### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-CYB) # 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-CYB" "mitochondrially encoded cytochrome b" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7427" "4519" "516020" "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}}" "00001350" "MT-CYB" "MT-CYB-201" "000" "MT-CYB-201" "ENST00000361789" "" "ENSP00000354554" "" "" "0" "0" "0" "14747" "15887" "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" "" "00114" "601665" "Obesity, autosomal dominant, 601665 (3)" "601665" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" "00151" "500000" "CARDIOMYOPATHY, INFANTILE HISTIOCYTOID" "500000" "" "" "" "00001" "2013-11-16 09:57:27" "" "" "" "00465" "MTCYB" "CYTOCHROME b OF COMPLEX III; MTCYB" "516020" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "MT-CYB" "00072" "MT-CYB" "00114" "MT-CYB" "00151" "MT-CYB" "00465" ## 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 = 90 "{{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}}" "0000001504" "0" "77" "M" "14783" "14786" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 03:30:42" "chrM_000041" "m.14783_14786del" "" "" "" "" "del" "0" "; Ensembl;" "" "" "" "" "" "MSCV_0001504" "" "0000001505" "0" "99" "M" "14831" "14831" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 00:57:57" "chrM_000042" "m.14831G>A" "" "{PMID:20301353:20301353}" "" "rs199795644" "subst" "0" "; clinVar; Mitomap; ensembl;" "-8.300" "" "" "" "" "MSCV_0001505" "" "0000001506" "0" "99" "M" "14846" "14846" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-11 02:52:41" "chrM_000043" "m.14846G>A" "" "{PMID:10502593:10502593}" "" "rs207459998" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.150" "" "" "" "" "MSCV_0001506" "" "0000001507" "0" "99" "M" "14849" "14849" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-21 05:25:51" "chrM_000044" "m.14849T>C" "" "{PMID:11891837:11891837}" "" "rs207460004" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.150" "" "" "" "" "MSCV_0001507" "" "0000001508" "0" "99" "M" "14985" "14985" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 12:22:56" "chrM_000045" "m.14985G>A" "" "{PMID:9806551:9806551};{PMID:13298683:13298683}" "" "rs207459995" "subst" "0" "; clinVar; Ensembl;" "4.150" "" "" "" "" "MSCV_0001508" "" "0000001509" "0" "99" "M" "15197" "15197" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-19 02:01:17" "chrM_000046" "m.15197T>C" "" "{PMID:11464242:11464242}" "" "rs207460001" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.150" "" "" "" "" "MSCV_0001509" "" "0000001510" "0" "99" "M" "15242" "15242" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-22 11:29:14" "chrM_000047" "m.15242G>A" "" "{PMID:11047755:11047755}" "" "rs207459999" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.150" "" "" "" "" "MSCV_0001510" "" "0000001511" "0" "99" "M" "15257" "15257" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-10 21:13:35" "chrM_000048" "m.15257G>A" "" "{PMID:7635294:7635294};{PMID:1732158:1732158};{PMID:1764087:1764087};{PMID:7901141:7901141};{PMID:8755941:8755941};{PMID:20301353:20301353};{PMID:8240104:8240104};{PMID:8321540:8321540}" "" "rs41518645" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.340" "" "" "" "" "MSCV_0001511" "" "0000001512" "0" "77" "M" "15497" "15497" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-10 23:33:53" "chrM_000049" "m.15497G>A" "" "{PMID:12905068:12905068}" "" "rs199951903" "subst" "0" "; clinVar; Mitomap; ensembl;" "2.280" "" "" "" "" "MSCV_0001512" "" "0000001513" "0" "99" "M" "15498" "15498" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-16 07:17:12" "chrM_000050" "m.15498G>A" "" "{PMID:10960495:10960495}" "" "rs207460003" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.130" "" "" "" "" "MSCV_0001513" "" "0000001514" "0" "99" "M" "15572" "15572" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-10 23:36:54" "chrM_000169" "m.15572T>C" "" "{PMID:9806551:9806551}" "" "rs207459996" "subst" "0" "; clinVar; Ensembl;" "4.290" "" "" "" "" "MSCV_0001514" "" "0000001515" "0" "99" "M" "15579" "15579" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-16 09:48:43" "chrM_000170" "m.15579A>G" "" "{PMID:11601507:11601507}" "" "rs207460002" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.290" "" "" "" "" "MSCV_0001515" "" "0000001516" "0" "99" "M" "15615" "15615" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-04-21 10:29:01" "chrM_000171" "m.15615G>A" "" "{PMID:8186719:8186719};{PMID:10502593:10502593};{PMID:8910895:8910895}" "" "rs207459997" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.010" "" "" "" "" "MSCV_0001516" "" "0000001517" "0" "99" "M" "15812" "15812" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 12:29:29" "chrM_000172" "m.15812G>A" "" "{PMID:1732158:1732158};{PMID:1764087:1764087}" "" "rs200336777" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-2.890" "" "" "" "" "MSCV_0001517" "" "0000004076" "0" "77" "M" "14766" "14766" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 22:50:24" "chrM_000449" "m.14766C>T" "" "" "" "rs3135031" "subst" "0" ";" "1.980" "" "" "" "" "MSCV_0004076" "" "0000004077" "0" "55" "M" "14769" "14769" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-23 22:51:09" "chrM_000450" "m.14769A>G" "" "" "" "rs28357679" "subst" "0" ";" "4.150" "" "" "" "" "MSCV_0004077" "" "0000004078" "0" "77" "M" "14783" "14783" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 22:17:06" "chrM_000451" "m.14783T>C" "" "" "" "rs28357680" "subst" "0" "; Ensembl;" "1.110" "" "" "" "" "MSCV_0004078" "" "0000004080" "0" "99" "M" "14787" "14790" "del" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 22:03:59" "chrM_000452" "m.14787_14790del" "" "{PMID:9894888:9894888}" "" "rs207460005" "del" "0" "; clinvar; ensembl;" "" "" "" "" "" "MSCV_0004080" "" "0000004082" "0" "55" "M" "14793" "14793" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 01:19:21" "chrM_000453" "m.14793A>G" "" "" "" "rs2853504" "subst" "0" ";" "1.300" "" "" "" "" "MSCV_0004082" "" "0000004083" "0" "55" "M" "14798" "14798" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:12:25" "chrM_000454" "m.14798T>C" "" "" "" "rs28357681" "subst" "0" ";" "-0.392" "" "" "" "" "MSCV_0004083" "" "0000004085" "0" "77" "M" "14841" "14841" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 18:49:30" "chrM_000455" "m.14841A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004085" "" "0000004088" "0" "55" "M" "14861" "14861" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 04:04:49" "chrM_001052" "m.14861G>A" "" "" "" "rs2853505" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004088" "" "0000004089" "0" "55" "M" "14871" "14871" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 02:31:36" "chrM_001053" "m.14871T>C" "" "" "" "rs28660155" "subst" "0" ";" "0.588" "" "" "" "" "MSCV_0004089" "" "0000004091" "0" "77" "M" "14905" "14905" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:23:36" "chrM_001054" "m.14905G>A" "" "" "" "rs28357682" "subst" "0" ";" "-0.329" "" "" "" "" "MSCV_0004091" "" "0000004092" "0" "55" "M" "14911" "14911" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:00:59" "chrM_001055" "m.14911C>T" "" "" "" "rs28357683" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004092" "" "0000004093" "0" "55" "M" "14916" "14916" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 03:18:17" "chrM_001056" "m.14916C>A" "" "" "" "rs56787243" "subst" "0" ";" "4.150" "" "" "" "" "MSCV_0004093" "" "0000004094" "0" "55" "M" "14927" "14927" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-24 05:10:04" "chrM_001057" "m.14927A>G" "" "" "" "rs201551481" "subst" "0" ";" "2.760" "" "" "" "" "MSCV_0004094" "" "0000004097" "0" "55" "M" "14978" "14978" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-07-10 08:35:43" "chrM_001058" "m.14978A>G" "" "" "" "rs199997767" "subst" "0" ";" "-6.610" "" "" "" "" "MSCV_0004097" "" "0000004098" "0" "55" "M" "14979" "14979" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 01:27:40" "chrM_001059" "m.14979T>C" "" "" "" "rs200786872" "subst" "0" ";" "2.100" "" "" "" "" "MSCV_0004098" "" "0000004102" "0" "77" "M" "15024" "15024" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 20:51:55" "chrM_001060" "m.15024G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.310" "" "" "" "" "MSCV_0004102" "" "0000004103" "0" "55" "M" "15038" "15038" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:02:07" "chrM_001061" "m.15038A>G" "" "" "" "rs202045169" "subst" "0" ";" "-2.700" "" "" "" "" "MSCV_0004103" "" "0000004104" "0" "77" "M" "15043" "15043" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-18 01:39:09" "chrM_001062" "m.15043G>A" "" "" "" "rs28357684" "subst" "0" "; Mitomap;" "-8.300" "" "" "" "" "MSCV_0004104" "" "0000004105" "0" "77" "M" "15059" "15059" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 01:31:44" "chrM_001063" "m.15059G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004105" "" "0000004106" "0" "55" "M" "15071" "15071" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 01:07:59" "chrM_001064" "m.15071T>C" "" "" "" "rs199999794" "subst" "0" ";" "0.946" "" "" "" "" "MSCV_0004106" "" "0000004107" "0" "55" "M" "15074" "15074" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 01:40:46" "chrM_000808" "m.15074T>C" "" "" "" "rs201169089" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004107" "" "0000004108" "0" "77" "M" "15077" "15077" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-21 07:57:26" "chrM_000809" "m.15077G>A" "" "" "" "rs201943501" "subst" "0" "; Mitomap;" "3.340" "" "" "" "" "MSCV_0004108" "" "0000004109" "0" "77" "M" "15084" "15084" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-13 15:38:58" "chrM_000810" "m.15084G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004109" "" "0000004111" "0" "55" "M" "15110" "15110" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-20 18:21:17" "chrM_000811" "m.15110G>A" "" "" "" "rs28357685" "subst" "0" ";" "-6.930" "" "" "" "" "MSCV_0004111" "" "0000004112" "0" "55" "M" "15115" "15115" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 03:41:25" "chrM_000812" "m.15115T>C" "" "" "" "rs28357686" "subst" "0" ";" "-8.570" "" "" "" "" "MSCV_0004112" "" "0000004113" "0" "55" "M" "15119" "15119" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:32:40" "chrM_000813" "m.15119G>A" "" "" "" "rs201194402" "subst" "0" ";" "2.640" "" "" "" "" "MSCV_0004113" "" "0000004114" "0" "55" "M" "15136" "15136" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:57:35" "chrM_000814" "m.15136C>T" "" "" "" "rs2854124" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004114" "" "0000004115" "0" "99" "M" "15150" "15150" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-10 14:32:30" "chrM_000815" "m.15150G>A" "" "{PMID:11464242:11464242}" "" "rs207460000" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.150" "" "" "" "" "MSCV_0004115" "" "0000004116" "0" "77" "M" "15168" "15168" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-20 18:20:44" "chrM_000816" "m.15168G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004116" "" "0000004119" "0" "55" "M" "15204" "15204" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:45:45" "chrM_000817" "m.15204T>C" "" "" "" "rs28357687" "subst" "0" ";" "4.150" "" "" "" "" "MSCV_0004119" "" "0000004120" "0" "55" "M" "15217" "15217" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:06:45" "chrM_000818" "m.15217G>A" "" "" "" "rs28357368" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004120" "" "0000004121" "0" "55" "M" "15218" "15218" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 22:27:24" "chrM_000819" "m.15218A>G" "" "" "" "rs2853506" "subst" "0" ";" "1.020" "" "" "" "" "MSCV_0004121" "" "0000004122" "0" "55" "M" "15223" "15223" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 03:36:21" "chrM_000820" "m.15223C>T" "" "" "" "rs3134742" "subst" "0" ";" "-7.590" "" "" "" "" "MSCV_0004122" "" "0000004123" "0" "55" "M" "15236" "15236" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-20 18:24:56" "chrM_000821" "m.15236A>G" "" "" "" "rs201250154" "subst" "0" ";" "2.810" "" "" "" "" "MSCV_0004123" "" "0000004125" "0" "77" "M" "15243" "15243" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:44:24" "chrM_000822" "m.15243G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004125" "" "0000004126" "0" "55" "M" "15244" "15244" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-20 20:35:22" "chrM_000823" "m.15244A>G" "" "" "" "rs28357369" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004126" "" "0000004128" "0" "55" "M" "15263" "15263" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:54:30" "chrM_000824" "m.15263C>T" "" "" "" "rs200455825" "subst" "0" ";" "3.330" "" "" "" "" "MSCV_0004128" "" "0000004129" "0" "77" "M" "15287" "15287" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-24 00:06:57" "chrM_000825" "m.15287T>C" "" "" "" "" "subst" "0" "; Mitomap;" "0.841" "" "" "" "" "MSCV_0004129" "" "0000004131" "0" "77" "M" "15301" "15301" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-14 03:02:49" "chrM_000826" "m.15301G>A" "" "" "" "rs28573847" "subst" "0" ";" "-8.300" "" "" "" "" "MSCV_0004131" "" "0000004132" "0" "55" "M" "15311" "15311" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:48:48" "chrM_000827" "m.15311A>G" "" "" "" "rs35070048" "subst" "0" ";" "2.790" "" "" "" "" "MSCV_0004132" "" "0000004133" "0" "77" "M" "15314" "15314" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:28:22" "chrM_000828" "m.15314G>A" "" "" "" "rs199627956" "subst" "0" ";" "-5.460" "" "" "" "" "MSCV_0004133" "" "0000004134" "0" "55" "M" "15317" "15317" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:44:41" "chrM_000829" "m.15317G>A" "" "" "" "rs2853507" "subst" "0" ";" "3.330" "" "" "" "" "MSCV_0004134" "" "0000004135" "0" "77" "M" "15323" "15323" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-21 02:54:17" "chrM_001065" "m.15323G>A" "" "" "" "rs200487235" "subst" "0" ";" "3.330" "" "" "" "" "MSCV_0004135" "" "0000004136" "0" "77" "M" "15326" "15326" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 19:10:38" "chrM_001066" "m.15326A>G" "" "" "" "rs2853508" "subst" "0" ";" "-8.040" "" "" "" "" "MSCV_0004136" "" "0000004138" "0" "55" "M" "15381" "15381" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 01:02:58" "chrM_001067" "m.15381C>T" "" "" "" "rs199721378" "subst" "0" ";" "-4.460" "" "" "" "" "MSCV_0004138" "" "0000004139" "0" "77" "M" "15395" "15395" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-23 12:44:54" "chrM_001138" "m.15395A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.150" "" "" "" "" "MSCV_0004139" "" "0000004140" "0" "55" "M" "15402" "15402" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-04 10:11:04" "chrM_001139" "m.15402C>T" "" "" "" "rs200521299" "subst" "0" ";" "3.940" "" "" "" "" "MSCV_0004140" "" "0000004141" "0" "77" "M" "15431" "15431" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 02:17:01" "chrM_001140" "m.15431G>A" "" "" "" "rs2853509" "subst" "0" ";" "-4.910" "" "" "" "" "MSCV_0004141" "" "0000004142" "0" "77" "M" "15452" "15452" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 02:35:37" "chrM_000516" "m.15452C>A" "" "" "" "rs3088309" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004142" "" "0000004143" "0" "77" "M" "15458" "15458" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 04:10:54" "chrM_000517" "m.15458T>C" "" "" "" "rs200886726" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004143" "" "0000004144" "0" "55" "M" "15479" "15479" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:05:24" "chrM_000518" "m.15479T>C" "" "" "" "rs202008188" "subst" "0" ";" "1.840" "" "" "" "" "MSCV_0004144" "" "0000004145" "0" "55" "M" "15487" "15487" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:16:26" "chrM_000519" "m.15487A>T" "" "" "" "rs28357370" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004145" "" "0000004149" "0" "55" "M" "15508" "15508" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-20 23:06:56" "chrM_000520" "m.15508C>T" "" "" "" "rs3134743" "subst" "0" ";" "-6.400" "" "" "" "" "MSCV_0004149" "" "0000004150" "0" "55" "M" "15519" "15519" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-08-29 10:28:02" "chrM_000521" "m.15519T>C" "" "" "" "rs200913192" "subst" "0" ";" "2.910" "" "" "" "" "MSCV_0004150" "" "0000004151" "0" "55" "M" "15535" "15535" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:35:39" "chrM_000522" "m.15535C>T" "" "" "" "rs28357371" "subst" "0" ";" "-5.900" "" "" "" "" "MSCV_0004151" "" "0000004157" "0" "77" "M" "15607" "15607" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-06-13 15:47:32" "chrM_000523" "m.15607A>G" "" "" "" "rs28357372" "subst" "0" ";" "3.940" "" "" "" "" "MSCV_0004157" "" "0000004159" "0" "55" "M" "15629" "15629" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-21 19:19:28" "chrM_000524" "m.15629T>C" "" "" "" "rs28357373" "subst" "0" ";" "-8.140" "" "" "" "" "MSCV_0004159" "" "0000004160" "0" "77" "M" "15662" "15662" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 23:58:37" "chrM_000525" "m.15662A>G" "" "" "" "rs3094280" "subst" "0" "; Mitomap;" "-8.010" "" "" "" "" "MSCV_0004160" "" "0000004161" "0" "77" "M" "15670" "15670" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 19:58:32" "chrM_000526" "m.15670T>C" "" "" "" "rs28357374" "subst" "0" ";" "-2.330" "" "" "" "" "MSCV_0004161" "" "0000004162" "0" "55" "M" "15672" "15672" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-21 23:06:49" "chrM_000527" "m.15672T>C" "" "" "" "rs199967113" "subst" "0" ";" "-4.110" "" "" "" "" "MSCV_0004162" "" "0000004163" "0" "77" "M" "15674" "15674" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-22 20:19:43" "chrM_000528" "m.15674T>C" "" "" "" "" "subst" "0" "; Mitomap;" "2.990" "" "" "" "" "MSCV_0004163" "" "0000004164" "0" "77" "M" "15693" "15693" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:59:53" "chrM_000529" "m.15693T>C" "" "" "" "rs200975632" "subst" "0" "; Mitomap;" "-2.140" "" "" "" "" "MSCV_0004164" "" "0000004165" "0" "77" "M" "15699" "15699" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-27 21:38:30" "chrM_000530" "m.15699G>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.010" "" "" "" "" "MSCV_0004165" "" "0000004166" "0" "77" "M" "15723" "15723" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-20 18:23:50" "chrM_000531" "m.15723G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.940" "" "" "" "" "MSCV_0004166" "" "0000004167" "0" "77" "M" "15758" "15758" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-14 14:47:32" "chrM_000532" "m.15758A>G" "" "" "" "rs41337244" "subst" "0" ";" "3.940" "" "" "" "" "MSCV_0004167" "" "0000004168" "0" "77" "M" "15761" "15761" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:21:15" "chrM_000533" "m.15761G>X" "" "" "" "" "subst" "0" "; Mitomap;" "3.940" "" "" "" "" "MSCV_0004168" "" "0000004169" "0" "77" "M" "15762" "15762" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-16 08:32:59" "chrM_000534" "m.15762G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.940" "" "" "" "" "MSCV_0004169" "" "0000004170" "0" "77" "M" "15773" "15773" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-07-31 06:37:10" "chrM_000535" "m.15773G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.940" "" "" "" "" "MSCV_0004170" "" "0000004171" "0" "77" "M" "15784" "15784" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:33:41" "chrM_001141" "m.15784T>C" "" "" "" "rs28357375" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004171" "" "0000004172" "0" "77" "M" "15800" "15800" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-11 00:04:38" "chrM_001142" "m.15800C>T" "" "" "" "" "subst" "0" "; Mitomap;" "3.940" "" "" "" "" "MSCV_0004172" "" "0000004174" "0" "55" "M" "15824" "15824" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-21 11:44:46" "chrM_001143" "m.15824A>G" "" "" "" "rs28357376" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004174" "" "0000004175" "0" "55" "M" "15833" "15833" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-23 15:19:48" "chrM_001144" "m.15833C>T" "" "" "" "rs41504845" "subst" "0" ";" "-2.490" "" "" "" "" "MSCV_0004175" "" "0000004176" "0" "55" "M" "15849" "15849" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 22:20:07" "chrM_001145" "m.15849C>T" "" "" "" "rs202225494" "subst" "0" ";" "-0.714" "" "" "" "" "MSCV_0004176" "" "0000004177" "0" "55" "M" "15851" "15851" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:50:50" "chrM_001146" "m.15851A>G" "" "" "" "rs3094281" "subst" "0" ";" "-5.510" "" "" "" "" "MSCV_0004177" "" "0000004178" "0" "55" "M" "15860" "15860" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-04-10 21:20:24" "chrM_001147" "m.15860A>G" "" "" "" "rs201023973" "subst" "0" ";" "-7.880" "" "" "" "" "MSCV_0004178" "" "0000004179" "0" "77" "M" "15884" "15884" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-23 17:48:01" "chrM_001148" "m.15884G>A" "" "" "" "rs28617642" "subst" "0" ";" "-2.530" "" "" "" "" "MSCV_0004179" "" ## 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 = 90 "{{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}}" "0000001504" "00001350" "77" "0" "0" "0" "0" "c.41_44del" "." "p.I14NA" "r.(?)" "" "" "" "" "" "-" "0000001505" "00001350" "99" "0" "0" "0" "0" "c.85G>A" "." "p.A29T" "r.(?)" "" "" "" "" "" "-" "0000001506" "00001350" "99" "0" "0" "0" "0" "c.100G>A" "." "p.G34S" "r.(?)" "" "" "" "" "" "-" "0000001507" "00001350" "99" "0" "0" "0" "0" "c.103T>C" "." "p.S35P" "r.(?)" "" "" "" "" "" "-" "0000001508" "00001350" "99" "0" "0" "0" "0" "c.239G>A" "." "p.R80H" "r.(?)" "" "" "" "" "" "-" "0000001509" "00001350" "99" "0" "0" "0" "0" "c.451T>C" "." "p.S151P" "r.(?)" "" "" "" "" "" "-" "0000001510" "00001350" "99" "0" "0" "0" "0" "c.496G>A" "." "p.G166*" "r.(?)" "" "" "" "" "" "-" "0000001511" "00001350" "99" "0" "0" "0" "0" "c.511G>A" "." "p.D171N" "r.(?)" "" "" "" "" "" "-" "0000001512" "00001350" "77" "0" "0" "0" "0" "c.751G>A" "." "p.G251S" "r.(?)" "" "" "" "" "" "-" "0000001513" "00001350" "99" "0" "0" "0" "0" "c.752G>A" "." "p.G251D" "r.(?)" "" "" "" "" "" "-" "0000001514" "00001350" "99" "0" "0" "0" "0" "c.826T>C" "." "p.F276L" "r.(?)" "" "" "" "" "" "-" "0000001515" "00001350" "99" "0" "0" "0" "0" "c.833A>G" "." "p.T278C" "r.(?)" "" "" "" "" "" "-" "0000001516" "00001350" "99" "0" "0" "0" "0" "c.869G>A" "." "p.G290D" "r.(?)" "" "" "" "" "" "-" "0000001517" "00001350" "99" "0" "0" "0" "0" "c.1066G>A" "." "p.V356M" "r.(?)" "" "" "" "" "" "-" "0000004076" "00001350" "55" "0" "0" "0" "0" "c.20C>T" "." "p.T7I" "r.(?)" "" "" "" "" "" "-" "0000004077" "00001350" "55" "0" "0" "0" "0" "c.23A>G" "." "p.N8S" "r.(?)" "" "" "" "" "" "-" "0000004078" "00001350" "77" "0" "0" "0" "0" "c.37T>C" "." "p.L13L" "r.(?)" "" "" "" "" "" "-" "0000004080" "00001350" "99" "0" "0" "0" "0" "c.42_44del" "." "p.I14NA" "r.(?)" "" "" "" "" "" "-" "0000004082" "00001350" "55" "0" "0" "0" "0" "c.47A>G" "." "p.H16R" "r.(?)" "" "" "" "" "" "-" "0000004083" "00001350" "55" "0" "0" "0" "0" "c.52T>C" "." "p.F18L" "r.(?)" "" "" "" "" "" "-" "0000004085" "00001350" "77" "0" "0" "0" "0" "c.95A>G" "." "p.N32S" "r.(?)" "" "" "" "" "" "-" "0000004088" "00001350" "55" "0" "0" "0" "0" "c.115G>A" "." "p.A39T" "r.(?)" "" "" "" "" "" "-" "0000004089" "00001350" "55" "0" "0" "0" "0" "c.125T>C" "." "p.I42T" "r.(?)" "" "" "" "" "" "-" "0000004091" "00001350" "55" "0" "0" "0" "0" "c.159G>A" "." "p.M53M" "r.(?)" "" "" "" "" "" "-" "0000004092" "00001350" "55" "0" "0" "0" "0" "c.165C>T" "." "p.T55T" "r.(?)" "" "" "" "" "" "-" "0000004093" "00001350" "55" "0" "0" "0" "0" "c.170C>A" "." "p.P57Q" "r.(?)" "" "" "" "" "" "-" "0000004094" "00001350" "55" "0" "0" "0" "0" "c.181A>G" "." "p.T61A" "r.(?)" "" "" "" "" "" "-" "0000004097" "00001350" "55" "0" "0" "0" "0" "c.232A>G" "." "p.I78V" "r.(?)" "" "" "" "" "" "-" "0000004098" "00001350" "55" "0" "0" "0" "0" "c.233T>C" "." "p.I78T" "r.(?)" "" "" "" "" "" "-" "0000004102" "00001350" "77" "0" "0" "0" "0" "c.278G>A" "." "p.C93T" "r.(?)" "" "" "" "" "" "-" "0000004103" "00001350" "55" "0" "0" "0" "0" "c.292A>G" "." "p.I98V" "r.(?)" "" "" "" "" "" "-" "0000004104" "00001350" "77" "0" "0" "0" "0" "c.297G>A" "." "p.G99G" "r.(?)" "" "" "" "" "" "-" "0000004105" "00001350" "77" "0" "0" "0" "0" "c.313G>A" "." "p.G105*" "r.(?)" "" "" "" "" "" "-" "0000004106" "00001350" "55" "0" "0" "0" "0" "c.325T>C" "." "p.T109H" "r.(?)" "" "" "" "" "" "-" "0000004107" "00001350" "55" "0" "0" "0" "0" "c.328T>C" "." "p.S110P" "r.(?)" "" "" "" "" "" "-" "0000004108" "00001350" "77" "0" "0" "0" "0" "c.331G>A" "." "p.E111K" "r.(?)" "" "" "" "" "" "-" "0000004109" "00001350" "77" "0" "0" "0" "0" "c.338G>A" "." "p.W113*" "r.(?)" "" "" "" "" "" "-" "0000004111" "00001350" "55" "0" "0" "0" "0" "c.364G>A" "." "p.A122T" "r.(?)" "" "" "" "" "" "-" "0000004112" "00001350" "55" "0" "0" "0" "0" "c.369T>C" "." "p.T123T" "r.(?)" "" "" "" "" "" "-" "0000004113" "00001350" "55" "0" "0" "0" "0" "c.373G>A" "." "p.A125T" "r.(?)" "" "" "" "" "" "-" "0000004114" "00001350" "55" "0" "0" "0" "0" "c.390C>T" "." "p.G130G" "r.(?)" "" "" "" "" "" "-" "0000004115" "00001350" "99" "0" "0" "0" "0" "c.404G>A" "." "p.W135*" "r.(?)" "" "" "" "" "" "-" "0000004116" "00001350" "77" "0" "0" "0" "0" "c.422G>A" "." "p.W141*" "r.(?)" "" "" "" "" "" "-" "0000004119" "00001350" "55" "0" "0" "0" "0" "c.458T>C" "." "p.I153T" "r.(?)" "" "" "" "" "" "-" "0000004120" "00001350" "55" "0" "0" "0" "0" "c.471G>A" "." "p.G157G" "r.(?)" "" "" "" "" "" "-" "0000004121" "00001350" "55" "0" "0" "0" "0" "c.472A>G" "." "p.T158A" "r.(?)" "" "" "" "" "" "-" "0000004122" "00001350" "55" "0" "0" "0" "0" "c.477C>T" "." "p.D159D" "r.(?)" "" "" "" "" "" "-" "0000004123" "00001350" "55" "0" "0" "0" "0" "c.490A>G" "." "p.I164V" "r.(?)" "" "" "" "" "" "-" "0000004125" "00001350" "77" "0" "0" "0" "0" "c.497G>A" "." "p.G166E" "r.(?)" "" "" "" "" "" "-" "0000004126" "00001350" "55" "0" "0" "0" "0" "c.498A>G" "." "p.G166G" "r.(?)" "" "" "" "" "" "-" "0000004128" "00001350" "55" "0" "0" "0" "0" "c.517C>T" "." "p.P173S" "r.(?)" "" "" "" "" "" "-" "0000004129" "00001350" "77" "0" "0" "0" "0" "c.541T>C" "." "p.F181L" "r.(?)" "" "" "" "" "" "-" "0000004131" "00001350" "55" "0" "0" "0" "0" "c.555G>A" "." "p.L185L" "r.(?)" "" "" "" "" "" "-" "0000004132" "00001350" "55" "0" "0" "0" "0" "c.565A>G" "." "p.I189V" "r.(?)" "" "" "" "" "" "-" "0000004133" "00001350" "55" "0" "0" "0" "0" "c.568G>A" "." "p.A190T" "r.(?)" "" "" "" "" "" "-" "0000004134" "00001350" "55" "0" "0" "0" "0" "c.571G>A" "." "p.A191T" "r.(?)" "" "" "" "" "" "-" "0000004135" "00001350" "55" "0" "0" "0" "0" "c.577G>A" "." "p.A193T" "r.(?)" "" "" "" "" "" "-" "0000004136" "00001350" "55" "0" "0" "0" "0" "c.580A>G" "." "p.T194A" "r.(?)" "" "" "" "" "" "-" "0000004138" "00001350" "55" "0" "0" "0" "0" "c.635C>T" "." "p.T212I" "r.(?)" "" "" "" "" "" "-" "0000004139" "00001350" "77" "0" "0" "0" "0" "c.649A>G" "." "p.K217E" "r.(?)" "" "" "" "" "" "-" "0000004140" "00001350" "55" "0" "0" "0" "0" "c.656C>T" "." "p.T219I" "r.(?)" "" "" "" "" "" "-" "0000004141" "00001350" "55" "0" "0" "0" "0" "c.685G>A" "." "p.A229T" "r.(?)" "" "" "" "" "" "-" "0000004142" "00001350" "55" "0" "0" "0" "0" "c.706C>A" "." "p.L236I" "r.(?)" "" "" "" "" "" "-" "0000004143" "00001350" "55" "0" "0" "0" "0" "c.712T>C" "." "p.S238P" "r.(?)" "" "" "" "" "" "-" "0000004144" "00001350" "55" "0" "0" "0" "0" "c.733T>C" "." "p.F245L" "r.(?)" "" "" "" "" "" "-" "0000004145" "00001350" "55" "0" "0" "0" "0" "c.741A>T" "." "p.P247P" "r.(?)" "" "" "" "" "" "-" "0000004149" "00001350" "55" "0" "0" "0" "0" "c.762C>T" "." "p.D254D" "r.(?)" "" "" "" "" "" "-" "0000004150" "00001350" "55" "0" "0" "0" "0" "c.773T>C" "." "p.L258P" "r.(?)" "" "" "" "" "" "-" "0000004151" "00001350" "55" "0" "0" "0" "0" "c.789C>T" "." "p.N263N" "r.(?)" "" "" "" "" "" "-" "0000004157" "00001350" "55" "0" "0" "0" "0" "c.861A>G" "." "p.K287K" "r.(?)" "" "" "" "" "" "-" "0000004159" "00001350" "55" "0" "0" "0" "0" "c.883T>C" "." "p.L295L" "r.(?)" "" "" "" "" "" "-" "0000004160" "00001350" "77" "0" "0" "0" "0" "c.916A>G" "." "p.I306V" "r.(?)" "" "" "" "" "" "-" "0000004161" "00001350" "55" "0" "0" "0" "0" "c.924T>C" "." "p.H308H" "r.(?)" "" "" "" "" "" "-" "0000004162" "00001350" "55" "0" "0" "0" "0" "c.926T>C" "." "p.M309T" "r.(?)" "" "" "" "" "" "-" "0000004163" "00001350" "77" "0" "0" "0" "0" "c.928T>C" "." "p.S310P" "r.(?)" "" "" "" "" "" "-" "0000004164" "00001350" "77" "0" "0" "0" "0" "c.947T>C" "." "p.M316T" "r.(?)" "" "" "" "" "" "-" "0000004165" "00001350" "77" "0" "0" "0" "0" "c.953G>C" "." "p.R318P" "r.(?)" "" "" "" "" "" "-" "0000004166" "00001350" "77" "0" "0" "0" "0" "c.977G>A" "." "p.W326*" "r.(?)" "" "" "" "" "" "-" "0000004167" "00001350" "55" "0" "0" "0" "0" "c.1012A>G" "." "p.I338V" "r.(?)" "" "" "" "" "" "-" "0000004168" "00001350" "77" "0" "0" "0" "0" "c.1015G>X" "." "p.G339" "r.(?)" "" "" "" "" "" "-" "0000004169" "00001350" "77" "0" "0" "0" "0" "c.1016G>A" "." "p.G339E" "r.(?)" "" "" "" "" "" "-" "0000004170" "00001350" "77" "0" "0" "0" "0" "c.1027G>A" "." "p.V343M" "r.(?)" "" "" "" "" "" "-" "0000004171" "00001350" "55" "0" "0" "0" "0" "c.1038T>C" "." "p.P346P" "r.(?)" "" "" "" "" "" "-" "0000004172" "00001350" "77" "0" "0" "0" "0" "c.1054C>T" "." "p.Q352*" "r.(?)" "" "" "" "" "" "-" "0000004174" "00001350" "55" "0" "0" "0" "0" "c.1078A>G" "." "p.T360A" "r.(?)" "" "" "" "" "" "-" "0000004175" "00001350" "55" "0" "0" "0" "0" "c.1087C>T" "." "p.L363L" "r.(?)" "" "" "" "" "" "-" "0000004176" "00001350" "55" "0" "0" "0" "0" "c.1103C>T" "." "p.T368I" "r.(?)" "" "" "" "" "" "-" "0000004177" "00001350" "55" "0" "0" "0" "0" "c.1105A>G" "." "p.I369V" "r.(?)" "" "" "" "" "" "-" "0000004178" "00001350" "55" "0" "0" "0" "0" "c.1114A>G" "." "p.I372V" "r.(?)" "" "" "" "" "" "-" "0000004179" "00001350" "55" "0" "0" "0" "0" "c.1138G>A" "." "p.A380T" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0