### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SLC7A7)
# 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}}"
"SLC7A7"	"solute carrier family 7 (amino acid transporter light chain, y+L system), member 7"	"14"	"q11.2"	"unknown"	"NG_012851.2"	"UD_134408382996"	""	"https://www.LOVD.nl/SLC7A7"	"Finnish Disease Database (FinDis) <http://www.findis.org/>"	"1"	"11065"	"9056"	"603593"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.\r\n\r\nThis database was initially part of the Finnish Disease Resource (FinDis; Polvi et al: Hum Mutat. 2013:34:1458-66). We gratefully acknowledge the support of <b>Juha Muilu</b> acting as curator until 2015."	""	"g"	"http://databases.lovd.nl/shared/refseq/SLC7A7_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00008"	"2012-08-30 00:00:00"	"00006"	"2019-07-21 20:42:47"	"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}}"
"00000287"	"SLC7A7"	"transcript variant 2"	"002"	"NM_001126105.2"	""	"NP_001119577.1"	""	""	""	"-242"	"1924"	"1536"	"23285107"	"23242431"	"00008"	"2012-08-30 17:50:38"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00051"	"LPI"	"lysinuric protein intolerance (LP!)"	"AR"	"222700"	""	""	""	"00008"	"2012-08-30 17:48:42"	"00006"	"2021-12-10 21:51:32"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SLC7A7"	"00051"


## Individuals ## Do not remove or alter this header ##
## Count = 4
"{{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}}"
"00081066"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00290977"	""	""	""	"1"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290978"	""	""	""	"7"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00290979"	""	""	""	"15"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 4
"{{individualid}}"	"{{diseaseid}}"
"00081066"	"00051"
"00290977"	"00198"
"00290978"	"00198"
"00290979"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00051, 00198
## Count = 1
"{{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}}"
"0000060635"	"00051"	"00081066"	"01758"	"Familial, autosomal recessive"	""	"Lysinuric protein intolerance (OMIM:222700)"	""	""	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000081178"	"00081066"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000292145"	"00290977"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292146"	"00290978"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000292147"	"00290979"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000081178"	"SLC7A7"


## 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 = 121
"{{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}}"
"0000016678"	"3"	"99"	"14"	"23282109"	"23284530"	"del"	"0"	"00015"	"SLC7A7_000001"	"g.23282109_23284530del"	""	"{PMID:Bosrsani et al. 1999:10080183}"	""	"197del543 (cDNA): removes the first methionine at position 242 as well as 167 codons downstream; c.-45_499del p.M1_C167del"	"1 Italian LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22812900_22815321del"	""	"pathogenic"	""
"0000016679"	"3"	"99"	"14"	"23282607"	"23282607"	"subst"	"0"	"00015"	"SLC7A7_000002"	"g.23282607T>G"	""	"{PMID:Sperandeo et al. 2000:10631139}"	""	"242A>C: M1L"	"1 Italian (Puglia) LPI family (hom)"	"SUMMARY record"	"yes"	"rs121908676"	""	""	""	"g.22813398T>G"	""	"pathogenic"	""
"0000016680"	"0"	"77"	"14"	"23282594"	"23282594"	"subst"	"0"	"00015"	"SLC7A7_000003"	"g.23282594G>A"	""	"{PMID:Sperandeo et al. 2008:17764084}"	""	""	"1 Italian LPI family (hom); Variants c.14C>T and c.158C>T segregate together so it is unclear which is (or both are) causative"	"SUMMARY record"	"yes"	""	""	""	""	"g.22813385G>A"	""	"likely pathogenic"	""
"0000016681"	"1"	"99"	"14"	"23282502"	"23282504"	"del"	"0"	"00015"	"SLC7A7_000004"	"g.23282502_23282504del"	""	"{PMID:Sperandeo et al. 2005:15756301}"	""	"deletion of nucleotides 104–106 from the first methionine of the SLC7A7 cDNA: E36del; c.104_106delGGA p.E36del"	"1 Greek LPI patient (com-het); Functional studies: mutated protein failed to show transport activity"	"SUMMARY record"	"yes"	""	""	""	""	"g.22813293_22813295del"	""	"pathogenic"	""
"0000016682"	"11"	"99"	"14"	"23282459"	"23282459"	"subst"	"0"	"00015"	"SLC7A7_000005"	"g.23282459A>T"	""	"{PMID:Palacín et al. 2001:11377971}, {PMID:Sperandeo et al. 2005:15776427}"	""	"435T>A: M50K; p.M50K (c.149T>A)"	"1 Italian LPI family (het); Functional studies confirmed disease-causative role"	"SUMMARY record"	"yes"	""	""	""	""	"g.22813250A>T"	""	"pathogenic"	""
"0000016683"	"3"	"99"	"14"	"23282447"	"23282447"	"subst"	"0"	"00015"	"SLC7A7_000006"	"g.23282447C>A"	""	"{PMID:Mykkänen et al. 2000:10655553}"	""	"447G>T (exon 3): G54V"	"1 Latvian and 1 Estonian (both hom) LPI family; Functional analysis: loss of function"	"SUMMARY record"	"yes"	"rs121908677"	"0"	""	""	"g.22813238C>A"	""	"pathogenic"	""
"0000016684"	"1"	"77"	"14"	"23282237"	"23282237"	"subst"	"4.0871E-6"	"00015"	"SLC7A7_000007"	"g.23282237A>G"	"0/50 CON"	"{PMID:Sperandeo et al. 2008:17764084}, {PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.370T>C p.L124P"	"2 Greek LPI families (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22813028A>G"	""	"likely pathogenic"	""
"0000016685"	"1"	"77"	"14"	"23282190"	"23282190"	"subst"	"1.22938E-5"	"00015"	"SLC7A7_000008"	"g.23282190C>G"	""	"{PMID:Sperandeo_2008:17764084}"	""	"c.418G>C p.A140P"	"1 Italian LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22812981C>G"	""	"likely pathogenic"	""
"0000016686"	"3"	"99"	"14"	"23282395"	"23282398"	"del"	"0"	"00015"	"SLC7A7_000009"	"g.23282395_23282398del"	""	"{PMID:Sperandeo et al. 2000:10631139}"	""	"455delCTCT: Frameshift after Leu71, termination at codon 167; c.211_214delCTCT p.S72WfsX97"	"1 Italian (Molise) LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22813186_22813189del"	""	"pathogenic"	""
"0000016687"	"3"	"99"	"14"	"23282354"	"23282355"	"del"	"0"	"00015"	"SLC7A7_000010"	"g.23282354_23282355del"	""	"{PMID:Mykkänen et al. 2000:10655553}"	""	"539delTT (exon 3)  Frameshift after V84; c.253_254delTT p.F85WfsX13"	"1 Turkish LPI family (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22813145_22813146del"	""	"pathogenic"	""
"0000016688"	"1"	"99"	"14"	"23282154"	"23282154"	"subst"	"0"	"00015"	"SLC7A7_000011"	"g.23282154A>G"	""	"{PMID:Sperandeo 2005:15756301}"	""	"from the first methionine, 453T>C: F152L"	"1 Greek LPI patient (com-het); Functional studies: mutated protein showed moderately reduced transport activity"	"SUMMARY record"	"yes"	""	""	""	""	"g.22812945A>G"	""	"pathogenic"	""
"0000016689"	"1"	"99"	"14"	"23282108"	"23282108"	"subst"	"0"	"00015"	"SLC7A7_000012"	"g.23282108C>T"	""	"{PMID:Sperandeo et al. 2000:10631139}, {PMID:Kamada et al. 2001:11544277}"	""	"IVS3 +1G>A in donor of intron 3; IVS3 +1G>A: exon 3 skipping"	"2 Japanese LPI families (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22812899C>T"	""	"pathogenic"	""
"0000016690"	"3"	"99"	"14"	"23249135"	"23249260"	""	"0"	"00015"	"SLC7A7_000013"	"g.(?_23249135)_(23249260_?)del"	""	"{PMID:Palacín et al. 2001:11377971}, {PMID:Sperandeo et al. 2005:15776427}"	""	"786del125: Frameshift after I166 (EX4); c.499+?_629-?, genomic rearrangement causing the deletion of the entire exon 4 at the cDNA level; c.500-?_625+?del: p.C167_G209delinsX"	"1 Pakistani LPI family (hom)."	"SUMMARY record"	"yes"	""	""	""	""	"g.22779926_22780051del"	""	"pathogenic"	""
"0000016692"	"1"	"99"	"14"	"23248002"	"23249260"	""	"0"	"00015"	"SLC7A7_000014"	"g.(?_23248002)_(23249260_?)del"	"0/50 JAP CON"	"{PMID:Shoji et al. 2002:12402335}, {PMID:Kamada et al. 2001:11544277}"	""	"IVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 deletion in cDNAIVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 deletion in cDNAIVS3-IVS5del9.7kb (intron 3 - intron 5) : exon 4 and 5 del"	"2 Japanese LPI families (1 hom and 1 com-het), 1 Japanese LPI family (com-het); Deletion from intron 3 to intron 5 > deletion of exons 4 and 5"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22778793_22780051del"	""	"pathogenic"	""
"0000016693"	"11"	"99"	"14"	"23241434"	"23253569"	"del"	"0"	"00015"	"SLC7A7_000016"	"g.23241434_23253569del"	"0/50 CON"	"{PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.500-4294_1908+1028 del12136: p.L168_N511delfsX19"	"1 Spanish LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22772225_22784360del"	""	"pathogenic"	""
"0000016694"	"3"	"99"	"14"	"23249215"	"23249215"	"dup"	"0"	"00015"	"SLC7A7_000017"	"g.23249215dup"	""	"{PMID:Sperandeo et al. 2000:10631139}"	""	"786insT: Frameshift after Leu182, termination at codon 190; c.545_546insT"	"1 Italian (Sicilia) LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22780006dup"	""	"pathogenic"	""
"0000016695"	"11"	"99"	"14"	"23249197"	"23249197"	"subst"	"0"	"00015"	"SLC7A7_000018"	"g.23249197G>A"	""	"{PMID:Palacín et al. 2001:11377971}, {PMID:Sperandeo et al. 2005:15776427}"	""	"849C>T: T188I; p.T188I (c.563C>T)"	"1 Greek LPI family (com-het); Functional studies confirmed disease-causative role"	"SUMMARY record"	"yes"	""	""	""	""	"g.22779988G>A"	""	"pathogenic"	""
"0000016696"	"1"	"77"	"14"	"23249189"	"23249189"	"subst"	"0"	"00015"	"SLC7A7_000019"	"g.23249189T>C"	""	"{PMID:Sperandeo_2008:17764084}"	""	"c.571A>G p.K191E"	"1 German LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22779980T>C"	""	"likely pathogenic"	""
"0000016697"	"1"	"99"	"14"	"23249138"	"23249138"	"subst"	"0"	"00015"	"SLC7A7_000020"	"g.23249138G>A"	""	"{PMID:Sperandeo_2008:17764084}"	""	"c.622C>T p.Q208X"	"1 German LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22779929G>A"	""	"pathogenic"	""
"0000016698"	"0"	"99"	"14"	"23249134"	"23249134"	"subst"	"4.06151E-5"	"00015"	"SLC7A7_000021"	"g.23249134C>T"	"0/50 JAP CON"	"{PMID:Mykkanen et al. 2000:10655553}, {PMID:Noguchi et al.v2000:10737982}, {PMID: Ko et al. 2012:22876067}"	""	"911+1G>A; IVS4+1G>A"	"1 Turkish (hom) and 1 Korean (hom) LPI family,  3 Japanese (com-het) LPI families; Mutation causes exon 4 skipping"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22779925C>T"	""	"pathogenic"	""
"0000016699"	"11"	"77"	"14"	"23249134"	"23249134"	"subst"	"0"	"00015"	"SLC7A7_000022"	"g.23249134C>G"	"0/50 CON"	"{PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.625+1G>C: p.C167_G209delinsX"	"1 English/Argentinean LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22779925C>G"	""	"likely pathogenic"	""
"0000016700"	"1"	"77"	"14"	"23248059"	"23248059"	"subst"	"0"	"00015"	"SLC7A7_000023"	"g.23248059G>A"	"0/50 JAP CON"	"{PMID:Shoji et al. 2002:12402335}"	""	"TCC>TTC: S238F"	"8 Japanese LPI families (3 hom and 5 com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22778850G>A"	""	"likely pathogenic"	""
"0000016701"	"3"	"99"	"14"	"23248046"	"23248046"	"subst"	"8.12176E-6"	"00015"	"SLC7A7_000024"	"g.23248046C>T"	""	"{PMID:Sperandeo et al. 2000:10631139}, {PMID:Mykkanen et al. 2000:10655553}"	""	"967G>A: W242X; 1012G>A: W242X"	"2 Italian, 1 North African and 3 Moroccan LPI families (all hom)"	"SUMMARY record"	"yes"	"rs121908679"	""	""	""	"g.22778837C>T"	""	"pathogenic"	""
"0000016702"	"1"	"77"	"14"	"23248019"	"23248019"	"subst"	"0"	"00015"	"SLC7A7_000025"	"g.23248019C>A"	""	"{PMID:Sperandeo_2008:17764084}"	""	"c.753G>T p.E251D"	"1 Italian LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22778810C>A"	""	"likely pathogenic"	""
"0000016703"	"3"	"99"	"14"	"23241729"	"23246375"	"del"	"0"	"00015"	"SLC7A7_000026"	"g.23241729_23246375del"	"0/50 CON"	"{PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.771-848_1908+718del4647: p.N258_N511delinsX"	"1 Spanish LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22772520_22777166del"	""	"pathogenic"	""
"0000016704"	"1"	"77"	"14"	"23245516"	"23245516"	"subst"	"4.06171E-6"	"00015"	"SLC7A7_000027"	"g.23245516A>G"	""	"{PMID:Sperandeo_2008:17764084}"	""	"c.782T>C p.L261P"	"1 Italian LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22776307A>G"	""	"likely pathogenic"	""
"0000016705"	"21"	"99"	"14"	"23245478"	"23245478"	"dup"	"0"	"00015"	"SLC7A7_000028"	"g.23245478dup"	"0/50 CON"	"{PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.820dupT: p.Y274fsX21"	"1 English/Argentinean LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22776269dup"	""	"pathogenic"	""
"0000016706"	"1"	"77"	"14"	"23245403"	"23245403"	"subst"	"0"	"00015"	"SLC7A7_000029"	"g.23245403C>A"	""	"{PMID:Sperandeo et al. 2000:10631139}"	""	"IVS6 +1G>T in donor of intron 6: no RNA studies"	"1 Japanese LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22776194C>A"	""	"likely pathogenic"	""
"0000016707"	"3"	"99"	"14"	"23245147"	"23245147"	"subst"	"0.000459003"	"00015"	"SLC7A7_000030"	"g.23245147T>A"	""	"{PMID:Torrens et al. 1999:10080182}, {PMID:Bosrsani et al. 1999:10080183}"	""	"genomic change 1181-2A>T leads to alternative splicing: c.1181delACTTTTGCAG"	"Finnish Major LPI mutation: 35 Finnish LPI patients (hom); Functional analysis: loss of function"	"SUMMARY record"	"yes"	"rs146582474"	""	""	""	"g.22775938T>A"	""	"pathogenic"	""
"0000016708"	"3"	"77"	"14"	"23245147"	"23245147"	"subst"	"0"	"00015"	"SLC7A7_000031"	"g.23245147T>C"	""	"{PMID:Cimbalistiene et al. 2007:17666782}"	""	"A-to-G transition in a splice acceptor sequence 6 (IVS6-2A G)"	"1 Lithuanian LPI patient (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22775938T>C"	""	"likely pathogenic"	""
"0000016709"	"3"	"99"	"14"	"23245042"	"23245042"	"subst"	"0"	"00015"	"SLC7A7_000032"	"g.23245042C>A"	""	"{PMID:Sperandeo et al. 2005:15776427}"	""	"p.R333M (c.997G>T)"	"1 Turkish LPI family (hom); Several different transcripts: a full length transcript with the R333M mutation and three shorter transcripts with skipping of exon 7 or  exons 7 and 9 or exons 6, 7 and 9."	"SUMMARY record"	"yes"	""	""	""	""	"g.22775833C>A"	""	"pathogenic"	""
"0000016710"	"1"	"77"	"14"	"23245041"	"23245041"	"subst"	"0"	"00015"	"SLC7A7_000033"	"g.23245041C>A"	"0/50 JAP CON"	"{PMID:Shoji et al. 2002:12402335}"	""	"1284+1G>T"	"3 Japanese LPI families (all com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22775832C>A"	""	"likely pathogenic"	""
"0000016711"	"1"	"99"	"14"	"23244747"	"23244747"	"subst"	"8.12902E-6"	"00015"	"SLC7A7_000034"	"g.23244747A>C"	"0/50 CON"	"{PMID: Torrens et al. 1999:10080182}, {PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.1287T>G: L334R"	"1 Spanish LPI family (com-het) and 1 Chilean sibpair (hom) with LPI; Mutation nearly abolished (approximately 10% residual activity) sodium-independent L-arginine and sodium-dependent L-leucine transport activity"	"SUMMARY record"	"yes"	"rs72552272"	""	""	""	"g.22775538A>C"	""	"pathogenic"	""
"0000016712"	"11"	"99"	"14"	"23244743"	"23244746"	"del"	"0"	"00015"	"SLC7A7_000035"	"g.23244743_23244746del"	""	"{PMID: Torrens et al. 1999:10080182}, {PMID:Mykkanen et al. 2000:10655553}, {PMID:Shoji et al. 2002:12402335}"	""	"1291delCTTT: framesift"	"3 Spanish LPI families (1 hom and 2 com-het) and 1 Japanese LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22775534_22775537del"	""	"pathogenic"	""
"0000016713"	"3"	"77"	"14"	"23244735"	"23244735"	"subst"	"4.06431E-6"	"00015"	"SLC7A7_000036"	"g.23244735C>T"	""	"{PMID:Mykkanen et al. 2000:10655553}"	""	"1299G→A (exon 8):  G338D"	"1 Swedish LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22775526C>T"	""	"likely pathogenic"	""
"0000016714"	"1"	"77"	"14"	"23244655"	"23244655"	"subst"	"0"	"00015"	"SLC7A7_000037"	"g.23244655T>A"	""	"{PMID:Sperandeo_2008:17764084}"	""	"c.1093A>T p.N365Y"	"1 German LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22775446T>A"	""	"likely pathogenic"	""
"0000016715"	"3"	"99"	"14"	"23243657"	"23243661"	"dup"	"0"	"00015"	"SLC7A7_000038"	"g.23243657_23243661dup"	""	"{PMID:Mykkanen et al. 2000:10655553}"	""	"1438duplAACTA (exon 9):  Y384X"	"1 Canadian LPI family (het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22774448_22774452dup"	""	"pathogenic"	""
"0000016716"	"3"	"99"	"14"	"23243650"	"23243650"	"subst"	"4.06164E-6"	"00015"	"SLC7A7_000039"	"g.23243650G>T"	""	"{PMID:Sperandeo et al. 2000:10631139}, {PMID:Sperandeo et al. 2005:15776427}"	""	"1399C>A: S386R"	"2 Italian (Calabria) LPI families (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22774441G>T"	""	"pathogenic"	""
"0000016717"	"3"	"99"	"14"	"23243622"	"23243625"	"del"	"0"	"00015"	"SLC7A7_000040"	"g.23243622_23243625del"	"0/50 CON"	"{PMID:Sperandeo et al. 2000:10631139}, {PMID:Mykkanen et al. 2000:10655553}, {PMID:Sperandeo et al. 2005:15776427}, {PMID:Font-Llitjos et al. 2009:18716612}"	""	"1425delTTCT: Frameshift after Leu395, termination at codon 516; 1471delTTCT: Frameshift after L395; c.1185_1188delTTCT: p.S396fsX121"	"1 Italian, 1 Tunisian, 1 German and 1 Spanish LPI family (all hom) and 1 French-Algerian LPI family 1 (com-het); Functional studies confirmed disease-causative role"	"SUMMARY record"	"yes"	""	""	""	""	"g.22774413_22774416del"	""	"pathogenic"	""
"0000016718"	"3"	"99"	"14"	"23243580"	"23243580"	"subst"	"4.06388E-6"	"00015"	"SLC7A7_000041"	"g.23243580G>A"	"0/50 JAP CON"	"{PMID:Noguchi et al.v2000:10737982}, {PMID:Shoji et al. 2002:12402335}, {PMID:Font-Llitjos et al. 2009:18716612}"	""	"CGA>TGA: R410X"	"12 Japanese LPI families (7 hom and 5 com-het) and  1 Moroccan LPI family (hom)"	"SUMMARY record"	"yes"	"rs121908678"	""	""	""	"g.22774371G>A"	""	"pathogenic"	""
"0000016719"	"3"	"99"	"14"	"23243311"	"23243311"	"del"	"0"	"00015"	"SLC7A7_000042"	"g.23243311del"	""	"{PMID:Mykkanen et al. 2000:10655553}"	""	"1548delC (exon 10)  Frameshift after F420"	"1 Arabic LPI family (hom); Functional analysis: loss of function"	"SUMMARY record"	"yes"	""	""	""	""	"g.22774102del"	""	"pathogenic"	""
"0000016720"	"21"	"77"	"14"	"23243298"	"23243298"	"subst"	"0"	"00015"	"SLC7A7_000043"	"g.23243298A>G"	"0/50 CON"	"{PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.1273T>C: p.C425R"	"1 Spanish LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22774089A>G"	""	"likely pathogenic"	""
"0000016721"	"1"	"99"	"14"	"23243228"	"23243228"	"del"	"0"	"00015"	"SLC7A7_000044"	"g.23243228del"	"0/50 JAP CON"	"{PMID:Shoji et al. 2002:12402335}"	""	"1630delC: premature stop codon at nucleotide 1839"	"1 Japanese LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22774019del"	""	"pathogenic"	""
"0000016722"	"1"	"99"	"14"	"23243200"	"23243200"	"subst"	"0"	"00015"	"SLC7A7_000045"	"g.23243200G>T"	""	"{PMID:Palacín et al. 2001:11377971}, {PMID:Sperandeo et al. 2005:15776427}, {PMID:Font-Llitjos et al. 2009:18716612}"	""	"1657C>A: Y457X; p.Y457X (c.1371C>A)"	"1 French-Algerian and 1 Greek LPI family (both com-het) and 1 Moroccan LPI family (hom); Functional studies confirmed disease-causative role"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773991G>T"	""	"pathogenic"	""
"0000016723"	"3"	"99"	"14"	"23243187"	"23243190"	"dup"	"0"	"00015"	"SLC7A7_000046"	"g.23243187_23243190dup"	""	"{PMID:Bosrsani et al. 1999:10080183}, {PMID:Sperandeo et al. 2000:10631139}"	""	"1625insATCA: frameshift that disrupts the reading frame at codon 462 and predicts translation termination 13 bp downstream; c.1384_1385insATCA"	"4 Italian LPI families (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773978_22773981dup"	""	"pathogenic"	""
"0000016724"	"1"	"99"	"14"	"23243184"	"23243184"	"del"	"8.12321E-6"	"00015"	"SLC7A7_000047"	"g.23243184del"	"0/50 JAP CON"	"{PMID:Shoji et al. 2002:12402335}"	""	"1673delG: premature stop codon at nucleotide 1841"	"1 Japanese LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773975del"	""	"pathogenic"	""
"0000016725"	"21"	"99"	"14"	"23243169"	"23243169"	"subst"	"1.2186E-5"	"00015"	"SLC7A7_000048"	"g.23243169G>A"	"0/50 CON"	"{PMID:Font-Llitjos et al. 2009:18716612}"	""	"c.1402C>T: p.R468X"	"1 Greek sibpair (com-het) with LPI"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773960G>A"	""	"pathogenic"	""
"0000016726"	"3"	"99"	"14"	"23243154"	"23243154"	"subst"	"1.62483E-5"	"00015"	"SLC7A7_000049"	"g.23243154G>A"	""	"{PMID:Mykkanen et al. 2000:10655553}"	""	"1707C→T (exon 11): R473X"	"1 Australian LPI family (hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773945G>A"	""	"pathogenic"	""
"0000016727"	"3"	"99"	"14"	"23242895"	"23242895"	"del"	"4.06101E-6"	"00015"	"SLC7A7_000050"	"g.23242895del"	""	"{PMID:Mykkanen et al. 2000:10655553}"	""	"1746delG (exon 11)  Frameshift after L486"	"1 Dutch and 1 Norwegian LPI family (both hom)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773686del"	""	"pathogenic"	""
"0000016728"	"1"	"77"	"14"	"23242890"	"23242890"	"subst"	"0"	"00015"	"SLC7A7_000051"	"g.23242890A>G"	"0/50 JAP CON"	"{PMID:Shoji et al. 2002:12402335}"	""	"TCA>CCA: S489P"	"1 Japanese LPI family (com-het)"	"SUMMARY record"	"yes"	""	""	""	""	"g.22773681A>G"	""	"likely pathogenic"	""
"0000017959"	"0"	"77"	"14"	"23282450"	"23282450"	"subst"	"0"	"00015"	"SLC7A7_000052"	"g.23282450G>A"	""	"{PMID:Sperandeo et al. 2008:17764084}"	""	""	"1 Italian LPI family (hom); Variants c.14C>T and c.158C>T segregate together so it is unclear which is (or both are) causative"	"SUMMARY record"	"yes"	""	""	""	""	"g.22813241G>A"	""	"likely pathogenic"	""
"0000020617"	"3"	"77"	"14"	"23282373"	"23282373"	"subst"	"4.06154E-6"	"00015"	"SLC7A7_000053"	"g.23282373C>T"	""	"{PMID:Habib et al. 2013:23358709}"	""	"235G>A"	"1 Malaysian LPI family (hom)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22813164C>T"	""	"likely pathogenic"	""
"0000039752"	"0"	"75"	"14"	"23282386"	"23282388"	"dup"	"0"	"00015"	"SLC7A7_000054"	"g.23282386_23282388dup"	""	"{PMID:Güzel-Ozantürk et al. 2013:23542076}"	""	"c.223insGTC, p.Val74_Ile75insVal"	"2 Turkish patients (1 hom and 1 het) with LPI"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22813177_22813179dup"	""	"likely pathogenic"	""
"0000039753"	"0"	"77"	"14"	"23282325"	"23282326"	"ins"	"0"	"00015"	"SLC7A7_000055"	"g.23282325_23282326insCCA"	""	"{PMID:Güzel-Ozantürk et al. 2013:23542076}"	""	"c.283insTGG, p.Glu94_Thr95insTrp"	"1 Turkish patient with LPI (het)"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22813116_22813117insCCA"	""	"likely pathogenic"	""
"0000039754"	"3"	"77"	"14"	"23282262"	"23282265"	"del"	"0"	"00015"	"SLC7A7_000056"	"g.23282262_23282265del"	""	"{PMID:Güzel-Ozantürk et al. 2013:23542076}"	""	"c.344_347delTTGC, p.Leu115LeufsX53"	"1 Turkish patient (hom) with LPI"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22813053_22813056del"	""	"likely pathogenic"	""
"0000039755"	"3"	"77"	"14"	"23243710"	"23243710"	"dup"	"0"	"00015"	"SLC7A7_000057"	"g.23243710dup"	""	"{PMID:Güzel-Ozantürk et al. 2013:23542076}"	""	"c.1099insT, p.Ile367TyrfsX16"	"2 Turkish patients (hom) with LPI"	"SUMMARY record"	"yes"	""	"0"	""	""	"g.22774501dup"	""	"likely pathogenic"	""
"0000130264"	"3"	"90"	"14"	"23245147"	"23245147"	"subst"	"0.000459003"	"01758"	"SLC7A7_000030"	"g.23245147T>A"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.22775938T>A"	""	"pathogenic"	"ACMG"
"0000248668"	"0"	"10"	"14"	"23282110"	"23282110"	"subst"	"0.566571"	"02325"	"SLC7A7_000060"	"g.23282110A>G"	""	""	""	"SLC7A7(NM_001126106.4):c.498T>C (p.I166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22812901A>G"	""	"benign"	""
"0000298358"	"0"	"10"	"14"	"23242828"	"23242828"	"subst"	"0.87702"	"02325"	"SLC7A7_000058"	"g.23242828T>C"	""	""	""	"SLC7A7(NM_001126106.4):c.1527A>G (p.K509=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22773619T>C"	""	"benign"	""
"0000298359"	"0"	"10"	"14"	"23282449"	"23282449"	"subst"	"0.617424"	"02325"	"SLC7A7_000061"	"g.23282449C>T"	""	""	""	"SLC7A7(NM_001126106.4):c.159G>A (p.S53=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22813240C>T"	""	"benign"	""
"0000308523"	"0"	"30"	"14"	"23243191"	"23243191"	"subst"	"0.00233939"	"01943"	"SLC7A7_000059"	"g.23243191G>C"	""	""	""	"SLC7A7(NM_001126106.2):c.1380C>G (p.I460M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22773982G>C"	""	"likely benign"	""
"0000337559"	"0"	"10"	"14"	"23245301"	"23245301"	"subst"	"0"	"02327"	"SLC7A7_000063"	"g.23245301T>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22776092T>C"	""	"benign"	""
"0000340818"	"0"	"10"	"14"	"23282110"	"23282110"	"subst"	"0.566571"	"02327"	"SLC7A7_000060"	"g.23282110A>G"	""	""	""	"SLC7A7(NM_001126106.4):c.498T>C (p.I166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22812901A>G"	""	"benign"	""
"0000340874"	"0"	"10"	"14"	"23242828"	"23242828"	"subst"	"0.87702"	"02327"	"SLC7A7_000058"	"g.23242828T>C"	""	""	""	"SLC7A7(NM_001126106.4):c.1527A>G (p.K509=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22773619T>C"	""	"benign"	""
"0000340967"	"0"	"10"	"14"	"23282449"	"23282449"	"subst"	"0.617424"	"02327"	"SLC7A7_000061"	"g.23282449C>T"	""	""	""	"SLC7A7(NM_001126106.4):c.159G>A (p.S53=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22813240C>T"	""	"benign"	""
"0000349679"	"0"	"50"	"14"	"23282245"	"23282245"	"subst"	"0"	"02327"	"SLC7A7_000065"	"g.23282245C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22813036C>A"	""	"VUS"	""
"0000349740"	"0"	"90"	"14"	"23248046"	"23248046"	"subst"	"8.12176E-6"	"02327"	"SLC7A7_000024"	"g.23248046C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.726G>A (p.W242*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.22778837C>T"	""	"pathogenic"	""
"0000551560"	"0"	"10"	"14"	"23242828"	"23242828"	"subst"	"0.87702"	"02330"	"SLC7A7_000058"	"g.23242828T>C"	""	""	""	"SLC7A7(NM_001126106.4):c.1527A>G (p.K509=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22773619T>C"	""	"benign"	""
"0000551561"	"0"	"70"	"14"	"23243154"	"23243154"	"subst"	"1.62483E-5"	"02327"	"SLC7A7_000049"	"g.23243154G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.1417C>T (p.R473*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22773945G>A"	""	"likely pathogenic"	""
"0000551562"	"0"	"90"	"14"	"23243580"	"23243580"	"subst"	"4.06388E-6"	"01943"	"SLC7A7_000041"	"g.23243580G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.1228C>T (p.R410*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22774371G>A"	""	"pathogenic"	""
"0000551564"	"0"	"30"	"14"	"23244749"	"23244749"	"subst"	"0.000426788"	"02325"	"SLC7A7_000066"	"g.23244749C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.999G>A (p.R333=), SLC7A7(NM_001126106.4):c.999G>A (p.R333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22775540C>T"	""	"likely benign"	""
"0000551566"	"0"	"10"	"14"	"23248112"	"23248112"	"subst"	"0.184224"	"02330"	"SLC7A7_000068"	"g.23248112A>G"	""	""	""	"SLC7A7(NM_001126106.4):c.660T>C (p.G220=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22778903A>G"	""	"benign"	""
"0000551567"	"0"	"10"	"14"	"23282110"	"23282110"	"subst"	"0.566571"	"02330"	"SLC7A7_000060"	"g.23282110A>G"	""	""	""	"SLC7A7(NM_001126106.4):c.498T>C (p.I166=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22812901A>G"	""	"benign"	""
"0000551568"	"0"	"10"	"14"	"23282152"	"23282152"	"subst"	"0.00832294"	"02330"	"SLC7A7_000069"	"g.23282152G>A"	""	""	""	"SLC7A7(NM_001126106.4):c.456C>T (p.F152=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22812943G>A"	""	"benign"	""
"0000551569"	"0"	"50"	"14"	"23282273"	"23282273"	"subst"	"0"	"02325"	"SLC7A7_000070"	"g.23282273C>T"	""	""	""	"SLC7A7(NM_001126106.4):c.335G>A (p.G112E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22813064C>T"	""	"VUS"	""
"0000551570"	"0"	"30"	"14"	"23282336"	"23282336"	"subst"	"0.0124523"	"02330"	"SLC7A7_000071"	"g.23282336G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.272C>T (p.A91V), SLC7A7(NM_001126106.4):c.272C>T (p.A91V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22813127G>A"	""	"likely benign"	""
"0000551571"	"0"	"50"	"14"	"23282336"	"23282336"	"subst"	"4.06273E-6"	"02325"	"SLC7A7_000072"	"g.23282336G>T"	""	""	""	"SLC7A7(NM_001126106.4):c.272C>A (p.A91E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22813127G>T"	""	"VUS"	""
"0000551572"	"0"	"50"	"14"	"23282339"	"23282339"	"subst"	"1.62484E-5"	"02327"	"SLC7A7_000073"	"g.23282339T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22813130T>A"	""	"VUS"	""
"0000551574"	"0"	"10"	"14"	"23282449"	"23282449"	"subst"	"0.617424"	"02330"	"SLC7A7_000061"	"g.23282449C>T"	""	""	""	"SLC7A7(NM_001126106.4):c.159G>A (p.S53=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22813240C>T"	""	"benign"	""
"0000551575"	"0"	"10"	"14"	"23282512"	"23282512"	"subst"	"0.0110528"	"02330"	"SLC7A7_000075"	"g.23282512C>T"	""	""	""	"SLC7A7(NM_001126106.4):c.96G>A (p.K32=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22813303C>T"	""	"benign"	""
"0000623100"	"0"	"70"	"14"	"23243154"	"23243154"	"subst"	"1.62483E-5"	"01943"	"SLC7A7_000049"	"g.23243154G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.1417C>T (p.R473*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22773945G>A"	""	"likely pathogenic"	""
"0000648834"	"1"	"50"	"14"	"23282133"	"23282133"	"subst"	"0.00011514"	"03575"	"SLC7A7_000076"	"g.23282133G>A"	"1/2793 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs11568437}"	"Germline"	""	"rs11568437"	"0"	""	""	"g.22812924G>A"	""	"VUS"	""
"0000648835"	"1"	"10"	"14"	"23282336"	"23282336"	"subst"	"0.0124523"	"03575"	"SLC7A7_000071"	"g.23282336G>A"	"7/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"7 heterozygous, no homozygous; {DB:CLININrs11568438}"	"Germline"	""	"rs11568438"	"0"	""	""	"g.22813127G>A"	""	"benign"	""
"0000648836"	"1"	"90"	"14"	"23282447"	"23282447"	"subst"	"0"	"03575"	"SLC7A7_000006"	"g.23282447C>A"	"15/2655 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"15 heterozygous, no homozygous; {DB:CLININrs121908677}"	"Germline"	""	"rs121908677"	"0"	""	""	"g.22813238C>A"	""	"pathogenic"	""
"0000657376"	"0"	"90"	"14"	"23245041"	"23245041"	"subst"	"0"	"02327"	"SLC7A7_000033"	"g.23245041C>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22775832C>A"	""	"pathogenic"	""
"0000657377"	"0"	"70"	"14"	"23248023"	"23248023"	"subst"	"0"	"02327"	"SLC7A7_000077"	"g.23248023T>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22778814T>A"	""	"likely pathogenic"	""
"0000657378"	"0"	"10"	"14"	"23249175"	"23249175"	"subst"	"3.24868E-5"	"02330"	"SLC7A7_000078"	"g.23249175C>T"	""	""	""	"SLC7A7(NM_001126106.4):c.585G>A (p.L195=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.22779966C>T"	""	"benign"	""
"0000679907"	"0"	"50"	"14"	"23244693"	"23244693"	"subst"	"0"	"01943"	"SLC7A7_000079"	"g.23244693T>C"	""	""	""	"SLC7A7(NM_001126106.2):c.1055A>G (p.H352R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691610"	"0"	"50"	"14"	"23243298"	"23243298"	"subst"	"0"	"01943"	"SLC7A7_000043"	"g.23243298A>G"	""	""	""	"SLC7A7(NM_001126106.2):c.1273T>C (p.C425R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000691611"	"0"	"30"	"14"	"23244749"	"23244749"	"subst"	"0.000426788"	"01943"	"SLC7A7_000066"	"g.23244749C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.999G>A (p.R333=), SLC7A7(NM_001126106.4):c.999G>A (p.R333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691612"	"0"	"30"	"14"	"23245398"	"23245398"	"subst"	"4.06091E-5"	"01943"	"SLC7A7_000080"	"g.23245398C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.894+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000691613"	"0"	"90"	"14"	"23248046"	"23248046"	"subst"	"8.12176E-6"	"01943"	"SLC7A7_000024"	"g.23248046C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.726G>A (p.W242*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000691614"	"0"	"10"	"14"	"23248112"	"23248112"	"subst"	"0.184224"	"02327"	"SLC7A7_000068"	"g.23248112A>G"	""	""	""	"SLC7A7(NM_001126106.4):c.660T>C (p.G220=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000691615"	"0"	"10"	"14"	"23282266"	"23282266"	"subst"	"1.63086E-5"	"02330"	"SLC7A7_000081"	"g.23282266G>A"	""	""	""	"SLC7A7(NM_001126106.4):c.342C>T (p.F114=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000724680"	"0"	"70"	"14"	"23243154"	"23243154"	"subst"	"1.62483E-5"	"02326"	"SLC7A7_000049"	"g.23243154G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.1417C>T (p.R473*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000724681"	"0"	"10"	"14"	"23243209"	"23243209"	"subst"	"1.21846E-5"	"02330"	"SLC7A7_000082"	"g.23243209C>G"	""	""	""	"SLC7A7(NM_001126106.4):c.1362G>C (p.L454=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000724682"	"0"	"30"	"14"	"23243250"	"23243250"	"subst"	"4.46806E-5"	"01943"	"SLC7A7_000083"	"g.23243250T>C"	""	""	""	"SLC7A7(NM_001126106.2):c.1321A>G (p.I441V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724683"	"0"	"90"	"14"	"23243622"	"23243625"	"del"	"0"	"02329"	"SLC7A7_000040"	"g.23243622_23243625del"	""	""	""	"SLC7A7(NM_001126106.4):c.1185_1188delTTCT (p.S396Lfs*122)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0000724684"	"0"	"30"	"14"	"23249241"	"23249241"	"subst"	"0"	"01943"	"SLC7A7_000084"	"g.23249241G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.519C>T (p.N173=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724685"	"0"	"30"	"14"	"23249280"	"23249280"	"subst"	"0.000475212"	"02326"	"SLC7A7_000085"	"g.23249280G>C"	""	""	""	"SLC7A7(NM_001126106.2):c.500-20C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000724686"	"0"	"50"	"14"	"23282249"	"23282249"	"subst"	"0"	"01943"	"SLC7A7_000086"	"g.23282249A>T"	""	""	""	"SLC7A7(NM_001126106.2):c.359T>A (p.L120H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000724687"	"0"	"70"	"14"	"23282435"	"23282435"	"subst"	"0"	"02329"	"SLC7A7_000074"	"g.23282435G>T"	""	""	""	"SLC7A7(NM_001126106.4):c.173C>A (p.S58Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000806301"	"0"	"30"	"14"	"23244749"	"23244749"	"subst"	"0.000426788"	"02326"	"SLC7A7_000066"	"g.23244749C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.999G>A (p.R333=), SLC7A7(NM_001126106.4):c.999G>A (p.R333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806302"	"0"	"30"	"14"	"23248052"	"23248052"	"subst"	"0.000710654"	"01943"	"SLC7A7_000087"	"g.23248052T>G"	""	""	""	"SLC7A7(NM_001126106.2):c.720A>C (p.S240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806303"	"0"	"30"	"14"	"23248052"	"23248052"	"subst"	"0.000710654"	"02326"	"SLC7A7_000087"	"g.23248052T>G"	""	""	""	"SLC7A7(NM_001126106.2):c.720A>C (p.S240=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806304"	"0"	"30"	"14"	"23249244"	"23249244"	"subst"	"4.06075E-6"	"01943"	"SLC7A7_000088"	"g.23249244A>G"	""	""	""	"SLC7A7(NM_001126106.2):c.516T>C (p.I172=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853738"	"0"	"30"	"14"	"23243191"	"23243191"	"subst"	"0.00233939"	"02326"	"SLC7A7_000059"	"g.23243191G>C"	""	""	""	"SLC7A7(NM_001126106.2):c.1380C>G (p.I460M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853739"	"0"	"50"	"14"	"23243680"	"23243680"	"subst"	"0.000203095"	"01943"	"SLC7A7_000090"	"g.23243680T>G"	""	""	""	"SLC7A7(NM_001126106.2):c.1128A>C (p.E376D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853740"	"0"	"30"	"14"	"23282336"	"23282336"	"subst"	"0.0124523"	"02326"	"SLC7A7_000071"	"g.23282336G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.272C>T (p.A91V), SLC7A7(NM_001126106.4):c.272C>T (p.A91V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000853741"	"0"	"10"	"14"	"23282374"	"23282374"	"subst"	"0.00112495"	"02330"	"SLC7A7_000091"	"g.23282374G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.234C>T (p.V78=), SLC7A7(NM_001126106.4):c.234C>T (p.V78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000863500"	"0"	"30"	"14"	"23243553"	"23243553"	"subst"	"0.000121905"	"01943"	"SLC7A7_000089"	"g.23243553G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.1245+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863501"	"0"	"30"	"14"	"23282374"	"23282374"	"subst"	"0.00112495"	"01943"	"SLC7A7_000091"	"g.23282374G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.234C>T (p.V78=), SLC7A7(NM_001126106.4):c.234C>T (p.V78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863502"	"0"	"30"	"14"	"23282524"	"23282524"	"subst"	"4.082E-6"	"01943"	"SLC7A7_000092"	"g.23282524C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.84G>A (p.P28=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891683"	"0"	"30"	"14"	"23245086"	"23245086"	"subst"	"0.000190882"	"02326"	"SLC7A7_000093"	"g.23245086T>A"	""	""	""	"SLC7A7(NM_001126106.2):c.954A>T (p.L318F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891684"	"0"	"30"	"14"	"23249140"	"23249140"	"subst"	"0"	"02326"	"SLC7A7_000094"	"g.23249140C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.620G>A (p.G207D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891685"	"0"	"30"	"14"	"23282358"	"23282358"	"subst"	"4.0618E-5"	"02326"	"SLC7A7_000095"	"g.23282358C>T"	""	""	""	"SLC7A7(NM_001126106.2):c.250G>A (p.V84I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891686"	"0"	"10"	"14"	"23282374"	"23282374"	"subst"	"0.00112495"	"02326"	"SLC7A7_000091"	"g.23282374G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.234C>T (p.V78=), SLC7A7(NM_001126106.4):c.234C>T (p.V78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000914154"	"0"	"30"	"14"	"23243345"	"23243349"	"del"	"0.000496028"	"02326"	"SLC7A7_000096"	"g.23243345_23243349del"	""	""	""	"SLC7A7(NM_001126106.2):c.1246-24_1246-20delCAGTT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000930275"	"0"	"30"	"14"	"23242933"	"23242933"	"subst"	"0"	"02326"	"SLC7A7_000097"	"g.23242933G>A"	""	""	""	"SLC7A7(NM_001126106.2):c.1430-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039872"	"0"	"30"	"14"	"23240238"	"23240238"	"subst"	"0.00261948"	"01804"	"SLC7A7_000098"	"g.23240238G>T"	""	""	""	"OXA1L(NM_005015.5):c.951G>T (p.(Met317Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001039873"	"0"	"50"	"14"	"23243573"	"23243573"	"subst"	"3.25076E-5"	"01804"	"SLC7A7_000099"	"g.23243573C>T"	""	""	""	"SLC7A7(NM_003982.4):c.1235G>A (p.(Arg412His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""


## Variants_On_Transcripts ## Do not remove or alter this header ##
## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene.
## Note: Only showing Variants_On_Transcript columns active for Genes SLC7A7
## Count = 121
"{{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}}"
"0000016678"	"00000287"	"99"	"-43"	"0"	"499"	"1"	"c.-43_499+1del"	"r.spl?"	"p.?"	"02c"
"0000016679"	"00000287"	"99"	"1"	"0"	"1"	"0"	"c.1A>C"	"r.(1a>c)"	"p.(Met1?)"	"03"
"0000016680"	"00000287"	"77"	"14"	"0"	"14"	"0"	"c.14C>T"	"r.(14c>u)"	"p.(Thr5Ile)"	"03"
"0000016681"	"00000287"	"99"	"106"	"0"	"108"	"0"	"c.106_108del"	"r.(?)"	"p.(Glu36del)"	"03"
"0000016682"	"00000287"	"99"	"149"	"0"	"149"	"0"	"c.149T>A"	"r.149u>a"	"p.(Met50Lys)"	"03"
"0000016683"	"00000287"	"99"	"161"	"0"	"161"	"0"	"c.161G>T"	"r.161g>u"	"p.(Gly54Val)"	"03"
"0000016684"	"00000287"	"77"	"371"	"0"	"371"	"0"	"c.371T>C"	"r.(370u>c)"	"p.(Leu124Pro)"	"03"
"0000016685"	"00000287"	"77"	"418"	"0"	"418"	"0"	"c.418G>C"	"r.(418g>c)"	"p.(Ala140Pro)"	"03"
"0000016686"	"00000287"	"99"	"215"	"0"	"218"	"0"	"c.215_218del"	"r.(?)"	"p.(Ser72Trpfs*97)"	"03"
"0000016687"	"00000287"	"99"	"254"	"0"	"255"	"0"	"c.254_255del"	"r.254_255deluu"	"p.(Phe85Trpfs*13)"	"03"
"0000016688"	"00000287"	"99"	"454"	"0"	"454"	"0"	"c.454T>C"	"r.(454u>c)"	"p.(Phe152Leu)"	"03"
"0000016689"	"00000287"	"99"	"499"	"1"	"499"	"1"	"c.499+1G>A"	"r.-41_499del"	"p.?"	"i03"
"0000016690"	"00000287"	"99"	"500"	"-1"	"625"	"1"	"c.500-?_625+?del"	"r.500_625del"	"p.(Cys167*)"	"i03-i04"
"0000016692"	"00000287"	"99"	"500"	"-1"	"770"	"1"	"c.500-?_770+?del"	"r.500_770del"	"p.(Cys167*)"	"31_5i"
"0000016693"	"00000287"	"99"	"500"	"-4294"	"1908"	"1028"	"c.500-4294_1908+1028del"	"r.?"	"p.?"	"i03-"
"0000016694"	"00000287"	"99"	"545"	"0"	"545"	"0"	"c.545dup"	"r.(?)"	"p.(Val183Glyfs*9)"	"04"
"0000016695"	"00000287"	"99"	"563"	"0"	"563"	"0"	"c.563C>T"	"r.563c>u"	"p.(Thr188Ile)"	"04"
"0000016696"	"00000287"	"77"	"571"	"0"	"571"	"0"	"c.571A>G"	"r.(571a>g)"	"p.(Lys191Glu)"	"04"
"0000016697"	"00000287"	"99"	"622"	"0"	"622"	"0"	"c.622C>T"	"r.(622c>u)"	"p.(Gln208*)"	"04"
"0000016698"	"00000287"	"99"	"625"	"1"	"625"	"1"	"c.625+1G>A"	"r.500_625del"	"p.Cys167*"	"i04"
"0000016699"	"00000287"	"77"	"625"	"1"	"625"	"1"	"c.625+1G>C"	"r.spl?"	"p.?"	"i04"
"0000016700"	"00000287"	"77"	"713"	"0"	"713"	"0"	"c.713C>T"	"r.713c>u"	"p.(Ser238Phe)"	"05"
"0000016701"	"00000287"	"99"	"726"	"0"	"726"	"0"	"c.726G>A"	"r.(726g>a)"	"p.(Trp242*)"	"05"
"0000016702"	"00000287"	"77"	"753"	"0"	"753"	"0"	"c.753G>T"	"r.(753g>u)"	"p.(Glu251Asp)"	"05"
"0000016703"	"00000287"	"99"	"771"	"-848"	"1908"	"718"	"c.771-848_1908+718del4647"	"r.?"	"p.?"	"i05-"
"0000016704"	"00000287"	"77"	"782"	"0"	"782"	"0"	"c.782T>C"	"r.(782u>c)"	"p.(Leu261Pro)"	"06"
"0000016705"	"00000287"	"99"	"820"	"0"	"820"	"0"	"c.820dup"	"r.(?)"	"p.(Tyr274Leufs*21)"	"06"
"0000016706"	"00000287"	"77"	"894"	"1"	"894"	"1"	"c.894+1G>T"	"r.spl?"	"p.?"	"i06"
"0000016707"	"00000287"	"99"	"895"	"-2"	"895"	"-2"	"c.895-2A>T"	"r.895_904delacuuuugcag"	"p.Thr299Ilefs*10"	"i06"
"0000016708"	"00000287"	"77"	"895"	"-2"	"895"	"-2"	"c.895-2A>G"	"r.spl?"	"p.?"	"i06"
"0000016709"	"00000287"	"99"	"998"	"0"	"998"	"0"	"c.998G>T"	"r.[998g>a, 895_998del, 895_998del; 1096_1245del, 771_998del; 1096_1245del]"	"p.[Arg333Met, Thr299Alafs*13, Thr299Alafs*13, Asn258_Arg333del; Gly366_Lys415del]"	"07"
"0000016710"	"00000287"	"77"	"998"	"1"	"998"	"1"	"c.998+1G>T"	"r.spl?"	"p?"	"i07"
"0000016711"	"00000287"	"99"	"1001"	"0"	"1001"	"0"	"c.1001T>G"	"r.1001u>g"	"p.Leu334Arg"	"08"
"0000016712"	"00000287"	"99"	"1005"	"0"	"1008"	"0"	"c.1005_1008del"	"r.1005_1008delcuuu"	"p.Phe335Leufs*15"	"08"
"0000016713"	"00000287"	"77"	"1013"	"0"	"1013"	"0"	"c.1013G>A"	"r.1013g>a"	"p.(Gly338Asp)"	"09"
"0000016714"	"00000287"	"77"	"1093"	"0"	"1093"	"0"	"c.1093A>T"	"r.(1093a>u)"	"p.(Asn365Tyr)"	"09"
"0000016715"	"00000287"	"99"	"1147"	"0"	"1151"	"0"	"c.1147_1151dup"	"r.(1147_1151dupaacua)"	"p.(Tyr384*)"	"09"
"0000016716"	"00000287"	"99"	"1158"	"0"	"1158"	"0"	"c.1158C>A"	"r.(1158c>a)"	"p.(Ser386Arg)"	"09"
"0000016717"	"00000287"	"99"	"1185"	"0"	"1188"	"0"	"c.1185_1188del"	"r.(?)"	"p.(Ser396Leufs*122)"	"09"
"0000016718"	"00000287"	"99"	"1228"	"0"	"1228"	"0"	"c.1228C>T"	"r.1228c>u"	"p.(Arg410*)"	"09"
"0000016719"	"00000287"	"99"	"1262"	"0"	"1262"	"0"	"c.1262del"	"r.1262delc"	"p.(Pro421Argfs*98)"	"10"
"0000016720"	"00000287"	"77"	"1273"	"0"	"1273"	"0"	"c.1273T>C"	"r.(1273u>c)"	"p.(Cys425Arg)"	"10"
"0000016721"	"00000287"	"99"	"1344"	"0"	"1344"	"0"	"c.1344del"	"r.1344delc"	"p.(Ile449Leufs*70)"	"10"
"0000016722"	"00000287"	"99"	"1371"	"0"	"1371"	"0"	"c.1371C>A"	"r.1371c>a"	"p.(Tyr457*)"	"10"
"0000016723"	"00000287"	"99"	"1381"	"0"	"1384"	"0"	"c.1381_1384dup"	"r.1381_1384dupauca"	"p.Arg462Asnfs*7"	"10"
"0000016724"	"00000287"	"99"	"1387"	"0"	"1387"	"0"	"c.1387del"	"r.1387delg"	"p.(Val463Cysfs*56)"	"10"
"0000016725"	"00000287"	"99"	"1402"	"0"	"1402"	"0"	"c.1402C>T"	"r.(1402c>u)"	"p.(Arg468*)"	"10"
"0000016726"	"00000287"	"99"	"1417"	"0"	"1417"	"0"	"c.1417C>T"	"r.1421c>t"	"p.(Arg473*)"	"10"
"0000016727"	"00000287"	"99"	"1460"	"0"	"1460"	"0"	"c.1460del"	"r.1460delg"	"p.(Cys487Leufs*32)"	"11"
"0000016728"	"00000287"	"77"	"1465"	"0"	"1465"	"0"	"c.1465T>C"	"r.1465u>c"	"p.(Ser489Pro)"	"11"
"0000017959"	"00000287"	"77"	"158"	"0"	"158"	"0"	"c.158C>T"	"r.(158c>u)"	"p.(Ser53Leu)"	"03"
"0000020617"	"00000287"	"77"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(235g>a)"	"p.(Gly79Arg)"	"03"
"0000039752"	"00000287"	"75"	"220"	"0"	"222"	"0"	"c.220_222dup"	"r.(?)"	"p.(Val74dup)"	"03"
"0000039753"	"00000287"	"77"	"282"	"0"	"283"	"0"	"c.282_283insTGG"	"r.(?)"	"p.(Gly94_Thr95insTrp)"	"03"
"0000039754"	"00000287"	"77"	"346"	"0"	"349"	"0"	"c.346_349del"	"r.(?)"	"p.(Ala116Serfs*53)"	"03"
"0000039755"	"00000287"	"77"	"1098"	"0"	"1098"	"0"	"c.1098dup"	"r.(?)"	"p.(Ile367Tyrfs*17)"	"09"
"0000130264"	"00000287"	"90"	"895"	"-2"	"895"	"-2"	"c.895-2A>T"	"r.spl?"	"p.?"	""
"0000248668"	"00000287"	"10"	"498"	"0"	"498"	"0"	"c.498T>C"	"r.(?)"	"p.(Ile166=)"	""
"0000298358"	"00000287"	"10"	"1527"	"0"	"1527"	"0"	"c.1527A>G"	"r.(?)"	"p.(Lys509=)"	""
"0000298359"	"00000287"	"10"	"159"	"0"	"159"	"0"	"c.159G>A"	"r.(?)"	"p.(Ser53=)"	""
"0000308523"	"00000287"	"30"	"1380"	"0"	"1380"	"0"	"c.1380C>G"	"r.(?)"	"p.(Ile460Met)"	""
"0000337559"	"00000287"	"10"	"894"	"103"	"894"	"103"	"c.894+103A>G"	"r.(=)"	"p.(=)"	""
"0000340818"	"00000287"	"10"	"498"	"0"	"498"	"0"	"c.498T>C"	"r.(?)"	"p.(Ile166=)"	""
"0000340874"	"00000287"	"10"	"1527"	"0"	"1527"	"0"	"c.1527A>G"	"r.(?)"	"p.(Lys509=)"	""
"0000340967"	"00000287"	"10"	"159"	"0"	"159"	"0"	"c.159G>A"	"r.(?)"	"p.(Ser53=)"	""
"0000349679"	"00000287"	"50"	"363"	"0"	"363"	"0"	"c.363G>T"	"r.(?)"	"p.(Trp121Cys)"	""
"0000349740"	"00000287"	"90"	"726"	"0"	"726"	"0"	"c.726G>A"	"r.(?)"	"p.(Trp242Ter)"	""
"0000551560"	"00000287"	"10"	"1527"	"0"	"1527"	"0"	"c.1527A>G"	"r.(?)"	"p.(Lys509=)"	""
"0000551561"	"00000287"	"70"	"1417"	"0"	"1417"	"0"	"c.1417C>T"	"r.(?)"	"p.(Arg473Ter)"	""
"0000551562"	"00000287"	"90"	"1228"	"0"	"1228"	"0"	"c.1228C>T"	"r.(?)"	"p.(Arg410Ter)"	""
"0000551564"	"00000287"	"30"	"999"	"0"	"999"	"0"	"c.999G>A"	"r.(?)"	"p.(Arg333=)"	""
"0000551566"	"00000287"	"10"	"660"	"0"	"660"	"0"	"c.660T>C"	"r.(?)"	"p.(Gly220=)"	""
"0000551567"	"00000287"	"10"	"498"	"0"	"498"	"0"	"c.498T>C"	"r.(?)"	"p.(Ile166=)"	""
"0000551568"	"00000287"	"10"	"456"	"0"	"456"	"0"	"c.456C>T"	"r.(?)"	"p.(Phe152=)"	""
"0000551569"	"00000287"	"50"	"335"	"0"	"335"	"0"	"c.335G>A"	"r.(?)"	"p.(Gly112Glu)"	""
"0000551570"	"00000287"	"30"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Ala91Val)"	""
"0000551571"	"00000287"	"50"	"272"	"0"	"272"	"0"	"c.272C>A"	"r.(?)"	"p.(Ala91Glu)"	""
"0000551572"	"00000287"	"50"	"269"	"0"	"269"	"0"	"c.269A>T"	"r.(?)"	"p.(Tyr90Phe)"	""
"0000551574"	"00000287"	"10"	"159"	"0"	"159"	"0"	"c.159G>A"	"r.(?)"	"p.(Ser53=)"	""
"0000551575"	"00000287"	"10"	"96"	"0"	"96"	"0"	"c.96G>A"	"r.(?)"	"p.(Lys32=)"	""
"0000623100"	"00000287"	"70"	"1417"	"0"	"1417"	"0"	"c.1417C>T"	"r.(?)"	"p.(Arg473Ter)"	""
"0000648834"	"00000287"	"50"	"475"	"0"	"475"	"0"	"c.475C>T"	"r.(?)"	"p.(Arg159Cys)"	""
"0000648835"	"00000287"	"10"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Ala91Val)"	""
"0000648836"	"00000287"	"90"	"161"	"0"	"161"	"0"	"c.161G>T"	"r.(?)"	"p.(Gly54Val)"	""
"0000657376"	"00000287"	"90"	"998"	"1"	"998"	"1"	"c.998+1G>T"	"r.spl?"	"p.?"	""
"0000657377"	"00000287"	"70"	"749"	"0"	"749"	"0"	"c.749A>T"	"r.(?)"	"p.(Glu250Val)"	""
"0000657378"	"00000287"	"10"	"585"	"0"	"585"	"0"	"c.585G>A"	"r.(?)"	"p.(Leu195=)"	""
"0000679907"	"00000287"	"50"	"1055"	"0"	"1055"	"0"	"c.1055A>G"	"r.(?)"	"p.(His352Arg)"	""
"0000691610"	"00000287"	"50"	"1273"	"0"	"1273"	"0"	"c.1273T>C"	"r.(?)"	"p.(Cys425Arg)"	""
"0000691611"	"00000287"	"30"	"999"	"0"	"999"	"0"	"c.999G>A"	"r.(?)"	"p.(Arg333=)"	""
"0000691612"	"00000287"	"30"	"894"	"6"	"894"	"6"	"c.894+6G>A"	"r.(=)"	"p.(=)"	""
"0000691613"	"00000287"	"90"	"726"	"0"	"726"	"0"	"c.726G>A"	"r.(?)"	"p.(Trp242Ter)"	""
"0000691614"	"00000287"	"10"	"660"	"0"	"660"	"0"	"c.660T>C"	"r.(?)"	"p.(Gly220=)"	""
"0000691615"	"00000287"	"10"	"342"	"0"	"342"	"0"	"c.342C>T"	"r.(?)"	"p.(Phe114=)"	""
"0000724680"	"00000287"	"70"	"1417"	"0"	"1417"	"0"	"c.1417C>T"	"r.(?)"	"p.(Arg473Ter)"	""
"0000724681"	"00000287"	"10"	"1362"	"0"	"1362"	"0"	"c.1362G>C"	"r.(?)"	"p.(Leu454=)"	""
"0000724682"	"00000287"	"30"	"1321"	"0"	"1321"	"0"	"c.1321A>G"	"r.(?)"	"p.(Ile441Val)"	""
"0000724683"	"00000287"	"90"	"1185"	"0"	"1188"	"0"	"c.1185_1188del"	"r.(?)"	"p.(Ser396LeufsTer122)"	""
"0000724684"	"00000287"	"30"	"519"	"0"	"519"	"0"	"c.519C>T"	"r.(?)"	"p.(Asn173=)"	""
"0000724685"	"00000287"	"30"	"500"	"-20"	"500"	"-20"	"c.500-20C>G"	"r.(=)"	"p.(=)"	""
"0000724686"	"00000287"	"50"	"359"	"0"	"359"	"0"	"c.359T>A"	"r.(?)"	"p.(Leu120His)"	""
"0000724687"	"00000287"	"70"	"173"	"0"	"173"	"0"	"c.173C>A"	"r.(?)"	"p.(Ser58Tyr)"	""
"0000806301"	"00000287"	"30"	"999"	"0"	"999"	"0"	"c.999G>A"	"r.(?)"	"p.(Arg333=)"	""
"0000806302"	"00000287"	"30"	"720"	"0"	"720"	"0"	"c.720A>C"	"r.(?)"	"p.(Ser240=)"	""
"0000806303"	"00000287"	"30"	"720"	"0"	"720"	"0"	"c.720A>C"	"r.(?)"	"p.(Ser240=)"	""
"0000806304"	"00000287"	"30"	"516"	"0"	"516"	"0"	"c.516T>C"	"r.(?)"	"p.(Ile172=)"	""
"0000853738"	"00000287"	"30"	"1380"	"0"	"1380"	"0"	"c.1380C>G"	"r.(?)"	"p.(Ile460Met)"	""
"0000853739"	"00000287"	"50"	"1128"	"0"	"1128"	"0"	"c.1128A>C"	"r.(?)"	"p.(Glu376Asp)"	""
"0000853740"	"00000287"	"30"	"272"	"0"	"272"	"0"	"c.272C>T"	"r.(?)"	"p.(Ala91Val)"	""
"0000853741"	"00000287"	"10"	"234"	"0"	"234"	"0"	"c.234C>T"	"r.(?)"	"p.(Val78=)"	""
"0000863500"	"00000287"	"30"	"1245"	"10"	"1245"	"10"	"c.1245+10C>T"	"r.(=)"	"p.(=)"	""
"0000863501"	"00000287"	"30"	"234"	"0"	"234"	"0"	"c.234C>T"	"r.(?)"	"p.(Val78=)"	""
"0000863502"	"00000287"	"30"	"84"	"0"	"84"	"0"	"c.84G>A"	"r.(?)"	"p.(Pro28=)"	""
"0000891683"	"00000287"	"30"	"954"	"0"	"954"	"0"	"c.954A>T"	"r.(?)"	"p.(Leu318Phe)"	""
"0000891684"	"00000287"	"30"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.(?)"	"p.(Gly207Asp)"	""
"0000891685"	"00000287"	"30"	"250"	"0"	"250"	"0"	"c.250G>A"	"r.(?)"	"p.(Val84Ile)"	""
"0000891686"	"00000287"	"10"	"234"	"0"	"234"	"0"	"c.234C>T"	"r.(?)"	"p.(Val78=)"	""
"0000914154"	"00000287"	"30"	"1246"	"-24"	"1246"	"-20"	"c.1246-24_1246-20del"	"r.(=)"	"p.(=)"	""
"0000930275"	"00000287"	"30"	"1430"	"-8"	"1430"	"-8"	"c.1430-8C>T"	"r.(=)"	"p.(=)"	""
"0001039872"	"00000287"	"30"	"4117"	"0"	"4117"	"0"	"c.*2581C>A"	"r.(=)"	"p.(=)"	""
"0001039873"	"00000287"	"50"	"1235"	"0"	"1235"	"0"	"c.1235G>A"	"r.(?)"	"p.(Arg412His)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000081178"	"0000130264"
"0000292145"	"0000648834"
"0000292146"	"0000648835"
"0000292147"	"0000648836"