### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = F8) # 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}}" "F8" "coagulation factor VIII" "X" "q28" "unknown" "NG_011403.1" "UD_144418651165" "" "" "" "1" "3546" "2157" "300841" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-11-23 09:41:55" "" "" "00006" "2021-09-13 15:35:37" ## 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}}" "00000041" "F8" "transcript variant 1" "001" "NM_000132.3" "" "NP_000123.1" "" "" "" "-171" "8865" "7056" "155022723" "154835788" "00001" "2020-11-23 09:42:32" "" "" ## 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}}" "00026" "F8" "Haemophilia A" "" "" "" "" "" "00001" "2020-11-23 09:41:35" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "F8" "00026" ## Individuals ## Do not remove or alter this header ## ## Count = 5 "{{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}}" "00000178" "" "" "" "1" "" "00002" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "Malaysia" "Malay" "" "" "00000179" "" "" "" "1" "" "00002" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "Malaysia" "Chinese" "" "" "00000180" "" "" "" "1" "" "00002" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "Malaysia" "Indian" "" "" "00000181" "" "" "" "1" "" "00002" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "Malaysia" "" "" "" "00000202" "" "" "" "1" "" "00002" "{PMID:Emmanuel Jairaj Moses et al. (2012):23543988}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{individualid}}" "{{diseaseid}}" "00000178" "00026" "00000179" "00026" "00000180" "00026" "00000181" "00026" "00000202" "00026" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00026 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000193" "00000178" "1" "00002" "00002" "2020-11-23 09:45:44" "" "" "MLPA;PCRlr;SEQ" "DNA" "0000000194" "00000179" "1" "00002" "00002" "2020-11-23 12:04:52" "" "" "MLPA;PCRlr;SEQ" "DNA" "0000000195" "00000180" "1" "00002" "00002" "2020-11-23 14:42:54" "" "" "MLPA;PCRlr;SEQ" "DNA" "0000000196" "00000181" "1" "00002" "00002" "2020-11-23 14:54:19" "" "" "MLPA;PCR;SEQ" "DNA" "0000000217" "00000202" "1" "00002" "00002" "2020-12-01 10:50:02" "" "" "PCR;SEQ" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 5 "{{screeningid}}" "{{geneid}}" "0000000193" "F8" "0000000194" "F8" "0000000195" "F8" "0000000196" "F8" "0000000217" "F8" ## 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 = 45 "{{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}}" "0000000852" "0" "90" "X" "154969333" "154969333" "subst" "0" "00002" "F8_000001" "g.154969333T>G" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "rs121909528" "0000000853" "0" "90" "X" "154966059" "154966059" "subst" "0" "00002" "F8_000002" "g.154966059C>A" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "D452Y" "" "rs727503838" "0000000854" "0" "90" "X" "154930179" "154930179" "dup" "0" "00002" "F8_000003" "g.154930179dupT" "2/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "N1204Kfs*2" "" "" "0000000855" "0" "90" "X" "154931094" "154931094" "del" "0" "00002" "F8_000004" "g.154931094delC" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "S899Ifs*6" "" "" "0000000856" "0" "90" "X" "154930028" "154930028" "del" "0" "00002" "F8_000005" "g.154930028delA" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "N1254Kfs*2" "" "rs1057518653" "0000000857" "0" "90" "X" "154837667" "154837667" "subst" "0" "00002" "F8_000006" "g.154837667G>C" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "P2329R" "" "rs80358925" "0000000858" "0" "90" "X" "154931631" "154931631" "subst" "0" "00002" "F8_000007" "g.154931631C>A" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "G720V" "" "" "0000000859" "0" "90" "X" "154904502" "154904502" "subst" "0" "00002" "F8_000008" "g.154904502A>G" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "L1870P" "" "rs786201023" "0000000860" "0" "90" "X" "154899867" "154899867" "subst" "0" "00002" "F8_000009" "g.154899867T>G" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "K2091T" "" "" "0000000861" "0" "90" "X" "154896075" "154896075" "subst" "0" "00002" "F8_000010" "g.154896075A>T" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "" "0000000862" "0" "90" "X" "154903905" "154903905" "subst" "0" "00002" "F8_000011" "g.154903905C>T" "3/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "c.5998-1G>A" "" "" "0000000863" "0" "90" "X" "154993013" "154993013" "subst" "0" "00002" "F8_000012" "g.154993013T>G" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "Y175S" "" "rs1603251548" "0000000864" "0" "90" "X" "154896189" "154896189" "subst" "0" "00002" "F8_000013" "g.154896189T>G" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "Q2106P" "" "" "0000000865" "0" "90" "X" "154861759" "154861759" "subst" "0" "00002" "F8_000014" "g.154861759G>A" "2/29" "{PMID:Maimiza Zahari et al. (2018):30210749}{dbSNP:rs137852355}" "R2228*" "" "rs137852355" "0000000866" "0" "30" "X" "154931407" "154931407" "subst" "0" "00002" "F8_000015" "g.154931407T>C" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}{dbSNP:rs2228152}" "R795G" "" "rs2228152" "0000000867" "0" "90" "X" "154903963" "154903963" "subst" "0" "00002" "F8_000016" "g.154903963C>T" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "V1981M" "" "rs1580670614" "0000000868" "0" "90" "X" "154965970" "154965970" "subst" "0" "00002" "F8_000017" "g.154965970C>T" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "L481L" "" "rs139371109" "0000000869" "0" "90" "X" "154953983" "154953983" "subst" "0" "00002" "F8_000018" "g.154953983C>G" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}{dbSNP:rs137852426}" "W604C" "" "rs137852426" "0000000870" "0" "90" "X" "154930153" "154930153" "del" "0" "00002" "F8_000019" "g.154930153delT" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}{dbSNP:rs387906450}" "I1213Ffs*5" "" "rs387906450" "0000000871" "0" "90" "X" "154904421" "154904422" "del" "0" "00002" "F8_000020" "g.154904421_154904422delAG" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "L1897Vfs*6" "" "" "0000000872" "0" "90" "X" "154992982" "154992983" "del" "0" "00002" "F8_000021" "g.154992982_154992983del" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "c.553DelAA" "" "rs727502805" "0000000873" "0" "90" "X" "154930615" "154930615" "del" "0" "00002" "F8_000022" "g.154930615delT" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "V1060*fs" "" "rs62640570" "0000000874" "0" "90" "X" "154930161" "154930161" "dup" "0" "00002" "F8_000023" "g.154930161dupT" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "I1213Nfs*28" "" "rs886040154" "0000000875" "0" "90" "X" "154928970" "154928970" "dup" "0" "00002" "F8_000024" "g.154928970dupT" "1/29" "{PMID:Maimiza Zahari et al. (2018):30210749}" "c.4820InsA" "" "" "0000000876" "0" "90" "X" "154928843" "154928844" "del" "0" "00002" "F8_000025" "g.154928843_154928844del" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "G1649Efs*3" "" "" "0000000877" "0" "90" "X" "154966681" "154966681" "subst" "0" "00002" "F8_000026" "g.154966681A>C" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "M339R" "" "rs138125678" "0000000878" "0" "90" "X" "154860475" "154860475" "subst" "0" "00002" "F8_000027" "g.154860475T>A" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "D2286V" "" "" "0000000879" "0" "90" "X" "154896151" "154896151" "del" "0" "00002" "F8_000028" "g.154896151delG" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "Q2119Sfs*24" "" "" "0000000880" "0" "90" "X" "154957013" "154957013" "subst" "0" "00002" "F8_000029" "g.154957013G>A" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "L566F" "" "rs748022488" "0000000881" "0" "90" "X" "154930161" "154930161" "dup" "0" "00002" "F8_000023" "g.154930161dupT" "2/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "3629InsA" "" "rs886040154" "0000000882" "0" "90" "X" "154929634" "154929634" "subst" "0" "00002" "F8_000030" "g.154929634G>A" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "Q1386*" "" "rs201270852" "0000000883" "0" "90" "X" "154997087" "154997087" "subst" "0" "00002" "F8_000031" "g.154997087C>G" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "G92R" "" "rs146651027" "0000000884" "0" "90" "X" "154997087" "154997087" "subst" "0" "00002" "F8_000032" "g.154997087C>T" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "G92S" "" "rs2228479" "0000000885" "0" "90" "X" "154984686" "154984686" "subst" "0" "00002" "F8_000033" "g.154984686C>T" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "" "0000000886" "0" "90" "X" "154966526" "154966526" "subst" "0" "00002" "F8_000034" "g.154966526G>A" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}{dbSNP:rs137852364}" "R391C" "" "rs137852364" "0000000887" "0" "90" "X" "154904025" "154904025" "subst" "0" "00002" "F8_000035" "g.154904025C>T" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}{dbSNP:rs28937294}" "R1960Q" "" "rs28937294" "0000000888" "0" "90" "X" "154902081" "154902081" "subst" "0" "00002" "F8_000036" "g.154902081T>A" "1/14" "{PMID:Maimiza Zahari et al. (2018):30210749}" "M2029L" "" "" "0000000889" "0" "90" "X" "154984686" "154984686" "subst" "0" "00002" "F8_000037" "g.154984686C>A" "1/3" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "" "0000000890" "0" "90" "X" "154904809" "154904809" "subst" "0" "00002" "F8_000038" "g.154904809A>C" "1/3" "{PMID:Maimiza Zahari et al. (2018):30210749}" "" "" "" "0000000891" "0" "90" "X" "154930165" "154930165" "subst" "0" "00002" "F8_000039" "g.154930165G>A" "1" "{PMID:Maimiza Zahari et al. (2018):30210749}" "Q1209*" "" "rs769449619" "0000001031" "0" "90" "X" "154930712" "154930712" "subst" "0" "00002" "F8_000040" "g.154930712T>G" "1/6" "{PMID:Emmanuel Jairaj Moses et al. (2012):23543988}" "Ser1026Ser" "" "rs1597716965" "0000001032" "0" "90" "X" "154930465" "154930465" "subst" "0" "00002" "F8_000041" "g.154930465G>A" "1/6" "{PMID:Emmanuel Jairaj Moses et al. (2012):23543988}" "" "" "rs761687232" "0000001033" "0" "10" "X" "154929926" "154929926" "subst" "0" "00002" "F8_000042" "g.154929926T>G" "2/6" "{PMID:Emmanuel Jairaj Moses et al. (2012):23543988}, {dbSNP:rs1800292}, {ClinVar:41000}" "Ser1288Ser*" "" "rs1800292" "0000001034" "0" "90" "X" "154930615" "154930615" "del" "0" "00002" "F8_000022" "g.154930615delT" "1/6" "{PMID:Emmanuel Jairaj Moses et al. (2012):23543988}" "" "" "rs62640570" "0000001035" "0" "90" "X" "154930610" "154930610" "subst" "0" "00002" "F8_000043" "g.154930610T>A" "1/6" "{PMID:Emmanuel Jairaj Moses et al. (2012):23543988}" "" "" "" ## 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 F8 ## Count = 45 "{{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}}" "0000000852" "00000041" "90" "1007" "0" "1007" "0" "c.1007A>C" "7" "p.(His336Pro)" "r.(?)" "" "" "" "0000000853" "00000041" "90" "1354" "0" "1354" "0" "c.1354G>T" "9" "p.(Asp452Tyr)" "r.(?)" "" "" "" "0000000854" "00000041" "90" "3611" "0" "3611" "0" "c.3611dupA" "14" "p.(Asn1204Lysfs*2)" "r.(?)" "" "" "" "0000000855" "00000041" "90" "2696" "0" "2696" "0" "c.2696delG" "14" "p.(Ser899Ilefs*6)" "r.(?)" "" "" "" "0000000856" "00000041" "90" "3762" "0" "3762" "0" "c.3762delT" "14" "p.(Asn1254Lysfs*2)" "r.(?)" "" "" "" "0000000857" "00000041" "90" "6986" "0" "6986" "0" "c.6986C>G" "26" "p.(Pro2329Arg)" "r.(?)" "" "" "" "0000000858" "00000041" "90" "2159" "0" "2159" "0" "c.2159G>T" "14" "p.(Gly720Val)" "r.(?)" "" "" "" "0000000859" "00000041" "90" "5609" "0" "5609" "0" "c.5609T>C" "17" "p.(Leu1870Pro)" "r.(?)" "" "" "" "0000000860" "00000041" "90" "6272" "0" "6272" "0" "c.6272A>C" "21" "p.(Lys2091Thr)" "r.(?)" "" "" "" "0000000861" "00000041" "90" "6429" "2" "6429" "2" "c.6429+2T>A" "22i" "p.?" "r.spl?" "" "" "" "0000000862" "00000041" "90" "5998" "1" "5998" "1" "c.5998+1G>A" "18i" "p.?" "r.spl?" "" "" "" "0000000863" "00000041" "90" "524" "0" "524" "0" "c.524A>C" "4" "p.(Tyr175Ser)" "r.(?)" "" "" "" "0000000864" "00000041" "90" "6317" "0" "6317" "0" "c.6317A>C" "22" "p.(Gln2106Pro)" "r.(?)" "" "" "" "0000000865" "00000041" "90" "6682" "0" "6682" "0" "c.6682C>T" "24" "p.(Arg2228*)" "r.(?)" "" "" "{ClinVar:10086}" "0000000866" "00000041" "30" "2383" "0" "2383" "0" "c.2383A>G" "14" "p.(Arg795Gly)" "r.(?)" "" "" "{ClinVar:368122}" "0000000867" "00000041" "90" "5941" "0" "5941" "0" "c.5941G>A" "18" "p.(Val1981Met)" "r.(?)" "" "" "" "0000000868" "00000041" "90" "1443" "0" "1443" "0" "c.1443G>A" "9" "p.(=)" "r.(=)" "" "" "" "0000000869" "00000041" "90" "1812" "0" "1812" "0" "c.1812G>C" "12" "p.(Trp604Cys)" "r.(?)" "" "" "{ClinVar:10234}" "0000000870" "00000041" "90" "3637" "0" "3637" "0" "c.3637delA" "14" "p.(Ile1213Phefs*5)" "r.(?)" "" "" "{ClinVar:10253}" "0000000871" "00000041" "90" "5689" "0" "5690" "0" "c.5689_5690delCT" "17" "p.(Leu1897Valfs*6)" "r.(?)" "" "" "" "0000000872" "00000041" "90" "554" "0" "555" "0" "c.554_555del" "4" "p.(Lys185Argfs*14)" "r.(?)" "" "" "" "0000000873" "00000041" "90" "3175" "0" "3175" "0" "c.3175delA" "14" "p.(Val1061*)" "r.(?)" "" "" "" "0000000874" "00000041" "90" "3629" "0" "3629" "0" "c.3629dupA" "14" "p.(Ile1213Asnfs*28)" "r.(?)" "" "" "" "0000000875" "00000041" "90" "4820" "0" "4820" "0" "c.4820dupA" "14" "p.(Thr1609Asnfs*4)" "r.(?)" "" "" "" "0000000876" "00000041" "90" "4946" "0" "4947" "0" "c.4946_4947del" "14" "p.(Gly1649Glufs*3)" "r.(?)" "" "" "" "0000000877" "00000041" "90" "1016" "0" "1016" "0" "c.1016T>G" "8" "p.(Met339Arg)" "r.(?)" "" "" "" "0000000878" "00000041" "90" "6857" "0" "6857" "0" "c.6857A>T" "25" "p.(Asp2286Val)" "r.(?)" "" "" "" "0000000879" "00000041" "90" "6355" "0" "6355" "0" "c.6355delC" "23" "p.(Gln2119Serfs*24)" "r.(?)" "" "" "" "0000000880" "00000041" "90" "1696" "0" "1696" "0" "c.1696C>T" "11" "p.(Leu566Phe)" "r.(?)" "" "" "" "0000000881" "00000041" "90" "3629" "0" "3629" "0" "c.3629dupA" "14" "p.(Ile1213Asnfs*28)" "r.(?)" "" "" "" "0000000882" "00000041" "90" "4156" "0" "4156" "0" "c.4156C>T" "14" "p.(Gln1386*)" "r.(?)" "" "" "" "0000000883" "00000041" "90" "274" "0" "274" "0" "c.274G>C" "3" "p.(Gly92Arg)" "r.(?)" "" "" "" "0000000884" "00000041" "90" "274" "0" "274" "0" "c.274G>A" "3" "p.(Gly92Ser)" "r.(?)" "" "" "" "0000000885" "00000041" "90" "787" "1" "787" "1" "c.787+1G>A" "6i" "p.?" "r.spl?" "" "" "" "0000000886" "00000041" "90" "1171" "0" "1171" "0" "c.1171C>T" "8" "p.(Arg391Cys)" "r.(?)" "" "" "{ClinVar:10125}" "0000000887" "00000041" "90" "5879" "0" "5879" "0" "c.5879G>A" "18" "p.(Arg1960Gln)" "r.(?)" "" "" "{ClinVar:10110}" "0000000888" "00000041" "90" "6085" "0" "6085" "0" "c.6085A>T" "19" "p.(Met2029Leu)" "r.(?)" "" "" "" "0000000889" "00000041" "90" "787" "1" "787" "1" "c.787+1G>T" "6i" "p.?" "r.spl?" "" "" "" "0000000890" "00000041" "90" "5586" "2" "5586" "2" "c.5586+2T>G" "16i" "p.?" "r.spl?" "" "" "" "0000000891" "00000041" "90" "3625" "0" "3625" "0" "c.3625C>T" "14" "p.(Gln1209*)" "r.(?)" "" "" "" "0000001031" "00000041" "90" "3078" "0" "3078" "0" "c.3078A>C" "14" "p.(=)" "r.(=)" "" "" "" "0000001032" "00000041" "90" "3325" "0" "3325" "0" "c.3325C>T" "14" "p.(Gln1109*)" "r.(?)" "" "" "" "0000001033" "00000041" "10" "3864" "0" "3864" "0" "c.3864A>C" "14" "p.(=)" "r.(=)" "" "" "{ClinVar:41000}" "0000001034" "00000041" "90" "3175" "0" "3175" "0" "c.3175delA" "14" "p.(Val1061*)" "r.(?)" "" "" "" "0000001035" "00000041" "90" "3180" "0" "3180" "0" "c.3180A>T" "14" "p.(Lys1060Asn)" "r.(?)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 45 "{{screeningid}}" "{{variantid}}" "0000000193" "0000000852" "0000000193" "0000000853" "0000000193" "0000000854" "0000000193" "0000000855" "0000000193" "0000000856" "0000000193" "0000000857" "0000000193" "0000000858" "0000000193" "0000000859" "0000000193" "0000000860" "0000000193" "0000000861" "0000000193" "0000000862" "0000000193" "0000000863" "0000000193" "0000000864" "0000000193" "0000000865" "0000000193" "0000000866" "0000000193" "0000000867" "0000000193" "0000000868" "0000000193" "0000000869" "0000000193" "0000000870" "0000000193" "0000000871" "0000000193" "0000000872" "0000000193" "0000000873" "0000000193" "0000000874" "0000000193" "0000000875" "0000000194" "0000000876" "0000000194" "0000000877" "0000000194" "0000000878" "0000000194" "0000000879" "0000000194" "0000000880" "0000000194" "0000000881" "0000000194" "0000000882" "0000000194" "0000000883" "0000000194" "0000000884" "0000000194" "0000000885" "0000000194" "0000000886" "0000000194" "0000000887" "0000000194" "0000000888" "0000000195" "0000000889" "0000000195" "0000000890" "0000000196" "0000000891" "0000000217" "0000001031" "0000000217" "0000001032" "0000000217" "0000001033" "0000000217" "0000001034" "0000000217" "0000001035"