### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = APOB) # 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}}" "APOB" "apolipoprotein B" "2" "p24.1" "unknown" "NC_000002.12" "UD_144408700248" "" "" "" "1" "603" "338" "107730" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-30 00:00:00" "00001" "2022-12-27 16:58:23" "00006" "2021-08-25 09:39:03" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000049" "APOB" "apolipoprotein B" "001" "NM_000384.2" "" "NP_000375.2" "" "" "" "-128" "13993" "13692" "21044073" "21001429" "00001" "2020-11-30 11:11:43" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00031" "FH" "Familial hypercholesterolemia" "" "" "" "" "" "00001" "2020-11-29 09:15:44" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "APOB" "00031" ## Individuals ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Remarks_Non_Public}}" "{{Individual/Origin/Geographic}}" "{{Individual/Origin/Ethnic}}" "{{Individual/Origin/Population}}" "{{Individual/Gender}}" "00000200" "" "" "" "1" "" "00002" "{PMID:Say-Hean Lye et al. (2013):23593297}" "" "" "Malaysia" "" "" "" "00000201" "" "" "" "1" "" "00002" "{DOI:Alyaa Al-Khateeb et al. (2016):10.3823/2053}" "" "" "Malaysia" "" "" "" "00000214" "" "" "" "1" "" "00002" "{PMID:Livy Alex et al. (2012):22534770}" "" "" "Malaysia" "" "" "" "00000595" "" "" "" "1" "" "00004" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{individualid}}" "{{diseaseid}}" "00000200" "00031" "00000201" "00031" "00000214" "00031" "00000595" "00031" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00031 ## Count = 3 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Additional}}" "{{Phenotype/Inheritance}}" "0000000097" "00031" "00000200" "00002" "" "Familial, autosomal dominant" "0000000098" "00031" "00000201" "00002" "" "Familial, autosomal dominant" "0000000100" "00031" "00000214" "00002" "" "Familial, autosomal dominant" ## Screenings ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000215" "00000200" "1" "00002" "00002" "2020-11-30 11:16:04" "" "" "SEQ-NG-I;SEQ" "DNA" "0000000216" "00000201" "1" "00002" "00002" "2020-11-30 12:18:08" "" "" "DHPLC;SEQ" "DNA" "0000000229" "00000214" "1" "00002" "00002" "2020-12-03 09:31:54" "" "" "SEQ-NG-I" "DNA" "0000000661" "00000595" "1" "00004" "00004" "2021-04-25 14:22:07" "" "" "DHPLC" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 4 "{{screeningid}}" "{{geneid}}" "0000000215" "APOB" "0000000216" "APOB" "0000000229" "APOB" "0000000661" "APOB" ## 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 = 44 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/dbSNP}}" "0000001013" "0" "00" "2" "21013213" "21013213" "subst" "0" "00002" "APOB_000001" "g.21013213C>T" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs13306187}, {ClinVar:334146}" "" "" "rs13306187" "0000001014" "0" "90" "2" "21029662" "21029662" "subst" "0" "00002" "APOB_000002" "g.21029662G>A" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs13306194}" "" "" "rs13306194" "0000001015" "0" "90" "2" "21037332" "21037332" "subst" "0" "00002" "APOB_000003" "g.21037332G>A" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs12714238}" "" "" "rs12714238" "0000001016" "0" "90" "2" "21020434" "21020434" "subst" "0" "00002" "APOB_000004" "g.21020434C>T" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs12720772}" "" "" "rs12720772" "0000001017" "0" "90" "2" "21043787" "21043787" "subst" "0" "00002" "APOB_000005" "g.21043787C>G" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs12720762}" "" "" "rs12720762" "0000001018" "0" "90" "2" "21026968" "21026968" "subst" "0" "00002" "APOB_000006" "g.21026968A>T" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs41291161}" "" "" "rs41291161" "0000001019" "0" "90" "2" "21024193" "21024193" "subst" "0" "00002" "APOB_000007" "g.21024193T>A" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs57825321}" "" "" "rs57825321" "0000001020" "0" "90" "2" "21042065" "21042065" "subst" "0" "00002" "APOB_000008" "g.21042065T>A" "1/8" "{PMID:Say-Hean Lye et al. (2013):23593297}, {dbSNP:rs12714254}" "" "" "rs12714254" "0000001021" "0" "10" "2" "21009323" "21009323" "subst" "0" "00002" "APOB_000009" "g.21009323G>A" "1/9" "{dbSNP:rs693}, {ClinVar:128425}" "Thr2515Thr" "" "rs693" "0000001022" "0" "00" "2" "21009249" "21009249" "subst" "0" "00002" "APOB_000010" "g.21009249C>A" "1/9" "{dbSNP:rs571626569}, {ClinVar:477818}" "Gly2540Val" "" "rs571626569" "0000001023" "0" "00" "2" "21008720" "21008720" "subst" "0" "00002" "APOB_000011" "g.21008720G>A" "1/9" "{dbSNP:rs6413458}, {ClinVar:237751}" "Ile2716Ile" "" "rs6413458" "0000001024" "0" "90" "2" "21008652" "21008652" "subst" "0" "00002" "APOB_000012" "g.21008652G>A" "1/9" "{dbSNP:rs676210}" "" "" "rs676210" "0000001025" "0" "30" "2" "21006167" "21006167" "subst" "0" "00002" "APOB_000013" "g.21006167C>A" "1/9" "{dbSNP:rs12713558}, {ClinVar:544110}" "Thr3567Thr" "" "rs12713558" "0000001026" "0" "70" "2" "21002613" "21002613" "subst" "0" "00002" "APOB_000014" "g.21002613C>G" "1/9" "{dbSNP:rs1801702}" "" "" "rs1801702" "0000001027" "0" "50" "2" "21002532" "21002532" "subst" "0" "00002" "APOB_000015" "g.21002532C>T" "1/9" "{dbSNP:rs375701380}, {ClinVar:630404}" "" "" "rs375701380" "0000001028" "0" "70" "2" "21002409" "21002409" "subst" "0" "00002" "APOB_000016" "g.21002409C>T" "1/9" "{dbSNP:rs1042034}" "" "" "rs1042034" "0000001029" "0" "70" "2" "21002881" "21002881" "subst" "0" "00002" "APOB_000017" "g.21002881C>T" "1/9" "{ClinVar:128417}" "" "" "" "0000001076" "0" "70" "2" "21003040" "21003040" "subst" "0" "00002" "APOB_000018" "g.21003040C>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs1801703}" "" "" "rs1801703" "0000001077" "0" "00" "2" "21004459" "21004459" "subst" "0" "00002" "APOB_000019" "g.21004459G>A" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720851}, {ClinVar:255975}" "" "" "rs12720851" "0000001078" "0" "50" "2" "21007324" "21007324" "subst" "0" "00002" "APOB_000020" "g.21007324G>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720848}, {ClinVar:630267}" "" "" "rs12720848" "0000001079" "0" "00" "2" "21008720" "21008720" "subst" "0" "00002" "APOB_000011" "g.21008720G>A" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs6413458}, {ClinVar:237751}" "Ile2716Ile" "" "rs6413458" "0000001080" "0" "70" "2" "21008829" "21008829" "subst" "0" "00002" "APOB_000021" "g.21008829A>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs1042013}" "" "" "rs1042013" "0000001081" "0" "70" "2" "21012693" "21012693" "subst" "0" "00002" "APOB_000022" "g.21012693C>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12713771}" "" "" "rs12713771" "0000001082" "0" "70" "2" "21015541" "21015541" "subst" "0" "00002" "APOB_000023" "g.21015541C>G" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12713844}" "" "" "rs12713844" "0000001083" "0" "70" "2" "21017666" "21017666" "subst" "0" "00002" "APOB_000024" "g.21017666G>A" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12713911}" "" "" "rs12713911" "0000001084" "0" "70" "2" "21018872" "21018872" "subst" "0" "00002" "APOB_000025" "g.21018872C>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720828}" "" "" "rs12720828" "0000001085" "0" "70" "2" "21019741" "21019741" "subst" "0" "00002" "APOB_000026" "g.21019741G>A" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs41288783}" "" "" "rs41288783" "0000001086" "0" "70" "2" "21021128" "21021128" "subst" "0" "00002" "APOB_000027" "g.21021128G>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs10199768}" "" "" "rs10199768" "0000001087" "0" "70" "2" "21023265" "21023265" "subst" "0" "00002" "APOB_000028" "g.21023265A>T" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720779}" "" "" "rs12720779" "0000001088" "0" "70" "2" "21027062" "21027062" "subst" "0" "00002" "APOB_000029" "g.21027062A>G" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs3828293}" "" "" "rs3828293" "0000001089" "0" "70" "2" "21035055" "21035055" "subst" "0" "00002" "APOB_000030" "g.21035055T>C" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720842}" "" "" "rs12720842" "0000001090" "0" "00" "2" "21037264" "21037264" "subst" "0" "00002" "APOB_000031" "g.21037264G>A" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs1800478}, {ClinVar:334182}" "" "" "rs1800478" "0000001091" "0" "70" "2" "21039126" "21039126" "subst" "0" "00002" "APOB_000032" "g.21039126A>C" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720796}" "" "" "rs12720796" "0000001092" "0" "70" "2" "21039884" "21039884" "subst" "0" "00002" "APOB_000033" "g.21039884G>A" "1/17" "{PMID:Livy Alex et al. (2012):22534770}, {dbSNP:rs12720789}" "" "" "rs12720789" "0000002652" "0" "90" "2" "21009323" "21009323" "subst" "0" "00004" "APOB_000009" "g.21009323G>A" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "p.Thr2515Thr" "" "rs693" "0000002653" "0" "90" "2" "21015243" "21015243" "subst" "0" "00004" "APOB_000034" "g.21015243T>C" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "p.Thr3567Thr" "" "rs12713558" "0000002654" "0" "90" "2" "21002613" "21002613" "subst" "0" "00004" "APOB_000014" "g.21002613C>G" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "rs1801702" "0000002655" "0" "90" "2" "21002394" "21002394" "subst" "0" "00004" "APOB_000035" "g.21002394T>C" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "" "0000002656" "0" "90" "2" "21002409" "21002409" "subst" "0" "00004" "APOB_000016" "g.21002409C>T" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "" "0000002657" "0" "90" "2" "21002532" "21002532" "subst" "0" "00004" "APOB_000015" "g.21002532C>T" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "rs375701380" "0000002658" "0" "90" "2" "21006168" "21006168" "subst" "0" "00004" "APOB_000036" "g.21006168G>A" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "rs368278927" "0000002659" "0" "90" "2" "21009414" "21009414" "subst" "0" "00004" "APOB_000037" "g.21009414T>C" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "rs779284353" "0000002660" "0" "90" "2" "21006292" "21006292" "subst" "0" "00004" "APOB_000038" "g.21006292T>C" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "rs756696584" "0000002661" "0" "90" "2" "21005872" "21005872" "subst" "0" "00004" "APOB_000039" "g.21005872C>T" "" "{PMID:Alyaa R Al-Khateeb et al.(2013):3775634}" "" "" "rs1194941592" ## 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 APOB ## Count = 44 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001013" "00000049" "00" "4163" "0" "4163" "0" "c.4163G>A" "25" "p.(Arg1388His)" "r.(?)" "" "" "{ClinVar:334146}" "0000001014" "00000049" "90" "1594" "0" "1594" "0" "c.1594C>T" "12" "p.(Arg532Trp)" "r.(?)" "" "" "" "0000001015" "00000049" "90" "538" "-77" "538" "-77" "c.538-77C>T" "5i" "p.(=)" "r.(=)" "" "" "" "0000001016" "00000049" "90" "2817" "-529" "2817" "-529" "c.2817-529G>A" "18i" "p.(=)" "r.(=)" "" "" "" "0000001017" "00000049" "90" "82" "77" "82" "77" "c.82+77G>C" "1i" "p.(=)" "r.(=)" "" "" "" "0000001018" "00000049" "90" "2068" "-4" "2068" "-4" "c.2068-4T>A" "14i" "p.?" "r.spl?" "" "" "" "0000001019" "00000049" "90" "2437" "-501" "2437" "-501" "c.2437-501A>T" "16i" "p.(=)" "r.(=)" "" "" "" "0000001020" "00000049" "90" "237" "296" "237" "296" "c.237+296A>T" "3i" "p.(=)" "r.(=)" "" "" "" "0000001021" "00000049" "10" "7545" "0" "7545" "0" "c.7545C>T" "26" "p.(=)" "r.(=)" "" "" "{ClinVar:128425}" "0000001022" "00000049" "00" "7619" "0" "7619" "0" "c.7619G>T" "26" "p.(Gly2540Val)" "r.(?)" "" "" "{ClinVar:477818}" "0000001023" "00000049" "00" "8148" "0" "8148" "0" "c.8148C>T" "26" "p.(=)" "r.(=)" "" "" "{ClinVar:237751}" "0000001024" "00000049" "90" "8216" "0" "8216" "0" "c.8216C>T" "26" "p.(Pro2739Leu)" "r.(?)" "" "" "" "0000001025" "00000049" "30" "10701" "0" "10701" "0" "c.10701G>T" "26" "p.(=)" "r.(=)" "" "" "{ClinVar:544110}" "0000001026" "00000049" "70" "12809" "0" "12809" "0" "c.12809G>C" "29" "p.(Arg4270Thr)" "r.(?)" "" "" "" "0000001027" "00000049" "50" "12890" "0" "12890" "0" "c.12890G>A" "29" "p.(Arg4297His)" "r.(?)" "" "" "{ClinVar:630404}" "0000001028" "00000049" "70" "13013" "0" "13013" "0" "c.13013G>A" "29" "p.(Ser4338Asn)" "r.(?)" "" "" "" "0000001029" "00000049" "70" "12541" "0" "12541" "0" "c.12541G>A" "29" "p.(Glu4181Lys)" "r.(?)" "" "" "" "0000001076" "00000049" "70" "12382" "0" "12382" "0" "c.12382G>A" "29" "p.(Val4128Met)" "r.(?)" "" "" "" "0000001077" "00000049" "00" "11904" "-7" "11904" "-7" "c.11904-7C>T" "27i" "p.(=)" "r.(=)" "" "" "{ClinVar:255975}" "0000001078" "00000049" "50" "9544" "0" "9544" "0" "c.9544C>A" "26" "p.(His3182Asn)" "r.(?)" "" "" "{ClinVar:630267}" "0000001079" "00000049" "00" "8148" "0" "8148" "0" "c.8148C>T" "26" "p.(=)" "r.(=)" "" "" "{ClinVar:237751}" "0000001080" "00000049" "70" "8039" "0" "8039" "0" "c.8039T>A" "26" "p.(Leu2680Gln)" "r.(?)" "" "" "" "0000001081" "00000049" "70" "4217" "-42" "4217" "-42" "c.4217-42G>A" "25i" "p.(=)" "r.(=)" "" "" "" "0000001082" "00000049" "70" "3337" "0" "3337" "0" "c.3337G>C" "22" "p.(Asp1113His)" "r.(?)" "" "" "" "0000001083" "00000049" "70" "3122" "-1017" "3122" "-1017" "c.3122-1017C>T" "20i" "p.(=)" "r.(=)" "" "" "" "0000001084" "00000049" "70" "3121" "120" "3121" "120" "c.3121+120G>A" "20i" "p.(=)" "r.(=)" "" "" "" "0000001085" "00000049" "70" "2981" "0" "2981" "0" "c.2981C>T" "19" "p.(Pro994Leu)" "r.(?)" "" "" "" "0000001086" "00000049" "70" "2817" "-1223" "2817" "-1223" "c.2817-1223C>A" "18i" "p.(=)" "r.(=)" "" "" "" "0000001087" "00000049" "70" "2605" "-223" "2605" "-223" "c.2605-223T>A" "17i" "p.(=)" "r.(=)" "" "" "" "0000001088" "00000049" "70" "2068" "-98" "2068" "-98" "c.2068-98T>C" "14i" "p.(=)" "r.(=)" "" "" "" "0000001089" "00000049" "70" "819" "-154" "819" "-154" "c.819-154A>G" "7i" "p.(=)" "r.(=)" "" "" "" "0000001090" "00000049" "00" "538" "-9" "538" "-9" "c.538-9C>T" "5i" "p.(=)" "r.(=)" "" "" "{ClinVar:334182}" "0000001091" "00000049" "70" "384" "-1015" "384" "-1015" "c.384-1015T>G" "4i" "p.(=)" "r.(=)" "" "" "" "0000001092" "00000049" "70" "383" "1054" "383" "1054" "c.383+1054C>T" "4i" "p.(=)" "r.(=)" "" "" "" "0000002652" "00000049" "90" "7545" "0" "7545" "0" "c.7545C>T" "26" "p.(=)" "r.(=)" "" "" "Likely-Benign" "0000002653" "00000049" "90" "10701" "0" "10701" "0" "c.10701G>A" "26" "p.(=)" "r.(=)" "" "" "Likely-Benign" "0000002654" "00000049" "90" "12809" "0" "12809" "0" "c.12809G>C" "29" "p.(Arg4270Thr)" "r.(?)" "" "" "" "0000002655" "00000049" "90" "13028" "0" "13028" "0" "c.13028A>G" "29" "p.(Tyr4343Cys)" "r.(?)" "" "" "Uncertain significance" "0000002656" "00000049" "90" "13013" "0" "13013" "0" "c.13013G>A" "29" "p.(Ser4338Asn)" "r.(?)" "" "" "Benign" "0000002657" "00000049" "90" "12890" "0" "12890" "0" "c.12890G>A" "29" "p.(Arg4297His)" "r.(?)" "" "" "Uncertain significance" "0000002658" "00000049" "90" "10700" "0" "10700" "0" "c.10700C>T" "26" "p.(Thr3567Met)" "r.(?)" "" "" "Uncertain significance" "0000002659" "00000049" "90" "7454" "0" "7454" "0" "c.7454A>G" "26" "p.(Gln2485Arg)" "r.(?)" "" "" "" "0000002660" "00000049" "90" "10576" "0" "10576" "0" "c.10576A>G" "26" "p.(Thr3526Ala)" "r.(?)" "" "" "" "0000002661" "00000049" "90" "10996" "0" "10996" "0" "c.10996G>A" "26" "p.(Glu3666Lys)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{variantid}}" "0000000215" "0000001013" "0000000215" "0000001014" "0000000215" "0000001015" "0000000215" "0000001016" "0000000215" "0000001017" "0000000215" "0000001018" "0000000215" "0000001019" "0000000215" "0000001020" "0000000216" "0000001021" "0000000216" "0000001022" "0000000216" "0000001023" "0000000216" "0000001024" "0000000216" "0000001025" "0000000216" "0000001026" "0000000216" "0000001027" "0000000216" "0000001028" "0000000216" "0000001029" "0000000229" "0000001076" "0000000229" "0000001077" "0000000229" "0000001078" "0000000229" "0000001079" "0000000229" "0000001080" "0000000229" "0000001081" "0000000229" "0000001082" "0000000229" "0000001083" "0000000229" "0000001084" "0000000229" "0000001085" "0000000229" "0000001086" "0000000229" "0000001087" "0000000229" "0000001088" "0000000229" "0000001089" "0000000229" "0000001090" "0000000229" "0000001091" "0000000229" "0000001092" "0000000661" "0000002652" "0000000661" "0000002653" "0000000661" "0000002654" "0000000661" "0000002655" "0000000661" "0000002656" "0000000661" "0000002657" "0000000661" "0000002658" "0000000661" "0000002659" "0000000661" "0000002660" "0000000661" "0000002661"