### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDLIM5) # 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}}" "PDLIM5" "PDZ and LIM domain 5" "4" "q22.3" "unknown" "NC_000004.12" "UD_144430720957" "" "" "" "1" "17468" "10611" "605904" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2021-01-20 11:25:54" "" "" "00005" "2021-09-02 10:38:46" ## 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}}" "00000108" "PDLIM5" "transcript variant 1" "001" "NM_006457.4" "" "NP_006448.4" "" "" "" "-181" "5951" "1791" "94451857" "94668227" "00001" "2021-01-20 11:25:54" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00058" "-" "Schizophrenia disease" "" "" "" "" "" "00001" "2021-01-18 10:23:47" "" "" "00060" "BPD" "Bipolar disorder" "" "" "" "" "" "00001" "2021-01-20 11:25:05" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDLIM5" "00060" ## Individuals ## Do not remove or alter this header ## ## Count = 13 "{{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}}" "00000365" "" "" "" "1" "" "00002" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "Malay" "" "" "00000366" "" "" "" "1" "" "00002" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "Chinese" "" "" "00000367" "" "" "" "1" "" "00002" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "Indian" "" "" "00000368" "" "" "" "1" "" "00002" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "Malay" "" "" "00000369" "" "" "" "1" "" "00002" "{DOI:Mohd Aizat Zain et al. (2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "Malay" "" "" "00000370" "" "" "" "1" "" "00002" "{DOI:Mohd Aizat Zain et al. (2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "Chinese" "" "" "00000371" "" "" "" "1" "" "00002" "{DOI:Mohd Aizat Zain et al. (2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "Indian" "" "" "00000372" "" "" "" "1" "" "00002" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "Chinese" "" "" "00000373" "" "" "" "1" "" "00002" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "Indian" "" "" "00000374" "" "" "" "1" "" "00002" "{PMID:Mohd Aizat Zain et al. (2012):23031404}" "" "" "Malaysia" "" "" "" "00000444" "" "" "" "1" "" "00004" "{DOI:Mohd Aizat Zain et al.(2018):10.31117/neuroscirn.v1i1.9}" "" "" "Malaysia" "" "" "" "00000445" "" "" "" "1" "" "00004" "{PMID:Mohd A Zain et al.(2013):24064681}" "" "" "Malaysia" "" "" "" "00000446" "" "" "" "1" "" "00004" "{PMID:Mohd A Zain et al. (2013):24064681}" "" "" "Malaysia" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 13 "{{individualid}}" "{{diseaseid}}" "00000365" "00058" "00000366" "00058" "00000367" "00058" "00000368" "00060" "00000369" "00060" "00000370" "00060" "00000371" "00060" "00000372" "00060" "00000373" "00060" "00000374" "00060" "00000444" "00060" "00000445" "00058" "00000446" "00060" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00058, 00060 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 13 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000379" "00000365" "1" "00002" "00002" "2021-01-20 11:40:58" "" "" "arraySNP" "DNA" "0000000380" "00000366" "1" "00002" "00002" "2021-01-20 11:47:13" "" "" "arraySNP" "DNA" "0000000381" "00000367" "1" "00002" "00002" "2021-01-20 11:59:48" "" "" "arraySNP" "DNA" "0000000382" "00000368" "1" "00002" "00002" "2021-01-20 12:15:06" "" "" "arraySNP" "DNA" "0000000383" "00000369" "1" "00002" "00002" "2021-01-20 12:37:46" "" "" "PCR" "DNA" "0000000384" "00000370" "1" "00002" "00002" "2021-01-20 18:40:35" "" "" "PCR" "DNA" "0000000385" "00000371" "1" "00002" "00002" "2021-01-20 18:48:45" "" "" "PCR" "DNA" "0000000386" "00000372" "1" "00002" "00002" "2021-01-21 09:41:42" "" "" "arraySNP" "DNA" "0000000387" "00000373" "1" "00002" "00002" "2021-01-21 09:46:42" "" "" "arraySNP" "DNA" "0000000388" "00000374" "1" "00002" "00002" "2021-01-21 10:01:24" "" "" "PCR" "DNA" "0000000481" "00000444" "1" "00004" "00004" "2021-02-22 09:36:36" "" "" "PCR" "DNA" "0000000483" "00000445" "1" "00004" "00004" "2021-02-22 10:21:51" "" "" "arraySNP" "DNA" "0000000484" "00000446" "1" "00004" "00004" "2021-02-22 10:33:15" "00004" "2021-02-22 11:11:56" "PCR" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 13 "{{screeningid}}" "{{geneid}}" "0000000379" "PDLIM5" "0000000380" "PDLIM5" "0000000381" "PDLIM5" "0000000382" "PDLIM5" "0000000383" "PDLIM5" "0000000384" "PDLIM5" "0000000385" "PDLIM5" "0000000386" "PDLIM5" "0000000387" "PDLIM5" "0000000388" "PDLIM5" "0000000481" "PDLIM5" "0000000483" "PDLIM5" "0000000484" "PDLIM5" ## 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 = 41 "{{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}}" "0000001688" "0" "90" "4" "94640308" "94640308" "subst" "0" "00002" "PDLIM5_000001" "g.94640308A>G" "130/328" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs7690296}" "" "" "rs7690296" "0000001689" "0" "90" "4" "94585691" "94585691" "subst" "0" "00002" "PDLIM5_000002" "g.94585691G>A" "34/385" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs11097431}" "" "" "rs11097431" "0000001690" "0" "90" "4" "94640308" "94640308" "subst" "0" "00002" "PDLIM5_000001" "g.94640308A>G" "187/445" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs7690296}" "" "" "rs7690296" "0000001691" "0" "90" "4" "94585691" "94585691" "subst" "0" "00002" "PDLIM5_000002" "g.94585691G>A" "45/445" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs11097431}" "" "" "rs11097431" "0000001692" "0" "90" "4" "94640308" "94640308" "subst" "0" "00002" "PDLIM5_000001" "g.94640308A>G" "115/242" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs7690296}" "" "" "rs7690296" "0000001693" "0" "90" "4" "94585691" "94585691" "subst" "0" "00002" "PDLIM5_000002" "g.94585691G>A" "27/242" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs11097431}" "" "" "rs11097431" "0000001694" "0" "90" "4" "94585691" "94585691" "subst" "0" "00002" "PDLIM5_000002" "g.94585691G>A" "62/328" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs7690296}" "" "" "rs7690296" "0000001695" "0" "90" "4" "94640308" "94640308" "subst" "0" "00002" "PDLIM5_000001" "g.94640308A>G" "11/328" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs11097431}" "" "" "rs11097431" "0000001696" "0" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "21/75" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000001697" "3" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "7/75" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000001698" "0" "90" "4" "94458590" "94458590" "subst" "0" "00002" "PDLIM5_000004" "g.94458590A>G" "19/75" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000001699" "3" "90" "4" "94458590" "94458590" "subst" "0" "00002" "PDLIM5_000004" "g.94458590A>G" "8/75" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000001700" "0" "90" "4" "94474237" "94474237" "subst" "0" "00002" "PDLIM5_000005" "g.94474237C>T" "19/75" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000001701" "3" "90" "4" "94474237" "94474237" "subst" "0" "00002" "PDLIM5_000005" "g.94474237C>T" "9/75" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000001702" "0" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "33/104" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000001703" "3" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "4/104" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000001704" "0" "90" "4" "94474237" "94474237" "subst" "0" "00002" "PDLIM5_000005" "g.94474237C>T" "26/104" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000001705" "3" "90" "4" "94474237" "94474237" "subst" "0" "00002" "PDLIM5_000005" "g.94474237C>T" "3/104" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000001706" "0" "90" "4" "94458590" "94458590" "subst" "0" "00002" "PDLIM5_000004" "g.94458590A>G" "30/104" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000001707" "3" "90" "4" "94458590" "94458590" "subst" "0" "00002" "PDLIM5_000004" "g.94458590A>G" "4/104" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000001708" "0" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "22/74" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000001709" "3" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "4/74" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000001710" "0" "90" "4" "94474237" "94474237" "subst" "0" "00002" "PDLIM5_000005" "g.94474237C>T" "21/74" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000001711" "3" "90" "4" "94474237" "94474237" "subst" "0" "00002" "PDLIM5_000005" "g.94474237C>T" "10/74" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000001712" "0" "90" "4" "94458590" "94458590" "subst" "0" "00002" "PDLIM5_000004" "g.94458590A>G" "45/74" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000001713" "3" "90" "4" "94458590" "94458590" "subst" "0" "00002" "PDLIM5_000004" "g.94458590A>G" "6/74" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000001714" "0" "90" "4" "94640308" "94640308" "subst" "0" "00002" "PDLIM5_000001" "g.94640308A>G" "77/320" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs7690296}" "" "" "rs7690296" "0000001715" "0" "90" "4" "94585691" "94585691" "subst" "0" "00002" "PDLIM5_000002" "g.94585691G>A" "24/320" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs11097431}" "" "" "rs11097431" "0000001716" "0" "90" "4" "94640308" "94640308" "subst" "0" "00002" "PDLIM5_000001" "g.94640308A>G" "88/197" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs7690296}" "" "" "rs7690296" "0000001717" "0" "90" "4" "94585691" "94585691" "subst" "0" "00002" "PDLIM5_000002" "g.94585691G>A" "9/197" "{PMID:Mohd A Zain et al. (2013):24064681}, {dbSNP:rs11097431}" "" "" "rs11097431" "0000001718" "0" "90" "4" "94435177" "94435177" "subst" "0" "00002" "PDLIM5_000006" "g.94435177G>A" "5/15" "{PMID:Mohd Aizat Zain et al. (2012):23031404}, {dbSNP:rs10008257}" "" "" "rs10008257" "0000001719" "3" "90" "4" "94435177" "94435177" "subst" "0" "00002" "PDLIM5_000006" "g.94435177G>A" "8/15" "{PMID:Mohd Aizat Zain et al. (2012):23031404}, {dbSNP:rs10008257}" "" "" "rs10008257" "0000001720" "0" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "4/15" "{PMID:Mohd Aizat Zain et al. (2012):23031404}, {dbSNP:rs2433320}" "" "" "rs2433320" "0000001721" "0" "90" "4" "94449654" "94449654" "subst" "0" "00002" "PDLIM5_000003" "g.94449654G>A" "1/15" "{PMID:Mohd Aizat Zain et al. (2012):23031404}, {dbSNP:rs2433320}" "" "" "rs2433320" "0000002083" "0" "90" "4" "94474237" "94474237" "subst" "0" "00004" "PDLIM5_000005" "g.94474237C>T" "" "{dbSNP:rs2438146}" "" "" "rs2438146" "0000002084" "0" "90" "4" "94458590" "94458590" "subst" "0" "00004" "PDLIM5_000004" "g.94458590A>G" "" "{dbSNP:rs2433322}" "" "" "rs2433322" "0000002085" "0" "90" "4" "94449654" "94449654" "subst" "0" "00004" "PDLIM5_000003" "g.94449654G>A" "" "{dbSNP:rs2433320}" "" "" "rs2433320" "0000002089" "0" "90" "4" "94640308" "94640308" "subst" "0" "00004" "PDLIM5_000001" "g.94640308A>G" "" "{PMID:Mohd A Zain et al.(2013):24064681}" "" "" "rs7690296" "0000002090" "0" "90" "4" "94640308" "94640308" "subst" "0" "00004" "PDLIM5_000001" "g.94640308A>G" "" "{PMID:Mohd A Zain et al.(2013):24064681}" "" "" "rs7690296" "0000002091" "0" "90" "4" "94585691" "94585691" "subst" "0" "00004" "PDLIM5_000002" "g.94585691G>A" "" "{PMID:Mohd A Zain et al.(2013):24064681}" "" "" "rs11097431" "0000002092" "0" "90" "4" "94585691" "94585691" "subst" "0" "00004" "PDLIM5_000002" "g.94585691G>A" "" "{PMID:Mohd A Zain et al.(2013):24064681}" "" "" "rs11097431" ## 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 PDLIM5 ## Count = 41 "{{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}}" "0000001688" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000001689" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001690" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "-" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000001691" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001692" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000001693" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001694" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001695" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000001696" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001697" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001698" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001699" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001700" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001701" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001702" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001703" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001704" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001705" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001706" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001707" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001708" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001709" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001710" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001711" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001712" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001713" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000001714" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000001715" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001716" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000001717" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001718" "00000108" "90" "-16861" "0" "-16861" "0" "c.-16861G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001719" "00000108" "90" "-16861" "0" "-16861" "0" "c.-16861G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001720" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001721" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002083" "00000108" "90" "96" "18853" "96" "18853" "c.96+18853C>T" "" "p.(=)" "r.(=)" "" "" "" "0000002084" "00000108" "90" "96" "3206" "96" "3206" "c.96+3206A>G" "" "p.(=)" "r.(=)" "" "" "" "0000002085" "00000108" "90" "-2384" "0" "-2384" "0" "c.-2384G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002089" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000002090" "00000108" "90" "1141" "0" "1141" "0" "c.1141A>G" "" "p.(Thr381Ala)" "r.(?)" "" "" "" "0000002091" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" "0000002092" "00000108" "90" "837" "0" "837" "0" "c.837G>A" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 41 "{{screeningid}}" "{{variantid}}" "0000000379" "0000001688" "0000000379" "0000001689" "0000000380" "0000001690" "0000000380" "0000001691" "0000000381" "0000001692" "0000000381" "0000001693" "0000000382" "0000001694" "0000000382" "0000001695" "0000000383" "0000001696" "0000000383" "0000001697" "0000000383" "0000001698" "0000000383" "0000001699" "0000000383" "0000001700" "0000000383" "0000001701" "0000000384" "0000001702" "0000000384" "0000001703" "0000000384" "0000001704" "0000000384" "0000001705" "0000000384" "0000001706" "0000000384" "0000001707" "0000000385" "0000001708" "0000000385" "0000001709" "0000000385" "0000001710" "0000000385" "0000001711" "0000000385" "0000001712" "0000000385" "0000001713" "0000000386" "0000001714" "0000000386" "0000001715" "0000000387" "0000001716" "0000000387" "0000001717" "0000000388" "0000001718" "0000000388" "0000001719" "0000000388" "0000001720" "0000000388" "0000001721" "0000000481" "0000002083" "0000000481" "0000002084" "0000000481" "0000002085" "0000000483" "0000002089" "0000000483" "0000002091" "0000000484" "0000002090" "0000000484" "0000002092"