### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDHA1) # 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}}" "PDHA1" "pyruvate dehydrogenase (lipoamide) alpha 1" "X" "p22.1" "unknown" "NC_000023.10" "UD_132085418848" "" "" "" "1" "1" "8806" "5160" "300502" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "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 = 4 "{{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}}" "00000245" "PDHA1" "transcript variant 2" "001" "NM_001173454.1" "" "NP_001166925.1" "" "" "" "-145" "3341" "1287" "19362011" "19379825" "00001" "2013-11-07 13:57:41" "" "" "" "X" "00000246" "PDHA1" "transcript variant 3" "002" "NM_001173455.1" "" "NP_001166926.1" "" "" "" "-145" "3248" "1194" "19362011" "19379825" "00001" "2013-11-07 13:57:41" "" "" "" "X" "00000247" "PDHA1" "transcript variant 1" "003" "NM_000284.3" "" "NP_000275.1" "" "" "" "-145" "3227" "1173" "19362011" "19379825" "00001" "2013-11-07 13:57:41" "" "" "" "X" "00000248" "PDHA1" "transcript variant 4" "004" "NM_001173456.1" "" "NP_001166927.1" "" "" "" "-145" "3134" "1080" "19362011" "19379825" "00001" "2013-11-07 13:57:41" "" "" "" "X" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00390" "308930" "Leigh syndrome, X-linked, 308930 (3)" "308930" "" "" "" "00001" "2013-12-10 14:31:00" "" "" "GTR C0751651" "00442" "PDHAD" "PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY; PDHAD" "312170" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "PDHA1" "00390" "PDHA1" "00442" ## 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 = 58 "{{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}}" "0000001523" "0" "99" "X" "19362184" "19362184" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-06 18:08:40" "PDHA1_000013" "g.19362184G>C" "" "{PMID:7573035:7573035}" "" "rs137853257" "subst" "0" "; clinvar; ensembl;" "3.150" "" "" "" "" "MSCV_0001523" "" "0000001524" "0" "00" "X" "19373476" "19373476" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:07:23" "PDHA1_000014" "g.19373476T>A" "" "" "" "NA" "subst" "0" ";" "5.760" "" "" "" "" "MSCV_0001524" "" "0000001525" "0" "99" "X" "19373478" "19373478" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-02 06:20:01" "PDHA1_000009" "g.19373478C>G" "" "{PMID:12379317:12379317};{PMID:8199595:8199595}" "" "rs137853254" "subst" "0" "; clinvar; ensembl;" "-4.830" "" "" "" "" "MSCV_0001525" "" "0000001526" "0" "99" "X" "19373511" "19373511" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 12:29:30" "PDHA1_000010" "g.19373511A>C" "" "{PMID:12379317:12379317}" "" "rs121917898" "subst" "0" "; clinvar;" "-1.770" "" "" "" "" "MSCV_0001526" "" "0000001527" "0" "99" "X" "19373590" "19373590" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-07-07 09:10:10" "PDHA1_000011" "g.19373590T>A" "" "{PMID:8032855:8032855}" "" "rs137853255" "subst" "0" "; clinvar; ensembl;" "5.760" "" "" "" "" "MSCV_0001527" "" "0000001528" "0" "00" "X" "19373593" "19373593" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-30 08:48:23" "PDHA1_000012" "g.19373593A>C" "" "" "" "NA" "subst" "0" ";" "5.760" "" "" "" "" "MSCV_0001528" "" "0000001529" "0" "99" "X" "19373817" "19373817" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 12:29:30" "PDHA1_000001" "g.19373817A>C" "" "{PMID:8498846:8498846}" "" "rs137853253" "subst" "0" "; clinvar; ensembl;" "5.640" "" "" "" "" "MSCV_0001529" "" "0000001530" "0" "99" "X" "19373831" "19373831" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-08-17 05:42:53" "PDHA1_000002" "g.19373831C>G" "" "{PMID:3137520:3137520};{PMID:9266390:9266390};{PMID:1508605:1508605};{PMID:8504306:8504306}" "" "rs137853259" "subst" "0" "; clinvar; ensembl;" "4.770" "" "" "" "" "MSCV_0001530" "" "0000001531" "0" "99" "X" "19375782" "19375782" "subst" "35" "0.00113604" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-11-01 05:02:20" "PDHA1_000003" "g.19375782A>C" "" "{PMID:8032855:8032855}" "" "rs2229137" "subst" "0" "; clinvar; ensembl;" "5.530" "" "" "" "" "MSCV_0001531" "" "0000001532" "0" "99" "X" "19375801" "19375801" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-30 08:48:23" "PDHA1_000004" "g.19375801G>A" "" "{PMID:10486093:10486093}" "" "rs137853258" "subst" "0" "; clinvar; ensembl;" "4.660" "" "" "" "" "MSCV_0001532" "" "0000001533" "0" "99" "X" "19377038" "19377038" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-05-05 13:00:55" "PDHA1_000005" "g.19377038C>T" "" "{PMID:1293379:1293379};{PMID:9671272:9671272}" "" "rs137853252" "subst" "0" "; clinvar; ensembl;" "5.870" "" "" "" "" "MSCV_0001533" "" "0000001534" "0" "99" "X" "19377071" "19377073" "del" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 12:31:41" "PDHA1_000006" "g.19377071_19377073del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0001534" "" "0000001535" "0" "99" "X" "19377077" "19377077" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:45" "PDHA1_000007" "g.19377077G>A" "" "{PMID:8032855:8032855}" "" "rs137853256" "subst" "0" "; clinvar; ensembl;" "5.870" "" "" "" "" "MSCV_0001535" "" "0000001536" "0" "99" "X" "19377731" "19377731" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-23 10:11:58" "PDHA1_000008" "g.19377731G>A" "" "{PMID:8032855:8032855};{PMID:1909401:1909401}" "" "rs137853250" "subst" "0" "; clinvar; ensembl;" "5.630" "" "" "" "" "MSCV_0001536" "" "0000023455" "0" "99" "X" "19362184" "19362184" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:57:20" "PDHA1_000013" "g.19362184G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001523" "" "0000023456" "0" "99" "X" "19369376" "19369376" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:57:24" "PDHA1_000036" "g.19369376A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023456" "" "0000023457" "0" "99" "X" "19371203" "19371203" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:47" "PDHA1_000029" "g.19371203G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023457" "" "0000023458" "0" "55" "X" "19371208" "19371208" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 00:31:31" "PDHA1_000030" "g.19371208G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023458" "" "0000023459" "0" "55" "X" "19371215" "19371215" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:54" "PDHA1_000031" "g.19371215G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023459" "" "0000023460" "0" "77" "X" "19371236" "19371236" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:37:58" "PDHA1_000032" "g.19371236C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023460" "" "0000023461" "0" "77" "X" "19371242" "19371242" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-02-01 21:28:49" "PDHA1_000033" "g.19371242A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023461" "" "0000023462" "0" "99" "X" "19371272" "19371272" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:38:05" "PDHA1_000034" "g.19371272A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023462" "" "0000023463" "0" "99" "X" "19371287" "19371287" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-07-29 18:21:15" "PDHA1_000035" "g.19371287C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023463" "" "0000023464" "0" "77" "X" "19372634" "19372634" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:21" "PDHA1_000026" "g.19372634T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023464" "" "0000023465" "0" "99" "X" "19373478" "19373478" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-08-16 15:08:07" "PDHA1_000009" "g.19373478C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001525" "" "0000023466" "0" "77" "X" "19373503" "19373503" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-23 22:32:52" "PDHA1_000027" "g.19373503T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023466" "" "0000023467" "0" "99" "X" "19373511" "19373511" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-10-29 01:27:48" "PDHA1_000010" "g.19373511A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001526" "" "0000023468" "0" "99" "X" "19373590" "19373590" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 12:29:30" "PDHA1_000011" "g.19373590T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001527" "" "0000023469" "0" "55" "X" "19373648" "19373648" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:38" "PDHA1_000028" "g.19373648G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023469" "" "0000023470" "0" "99" "X" "19373817" "19373817" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:49:42" "PDHA1_000001" "g.19373817A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001529" "" "0000023471" "0" "99" "X" "19373831" "19373831" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 05:59:45" "PDHA1_000002" "g.19373831C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001530" "" "0000023472" "0" "11" "X" "19375782" "19375782" "subst" "35" "0.00113604" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:54" "PDHA1_000003" "g.19375782A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001531" "" "0000023473" "0" "99" "X" "19375799" "19375800" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:13:57" "PDHA1_000015" "g.19375799_19375800insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023473" "" "0000023474" "0" "99" "X" "19375801" "19375801" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 12:29:31" "PDHA1_000004" "g.19375801G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001532" "" "0000023475" "0" "00" "X" "19377029" "19377030" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-03-05 07:37:41" "PDHA1_000016" "g.19377029_19377030insATAGTTACCGTACACGAGAAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023475" "" "0000023476" "0" "99" "X" "19377038" "19377038" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:09" "PDHA1_000005" "g.19377038C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001533" "" "0000023477" "0" "00" "X" "19377059" "19377065" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:12" "PDHA1_000017" "g.19377059_19377065del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023477" "" "0000023478" "0" "99" "X" "19377064" "19377066" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:16" "PDHA1_000018" "g.19377064_19377066del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023478" "" "0000023479" "0" "99" "X" "19377071" "19377073" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:20" "PDHA1_000006" "g.19377071_19377073del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001534" "" "0000023480" "0" "99" "X" "19377077" "19377077" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:24" "PDHA1_000007" "g.19377077G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001535" "" "0000023481" "0" "00" "X" "19377668" "19377687" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:28" "PDHA1_000019" "g.19377668_19377687del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023481" "" "0000023482" "0" "99" "X" "19377671" "19377672" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:34" "PDHA1_000020" "g.19377671_19377672insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023482" "" "0000023483" "0" "99" "X" "19377730" "19377730" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:38" "PDHA1_000021" "g.19377730C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023483" "" "0000023484" "0" "99" "X" "19377731" "19377731" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:41" "PDHA1_000008" "g.19377731G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001536" "" "0000023485" "0" "00" "X" "19377737" "19377738" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:54" "PDHA1_000022" "g.19377737_19377738insCAAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023485" "" "0000023486" "0" "99" "X" "19377757" "19377758" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:14:58" "PDHA1_000023" "g.19377757_19377758del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023486" "" "0000023487" "0" "99" "X" "19377758" "19377761" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 12:31:41" "PDHA1_000024" "g.19377758_19377761del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023487" "" "0000023488" "0" "99" "X" "19377849" "19377850" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:06" "PDHA1_000025" "g.19377849_19377850insAGTCAATGAAAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0023488" "" "0000026835" "0" "00" "X" "19367429" "19367429" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:23:56" "PDHA1_000046" "g.19367429G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026836" "0" "00" "X" "19368151" "19368151" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:19:20" "PDHA1_000045" "g.19368151C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026837" "0" "00" "X" "19368202" "19368202" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:08" "PDHA1_000041" "g.19368202G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026838" "0" "00" "X" "19368227" "19368228" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:26" "PDHA1_000043" "g.19368227_19368228insGGTGAGTGGTAGGTTTGTGGTGGAACTGTGTTATTTAGGTACTGAAGTATGGCTTGTACTTATTGGGCTTTACCCTGCCATATGTATCAGAAGAGTTTG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026839" "0" "00" "X" "19369406" "19369407" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:03:34" "PDHA1_000039" "g.19369406_19369407insCT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026840" "0" "00" "X" "19371263" "19371263" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:03:53" "PDHA1_000040" "g.19371263A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026841" "0" "00" "X" "19372621" "19372621" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:14" "PDHA1_000042" "g.19372621G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026842" "0" "00" "X" "19373832" "19373833" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:04:34" "PDHA1_000044" "g.19373832_19373833del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026843" "0" "00" "X" "19377044" "19377044" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:02:50" "PDHA1_000037" "g.19377044C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026844" "0" "00" "X" "19377624" "19377637" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:03:11" "PDHA1_000038" "g.19377624_19377637del" "" "" "" "" "" "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 = 232 "{{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}}" "0000001523" "00000245" "99" "29" "0" "29" "0" "c.29G>C" "1/6" "p.(Arg10Pro)" "r.(?)" "benign(0.262)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001523" "00000246" "99" "29" "0" "29" "0" "c.29G>C" "1/6" "p.(Arg10Pro)" "r.(?)" "benign(0.262)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001523" "00000247" "99" "29" "0" "29" "0" "c.29G>C" "1/6" "p.(Arg10Pro)" "r.(?)" "benign(0.262)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001523" "00000248" "99" "29" "0" "29" "0" "c.29G>C" "1/6" "p.(Arg10Pro)" "r.(?)" "benign(0.262)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001524" "00000245" "00" "727" "0" "727" "0" "c.727T>A" "8/12" "p.(Phe243Ile)" "r.(?)" "possibly_damaging(0.876)" "" "missense_variant" "" "" "deleterious(0)" "0000001524" "00000246" "00" "634" "0" "634" "0" "c.634T>A" "7/11" "p.(Phe212Ile)" "r.(?)" "possibly_damaging(0.811)" "" "missense_variant" "" "" "deleterious(0)" "0000001524" "00000247" "00" "613" "0" "613" "0" "c.613T>A" "7/11" "p.(Phe205Ile)" "r.(?)" "possibly_damaging(0.811)" "" "missense_variant" "" "" "deleterious(0)" "0000001524" "00000248" "00" "520" "0" "520" "0" "c.520T>A" "6/10" "p.(Phe174Ile)" "r.(?)" "possibly_damaging(0.678)" "" "missense_variant" "" "" "deleterious(0)" "0000001525" "00000245" "99" "729" "0" "729" "0" "c.729C>G" "8/12" "p.(Phe243Leu)" "r.(?)" "possibly_damaging(0.586)" "" "missense_variant" "" "" "deleterious(0)" "0000001525" "00000246" "99" "636" "0" "636" "0" "c.636C>G" "7/11" "p.(Phe212Leu)" "r.(?)" "possibly_damaging(0.463)" "" "missense_variant" "" "" "deleterious(0)" "0000001525" "00000247" "99" "615" "0" "615" "0" "c.615C>G" "7/11" "p.(Phe205Leu)" "r.(?)" "possibly_damaging(0.463)" "" "missense_variant" "" "" "deleterious(0)" "0000001525" "00000248" "99" "522" "0" "522" "0" "c.522C>G" "6/10" "p.(Phe174Leu)" "r.(?)" "benign(0.297)" "" "missense_variant" "" "" "deleterious(0)" "0000001526" "00000245" "99" "762" "0" "762" "0" "c.762A>C" "8/12" "p.(Leu254Phe)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001526" "00000246" "99" "669" "0" "669" "0" "c.669A>C" "7/11" "p.(Leu223Phe)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001526" "00000247" "99" "648" "0" "648" "0" "c.648A>C" "7/11" "p.(Leu216Phe)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001526" "00000248" "99" "555" "0" "555" "0" "c.555A>C" "6/10" "p.(Leu185Phe)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001527" "00000245" "99" "841" "0" "841" "0" "c.841T>A" "8/12" "p.(Tyr281Asn)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000001527" "00000246" "99" "748" "0" "748" "0" "c.748T>A" "7/11" "p.(Tyr250Asn)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000001527" "00000247" "99" "727" "0" "727" "0" "c.727T>A" "7/11" "p.(Tyr243Asn)" "r.(?)" "probably_damaging(0.977)" "" "missense_variant" "" "" "deleterious(0)" "0000001527" "00000248" "99" "634" "0" "634" "0" "c.634T>A" "6/10" "p.(Tyr212Asn)" "r.(?)" "possibly_damaging(0.772)" "" "missense_variant" "" "" "deleterious(0)" "0000001528" "00000245" "00" "844" "0" "844" "0" "c.844A>C" "8/12" "p.(Lys282Gln)" "r.(?)" "possibly_damaging(0.585)" "" "missense_variant" "" "" "deleterious(0.05)" "0000001528" "00000246" "00" "751" "0" "751" "0" "c.751A>C" "7/11" "p.(Lys251Gln)" "r.(?)" "possibly_damaging(0.489)" "" "missense_variant" "" "" "tolerated(0.1)" "0000001528" "00000247" "00" "730" "0" "730" "0" "c.730A>C" "7/11" "p.(Lys244Gln)" "r.(?)" "possibly_damaging(0.489)" "" "missense_variant" "" "" "tolerated(0.09)" "0000001528" "00000248" "00" "637" "0" "637" "0" "c.637A>C" "6/10" "p.(Lys213Gln)" "r.(?)" "probably_damaging(0.911)" "" "missense_variant" "" "" "tolerated(0.13)" "0000001529" "00000245" "99" "887" "0" "887" "0" "c.887A>C" "9/12" "p.(Asp296Ala)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001529" "00000246" "99" "794" "0" "794" "0" "c.794A>C" "8/11" "p.(Asp265Ala)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001529" "00000247" "99" "773" "0" "773" "0" "c.773A>C" "8/11" "p.(Asp258Ala)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001529" "00000248" "99" "680" "0" "680" "0" "c.680A>C" "7/10" "p.(Asp227Ala)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001530" "00000245" "99" "901" "0" "901" "0" "c.901C>G" "9/12" "p.(Arg301Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001530" "00000246" "99" "808" "0" "808" "0" "c.808C>G" "8/11" "p.(Arg270Gly)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000001530" "00000247" "99" "787" "0" "787" "0" "c.787C>G" "8/11" "p.(Arg263Gly)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000001530" "00000248" "99" "694" "0" "694" "0" "c.694C>G" "7/10" "p.(Arg232Gly)" "r.(?)" "possibly_damaging(0.892)" "" "missense_variant" "" "" "deleterious(0)" "0000001531" "00000245" "99" "958" "0" "958" "0" "c.958A>C" "10/12" "p.(Met320Leu)" "r.(?)" "benign(0.01)" "" "missense_variant" "" "" "tolerated(1)" "0000001531" "00000246" "99" "865" "0" "865" "0" "c.865A>C" "9/11" "p.(Met289Leu)" "r.(?)" "benign(0.016)" "" "missense_variant" "" "" "tolerated(1)" "0000001531" "00000247" "99" "844" "0" "844" "0" "c.844A>C" "9/11" "p.(Met282Leu)" "r.(?)" "benign(0.037)" "" "missense_variant" "" "" "tolerated(1)" "0000001531" "00000248" "99" "751" "0" "751" "0" "c.751A>C" "8/10" "p.(Met251Leu)" "r.(?)" "benign(0.019)" "" "missense_variant" "" "" "tolerated(0.75)" "0000001532" "00000245" "99" "977" "0" "977" "0" "c.977G>A" "10/12" "p.(Arg326His)" "r.(?)" "probably_damaging(0.927)" "" "missense_variant" "" "" "deleterious(0)" "0000001532" "00000246" "99" "884" "0" "884" "0" "c.884G>A" "9/11" "p.(Arg295His)" "r.(?)" "possibly_damaging(0.878)" "" "missense_variant" "" "" "deleterious(0)" "0000001532" "00000247" "99" "863" "0" "863" "0" "c.863G>A" "9/11" "p.(Arg288His)" "r.(?)" "benign(0.357)" "" "missense_variant" "" "" "deleterious(0)" "0000001532" "00000248" "99" "770" "0" "770" "0" "c.770G>A" "8/10" "p.(Arg257His)" "r.(?)" "benign(0.344)" "" "missense_variant" "" "" "deleterious(0)" "0000001533" "00000245" "99" "1018" "0" "1018" "0" "c.1018C>T" "11/12" "p.(Arg340Cys)" "r.(?)" "possibly_damaging(0.538)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001533" "00000246" "99" "925" "0" "925" "0" "c.925C>T" "10/11" "p.(Arg309Cys)" "r.(?)" "benign(0.441)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001533" "00000247" "99" "904" "0" "904" "0" "c.904C>T" "10/11" "p.(Arg302Cys)" "r.(?)" "possibly_damaging(0.618)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001533" "00000248" "99" "811" "0" "811" "0" "c.811C>T" "9/10" "p.(Arg271Cys)" "r.(?)" "benign(0.114)" "" "missense_variant" "" "" "deleterious(0.02)" "0000001534" "00000245" "00" "1051" "0" "1053" "0" "c.1051_1053del" "" "p.(Lys351del)" "r.(?)" "" "" "" "" "" "-" "0000001534" "00000246" "00" "958" "0" "960" "0" "c.958_960del" "" "p.(Lys320del)" "r.(?)" "" "" "" "" "" "-" "0000001534" "00000247" "00" "937" "0" "939" "0" "c.937_939del" "" "p.(Lys313del)" "r.(?)" "" "" "" "" "" "-" "0000001534" "00000248" "00" "844" "0" "846" "0" "c.844_846del" "" "p.(Lys282del)" "r.(?)" "" "" "" "" "" "-" "0000001535" "00000245" "99" "1057" "0" "1057" "0" "c.1057G>A" "11/12" "p.(Asp353Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001535" "00000246" "99" "964" "0" "964" "0" "c.964G>A" "10/11" "p.(Asp322Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001535" "00000247" "99" "943" "0" "943" "0" "c.943G>A" "10/11" "p.(Asp315Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001535" "00000248" "99" "850" "0" "850" "0" "c.850G>A" "9/10" "p.(Asp284Asn)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001536" "00000245" "99" "1247" "0" "1247" "0" "c.1247G>A" "12/12" "p.(Arg416His)" "r.(?)" "probably_damaging(0.97)" "" "missense_variant" "" "" "deleterious(0)" "0000001536" "00000246" "99" "1154" "0" "1154" "0" "c.1154G>A" "11/11" "p.(Arg385His)" "r.(?)" "probably_damaging(0.97)" "" "missense_variant" "" "" "deleterious(0)" "0000001536" "00000247" "99" "1133" "0" "1133" "0" "c.1133G>A" "11/11" "p.(Arg378His)" "r.(?)" "probably_damaging(0.985)" "" "missense_variant" "" "" "deleterious(0)" "0000001536" "00000248" "99" "1040" "0" "1040" "0" "c.1040G>A" "10/10" "p.(Arg347His)" "r.(?)" "probably_damaging(0.983)" "" "missense_variant" "" "" "deleterious(0)" "0000023455" "00000245" "00" "29" "0" "29" "0" "c.29G>C" "" "p.(Arg10Pro)" "r.(?)" "" "" "" "" "" "-" "0000023455" "00000246" "00" "29" "0" "29" "0" "c.29G>C" "" "p.(Arg10Pro)" "r.(?)" "" "" "" "" "" "-" "0000023455" "00000247" "00" "29" "0" "29" "0" "c.29G>C" "" "p.(Arg10Pro)" "r.(?)" "" "" "" "" "" "-" "0000023455" "00000248" "00" "29" "0" "29" "0" "c.29G>C" "" "p.(Arg10Pro)" "r.(?)" "" "" "" "" "" "-" "0000023456" "00000245" "00" "406" "-23" "406" "-23" "c.406-23A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023456" "00000246" "00" "292" "-2" "292" "-2" "c.292-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023456" "00000247" "00" "292" "-23" "292" "-23" "c.292-23A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023456" "00000248" "00" "292" "-23" "292" "-23" "c.292-23A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023457" "00000245" "00" "536" "0" "536" "0" "c.536G>A" "" "p.(Arg179Gln)" "r.(?)" "" "" "" "" "" "-" "0000023457" "00000246" "00" "443" "0" "443" "0" "c.443G>A" "" "p.(Arg148Gln)" "r.(?)" "" "" "" "" "" "-" "0000023457" "00000247" "00" "422" "0" "422" "0" "c.422G>A" "" "p.(Arg141Gln)" "r.(?)" "" "" "" "" "" "-" "0000023457" "00000248" "00" "422" "0" "422" "0" "c.422G>A" "" "p.(Arg141Gln)" "r.(?)" "" "" "" "" "" "-" "0000023458" "00000245" "00" "541" "0" "541" "0" "c.541G>A" "" "p.(Gly181Arg)" "r.(?)" "" "" "" "" "" "-" "0000023458" "00000246" "00" "448" "0" "448" "0" "c.448G>A" "" "p.(Gly150Arg)" "r.(?)" "" "" "" "" "" "-" "0000023458" "00000247" "00" "427" "0" "427" "0" "c.427G>A" "" "p.(Gly143Arg)" "r.(?)" "" "" "" "" "" "-" "0000023458" "00000248" "00" "427" "0" "427" "0" "c.427G>A" "" "p.(Gly143Arg)" "r.(?)" "" "" "" "" "" "-" "0000023459" "00000245" "00" "548" "0" "548" "0" "c.548G>A" "" "p.(Cys183Tyr)" "r.(?)" "" "" "" "" "" "-" "0000023459" "00000246" "00" "455" "0" "455" "0" "c.455G>A" "" "p.(Cys152Tyr)" "r.(?)" "" "" "" "" "" "-" "0000023459" "00000247" "00" "434" "0" "434" "0" "c.434G>A" "" "p.(Cys145Tyr)" "r.(?)" "" "" "" "" "" "-" "0000023459" "00000248" "00" "434" "0" "434" "0" "c.434G>A" "" "p.(Cys145Tyr)" "r.(?)" "" "" "" "" "" "-" "0000023460" "00000245" "00" "569" "0" "569" "0" "c.569C>T" "" "p.(Ser190Leu)" "r.(?)" "" "" "" "" "" "-" "0000023460" "00000246" "00" "476" "0" "476" "0" "c.476C>T" "" "p.(Ser159Leu)" "r.(?)" "" "" "" "" "" "-" "0000023460" "00000247" "00" "455" "0" "455" "0" "c.455C>T" "" "p.(Ser152Leu)" "r.(?)" "" "" "" "" "" "-" "0000023460" "00000248" "00" "455" "0" "455" "0" "c.455C>T" "" "p.(Ser152Leu)" "r.(?)" "" "" "" "" "" "-" "0000023461" "00000245" "00" "575" "0" "575" "0" "c.575A>G" "" "p.(His192Arg)" "r.(?)" "" "" "" "" "" "-" "0000023461" "00000246" "00" "482" "0" "482" "0" "c.482A>G" "" "p.(His161Arg)" "r.(?)" "" "" "" "" "" "-" "0000023461" "00000247" "00" "461" "0" "461" "0" "c.461A>G" "" "p.(His154Arg)" "r.(?)" "" "" "" "" "" "-" "0000023461" "00000248" "00" "461" "0" "461" "0" "c.461A>G" "" "p.(His154Arg)" "r.(?)" "" "" "" "" "" "-" "0000023462" "00000245" "00" "605" "0" "605" "0" "c.605A>G" "" "p.(Asn202Ser)" "r.(?)" "" "" "" "" "" "-" "0000023462" "00000246" "00" "512" "0" "512" "0" "c.512A>G" "" "p.(Asn171Ser)" "r.(?)" "" "" "" "" "" "-" "0000023462" "00000247" "00" "491" "0" "491" "0" "c.491A>G" "" "p.(Asn164Ser)" "r.(?)" "" "" "" "" "" "-" "0000023462" "00000248" "00" "491" "0" "491" "0" "c.491A>G" "" "p.(Asn164Ser)" "r.(?)" "" "" "" "" "" "-" "0000023463" "00000245" "00" "620" "0" "620" "0" "c.620C>T" "" "p.(Ala207Val)" "r.(?)" "" "" "" "" "" "-" "0000023463" "00000246" "00" "527" "0" "527" "0" "c.527C>T" "" "p.(Ala176Val)" "r.(?)" "" "" "" "" "" "-" "0000023463" "00000247" "00" "506" "0" "506" "0" "c.506C>T" "" "p.(Ala169Val)" "r.(?)" "" "" "" "" "" "-" "0000023463" "00000248" "00" "506" "0" "506" "0" "c.506C>T" "" "p.(Ala169Val)" "r.(?)" "" "" "" "" "" "-" "0000023464" "00000245" "00" "650" "0" "650" "0" "c.650T>G" "" "p.(Leu217Arg)" "r.(?)" "" "" "" "" "" "-" "0000023464" "00000246" "00" "557" "0" "557" "0" "c.557T>G" "" "p.(Leu186Arg)" "r.(?)" "" "" "" "" "" "-" "0000023464" "00000247" "00" "536" "0" "536" "0" "c.536T>G" "" "p.(Leu179Arg)" "r.(?)" "" "" "" "" "" "-" "0000023464" "00000248" "00" "511" "-833" "511" "-833" "c.511-833T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023465" "00000245" "00" "729" "0" "729" "0" "c.729C>G" "" "p.(Phe243Leu)" "r.(?)" "" "" "" "" "" "-" "0000023465" "00000246" "00" "636" "0" "636" "0" "c.636C>G" "" "p.(Phe212Leu)" "r.(?)" "" "" "" "" "" "-" "0000023465" "00000247" "00" "615" "0" "615" "0" "c.615C>G" "" "p.(Phe205Leu)" "r.(?)" "" "" "" "" "" "-" "0000023465" "00000248" "00" "522" "0" "522" "0" "c.522C>G" "" "p.(Phe174Leu)" "r.(?)" "" "" "" "" "" "-" "0000023466" "00000245" "00" "754" "0" "754" "0" "c.754T>C" "" "p.(Trp252Arg)" "r.(?)" "" "" "" "" "" "-" "0000023466" "00000246" "00" "661" "0" "661" "0" "c.661T>C" "" "p.(Trp221Arg)" "r.(?)" "" "" "" "" "" "-" "0000023466" "00000247" "00" "640" "0" "640" "0" "c.640T>C" "" "p.(Trp214Arg)" "r.(?)" "" "" "" "" "" "-" "0000023466" "00000248" "00" "547" "0" "547" "0" "c.547T>C" "" "p.(Trp183Arg)" "r.(?)" "" "" "" "" "" "-" "0000023467" "00000245" "00" "762" "0" "762" "0" "c.762A>C" "" "p.(Leu254Phe)" "r.(?)" "" "" "" "" "" "-" "0000023467" "00000246" "00" "669" "0" "669" "0" "c.669A>C" "" "p.(Leu223Phe)" "r.(?)" "" "" "" "" "" "-" "0000023467" "00000247" "00" "648" "0" "648" "0" "c.648A>C" "" "p.(Leu216Phe)" "r.(?)" "" "" "" "" "" "-" "0000023467" "00000248" "00" "555" "0" "555" "0" "c.555A>C" "" "p.(Leu185Phe)" "r.(?)" "" "" "" "" "" "-" "0000023468" "00000245" "00" "841" "0" "841" "0" "c.841T>A" "" "p.(Tyr281Asn)" "r.(?)" "" "" "" "" "" "-" "0000023468" "00000246" "00" "748" "0" "748" "0" "c.748T>A" "" "p.(Tyr250Asn)" "r.(?)" "" "" "" "" "" "-" "0000023468" "00000247" "00" "727" "0" "727" "0" "c.727T>A" "" "p.(Tyr243Asn)" "r.(?)" "" "" "" "" "" "-" "0000023468" "00000248" "00" "634" "0" "634" "0" "c.634T>A" "" "p.(Tyr212Asn)" "r.(?)" "" "" "" "" "" "-" "0000023469" "00000245" "00" "873" "26" "873" "26" "c.873+26G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023469" "00000246" "00" "780" "26" "780" "26" "c.780+26G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023469" "00000247" "00" "759" "26" "759" "26" "c.759+26G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023469" "00000248" "00" "666" "26" "666" "26" "c.666+26G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023470" "00000245" "00" "887" "0" "887" "0" "c.887A>C" "" "p.(Asp296Ala)" "r.(?)" "" "" "" "" "" "-" "0000023470" "00000246" "00" "794" "0" "794" "0" "c.794A>C" "" "p.(Asp265Ala)" "r.(?)" "" "" "" "" "" "-" "0000023470" "00000247" "00" "773" "0" "773" "0" "c.773A>C" "" "p.(Asp258Ala)" "r.(?)" "" "" "" "" "" "-" "0000023470" "00000248" "00" "680" "0" "680" "0" "c.680A>C" "" "p.(Asp227Ala)" "r.(?)" "" "" "" "" "" "-" "0000023471" "00000245" "00" "901" "0" "901" "0" "c.901C>G" "" "p.(Arg301Gly)" "r.(?)" "" "" "" "" "" "-" "0000023471" "00000246" "00" "808" "0" "808" "0" "c.808C>G" "" "p.(Arg270Gly)" "r.(?)" "" "" "" "" "" "-" "0000023471" "00000247" "00" "787" "0" "787" "0" "c.787C>G" "" "p.(Arg263Gly)" "r.(?)" "" "" "" "" "" "-" "0000023471" "00000248" "00" "694" "0" "694" "0" "c.694C>G" "" "p.(Arg232Gly)" "r.(?)" "" "" "" "" "" "-" "0000023472" "00000245" "00" "958" "0" "958" "0" "c.958A>C" "" "p.(Met320Leu)" "r.(?)" "" "" "" "" "" "-" "0000023472" "00000246" "00" "865" "0" "865" "0" "c.865A>C" "" "p.(Met289Leu)" "r.(?)" "" "" "" "" "" "-" "0000023472" "00000247" "00" "844" "0" "844" "0" "c.844A>C" "" "p.(Met282Leu)" "r.(?)" "" "" "" "" "" "-" "0000023472" "00000248" "00" "751" "0" "751" "0" "c.751A>C" "" "p.(Met251Leu)" "r.(?)" "" "" "" "" "" "-" "0000023473" "00000245" "00" "975" "0" "976" "0" "c.975_976insT" "" "p.(Arg326Serfs*9)" "r.(?)" "" "" "" "" "" "-" "0000023473" "00000246" "00" "882" "0" "883" "0" "c.882_883insT" "" "p.(Arg295Serfs*9)" "r.(?)" "" "" "" "" "" "-" "0000023473" "00000247" "00" "861" "0" "862" "0" "c.861_862insT" "" "p.(Arg288Serfs*9)" "r.(?)" "" "" "" "" "" "-" "0000023473" "00000248" "00" "768" "0" "769" "0" "c.768_769insT" "" "p.(Arg257Serfs*9)" "r.(?)" "" "" "" "" "" "-" "0000023474" "00000245" "00" "977" "0" "977" "0" "c.977G>A" "" "p.(Arg326His)" "r.(?)" "" "" "" "" "" "-" "0000023474" "00000246" "00" "884" "0" "884" "0" "c.884G>A" "" "p.(Arg295His)" "r.(?)" "" "" "" "" "" "-" "0000023474" "00000247" "00" "863" "0" "863" "0" "c.863G>A" "" "p.(Arg288His)" "r.(?)" "" "" "" "" "" "-" "0000023474" "00000248" "00" "770" "0" "770" "0" "c.770G>A" "" "p.(Arg257His)" "r.(?)" "" "" "" "" "" "-" "0000023475" "00000245" "00" "1014" "-5" "1014" "-4" "c.1014-5_1014-4insATAGTTACCGTACACGAGAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023475" "00000246" "00" "921" "-5" "921" "-4" "c.921-5_921-4insATAGTTACCGTACACGAGAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023475" "00000247" "00" "900" "-5" "900" "-4" "c.900-5_900-4insATAGTTACCGTACACGAGAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023475" "00000248" "00" "807" "-5" "807" "-4" "c.807-5_807-4insATAGTTACCGTACACGAGAAG" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000023476" "00000245" "00" "1018" "0" "1018" "0" "c.1018C>T" "" "p.(Arg340Cys)" "r.(?)" "" "" "" "" "" "-" "0000023476" "00000246" "00" "925" "0" "925" "0" "c.925C>T" "" "p.(Arg309Cys)" "r.(?)" "" "" "" "" "" "-" "0000023476" "00000247" "00" "904" "0" "904" "0" "c.904C>T" "" "p.(Arg302Cys)" "r.(?)" "" "" "" "" "" "-" "0000023476" "00000248" "00" "811" "0" "811" "0" "c.811C>T" "" "p.(Arg271Cys)" "r.(?)" "" "" "" "" "" "-" "0000023477" "00000245" "00" "1039" "0" "1045" "0" "c.1039_1045del" "" "p.(Ser350Valfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023477" "00000246" "00" "946" "0" "952" "0" "c.946_952del" "" "p.(Ser319Valfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023477" "00000247" "00" "925" "0" "931" "0" "c.925_931del" "" "p.(Ser312Valfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023477" "00000248" "00" "832" "0" "838" "0" "c.832_838del" "" "p.(Ser281Valfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023478" "00000245" "00" "1044" "0" "1046" "0" "c.1044_1046del" "" "p.(Arg349del)" "r.(?)" "" "" "" "" "" "-" "0000023478" "00000246" "00" "951" "0" "953" "0" "c.951_953del" "" "p.(Arg318del)" "r.(?)" "" "" "" "" "" "-" "0000023478" "00000247" "00" "930" "0" "932" "0" "c.930_932del" "" "p.(Arg311del)" "r.(?)" "" "" "" "" "" "-" "0000023478" "00000248" "00" "837" "0" "839" "0" "c.837_839del" "" "p.(Arg280del)" "r.(?)" "" "" "" "" "" "-" "0000023479" "00000245" "00" "1051" "0" "1053" "0" "c.1051_1053del" "" "p.(Lys351del)" "r.(?)" "" "" "" "" "" "-" "0000023479" "00000246" "00" "958" "0" "960" "0" "c.958_960del" "" "p.(Lys320del)" "r.(?)" "" "" "" "" "" "-" "0000023479" "00000247" "00" "937" "0" "939" "0" "c.937_939del" "" "p.(Lys313del)" "r.(?)" "" "" "" "" "" "-" "0000023479" "00000248" "00" "844" "0" "846" "0" "c.844_846del" "" "p.(Lys282del)" "r.(?)" "" "" "" "" "" "-" "0000023480" "00000245" "00" "1057" "0" "1057" "0" "c.1057G>A" "" "p.(Asp353Asn)" "r.(?)" "" "" "" "" "" "-" "0000023480" "00000246" "00" "964" "0" "964" "0" "c.964G>A" "" "p.(Asp322Asn)" "r.(?)" "" "" "" "" "" "-" "0000023480" "00000247" "00" "943" "0" "943" "0" "c.943G>A" "" "p.(Asp315Asn)" "r.(?)" "" "" "" "" "" "-" "0000023480" "00000248" "00" "850" "0" "850" "0" "c.850G>A" "" "p.(Asp284Asn)" "r.(?)" "" "" "" "" "" "-" "0000023481" "00000245" "00" "1184" "0" "1203" "0" "c.1184_1203del" "" "p.(Glu396Glyfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023481" "00000246" "00" "1091" "0" "1110" "0" "c.1091_1110del" "" "p.(Glu365Glyfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023481" "00000247" "00" "1070" "0" "1089" "0" "c.1070_1089del" "" "p.(Glu358Glyfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023481" "00000248" "00" "977" "0" "996" "0" "c.977_996del" "" "p.(Glu327Glyfs*12)" "r.(?)" "" "" "" "" "" "-" "0000023482" "00000245" "00" "1187" "0" "1188" "0" "c.1187_1188insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC" "" "p.(Pro397_Ser408dup)" "r.(?)" "" "" "" "" "" "-" "0000023482" "00000246" "00" "1094" "0" "1095" "0" "c.1094_1095insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC" "" "p.(Pro366_Ser377dup)" "r.(?)" "" "" "" "" "" "-" "0000023482" "00000247" "00" "1073" "0" "1074" "0" "c.1073_1074insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC" "" "p.(Pro359_Ser370dup)" "r.(?)" "" "" "" "" "" "-" "0000023482" "00000248" "00" "980" "0" "981" "0" "c.980_981insGCCACCTTTGGAAGAGCTGGGCTACCACATCTACTC" "" "p.(Pro328_Ser339dup)" "r.(?)" "" "" "" "" "" "-" "0000023483" "00000245" "00" "1246" "0" "1246" "0" "c.1246C>T" "" "p.(Arg416Cys)" "r.(?)" "" "" "" "" "" "-" "0000023483" "00000246" "00" "1153" "0" "1153" "0" "c.1153C>T" "" "p.(Arg385Cys)" "r.(?)" "" "" "" "" "" "-" "0000023483" "00000247" "00" "1132" "0" "1132" "0" "c.1132C>T" "" "p.(Arg378Cys)" "r.(?)" "" "" "" "" "" "-" "0000023483" "00000248" "00" "1039" "0" "1039" "0" "c.1039C>T" "" "p.(Arg347Cys)" "r.(?)" "" "" "" "" "" "-" "0000023484" "00000245" "00" "1247" "0" "1247" "0" "c.1247G>A" "" "p.(Arg416His)" "r.(?)" "" "" "" "" "" "-" "0000023484" "00000246" "00" "1154" "0" "1154" "0" "c.1154G>A" "" "p.(Arg385His)" "r.(?)" "" "" "" "" "" "-" "0000023484" "00000247" "00" "1133" "0" "1133" "0" "c.1133G>A" "" "p.(Arg378His)" "r.(?)" "" "" "" "" "" "-" "0000023484" "00000248" "00" "1040" "0" "1040" "0" "c.1040G>A" "" "p.(Arg347His)" "r.(?)" "" "" "" "" "" "-" "0000023485" "00000245" "00" "1253" "0" "1254" "0" "c.1253_1254insCAAT" "" "p.(Trp421Serfs*6)" "r.(?)" "" "" "" "" "" "-" "0000023485" "00000246" "00" "1160" "0" "1161" "0" "c.1160_1161insCAAT" "" "p.(Trp390Serfs*6)" "r.(?)" "" "" "" "" "" "-" "0000023485" "00000247" "00" "1139" "0" "1140" "0" "c.1139_1140insCAAT" "" "p.(Trp383Serfs*6)" "r.(?)" "" "" "" "" "" "-" "0000023485" "00000248" "00" "1046" "0" "1047" "0" "c.1046_1047insCAAT" "" "p.(Trp352Serfs*6)" "r.(?)" "" "" "" "" "" "-" "0000023486" "00000245" "00" "1273" "0" "1274" "0" "c.1273_1274del" "" "p.(Lys425Valfs*44)" "r.(?)" "" "" "" "" "" "-" "0000023486" "00000246" "00" "1180" "0" "1181" "0" "c.1180_1181del" "" "p.(Lys394Valfs*44)" "r.(?)" "" "" "" "" "" "-" "0000023486" "00000247" "00" "1159" "0" "1160" "0" "c.1159_1160del" "" "p.(Lys387Valfs*44)" "r.(?)" "" "" "" "" "" "-" "0000023486" "00000248" "00" "1066" "0" "1067" "0" "c.1066_1067del" "" "p.(Lys356Valfs*44)" "r.(?)" "" "" "" "" "" "-" "0000023487" "00000245" "00" "1274" "0" "1277" "0" "c.1274_1277del" "" "p.(Ser428Lysfs*33)" "r.(?)" "" "" "" "" "" "-" "0000023487" "00000246" "00" "1181" "0" "1184" "0" "c.1181_1184del" "" "p.(Ser397Lysfs*33)" "r.(?)" "" "" "" "" "" "-" "0000023487" "00000247" "00" "1160" "0" "1163" "0" "c.1160_1163del" "" "p.(Ser390Lysfs*33)" "r.(?)" "" "" "" "" "" "-" "0000023487" "00000248" "00" "1067" "0" "1070" "0" "c.1067_1070del" "" "p.(Ser359Lysfs*33)" "r.(?)" "" "" "" "" "" "-" "0000023488" "00000245" "00" "1365" "0" "1366" "0" "c.*78_*79insAGTCAATGAAAT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023488" "00000246" "00" "1272" "0" "1273" "0" "c.*78_*79insAGTCAATGAAAT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023488" "00000247" "00" "1251" "0" "1252" "0" "c.*78_*79insAGTCAATGAAAT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000023488" "00000248" "00" "1158" "0" "1159" "0" "c.*78_*79insAGTCAATGAAAT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026835" "00000245" "00" "172" "-1" "172" "-1" "c.172-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026835" "00000246" "00" "58" "-1" "58" "-1" "c.58-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026835" "00000247" "00" "58" "-1" "58" "-1" "c.58-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026835" "00000248" "00" "58" "-1" "58" "-1" "c.58-1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026836" "00000245" "00" "328" "0" "328" "0" "c.328C>T" "" "p.(Arg110Cys)" "r.(?)" "" "" "" "" "" "-" "0000026836" "00000246" "00" "214" "0" "214" "0" "c.214C>T" "" "p.(Arg72Cys)" "r.(?)" "" "" "" "" "" "-" "0000026836" "00000247" "00" "214" "0" "214" "0" "c.214C>T" "" "p.(Arg72Cys)" "r.(?)" "" "" "" "" "" "-" "0000026836" "00000248" "00" "214" "0" "214" "0" "c.214C>T" "" "p.(Arg72Cys)" "r.(?)" "" "" "" "" "" "-" "0000026837" "00000245" "00" "379" "0" "379" "0" "c.379G>A" "" "p.(Gly127Ser)" "r.(?)" "" "" "" "" "" "-" "0000026837" "00000246" "00" "265" "0" "265" "0" "c.265G>A" "" "p.(Gly89Ser)" "r.(?)" "" "" "" "" "" "-" "0000026837" "00000247" "00" "265" "0" "265" "0" "c.265G>A" "" "p.(Gly89Ser)" "r.(?)" "" "" "" "" "" "-" "0000026837" "00000248" "00" "265" "0" "265" "0" "c.265G>A" "" "p.(Gly89Ser)" "r.(?)" "" "" "" "" "" "-" "0000026838" "00000245" "00" "404" "0" "405" "0" "c.404_405insGGTGAGTGGTAGGTTTGTGGTGGAACTGTGTTATTTAGGTACTGAAGTATGGCTTGTACTTATTGGGCTTTACCCTGCCATATGTATC" "" "p.(Gln135_Glu136insValSerGlyArgPheValValGluLeuCysTyrLeuGlyThrGluValTrpLeuValLeuIleGlyLeuTyrProAlaIle" "r.(?)" "" "" "" "" "" "-" "0000026838" "00000246" "00" "290" "0" "291" "0" "c.290_291insGGTGAGTGGTAGGTTTGTGGTGGAACTGTGTTATTTAGGTACTGAAGTATGGCTTGTACTTATTGGGCTTTACCCTGCCATATGTATC" "" "p.(Gln97_Phe98insValSerGlyArgPheValValGluLeuCysTyrLeuGlyThrGluValTrpLeuValLeuIleGlyLeuTyrProAlaIleCy" "r.(?)" "" "" "" "" "" "-" "0000026838" "00000247" "00" "290" "0" "291" "0" "c.290_291insGGTGAGTGGTAGGTTTGTGGTGGAACTGTGTTATTTAGGTACTGAAGTATGGCTTGTACTTATTGGGCTTTACCCTGCCATATGTATC" "" "p.(Gln97_Glu98insValSerGlyArgPheValValGluLeuCysTyrLeuGlyThrGluValTrpLeuValLeuIleGlyLeuTyrProAlaIleCy" "r.(?)" "" "" "" "" "" "-" "0000026838" "00000248" "00" "290" "0" "291" "0" "c.290_291insGGTGAGTGGTAGGTTTGTGGTGGAACTGTGTTATTTAGGTACTGAAGTATGGCTTGTACTTATTGGGCTTTACCCTGCCATATGTATC" "" "p.(Gln97_Glu98insValSerGlyArgPheValValGluLeuCysTyrLeuGlyThrGluValTrpLeuValLeuIleGlyLeuTyrProAlaIleCy" "r.(?)" "" "" "" "" "" "-" "0000026839" "00000245" "00" "413" "0" "414" "0" "c.413_414insCT" "" "p.(Cys139Serfs*80)" "r.(?)" "" "" "" "" "" "-" "0000026839" "00000246" "00" "320" "0" "321" "0" "c.320_321insCT" "" "p.(Cys108Serfs*80)" "r.(?)" "" "" "" "" "" "-" "0000026839" "00000247" "00" "299" "0" "300" "0" "c.299_300insCT" "" "p.(Cys101Serfs*80)" "r.(?)" "" "" "" "" "" "-" "0000026839" "00000248" "00" "299" "0" "300" "0" "c.299_300insCT" "" "p.(Cys101Serfs*122)" "r.(?)" "" "" "" "" "" "-" "0000026840" "00000245" "00" "596" "0" "596" "0" "c.596A>G" "" "p.(Tyr199Cys)" "r.(?)" "" "" "" "" "" "-" "0000026840" "00000246" "00" "503" "0" "503" "0" "c.503A>G" "" "p.(Tyr168Cys)" "r.(?)" "" "" "" "" "" "-" "0000026840" "00000247" "00" "482" "0" "482" "0" "c.482A>G" "" "p.(Tyr161Cys)" "r.(?)" "" "" "" "" "" "-" "0000026840" "00000248" "00" "482" "0" "482" "0" "c.482A>G" "" "p.(Tyr161Cys)" "r.(?)" "" "" "" "" "" "-" "0000026841" "00000245" "00" "637" "0" "637" "0" "c.637G>A" "" "p.(Ala213Thr)" "r.(?)" "" "" "" "" "" "-" "0000026841" "00000246" "00" "544" "0" "544" "0" "c.544G>A" "" "p.(Ala182Thr)" "r.(?)" "" "" "" "" "" "-" "0000026841" "00000247" "00" "523" "0" "523" "0" "c.523G>A" "" "p.(Ala175Thr)" "r.(?)" "" "" "" "" "" "-" "0000026841" "00000248" "00" "511" "-846" "511" "-846" "c.511-846G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026842" "00000245" "00" "902" "0" "903" "0" "c.902_903del" "" "p.(Glu302Glyfs*10)" "r.(?)" "" "" "" "" "" "-" "0000026842" "00000246" "00" "809" "0" "810" "0" "c.809_810del" "" "p.(Glu271Glyfs*10)" "r.(?)" "" "" "" "" "" "-" "0000026842" "00000247" "00" "788" "0" "789" "0" "c.788_789del" "" "p.(Glu264Glyfs*10)" "r.(?)" "" "" "" "" "" "-" "0000026842" "00000248" "00" "695" "0" "696" "0" "c.695_696del" "" "p.(Glu233Glyfs*10)" "r.(?)" "" "" "" "" "" "-" "0000026843" "00000245" "00" "1024" "0" "1024" "0" "c.1024C>T" "" "p.(Arg342*)" "r.(?)" "" "" "" "" "" "-" "0000026843" "00000246" "00" "931" "0" "931" "0" "c.931C>T" "" "p.(Arg311*)" "r.(?)" "" "" "" "" "" "-" "0000026843" "00000247" "00" "910" "0" "910" "0" "c.910C>T" "" "p.(Arg304*)" "r.(?)" "" "" "" "" "" "-" "0000026843" "00000248" "00" "817" "0" "817" "0" "c.817C>T" "" "p.(Arg273*)" "r.(?)" "" "" "" "" "" "-" "0000026844" "00000245" "00" "1140" "0" "1153" "0" "c.1140_1153del" "" "p.(Arg381Glyfs*11)" "r.(?)" "" "" "" "" "" "-" "0000026844" "00000246" "00" "1047" "0" "1060" "0" "c.1047_1060del" "" "p.(Arg350Glyfs*11)" "r.(?)" "" "" "" "" "" "-" "0000026844" "00000247" "00" "1026" "0" "1039" "0" "c.1026_1039del" "" "p.(Arg343Glyfs*11)" "r.(?)" "" "" "" "" "" "-" "0000026844" "00000248" "00" "933" "0" "946" "0" "c.933_946del" "" "p.(Arg312Glyfs*11)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0