### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND6) # 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}}" "MT-ND6" "mitochondrially encoded NADH dehydrogenase 6" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7462" "4541" "516006" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "Y" "" "2" "Mitochondria chromosome located genes from HGNC" "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "00000" "0000-00-00 00:00:00" "00000" "0000-00-00 00:00:00" "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 = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00001348" "MT-ND6" "MT-ND6-201" "000" "MT-ND6-201" "ENST00000361681" "" "ENSP00000354665" "" "" "0" "0" "0" "14149" "14673" "00001" "2013-11-15 15:00:00" "00000" "2015-03-12 15:00:00" "Manually imported from Ensembl Biomart" "M" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00072" "LHON" "LEBER OPTIC ATROPHY, LEBER HEREDITARY OPTIC NEUROPATHY; DOID:705" "535000" "" "" "" "00001" "2013-11-13 09:27:26" "00001" "2014-03-27 15:58:45" "" "00149" "LDYT" "LEBER OPTIC ATROPHY AND DYSTONIA, alt: LEBER HEREDITARY OPTIC NEUROPATHY WITH DYSTONIA; LDYT;; DYSTONIA, FAMILIAL, WITH VISUAL FAILURE AND STRIATAL LUCENCIES;; MARSDEN SYNDROME" "500001" "" "" "" "00001" "2013-11-16 09:52:08" "00001" "2013-11-16 09:55:01" "" "00163" "MELAS SYNDROME" "MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES;DOID:3687" "540000" "" "" "" "00001" "2013-11-12 14:00:00" "00001" "2014-03-27 16:07:57" "" "00167" "553000" "ONCOCYTOMA " "553000" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MT-ND6" "00072" "MT-ND6" "00149" "MT-ND6" "00163" "MT-ND6" "00167" ## 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 = 43 "{{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}}" "0000001489" "0" "77" "M" "14319" "14319" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000026" "m.14319T>C" "" "{PMID:18524835:18524835}" "" "rs199476110" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-3.510" "" "" "" "" "MSCV_0001489" "" "0000001490" "0" "99" "M" "14325" "14325" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-09-16 18:26:41" "chrM_000027" "m.14325T>C" "" "{PMID:20301353:20301353}" "" "rs397515505" "subst" "0" "; clinVar; Mitomap; ensembl;" "-6.200" "" "" "" "" "MSCV_0001490" "" "0000001491" "0" "99" "M" "14453" "14453" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 13:08:48" "chrM_000028" "m.14453G>A" "" "{PMID:11781695:11781695}" "" "rs199476107" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.050" "" "" "" "" "MSCV_0001491" "" "0000001492" "0" "99" "M" "14459" "14459" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:38:22" "chrM_000029" "m.14459G>A" "" "{PMID:10894222:10894222};{PMID:20301353:20301353};{PMID:7654063:7654063};{PMID:8016139:8016139};{PMID:14735585:14735585};{PMID:16380132:16380132}" "" "rs199476105" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.050" "" "" "" "" "MSCV_0001492" "" "0000001493" "0" "99" "M" "14482" "14482" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 19:12:43" "chrM_000030" "m.14482C>A" "" "{PMID:20301353:20301353};{PMID:12112086:12112086}" "" "rs199476108" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-0.731" "" "" "" "" "MSCV_0001493" "" "0000001494" "0" "99" "M" "14482" "14482" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-05-25 05:47:35" "chrM_000031" "m.14482C>G" "" "{PMID:20301353:20301353};{PMID:12112086:12112086}" "" "rs199476108" "subst" "0" "; clinvar; ensembl;" "-0.731" "" "" "" "" "MSCV_0001494" "" "0000001495" "0" "99" "M" "14482" "14482" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:42:25" "chrM_000032" "m.14482C>T" "" "{PMID:20301353:20301353};{PMID:12112086:12112086}" "" "rs199476108" "subst" "0" "; clinvar; ensembl;" "-0.731" "" "" "" "" "MSCV_0001495" "" "0000001496" "0" "99" "M" "14484" "14484" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:36:12" "chrM_000033" "m.14484T>C" "" "{PMID:10631164:10631164};{PMID:12205655:12205655};{PMID:1634041:1634041};{PMID:7219534:7219534};{PMID:10939569:10939569};{PMID:8755941:8755941};{PMID:12827453:12827453};{PMID:1417830:1417830};{PMID:5511487:5511487};{PMID:9012411:9012411};{PMID:9849804:984" "" "rs199476104" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-8.090" "" "" "" "" "MSCV_0001496" "" "0000001497" "0" "99" "M" "14487" "14487" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-08 05:15:40" "chrM_000034" "m.14487T>C" "" "{PMID:14520668:14520668};{PMID:14684687:14684687};{PMID:15576045:15576045};{PMID:12205655:12205655};{PMID:14595656:14595656}" "" "rs199476109" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.050" "" "" "" "" "MSCV_0001497" "" "0000001498" "0" "99" "M" "14495" "14495" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000035" "m.14495A>G" "" "{PMID:11133798:11133798};{PMID:20301353:20301353}" "" "rs199476106" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.050" "" "" "" "" "MSCV_0001498" "" "0000001499" "0" "99" "M" "14568" "14568" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 12:16:47" "chrM_000036" "m.14568C>T" "" "{PMID:20301353:20301353}" "" "rs397515506" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.150" "" "" "" "" "MSCV_0001499" "" "0000001500" "0" "99" "M" "14596" "14596" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000037" "m.14596A>T" "" "{PMID:8644732:8644732};{PMID:20301353:20301353}" "" "rs387906424" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.150" "" "" "" "" "MSCV_0001500" "" "0000004010" "0" "55" "M" "14152" "14152" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-22 04:03:58" "chrM_000544" "m.14152A>G" "" "" "" "rs28357669" "subst" "0" ";" "0.823" "" "" "" "" "MSCV_0004010" "" "0000004011" "0" "77" "M" "14163" "14163" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:13:32" "chrM_000545" "m.14163C>T" "" "" "" "" "subst" "0" "; Mitomap;" "1.780" "" "" "" "" "MSCV_0004011" "" "0000004012" "0" "55" "M" "14167" "14167" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:13:32" "chrM_000546" "m.14167C>T" "" "" "" "rs28357670" "subst" "0" ";" "-7.230" "" "" "" "" "MSCV_0004012" "" "0000004013" "0" "55" "M" "14178" "14178" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-07-20 06:58:01" "chrM_000547" "m.14178T>C" "" "" "" "rs28357671" "subst" "0" ";" "-2.650" "" "" "" "" "MSCV_0004013" "" "0000004014" "0" "55" "M" "14180" "14180" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:33:39" "chrM_000548" "m.14180T>C" "" "" "" "rs200933339" "subst" "0" ";" "0.864" "" "" "" "" "MSCV_0004014" "" "0000004016" "0" "55" "M" "14199" "14199" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:13:32" "chrM_000549" "m.14199T>G" "" "" "" "rs2857288" "subst" "0" ";" "-1.970" "" "" "" "" "MSCV_0004016" "" "0000004017" "0" "55" "M" "14203" "14203" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:35:54" "chrM_000550" "m.14203A>G" "" "" "" "rs34657896" "subst" "0" ";" "-8.090" "" "" "" "" "MSCV_0004017" "" "0000004019" "0" "55" "M" "14212" "14212" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 18:42:20" "chrM_000551" "m.14212T>C" "" "" "" "rs28357672" "subst" "0" ";" "-8.090" "" "" "" "" "MSCV_0004019" "" "0000004020" "0" "55" "M" "14218" "14218" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:17:33" "chrM_000552" "m.14218T>C" "" "" "" "rs28553869" "subst" "0" ";" "-8.090" "" "" "" "" "MSCV_0004020" "" "0000004021" "0" "55" "M" "14233" "14233" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:37:51" "chrM_000553" "m.14233A>G" "" "" "" "rs3915611" "subst" "0" ";" "0.889" "" "" "" "" "MSCV_0004021" "" "0000004022" "0" "55" "M" "14258" "14258" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:13:32" "chrM_000554" "m.14258G>A" "" "" "" "rs202227543" "subst" "0" ";" "-0.301" "" "" "" "" "MSCV_0004022" "" "0000004023" "0" "55" "M" "14272" "14272" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 18:42:21" "chrM_000555" "m.14272C>G" "" "" "" "rs2853814" "subst" "0" ";" "-8.090" "" "" "" "" "MSCV_0004023" "" "0000004024" "0" "77" "M" "14279" "14279" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:35:09" "chrM_000556" "m.14279G>A" "" "" "" "" "subst" "0" "; Mitomap;" "1.330" "" "" "" "" "MSCV_0004024" "" "0000004025" "0" "55" "M" "14284" "14284" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 18:42:21" "chrM_000557" "m.14284C>T" "" "" "" "rs28357673" "subst" "0" ";" "-8.090" "" "" "" "" "MSCV_0004025" "" "0000004026" "0" "55" "M" "14308" "14308" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:43:38" "chrM_000558" "m.14308T>C" "" "" "" "rs28357674" "subst" "0" ";" "-7.040" "" "" "" "" "MSCV_0004026" "" "0000004027" "0" "55" "M" "14318" "14318" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:16:02" "chrM_000559" "m.14318T>C" "" "" "" "rs28357675" "subst" "0" ";" "0.368" "" "" "" "" "MSCV_0004027" "" "0000004030" "0" "77" "M" "14340" "14340" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 02:51:30" "chrM_001130" "m.14340C>T" "" "" "" "" "subst" "0" "; Mitomap;" "-3.300" "" "" "" "" "MSCV_0004030" "" "0000004031" "0" "55" "M" "14365" "14365" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:33:03" "chrM_001131" "m.14365C>G" "" "" "" "rs2853815" "subst" "0" ";" "-5.060" "" "" "" "" "MSCV_0004031" "" "0000004032" "0" "55" "M" "14368" "14368" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-03 03:25:22" "chrM_001132" "m.14368C>G" "" "" "" "rs2853816" "subst" "0" ";" "-7.540" "" "" "" "" "MSCV_0004032" "" "0000004033" "0" "55" "M" "14377" "14377" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001133" "m.14377C>T" "" "" "" "rs56407536" "subst" "0" ";" "-2.610" "" "" "" "" "MSCV_0004033" "" "0000004037" "0" "77" "M" "14430" "14430" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:31:07" "chrM_001134" "m.14430A>G" "" "" "" "" "subst" "0" "; Mitomap;" "3.520" "" "" "" "" "MSCV_0004037" "" "0000004040" "0" "55" "M" "14470" "14470" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 18:49:29" "chrM_001135" "m.14470T>C" "" "" "" "rs3135030" "subst" "0" ";" "-8.090" "" "" "" "" "MSCV_0004040" "" "0000004047" "0" "99" "M" "14498" "14498" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001136" "m.14498T>C" "" "" "" "" "subst" "0" "; Mitomap; clinvar;" "4.050" "" "" "" "" "MSCV_0004047" "" "0000004048" "0" "77" "M" "14502" "14502" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:43:10" "chrM_001137" "m.14502T>C" "" "" "" "rs201327354" "subst" "0" "; Mitomap;" "2.950" "" "" "" "" "MSCV_0004048" "" "0000004053" "0" "55" "M" "14560" "14560" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:21:34" "chrM_001047" "m.14560G>A" "" "" "" "rs28357676" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004053" "" "0000004054" "0" "55" "M" "14566" "14566" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 12:33:30" "chrM_001048" "m.14566A>G" "" "" "" "rs28357677" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004054" "" "0000004056" "0" "77" "M" "14577" "14577" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001049" "m.14577T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-0.976" "" "" "" "" "MSCV_0004056" "" "0000004057" "0" "55" "M" "14580" "14580" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-02-28 13:08:22" "chrM_001050" "m.14580A>G" "" "" "" "rs28496897" "subst" "0" ";" "2.380" "" "" "" "" "MSCV_0004057" "" "0000004058" "0" "55" "M" "14582" "14582" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-05-25 05:53:29" "chrM_001051" "m.14582A>G" "" "" "" "rs41354845" "subst" "0" ";" "-1.610" "" "" "" "" "MSCV_0004058" "" "0000004060" "0" "77" "M" "14600" "14600" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 12:21:34" "chrM_000438" "m.14600G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004060" "" "0000004062" "0" "77" "M" "14668" "14668" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-08 12:17:17" "chrM_000439" "m.14668C>T" "" "" "" "rs28357678" "subst" "0" "; Mitomap;" "-8.300" "" "" "" "" "MSCV_0004062" "" ## 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 = 43 "{{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}}" "0000001489" "00001348" "77" "0" "0" "0" "0" "c.355A>G" "." "p.N119D" "r.(?)" "" "" "" "" "" "-" "0000001490" "00001348" "99" "0" "0" "0" "0" "c.349A>G" "." "p.N117D" "r.(?)" "" "" "" "" "" "-" "0000001491" "00001348" "99" "0" "0" "0" "0" "c.221C>T" "." "p.A74V" "r.(?)" "" "" "" "" "" "-" "0000001492" "00001348" "99" "0" "0" "0" "0" "c.215C>T" "." "p.A72V" "r.(?)" "" "" "" "" "" "-" "0000001493" "00001348" "99" "0" "0" "0" "0" "c.192G>T" "." "p.M64I" "r.(?)" "" "" "" "" "" "-" "0000001494" "00001348" "99" "0" "0" "0" "0" "c.192G>C" "." "p.M64I" "r.(?)" "" "" "" "" "" "-" "0000001495" "00001348" "99" "0" "0" "0" "0" "c.192G>A" "." "p.M64M" "r.(?)" "" "" "" "" "" "-" "0000001496" "00001348" "99" "0" "0" "0" "0" "c.190A>G" "." "p.M64V" "r.(?)" "" "" "" "" "" "-" "0000001497" "00001348" "99" "0" "0" "0" "0" "c.187A>G" "." "p.M63V" "r.(?)" "" "" "" "" "" "-" "0000001498" "00001348" "99" "0" "0" "0" "0" "c.179T>C" "." "p.L60S" "r.(?)" "" "" "" "" "" "-" "0000001499" "00001348" "99" "0" "0" "0" "0" "c.106G>A" "." "p.G36S" "r.(?)" "" "" "" "" "" "-" "0000001500" "00001348" "99" "0" "0" "0" "0" "c.78T>A" "." "p.I26M" "r.(?)" "" "" "" "" "" "-" "0000004010" "00001348" "55" "0" "0" "0" "0" "c.522T>C" "." "p.N174N" "r.(?)" "" "" "" "" "" "-" "0000004011" "00001348" "77" "0" "0" "0" "0" "c.511G>A" "." "p.A171T" "r.(?)" "" "" "" "" "" "-" "0000004012" "00001348" "55" "0" "0" "0" "0" "c.507G>A" "." "p.E169E" "r.(?)" "" "" "" "" "" "-" "0000004013" "00001348" "55" "0" "0" "0" "0" "c.496A>G" "." "p.I166V" "r.(?)" "" "" "" "" "" "-" "0000004014" "00001348" "55" "0" "0" "0" "0" "c.494A>G" "." "p.T165C" "r.(?)" "" "" "" "" "" "-" "0000004016" "00001348" "55" "0" "0" "0" "0" "c.475A>C" "." "p.T159P" "r.(?)" "" "" "" "" "" "-" "0000004017" "00001348" "55" "0" "0" "0" "0" "c.471T>C" "." "p.G157G" "r.(?)" "" "" "" "" "" "-" "0000004019" "00001348" "55" "0" "0" "0" "0" "c.462A>G" "." "p.V154V" "r.(?)" "" "" "" "" "" "-" "0000004020" "00001348" "55" "0" "0" "0" "0" "c.456A>G" "." "p.L152L" "r.(?)" "" "" "" "" "" "-" "0000004021" "00001348" "55" "0" "0" "0" "0" "c.441T>C" "." "p.D147D" "r.(?)" "" "" "" "" "" "-" "0000004022" "00001348" "55" "0" "0" "0" "0" "c.416C>T" "." "p.P139L" "r.(?)" "" "" "" "" "" "-" "0000004023" "00001348" "55" "0" "0" "0" "0" "c.402G>C" "." "p.L134F" "r.(?)" "" "" "" "" "" "-" "0000004024" "00001348" "77" "0" "0" "0" "0" "c.395C>T" "." "p.S132L" "r.(?)" "" "" "" "" "" "-" "0000004025" "00001348" "55" "0" "0" "0" "0" "c.390G>A" "." "p.E130E" "r.(?)" "" "" "" "" "" "-" "0000004026" "00001348" "55" "0" "0" "0" "0" "c.366A>G" "." "p.G122G" "r.(?)" "" "" "" "" "" "-" "0000004027" "00001348" "55" "0" "0" "0" "0" "c.356A>G" "." "p.N119S" "r.(?)" "" "" "" "" "" "-" "0000004030" "00001348" "77" "0" "0" "0" "0" "c.334G>A" "." "p.V112M" "r.(?)" "" "" "" "" "" "-" "0000004031" "00001348" "55" "0" "0" "0" "0" "c.309G>C" "." "p.V103V" "r.(?)" "" "" "" "" "" "-" "0000004032" "00001348" "55" "0" "0" "0" "0" "c.306G>C" "." "p.L102F" "r.(?)" "" "" "" "" "" "-" "0000004033" "00001348" "55" "0" "0" "0" "0" "c.297G>A" "." "p.E99E" "r.(?)" "" "" "" "" "" "-" "0000004037" "00001348" "77" "0" "0" "0" "0" "c.244T>C" "." "p.W82R" "r.(?)" "" "" "" "" "" "-" "0000004040" "00001348" "55" "0" "0" "0" "0" "c.204A>G" "." "p.G68G" "r.(?)" "" "" "" "" "" "-" "0000004047" "00001348" "99" "0" "0" "0" "0" "c.176A>G" "." "p.T59C" "r.(?)" "" "" "" "" "" "-" "0000004048" "00001348" "77" "0" "0" "0" "0" "c.172A>G" "." "p.I58V" "r.(?)" "" "" "" "" "" "-" "0000004053" "00001348" "55" "0" "0" "0" "0" "c.114C>T" "." "p.V38V" "r.(?)" "" "" "" "" "" "-" "0000004054" "00001348" "55" "0" "0" "0" "0" "c.108T>C" "." "p.G36G" "r.(?)" "" "" "" "" "" "-" "0000004056" "00001348" "77" "0" "0" "0" "0" "c.97A>G" "." "p.I33V" "r.(?)" "" "" "" "" "" "-" "0000004057" "00001348" "55" "0" "0" "0" "0" "c.94T>C" "." "p.L32L" "r.(?)" "" "" "" "" "" "-" "0000004058" "00001348" "55" "0" "0" "0" "0" "c.92T>C" "." "p.V31A" "r.(?)" "" "" "" "" "" "-" "0000004060" "00001348" "77" "0" "0" "0" "0" "c.74C>T" "." "p.P25L" "r.(?)" "" "" "" "" "" "-" "0000004062" "00001348" "77" "0" "0" "0" "0" "c.6G>A" "." "p.M2M" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0