### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SLC38A8) # 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}}" "SLC38A8" "solute carrier family 38, member 8" "16" "q23.3" "unknown" "NC_000016.9" "UD_132378543657" "" "https://www.LOVD.nl/SLC38A8" "" "1" "32434" "146167" "615585" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/SLC38A8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2022-01-19 19:48:12" "00000" "2025-02-07 18:57:27" ## 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}}" "00019316" "SLC38A8" "solute carrier family 38, member 8" "001" "NM_001080442.1" "" "NP_001073911.1" "" "" "" "1" "1308" "1308" "84075762" "84043389" "" "0000-00-00 00:00:00" "" "" "00025685" "SLC38A8" "mRNA" "000" "NM_001080442.3" "" "NP_001073911.1" "" "" "" "-247" "1425" "1308" "84076400" "84043272" "00006" "2022-01-28 12:34:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00293" "FVH2" "hypoplasia, foveal, type 2, with or without optic nerve misrouting and/or anterior segment dysgenesis" "AR" "609218" "" "" "" "00006" "2013-12-24 22:31:42" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SLC38A8" "00293" ## Individuals ## Do not remove or alter this header ## ## Count = 76 "{{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}}" "00001640" "" "" "" "3" "" "00105" "{PMID:Perez 2014:24045842}" "2-generation family, 3 affected sisters" "F" "no" "Israel" "" "0" "" "" "Jewish;India" "FamP1" "00004130" "" "" "" "50" "" "00006" "{PMID:Perez 2014:24045842}" "50 controls" "" "-" "Israel" "" "0" "" "" "Jewish;India" "" "00155551" "" "" "" "2" "" "01243" "Sharon, submitted" "" "M" "no" "Israel" "" "0" "" "" "India;Jewish" "" "00309423" "" "" "" "1" "" "00004" "{PMID:Sharon 2019:31456290}" "1 IRD family" "" "" "Israel" "" "0" "" "" "" "" "00309424" "" "" "" "5" "" "00004" "{PMID:Sharon 2019:31456290}" "5 IRD families" "" "" "Israel" "" "0" "" "" "" "" "00333460" "" "" "" "1" "" "00000" "{PMID:Soens 2017:28714225}" "possible duplicate" "" "" "" "" "0" "" "" "" "3719" "00379746" "" "" "" "1" "" "03508" "" "" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_GH_0088" "00379801" "" "" "" "1" "" "03508" "" "" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "IR_GH_0162" "00399319" "" "" "" "1" "" "04246" "{PMID:Kuht 2020:32744312}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "F9:II-1" "00399328" "" "" "" "1" "" "04246" "{PMID:Kuht 2020:32744312}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "F8:II-1" "00399329" "" "" "" "1" "" "04246" "{PMID:Kuht 2020:32744312}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "" "F6:II-2" "00399330" "" "" "" "1" "" "04246" "{PMID:Kuht 2020:32744312}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea" "" "0" "" "" "" "F4:II-1" "00399350" "" "" "" "1" "" "04246" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "" "F2:II-1;Pat80" "00399351" "" "" "" "2" "" "04246" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "" "Korea" "" "0" "" "" "" "F1:II-1;Pat78" "00399353" "" "" "" "2" "" "00105" "{PMID:Perez 2014:24045842}" "2-generation family, affected brother/sister" "" "no" "Israel" "" "0" "" "" "Jewish;India" "FamP2" "00399354" "" "" "" "4" "" "00105" "{PMID:Perez 2014:24045842}" "2-generation family, affected father/2 sons/daughter" "" "no" "Israel" "" "0" "" "" "Jewish;India" "FamP3" "00399355" "" "" "" "5" "" "00006" "{PMID:Poulter 2013:24290379}" "4-generation family, 5 affected (3F, 2M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "Pakistan" "" "0" "" "" "" "F1" "00399356" "" "" "" "2" "" "00006" "{PMID:Poulter 2013:24290379}" "5-generation family, 2 affected sisters unaffected heterozygous carrier parents/relatives" "F" "yes" "Afghanistan" "" "0" "" "" "" "F2" "00399357" "" "" "" "1" "" "00006" "{PMID:Poulter 2013:24290379}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Netherlands" "" "0" "" "" "" "F3" "00399359" "" "" "" "1" "" "00006" "{PMID:Poulter 2013:24290379}" "4-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "F5" "00399360" "" "" "" "3" "" "00006" "{PMID:Poulter 2013:24290379}" "5-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives" "F;M" "yes" "India" "" "0" "" "" "" "F6" "00399361" "" "" "" "2" "" "00006" "{PMID:Poulter 2013:24290379}" "2-generation family, 2 affected sisters" "F" "" "" "" "0" "" "" "Europe-N" "F7" "00399362" "" "" "00399351" "1" "" "04246" "{PMID:Kuht 2020:32744312}" "brother" "M" "" "Korea" "" "0" "" "" "" "F1:II-2" "00399363" "" "" "" "1" "" "00006" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Korea" "" "0" "" "" "" "F3:II-1;Pat79" "00399364" "" "" "" "1" "" "00006" "{PMID:Kuht 2020:32744312}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "Turkey" "" "0" "" "" "" "F7:II-3" "00399365" "" "" "" "2" "" "00006" "{PMID:Kuht 2020:32744312}" "2-generation family, affected sister/brother, unaffected heterozygous carrier parents" "F" "no" "Korea" "" "0" "" "" "" "F5:II-1" "00399366" "" "" "00399365" "1" "" "00006" "{PMID:Kuht 2020:32744312}" "brother" "M" "no" "Korea" "" "0" "" "" "" "F5:II-2" "00399380" "" "" "" "1" "" "04246" "{PMID:Campbell 2019:31719542}" "no pedigree available for this proband" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Proband 2" "00399387" "" "" "" "2" "" "04246" "{PMID:Toral 2017:28546991}" "2 generation family, 3 offsprings, 2 affected/1 unaffected, unaffected heterozygous carrier parents" "F" "no" "(United States)" "" "0" "" "" "Ashkenazi Jew" "II:2" "00399394" "" "" "" "1" "" "04246" "{PMID:Weiner 2020:32032626}" "The only offspring in a 2 generation family, parents asymptomatic" "F" "no" "Israel" "" "0" "" "" "Jewish-India" "Fam5RP0057" "00399407" "" "" "" "1" "" "04246" "{PMID:Weiner 2020:32032626}" "2 generation family with one affected offspring and one unaffected" "F" "no" "Israel" "" "0" "" "" "Jewish-India" "Fam4NY0048" "00399408" "" "" "" "1" "" "04246" "{PMID:Lasseaux 2018:29345414}" "no pedigree data is available" "?" "" "" "" "" "" "" "white" "SLC38A8-P1" "00399411" "" "" "" "1" "" "04246" "{PMID:Lasseaux 2018:29345414}" "no pedigree data available" "?" "" "" "" "" "" "" "" "SLC38A8-P2" "00399468" "" "" "" "1" "" "04246" "{PMID:Lasseaux 2018:29345414}" "no pedigree data available" "?" "" "" "" "" "" "" "white" "SLC38A8-P3" "00399470" "" "" "" "1" "" "04246" "{PMID:Lasseaux 2018:29345414}" "no pedigree data available" "?" "" "" "" "" "" "" "white" "SLC38A8-P4" "00399472" "" "" "" "1" "" "04246" "{PMID:Poulter 2013:24290379}" "2 generation pedigree with one offspring affected and the other is asymptomatic." "F" "yes" "Pakistan" "" "" "" "" "" "F4 (II:I)" "00399514" "" "" "" "1" "" "04246" "{PMID:Schiff 2021:33498813}" "2 generation family with one affected and two unaffected offsprings" "M" "yes" "Bangladesh" "" "0" "" "" "" "1-1" "00399515" "" "" "" "2" "" "04246" "{PMID:Schiff 2021:33498813}" "2 generation family with 2 affected offsprings and 3 unaffected." "M" "yes" "India" "" "" "" "" "" "2-2" "00399516" "" "" "" "1" "" "04246" "{PMID:Schiff 2021:33498813}" "no pedigree data available" "F" "" "Pakistan" "" "" "" "" "" "3-1" "00399518" "" "" "" "1" "" "04246" "{PMID:Schiff 2021:33498813}" "2 generation family with 3 offsprings of whom one is affected" "F" "yes" "Sri Lanka" "" "" "" "" "" "4-1" "00399535" "" "" "" "2" "" "04246" "{PMID:Schiff 2021:33498813}" "2 generation family with two affected offsprings" "F" "no" "United Kingdom (Great Britain)" "" "" "" "" "" "5-1" "00399536" "" "" "" "1" "" "04246" "{PMID:Schiff 2021:33498813}" "2 generation family with 3 offsprings in total (from 2 wives). Only one child is affected." "F" "no" "United Kingdom (Great Britain)" "" "" "" "" "spanish and british ancestry" "6-1" "00399537" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021:33594928}" "no pedigree data available" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat1" "00399538" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "no pedigree data available" "F" "" "Israel" "" "0" "" "" "Jewish-India" "Pat4" "00399541" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021:33594928}" "no pedigree data available" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat9" "00400055" "" "" "" "2" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "no pedigree data available however grandfather is also affected." "M" "" "Georgia" "" "0" "" "" "Jewish-Ashkenazi" "Pat14" "00400056" "" "" "" "3" "" "00006" "{PMID:Weiner 2020:32032626}" "2-generation family, 3 affected (2F, M), unaffected heterozygous carrier relatives" "F;M" "" "Israel" "" "0" "" "" "Jewish-Karait" "Fam1" "00400071" "" "" "" "2" "" "00006" "{PMID:Weiner 2020:32032626}" "2-generation family, 2 affected brothers, unaffected parents" "M" "" "Israel" "" "0" "" "" "Jewish-India" "Fam3" "00400072" "" "" "" "1" "" "00006" "{PMID:Weiner 2020:32032626}" "2-generation family, 1 affected, unaffected heterozygous carrier relatives" "M" "" "Israel" "" "0" "" "" "Jewish-Karait" "Fam2" "00400073" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "no pedigree data available" "F" "" "Israel" "" "0" "" "" "French-Canadian;Puerto Rican" "Pat8" "00400074" "" "" "" "2" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "no pedigree data available however has an affected brother" "M" "" "Algeria;Iran;Turkey" "" "0" "" "" "Jewish" "Pat12" "00400085" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021:33594928}" "no pedigree data available" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat2" "00401173" "" "" "00400074" "1" "" "00006" "{PMID:Ehrenberg 2021: 33594928}" "brother" "M" "" "Algeria;Iran;Turkey" "" "0" "" "" "Jewish" "Pat11" "00401175" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Israel" "" "0" "" "" "Jewish-India" "Pat3" "00401176" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat5" "00401177" "" "" "" "2" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "family, 2 affected sibs" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "FamPat6" "00401178" "" "" "00401177" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "sib" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "FamPat7" "00401179" "" "" "" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "" "F" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat10" "00401180" "" "" "00400055" "1" "" "00006" "{PMID:Ehrenberg 2021:33594928}" "grandfather" "M" "" "Israel" "" "0" "" "" "Jewish-Ashkenazi" "Pat13" "00401649" "" "" "" "2" "" "04246" "{PMID:Kruijt 2022: 35029636}" "no pedigree data is available however the proband has an affected sibling" "?" "?" "Netherlands" "" "0" "" "" "" "III-804" "00401650" "" "" "" "1" "" "04246" "{PMID:Kruijt 2022: 35029636}" "No pedigree data is available" "?" "" "Netherlands" "" "0" "" "" "" "V-808" "00401651" "" "" "" "1" "" "04246" "{PMID:Kruijt 2022: 35029636}" "no pedigree data available" "?" "" "" "" "0" "" "" "Swedish, Italian, Irish and English ancestry" "VIII-812" "00402309" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "No pedigree data available" "F" "" "Israel" "" "0" "" "" "Indian jew" "Pat 3" "00402310" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "No pedigree data avialble." "F" "" "Israel" "" "0" "" "" "Ashkenazi jew" "Pat5" "00402312" "" "" "" "2" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "No pedigree data available however the proband has an affected sibling" "F" "" "Israel" "" "0" "" "" "Ashkenazi jew" "Pat6" "00402313" "" "" "" "1" "" "04246" "{PMID:Ehrenberg 2021: 33594928}" "No pedigree data available" "F" "" "Israel" "" "0" "" "" "Ashkenazi jew" "Pat10" "00402315" "" "" "" "2" "" "04246" "{PMID:Weiner 2020:32032626}" "2 generation family with 2 affected offsprings" "M" "no" "Israel" "" "0" "" "" "Indian jew" "FAM3NY0049" "00402317" "" "" "" "2" "" "04246" "{PMID:Weiner 2020:32032626}" "2 generation family with 4 offsprings of whom 2 are affected." "F" "no" "Israel" "" "0" "" "" "Karait Jewish" "FAM1NY0033" "00402318" "" "" "" "1" "" "04246" "{PMID:Weiner 2020:32032626}" "2 generation family with one affected and four unaffected offsprings" "M" "no" "Israel" "" "0" "" "" "Karait Jewish" "FAM2NY0036" "00402341" "" "" "" "1" "" "04246" "{PMID:Schiff 2021:33498813}" "no pedigree data available" "F" "" "" "" "0" "" "" "Ashkenazi jew" "7-1" "00402350" "" "" "" "1" "" "04246" "{PMID:Kuht 2020:32744312}" "2 generation family with 3 offsprings of whom 2 are unaffected and one is affected" "F" "yes" "Turkey" "" "0" "" "" "" "F7:II-3" "00405975" "" "" "" "1" "" "04246" "{PMID:Hayashi 2021: 34037952}" "2 family pedigree with 3 offsprings of whom 2 are asymptomatic and one is affected" "M" "yes" "Japan" "" "0" "" "" "" "JU0210" "00434221" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam56PatI" "00434222" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "M" "" "India" "" "0" "" "" "Asia" "Fam58PatI" "00434258" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "Pakistan" "" "0" "" "" "Asia" "Fam26350" "00434273" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "" "" "" "" "0" "" "" "Asia" "Fam26364" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 76 "{{individualid}}" "{{diseaseid}}" "00001640" "00293" "00004130" "00000" "00155551" "00293" "00309423" "04214" "00309424" "04214" "00333460" "04214" "00379746" "04214" "00379801" "04214" "00399319" "00293" "00399328" "00293" "00399329" "00293" "00399330" "00293" "00399350" "00293" "00399351" "00293" "00399353" "00293" "00399354" "00293" "00399355" "00293" "00399356" "00293" "00399357" "00293" "00399359" "00293" "00399360" "00293" "00399361" "00293" "00399362" "00293" "00399363" "00293" "00399364" "00293" "00399365" "00293" "00399366" "00293" "00399380" "00293" "00399387" "00293" "00399394" "00293" "00399407" "00293" "00399408" "00293" "00399411" "00293" "00399468" "00293" "00399470" "00293" "00399472" "00293" "00399514" "00293" "00399515" "00293" "00399516" "00293" "00399518" "00293" "00399535" "00293" "00399536" "00293" "00399537" "00293" "00399538" "00293" "00399541" "00293" "00400055" "00293" "00400056" "00293" "00400071" "00293" "00400072" "00293" "00400073" "00293" "00400074" "00293" "00400085" "00293" "00401173" "00293" "00401175" "00198" "00401176" "00198" "00401177" "00198" "00401178" "00198" "00401179" "00198" "00401180" "00198" "00401649" "00293" "00401650" "00293" "00401651" "00293" "00402309" "00293" "00402310" "00293" "00402312" "00293" "00402313" "00293" "00402315" "00293" "00402317" "00293" "00402318" "00293" "00402341" "00293" "00402350" "00293" "00405975" "00293" "00434221" "00198" "00434222" "00198" "00434258" "00198" "00434273" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00198, 00293, 04214 ## Count = 70 "{{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}}" "0000002899" "00293" "00001640" "00105" "Familial, autosomal recessive" "" "secondary nystagmus and low vision" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000128051" "00293" "00155551" "01243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Foveal hypoplasia" "" "0000234743" "04214" "00309423" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "foveal hypoplasia" "" "0000234744" "04214" "00309424" "00004" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "foveal hypoplasia" "" "0000251645" "04214" "00333460" "00000" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "Leber congenital amaurosis" "" "0000274274" "04214" "00379746" "03508" "Familial, autosomal recessive" "" "HP:0032037, HP:0000639, HP:0000007, HP:0007750" "" "" "" "" "" "" "" "" "" "SLC38A8 foveal hypoplasia" "" "0000274276" "04214" "00379801" "03508" "Familial, autosomal recessive" "" "HP:0030515, HP:0001123, HP:0000639, HP:0007750, HP:0007894" "" "" "" "" "" "" "" "" "" "SLC38A8 foveal hypoplasia" "" "0000292438" "05537" "00399319" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486)" "" "36y" "rs1161159416" "" "" "" "" "" "Foveal Hypoplasia 2" "Albinism" "" "0000292445" "05536" "00399328" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486)" "" "28y" "rs1161159416" "" "" "" "" "" "Foveal Hypoplasia 2" "ocular albinism" "" "0000292446" "01335" "00399329" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and strabismus (HP:0000486)" "" "27y" "" "rs1161159416" "" "" "" "" "Foveal Hypoplasia 2" "PAX6 related phenotype" "" "0000292447" "00293" "00399330" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551)." "" "06y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "Idiopathic infantile nystagmus" "" "0000292467" "00293" "00399350" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551)" "" "10y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "PAX6 related phenotype" "" "0000292468" "00293" "00399351" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and strabismus (HP:0000486)" "" "18y" "" "rs1161159416" "" "" "" "" "Foveal Hypoplasia 2" "PAX6 related phenotype" "" "0000292470" "00293" "00399353" "00105" "Familial, autosomal recessive" "" "secondary nystagmus and low vision" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000292471" "00293" "00399354" "00105" "Familial, autosomal recessive" "" "secondary nystagmus and low vision" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000292472" "00293" "00399357" "00006" "Familial, autosomal recessive" "" "see paper; ..., foveal hypoplasia, optic nerve misrouting, Kartagener syndrome" "" "" "" "" "" "" "" "" "FVH2" "foveal hypoplasia, Kartagener syndrome" "" "0000292473" "00293" "00399362" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and strabismus (HP:0000486)" "" "18y" "" "rs1161159416" "" "" "" "" "Foveal Hypoplasia 2" "PAX6 related phenotype" "" "0000292474" "00293" "00399363" "00006" "Familial, autosomal recessive" "" "foveal hypoplasia (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551)" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000292475" "00293" "00399364" "00006" "Familial, autosomal recessive" "" "foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000292476" "00293" "00399365" "00006" "Familial, autosomal recessive" "" "foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000292477" "00293" "00399366" "00006" "Familial, autosomal recessive" "" "foveal hypoplasia (HP:0007750), nystagmus (HP:0000639)" "" "" "" "" "" "" "" "" "FVH2" "" "" "0000292492" "00293" "00399380" "04246" "Familial, autosomal recessive" "" "ypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), posterior embryotoxon (HP:0000627) and Hypopigmentation of the fundus (HP:0007894)" "" "14y" "" "" "" "" "" "" "Foveal hypoplasia 2" "ocular albinism" "" "0000292498" "00293" "00399387" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), astigmatism (HP:0000483) and moderate hypermetropia (HP:0031729)" "" "32y" "" "" "" "" "" "" "Foveal Hypoplasia" "Albinism" "" "0000292505" "00293" "00399394" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639)." "" "02y" "" "" "" "" "" "" "" "" "" "0000292518" "00293" "00399407" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639), Hypopigmentation of the fundus (HP:0007894), Posterior embryotoxon (HP:0000627), Reduced visual acuity (HP:0007663) and Optic nerve misrouting (HP:0025551)" "" "74y" "" "" "" "" "" "" "Foveal hypoplasia 2" "" "" "0000292519" "00293" "00399408" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639) and Iris transillumination defect (HP:0012805)" "" "" "" "rs1161159416" "" "" "" "" "Foveal hypoplasia 2" "Albinism" "" "0000292521" "00293" "00399411" "04246" "Unknown" "" "Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639), Hypermetropia (HP:0000540) and Astigmatism (HP:0000483)" "" "" "" "" "" "" "" "" "" "" "" "0000292573" "00293" "00399468" "04246" "Familial, autosomal recessive" "" "ypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639),Hypermetropia (HP:0000540) and Astigmatism (HP:0000483)" "" "" "" "" "" "" "" "" "" "" "" "0000292574" "00293" "00399470" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639),Hypermetropia (HP:0000540), Astigmatism (HP:0000483), Reduced visual acuity (HP:0007663), Strabismus (HP:0000486) and Iris transillumination defect (HP:0012805)" "" "" "" "" "" "" "" "" "" "" "" "0000292577" "00293" "00399472" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750) and Reduced visual acuity (HP:0007663)" "" "" "" "" "" "" "" "" "" "" "" "0000292619" "00293" "00399514" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)" "" "03y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292620" "00293" "00399515" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), posterior embryotoxon (HP:0000627) and strabismus (HP:0000486)" "" "16y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292621" "00293" "00399516" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) & strabismus (HP:0000486)" "" "21y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292623" "00293" "00399518" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), posterior embryotoxon (HP:0000627) and cataracts (HP:0000518)" "" "39y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292640" "00293" "00399535" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and (HP:0012805) and strabismus (HP:0000486)." "" "05y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292641" "00293" "00399536" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), Shallow anterior chamber (HP:0000594) and strabismus (HP:0000486)" "" "36y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292642" "00293" "00399537" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)." "" "05y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000292643" "00293" "00399538" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639),strabismus (HP:0000486) and" "" "40y" "" "ummmamd@leeds.ac.uk" "" "" "" "" "Foveal Hypoplasia 2" "infantile nystagmus and foveal hypoplasia" "" "0000292646" "00293" "00399541" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), Nystagmus (HP:0000639), Reduced visual acuity (HP:0007663) and strabismus (HP:0000486)." "" "03y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "infantile nystagmus and foveal hypoplasia" "" "0000293096" "00293" "00400055" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)." "" "03y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000293097" "00293" "00400056" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000293112" "00293" "00400071" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000293113" "00293" "00400072" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "0000293114" "00293" "00400073" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and macrocephaly (HP:0000256)" "" "01y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000293115" "00293" "00400074" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), strabismus (HP:0000486) and nystagmus (HP:0000639)" "" "01y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000293126" "00293" "00400085" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639)." "" "02y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000294216" "00293" "00401173" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "02y" "" "" "" "" "" "" "FVH2" "" "" "0000294218" "00198" "00401175" "00006" "Familial, autosomal recessive" "28y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH2" "" "" "0000294219" "00198" "00401176" "00006" "Familial, autosomal recessive" "19y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH2" "" "" "0000294220" "00198" "00401177" "00006" "Familial, autosomal recessive" "12y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH2" "" "" "0000294221" "00198" "00401178" "00006" "Familial, autosomal recessive" "10y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH2" "" "" "0000294222" "00198" "00401179" "00006" "Familial, autosomal recessive" "8y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH2" "" "" "0000294223" "00198" "00401180" "00006" "Familial, autosomal recessive" "68y" "see paper; ..." "" "" "" "" "" "" "" "" "FVH2" "" "" "0000294421" "00293" "00401649" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and optic nerve misrouting (HP:0025551)" "" "" "" "" "" "" "" "" "Foveal hypoplasia 2" "" "" "0000294424" "00293" "00401650" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551)" "" "" "" "" "" "" "" "" "Foveal Hypoplasia" "" "" "0000294425" "00293" "00401651" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639)," "" "" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295071" "00293" "00402309" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)." "" "28y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295072" "00293" "00402310" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)." "" "19y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295074" "00293" "00402312" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)." "" "12y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295075" "00293" "00402313" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and strabismus (HP:0000486)." "" "08y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295077" "00293" "00402315" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639)" "" "01y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295079" "00293" "00402317" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663) and nystagmus (HP:0000639)" "" "06y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295080" "00293" "00402318" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639) and posterior embryotoxon (HP:0000627)" "" "50y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295103" "00293" "00402341" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551), iris transillumination defect (HP:0012805) and strabismus (HP:0000486)" "" "16y" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000295112" "00293" "00402350" "04246" "Familial, autosomal recessive" "" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), optic nerve misrouting (HP:0025551) and (HP:0012805) and strabismus (HP:0000486)." "" "13y" "" "" "" "" "" "" "foveal hypoplasia 2" "" "" "0000298473" "00293" "00405975" "04246" "Familial, autosomal recessive" "03y" "Hypoplasia of the fovea (HP:0007750), reduced visual acuity (HP:0007663), nystagmus (HP:0000639), Posterior embryotoxon (HP:0000627) & goniodysgenesis." "" "" "" "" "" "" "" "" "Foveal Hypoplasia 2" "" "" "0000324579" "00198" "00434221" "00006" "Familial, autosomal recessive" "2y" "ocular albinism; nystagmus; hypoplasia of the fovea" "" "" "" "" "" "" "" "" "FVH2" "ocular albinism" "" "0000324580" "00198" "00434222" "00006" "Familial, autosomal recessive" "2y" "ocular albinism; nystagmus; hypoplasia of the fovea; optic nerve misrouting" "" "" "" "" "" "" "" "" "FVH2" "ocular albinism" "" "0000324616" "00198" "00434258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FVH2" "nystagmus" "" "0000324631" "00198" "00434273" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "FVH2" "albinism" "" ## Screenings ## Do not remove or alter this header ## ## Count = 76 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000001441" "00001640" "1" "00105" "00105" "2013-08-01 12:36:57" "00006" "2013-12-29 22:53:17" "PCRdig;SEQ;SEQ-NG-I" "DNA" "" "" "0000004056" "00004130" "1" "00006" "00006" "2013-12-29 22:59:08" "" "" "PCRdig" "DNA" "" "" "0000156416" "00155551" "1" "01243" "01243" "2018-03-18 14:37:15" "" "" "SEQ" "DNA" "" "" "0000310568" "00309423" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000310569" "00309424" "1" "00004" "00006" "2020-08-28 13:59:40" "" "" "SEQ" "DNA" "" "" "0000334685" "00333460" "1" "00000" "00006" "2021-02-25 16:04:58" "" "" "SEQ" "DNA" "" "" "0000380947" "00379746" "1" "03508" "03508" "2021-08-09 03:49:15" "" "" "SEQ-NG-I" "DNA" "" "" "0000381004" "00379801" "1" "03508" "03508" "2021-08-10 06:14:59" "" "" "SEQ-NG-I" "DNA" "" "" "0000400562" "00399319" "1" "04246" "04246" "2022-01-19 13:14:57" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400571" "00399328" "1" "04246" "04246" "2022-01-19 15:18:32" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400572" "00399329" "1" "04246" "04246" "2022-01-19 15:47:51" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400573" "00399330" "1" "04246" "04246" "2022-01-19 16:18:38" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400593" "00399350" "1" "04246" "04246" "2022-01-19 16:47:45" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400594" "00399351" "1" "04246" "04246" "2022-01-19 17:11:11" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400596" "00399353" "1" "00105" "00105" "2013-08-01 12:36:57" "00006" "2013-12-29 22:53:17" "PCRdig;SEQ;SEQ-NG-I" "DNA" "" "" "0000400597" "00399354" "1" "00105" "00105" "2013-08-01 12:36:57" "00006" "2013-12-29 22:53:17" "PCRdig;SEQ;SEQ-NG-I" "DNA" "" "" "0000400598" "00399355" "1" "00006" "00006" "2022-01-19 20:34:26" "" "" "SEQ" "DNA" "" "" "0000400599" "00399356" "1" "00006" "00006" "2022-01-19 20:34:26" "" "" "SEQ" "DNA" "" "" "0000400600" "00399357" "1" "00006" "00006" "2022-01-19 20:34:26" "" "" "SEQ" "DNA" "" "" "0000400602" "00399359" "1" "00006" "00006" "2022-01-19 20:34:26" "" "" "SEQ" "DNA" "" "" "0000400603" "00399360" "1" "00006" "00006" "2022-01-19 20:34:26" "" "" "SEQ" "DNA" "" "" "0000400604" "00399361" "1" "00006" "00006" "2022-01-19 20:34:26" "" "" "SEQ" "DNA" "" "" "0000400605" "00399362" "1" "04246" "04246" "2022-01-19 17:11:11" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400606" "00399363" "1" "00006" "00006" "2022-01-19 21:52:58" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400607" "00399364" "1" "00006" "00006" "2022-01-19 22:00:38" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400608" "00399365" "1" "00006" "00006" "2022-01-19 22:05:08" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400609" "00399366" "1" "00006" "00006" "2022-01-19 22:05:08" "" "" "SEQ-NG" "DNA" "Cheek cells" "" "0000400628" "00399380" "1" "04246" "04246" "2022-01-20 13:03:05" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000400630" "00399387" "1" "04246" "04246" "2022-01-20 13:36:57" "" "" "SEQ-NG-I" "DNA" "" "" "0000400637" "00399394" "1" "04246" "04246" "2022-01-20 14:20:03" "" "" "SEQ-NG" "DNA" "" "" "0000400650" "00399407" "1" "04246" "04246" "2022-01-20 15:56:08" "" "" "SEQ-NG" "DNA" "" "" "0000400651" "00399408" "1" "04246" "04246" "2022-01-20 16:17:15" "" "" "SEQ-NG" "DNA" "" "" "0000400656" "00399411" "1" "04246" "04246" "2022-01-20 17:04:12" "" "" "SEQ-NG" "DNA" "" "" "0000400711" "00399468" "1" "04246" "04246" "2022-01-20 19:04:36" "" "" "SEQ-NG" "DNA" "" "" "0000400712" "00399470" "1" "04246" "04246" "2022-01-20 19:24:07" "" "" "SEQ-NG" "DNA" "" "" "0000400716" "00399472" "1" "04246" "04246" "2022-01-20 20:38:25" "" "" "SEQ" "DNA" "" "" "0000400757" "00399514" "1" "04246" "04246" "2022-01-21 12:31:10" "" "" "SEQ-NG" "DNA" "" "" "0000400758" "00399515" "1" "04246" "04246" "2022-01-21 12:40:07" "" "" "SEQ-NG" "DNA" "" "" "0000400759" "00399516" "1" "04246" "04246" "2022-01-21 12:46:09" "" "" "SEQ-NG" "DNA" "" "" "0000400761" "00399518" "1" "04246" "04246" "2022-01-21 12:57:11" "" "" "SEQ-NG" "DNA" "" "" "0000400778" "00399535" "1" "04246" "04246" "2022-01-21 14:12:59" "" "" "SEQ-NG" "DNA" "" "" "0000400779" "00399536" "1" "04246" "04246" "2022-01-21 14:22:38" "" "" "SEQ-NG" "DNA" "" "" "0000400780" "00399537" "1" "04246" "04246" "2022-01-21 15:04:42" "" "" "SEQ-NG" "DNA" "" "" "0000400781" "00399538" "1" "04246" "04246" "2022-01-21 15:23:19" "" "" "SEQ-NG" "DNA" "" "" "0000400790" "00399541" "1" "04246" "04246" "2022-01-21 15:59:30" "" "" "SEQ-NG" "DNA" "" "" "0000401298" "00400055" "1" "04246" "04246" "2022-01-24 12:22:55" "" "" "SEQ-NG" "DNA" "" "" "0000401313" "00400056" "1" "00006" "00006" "2022-01-24 12:26:17" "" "" "SEQ" "DNA" "" "" "0000401314" "00400071" "1" "00006" "00006" "2022-01-24 12:26:17" "" "" "SEQ" "DNA" "" "" "0000401315" "00400072" "1" "00006" "00006" "2022-01-24 12:26:17" "" "" "SEQ" "DNA" "" "" "0000401316" "00400073" "1" "04246" "04246" "2022-01-24 12:35:19" "" "" "SEQ-NG" "DNA" "" "" "0000401317" "00400074" "1" "04246" "04246" "2022-01-24 12:51:09" "" "" "SEQ-NG" "DNA" "" "" "0000401328" "00400085" "1" "04246" "04246" "2022-01-24 14:29:10" "" "" "SEQ-NG" "DNA" "" "" "0000402417" "00401173" "1" "00006" "00006" "2022-01-28 12:53:26" "" "" "SEQ-NG" "DNA" "" "" "0000402419" "00401175" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402420" "00401176" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402421" "00401177" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402422" "00401178" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402423" "00401179" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402424" "00401180" "1" "00006" "00006" "2022-01-28 14:50:52" "" "" "SEQ" "DNA" "" "" "0000402891" "00401649" "1" "04246" "04246" "2022-02-01 12:54:57" "" "" "SEQ-NG" "DNA" "" "" "0000402893" "00401650" "1" "04246" "04246" "2022-02-01 14:00:54" "" "" "SEQ-NG" "DNA" "" "" "0000402894" "00401651" "1" "04246" "04246" "2022-02-01 14:07:50" "" "" "SEQ-NG" "DNA" "" "" "0000403550" "00402309" "1" "04246" "04246" "2022-02-04 15:11:44" "" "" "SEQ-NG" "DNA" "" "" "0000403551" "00402310" "1" "04246" "04246" "2022-02-04 15:37:45" "" "" "SEQ-NG" "DNA" "" "" "0000403553" "00402312" "1" "04246" "04246" "2022-02-04 15:47:13" "" "" "SEQ-NG" "DNA" "" "" "0000403554" "00402313" "1" "04246" "04246" "2022-02-04 15:52:35" "" "" "SEQ-NG" "DNA" "" "" "0000403556" "00402315" "1" "04246" "04246" "2022-02-04 16:15:19" "" "" "SEQ-NG" "DNA" "" "" "0000403558" "00402317" "1" "04246" "04246" "2022-02-04 17:14:04" "" "" "SEQ-NG" "DNA" "" "" "0000403559" "00402318" "1" "04246" "04246" "2022-02-04 17:27:08" "" "" "SEQ-NG" "DNA" "" "" "0000403582" "00402341" "1" "04246" "04246" "2022-02-04 18:25:15" "" "" "SEQ-NG" "DNA" "" "" "0000403591" "00402350" "1" "04246" "04246" "2022-02-05 00:59:39" "" "" "SEQ-NG" "DNA" "" "" "0000407216" "00405975" "1" "04246" "04246" "2022-03-24 13:42:05" "" "" "SEQ-NG" "DNA" "" "" "0000435689" "00434221" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435690" "00434222" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435726" "00434258" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" "0000435741" "00434273" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "WGS" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 64 "{{screeningid}}" "{{geneid}}" "0000001441" "SLC38A8" "0000004056" "SLC38A8" "0000156416" "SLC38A8" "0000310568" "SLC38A8" "0000310569" "SLC38A8" "0000334685" "SLC38A8" "0000400562" "SLC38A8" "0000400571" "SLC38A8" "0000400572" "SLC38A8" "0000400573" "SLC38A8" "0000400593" "SLC38A8" "0000400594" "SLC38A8" "0000400596" "SLC38A8" "0000400597" "SLC38A8" "0000400598" "SLC38A8" "0000400599" "SLC38A8" "0000400600" "SLC38A8" "0000400602" "SLC38A8" "0000400603" "SLC38A8" "0000400604" "SLC38A8" "0000400605" "SLC38A8" "0000400606" "SLC38A8" "0000400607" "SLC38A8" "0000400608" "SLC38A8" "0000400609" "SLC38A8" "0000400628" "SLC38A8" "0000400630" "SLC38A8" "0000400637" "SLC38A8" "0000400650" "SLC38A8" "0000400651" "SLC38A8" "0000400656" "SLC38A8" "0000400711" "SLC38A8" "0000400712" "SLC38A8" "0000400716" "SLC38A8" "0000400757" "SLC38A8" "0000400758" "SLC38A8" "0000400759" "SLC38A8" "0000400761" "SLC38A8" "0000400778" "SLC38A8" "0000400779" "SLC38A8" "0000400780" "SLC38A8" "0000400781" "SLC38A8" "0000400790" "SLC38A8" "0000401298" "SLC38A8" "0000401313" "SLC38A8" "0000401314" "SLC38A8" "0000401315" "SLC38A8" "0000401316" "SLC38A8" "0000401317" "SLC38A8" "0000401328" "SLC38A8" "0000402417" "SLC38A8" "0000402891" "SLC38A8" "0000402893" "SLC38A8" "0000402894" "SLC38A8" "0000403550" "SLC38A8" "0000403551" "SLC38A8" "0000403553" "SLC38A8" "0000403554" "SLC38A8" "0000403556" "SLC38A8" "0000403558" "SLC38A8" "0000403559" "SLC38A8" "0000403582" "SLC38A8" "0000403591" "SLC38A8" "0000407216" "SLC38A8" ## 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 = 152 "{{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}}" "0000019238" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "00105" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Perez 2014:24045842}" "BtsCI-" "" "homozygosity mapping in 3 apparently unrelated families" "Germline" "yes" "" "0" "" "" "g.84042063A>C" "" "likely pathogenic (recessive)" "" "0000022962" "1" "75" "16" "84075668" "84075668" "subst" "0" "00006" "SLC38A8_000001" "g.84075668T>G" "5/100 chromosomes" "{PMID:Perez 2014:24045842}" "BtsCI-" "" "5 heterozygotes in 50 individuals\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "no" "" "0" "" "" "g.84042063A>C" "" "likely pathogenic" "" "0000295910" "0" "10" "16" "84043372" "84043372" "subst" "0.000407474" "02330" "SLC38A8_000020" "g.84043372C>T" "" "" "" "SLC38A8(NM_001080442.3):c.*17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84009767C>T" "" "benign" "" "0000295911" "0" "10" "16" "84050259" "84050259" "subst" "0.00384935" "02330" "SLC38A8_000005" "g.84050259C>G" "" "" "" "SLC38A8(NM_001080442.2):c.1027G>C (p.G343R), SLC38A8(NM_001080442.3):c.1027G>C (p.G343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016654C>G" "" "benign" "" "0000295912" "0" "10" "16" "84050212" "84050212" "subst" "0.00265044" "02330" "SLC38A8_000003" "g.84050212C>T" "" "" "" "SLC38A8(NM_001080442.2):c.1074G>A (p.T358=), SLC38A8(NM_001080442.3):c.1074G>A (p.T358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016607C>T" "" "benign" "" "0000295913" "0" "10" "16" "84050134" "84050134" "subst" "4.06749E-6" "02330" "SLC38A8_000002" "g.84050134G>A" "" "" "" "SLC38A8(NM_001080442.3):c.1152C>T (p.F384=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016529G>A" "" "benign" "" "0000295914" "0" "10" "16" "84075747" "84075747" "subst" "1.64306E-5" "02330" "SLC38A8_000019" "g.84075747G>A" "" "" "" "SLC38A8(NM_001080442.3):c.16C>T (p.P6S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84042142G>A" "" "benign" "" "0000295915" "0" "10" "16" "84070500" "84070500" "subst" "2.93494E-5" "02330" "SLC38A8_000017" "g.84070500C>T" "" "" "" "SLC38A8(NM_001080442.3):c.195G>A (p.S65=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84036895C>T" "" "benign" "" "0000295916" "0" "30" "16" "84075729" "84075729" "subst" "0" "02330" "SLC38A8_000018" "g.84075729G>T" "" "" "" "SLC38A8(NM_001080442.3):c.34C>A (p.P12T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84042124G>T" "" "likely benign" "" "0000295917" "0" "10" "16" "84070286" "84070286" "subst" "0.000507959" "02330" "SLC38A8_000016" "g.84070286G>A" "" "" "" "SLC38A8(NM_001080442.3):c.388+21C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84036681G>A" "" "benign" "" "0000295918" "0" "30" "16" "84067047" "84067047" "subst" "0.000128676" "02330" "SLC38A8_000015" "g.84067047G>A" "" "" "" "SLC38A8(NM_001080442.3):c.416C>T (p.P139L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84033442G>A" "" "likely benign" "" "0000295919" "0" "30" "16" "84067023" "84067023" "subst" "7.36769E-5" "02330" "SLC38A8_000013" "g.84067023G>A" "" "" "" "SLC38A8(NM_001080442.3):c.440C>T (p.A147V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84033418G>A" "" "likely benign" "" "0000295920" "0" "10" "16" "84066962" "84066962" "subst" "4.87718E-5" "02330" "SLC38A8_000011" "g.84066962C>T" "" "" "" "SLC38A8(NM_001080442.3):c.501G>A (p.P167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84033357C>T" "" "benign" "" "0000295921" "0" "30" "16" "84065530" "84065530" "subst" "0" "02330" "SLC38A8_000010" "g.84065530T>G" "" "" "" "SLC38A8(NM_001080442.2):c.574A>C (p.T192P), SLC38A8(NM_001080442.3):c.574A>C (p.T192P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84031925T>G" "" "likely benign" "" "0000295922" "0" "10" "16" "84065476" "84065476" "subst" "0.000707714" "02330" "SLC38A8_000009" "g.84065476G>C" "" "" "" "SLC38A8(NM_001080442.2):c.628C>G (p.L210V), SLC38A8(NM_001080442.3):c.628C>G (p.L210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84031871G>C" "" "benign" "" "0000295923" "0" "10" "16" "84056405" "84056405" "subst" "0.000304985" "02330" "SLC38A8_000007" "g.84056405G>A" "" "" "" "SLC38A8(NM_001080442.2):c.780C>T (p.A260=), SLC38A8(NM_001080442.3):c.780C>T (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84022800G>A" "" "benign" "" "0000295924" "0" "50" "16" "84050295" "84050295" "subst" "2.85875E-5" "02330" "SLC38A8_000006" "g.84050295C>A" "" "" "" "SLC38A8(NM_001080442.3):c.991G>T (p.G331W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016690C>A" "" "VUS" "" "0000308439" "0" "10" "16" "84050259" "84050259" "subst" "0.00384935" "01943" "SLC38A8_000005" "g.84050259C>G" "" "" "" "SLC38A8(NM_001080442.2):c.1027G>C (p.G343R), SLC38A8(NM_001080442.3):c.1027G>C (p.G343R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016654C>G" "" "benign" "" "0000308440" "0" "30" "16" "84050229" "84050229" "subst" "4.88739E-5" "01943" "SLC38A8_000004" "g.84050229G>A" "" "" "" "SLC38A8(NM_001080442.2):c.1057C>T (p.L353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016624G>A" "" "likely benign" "" "0000308441" "0" "30" "16" "84050212" "84050212" "subst" "0.00265044" "01943" "SLC38A8_000003" "g.84050212C>T" "" "" "" "SLC38A8(NM_001080442.2):c.1074G>A (p.T358=), SLC38A8(NM_001080442.3):c.1074G>A (p.T358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84016607C>T" "" "likely benign" "" "0000308442" "0" "30" "16" "84067024" "84067024" "subst" "1.22898E-5" "01943" "SLC38A8_000014" "g.84067024C>A" "" "" "" "SLC38A8(NM_001080442.2):c.439G>T (p.A147S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84033419C>A" "" "likely benign" "" "0000308443" "0" "30" "16" "84067015" "84067015" "subst" "8.56465E-5" "01943" "SLC38A8_000012" "g.84067015G>A" "" "" "" "SLC38A8(NM_001080442.2):c.448C>T (p.R150C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84033410G>A" "" "likely benign" "" "0000308444" "0" "10" "16" "84056442" "84056442" "subst" "0.00801532" "01943" "SLC38A8_000008" "g.84056442G>C" "" "" "" "SLC38A8(NM_001080442.2):c.743C>G (p.S248C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.84022837G>C" "" "benign" "" "0000358338" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "01243" "SLC38A8_000001" "g.84075668A>C" "" "Sharon, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.84042063A>C" "" "likely pathogenic" "" "0000559353" "0" "30" "16" "84043392" "84043392" "subst" "0.000521287" "01943" "SLC38A8_000021" "g.84043392G>C" "" "" "" "SLC38A8(NM_001080442.2):c.1305C>G (p.F435L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84009787G>C" "" "likely benign" "" "0000559354" "0" "50" "16" "84043408" "84043408" "subst" "0.000109859" "02330" "SLC38A8_000022" "g.84043408G>T" "" "" "" "SLC38A8(NM_001080442.3):c.1289C>A (p.A430E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84009803G>T" "" "VUS" "" "0000559355" "0" "50" "16" "84043443" "84043443" "subst" "0" "01943" "SLC38A8_000023" "g.84043443G>T" "" "" "" "SLC38A8(NM_001080442.2):c.1254C>A (p.V418=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84009838G>T" "" "VUS" "" "0000559356" "0" "50" "16" "84046615" "84046615" "subst" "0.000523917" "01943" "SLC38A8_000024" "g.84046615G>A" "" "" "" "SLC38A8(NM_001080442.2):c.1205C>T (p.P402L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84013010G>A" "" "VUS" "" "0000559357" "0" "50" "16" "84046628" "84046628" "subst" "4.06141E-6" "01943" "SLC38A8_000025" "g.84046628C>T" "" "" "" "SLC38A8(NM_001080442.2):c.1192G>A (p.E398K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84013023C>T" "" "VUS" "" "0000559358" "0" "30" "16" "84050173" "84050173" "subst" "0.000492014" "01943" "SLC38A8_000026" "g.84050173G>A" "" "" "" "SLC38A8(NM_001080442.2):c.1113C>T (p.I371=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84016568G>A" "" "likely benign" "" "0000559359" "0" "30" "16" "84050336" "84050336" "subst" "0.00054839" "01943" "SLC38A8_000027" "g.84050336G>A" "" "" "" "SLC38A8(NM_001080442.2):c.954-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84016731G>A" "" "likely benign" "" "0000559360" "0" "50" "16" "84050803" "84050803" "subst" "4.06078E-5" "02330" "SLC38A8_000028" "g.84050803G>A" "" "" "" "SLC38A8(NM_001080442.3):c.895C>T (p.R299W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84017198G>A" "" "VUS" "" "0000559361" "0" "30" "16" "84065476" "84065476" "subst" "0.000707714" "01943" "SLC38A8_000009" "g.84065476G>C" "" "" "" "SLC38A8(NM_001080442.2):c.628C>G (p.L210V), SLC38A8(NM_001080442.3):c.628C>G (p.L210V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84031871G>C" "" "likely benign" "" "0000559362" "0" "10" "16" "84065492" "84065492" "subst" "4.06547E-6" "02330" "SLC38A8_000029" "g.84065492A>C" "" "" "" "SLC38A8(NM_001080442.3):c.612T>G (p.R204=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84031887A>C" "" "benign" "" "0000559363" "0" "50" "16" "84067032" "84067032" "subst" "1.64718E-5" "01943" "SLC38A8_000030" "g.84067032G>A" "" "" "" "SLC38A8(NM_001080442.2):c.431C>T (p.P144L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84033427G>A" "" "VUS" "" "0000559364" "0" "30" "16" "84075749" "84075749" "subst" "0.00087189" "02330" "SLC38A8_000031" "g.84075749G>A" "" "" "" "SLC38A8(NM_001080442.3):c.14C>T (p.T5I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84042144G>A" "" "likely benign" "" "0000616171" "0" "30" "16" "84043396" "84043396" "subst" "0" "01943" "SLC38A8_000032" "g.84043396A>G" "" "" "" "SLC38A8(NM_001080442.2):c.1301T>C (p.M434T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84009791A>G" "" "likely benign" "" "0000616172" "0" "30" "16" "84056457" "84056457" "subst" "3.73094E-5" "01943" "SLC38A8_000034" "g.84056457C>T" "" "" "" "SLC38A8(NM_001080442.2):c.728G>A (p.R243H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84022852C>T" "" "likely benign" "" "0000623545" "0" "90" "16" "84050744" "84050744" "subst" "4.0657E-6" "01943" "SLC38A8_000033" "g.84050744C>G" "" "" "" "SLC38A8(NM_001080442.2):c.953+1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.84017139C>G" "" "pathogenic" "" "0000685479" "0" "90" "16" "84066972" "84066973" "del" "0" "00004" "SLC38A8_000035" "g.84066972_84066973del" "1/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "c.490_491delCT" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000685480" "0" "90" "16" "84075668" "84075668" "subst" "4.06412E-6" "00004" "SLC38A8_000001" "g.84075668A>C" "5/2420 IRD families" "{PMID:Sharon 2019:31456290}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000692162" "0" "90" "16" "84050288" "84050288" "del" "0" "02330" "SLC38A8_000036" "g.84050288del" "" "" "" "SLC38A8(NM_001080442.3):c.1002delG (p.S336Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000726000" "0" "50" "16" "84065530" "84065530" "subst" "0" "01943" "SLC38A8_000010" "g.84065530T>G" "" "" "" "SLC38A8(NM_001080442.2):c.574A>C (p.T192P), SLC38A8(NM_001080442.3):c.574A>C (p.T192P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000732665" "3" "70" "16" "84070302" "84070302" "subst" "1.6288E-5" "00000" "SLC38A8_000037" "g.84070302C>T" "" "{PMID:Soens 2017:28714225}" "" "" "effect on splicing predicted from mini-gene splicing assay" "Germline" "" "" "0" "" "" "g.84036697C>T" "" "likely pathogenic" "" "0000794189" "0" "70" "16" "84056490" "84056490" "subst" "4.34273E-6" "03508" "SLC38A8_000038" "g.84056490T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACGS" "0000794190" "0" "70" "16" "84063107" "84063107" "subst" "2.03122E-5" "03508" "SLC38A8_000039" "g.84063107C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794268" "0" "70" "16" "84063107" "84063107" "subst" "2.03122E-5" "03508" "SLC38A8_000039" "g.84063107C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794269" "0" "70" "16" "84063145" "84063145" "subst" "4.06289E-5" "03508" "SLC38A8_000040" "g.84063145C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000794270" "0" "70" "16" "84046657" "84046657" "subst" "0" "03508" "SLC38A8_000041" "g.84046657C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "VUS" "ACMG" "0000807622" "0" "30" "16" "84050254" "84050254" "subst" "0" "02330" "SLC38A8_000042" "g.84050254C>T" "" "" "" "SLC38A8(NM_001080442.3):c.1032G>A (p.L344=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000807623" "0" "50" "16" "84050776" "84050776" "subst" "0.00048731" "01943" "SLC38A8_000043" "g.84050776T>C" "" "" "" "SLC38A8(NM_001080442.2):c.922A>G (p.T308A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000807624" "0" "30" "16" "84056405" "84056405" "subst" "0.000304985" "01943" "SLC38A8_000007" "g.84056405G>A" "" "" "" "SLC38A8(NM_001080442.2):c.780C>T (p.A260=), SLC38A8(NM_001080442.3):c.780C>T (p.A260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000833487" "11" "70" "16" "84050160" "84050160" "subst" "4.06567E-6" "04246" "SLC38A8_000050" "g.84050160C>T" "" "{PMID:Kuht 2020:32744312}" "" "" "ACMG PS4, PP3, PM3 & PP4" "Germline" "yes" "rs774038975" "0" "" "" "g.84016555C>T" "" "likely pathogenic (recessive)" "ACMG" "0000833496" "3" "70" "16" "84065470" "84065470" "subst" "4.06868E-6" "04246" "SLC38A8_000052" "g.84065470A>C" "" "{PMID:Kuht 2020: 32744312}" "1" "" "ACMG PS4, PP3" "Germline" "yes" "rs1161159416" "0" "" "" "g.84031865A>C" "" "likely pathogenic (recessive)" "ACMG" "0000833497" "1" "90" "16" "84050333" "84050333" "subst" "0" "04246" "SLC38A8_000053" "g.84050333C>G" "" "{PMID:Kuht 2020: 32744312}" "" "" "ACMG PM2, PP3, PP4 & PM3" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833498" "2" "90" "16" "84050296" "84050296" "dup" "0" "04246" "SLC38A8_000054" "g.84050296dup" "" "{PMID:Kuht 2020:32744312}" "" "995dupG" "ACMG PVS1, PP4 & PS4" "Germline" "" "rs752163032" "0" "" "" "g.84016691dup" "" "pathogenic (recessive)" "ACMG" "0000833499" "21" "70" "16" "84050843" "84050843" "subst" "0" "04246" "SLC38A8_000055" "g.84050843C>G" "" "{PMID:Kuht 2020:32744312}" "" "" "ACMG PM2, PP3, PP4 & PM3" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833500" "11" "90" "16" "84050296" "84050296" "dup" "0" "04246" "SLC38A8_000054" "g.84050296dup" "" "{PMID:Kuht 2020:32744312}" "" "995dupG" "ACMG PVS1, PP4 & PS4" "Germline" "yes" "rs752163032" "0" "" "" "g.84016691dup" "" "pathogenic" "ACMG" "0000833523" "21" "90" "16" "84065546" "84065546" "subst" "0" "04246" "SLC38A8_000057" "g.84065546G>T" "" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "" "c.558C > A:p.(Tyr186*)" "ACMG PVS1, PM2, PP4 & PM3" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833524" "11" "90" "16" "84050185" "84050211" "del" "0" "04246" "SLC38A8_000056" "g.84050185_84050211del" "" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "" "c.1078_1104del:p.(Ala360_Leu368del)" "ACMG PVS1, PM2 & PP4" "Germline" "yes" "" "0" "" "" "g.84016580_84016606del" "" "pathogenic (recessive)" "ACMG" "0000833525" "11" "90" "16" "84056493" "84056493" "subst" "0" "04246" "SLC38A8_000059" "g.84056493C>T" "" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "" "" "ACMG PS4, PP3, PP4 & PM3" "Germline" "yes" "rs776162300" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833526" "21" "90" "16" "84050322" "84050322" "subst" "8.20789E-6" "04246" "SLC38A8_000058" "g.84050322G>A" "" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "" "" "ACMG PVS1, PS4 & PP4" "Germline" "yes" "rs763713707" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833528" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "00105" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Perez 2014:24045842}" "BtsCI-" "" "" "Germline" "yes" "" "0" "" "" "g.84042063A>C" "" "likely pathogenic (recessive)" "" "0000833529" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "00105" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Perez 2014:24045842}" "BtsCI-" "" "" "Germline" "yes" "" "0" "" "" "g.84042063A>C" "" "likely pathogenic (recessive)" "" "0000833530" "3" "90" "16" "84056478" "84056478" "subst" "0" "00006" "SLC38A8_000044" "g.84056478A>T" "" "{PMID:Poulter 2013:24290379}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833531" "3" "90" "16" "84050288" "84050288" "del" "0" "00006" "SLC38A8_000036" "g.84050288del" "" "{PMID:Poulter 2013:24290379}" "" "1002delG" "" "Germline" "yes" "" "0" "" "" "g.84016683del" "" "pathogenic (recessive)" "" "0000833532" "21" "90" "16" "84043463" "84043463" "subst" "0" "00006" "SLC38A8_000045" "g.84043463C>T" "" "{PMID:Poulter 2013:24290379}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833533" "11" "90" "16" "84040000" "84220000" "del" "0" "00006" "SLC38A8_000000" "g.(?_84040000)_(84220000_?)del" "" "{PMID:Poulter 2013:24290379}" "" "large deletion" "large deletion, not specified; deletion may include DNAAF1 explaining Kartagener syndrome" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833535" "3" "90" "16" "84075662" "84075662" "subst" "0" "00006" "SLC38A8_000046" "g.84075662A>C" "" "{PMID:Poulter 2013:24290379}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833536" "3" "90" "16" "84056488" "84056488" "subst" "6.94215E-5" "00006" "SLC38A8_000047" "g.84056488C>T" "" "{PMID:Poulter 2013:24290379}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833537" "11" "90" "16" "84065506" "84065506" "subst" "1.21951E-5" "00006" "SLC38A8_000048" "g.84065506G>A" "" "{PMID:Poulter 2013:24290379}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000833538" "21" "90" "16" "84050854" "84050856" "del" "0" "00006" "SLC38A8_000049" "g.84050854_84050856del" "" "{PMID:Poulter 2013:24290379}" "" "845_847delCTG" "" "Germline" "yes" "" "0" "" "" "g.84017249_84017251del" "" "pathogenic (recessive)" "" "0000833539" "21" "90" "16" "84075573" "84075765" "del" "0" "00006" "SLC38A8_000051" "g.(84070506_84075573)_(84075765_?)del" "" "{PMID:Kuht 2020:32744312}" "" "del ex1" "" "Germline" "" "" "0" "" "" "g.(84036901_84041968)_(84042160_?)del" "" "pathogenic (recessive)" "" "0000833541" "11" "90" "16" "84056493" "84056493" "subst" "0" "04246" "SLC38A8_000059" "g.84056493C>T" "" "{PMID:Kuht 2020:32744312}" "" "" "ACMG PS4, PP3, PP4 & PM3" "Germline" "yes" "rs776162300" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833542" "21" "90" "16" "84050322" "84050322" "subst" "8.20789E-6" "04246" "SLC38A8_000058" "g.84050322G>A" "" "{PMID:Kuht 2020:32744312}" "" "" "ACMG PVS1, PS4 & PP4" "Germline" "yes" "rs763713707" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833543" "21" "70" "16" "84046601" "84046601" "subst" "0" "00006" "SLC38A8_000060" "g.84046601C>G" "" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833544" "11" "90" "16" "84050296" "84050296" "dup" "0" "00006" "SLC38A8_000054" "g.84050296dup" "" "{PMID:Kuht 2020:32744312}, {PMID:Moon 2021:35052368}" "" "995dupG" "ACMG PVS1, PP4 & PS4" "Germline" "yes" "rs752163032" "0" "" "" "g.84016691dup" "" "pathogenic (recessive)" "ACMG" "0000833546" "3" "70" "16" "84075662" "84075662" "subst" "0" "00006" "SLC38A8_000046" "g.84075662A>C" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833547" "21" "70" "16" "84056490" "84056490" "subst" "4.34273E-6" "00006" "SLC38A8_000038" "g.84056490T>C" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000833548" "2" "50" "16" "84063145" "84063145" "subst" "4.06289E-5" "00006" "SLC38A8_000040" "g.84063145C>A" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000833549" "2" "50" "16" "84063107" "84063107" "subst" "2.03122E-5" "00006" "SLC38A8_000039" "g.84063107C>T" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833551" "21" "70" "16" "84056490" "84056490" "subst" "4.34273E-6" "00006" "SLC38A8_000038" "g.84056490T>C" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000833552" "2" "50" "16" "84063145" "84063145" "subst" "4.06289E-5" "00006" "SLC38A8_000040" "g.84063145C>A" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000833553" "2" "50" "16" "84063107" "84063107" "subst" "2.03122E-5" "00006" "SLC38A8_000039" "g.84063107C>T" "" "{PMID:Kuht 2020:32744312}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000833584" "0" "70" "16" "84065570" "84065570" "subst" "1.62714E-5" "04246" "SLC38A8_000067" "g.84065570G>C" "" "{PMID:Campbell 2019:31719542}" "" "" "ACMG: PP3, PP4, PS4 & PM3." "Germline" "" "rs764152099" "0" "" "" "g.84031965G>C" "" "likely pathogenic (recessive)" "ACMG" "0000833587" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Toral 2017:28546991}" "" "" "ACMG PS4, PP3 & PP1" "Germline" "yes" "rs139373929" "0" "" "" "g.84017245T>G" "" "likely pathogenic (recessive)" "ACMG" "0000833594" "11" "90" "16" "84066972" "84066973" "del" "0" "04246" "SLC38A8_000069" "g.84066972_84066973del" "" "{PMID:Weiner 2020:32032626}" "" "c.490_491delCT : p.L164Vfs*41" "ACMG PVS1, PP4 & PM2" "Germline" "yes" "" "0" "" "" "g.84033367_84033368del" "" "pathogenic (recessive)" "ACMG" "0000833596" "20" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "" "ACMG PP3, PS4 & PM3" "Germline" "yes" "rs587777253" "0" "" "" "g.84042063A>C" "" "likely pathogenic (recessive)" "ACMG" "0000833613" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "" "ACMG PP3, PS4 & PP1" "Germline" "yes" "rs587777253" "0" "" "" "g.84042063A>C" "" "likely pathogenic (dominant)" "ACMG" "0000833614" "1" "70" "16" "84050776" "84050776" "subst" "0.00048731" "04246" "SLC38A8_000043" "g.84050776T>C" "" "{PMID:Lasseaux 2018:29345414}" "" "" "ACMG PS4, PM3 & PP3" "Germline" "yes" "rs142821762" "0" "" "" "g.84017171T>C" "" "pathogenic (recessive)" "ACMG" "0000833622" "21" "70" "16" "84066936" "84066936" "subst" "4.06501E-6" "04246" "SLC38A8_000068" "g.84066936G>C" "" "{PMID:Lasseaux 2018:29345414}" "" "" "ACMG PP3, PS4 & PM3" "Germline" "yes" "rs780336355" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833624" "11" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Lasseaux 2018:29345414}" "" "c.848A>C : p.Asp283Ala" "ACMG PM5, PS4 & PM3" "Germline" "yes" "rs139373929" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833683" "1" "70" "16" "84056488" "84056488" "subst" "6.94215E-5" "04246" "SLC38A8_000047" "g.84056488C>T" "" "{PMID:Lasseaux 2018:29345414}" "" "" "ACMG PP3, PS4 & PM3" "Germline" "?" "rs372929441" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833688" "1" "90" "16" "84075757" "84075760" "del" "0" "04246" "SLC38A8_000072" "g.84075757_84075760del" "" "{PMID:Lasseaux 2018:29345414}" "" "" "ACMG PVS1 & PM2" "Germline" "?" "" "0" "" "" "g.84042152_84042155del" "" "pathogenic (recessive)" "ACMG" "0000833689" "2" "70" "16" "84050775" "84050775" "subst" "0" "04246" "SLC38A8_000062" "g.84050775G>C" "" "{PMID:Lasseaux 2018:29345414}" "" "" "ACMG PM2, PM5 & PM3" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833693" "3" "90" "16" "84050259" "84050259" "del" "0" "04246" "SLC38A8_000061" "g.84050259del" "" "" "" "c.1029delG" "ACMG PVS1 & PS4" "Germline" "yes" "rs775821503" "0" "" "" "g.84016654del" "" "pathogenic (recessive)" "ACMG" "0000833739" "3" "90" "16" "84070431" "84070431" "subst" "3.2632E-5" "04246" "SLC38A8_000071" "g.84070431G>C" "" "{PMID:Schiff 2021:33498813}" "" "c.264C>G: p.(Tyr88*)" "ACMG PVS1, PS4, PP1, PP4 & PM3" "Germline" "yes" "rs761388176" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833740" "3" "90" "16" "84070431" "84070431" "subst" "3.2632E-5" "04246" "SLC38A8_000071" "g.84070431G>C" "" "{PMID:Schiff 2021:33498813}" "" "c.264C>G: p.(Tyr88*)" "ACMG PVS1, PS4, PP1, PP4 & PM3" "Germline" "yes" "rs761388176" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833741" "3" "90" "16" "84070431" "84070431" "subst" "3.2632E-5" "04246" "SLC38A8_000071" "g.84070431G>C" "" "{PMID:Schiff 2021:33498813}" "" "" "ACMG PVS1, PS4, PP1, PP4 & PM3" "Germline" "yes" "rs761388176" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833743" "3" "70" "16" "84056487" "84056487" "subst" "0" "04246" "SLC38A8_000064" "g.84056487T>C" "" "{PMID:Schiff 2021:33498813}" "" "c.698A>G : p.Glu233Gly" "ACMG PM2, PP3, PM3 & PP4" "Germline" "yes" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833762" "1" "90" "16" "84065471" "84065471" "subst" "0" "04246" "SLC38A8_000066" "g.84065471C>T" "" "{PMID:Schiff 2021:33498813}" "" "" "ACMG PM2, PVS1, PP1, PP4 & PM3" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833764" "2" "90" "16" "84067028" "84067028" "subst" "4.09843E-6" "04246" "SLC38A8_000070" "g.84067028C>T" "" "{PMID:Schiff 2021:33498813}" "" "" "ACMG PM2, PVS1, PP1 & PP4" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000833770" "1" "70" "16" "84050775" "84050775" "subst" "0" "04246" "SLC38A8_000062" "g.84050775G>C" "" "{PMID:Schiff 2021:33498813}" "" "" "ACMG PM3, PM2, PS1 & PP4" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833773" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021: 33594928}" "" "c.848A>C, p. Asp283Ala" "ACMG PS4, PP3 & PP1" "Germline" "" "rs139373929" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833774" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Ehrenberg 2021: 33594928}" "" "" "ACMG PP3, PS4 & PP1" "Germline" "?" "rs587777253" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000833788" "2" "70" "16" "84063113" "84063113" "subst" "0" "04246" "SLC38A8_000065" "g.84063113A>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "ACMG PM2, PP3 & PM3" "Germline" "?" "" "0" "" "" "" "" "VUS" "ACMG" "0000833789" "1" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "c.848A>C, p. Asp283Ala" "ACMG PS4 & PS1" "Germline" "?" "rs139373929" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000834491" "2" "70" "16" "84070426" "84070426" "subst" "6.93102E-5" "04246" "SLC38A8_000075" "g.84070426C>A" "" "{PMID:Ehrenberg 2021: 33594928}" "" "" "ACMG PS4, PP3 & PM3" "Germline" "yes" "rs768657069" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000834498" "3" "90" "16" "84075668" "84075668" "subst" "4.06412E-6" "00006" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84042063A>C" "" "pathogenic (recessive)" "" "0000834501" "1" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021: 33594928}" "" "" "ACMG PS4 & PS1" "Germline" "" "rs139373929" "0" "" "" "" "" "pathogenic" "ACMG" "0000834506" "3" "90" "16" "84075668" "84075668" "subst" "4.06412E-6" "00006" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84042063A>C" "" "pathogenic (recessive)" "" "0000834520" "3" "90" "16" "84075668" "84075668" "subst" "4.06412E-6" "00006" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "" "" "Germline" "yes" "" "0" "" "" "g.84042063A>C" "" "pathogenic (recessive)" "" "0000834521" "2" "90" "16" "84075603" "84075603" "subst" "0" "04246" "SLC38A8_000077" "g.84075603C>A" "" "{PMID:Ehrenberg 2021: 33594928}" "" "" "ACMG PVS1 & PS4" "Germline" "" "rs777138837" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000834522" "1" "70" "16" "84070302" "84070302" "subst" "1.6288E-5" "04246" "SLC38A8_000037" "g.84070302C>T" "" "{PMID:Ehrenberg 2021: 33594928}" "" "" "ACMG PS4, PP3 & PM3" "Germline" "" "rs760391436" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000834523" "3" "70" "16" "84056488" "84056488" "subst" "6.94215E-5" "04246" "SLC38A8_000047" "g.84056488C>T" "" "{PMID: Ehrenberg 2021: 33594928}" "" "" "ACMG PP3 & PM2" "Germline" "?" "rs37299441" "0" "" "" "" "" "VUS" "ACMG" "0000834525" "2" "90" "16" "84050744" "84050893" "del" "0" "00006" "SLC38A8_000073" "g.(84050333_84050744)_(84050893_84056379)del" "" "{PMID:Lasseaux 2018:29345414}" "" "del ex7" "" "Germline" "" "" "0" "" "" "g.(84016728_84017139)_(84017288_84022774)del" "" "pathogenic (recessive)" "" "0000834526" "2" "90" "16" "84050123" "84050893" "del" "0" "00006" "SLC38A8_000074" "g.(84046658_84050123)_(84050893_84056379)del" "" "{PMID:Lasseaux 2018:29345414}" "" "del ex7-8" "" "Germline" "" "" "0" "" "" "g.(84013053_84016518)_(84017288_84022774)del" "" "pathogenic (recessive)" "" "0000834548" "1" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "" "" "" "ACMG PS4, PS1 & PM3" "Germline" "" "rs139373929" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000836560" "2" "90" "16" "84043272" "84076009" "del" "0" "00006" "SLC38A8_000076" "g.(?_84043272)_(84076009_?)del" "" "{PMID:Ehrenberg 2021:33594928}" "" "whole gene deletion" "" "Germline" "" "" "0" "" "" "g.(?_84009667)_(84042404_?)del" "" "likely pathogenic (recessive)" "" "0000836561" "3" "70" "16" "84056488" "84056488" "subst" "6.94215E-5" "00006" "SLC38A8_000047" "g.84056488C>T" "" "{PMID: Ehrenberg 2021: 33594928}" "" "" "ACMG PP3 & PM2" "Germline" "?" "rs37299441" "0" "" "" "" "" "VUS" "ACMG" "0000836563" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "00006" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.84042063A>C" "" "likely pathogenic (recessive)" "" "0000836564" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "00006" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.84017245T>G" "" "likely pathogenic (recessive)" "" "0000836565" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "00006" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.84017245T>G" "" "likely pathogenic (recessive)" "" "0000836566" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "00006" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.84017245T>G" "" "likely pathogenic (recessive)" "" "0000836567" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "00006" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.84017245T>G" "" "likely pathogenic (recessive)" "" "0000836568" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "00006" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021:33594928}" "" "" "" "Germline" "" "" "0" "" "" "g.84017245T>G" "" "likely pathogenic (recessive)" "" "0000836589" "2" "90" "16" "84050123" "84050893" "del" "0" "00006" "SLC38A8_000074" "g.(84046658_84050123)_(84050893_84056379)del" "" "" "" "del ex7-8" "" "Germline" "" "" "0" "" "" "g.(84013053_84016518)_(84017288_84022774)del" "" "pathogenic (recessive)" "" "0000837173" "0" "70" "16" "84070435" "84070435" "subst" "0" "04246" "SLC38A8_000078" "g.84070435G>A" "" "{PMID:Kruijt 2022: 35029636}" "" "c.260C>T; p.(Thr87Ile)" "ACMG PM2, PP3, PP4 & PP1" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000837174" "0" "70" "16" "84056385" "84056385" "subst" "0" "04246" "SLC38A8_000079" "g.84056385A>C" "" "{PMID:Kruijt 2022: 35029636}" "" "c.800T>G; p.(Leu267Arg)" "ACMG PM2, PP3, PP4 & PP1" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000837176" "3" "90" "16" "84065506" "84065506" "subst" "1.21951E-5" "04246" "SLC38A8_000048" "g.84065506G>A" "" "{PMID:Kruijt 2022: 35029636}" "" "c.598C>T; p.(Gln200*)" "ACMG PVS1, PS4, PP4" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000837177" "0" "70" "16" "84043441" "84043441" "subst" "0" "04246" "SLC38A8_000080" "g.84043441C>A" "" "{PMID:Kruijt 2022: 35029636}" "" "c.1256G > T p.(Gly419Val)" "ACMG PM2, PP3, PM3" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000838983" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Ehrenberg 2021: 33594928}" "" "c.95T>G, p.Ile32Ser" "ACMG PP3, PS4 & PP1" "Germline" "?" "rs587777253" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000838984" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021: 33594928}" "" "c.848A>C, p. Asp283Ala" "ACMG PS4, PP3 & PP1" "Germline" "?" "rs139373929" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000838986" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021: 33594928}" "" "c.848A>C, p. Asp283Ala" "ACMG PS4, PP3 & PP1" "Germline" "?" "rs139373929" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000838988" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Ehrenberg 2021: 33594928}" "" "c.848A>C, p. Asp283Ala" "ACMG PS4, PP3 & PP1" "Germline" "" "rs139373929" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000838993" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "c.95T>G, p.Ile32Ser" "ACMG PP3, PS4 & PP1" "Germline" "yes" "rs587777253" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000838995" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "c.95T>G, p.Ile32Ser" "ACMG (PP3, PS4 & PP1" "Germline" "yes" "rs587777253" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000838996" "3" "70" "16" "84075668" "84075668" "subst" "4.06412E-6" "04246" "SLC38A8_000001" "g.84075668A>C" "" "{PMID:Weiner 2020:32032626}" "" "c.95T>G, p.Ile32Ser" "ACMG PP3, PS4 & PP1" "Germline" "yes" "rs587777253" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000839032" "3" "70" "16" "84050850" "84050850" "subst" "0.000288423" "04246" "SLC38A8_000063" "g.84050850T>G" "" "{PMID:Schiff 2021:33498813}" "" "c.848A>C, p.(Asp283Ala)" "ACMG PS4, PP3 & PP1" "Germline" "?" "rs139373929" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000839048" "0" "90" "16" "84063098" "84070506" "del" "0" "04246" "SLC38A8_000081" "g.(84056495_84063098)_(84070506_84075573)del" "" "{PMID:Campbell 2019:31719542}" "" "del ex2-5" "ACMG PVS1, PM2 & PP4" "Germline" "?" "" "0" "" "" "g.(84022890_84029493)_(84036901_84041968)del" "" "pathogenic (recessive)" "ACMG" "0000839051" "3" "70" "16" "84075662" "84075662" "subst" "0" "04246" "SLC38A8_000046" "g.84075662A>C" "" "{PMID:Kuht 2020:32744312}" "" "c.101T>G:p.Met34Arg" "ACMG PP3, PS4 & PP4" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000843737" "3" "90" "16" "84050291" "84050291" "dup" "0" "04246" "SLC38A8_000082" "g.84050291dupC" "" "{PMID:Hayashi 2021: 34037952}" "" "c.995dupG,p.Tr- p333MetfsTer35" "ACMG: PS4, PS1, PP1 & PM3" "Germline" "yes" "rs752163032" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000921862" "1" "90" "16" "84067028" "84067028" "subst" "4.09843E-6" "00006" "SLC38A8_000070" "g.84067028C>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.84033423C>T" "" "pathogenic (recessive)" "" "0000921863" "3" "90" "16" "84070431" "84070431" "subst" "3.2632E-5" "00006" "SLC38A8_000071" "g.84070431G>C" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.84036826G>C" "" "pathogenic (recessive)" "" "0000921899" "3" "90" "16" "84070431" "84070431" "subst" "3.2632E-5" "00006" "SLC38A8_000071" "g.84070431G>C" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.84036826G>C" "" "pathogenic (recessive)" "" "0000921914" "3" "90" "16" "84056487" "84056487" "subst" "0" "00006" "SLC38A8_000064" "g.84056487T>C" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.84022882T>C" "" "pathogenic (recessive)" "" "0000921933" "2" "90" "16" "84065471" "84065471" "subst" "0" "00006" "SLC38A8_000066" "g.84065471C>T" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.84031866C>T" "" "pathogenic (recessive)" "" "0000926354" "0" "90" "16" "84056488" "84056488" "subst" "8.67769E-6" "02327" "SLC38A8_000083" "g.84056488C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000926355" "0" "50" "16" "84066953" "84066953" "subst" "8.12817E-6" "02327" "SLC38A8_000084" "g.84066953G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930661" "0" "50" "16" "84066930" "84066930" "subst" "0" "02327" "SLC38A8_000085" "g.84066930T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000930662" "0" "50" "16" "84066954" "84066954" "subst" "0" "02327" "SLC38A8_000086" "g.84066954A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026763" "0" "50" "16" "84043391" "84043391" "subst" "0" "02327" "SLC38A8_000087" "g.84043391A>G" "" "" "" "" "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 SLC38A8 ## Count = 237 "{{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}}" "0000019238" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000019238" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "1" "0000022962" "00025685" "75" "95" "0" "95" "0" "c.95A>C" "r.(?)" "p.(Ile32Ser)" "" "0000022962" "00019316" "75" "95" "0" "95" "0" "c.95A>C" "r.(?)" "p.(Ile32Ser)" "1" "0000295910" "00019316" "10" "1325" "0" "1325" "0" "c.*17G>A" "r.(=)" "p.(=)" "" "0000295911" "00019316" "10" "1027" "0" "1027" "0" "c.1027G>C" "r.(?)" "p.(Gly343Arg)" "" "0000295912" "00019316" "10" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Thr358=)" "" "0000295913" "00019316" "10" "1152" "0" "1152" "0" "c.1152C>T" "r.(?)" "p.(Phe384=)" "" "0000295914" "00019316" "10" "16" "0" "16" "0" "c.16C>T" "r.(?)" "p.(Pro6Ser)" "" "0000295915" "00019316" "10" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Ser65=)" "" "0000295916" "00019316" "30" "34" "0" "34" "0" "c.34C>A" "r.(?)" "p.(Pro12Thr)" "" "0000295917" "00019316" "10" "388" "21" "388" "21" "c.388+21C>T" "r.(=)" "p.(=)" "" "0000295918" "00019316" "30" "416" "0" "416" "0" "c.416C>T" "r.(?)" "p.(Pro139Leu)" "" "0000295919" "00019316" "30" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Ala147Val)" "" "0000295920" "00019316" "10" "501" "0" "501" "0" "c.501G>A" "r.(?)" "p.(Pro167=)" "" "0000295921" "00019316" "30" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Thr192Pro)" "" "0000295922" "00019316" "10" "628" "0" "628" "0" "c.628C>G" "r.(?)" "p.(Leu210Val)" "" "0000295923" "00019316" "10" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ala260=)" "" "0000295924" "00019316" "50" "991" "0" "991" "0" "c.991G>T" "r.(?)" "p.(Gly331Trp)" "" "0000308439" "00019316" "10" "1027" "0" "1027" "0" "c.1027G>C" "r.(?)" "p.(Gly343Arg)" "" "0000308440" "00019316" "30" "1057" "0" "1057" "0" "c.1057C>T" "r.(?)" "p.(Leu353=)" "" "0000308441" "00019316" "30" "1074" "0" "1074" "0" "c.1074G>A" "r.(?)" "p.(Thr358=)" "" "0000308442" "00019316" "30" "439" "0" "439" "0" "c.439G>T" "r.(?)" "p.(Ala147Ser)" "" "0000308443" "00019316" "30" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" "" "0000308444" "00019316" "10" "743" "0" "743" "0" "c.743C>G" "r.(?)" "p.(Ser248Cys)" "" "0000358338" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000358338" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "1" "0000559353" "00019316" "30" "1305" "0" "1305" "0" "c.1305C>G" "r.(?)" "p.(Phe435Leu)" "" "0000559354" "00019316" "50" "1289" "0" "1289" "0" "c.1289C>A" "r.(?)" "p.(Ala430Glu)" "" "0000559355" "00019316" "50" "1254" "0" "1254" "0" "c.1254C>A" "r.(?)" "p.(Val418=)" "" "0000559356" "00019316" "50" "1205" "0" "1205" "0" "c.1205C>T" "r.(?)" "p.(Pro402Leu)" "" "0000559357" "00019316" "50" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Glu398Lys)" "" "0000559358" "00019316" "30" "1113" "0" "1113" "0" "c.1113C>T" "r.(?)" "p.(Ile371=)" "" "0000559359" "00019316" "30" "954" "-4" "954" "-4" "c.954-4C>T" "r.spl?" "p.?" "" "0000559360" "00019316" "50" "895" "0" "895" "0" "c.895C>T" "r.(?)" "p.(Arg299Trp)" "" "0000559361" "00019316" "30" "628" "0" "628" "0" "c.628C>G" "r.(?)" "p.(Leu210Val)" "" "0000559362" "00019316" "10" "612" "0" "612" "0" "c.612T>G" "r.(?)" "p.(Arg204=)" "" "0000559363" "00019316" "50" "431" "0" "431" "0" "c.431C>T" "r.(?)" "p.(Pro144Leu)" "" "0000559364" "00019316" "30" "14" "0" "14" "0" "c.14C>T" "r.(?)" "p.(Thr5Ile)" "" "0000616171" "00019316" "30" "1301" "0" "1301" "0" "c.1301T>C" "r.(?)" "p.(Met434Thr)" "" "0000616172" "00019316" "30" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243His)" "" "0000623545" "00019316" "90" "953" "1" "953" "1" "c.953+1G>C" "r.spl?" "p.?" "" "0000685479" "00025685" "90" "490" "0" "491" "0" "c.490_491del" "r.(?)" "p.(Leu164Valfs*41)" "" "0000685479" "00019316" "90" "490" "0" "491" "0" "c.490_491del" "r.(?)" "p.(Leu164Valfs*41)" "" "0000685480" "00025685" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000685480" "00019316" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000692162" "00019316" "90" "1002" "0" "1002" "0" "c.1002del" "r.(?)" "p.(Ser336AlafsTer15)" "" "0000726000" "00019316" "50" "574" "0" "574" "0" "c.574A>C" "r.(?)" "p.(Thr192Pro)" "" "0000732665" "00025685" "70" "388" "5" "388" "5" "c.388+5G>A" "r.(del-exon)" "p.?" "" "0000732665" "00019316" "70" "388" "5" "388" "5" "c.388+5G>A" "r.(del-exon)" "p.?" "" "0000794189" "00025685" "70" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000794189" "00019316" "70" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000794190" "00025685" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000794190" "00019316" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000794268" "00025685" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000794268" "00019316" "70" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000794269" "00025685" "70" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Trp215Leu)" "" "0000794269" "00019316" "70" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Trp215Leu)" "" "0000794270" "00025685" "70" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "" "0000794270" "00019316" "70" "1163" "0" "1163" "0" "c.1163G>T" "r.(?)" "p.(Gly388Val)" "" "0000807622" "00019316" "30" "1032" "0" "1032" "0" "c.1032G>A" "r.(?)" "p.(Leu344=)" "" "0000807623" "00019316" "50" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Thr308Ala)" "" "0000807624" "00019316" "30" "780" "0" "780" "0" "c.780C>T" "r.(?)" "p.(Ala260=)" "" "0000833487" "00025685" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Gly376Arg)" "" "0000833487" "00019316" "70" "1126" "0" "1126" "0" "c.1126G>A" "r.(?)" "p.(Gly376Arg)" "" "0000833496" "00025685" "70" "632" "2" "632" "2" "c.632+2T>G" "r.spl" "p.?" "" "0000833496" "00019316" "70" "632" "2" "632" "2" "c.632+2T>G" "r.spl" "p.?" "" "0000833497" "00025685" "90" "954" "-1" "954" "-1" "c.954-1G>C" "r.spl" "p.?" "" "0000833497" "00019316" "90" "954" "-1" "954" "-1" "c.954-1G>C" "r.spl" "p.?" "" "0000833498" "00025685" "90" "995" "0" "995" "0" "c.995dup" "r.(?)" "p.(Trp333Metfs*35)" "" "0000833498" "00019316" "90" "995" "0" "995" "0" "c.995dup" "r.(?)" "p.(Trp333Metfs*35)" "" "0000833499" "00025685" "70" "855" "0" "855" "0" "c.855G>C" "r.(?)" "p.(Leu285Phe)" "" "0000833499" "00019316" "70" "855" "0" "855" "0" "c.855G>C" "r.(?)" "p.(Leu285Phe)" "1" "0000833500" "00025685" "90" "995" "0" "995" "0" "c.995dup" "r.(?)" "p.(Trp333Metfs*35)" "" "0000833500" "00019316" "90" "995" "0" "995" "0" "c.995dup" "r.(?)" "p.(Trp333Metfs*35)" "" "0000833523" "00025685" "90" "558" "0" "558" "0" "c.558C>A" "r.(?)" "p.(Tyr186*)" "" "0000833523" "00019316" "90" "558" "0" "558" "0" "c.558C>A" "r.(?)" "p.(Tyr186*)" "" "0000833524" "00025685" "90" "1078" "0" "1104" "0" "c.1078_1104del" "r.(?)" "p.(Ala360_Leu368del)" "" "0000833524" "00019316" "90" "1078" "0" "1104" "0" "c.1078_1104del" "r.(?)" "p.(Ala360_Leu368del)" "" "0000833525" "00025685" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000833525" "00019316" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000833526" "00025685" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Gln322*)" "" "0000833526" "00019316" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Gln322*)" "" "0000833528" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833528" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "1" "0000833529" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833529" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "1" "0000833530" "00025685" "90" "707" "0" "707" "0" "c.707T>A" "r.(?)" "p.(Val236Asp)" "" "0000833530" "00019316" "90" "707" "0" "707" "0" "c.707T>A" "r.(?)" "p.(Val236Asp)" "" "0000833531" "00025685" "90" "1002" "0" "1002" "0" "c.1002delG" "r.(?)" "p.(Ser336Alafs*15)" "" "0000833531" "00019316" "90" "1002" "0" "1002" "0" "c.1002delG" "r.(?)" "p.(Ser336Alafs*15)" "" "0000833532" "00025685" "90" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "0000833532" "00019316" "90" "1234" "0" "1234" "0" "c.1234G>A" "r.(?)" "p.(Gly412Arg)" "" "0000833533" "00025685" "90" "" "0" "" "0" "c.-1_*1{0}" "r.0?" "p.0?" "" "0000833533" "00019316" "90" "0" "0" "0" "0" "c.-1_*1{0}" "r.0?" "p.0?" "" "0000833535" "00025685" "90" "101" "0" "101" "0" "c.101T>G" "r.(?)" "p.(Met34Arg)" "" "0000833535" "00019316" "90" "101" "0" "101" "0" "c.101T>G" "r.(?)" "p.(Met34Arg)" "" "0000833536" "00025685" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000833536" "00019316" "90" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000833537" "00025685" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0000833537" "00019316" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0000833538" "00025685" "90" "845" "0" "847" "0" "c.845_847delCTG" "r.(?)" "p.(Ala282del)" "" "0000833538" "00019316" "90" "845" "0" "847" "0" "c.845_847delCTG" "r.(?)" "p.(Ala282del)" "" "0000833539" "00025685" "90" "0" "0" "0" "0" "c.(?_-2-1)_(189+1_190-1){0}" "r.0?" "p.0?" "_1i_2i" "0000833539" "00019316" "90" "0" "0" "0" "0" "c.-1_(189+1_190-1){0}" "r.0?" "p.0?" "_1_1i" "0000833541" "00025685" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000833541" "00019316" "90" "692" "0" "692" "0" "c.692G>A" "r.(?)" "p.(Cys231Tyr)" "" "0000833542" "00025685" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Gln322*)" "" "0000833542" "00019316" "90" "964" "0" "964" "0" "c.964C>T" "r.(?)" "p.(Gln322*)" "" "0000833543" "00025685" "70" "1214" "5" "1214" "5" "c.1214+5G>C" "r.spl?" "p.?" "" "0000833543" "00019316" "70" "1214" "5" "1214" "5" "c.1214+5G>C" "r.spl?" "p.?" "" "0000833544" "00025685" "90" "995" "0" "995" "0" "c.995dup" "r.(?)" "p.(Trp333Metfs*35)" "" "0000833544" "00019316" "90" "995" "0" "995" "0" "c.995dup" "r.(?)" "p.(Trp333Metfs*35)" "" "0000833546" "00025685" "70" "101" "0" "101" "0" "c.101T>G" "r.(?)" "p.(Met34Arg)" "" "0000833546" "00019316" "70" "101" "0" "101" "0" "c.101T>G" "r.(?)" "p.(Met34Arg)" "" "0000833547" "00025685" "70" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000833547" "00019316" "70" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000833548" "00025685" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Trp215Leu)" "" "0000833548" "00019316" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Trp215Leu)" "" "0000833549" "00025685" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000833549" "00019316" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000833551" "00025685" "70" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000833551" "00019316" "70" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(His232Arg)" "" "0000833552" "00025685" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Trp215Leu)" "" "0000833552" "00019316" "50" "644" "0" "644" "0" "c.644G>T" "r.(?)" "p.(Trp215Leu)" "" "0000833553" "00025685" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000833553" "00019316" "50" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Gly228Arg)" "" "0000833584" "00025685" "70" "534" "0" "534" "0" "c.534C>G" "r.(?)" "p.(Ile178Met)" "" "0000833584" "00019316" "70" "534" "0" "534" "0" "c.534C>G" "r.(?)" "p.(Ile178Met)" "" "0000833587" "00025685" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833587" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833594" "00025685" "90" "490" "0" "491" "0" "c.490_491del" "r.(?)" "p.(Leu164Valfs*41)" "" "0000833594" "00019316" "90" "490" "0" "491" "0" "c.490_491del" "r.(?)" "p.(Leu164Valfs*41)" "" "0000833596" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833596" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833613" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833613" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833614" "00025685" "70" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Thr308Ala)" "" "0000833614" "00019316" "70" "922" "0" "922" "0" "c.922A>G" "r.(?)" "p.(Thr308Ala)" "" "0000833622" "00025685" "70" "527" "0" "527" "0" "c.527C>G" "r.(?)" "p.(Thr176Arg)" "" "0000833622" "00019316" "70" "527" "0" "527" "0" "c.527C>G" "r.(?)" "p.(Thr176Arg)" "" "0000833624" "00025685" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833624" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833683" "00025685" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000833683" "00019316" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000833688" "00025685" "90" "6" "0" "9" "0" "c.6_9del" "r.(?)" "p.(Glu2Aspfs*32)" "" "0000833688" "00019316" "90" "6" "0" "9" "0" "c.6_9del" "r.(?)" "p.(Glu2Aspfs*32)" "" "0000833689" "00025685" "70" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Ser)" "" "0000833689" "00019316" "70" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Ser)" "" "0000833693" "00025685" "90" "1029" "0" "1029" "0" "c.1029del" "r.(?)" "p.(Leu344Cysfs*7)" "" "0000833693" "00019316" "90" "1029" "0" "1029" "0" "c.1029del" "r.(?)" "p.(Leu344Cysfs*7)" "" "0000833739" "00025685" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88*)" "" "0000833739" "00019316" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88*)" "" "0000833740" "00025685" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88*)" "" "0000833740" "00019316" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88*)" "" "0000833741" "00025685" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88*)" "" "0000833741" "00019316" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88*)" "" "0000833743" "00025685" "70" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Glu233Gly)" "" "0000833743" "00019316" "70" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Glu233Gly)" "" "0000833762" "00025685" "90" "632" "1" "632" "1" "c.632+1G>A" "r.spl" "p.?" "" "0000833762" "00019316" "90" "632" "1" "632" "1" "c.632+1G>A" "r.spl" "p.?" "" "0000833764" "00025685" "90" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Trp145*)" "" "0000833764" "00019316" "90" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Trp145*)" "" "0000833770" "00025685" "70" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Ser)" "" "0000833770" "00019316" "70" "923" "0" "923" "0" "c.923C>G" "r.(?)" "p.(Thr308Ser)" "" "0000833773" "00025685" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833773" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833774" "00025685" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833774" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000833788" "00025685" "70" "676" "0" "676" "0" "c.676T>C" "r.(?)" "p.(Cys226Arg)" "" "0000833788" "00019316" "70" "676" "0" "676" "0" "c.676T>C" "r.(?)" "p.(Cys226Arg)" "" "0000833789" "00025685" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000833789" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000834491" "00025685" "70" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Gly90Val)" "" "0000834491" "00019316" "70" "269" "0" "269" "0" "c.269G>T" "r.(?)" "p.(Gly90Val)" "" "0000834498" "00025685" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000834498" "00019316" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000834501" "00025685" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000834501" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000834506" "00025685" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000834506" "00019316" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000834520" "00025685" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000834520" "00019316" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000834521" "00025685" "90" "160" "0" "160" "0" "c.160G>T" "r.(?)" "p.(Gly54*)" "" "0000834521" "00019316" "90" "160" "0" "160" "0" "c.160G>T" "r.(?)" "p.(Gly54*)" "" "0000834522" "00025685" "70" "388" "5" "388" "5" "c.388+5G>A" "r.spl?" "p.?" "" "0000834522" "00019316" "70" "388" "5" "388" "5" "c.388+5G>A" "r.spl?" "p.?" "" "0000834523" "00025685" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000834523" "00019316" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000834525" "00025685" "90" "806" "-1" "953" "1" "c.(805+1_806-1)_(953+1_954-1)del" "r.?" "p.?" "7i_8i" "0000834525" "00019316" "90" "806" "-1" "953" "1" "c.(805+1_806-1)_(953+1_954-1)del" "r.?" "p.?" "6i_7i" "0000834526" "00025685" "90" "806" "-1" "1162" "1" "c.(805+1_806-1)_(1162+1_1163-1)del" "r.?" "p.?" "7i_9i" "0000834526" "00019316" "90" "806" "-1" "1162" "1" "c.(805+1_806-1)_(1162+1_1163-1)del" "r.?" "p.?" "6i_8i" "0000834548" "00025685" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000834548" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000836560" "00025685" "90" "0" "0" "0" "0" "c.-247_*117{0}" "r.0" "p.0" "_1_11_" "0000836560" "00019316" "90" "0" "0" "0" "0" "c.-247_*117{0}" "r.0" "p.0" "" "0000836561" "00025685" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000836561" "00019316" "70" "697" "0" "697" "0" "c.697G>A" "r.(?)" "p.(Glu233Lys)" "" "0000836563" "00025685" "90" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000836564" "00025685" "90" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000836565" "00025685" "90" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000836566" "00025685" "90" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000836567" "00025685" "90" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000836568" "00025685" "90" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000836589" "00025685" "90" "806" "-1" "1162" "1" "c.(805+1_806-1)_(1162+1_1163-1)del" "r.?" "p.?" "7i_9i" "0000836589" "00019316" "90" "806" "-1" "1162" "1" "c.(805+1_806-1)_(1162+1_1163-1)del" "r.?" "p.?" "6i_8i" "0000837173" "00019316" "70" "260" "0" "260" "0" "c.260C>T" "r.(?)" "p.(Thr87Ile)" "" "0000837174" "00019316" "70" "800" "0" "800" "0" "c.800T>G" "r.(?)" "p.(Leu267Arg)" "" "0000837176" "00019316" "90" "598" "0" "598" "0" "c.598C>T" "r.(?)" "p.(Gln200*)" "" "0000837177" "00019316" "70" "1256" "0" "1256" "0" "c.1256G>T" "r.(?)" "p.(Gly419Val)" "" "0000838983" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000838984" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000838986" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000838988" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000838993" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000838995" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000838996" "00019316" "70" "95" "0" "95" "0" "c.95T>G" "r.(?)" "p.(Ile32Ser)" "" "0000839032" "00019316" "70" "848" "0" "848" "0" "c.848A>C" "r.(?)" "p.(Asp283Ala)" "" "0000839048" "00019316" "90" "190" "-1" "690" "1" "c.(189+1_190-1)_(690+1_691-1)del" "r.?" "p.?" "1i_5i" "0000839051" "00019316" "70" "101" "0" "101" "0" "c.101T>G" "r.(?)" "p.(Met34Arg)" "" "0000843737" "00019316" "90" "995" "0" "995" "0" "c.995dupG" "r.(?)" "p.(Trp333Metfs*35)" "" "0000921862" "00025685" "90" "435" "0" "435" "0" "c.435G>A" "r.(?)" "p.(Trp145Ter)" "" "0000921863" "00025685" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88Ter)" "" "0000921899" "00025685" "90" "264" "0" "264" "0" "c.264C>G" "r.(?)" "p.(Tyr88Ter)" "" "0000921914" "00025685" "90" "698" "0" "698" "0" "c.698A>G" "r.(?)" "p.(Glu233Gly)" "" "0000921933" "00025685" "90" "632" "1" "632" "1" "c.632+1G>A" "r.spl" "p.?" "" "0000926354" "00025685" "90" "697" "0" "697" "0" "c.697G>T" "r.(?)" "p.(Glu233*)" "" "0000926354" "00019316" "90" "697" "0" "697" "0" "c.697G>T" "r.(?)" "p.(Glu233*)" "" "0000926355" "00025685" "50" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Ile170Met)" "" "0000926355" "00019316" "50" "510" "0" "510" "0" "c.510C>G" "r.(?)" "p.(Ile170Met)" "" "0000930661" "00025685" "50" "530" "3" "530" "3" "c.530+3A>G" "r.spl?" "p.?" "" "0000930661" "00019316" "50" "530" "3" "530" "3" "c.530+3A>G" "r.spl?" "p.?" "" "0000930662" "00025685" "50" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Ile170Asn)" "" "0000930662" "00019316" "50" "509" "0" "509" "0" "c.509T>A" "r.(?)" "p.(Ile170Asn)" "" "0001026763" "00025685" "50" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(*436Argext*33)" "" "0001026763" "00019316" "50" "1306" "0" "1306" "0" "c.1306T>C" "r.(?)" "p.(*436Argext*?)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 106 "{{screeningid}}" "{{variantid}}" "0000001441" "0000019238" "0000004056" "0000022962" "0000156416" "0000358338" "0000310568" "0000685479" "0000310569" "0000685480" "0000334685" "0000732665" "0000380947" "0000794189" "0000380947" "0000794190" "0000381004" "0000794268" "0000381004" "0000794269" "0000381004" "0000794270" "0000400562" "0000833487" "0000400562" "0000833539" "0000400571" "0000833496" "0000400572" "0000833497" "0000400572" "0000833498" "0000400573" "0000833499" "0000400573" "0000833500" "0000400593" "0000833523" "0000400593" "0000833524" "0000400594" "0000833525" "0000400594" "0000833526" "0000400596" "0000833528" "0000400597" "0000833529" "0000400598" "0000833530" "0000400599" "0000833531" "0000400600" "0000833532" "0000400600" "0000833533" "0000400602" "0000833535" "0000400603" "0000833536" "0000400604" "0000833537" "0000400604" "0000833538" "0000400605" "0000833541" "0000400605" "0000833542" "0000400606" "0000833543" "0000400606" "0000833544" "0000400607" "0000833546" "0000400608" "0000833547" "0000400608" "0000833548" "0000400608" "0000833549" "0000400609" "0000833551" "0000400609" "0000833552" "0000400609" "0000833553" "0000400628" "0000833584" "0000400628" "0000839048" "0000400630" "0000833587" "0000400637" "0000833594" "0000400637" "0000833596" "0000400650" "0000833613" "0000400651" "0000833614" "0000400651" "0000834525" "0000400656" "0000833622" "0000400656" "0000833624" "0000400711" "0000833683" "0000400711" "0000834526" "0000400712" "0000833688" "0000400712" "0000833689" "0000400716" "0000833693" "0000400757" "0000833739" "0000400758" "0000833740" "0000400759" "0000833741" "0000400761" "0000833743" "0000400778" "0000833762" "0000400778" "0000833764" "0000400779" "0000833770" "0000400779" "0000836589" "0000400780" "0000833773" "0000400781" "0000833774" "0000400790" "0000833788" "0000400790" "0000833789" "0000401298" "0000834491" "0000401298" "0000834501" "0000401313" "0000834498" "0000401314" "0000834506" "0000401315" "0000834520" "0000401316" "0000834521" "0000401316" "0000834522" "0000401317" "0000834523" "0000401328" "0000834548" "0000401328" "0000836560" "0000402417" "0000836561" "0000402419" "0000836563" "0000402420" "0000836564" "0000402421" "0000836565" "0000402422" "0000836566" "0000402423" "0000836567" "0000402424" "0000836568" "0000402891" "0000837173" "0000402891" "0000837174" "0000402893" "0000837176" "0000402894" "0000837177" "0000403550" "0000838983" "0000403551" "0000838984" "0000403553" "0000838986" "0000403554" "0000838988" "0000403556" "0000838993" "0000403558" "0000838995" "0000403559" "0000838996" "0000403582" "0000839032" "0000403591" "0000839051" "0000407216" "0000843737" "0000435689" "0000921862" "0000435689" "0000921933" "0000435690" "0000921863" "0000435726" "0000921899" "0000435741" "0000921914"