### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCS1L) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "BCS1L" "BC1 (ubiquinol-cytochrome c reductase) synthesis-like" "2" "q35" "unknown" "NC_000002.11" "UD_132118419691" "" "" "http://databases.lovd.nl/shared/genes/BCS1L" "1" "1" "1020" "617" "603647" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "c" "http://mseqdr.lumc.edu/LOVD3/refseq/BCS1L_codingDNA.html" "2" "Sources: GeneDX http://www.genedx.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-06 16:34:30" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## 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}}" "{{iNote}}" "{{chrom}}" "00000012" "BCS1L" "BCS1-like (S. cerevisiae), transcript variant 1" "001" "NM_004328.4" "" "NP_004319.1" "" "" "" "-346" "1317" "1260" "219524379" "219528166" "00001" "2013-11-06 16:34:30" "" "" "" "2" "00000013" "BCS1L" "BCS1-like (S. cerevisiae), transcript variant 2" "002" "NM_001079866.1" "" "NP_001073335.1" "" "" "" "-137" "1317" "1260" "219524379" "219528166" "00001" "2013-11-06 16:34:30" "" "" "" "2" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00017" "MC3DN1" "Mitochondrial complex III deficiency, nuclear type 1, 124000 (3)" "124000" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00084" "BJS" "Bjornstad syndrome, 262000 (3)" "262000" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" "00104" "603358" "GRACILE syndrome, 603358 (3)" "603358" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "BCS1L" "00017" "BCS1L" "00084" "BCS1L" "00104" ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 88 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000863" "0" "77" "2" "219525123" "219525123" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-04-01 00:52:16" "BCS1L_000016" "g.219525123T>A" "" "{PMID:12215968:12215968}" "" "rs386833855" "subst" "0" "; clinVar;" "-6.990" "" "" "" "" "MSCV_0000863" "" "0000000864" "0" "99" "2" "219525843" "219525843" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:08:11" "BCS1L_000014" "g.219525843C>T" "" "{PMID:19508421:19508421};{PMID:12910490:12910490}" "" "rs121908575" "subst" "0" "; clinVar; Ensembl;" "5.460" "" "" "" "" "MSCV_0000864" "" "0000000865" "0" "99" "2" "219525858" "219525858" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-05-01 16:35:13" "BCS1L_000015" "g.219525858A>G" "" "{PMID:19162478:19162478}" "" "rs121908580" "subst" "0" "; clinVar; Ensembl;" "5.460" "" "" "" "" "MSCV_0000865" "" "0000000866" "0" "99" "2" "219525876" "219525876" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-20 13:49:28" "BCS1L_000012" "g.219525876C>T" "" "{PMID:12910490:12910490}" "" "rs121908576" "subst" "0" "; clinVar; Ensembl;" "2.230" "" "" "" "" "MSCV_0000866" "" "0000000867" "0" "99" "2" "219525942" "219525942" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:05:55" "BCS1L_000013" "g.219525942A>G" "" "{PMID:11528392:11528392};{PMID:12215968:12215968}" "" "rs28937590" "subst" "0" "; clinVar; Ensembl;" "5.460" "" "" "" "" "MSCV_0000867" "" "0000000868" "0" "99" "2" "219526006" "219526006" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:28" "BCS1L_000001" "g.219526006C>T" "" "{PMID:11528392:11528392}" "" "rs121908572" "subst" "0" "; clinVar; Ensembl;" "5.600" "" "" "" "" "MSCV_0000868" "" "0000000869" "0" "77" "2" "219526031" "219526031" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:29" "BCS1L_000002" "g.219526031G>T" "" "{PMID:12215968:12215968}" "" "rs386833856" "subst" "0" "; clinVar; Ensembl;" "4.530" "" "" "" "" "MSCV_0000869" "" "0000000870" "0" "77" "2" "219526239" "219526239" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-25 07:24:06" "BCS1L_000003" "g.219526239G>A" "" "{PMID:12215968:12215968}" "" "rs386833857" "subst" "0" "; clinVar; Ensembl;" "5.330" "" "" "" "" "MSCV_0000870" "" "0000000871" "0" "99" "2" "219526485" "219526485" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:30" "BCS1L_000004" "g.219526485G>C" "" "{PMID:11528392:11528392}" "" "rs121908573" "subst" "0" "; clinVar; Ensembl;" "5.330" "" "" "" "" "MSCV_0000871" "" "0000000872" "0" "99" "2" "219526568" "219526568" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:30" "BCS1L_000005" "g.219526568C>T" "" "{PMID:17403714:17403714}" "" "rs144885874" "subst" "0" "; clinVar; Ensembl;" "4.910" "" "" "" "" "MSCV_0000872" "" "0000000873" "0" "99" "2" "219526569" "219526569" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-11-09 23:19:02" "BCS1L_000006" "g.219526569G>A" "" "{PMID:9545407:9545407};{PMID:17314340:17314340}" "" "rs121908577" "subst" "0" "; clinVar; Ensembl;" "4.980" "" "" "" "" "MSCV_0000873" "" "0000000874" "0" "99" "2" "219526571" "219526571" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:32" "BCS1L_000007" "g.219526571C>T" "" "{PMID:17314340:17314340};{PMID:17403714:17403714}" "" "rs121908578" "subst" "0" "; clinVar; Ensembl;" "5.860" "" "" "" "" "MSCV_0000874" "" "0000000875" "0" "99" "2" "219527343" "219527343" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:32" "BCS1L_000008" "g.219527343G>A" "" "{PMID:11528392:11528392}" "" "rs121908571" "subst" "0" "; clinVar; Ensembl;" "5.210" "" "" "" "" "MSCV_0000875" "" "0000000876" "0" "99" "2" "219527617" "219527617" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-24 17:07:01" "BCS1L_000009" "g.219527617T>A" "" "" "" "" "subst" "0" ";" "4.940" "" "" "" "" "MSCV_0000876" "" "0000000877" "0" "77" "2" "219527696" "219527696" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:34" "BCS1L_000010" "g.219527696T>C" "" "{PMID:12215968:12215968}" "" "rs386833858" "subst" "0" "; clinVar; Ensembl;" "4.940" "" "" "" "" "MSCV_0000877" "" "0000000878" "0" "99" "2" "219527906" "219527906" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:48:34" "BCS1L_000011" "g.219527906G>A" "" "{PMID:11528392:11528392}" "" "rs121908574" "subst" "0" "; clinVar; Ensembl;" "4.250" "" "" "" "" "MSCV_0000878" "" "0000002858" "0" "99" "2" "219525813" "219525813" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2016-03-14 00:42:29" "BCS1L_000017" "g.219525813G>C" "" "{PMID:17314340:17314340}" "" "rs121908579" "subst" "0" "; clinVar; Ensembl;" "5.460" "" "" "" "" "MSCV_0002858" "" "0000019586" "0" "55" "2" "219524463" "219524463" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:04:25" "BCS1L_000044" "g.219524463G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019586" "" "0000019587" "0" "55" "2" "219524891" "219524891" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:28" "BCS1L_000040" "g.219524891T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019587" "" "0000019588" "0" "55" "2" "219524924" "219524924" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:29" "BCS1L_000041" "g.219524924T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019588" "" "0000019589" "0" "77" "2" "219525123" "219525123" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:31" "BCS1L_000016" "g.219525123T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000863" "" "0000019590" "0" "77" "2" "219525668" "219525668" "subst" "35" "0.00135783" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:34" "BCS1L_000042" "g.219525668G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019590" "" "0000019591" "0" "77" "2" "219525697" "219525697" "subst" "35" "0.00162438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-04 18:27:05" "BCS1L_000043" "g.219525697G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019591" "" "0000019592" "0" "99" "2" "219525813" "219525813" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:11:37" "BCS1L_000017" "g.219525813G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0002858" "" "0000019593" "0" "55" "2" "219525822" "219525822" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:43" "BCS1L_000038" "g.219525822C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019593" "" "0000019594" "0" "99" "2" "219525843" "219525843" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:46" "BCS1L_000014" "g.219525843C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000864" "" "0000019595" "0" "99" "2" "219525858" "219525858" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:50" "BCS1L_000015" "g.219525858A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000865" "" "0000019596" "0" "99" "2" "219525876" "219525876" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-05 14:55:55" "BCS1L_000012" "g.219525876C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000866" "" "0000019597" "0" "55" "2" "219525911" "219525911" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:44:56" "BCS1L_000039" "g.219525911C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019597" "" "0000019598" "0" "77" "2" "219525915" "219525915" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:52" "BCS1L_000031" "g.219525915C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019598" "" "0000019599" "0" "99" "2" "219525942" "219525942" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:54" "BCS1L_000013" "g.219525942A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000867" "" "0000019600" "0" "77" "2" "219525955" "219525955" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:34:56" "BCS1L_000032" "g.219525955C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019600" "" "0000019601" "0" "55" "2" "219525968" "219525968" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:06" "BCS1L_000033" "g.219525968T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019601" "" "0000019602" "0" "99" "2" "219526006" "219526006" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:08" "BCS1L_000001" "g.219526006C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000868" "" "0000019603" "0" "77" "2" "219526031" "219526031" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:11" "BCS1L_000002" "g.219526031G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000869" "" "0000019604" "0" "55" "2" "219526117" "219526117" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:15" "BCS1L_000034" "g.219526117G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019604" "" "0000019605" "0" "77" "2" "219526157" "219526157" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:18" "BCS1L_000035" "g.219526157C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019605" "" "0000019606" "0" "00" "2" "219526224" "219526224" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:21" "BCS1L_000036" "g.219526224del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019606" "" "0000019607" "0" "77" "2" "219526239" "219526239" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:24" "BCS1L_000003" "g.219526239G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000870" "" "0000019608" "0" "77" "2" "219526270" "219526270" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-08 05:35:09" "BCS1L_000037" "g.219526270T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019608" "" "0000019609" "0" "99" "2" "219526485" "219526485" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:28" "BCS1L_000004" "g.219526485G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000871" "" "0000019610" "0" "99" "2" "219526568" "219526568" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:35:30" "BCS1L_000005" "g.219526568C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000872" "" "0000019611" "0" "99" "2" "219526569" "219526569" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-05-02 11:57:52" "BCS1L_000006" "g.219526569G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000873" "" "0000019612" "0" "99" "2" "219526571" "219526571" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:24" "BCS1L_000007" "g.219526571C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000874" "" "0000019613" "0" "77" "2" "219526577" "219526577" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:26" "BCS1L_000018" "g.219526577C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019613" "" "0000019614" "0" "99" "2" "219526619" "219526619" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:28" "BCS1L_000019" "g.219526619C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019614" "" "0000019615" "0" "77" "2" "219526627" "219526628" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:30" "BCS1L_000020" "g.219526627_219526628insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019615" "" "0000019616" "0" "33" "2" "219526649" "219526649" "subst" "35" "0.06497" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:32" "BCS1L_000021" "g.219526649G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019616" "" "0000019617" "0" "77" "2" "219526677" "219526677" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:48" "BCS1L_000022" "g.219526677G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019617" "" "0000019618" "0" "55" "2" "219527281" "219527281" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:50" "BCS1L_000023" "g.219527281C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019618" "" "0000019619" "0" "77" "2" "219527335" "219527335" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:52" "BCS1L_000024" "g.219527335G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019619" "" "0000019620" "0" "99" "2" "219527343" "219527343" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:54" "BCS1L_000008" "g.219527343G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000875" "" "0000019621" "0" "77" "2" "219527384" "219527384" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:06:58" "BCS1L_000025" "g.219527384C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019621" "" "0000019622" "0" "99" "2" "219527403" "219527403" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:00" "BCS1L_000026" "g.219527403G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019622" "" "0000019623" "0" "99" "2" "219527617" "219527617" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:02" "BCS1L_000009" "g.219527617T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000876" "" "0000019624" "0" "00" "2" "219527686" "219527687" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:04" "BCS1L_000027" "g.219527686_219527687insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019624" "" "0000019625" "0" "77" "2" "219527696" "219527696" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:06" "BCS1L_000010" "g.219527696T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000877" "" "0000019626" "0" "33" "2" "219527712" "219527712" "subst" "35" "0.0555897" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:08" "BCS1L_000028" "g.219527712C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019626" "" "0000019627" "0" "33" "2" "219527866" "219527866" "subst" "35" "0.16577" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:10" "BCS1L_000029" "g.219527866T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019627" "" "0000019628" "0" "99" "2" "219527906" "219527906" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:12" "BCS1L_000011" "g.219527906G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000878" "" "0000019629" "0" "77" "2" "219528092" "219528093" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:07:14" "BCS1L_000030" "g.219528092_219528093del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019629" "" "0000025890" "0" "00" "2" "219524467" "219524467" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:32:26" "BCS1L_000069" "g.219524467G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025891" "0" "00" "2" "219524467" "219524467" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:32:35" "BCS1L_000070" "g.219524467G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025892" "0" "00" "2" "219524468" "219524468" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:32:43" "BCS1L_000071" "g.219524468T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025893" "0" "00" "2" "219524871" "219524871" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-08-27 01:44:00" "BCS1L_000068" "g.219524871A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025894" "0" "00" "2" "219525763" "219525763" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:44:20" "BCS1L_000066" "g.219525763del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025895" "0" "00" "2" "219525844" "219525844" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:44:29" "BCS1L_000067" "g.219525844G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025896" "0" "00" "2" "219525927" "219525927" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:08:32" "BCS1L_000045" "g.219525927C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025897" "0" "00" "2" "219525963" "219525965" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:08:41" "BCS1L_000046" "g.219525963_219525965del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025898" "0" "00" "2" "219525978" "219525978" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:08:49" "BCS1L_000047" "g.219525978C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025899" "0" "00" "2" "219525979" "219525979" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:08:57" "BCS1L_000048" "g.219525979G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025900" "0" "00" "2" "219526000" "219526002" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:09:05" "BCS1L_000049" "g.219526000_219526002del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025901" "0" "00" "2" "219526179" "219526180" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:09:27" "BCS1L_000050" "g.219526179_219526180insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025902" "0" "00" "2" "219526221" "219526221" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-03-12 20:48:33" "BCS1L_000051" "g.219526221C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025903" "0" "00" "2" "219526269" "219526269" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:09:44" "BCS1L_000052" "g.219526269G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025904" "0" "00" "2" "219526493" "219526493" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:09:52" "BCS1L_000053" "g.219526493del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025905" "0" "00" "2" "219526553" "219526553" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:00" "BCS1L_000054" "g.219526553del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025906" "0" "00" "2" "219526625" "219526633" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:08" "BCS1L_000055" "g.219526625_219526633del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025907" "0" "00" "2" "219526967" "219526967" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-26 08:20:27" "BCS1L_000056" "g.219526967G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025908" "0" "00" "2" "219527284" "219527284" "del" "35" "0.0000798722" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:25" "BCS1L_000057" "g.219527284del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025909" "0" "00" "2" "219527331" "219527331" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:33" "BCS1L_000058" "g.219527331del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025910" "0" "00" "2" "219527403" "219527403" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:41" "BCS1L_000059" "g.219527403G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025911" "0" "00" "2" "219527403" "219527404" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:49" "BCS1L_000060" "g.219527403_219527404insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025912" "0" "00" "2" "219527722" "219527725" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:10:58" "BCS1L_000061" "g.219527722_219527725del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025913" "0" "00" "2" "219527885" "219527885" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:11:06" "BCS1L_000062" "g.219527885C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025914" "0" "00" "2" "219527896" "219527898" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:11:14" "BCS1L_000063" "g.219527896_219527898del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025915" "0" "00" "2" "219527976" "219527976" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:11:22" "BCS1L_000064" "g.219527976T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025916" "0" "00" "2" "219528042" "219528043" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:11:31" "BCS1L_000065" "g.219528042_219528043insCTA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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. ## Count = 176 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000863" "00000012" "77" "-50" "155" "-50" "155" "c.-50+155T>A" "" "p.?" "r.?" "" "" "" "" "" "-" "0000000863" "00000013" "77" "-49" "-539" "-49" "-539" "c.-49-539T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000864" "00000012" "99" "133" "0" "133" "0" "c.133C>T" "3/4" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000864" "00000013" "99" "133" "0" "133" "0" "c.133C>T" "3/4" "p.(Arg45Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000865" "00000012" "99" "148" "0" "148" "0" "c.148A>G" "3/4" "p.?" "r.?" "probably_damaging(0.976)" "" "missense_variant" "" "" "tolerated(0.07)" "0000000865" "00000013" "99" "148" "0" "148" "0" "c.148A>G" "3/4" "p.(Thr50Ala)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "tolerated(0.07)" "0000000866" "00000012" "99" "166" "0" "166" "0" "c.166C>T" "3/4" "p.?" "r.?" "-" "" "stop_gained" "" "" "-" "0000000866" "00000013" "99" "166" "0" "166" "0" "c.166C>T" "3/4" "p.(Arg56*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000867" "00000012" "99" "232" "0" "232" "0" "c.232A>G" "3/4" "p.?" "r.?" "benign(0.364)" "" "missense_variant" "" "" "deleterious(0)" "0000000867" "00000013" "99" "232" "0" "232" "0" "c.232A>G" "3/4" "p.(Ser78Gly)" "r.(?)" "benign(0.364)" "" "missense_variant" "" "" "deleterious(0)" "0000000868" "00000012" "99" "296" "0" "296" "0" "c.296C>T" "3/4" "p.?" "r.?" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000868" "00000013" "99" "296" "0" "296" "0" "c.296C>T" "3/4" "p.(Pro99Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000869" "00000012" "77" "320" "1" "320" "1" "c.320+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000869" "00000013" "77" "320" "1" "320" "1" "c.320+1G>T" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000870" "00000012" "77" "431" "0" "431" "0" "c.431G>A" "4/9" "p.?" "r.?" "benign(0.427)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000870" "00000013" "77" "431" "0" "431" "0" "c.431G>A" "4/9" "p.(Arg144Gln)" "r.(?)" "benign(0.427)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000871" "00000012" "99" "464" "0" "464" "0" "c.464G>C" "5/9" "p.?" "r.?" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000000871" "00000013" "99" "464" "0" "464" "0" "c.464G>C" "5/9" "p.(Arg155Pro)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000000872" "00000012" "99" "547" "0" "547" "0" "c.547C>T" "5/9" "p.?" "r.?" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000872" "00000013" "99" "547" "0" "547" "0" "c.547C>T" "5/9" "p.(Arg183Cys)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000873" "00000012" "99" "548" "0" "548" "0" "c.548G>A" "5/9" "p.?" "r.?" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000000873" "00000013" "99" "548" "0" "548" "0" "c.548G>A" "5/9" "p.(Arg183His)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000000874" "00000012" "99" "550" "0" "550" "0" "c.550C>T" "5/9" "p.?" "r.?" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000874" "00000013" "99" "550" "0" "550" "0" "c.550C>T" "5/9" "p.(Arg184Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000875" "00000012" "99" "830" "0" "830" "0" "c.830G>A" "7/9" "p.?" "r.?" "probably_damaging(0.97)" "" "missense_variant" "" "" "deleterious(0)" "0000000875" "00000013" "99" "830" "0" "830" "0" "c.830G>A" "7/9" "p.(Ser277Asn)" "r.(?)" "probably_damaging(0.97)" "" "missense_variant" "" "" "deleterious(0)" "0000000876" "00000012" "55" "901" "0" "901" "0" "c.901T>A" "8/9" "p.?" "r.?" "probably_damaging(0.936)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000876" "00000013" "55" "901" "0" "901" "0" "c.901T>A" "8/9" "p.(Tyr301Asn)" "r.(?)" "probably_damaging(0.936)" "" "missense_variant" "" "" "deleterious(0.03)" "0000000877" "00000012" "77" "980" "0" "980" "0" "c.980T>C" "8/9" "p.?" "r.?" "possibly_damaging(0.794)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000877" "00000013" "77" "980" "0" "980" "0" "c.980T>C" "8/9" "p.(Val327Ala)" "r.(?)" "possibly_damaging(0.794)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000878" "00000012" "99" "1057" "0" "1057" "0" "c.1057G>A" "9/9" "p.?" "r.?" "possibly_damaging(0.603)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000878" "00000013" "99" "1057" "0" "1057" "0" "c.1057G>A" "9/9" "p.(Val353Met)" "r.(?)" "possibly_damaging(0.603)" "" "missense_variant" "" "" "deleterious(0.04)" "0000002858" "00000012" "99" "103" "0" "103" "0" "c.103G>C" "3/4" "p.?" "r.?" "probably_damaging(0.973)" "" "missense_variant" "" "" "deleterious(0.01)" "0000002858" "00000013" "99" "103" "0" "103" "0" "c.103G>C" "3/4" "p.(Gly35Arg)" "r.(?)" "probably_damaging(0.973)" "" "missense_variant" "" "" "deleterious(0.01)" "0000019586" "00000012" "00" "-262" "0" "-262" "0" "c.-262G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019586" "00000013" "00" "-53" "0" "-53" "0" "c.-53G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019587" "00000012" "00" "-127" "0" "-127" "0" "c.-127T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019587" "00000013" "00" "-50" "425" "-50" "425" "c.-50+425T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019588" "00000012" "00" "-94" "0" "-94" "0" "c.-94T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019588" "00000013" "00" "-50" "458" "-50" "458" "c.-50+458T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019589" "00000012" "00" "-50" "155" "-50" "155" "c.-50+155T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019589" "00000013" "00" "-49" "-539" "-49" "-539" "c.-49-539T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019590" "00000012" "00" "-43" "0" "-43" "0" "c.-43G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019590" "00000013" "00" "-43" "0" "-43" "0" "c.-43G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019591" "00000012" "00" "-14" "0" "-14" "0" "c.-14G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019591" "00000013" "00" "-14" "0" "-14" "0" "c.-14G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019592" "00000012" "00" "103" "0" "103" "0" "c.103G>C" "" "p.(Gly35Arg)" "r.(?)" "" "" "" "" "" "-" "0000019592" "00000013" "00" "103" "0" "103" "0" "c.103G>C" "" "p.(Gly35Arg)" "r.(?)" "" "" "" "" "" "-" "0000019593" "00000012" "00" "112" "0" "112" "0" "c.112C>G" "" "p.(Leu38Val)" "r.(?)" "" "" "" "" "" "-" "0000019593" "00000013" "00" "112" "0" "112" "0" "c.112C>G" "" "p.(Leu38Val)" "r.(?)" "" "" "" "" "" "-" "0000019594" "00000012" "00" "133" "0" "133" "0" "c.133C>T" "" "p.(Arg45Cys)" "r.(?)" "" "" "" "" "" "-" "0000019594" "00000013" "00" "133" "0" "133" "0" "c.133C>T" "" "p.(Arg45Cys)" "r.(?)" "" "" "" "" "" "-" "0000019595" "00000012" "00" "148" "0" "148" "0" "c.148A>G" "" "p.(Thr50Ala)" "r.(?)" "" "" "" "" "" "-" "0000019595" "00000013" "00" "148" "0" "148" "0" "c.148A>G" "" "p.(Thr50Ala)" "r.(?)" "" "" "" "" "" "-" "0000019596" "00000012" "00" "166" "0" "166" "0" "c.166C>T" "" "p.(Arg56*)" "r.(?)" "" "" "" "" "" "-" "0000019596" "00000013" "00" "166" "0" "166" "0" "c.166C>T" "" "p.(Arg56*)" "r.(?)" "" "" "" "" "" "-" "0000019597" "00000012" "00" "201" "0" "201" "0" "c.201C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019597" "00000013" "00" "201" "0" "201" "0" "c.201C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019598" "00000012" "00" "205" "0" "205" "0" "c.205C>T" "" "p.(Arg69Cys)" "r.(?)" "" "" "" "" "" "-" "0000019598" "00000013" "00" "205" "0" "205" "0" "c.205C>T" "" "p.(Arg69Cys)" "r.(?)" "" "" "" "" "" "-" "0000019599" "00000012" "00" "232" "0" "232" "0" "c.232A>G" "" "p.(Ser78Gly)" "r.(?)" "" "" "" "" "" "-" "0000019599" "00000013" "00" "232" "0" "232" "0" "c.232A>G" "" "p.(Ser78Gly)" "r.(?)" "" "" "" "" "" "-" "0000019600" "00000012" "00" "245" "0" "245" "0" "c.245C>A" "" "p.(Ser82*)" "r.(?)" "" "" "" "" "" "-" "0000019600" "00000013" "00" "245" "0" "245" "0" "c.245C>A" "" "p.(Ser82*)" "r.(?)" "" "" "" "" "" "-" "0000019601" "00000012" "00" "258" "0" "258" "0" "c.258T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019601" "00000013" "00" "258" "0" "258" "0" "c.258T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019602" "00000012" "00" "296" "0" "296" "0" "c.296C>T" "" "p.(Pro99Leu)" "r.(?)" "" "" "" "" "" "-" "0000019602" "00000013" "00" "296" "0" "296" "0" "c.296C>T" "" "p.(Pro99Leu)" "r.(?)" "" "" "" "" "" "-" "0000019603" "00000012" "00" "320" "1" "320" "1" "c.320+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019603" "00000013" "00" "320" "1" "320" "1" "c.320+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019604" "00000012" "00" "321" "-12" "321" "-12" "c.321-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019604" "00000013" "00" "321" "-12" "321" "-12" "c.321-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019605" "00000012" "00" "349" "0" "349" "0" "c.349C>T" "" "p.(Arg117*)" "r.(?)" "" "" "" "" "" "-" "0000019605" "00000013" "00" "349" "0" "349" "0" "c.349C>T" "" "p.(Arg117*)" "r.(?)" "" "" "" "" "" "-" "0000019606" "00000012" "00" "416" "0" "416" "0" "c.416del" "" "p.(Leu140Trpfs*18)" "r.(?)" "" "" "" "" "" "-" "0000019606" "00000013" "00" "416" "0" "416" "0" "c.416del" "" "p.(Leu140Trpfs*18)" "r.(?)" "" "" "" "" "" "-" "0000019607" "00000012" "00" "431" "0" "431" "0" "c.431G>A" "" "p.(Arg144Gln)" "r.(?)" "" "" "" "" "" "-" "0000019607" "00000013" "00" "431" "0" "431" "0" "c.431G>A" "" "p.(Arg144Gln)" "r.(?)" "" "" "" "" "" "-" "0000019608" "00000012" "00" "460" "2" "460" "2" "c.460+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019608" "00000013" "00" "460" "2" "460" "2" "c.460+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019609" "00000012" "00" "464" "0" "464" "0" "c.464G>C" "" "p.(Arg155Pro)" "r.(?)" "" "" "" "" "" "-" "0000019609" "00000013" "00" "464" "0" "464" "0" "c.464G>C" "" "p.(Arg155Pro)" "r.(?)" "" "" "" "" "" "-" "0000019610" "00000012" "00" "547" "0" "547" "0" "c.547C>T" "" "p.(Arg183Cys)" "r.(?)" "" "" "" "" "" "-" "0000019610" "00000013" "00" "547" "0" "547" "0" "c.547C>T" "" "p.(Arg183Cys)" "r.(?)" "" "" "" "" "" "-" "0000019611" "00000012" "00" "548" "0" "548" "0" "c.548G>A" "" "p.(Arg183His)" "r.(?)" "" "" "" "" "" "-" "0000019611" "00000013" "00" "548" "0" "548" "0" "c.548G>A" "" "p.(Arg183His)" "r.(?)" "" "" "" "" "" "-" "0000019612" "00000012" "00" "550" "0" "550" "0" "c.550C>T" "" "p.(Arg184Cys)" "r.(?)" "" "" "" "" "" "-" "0000019612" "00000013" "00" "550" "0" "550" "0" "c.550C>T" "" "p.(Arg184Cys)" "r.(?)" "" "" "" "" "" "-" "0000019613" "00000012" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Arg186*)" "r.(?)" "" "" "" "" "" "-" "0000019613" "00000013" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Arg186*)" "r.(?)" "" "" "" "" "" "-" "0000019614" "00000012" "00" "598" "0" "598" "0" "c.598C>T" "" "p.(Arg200*)" "r.(?)" "" "" "" "" "" "-" "0000019614" "00000013" "00" "598" "0" "598" "0" "c.598C>T" "" "p.(Arg200*)" "r.(?)" "" "" "" "" "" "-" "0000019615" "00000012" "00" "606" "0" "607" "0" "c.606_607insA" "" "p.(Arg203Lysfs*9)" "r.(?)" "" "" "" "" "" "-" "0000019615" "00000013" "00" "606" "0" "607" "0" "c.606_607insA" "" "p.(Arg203Lysfs*9)" "r.(?)" "" "" "" "" "" "-" "0000019616" "00000012" "00" "628" "0" "628" "0" "c.628G>A" "" "p.(Asp210Asn)" "r.(?)" "" "" "" "" "" "-" "0000019616" "00000013" "00" "628" "0" "628" "0" "c.628G>A" "" "p.(Asp210Asn)" "r.(?)" "" "" "" "" "" "-" "0000019617" "00000012" "00" "655" "1" "655" "1" "c.655+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019617" "00000013" "00" "655" "1" "655" "1" "c.655+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019618" "00000012" "00" "768" "0" "768" "0" "c.768C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019618" "00000013" "00" "768" "0" "768" "0" "c.768C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019619" "00000012" "00" "822" "0" "822" "0" "c.822G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019619" "00000013" "00" "822" "0" "822" "0" "c.822G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019620" "00000012" "00" "830" "0" "830" "0" "c.830G>A" "" "p.(Ser277Asn)" "r.(?)" "" "" "" "" "" "-" "0000019620" "00000013" "00" "830" "0" "830" "0" "c.830G>A" "" "p.(Ser277Asn)" "r.(?)" "" "" "" "" "" "-" "0000019621" "00000012" "00" "871" "0" "871" "0" "c.871C>T" "" "p.(Arg291*)" "r.(?)" "" "" "" "" "" "-" "0000019621" "00000013" "00" "871" "0" "871" "0" "c.871C>T" "" "p.(Arg291*)" "r.(?)" "" "" "" "" "" "-" "0000019622" "00000012" "00" "889" "1" "889" "1" "c.889+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019622" "00000013" "00" "889" "1" "889" "1" "c.889+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019623" "00000012" "00" "901" "0" "901" "0" "c.901T>A" "" "p.(Tyr301Asn)" "r.(?)" "" "" "" "" "" "-" "0000019623" "00000013" "00" "901" "0" "901" "0" "c.901T>A" "" "p.(Tyr301Asn)" "r.(?)" "" "" "" "" "" "-" "0000019624" "00000012" "00" "970" "0" "971" "0" "c.970_971insC" "" "p.(Arg325Profs*11)" "r.(?)" "" "" "" "" "" "-" "0000019624" "00000013" "00" "970" "0" "971" "0" "c.970_971insC" "" "p.(Arg325Profs*11)" "r.(?)" "" "" "" "" "" "-" "0000019625" "00000012" "00" "980" "0" "980" "0" "c.980T>C" "" "p.(Val327Ala)" "r.(?)" "" "" "" "" "" "-" "0000019625" "00000013" "00" "980" "0" "980" "0" "c.980T>C" "" "p.(Val327Ala)" "r.(?)" "" "" "" "" "" "-" "0000019626" "00000012" "00" "996" "0" "996" "0" "c.996C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019626" "00000013" "00" "996" "0" "996" "0" "c.996C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019627" "00000012" "00" "1017" "0" "1017" "0" "c.1017T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019627" "00000013" "00" "1017" "0" "1017" "0" "c.1017T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019628" "00000012" "00" "1057" "0" "1057" "0" "c.1057G>A" "" "p.(Val353Met)" "r.(?)" "" "" "" "" "" "-" "0000019628" "00000013" "00" "1057" "0" "1057" "0" "c.1057G>A" "" "p.(Val353Met)" "r.(?)" "" "" "" "" "" "-" "0000019629" "00000012" "00" "1243" "0" "1244" "0" "c.1243_1244del" "" "p.(Glu415Valfs*?)" "r.(?)" "" "" "" "" "" "-" "0000019629" "00000013" "00" "1243" "0" "1244" "0" "c.1243_1244del" "" "p.(Glu415Valfs*?)" "r.(?)" "" "" "" "" "" "-" "0000025890" "00000012" "00" "-259" "1" "-259" "1" "c.-259+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025890" "00000013" "00" "-50" "1" "-50" "1" "c.-50+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025891" "00000012" "00" "-259" "1" "-259" "1" "c.-259+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025891" "00000013" "00" "-50" "1" "-50" "1" "c.-50+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025892" "00000012" "00" "-259" "2" "-259" "2" "c.-259+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025892" "00000013" "00" "-50" "2" "-50" "2" "c.-50+2T>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025893" "00000012" "00" "-147" "0" "-147" "0" "c.-147A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025893" "00000013" "00" "-50" "405" "-50" "405" "c.-50+405A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025894" "00000012" "00" "53" "0" "53" "0" "c.53del" "" "p.(Ala18Valfs*31)" "r.(?)" "" "" "" "" "" "-" "0000025894" "00000013" "00" "53" "0" "53" "0" "c.53del" "" "p.(Ala18Valfs*31)" "r.(?)" "" "" "" "" "" "-" "0000025895" "00000012" "00" "134" "0" "134" "0" "c.134G>A" "" "p.(Arg45His)" "r.(?)" "" "" "" "" "" "-" "0000025895" "00000013" "00" "134" "0" "134" "0" "c.134G>A" "" "p.(Arg45His)" "r.(?)" "" "" "" "" "" "-" "0000025896" "00000012" "00" "217" "0" "217" "0" "c.217C>T" "" "p.(Arg73Cys)" "r.(?)" "" "" "" "" "" "-" "0000025896" "00000013" "00" "217" "0" "217" "0" "c.217C>T" "" "p.(Arg73Cys)" "r.(?)" "" "" "" "" "" "-" "0000025897" "00000012" "00" "253" "0" "255" "0" "c.253_255del" "" "p.(Gln85del)" "r.(?)" "" "" "" "" "" "-" "0000025897" "00000013" "00" "253" "0" "255" "0" "c.253_255del" "" "p.(Gln85del)" "r.(?)" "" "" "" "" "" "-" "0000025898" "00000012" "00" "268" "0" "268" "0" "c.268C>T" "" "p.(Arg90Cys)" "r.(?)" "" "" "" "" "" "-" "0000025898" "00000013" "00" "268" "0" "268" "0" "c.268C>T" "" "p.(Arg90Cys)" "r.(?)" "" "" "" "" "" "-" "0000025899" "00000012" "00" "269" "0" "269" "0" "c.269G>A" "" "p.(Arg90His)" "r.(?)" "" "" "" "" "" "-" "0000025899" "00000013" "00" "269" "0" "269" "0" "c.269G>A" "" "p.(Arg90His)" "r.(?)" "" "" "" "" "" "-" "0000025900" "00000012" "00" "290" "0" "292" "0" "c.290_292del" "" "p.(Val98del)" "r.(?)" "" "" "" "" "" "-" "0000025900" "00000013" "00" "290" "0" "292" "0" "c.290_292del" "" "p.(Val98del)" "r.(?)" "" "" "" "" "" "-" "0000025901" "00000012" "00" "371" "0" "372" "0" "c.371_372insA" "" "p.(Asp125Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000025901" "00000013" "00" "371" "0" "372" "0" "c.371_372insA" "" "p.(Asp125Argfs*19)" "r.(?)" "" "" "" "" "" "-" "0000025902" "00000012" "00" "413" "0" "413" "0" "c.413C>T" "" "p.(Thr138Met)" "r.(?)" "" "" "" "" "" "-" "0000025902" "00000013" "00" "413" "0" "413" "0" "c.413C>T" "" "p.(Thr138Met)" "r.(?)" "" "" "" "" "" "-" "0000025903" "00000012" "00" "460" "1" "460" "1" "c.460+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025903" "00000013" "00" "460" "1" "460" "1" "c.460+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025904" "00000012" "00" "472" "0" "472" "0" "c.472del" "" "p.(Ala158Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000025904" "00000013" "00" "472" "0" "472" "0" "c.472del" "" "p.(Ala158Profs*10)" "r.(?)" "" "" "" "" "" "-" "0000025905" "00000012" "00" "532" "0" "532" "0" "c.532del" "" "p.(Phe179Leufs*10)" "r.(?)" "" "" "" "" "" "-" "0000025905" "00000013" "00" "532" "0" "532" "0" "c.532del" "" "p.(Phe179Leufs*10)" "r.(?)" "" "" "" "" "" "-" "0000025906" "00000012" "00" "604" "0" "612" "0" "c.604_612del" "" "p.(Arg203_Val205del)" "r.(?)" "" "" "" "" "" "-" "0000025906" "00000013" "00" "604" "0" "612" "0" "c.604_612del" "" "p.(Arg203_Val205del)" "r.(?)" "" "" "" "" "" "-" "0000025907" "00000012" "00" "703" "0" "703" "0" "c.703G>A" "" "p.(Gly235Arg)" "r.(?)" "" "" "" "" "" "-" "0000025907" "00000013" "00" "703" "0" "703" "0" "c.703G>A" "" "p.(Gly235Arg)" "r.(?)" "" "" "" "" "" "-" "0000025908" "00000012" "00" "771" "0" "771" "0" "c.771del" "" "p.(Asp258Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000025908" "00000013" "00" "771" "0" "771" "0" "c.771del" "" "p.(Asp258Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000025909" "00000012" "00" "818" "0" "818" "0" "c.818del" "" "p.(Pro274Argfs*26)" "r.(?)" "" "" "" "" "" "-" "0000025909" "00000013" "00" "818" "0" "818" "0" "c.818del" "" "p.(Pro274Argfs*26)" "r.(?)" "" "" "" "" "" "-" "0000025910" "00000012" "00" "889" "1" "889" "1" "c.889+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025910" "00000013" "00" "889" "1" "889" "1" "c.889+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025911" "00000012" "00" "889" "1" "889" "2" "c.889+1_889+2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025911" "00000013" "00" "889" "1" "889" "2" "c.889+1_889+2insT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025912" "00000012" "00" "1006" "0" "1007" "2" "c.1006_1007+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025912" "00000013" "00" "1006" "0" "1007" "2" "c.1006_1007+2del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025913" "00000012" "00" "1036" "0" "1036" "0" "c.1036C>T" "" "p.(Arg346*)" "r.(?)" "" "" "" "" "" "-" "0000025913" "00000013" "00" "1036" "0" "1036" "0" "c.1036C>T" "" "p.(Arg346*)" "r.(?)" "" "" "" "" "" "-" "0000025914" "00000012" "00" "1047" "0" "1049" "0" "c.1047_1049del" "" "p.(Lys350del)" "r.(?)" "" "" "" "" "" "-" "0000025914" "00000013" "00" "1047" "0" "1049" "0" "c.1047_1049del" "" "p.(Lys350del)" "r.(?)" "" "" "" "" "" "-" "0000025915" "00000012" "00" "1127" "0" "1127" "0" "c.1127T>A" "" "p.(Leu376*)" "r.(?)" "" "" "" "" "" "-" "0000025915" "00000013" "00" "1127" "0" "1127" "0" "c.1127T>A" "" "p.(Leu376*)" "r.(?)" "" "" "" "" "" "-" "0000025916" "00000012" "00" "1193" "0" "1194" "0" "c.1193_1194insCTA" "" "p.(Tyr399dup)" "r.(?)" "" "" "" "" "" "-" "0000025916" "00000013" "00" "1193" "0" "1194" "0" "c.1193_1194insCTA" "" "p.(Tyr399dup)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0