 04312, 05534, 06454, 06906 ## Count = 15 "{{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}}" "0000228822" "00198" "00301724" "00006" "Familial, autosomal recessive" "9y" "intellectual disability (no seizures), short stature, chronic lung disease, and failure to thrive. He looked thin, conscious, alert and oriented. There was no history of weakness or fatigue. There was no ptosis and he had normal extraocular movements. The rest of the cranial nerve examination was normal. Motor examination was normal. no weakness and no fatigable weakness. He had 3 affected brother with same condition. Brain MRI was unremarkable." "" "" "" "" "" "" "" "" "" "" "" "0000328540" "06906" "00438637" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "developmental and epileptic encephalopathy" "" "0000343295" "01739" "00454656" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 36w cesarean section (breech), weight 2,6g, length 44cm; <9y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343296" "01739" "00454657" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 41w induction, weight 3,51g, length 50.5cm; <9y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343297" "01739" "00454658" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 41w, weight 3,97g, length 52cm" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343298" "01739" "00454659" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 40w cesarean section (breech), weight 3,6g, length 50cm; 13.1y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343299" "01739" "00454660" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 40w induction, weight 2,8g, length 49cm; 13.4y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343300" "01739" "00454661" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 3,5" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343301" "01739" "00454662" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 40w, weight 2,89g; 12.5y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343302" "01739" "00454663" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 40w cesarean section, weight 3,25g, length 52cm; 13.7y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343303" "01739" "00454664" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 41w, weight 2,88g, length 49cm; primary amenorrea" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343304" "01739" "00454665" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth 41w, weight 3,45g, length 51cm; 15y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343305" "01739" "00454666" "00006" "Familial, autosomal recessive" "" "see paper; ..., birth weight 1,91g; 5y-puberty" "" "" "" "" "" "" "" "" "cystinuria" "hypotonia-cystinuria syndrome" "" "0000343344" "05534" "00454716" "00095" "Unknown" "" "pshycomotor delay, myopathy" "0y" "" "" "" "" "" "" "" "" "complex IV deficiency" "" "0000352958" "00198" "00467805" "00006" "Complex" "03y" "see paper; ..., 1d-macrocephaly, mild hypoglycemia, cyanosis; 1y-global delays, gross motor delay (9m-sit, 11m-crawl), speech delay, frontal bossing, short stature, hypertelorism; 3y-walk; mild pseudohypertrophy forearms/calves ; earning difficulties both parents" "" "" "" "" "" "" "" "" "DMD;FESD" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000302848" "00301724" "1" "00006" "00006" "2020-05-22 17:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000440119" "00438637" "1" "00006" "00006" "2023-10-21 19:20:17" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000456269" "00454656" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456270" "00454657" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456271" "00454658" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456272" "00454659" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456273" "00454660" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456274" "00454661" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456275" "00454662" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456276" "00454663" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456277" "00454664" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456278" "00454665" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456279" "00454666" "1" "00006" "00006" "2024-09-23 16:17:55" "" "" "PCR;SEQ" "DNA" "" "" "0000456329" "00454716" "1" "00095" "00006" "2024-09-25 11:50:46" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000469471" "00467805" "1" "00006" "00006" "2025-10-30 13:34:25" "" "" "arrayCGH;OM;SEQ;SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 23 "{{screeningid}}" "{{geneid}}" "0000302848" "PREPL" "0000456269" "PREPL" "0000456269" "SLC3A1" "0000456270" "PREPL" "0000456270" "SLC3A1" "0000456271" "PREPL" "0000456271" "SLC3A1" "0000456272" "PREPL" "0000456272" "SLC3A1" "0000456273" "PREPL" "0000456273" "SLC3A1" "0000456274" "PREPL" "0000456274" "SLC3A1" "0000456275" "PREPL" "0000456275" "SLC3A1" "0000456276" "PREPL" "0000456276" "SLC3A1" "0000456277" "PREPL" "0000456277" "SLC3A1" "0000456278" "PREPL" "0000456278" "SLC3A1" "0000456279" "PREPL" "0000456279" "SLC3A1" ## 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 = 132 "{{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}}" "0000248514" "0" "10" "2" "44502788" "44502788" "subst" "0.723779" "02325" "SLC3A1_000002" "g.44502788A>C" "" "" "" "SLC3A1(NM_000341.4):c.114A>C (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44275649A>C" "" "benign" "" "0000252069" "0" "30" "2" "44547333" "44547333" "subst" "1.22887E-5" "02326" "SLC3A1_000010" "g.44547333A>T" "" "" "" "SLC3A1(NM_000341.4):c.1618-5A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320194A>T" "" "likely benign" "" "0000299079" "0" "90" "2" "44573442" "44573442" "subst" "0.000122077" "02329" "PREPL_000001" "g.44573442G>A" "" "" "" "PREPL(NM_006036.4):c.307C>T (p.Q103*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44346303G>A" "" "pathogenic" "" "0000302240" "0" "10" "2" "44528269" "44528269" "del" "0" "02326" "SLC3A1_000007" "g.44528269del" "" "" "" "SLC3A1(NM_000341.4):c.1136+3delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44301130del" "" "benign" "" "0000308453" "0" "30" "2" "44502822" "44502822" "subst" "0" "01943" "SLC3A1_000003" "g.44502822G>A" "" "" "" "SLC3A1(NM_000341.3):c.148G>A (p.G50S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44275683G>A" "" "likely benign" "" "0000308454" "0" "10" "2" "44541045" "44541045" "subst" "0.000817286" "01943" "SLC3A1_000009" "g.44541045C>T" "" "" "" "SLC3A1(NM_000341.3):c.1572C>T (p.N524=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44313906C>T" "" "benign" "" "0000308455" "0" "30" "2" "44547488" "44547488" "subst" "0.000121998" "01943" "SLC3A1_000011" "g.44547488G>A" "" "" "" "SLC3A1(NM_000341.3):c.1768G>A (p.D590N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320349G>A" "" "likely benign" "" "0000308456" "0" "50" "2" "44502978" "44502978" "subst" "0" "01943" "SLC3A1_000004" "g.44502978G>C" "" "" "" "SLC3A1(NM_000341.3):c.304G>C (p.A102P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44275839G>C" "" "VUS" "" "0000308457" "0" "90" "2" "44513249" "44513249" "subst" "0" "01943" "SLC3A1_000005" "g.44513249C>T" "" "" "" "SLC3A1(NM_000341.3):c.844C>T (p.Q282*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44286110C>T" "" "pathogenic" "" "0000308458" "0" "10" "2" "44527104" "44527104" "subst" "0.00155624" "01943" "SLC3A1_000006" "g.44527104C>G" "" "" "" "SLC3A1(NM_000341.3):c.892-6C>G, SLC3A1(NM_000341.4):c.892-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44299965C>G" "" "benign" "" "0000326965" "0" "50" "2" "44531284" "44531284" "subst" "0" "01804" "SLC3A1_000008" "g.44531284T>G" "" "" "" "SLC3A1(NM_000341.3):c.1139T>G (p.(Phe380Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44304145T>G" "" "VUS" "" "0000326966" "0" "50" "2" "44547590" "44547590" "subst" "6.56626E-5" "01804" "SLC3A1_000012" "g.44547590A>G" "" "" "" "SLC3A1(NM_000341.3):c.1870A>G (p.(Thr624Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320451A>G" "" "VUS" "" "0000338112" "0" "10" "2" "44531484" "44531484" "subst" "0.60462" "02327" "SLC3A1_000022" "g.44531484C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44304345C>T" "" "benign" "" "0000338113" "0" "10" "2" "44547909" "44547909" "subst" "0" "02327" "SLC3A1_000030" "g.44547909T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320770T>C" "" "benign" "" "0000340785" "0" "10" "2" "44502788" "44502788" "subst" "0.723779" "02327" "SLC3A1_000002" "g.44502788A>C" "" "" "" "SLC3A1(NM_000341.4):c.114A>C (p.G38=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44275649A>C" "" "benign" "" "0000340976" "0" "30" "2" "44502905" "44502905" "subst" "0.00255106" "02327" "SLC3A1_000014" "g.44502905T>A" "" "" "" "SLC3A1(NM_000341.3):c.231T>A (p.S77=), SLC3A1(NM_000341.4):c.231T>A (p.S77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44275766T>A" "" "likely benign" "" "0000342491" "0" "90" "2" "44513213" "44513213" "subst" "0.000377742" "02327" "SLC3A1_000018" "g.44513213C>T" "" "" "" "SLC3A1(NM_000341.3):c.808C>T (p.R270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44286074C>T" "" "pathogenic" "" "0000342563" "0" "70" "2" "44566372" "44566372" "subst" "1.21904E-5" "02327" "PREPL_000002" "g.44566372G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44339233G>A" "" "likely pathogenic" "" "0000342737" "0" "70" "2" "44528224" "44528224" "subst" "8.12499E-6" "02327" "SLC3A1_000020" "g.44528224G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44301085G>T" "" "likely pathogenic" "" "0000345355" "0" "50" "2" "44527180" "44527180" "subst" "0" "02327" "SLC3A1_000019" "g.44527180A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44300041A>C" "" "VUS" "" "0000346182" "0" "70" "2" "44547519" "44547519" "subst" "7.73276E-5" "02327" "SLC3A1_000028" "g.44547519G>A" "" "" "" "SLC3A1(NM_000341.4):c.1799G>A (p.(Gly600Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320380G>A" "" "likely pathogenic" "" "0000347228" "0" "50" "2" "44547413" "44547415" "del" "0" "02327" "SLC3A1_000027" "g.44547413_44547415del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320274_44320276del" "" "VUS" "" "0000347874" "0" "10" "2" "44547574" "44547574" "subst" "0.595435" "02327" "SLC3A1_000029" "g.44547574G>A" "" "" "" "PREPL(NM_006036.4):c.*921C>T, SLC3A1(NM_000341.4):c.1854G>A (p.M618I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320435G>A" "" "benign" "" "0000348481" "0" "90" "2" "44540996" "44540996" "subst" "4.06511E-6" "02327" "SLC3A1_000024" "g.44540996C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44313857C>G" "" "pathogenic" "" "0000348772" "0" "70" "2" "44507927" "44507927" "subst" "2.43768E-5" "02327" "SLC3A1_000015" "g.44507927C>T" "" "" "" "SLC3A1(NM_000341.4):c.503C>T (p.S168L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44280788C>T" "" "likely pathogenic" "" "0000349087" "0" "70" "2" "44547360" "44547360" "subst" "3.66038E-5" "02327" "SLC3A1_000025" "g.44547360C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44320221C>T" "" "likely pathogenic" "" "0000349339" "0" "50" "2" "44507990" "44507990" "subst" "0.00270887" "02327" "SLC3A1_000016" "g.44507990C>T" "" "" "" "SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44280851C>T" "" "VUS" "" "0000349362" "0" "90" "2" "44508562" "44508562" "subst" "8.93459E-5" "02327" "SLC3A1_000017" "g.44508562C>T" "" "" "" "SLC3A1(NM_000341.3):c.647C>T (p.T216M), SLC3A1(NM_000341.4):c.647C>T (p.T216M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.44281423C>T" "" "pathogenic" "" "0000516027" "0" "30" "2" "44502905" "44502905" "subst" "0.00255106" "01943" "SLC3A1_000014" "g.44502905T>A" "" "" "" "SLC3A1(NM_000341.3):c.231T>A (p.S77=), SLC3A1(NM_000341.4):c.231T>A (p.S77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44275766T>A" "" "likely benign" "" "0000516028" "0" "30" "2" "44502915" "44502915" "subst" "0.000259972" "01943" "SLC3A1_000031" "g.44502915C>T" "" "" "" "SLC3A1(NM_000341.3):c.241C>T (p.R81C), SLC3A1(NM_000341.4):c.241C>T (p.(Arg81Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44275776C>T" "" "likely benign" "" "0000516029" "0" "50" "2" "44503054" "44503054" "subst" "0" "02327" "SLC3A1_000032" "g.44503054A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44275915A>C" "" "VUS" "" "0000516030" "0" "30" "2" "44507990" "44507990" "subst" "0.00270887" "01943" "SLC3A1_000016" "g.44507990C>T" "" "" "" "SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44280851C>T" "" "likely benign" "" "0000516031" "0" "50" "2" "44507990" "44507990" "subst" "0.00270887" "01804" "SLC3A1_000016" "g.44507990C>T" "" "" "" "SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44280851C>T" "" "VUS" "" "0000516032" "0" "50" "2" "44513202" "44513202" "subst" "0.00339144" "01943" "SLC3A1_000001" "g.44513202T>C" "" "" "" "SLC3A1(NM_000341.3):c.797T>C (p.F266S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44286063T>C" "" "VUS" "" "0000516033" "0" "70" "2" "44513238" "44513238" "subst" "4.06174E-6" "02327" "SLC3A1_000033" "g.44513238T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44286099T>G" "" "likely pathogenic" "" "0000516034" "0" "50" "2" "44527228" "44527228" "subst" "2.43809E-5" "01943" "SLC3A1_000034" "g.44527228C>T" "" "" "" "SLC3A1(NM_000341.3):c.1010C>T (p.P337L), SLC3A1(NM_000341.4):c.1010C>T (p.P337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44300089C>T" "" "VUS" "" "0000516035" "0" "90" "2" "44539792" "44539792" "subst" "0.00249695" "01943" "SLC3A1_000023" "g.44539792T>C" "" "" "" "SLC3A1(NM_000341.3):c.1400T>C (p.M467T), SLC3A1(NM_000341.4):c.1400T>C (p.(Met467Thr), p.M467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44312653T>C" "" "pathogenic" "" "0000516036" "0" "90" "2" "44541050" "44541050" "subst" "0" "02327" "SLC3A1_000035" "g.44541050G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44313911G>A" "" "pathogenic" "" "0000516037" "0" "50" "2" "44547455" "44547455" "subst" "8.13206E-6" "02327" "SLC3A1_000036" "g.44547455T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44320316T>G" "" "VUS" "" "0000516038" "0" "30" "2" "44547487" "44547487" "subst" "0.000349716" "01943" "SLC3A1_000037" "g.44547487C>T" "" "" "" "SLC3A1(NM_000341.3):c.1767C>T (p.I589=), SLC3A1(NM_000341.4):c.1767C>T (p.I589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44320348C>T" "" "likely benign" "" "0000516039" "0" "50" "2" "44547516" "44547516" "subst" "4.88257E-5" "02327" "SLC3A1_000038" "g.44547516T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44320377T>C" "" "VUS" "" "0000516040" "0" "30" "2" "44565662" "44565662" "subst" "2.08606E-5" "01804" "SLC3A1_000039" "g.44565662G>A" "" "" "" "PREPL(NM_001042386.2):c.983C>T (p.(Ala328Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44338523G>A" "" "likely benign" "" "0000621075" "0" "50" "2" "44513174" "44513174" "subst" "2.03077E-5" "01943" "SLC3A1_000042" "g.44513174A>G" "" "" "" "SLC3A1(NM_000341.3):c.769A>G (p.S257G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44286035A>G" "" "VUS" "" "0000621078" "0" "30" "2" "44586754" "44586754" "subst" "2.84315E-5" "01943" "SLC3A1_000045" "g.44586754G>A" "" "" "" "PREPL(NM_006036.4):c.101C>T (p.A34V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44359615G>A" "" "likely benign" "" "0000654662" "0" "90" "2" "44539792" "44539792" "subst" "8.94673E-5" "02327" "SLC3A1_000047" "g.44539792T>A" "" "" "" "SLC3A1(NM_000341.4):c.1400T>A (p.M467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.44312653T>A" "" "pathogenic" "" "0000666205" "3" "70" "2" "44553964" "44553964" "subst" "0" "00006" "PREPL_000003" "g.44553964G>A" "" "{PMID:Maddirevula 2019:30237576}" "" "NM_001042385.2:c.1447C>T" "ACMG PVS1, PM2" "Germline" "" "" "0" "" "" "g.44326825G>A" "" "likely pathogenic (recessive)" "ACMG" "0000688787" "0" "50" "2" "44547402" "44547402" "subst" "4.06464E-6" "01943" "SLC3A1_000048" "g.44547402A>G" "" "" "" "SLC3A1(NM_000341.3):c.1682A>G (p.N561S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718825" "0" "50" "2" "44507915" "44507915" "subst" "0" "02327" "SLC3A1_000049" "g.44507915C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718826" "0" "50" "2" "44508562" "44508562" "subst" "8.93459E-5" "01943" "SLC3A1_000017" "g.44508562C>T" "" "" "" "SLC3A1(NM_000341.3):c.647C>T (p.T216M), SLC3A1(NM_000341.4):c.647C>T (p.T216M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000718827" "0" "90" "2" "44513213" "44513213" "subst" "0.000377742" "01943" "SLC3A1_000018" "g.44513213C>T" "" "" "" "SLC3A1(NM_000341.3):c.808C>T (p.R270*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718828" "0" "90" "2" "44539792" "44539792" "subst" "8.94673E-5" "02329" "SLC3A1_000047" "g.44539792T>A" "" "" "" "SLC3A1(NM_000341.4):c.1400T>A (p.M467K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000718829" "0" "90" "2" "44550418" "44550418" "subst" "0" "02327" "SLC3A1_000050" "g.44550418G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800658" "0" "30" "2" "44502682" "44502682" "subst" "0.000223748" "01943" "SLC3A1_000052" "g.44502682A>G" "" "" "" "SLC3A1(NM_000341.3):c.8A>G (p.E3G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800659" "0" "30" "2" "44502905" "44502905" "subst" "0.00255106" "02326" "SLC3A1_000014" "g.44502905T>A" "" "" "" "SLC3A1(NM_000341.3):c.231T>A (p.S77=), SLC3A1(NM_000341.4):c.231T>A (p.S77=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800660" "0" "30" "2" "44507932" "44507932" "subst" "3.24989E-5" "01943" "SLC3A1_000053" "g.44507932C>G" "" "" "" "SLC3A1(NM_000341.3):c.508C>G (p.L170V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800661" "0" "30" "2" "44528165" "44528165" "subst" "0.00397267" "02326" "SLC3A1_000054" "g.44528165G>A" "" "" "" "SLC3A1(NM_000341.4):c.1035G>A (p.E345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800662" "0" "30" "2" "44539790" "44539790" "subst" "0.00206565" "01943" "SLC3A1_000055" "g.44539790C>T" "" "" "" "SLC3A1(NM_000341.3):c.1398C>T (p.N466=), SLC3A1(NM_000341.4):c.1398C>T (p.N466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000800663" "0" "90" "2" "44539792" "44539792" "subst" "0.00249695" "02326" "SLC3A1_000023" "g.44539792T>C" "" "" "" "SLC3A1(NM_000341.3):c.1400T>C (p.M467T), SLC3A1(NM_000341.4):c.1400T>C (p.(Met467Thr), p.M467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000800664" "0" "50" "2" "44547563" "44547563" "subst" "2.04576E-5" "01943" "SLC3A1_000056" "g.44547563C>A" "" "" "" "SLC3A1(NM_000341.3):c.1843C>A (p.P615T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800665" "0" "30" "2" "44586680" "44586680" "subst" "0" "01943" "SLC3A1_000057" "g.44586680A>T" "" "" "" "PREPL(NM_006036.4):c.175T>A (p.S59T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000829418" "0" "50" "2" "27600408" "62081181" "dup" "0" "00000" "FSHR_000025" "g.27600408_62081181dup" "" "{PMID:Ellingsford 2018:29074561}" "" "chr2:27600408–62081181" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000849910" "0" "30" "2" "44502974" "44502974" "subst" "0.000832819" "02326" "SLC3A1_000058" "g.44502974C>T" "" "" "" "SLC3A1(NM_000341.4):c.300C>T (p.L100=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849911" "0" "30" "2" "44527120" "44527120" "subst" "3.65666E-5" "01943" "SLC3A1_000059" "g.44527120G>A" "" "" "" "SLC3A1(NM_000341.3):c.902G>A (p.R301Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849912" "0" "30" "2" "44531413" "44531413" "subst" "8.12592E-6" "01943" "SLC3A1_000060" "g.44531413G>C" "" "" "" "SLC3A1(NM_000341.3):c.1268G>C (p.S423T), SLC3A1(NM_000341.4):c.1268G>C (p.S423T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000849913" "0" "10" "2" "44539790" "44539790" "subst" "0.00206565" "02326" "SLC3A1_000055" "g.44539790C>T" "" "" "" "SLC3A1(NM_000341.3):c.1398C>T (p.N466=), SLC3A1(NM_000341.4):c.1398C>T (p.N466=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000858555" "0" "50" "2" "44566329" "44566329" "subst" "3.65791E-5" "01943" "SLC3A1_000061" "g.44566329T>G" "" "" "" "PREPL(NM_006036.4):c.926A>C (p.E309A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885216" "0" "30" "2" "44507990" "44507990" "subst" "0.00270887" "02326" "SLC3A1_000016" "g.44507990C>T" "" "" "" "SLC3A1(NM_000341.3):c.566C>T (p.T189M, p.(Thr189Met)), SLC3A1(NM_000341.4):c.566C>T (p.T189M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885217" "0" "30" "2" "44513241" "44513241" "subst" "2.03079E-5" "02326" "SLC3A1_000063" "g.44513241T>C" "" "" "" "SLC3A1(NM_000341.4):c.836T>C (p.M279T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885218" "0" "50" "2" "44527140" "44527140" "subst" "0" "02326" "SLC3A1_000064" "g.44527140G>T" "" "" "" "SLC3A1(NM_000341.4):c.922G>T (p.V308F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885219" "0" "70" "2" "44531349" "44531349" "dup" "0" "02326" "SLC3A1_000065" "g.44531349dup" "" "" "" "SLC3A1(NM_000341.4):c.1204dupA (p.I402Nfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000911718" "0" "10" "2" "44527104" "44527104" "subst" "0.00155624" "02326" "SLC3A1_000006" "g.44527104C>G" "" "" "" "SLC3A1(NM_000341.3):c.892-6C>G, SLC3A1(NM_000341.4):c.892-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000911719" "0" "30" "2" "44531414" "44531414" "subst" "4.06293E-5" "02326" "SLC3A1_000066" "g.44531414C>T" "" "" "" "SLC3A1(NM_000341.4):c.1269C>T (p.S423=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911720" "0" "30" "2" "44547487" "44547487" "subst" "0.000349716" "02326" "SLC3A1_000037" "g.44547487C>T" "" "" "" "SLC3A1(NM_000341.3):c.1767C>T (p.I589=), SLC3A1(NM_000341.4):c.1767C>T (p.I589=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000911721" "0" "30" "2" "44547503" "44547503" "subst" "2.03393E-5" "02326" "SLC3A1_000067" "g.44547503G>A" "" "" "" "SLC3A1(NM_000341.4):c.1783G>A (p.V595M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923708" "0" "30" "2" "44528119" "44528119" "subst" "0.000934405" "02326" "SLC3A1_000069" "g.44528119C>T" "" "" "" "SLC3A1(NM_000341.4):c.1012-23C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923709" "0" "30" "2" "44550435" "44550435" "subst" "0.00155053" "02326" "SLC3A1_000070" "g.44550435T>C" "" "" "" "PREPL(NM_006036.4):c.1862A>G (p.K621R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000923710" "0" "30" "2" "44566301" "44566301" "subst" "0.00148431" "02326" "SLC3A1_000071" "g.44566301T>C" "" "" "" "PREPL(NM_006036.4):c.954A>G (p.E318=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928603" "0" "50" "2" "44527228" "44527228" "subst" "2.43809E-5" "02326" "SLC3A1_000034" "g.44527228C>T" "" "" "" "SLC3A1(NM_000341.3):c.1010C>T (p.P337L), SLC3A1(NM_000341.4):c.1010C>T (p.P337L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000928604" "0" "30" "2" "44531279" "44531279" "subst" "0.000349736" "02326" "SLC3A1_000072" "g.44531279T>C" "" "" "" "SLC3A1(NM_000341.4):c.1137-3T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000936414" "0" "50" "2" "44559626" "44559626" "subst" "2.0316E-5" "00006" "PREPL_000004" "g.44559626C>T" "" "{PMID:Hamdan 2017:29100083}" "" "NM_006036:c.G1325A (R442H)" "" "De novo" "" "" "0" "" "" "" "" "VUS" "" "0000947880" "0" "50" "2" "44508595" "44508595" "subst" "0.00019493" "02325" "SLC3A1_000073" "g.44508595G>A" "" "" "" "SLC3A1(NM_000341.4):c.680G>A (p.(Arg227Gln), p.R227Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947881" "0" "90" "2" "44531310" "44531311" "del" "0" "02327" "SLC3A1_000074" "g.44531310_44531311del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000962111" "0" "70" "2" "44507927" "44507927" "subst" "2.43768E-5" "02326" "SLC3A1_000015" "g.44507927C>T" "" "" "" "SLC3A1(NM_000341.4):c.503C>T (p.S168L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962112" "0" "50" "2" "44507992" "44507992" "subst" "4.4673E-5" "02325" "SLC3A1_000075" "g.44507992A>G" "" "" "" "SLC3A1(NM_000341.4):c.568A>G (p.(Met190Val), p.M190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975286" "0" "50" "2" "44502711" "44502711" "subst" "0" "01804" "SLC3A1_000077" "g.44502711A>T" "" "" "" "SLC3A1(NM_000341.4):c.37A>T (p.(Met13Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975287" "0" "50" "2" "44502996" "44502996" "subst" "0.000255867" "01804" "SLC3A1_000078" "g.44502996A>G" "" "" "" "SLC3A1(NM_000341.4):c.322A>G (p.(Ile108Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975288" "0" "70" "2" "44508526" "44508526" "subst" "0" "01804" "SLC3A1_000079" "g.44508526G>T" "" "" "" "SLC3A1(NM_000341.4):c.611G>T (p.(Gly204Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000975289" "0" "90" "2" "44508562" "44508562" "subst" "8.93459E-5" "02326" "SLC3A1_000017" "g.44508562C>T" "" "" "" "SLC3A1(NM_000341.3):c.647C>T (p.T216M), SLC3A1(NM_000341.4):c.647C>T (p.T216M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975290" "0" "50" "2" "44513238" "44513238" "subst" "0" "01804" "SLC3A1_000080" "g.44513238T>C" "" "" "" "SLC3A1(NM_000341.4):c.833T>C (p.(Phe278Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975291" "0" "50" "2" "44531302" "44531302" "subst" "8.12856E-6" "01804" "SLC3A1_000081" "g.44531302A>G" "" "" "" "SLC3A1(NM_000341.4):c.1157A>G (p.(Tyr386Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975292" "0" "30" "2" "44531413" "44531413" "subst" "8.12592E-6" "02326" "SLC3A1_000060" "g.44531413G>C" "" "" "" "SLC3A1(NM_000341.3):c.1268G>C (p.S423T), SLC3A1(NM_000341.4):c.1268G>C (p.S423T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975293" "0" "90" "2" "44539792" "44539792" "subst" "0.00249695" "01804" "SLC3A1_000023" "g.44539792T>C" "" "" "" "SLC3A1(NM_000341.3):c.1400T>C (p.M467T), SLC3A1(NM_000341.4):c.1400T>C (p.(Met467Thr), p.M467T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000975294" "0" "50" "2" "44547519" "44547519" "subst" "7.73276E-5" "01804" "SLC3A1_000028" "g.44547519G>A" "" "" "" "SLC3A1(NM_000341.4):c.1799G>A (p.(Gly600Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975295" "0" "30" "2" "44547566" "44547566" "subst" "0.000139199" "02326" "SLC3A1_000082" "g.44547566G>A" "" "" "" "SLC3A1(NM_000341.4):c.1846G>A (p.A616T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975296" "0" "30" "2" "44547574" "44547574" "subst" "0.595435" "02326" "SLC3A1_000029" "g.44547574G>A" "" "" "" "PREPL(NM_006036.4):c.*921C>T, SLC3A1(NM_000341.4):c.1854G>A (p.M618I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975297" "0" "30" "2" "44566280" "44566280" "subst" "0" "01804" "SLC3A1_000083" "g.44566280G>A" "" "" "" "PREPL(NM_001171613.2):c.702+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000975298" "0" "50" "2" "44587179" "44587179" "subst" "0" "01804" "SLC3A1_000084" "g.44587179T>A" "" "" "" "PREPL(NM_001171606.2):c.-323-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000992873" "0" "30" "2" "44539882" "44539882" "subst" "0" "01804" "SLC3A1_000085" "g.44539882G>C" "" "" "" "SLC3A1(NM_000341.3):c.1490G>C (p.(Ser497Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000992874" "0" "30" "2" "44586631" "44586631" "subst" "2.84889E-5" "01804" "SLC3A1_000086" "g.44586631C>T" "" "" "" "PREPL(NM_006036.4):c.219+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008497" "3" "90" "2" "44544101" "44582220" "del" "0" "00006" "SLC3A1_000090" "g.44544101_44582220del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44316961_44355079del" "" "pathogenic (recessive)" "" "0001008498" "3" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008499" "3" "90" "2" "44518422" "44551801" "del" "0" "00006" "SLC3A1_000088" "g.44518422_44551801del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44291283_44324662del" "" "pathogenic (recessive)" "" "0001008500" "3" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008501" "21" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008502" "2" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008503" "21" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008504" "3" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008505" "3" "90" "2" "44518422" "44551801" "del" "0" "00006" "SLC3A1_000088" "g.44518422_44551801del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44291283_44324662del" "" "pathogenic (recessive)" "" "0001008506" "21" "90" "2" "44540473" "44564344" "del" "0" "00006" "SLC3A1_000089" "g.44540473_44564344del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44313334_44337205del" "" "pathogenic (recessive)" "" "0001008507" "3" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008508" "11" "90" "2" "44544101" "44582220" "del" "0" "00006" "SLC3A1_000090" "g.44544101_44582220del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44316961_44355079del" "" "pathogenic (recessive)" "" "0001008509" "1" "90" "2" "44544101" "44582220" "del" "0" "00006" "SLC3A1_000090" "g.44544101_44582220del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44316961_44355079del" "" "pathogenic (recessive)" "" "0001008510" "11" "90" "2" "44544101" "44582220" "del" "0" "00006" "SLC3A1_000090" "g.44544101_44582220del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44316961_44355079del" "" "pathogenic (recessive)" "" "0001008511" "11" "90" "2" "44504990" "44580502" "del" "0" "00006" "SLC3A1_000087" "g.44504990_44580502del" "" "{PMID:Jaeken 2006:16385448}" "" "" "" "Germline" "" "" "0" "" "" "g.44277851_44353363del" "" "pathogenic (recessive)" "" "0001008591" "3" "90" "2" "44544749" "44566503" "del" "0" "00095" "PREPL_000005" "g.(?_44544749)_(44566503_44569555)del" "" "{PMID:Legati 2016:26968897}" "" "del ex6-14" "" "Germline" "" "" "0" "" "" "g.(?_44317610)_(44339364_44342416)del" "" "pathogenic" "" "0001013738" "0" "50" "2" "44503060" "44503060" "subst" "4.06111E-6" "02327" "SLC3A1_000091" "g.44503060G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013739" "0" "30" "2" "44528165" "44528165" "subst" "0.00397267" "02327" "SLC3A1_000054" "g.44528165G>A" "" "" "" "SLC3A1(NM_000341.4):c.1035G>A (p.E345=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013740" "0" "90" "2" "44573442" "44573442" "subst" "0.000122077" "02327" "PREPL_000001" "g.44573442G>A" "" "" "" "PREPL(NM_006036.4):c.307C>T (p.Q103*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033342" "0" "50" "2" "44502915" "44502915" "subst" "0.000259972" "01804" "SLC3A1_000031" "g.44502915C>T" "" "" "" "SLC3A1(NM_000341.3):c.241C>T (p.R81C), SLC3A1(NM_000341.4):c.241C>T (p.(Arg81Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033343" "0" "50" "2" "44507992" "44507992" "subst" "4.4673E-5" "01804" "SLC3A1_000075" "g.44507992A>G" "" "" "" "SLC3A1(NM_000341.4):c.568A>G (p.(Met190Val), p.M190V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033344" "0" "50" "2" "44508595" "44508595" "subst" "0.00019493" "01804" "SLC3A1_000073" "g.44508595G>A" "" "" "" "SLC3A1(NM_000341.4):c.680G>A (p.(Arg227Gln), p.R227Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033345" "0" "70" "2" "44528214" "44528214" "subst" "6.50015E-5" "01804" "SLC3A1_000093" "g.44528214C>T" "" "" "" "SLC3A1(NM_000341.4):c.1084C>T (p.(Arg362Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033346" "0" "50" "2" "44541068" "44541068" "subst" "0" "01804" "SLC3A1_000094" "g.44541068A>G" "" "" "" "SLC3A1(NM_000341.4):c.1595A>G (p.(Asp532Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033347" "0" "50" "2" "44547747" "44547747" "subst" "3.70468E-5" "01804" "SLC3A1_000095" "g.44547747G>A" "" "" "" "SLC3A1(NM_000341.4):c.2027G>A (p.(Ser676Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033348" "0" "50" "2" "44559627" "44559627" "subst" "0" "01804" "SLC3A1_000096" "g.44559627G>A" "" "" "" "PREPL(NM_001171613.2):c.1057C>T (p.(Arg353Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033349" "0" "50" "2" "44559717" "44559717" "subst" "0.000186881" "01804" "SLC3A1_000097" "g.44559717T>C" "" "" "" "PREPL(NM_001171613.2):c.967A>G (p.(Ile323Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033350" "0" "70" "2" "44565488" "44565488" "subst" "0" "01804" "SLC3A1_000098" "g.44565488A>G" "" "" "" "PREPL(NM_001171613.2):c.888+2T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001033351" "0" "50" "2" "44566480" "44566480" "subst" "7.32851E-5" "01804" "SLC3A1_000099" "g.44566480T>C" "" "" "" "PREPL(NM_001171613.2):c.508A>G (p.(Thr170Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033352" "0" "10" "2" "44570930" "44570930" "subst" "0.0011502" "01804" "SLC3A1_000100" "g.44570930G>T" "" "" "" "PREPL(NM_001171613.2):c.303C>A (p.(Ser101Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033353" "0" "50" "2" "44573489" "44573509" "dup" "0" "01804" "SLC3A1_000101" "g.44573489_44573509dup" "" "" "" "PREPL(NM_001042385.2):c.247_267dup (p.(Glu83_Asn89dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033354" "0" "30" "2" "44586795" "44586795" "subst" "2.84303E-5" "01804" "SLC3A1_000102" "g.44586795T>G" "" "" "" "PREPL(NM_001042385.2):c.60A>C (p.(Gly20=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049805" "0" "70" "2" "44556122" "44556122" "subst" "2.4398E-5" "00006" "PREPL_000006" "g.44556122G>A" "" "{PMID:Wheeler 2025:41091956}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.44328983G>A" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PREPL ## Count = 149 "{{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}}" "0000248514" "00016799" "10" "47891" "0" "47891" "0" "c.*45707T>G" "r.(=)" "p.(=)" "" "0000252069" "00016799" "30" "3346" "0" "3346" "0" "c.*1162T>A" "r.(=)" "p.(=)" "" "0000299079" "00016799" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103Ter)" "" "0000302240" "00016799" "10" "22411" "0" "22411" "0" "c.*20227del" "r.(?)" "p.(=)" "" "0000308453" "00016799" "30" "47857" "0" "47857" "0" "c.*45673C>T" "r.(=)" "p.(=)" "" "0000308454" "00016799" "10" "9634" "0" "9634" "0" "c.*7450G>A" "r.(=)" "p.(=)" "" "0000308455" "00016799" "30" "3191" "0" "3191" "0" "c.*1007C>T" "r.(=)" "p.(=)" "" "0000308456" "00016799" "50" "47701" "0" "47701" "0" "c.*45517C>G" "r.(=)" "p.(=)" "" "0000308457" "00016799" "90" "37430" "0" "37430" "0" "c.*35246G>A" "r.(=)" "p.(=)" "" "0000308458" "00016799" "10" "23575" "0" "23575" "0" "c.*21391G>C" "r.(=)" "p.(=)" "" "0000326965" "00016799" "50" "19395" "0" "19395" "0" "c.*17211A>C" "r.(=)" "p.(=)" "" "0000326966" "00016799" "50" "3089" "0" "3089" "0" "c.*905T>C" "r.(=)" "p.(=)" "" "0000338112" "00016799" "10" "19195" "0" "19195" "0" "c.*17011G>A" "r.(=)" "p.(=)" "" "0000338113" "00016799" "10" "2770" "0" "2770" "0" "c.*586A>G" "r.(=)" "p.(=)" "" "0000340785" "00016799" "10" "47891" "0" "47891" "0" "c.*45707T>G" "r.(=)" "p.(=)" "" "0000340976" "00016799" "30" "47774" "0" "47774" "0" "c.*45590A>T" "r.(=)" "p.(=)" "" "0000342491" "00016799" "90" "37466" "0" "37466" "0" "c.*35282G>A" "r.(=)" "p.(=)" "" "0000342563" "00016799" "70" "883" "0" "883" "0" "c.883C>T" "r.(?)" "p.(Arg295Ter)" "" "0000342737" "00016799" "70" "22455" "0" "22455" "0" "c.*20271C>A" "r.(=)" "p.(=)" "" "0000345355" "00016799" "50" "23499" "0" "23499" "0" "c.*21315T>G" "r.(=)" "p.(=)" "" "0000346182" "00016799" "70" "3160" "0" "3160" "0" "c.*976C>T" "r.(=)" "p.(=)" "" "0000347228" "00016799" "50" "3267" "0" "3269" "0" "c.*1083_*1085del" "r.(=)" "p.(=)" "" "0000347874" "00016799" "10" "3105" "0" "3105" "0" "c.*921C>T" "r.(=)" "p.(=)" "" "0000348481" "00016799" "90" "9683" "0" "9683" "0" "c.*7499G>C" "r.(=)" "p.(=)" "" "0000348772" "00016799" "70" "42752" "0" "42752" "0" "c.*40568G>A" "r.(=)" "p.(=)" "" "0000349087" "00016799" "70" "3319" "0" "3319" "0" "c.*1135G>A" "r.(=)" "p.(=)" "" "0000349339" "00016799" "50" "42689" "0" "42689" "0" "c.*40505G>A" "r.(=)" "p.(=)" "" "0000349362" "00016799" "90" "42117" "0" "42117" "0" "c.*39933G>A" "r.(=)" "p.(=)" "" "0000516027" "00016799" "30" "47774" "0" "47774" "0" "c.*45590A>T" "r.(=)" "p.(=)" "" "0000516028" "00016799" "30" "47764" "0" "47764" "0" "c.*45580G>A" "r.(=)" "p.(=)" "" "0000516029" "00016799" "50" "47625" "0" "47625" "0" "c.*45441T>G" "r.(=)" "p.(=)" "" "0000516030" "00016799" "30" "42689" "0" "42689" "0" "c.*40505G>A" "r.(=)" "p.(=)" "" "0000516031" "00016799" "50" "42689" "0" "42689" "0" "c.*40505G>A" "r.(=)" "p.(=)" "" "0000516032" "00016799" "50" "37477" "0" "37477" "0" "c.*35293A>G" "r.(=)" "p.(=)" "" "0000516033" "00016799" "70" "37441" "0" "37441" "0" "c.*35257A>C" "r.(=)" "p.(=)" "" "0000516034" "00016799" "50" "23451" "0" "23451" "0" "c.*21267G>A" "r.(=)" "p.(=)" "" "0000516035" "00016799" "90" "10887" "0" "10887" "0" "c.*8703A>G" "r.(=)" "p.(=)" "" "0000516036" "00016799" "90" "9629" "0" "9629" "0" "c.*7445C>T" "r.(=)" "p.(=)" "" "0000516037" "00016799" "50" "3224" "0" "3224" "0" "c.*1040A>C" "r.(=)" "p.(=)" "" "0000516038" "00016799" "30" "3192" "0" "3192" "0" "c.*1008G>A" "r.(=)" "p.(=)" "" "0000516039" "00016799" "50" "3163" "0" "3163" "0" "c.*979A>G" "r.(=)" "p.(=)" "" "0000516040" "00016799" "30" "983" "0" "983" "0" "c.983C>T" "r.(?)" "p.(Ala328Val)" "" "0000621075" "00016799" "50" "37505" "0" "37505" "0" "c.*35321T>C" "r.(=)" "p.(=)" "" "0000621078" "00016799" "30" "101" "0" "101" "0" "c.101C>T" "r.(?)" "p.(Ala34Val)" "" "0000654662" "00016799" "90" "10887" "0" "10887" "0" "c.*8703A>T" "r.(=)" "p.(=)" "" "0000666205" "00016799" "70" "1633" "0" "1633" "0" "c.1633C>T" "r.(?)" "p.(Gln545*)" "" "0000688787" "00016799" "50" "3277" "0" "3277" "0" "c.*1093T>C" "r.(=)" "p.(=)" "" "0000718825" "00016799" "50" "42764" "0" "42764" "0" "c.*40580G>A" "r.(=)" "p.(=)" "" "0000718826" "00016799" "50" "42117" "0" "42117" "0" "c.*39933G>A" "r.(=)" "p.(=)" "" "0000718827" "00016799" "90" "37466" "0" "37466" "0" "c.*35282G>A" "r.(=)" "p.(=)" "" "0000718828" "00016799" "90" "10887" "0" "10887" "0" "c.*8703A>T" "r.(=)" "p.(=)" "" "0000718829" "00016799" "90" "1879" "0" "1879" "0" "c.1879C>T" "r.(?)" "p.(Gln627*)" "" "0000800658" "00016799" "30" "47997" "0" "47997" "0" "c.*45813T>C" "r.(=)" "p.(=)" "" "0000800659" "00016799" "30" "47774" "0" "47774" "0" "c.*45590A>T" "r.(=)" "p.(=)" "" "0000800660" "00016799" "30" "42747" "0" "42747" "0" "c.*40563G>C" "r.(=)" "p.(=)" "" "0000800661" "00016799" "30" "22514" "0" "22514" "0" "c.*20330C>T" "r.(=)" "p.(=)" "" "0000800662" "00016799" "30" "10889" "0" "10889" "0" "c.*8705G>A" "r.(=)" "p.(=)" "" "0000800663" "00016799" "90" "10887" "0" "10887" "0" "c.*8703A>G" "r.(=)" "p.(=)" "" "0000800664" "00016799" "50" "3116" "0" "3116" "0" "c.*932G>T" "r.(=)" "p.(=)" "" "0000800665" "00016799" "30" "175" "0" "175" "0" "c.175T>A" "r.(?)" "p.(Ser59Thr)" "" "0000829418" "00016799" "50" "-8388608" "0" "8388607" "0" "c.-17494327_*16948087dup" "r.0?" "p.0?" "" "0000849910" "00016799" "30" "47705" "0" "47705" "0" "c.*45521G>A" "r.(=)" "p.(=)" "" "0000849911" "00016799" "30" "23559" "0" "23559" "0" "c.*21375C>T" "r.(=)" "p.(=)" "" "0000849912" "00016799" "30" "19266" "0" "19266" "0" "c.*17082C>G" "r.(=)" "p.(=)" "" "0000849913" "00016799" "10" "10889" "0" "10889" "0" "c.*8705G>A" "r.(=)" "p.(=)" "" "0000858555" "00025946" "50" "659" "0" "659" "0" "c.659A>C" "r.(?)" "p.(Glu220Ala)" "" "0000858555" "00016799" "50" "926" "0" "926" "0" "c.926A>C" "r.(?)" "p.(Glu309Ala)" "" "0000885216" "00016799" "30" "42689" "0" "42689" "0" "c.*40505G>A" "r.(=)" "p.(=)" "" "0000885217" "00016799" "30" "37438" "0" "37438" "0" "c.*35254A>G" "r.(=)" "p.(=)" "" "0000885218" "00016799" "50" "23539" "0" "23539" "0" "c.*21355C>A" "r.(=)" "p.(=)" "" "0000885219" "00016799" "70" "19330" "0" "19330" "0" "c.*17146dup" "r.(?)" "p.(=)" "" "0000911718" "00016799" "10" "23575" "0" "23575" "0" "c.*21391G>C" "r.(=)" "p.(=)" "" "0000911719" "00016799" "30" "19265" "0" "19265" "0" "c.*17081G>A" "r.(=)" "p.(=)" "" "0000911720" "00016799" "30" "3192" "0" "3192" "0" "c.*1008G>A" "r.(=)" "p.(=)" "" "0000911721" "00025946" "30" "2909" "0" "2909" "0" "c.*992C>T" "r.(=)" "p.(=)" "" "0000911721" "00016799" "30" "3176" "0" "3176" "0" "c.*992C>T" "r.(=)" "p.(=)" "" "0000923708" "00016799" "30" "22560" "0" "22560" "0" "c.*20376G>A" "r.(=)" "p.(=)" "" "0000923709" "00025946" "30" "1595" "0" "1595" "0" "c.1595A>G" "r.(?)" "p.(Lys532Arg)" "" "0000923709" "00016799" "30" "1862" "0" "1862" "0" "c.1862A>G" "r.(?)" "p.(Lys621Arg)" "" "0000923710" "00025946" "30" "687" "0" "687" "0" "c.687A>G" "r.(?)" "p.(Glu229=)" "" "0000923710" "00016799" "30" "954" "0" "954" "0" "c.954A>G" "r.(?)" "p.(Glu318=)" "" "0000928603" "00016799" "50" "23451" "0" "23451" "0" "c.*21267G>A" "r.(=)" "p.(=)" "" "0000928604" "00016799" "30" "19400" "0" "19400" "0" "c.*17216A>G" "r.(=)" "p.(=)" "" "0000936414" "00016799" "50" "1325" "0" "1325" "0" "c.1325G>A" "r.(?)" "p.(Arg442His)" "" "0000947880" "00016799" "50" "42084" "0" "42084" "0" "c.*39900C>T" "r.(=)" "p.(=)" "" "0000947881" "00016799" "90" "19372" "0" "19373" "0" "c.*17188_*17189del" "r.(=)" "p.(=)" "" "0000962111" "00016799" "70" "42752" "0" "42752" "0" "c.*40568G>A" "r.(=)" "p.(=)" "" "0000962112" "00016799" "50" "42687" "0" "42687" "0" "c.*40503T>C" "r.(=)" "p.(=)" "" "0000975286" "00016799" "50" "47968" "0" "47968" "0" "c.*45784T>A" "r.(=)" "p.(=)" "" "0000975287" "00016799" "50" "47683" "0" "47683" "0" "c.*45499T>C" "r.(=)" "p.(=)" "" "0000975288" "00016799" "70" "42153" "0" "42153" "0" "c.*39969C>A" "r.(=)" "p.(=)" "" "0000975289" "00016799" "90" "42117" "0" "42117" "0" "c.*39933G>A" "r.(=)" "p.(=)" "" "0000975290" "00016799" "50" "37441" "0" "37441" "0" "c.*35257A>G" "r.(=)" "p.(=)" "" "0000975291" "00016799" "50" "19377" "0" "19377" "0" "c.*17193T>C" "r.(=)" "p.(=)" "" "0000975292" "00016799" "30" "19266" "0" "19266" "0" "c.*17082C>G" "r.(=)" "p.(=)" "" "0000975293" "00016799" "90" "10887" "0" "10887" "0" "c.*8703A>G" "r.(=)" "p.(=)" "" "0000975294" "00016799" "50" "3160" "0" "3160" "0" "c.*976C>T" "r.(=)" "p.(=)" "" "0000975295" "00025946" "30" "2846" "0" "2846" "0" "c.*929C>T" "r.(=)" "p.(=)" "" "0000975295" "00016799" "30" "3113" "0" "3113" "0" "c.*929C>T" "r.(=)" "p.(=)" "" "0000975296" "00016799" "30" "3105" "0" "3105" "0" "c.*921C>T" "r.(=)" "p.(=)" "" "0000975297" "00025946" "30" "702" "6" "702" "6" "c.702+6C>T" "r.(=)" "p.(=)" "" "0000975297" "00016799" "30" "969" "6" "969" "6" "c.969+6C>T" "r.(=)" "p.(=)" "" "0000975298" "00025946" "50" "-49" "1340" "-49" "1340" "c.-49+1340A>T" "r.(=)" "p.(=)" "" "0000975298" "00016799" "50" "-325" "0" "-325" "0" "c.-325A>T" "r.(?)" "p.(=)" "" "0000992873" "00016799" "30" "10797" "0" "10797" "0" "c.*8613C>G" "r.(=)" "p.(=)" "" "0000992874" "00025946" "30" "-49" "1888" "-49" "1888" "c.-49+1888G>A" "r.(=)" "p.(=)" "" "0000992874" "00016799" "30" "219" "5" "219" "5" "c.219+5G>A" "r.spl?" "p.?" "" "0001008497" "00025946" "90" "" "0" "" "0" "c.-49+6299_*3746{0}" "r.?" "p.?" "1i_14_" "0001008498" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008499" "00025946" "90" "" "0" "" "0" "c.1480-1251_*3746{0}" "r.?" "p.?" "" "0001008500" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008501" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008502" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008503" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008504" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008505" "00025946" "90" "" "0" "" "0" "c.1480-1251_*3746{0}" "r.?" "p.?" "" "0001008506" "00025946" "90" "" "0" "" "0" "c.888+1146_*3746{0}" "r.?" "p.?" "" "0001008507" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008508" "00025946" "90" "" "0" "" "0" "c.-49+6299_*3746{0}" "r.?" "p.?" "1i_14_" "0001008509" "00025946" "90" "" "0" "" "0" "c.-49+6299_*3746{0}" "r.?" "p.?" "1i_14_" "0001008510" "00025946" "90" "" "0" "" "0" "c.-49+6299_*3746{0}" "r.?" "p.?" "1i_14_" "0001008511" "00025946" "90" "" "0" "" "0" "c.-48-6973_*3746{0}" "r.?" "p.?" "1i_14_" "0001008591" "00025946" "90" "" "0" "" "0" "c.485+1_486-1_*3746{0}" "r.?" "p.?" "5i_14_" "0001013738" "00016799" "50" "47619" "0" "47619" "0" "c.*45435C>G" "r.(=)" "p.(=)" "" "0001013739" "00016799" "30" "22514" "0" "22514" "0" "c.*20330C>T" "r.(=)" "p.(=)" "" "0001013740" "00016799" "90" "307" "0" "307" "0" "c.307C>T" "r.(?)" "p.(Gln103Ter)" "" "0001033342" "00016799" "50" "47764" "0" "47764" "0" "c.*45580G>A" "r.(=)" "p.(=)" "" "0001033343" "00016799" "50" "42687" "0" "42687" "0" "c.*40503T>C" "r.(=)" "p.(=)" "" "0001033344" "00016799" "50" "42084" "0" "42084" "0" "c.*39900C>T" "r.(=)" "p.(=)" "" "0001033345" "00016799" "70" "22465" "0" "22465" "0" "c.*20281G>A" "r.(=)" "p.(=)" "" "0001033346" "00016799" "50" "9611" "0" "9611" "0" "c.*7427T>C" "r.(=)" "p.(=)" "" "0001033347" "00025946" "50" "2665" "0" "2665" "0" "c.*748C>T" "r.(=)" "p.(=)" "" "0001033347" "00016799" "50" "2932" "0" "2932" "0" "c.*748C>T" "r.(=)" "p.(=)" "" "0001033348" "00025946" "50" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Arg353Cys)" "" "0001033348" "00016799" "50" "1324" "0" "1324" "0" "c.1324C>T" "r.(?)" "p.(Arg442Cys)" "" "0001033349" "00025946" "50" "967" "0" "967" "0" "c.967A>G" "r.(?)" "p.(Ile323Val)" "" "0001033349" "00016799" "50" "1234" "0" "1234" "0" "c.1234A>G" "r.(?)" "p.(Ile412Val)" "" "0001033350" "00025946" "70" "888" "2" "888" "2" "c.888+2T>C" "r.spl?" "p.?" "" "0001033350" "00016799" "70" "1155" "2" "1155" "2" "c.1155+2T>C" "r.spl?" "p.?" "" "0001033351" "00025946" "50" "508" "0" "508" "0" "c.508A>G" "r.(?)" "p.(Thr170Ala)" "" "0001033351" "00016799" "50" "775" "0" "775" "0" "c.775A>G" "r.(?)" "p.(Thr259Ala)" "" "0001033352" "00025946" "10" "303" "0" "303" "0" "c.303C>A" "r.(?)" "p.(Ser101Arg)" "" "0001033352" "00016799" "10" "570" "0" "570" "0" "c.570C>A" "r.(?)" "p.(Ser190Arg)" "" "0001033353" "00025946" "50" "-21" "0" "-1" "0" "c.-21_-1dup" "r.(?)" "p.(=)" "" "0001033353" "00016799" "50" "247" "0" "267" "0" "c.247_267dup" "r.(?)" "p.(Glu83_Asn89dup)" "" "0001033354" "00025946" "30" "-49" "1724" "-49" "1724" "c.-49+1724A>C" "r.(=)" "p.(=)" "" "0001033354" "00016799" "30" "60" "0" "60" "0" "c.60A>C" "r.(?)" "p.(Gly20=)" "" "0001049805" "00025946" "70" "1216" "0" "1216" "0" "c.1216C>T" "r.(?)" "p.(Arg406Trp)" "" "0001049805" "00016799" "70" "1483" "0" "1483" "0" "c.1483C>T" "r.(?)" "p.(Arg495Trp)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 19 "{{screeningid}}" "{{variantid}}" "0000302848" "0000666205" "0000440119" "0000936414" "0000456269" "0001008497" "0000456270" "0001008498" "0000456271" "0001008499" "0000456272" "0001008500" "0000456273" "0001008501" "0000456273" "0001008508" "0000456274" "0001008502" "0000456274" "0001008509" "0000456275" "0001008503" "0000456275" "0001008510" "0000456276" "0001008504" "0000456277" "0001008505" "0000456278" "0001008506" "0000456278" "0001008511" "0000456279" "0001008507" "0000456329" "0001008591" "0000469471" "0001049805"