### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-ND1) # 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-ND1" "mitochondrially encoded NADH dehydrogenase 1" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7455" "4535" "516000" "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}}" "00001321" "MT-ND1" "MT-ND1-201" "000" "MT-ND1-201" "ENST00000361390" "" "ENSP00000354687" "" "" "0" "0" "0" "3307" "4262" "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 = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "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" "" "00159" "500008" "DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL " "500008" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "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" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 5 "{{geneid}}" "{{diseaseid}}" "MT-ND1" "00011" "MT-ND1" "00072" "MT-ND1" "00149" "MT-ND1" "00159" "MT-ND1" "00163" ## 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 = 87 "{{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}}" "0000001340" "0" "99" "M" "3308" "3308" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-13 20:59:56" "chrM_000092" "m.3308T>C" "" "{PMID:10519336:10519336};{PMID:10521313:10521313};{PMID:13298683:13298683};{PMID:9806551:9806551}" "" "rs28358582" "subst" "0" "; clinvar; ensembl;" "3.080" "" "" "" "" "MSCV_0001340" "" "0000001341" "0" "99" "M" "3308" "3308" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-20 19:51:40" "chrM_000093" "m.3308T>G" "" "{PMID:10519336:10519336};{PMID:10521313:10521313};{PMID:13298683:13298683};{PMID:9806551:9806551}" "" "rs28358582" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.080" "" "" "" "" "MSCV_0001341" "" "0000001342" "0" "99" "M" "3376" "3376" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000094" "m.3376G>A" "" "{PMID:20301353:20301353};{PMID:15657614:15657614}" "" "rs397515612" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.530" "" "" "" "" "MSCV_0001342" "" "0000001343" "0" "99" "M" "3388" "3388" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 16:26:46" "chrM_000095" "m.3388C>A" "" "{PMID:17637808:17637808};{PMID:22241583:22241583}" "" "rs387906730" "subst" "0" "; clinVar; ensembl;" "-9.060" "" "" "" "" "MSCV_0001343" "" "0000001344" "0" "99" "M" "3394" "3394" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:01:17" "chrM_000096" "m.3394T>C" "" "{PMID:1442494:1442494};{PMID:1732158:1732158};{PMID:1444915:1444915}" "" "rs41460449" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.560" "" "" "" "" "MSCV_0001344" "" "0000001345" "0" "99" "M" "3397" "3397" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-28 08:44:26" "chrM_000097" "m.3397A>G" "" "{PMID:7624338:7624338}" "" "rs199476120" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001345" "" "0000001346" "0" "99" "M" "3460" "3460" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000098" "m.3460G>A" "" "{PMID:12205655:12205655};{PMID:1734726:1734726};{PMID:17620555:17620555};{PMID:8496715:8496715};{PMID:11854175:11854175};{PMID:1444915:1444915};{PMID:1550131:1550131};{PMID:1732158:1732158};{PMID:1928099:1928099};{PMID:1959619:1959619};{PMID:16738010:1673" "" "rs199476118" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.830" "" "" "" "" "MSCV_0001346" "" "0000001347" "0" "99" "M" "3635" "3635" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000099" "m.3635G>A" "" "{PMID:20301353:20301353}" "" "rs397515507" "subst" "0" "; clinVar; Mitomap; ensembl;" "4.530" "" "" "" "" "MSCV_0001347" "" "0000001348" "0" "99" "M" "3697" "3697" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:44" "chrM_000100" "m.3697G>A" "" "{PMID:17562939:17562939};{PMID:15466014:15466014};{PMID:20301353:20301353}" "" "rs199476122" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001348" "" "0000001349" "0" "99" "M" "3700" "3700" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-03-05 13:54:43" "chrM_000240" "m.3700G>A" "" "{PMID:20301353:20301353}" "" "rs397515508" "subst" "0" "; clinVar; Mitomap; ensembl;" "3.690" "" "" "" "" "MSCV_0001349" "" "0000001350" "0" "99" "M" "3733" "3733" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:44" "chrM_000203" "m.3733G>A" "" "{PMID:20301353:20301353};{PMID:15505787:15505787}" "" "rs199476125" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001350" "" "0000001351" "0" "99" "M" "3796" "3796" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:44" "chrM_000204" "m.3796A>G" "" "{PMID:11938495:11938495};{PMID:12756609:12756609}" "" "rs28357970" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-6.850" "" "" "" "" "MSCV_0001351" "" "0000001352" "0" "99" "M" "3796" "3796" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:44" "chrM_000205" "m.3796A>T" "" "{PMID:11938495:11938495};{PMID:12756609:12756609}" "" "rs28357970" "subst" "0" "; clinvar; ensembl;" "-6.850" "" "" "" "" "MSCV_0001352" "" "0000001353" "0" "99" "M" "3946" "3946" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-02-16 20:25:52" "chrM_000206" "m.3946G>A" "" "{PMID:15466014:15466014}" "" "rs199476123" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001353" "" "0000001354" "0" "99" "M" "3949" "3949" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:58" "chrM_000207" "m.3949T>C" "" "{PMID:15466014:15466014}" "" "rs199476124" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001354" "" "0000001355" "0" "99" "M" "4025" "4025" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-05-28 19:05:11" "chrM_000208" "m.4025C>T" "" "{PMID:20301353:20301353}" "" "rs397515509" "subst" "0" "; clinVar; ensembl;" "-1.520" "" "" "" "" "MSCV_0001355" "" "0000001356" "0" "99" "M" "4136" "4136" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:58" "chrM_000001" "m.4136A>G" "" "{PMID:1928099:1928099}" "" "rs199476121" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0001356" "" "0000001357" "0" "99" "M" "4160" "4160" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 09:59:58" "chrM_000002" "m.4160T>C" "" "{PMID:1928099:1928099};{PMID:20301353:20301353}" "" "rs199476119" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0000204" "" "0000001358" "0" "99" "M" "4171" "4171" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000003" "m.4171C>A" "" "{PMID:20301353:20301353};{PMID:12112111:12112111}" "" "rs28616230" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-0.508" "" "" "" "" "MSCV_0001358" "" "0000001359" "0" "99" "M" "4171" "4171" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-09 12:06:55" "chrM_000004" "m.4171C>T" "" "{PMID:20301353:20301353};{PMID:12112111:12112111}" "" "rs28616230" "subst" "0" "; clinvar; ensembl;" "-0.508" "" "" "" "" "MSCV_0001359" "" "0000001360" "0" "33" "M" "4216" "4216" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 17:30:33" "chrM_000005" "m.4216T>C" "" "{PMID:7635294:7635294};{PMID:1732158:1732158};{PMID:1900003:1900003};{PMID:20301353:20301353}" "" "rs1599988" "subst" "0" "; clinVar; Mitomap; Ensembl;" "-6.780" "" "" "" "" "MSCV_0001360" "" "0000004440" "0" "77" "M" "3310" "3310" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000671" "m.3310C>T" "" "" "" "" "subst" "0" "; Mitomap;" "-2.380" "" "" "" "" "MSCV_0004440" "" "0000004441" "0" "77" "M" "3316" "3316" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-12-10 22:45:23" "chrM_000672" "m.3316G>A" "" "" "" "rs2853516" "subst" "0" "; Mitomap;" "-1.700" "" "" "" "" "MSCV_0004441" "" "0000004442" "0" "55" "M" "3336" "3336" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 08:54:50" "chrM_000673" "m.3336T>G" "" "" "" "rs28416101" "subst" "0" ";" "-3.990" "" "" "" "" "MSCV_0004442" "" "0000004443" "0" "77" "M" "3337" "3337" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-12 10:32:12" "chrM_000674" "m.3337G>A" "" "" "" "" "subst" "0" "; Mitomap;" "-9.060" "" "" "" "" "MSCV_0004443" "" "0000004444" "0" "55" "M" "3338" "3338" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 08:54:50" "chrM_000956" "m.3338T>C" "" "" "" "rs201969351" "subst" "0" ";" "4.530" "" "" "" "" "MSCV_0004444" "" "0000004445" "0" "77" "M" "3340" "3340" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 08:54:50" "chrM_000957" "m.3340C>T" "" "" "" "" "subst" "0" "; Mitomap;" "2.550" "" "" "" "" "MSCV_0004445" "" "0000004446" "0" "55" "M" "3348" "3348" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000958" "m.3348A>G" "" "" "" "rs41423746" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004446" "" "0000004448" "0" "77" "M" "3380" "3380" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 20:17:00" "chrM_000959" "m.3380G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.720" "" "" "" "" "MSCV_0004448" "" "0000004451" "0" "77" "M" "3395" "3395" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-07 16:44:15" "chrM_000960" "m.3395A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004451" "" "0000004452" "0" "77" "M" "3396" "3396" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000961" "m.3396T>C" "" "" "" "rs374875201" "subst" "0" "; Mitomap;" "-5.200" "" "" "" "" "MSCV_0004452" "" "0000004454" "0" "77" "M" "3398" "3398" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000962" "m.3398T>C" "" "" "" "rs201212638" "subst" "0" "; Mitomap;" "3.560" "" "" "" "" "MSCV_0004454" "" "0000004455" "0" "77" "M" "3399" "3399" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-13 20:59:56" "chrM_000963" "m.3399A>T" "" "" "" "" "subst" "0" "; Mitomap;" "-1.720" "" "" "" "" "MSCV_0004455" "" "0000004456" "0" "77" "M" "3407" "3407" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000964" "m.3407G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.720" "" "" "" "" "MSCV_0004456" "" "0000004458" "0" "77" "M" "3418" "3418" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-08 02:06:07" "chrM_000965" "m.3418A>G" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004458" "" "0000004459" "0" "77" "M" "3421" "3421" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000966" "m.3421G>A" "" "" "" "" "subst" "0" "; Mitomap;" "-9.060" "" "" "" "" "MSCV_0004459" "" "0000004460" "0" "55" "M" "3423" "3423" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000967" "m.3423T>G" "" "" "" "rs2856981" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004460" "" "0000004461" "0" "55" "M" "3434" "3434" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-08-22 23:26:41" "chrM_000968" "m.3434A>G" "" "" "" "rs202123618" "subst" "0" ";" "3.110" "" "" "" "" "MSCV_0004461" "" "0000004462" "0" "55" "M" "3436" "3436" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-08-22 02:32:20" "chrM_000969" "m.3436G>A" "" "" "" "rs28512326" "subst" "0" ";" "4.530" "" "" "" "" "MSCV_0004462" "" "0000004463" "0" "55" "M" "3450" "3450" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000970" "m.3450C>T" "" "" "" "rs28358583" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004463" "" "0000004466" "0" "55" "M" "3480" "3480" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 04:24:50" "chrM_001301" "m.3480A>G" "" "" "" "rs28358584" "subst" "0" ";" "3.480" "" "" "" "" "MSCV_0004466" "" "0000004467" "0" "99" "M" "3481" "3481" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_001302" "m.3481G>A" "" "" "" "rs373170727" "subst" "0" "; Mitomap;" "4.830" "" "" "" "" "MSCV_0004467" "" "0000004468" "0" "77" "M" "3496" "3496" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001303" "m.3496G>T" "" "" "" "" "subst" "0" "; Mitomap;" "-9.660" "" "" "" "" "MSCV_0004468" "" "0000004469" "0" "77" "M" "3497" "3497" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000689" "m.3497C>T" "" "" "" "rs200319905" "subst" "0" "; Mitomap;" "-3.080" "" "" "" "" "MSCV_0004469" "" "0000004470" "0" "55" "M" "3505" "3505" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000690" "m.3505A>G" "" "" "" "rs28358585" "subst" "0" ";" "3.840" "" "" "" "" "MSCV_0004470" "" "0000004471" "0" "55" "M" "3513" "3513" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000691" "m.3513C>T" "" "" "" "rs28369556" "subst" "0" ";" "-9.660" "" "" "" "" "MSCV_0004471" "" "0000004472" "0" "55" "M" "3516" "3516" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-05-02 23:47:50" "chrM_000692" "m.3516C>T" "" "" "" "rs2854132" "subst" "0" ";" "-2.640" "" "" "" "" "MSCV_0004472" "" "0000004473" "0" "55" "M" "3547" "3547" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000693" "m.3547A>G" "" "" "" "rs28358586" "subst" "0" ";" "-1.370" "" "" "" "" "MSCV_0004473" "" "0000004474" "0" "55" "M" "3552" "3552" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-10-20 12:31:40" "chrM_000694" "m.3552T>A" "" "" "" "rs28358587" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004474" "" "0000004475" "0" "55" "M" "3565" "3565" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-06-19 23:03:00" "chrM_000695" "m.3565A>G" "" "" "" "rs2854133" "subst" "0" ";" "-5.210" "" "" "" "" "MSCV_0004475" "" "0000004476" "0" "55" "M" "3571" "3571" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000696" "m.3571C>T" "" "" "" "rs200453691" "subst" "0" ";" "-5.360" "" "" "" "" "MSCV_0004476" "" "0000004478" "0" "55" "M" "3594" "3594" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000697" "m.3594C>T" "" "" "" "rs2854134" "subst" "0" ";" "-8.530" "" "" "" "" "MSCV_0004478" "" "0000004479" "0" "55" "M" "3604" "3604" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000698" "m.3604C>G" "" "" "" "rs28647976" "subst" "0" ";" "-7.130" "" "" "" "" "MSCV_0004479" "" "0000004480" "0" "55" "M" "3607" "3607" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2024-03-24 15:54:16" "chrM_000699" "m.3607G>A" "" "" "" "rs28658110" "subst" "0" ";" "1.690" "" "" "" "" "MSCV_0004480" "" "0000004481" "0" "55" "M" "3613" "3613" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:01:17" "chrM_000700" "m.3613C>G" "" "" "" "rs28531858" "subst" "0" ";" "-2.390" "" "" "" "" "MSCV_0004481" "" "0000004483" "0" "77" "M" "3644" "3644" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000701" "m.3644T>C" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004483" "" "0000004484" "0" "55" "M" "3666" "3666" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-12 10:33:45" "chrM_000702" "m.3666G>A" "" "" "" "rs28357968" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004484" "" "0000004485" "0" "77" "M" "3688" "3688" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-30 21:25:19" "chrM_000703" "m.3688G>A" "" "" "" "" "subst" "0" "; Mitomap;" "3.640" "" "" "" "" "MSCV_0004485" "" "0000004486" "0" "55" "M" "3693" "3693" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000704" "m.3693G>A" "" "" "" "rs28357969" "subst" "0" ";" "-5.660" "" "" "" "" "MSCV_0004486" "" "0000004489" "0" "55" "M" "3720" "3720" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000705" "m.3720A>G" "" "" "" "rs41355750" "subst" "0" ";" "1.700" "" "" "" "" "MSCV_0004489" "" "0000004490" "0" "55" "M" "3732" "3732" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000706" "m.3732T>G" "" "" "" "rs28520658" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004490" "" "0000004492" "0" "99" "M" "3733" "3733" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-05-02 23:42:19" "chrM_000707" "m.3733G>C" "" "{PMID:20301353:20301353};{PMID:15505787:15505787}" "" "rs199476125" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.530" "" "" "" "" "MSCV_0004492" "" "0000004493" "0" "77" "M" "3736" "3736" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:44" "chrM_000708" "m.3736G>A" "" "" "" "rs201513497" "subst" "0" "; Mitomap;" "3.720" "" "" "" "" "MSCV_0004493" "" "0000004494" "0" "55" "M" "3746" "3746" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-22 01:04:16" "chrM_000709" "m.3746C>T" "" "" "" "rs199684756" "subst" "0" ";" "4.530" "" "" "" "" "MSCV_0004494" "" "0000004495" "0" "55" "M" "3754" "3754" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000729" "m.3754C>G" "" "" "" "rs28615151" "subst" "0" ";" "-0.029" "" "" "" "" "MSCV_0004495" "" "0000004498" "0" "55" "M" "3808" "3808" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-06-17 10:34:30" "chrM_000731" "m.3808A>G" "" "" "" "rs2854135" "subst" "0" ";" "4.530" "" "" "" "" "MSCV_0004498" "" "0000004499" "0" "77" "M" "3833" "3833" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000732" "m.3833T>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004499" "" "0000004500" "0" "55" "M" "3843" "3843" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:44" "chrM_000733" "m.3843A>G" "" "" "" "rs28357971" "subst" "0" ";" "-1.520" "" "" "" "" "MSCV_0004500" "" "0000004501" "0" "77" "M" "3866" "3866" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-02-04 07:34:02" "chrM_000734" "m.3866T>C" "" "" "" "rs200479541" "subst" "0" "; Mitomap;" "2.480" "" "" "" "" "MSCV_0004501" "" "0000004502" "0" "99" "M" "3890" "3890" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-01-12 19:49:31" "chrM_000736" "m.3890G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004502" "" "0000004503" "0" "55" "M" "3915" "3915" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000738" "m.3915G>A" "" "" "" "rs41524046" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004503" "" "0000004504" "0" "55" "M" "3918" "3918" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-06 12:38:15" "chrM_000739" "m.3918G>A" "" "" "" "rs28357972" "subst" "0" ";" "1.720" "" "" "" "" "MSCV_0004504" "" "0000004505" "0" "55" "M" "3927" "3927" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-13 20:59:56" "chrM_000741" "m.3927A>G" "" "" "" "rs28647453" "subst" "0" ";" "-2.750" "" "" "" "" "MSCV_0004505" "" "0000004506" "0" "55" "M" "3936" "3936" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000742" "m.3936C>A" "" "" "" "rs28464073" "subst" "0" ";" "-7.930" "" "" "" "" "MSCV_0004506" "" "0000004509" "0" "55" "M" "3955" "3955" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-20 08:42:35" "chrM_000746" "m.3955G>A" "" "" "" "rs28552781" "subst" "0" ";" "4.530" "" "" "" "" "MSCV_0004509" "" "0000004510" "0" "55" "M" "3970" "3970" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000748" "m.3970C>G" "" "" "" "rs9629042" "subst" "0" ";" "-2.720" "" "" "" "" "MSCV_0004510" "" "0000004511" "0" "55" "M" "3972" "3972" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:58" "chrM_000750" "m.3972A>G" "" "" "" "rs28441014" "subst" "0" ";" "-2.020" "" "" "" "" "MSCV_0004511" "" "0000004512" "0" "55" "M" "3992" "3992" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:58" "chrM_000752" "m.3992C>T" "" "" "" "rs41402945" "subst" "0" ";" "0.202" "" "" "" "" "MSCV_0004512" "" "0000004513" "0" "55" "M" "4012" "4012" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:58" "chrM_000758" "m.4012A>G" "" "" "" "rs201610884" "subst" "0" ";" "1.620" "" "" "" "" "MSCV_0004513" "" "0000004514" "0" "55" "M" "4021" "4021" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-18 19:32:44" "chrM_000759" "m.4021A>G" "" "" "" "rs199771084" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004514" "" "0000004516" "0" "55" "M" "4048" "4048" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2017-08-19 19:57:02" "chrM_000760" "m.4048G>A" "" "" "" "rs201629275" "subst" "0" ";" "-9.060" "" "" "" "" "MSCV_0004516" "" "0000004518" "0" "55" "M" "4093" "4093" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2019-04-12 10:31:38" "chrM_000761" "m.4093A>G" "" "" "" "rs200180511" "subst" "0" ";" "-2.220" "" "" "" "" "MSCV_0004518" "" "0000004519" "0" "55" "M" "4123" "4123" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:58" "chrM_000675" "m.4123A>G" "" "" "" "rs200764459" "subst" "0" ";" "-0.531" "" "" "" "" "MSCV_0004519" "" "0000004520" "0" "55" "M" "4129" "4129" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:58" "chrM_000676" "m.4129A>G" "" "" "" "rs201832206" "subst" "0" ";" "2.000" "" "" "" "" "MSCV_0004520" "" "0000004521" "0" "77" "M" "4132" "4132" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 09:59:58" "chrM_000677" "m.4132G>A" "" "" "" "" "subst" "0" "; Mitomap;" "2.500" "" "" "" "" "MSCV_0004521" "" "0000004523" "0" "77" "M" "4142" "4142" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2018-09-08 06:09:32" "chrM_000678" "m.4142G>A" "" "" "" "" "subst" "0" "; Mitomap;" "4.530" "" "" "" "" "MSCV_0004523" "" "0000004530" "0" "77" "M" "4223" "4223" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-24 21:44:32" "chrM_000679" "m.4223C>T" "" "" "" "rs9629043" "subst" "0" "; ensembl;" "3.570" "" "" "" "" "MSCV_0004530" "" ## 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 = 87 "{{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}}" "0000001340" "00001321" "99" "0" "0" "0" "0" "c.2T>C" "." "p.M1T" "r.(?)" "" "" "" "" "" "-" "0000001341" "00001321" "99" "0" "0" "0" "0" "c.2T>G" "." "p.M1*" "r.(?)" "" "" "" "" "" "-" "0000001342" "00001321" "99" "0" "0" "0" "0" "c.70G>A" "." "p.E24K" "r.(?)" "" "" "" "" "" "-" "0000001343" "00001321" "99" "0" "0" "0" "0" "c.82C>A" "." "p.L28M" "r.(?)" "" "" "" "" "" "-" "0000001344" "00001321" "99" "0" "0" "0" "0" "c.88T>C" "." "p.T30H" "r.(?)" "" "" "" "" "" "-" "0000001345" "00001321" "99" "0" "0" "0" "0" "c.91A>G" "." "p.M31V" "r.(?)" "" "" "" "" "" "-" "0000001346" "00001321" "99" "0" "0" "0" "0" "c.154G>A" "." "p.A52T" "r.(?)" "" "" "" "" "" "-" "0000001347" "00001321" "99" "0" "0" "0" "0" "c.329G>A" "." "p.S110N" "r.(?)" "" "" "" "" "" "-" "0000001348" "00001321" "99" "0" "0" "0" "0" "c.391G>A" "." "p.G131S" "r.(?)" "" "" "" "" "" "-" "0000001349" "00001321" "99" "0" "0" "0" "0" "c.394G>A" "." "p.A132T" "r.(?)" "" "" "" "" "" "-" "0000001350" "00001321" "99" "0" "0" "0" "0" "c.427G>A" "." "p.E143K" "r.(?)" "" "" "" "" "" "-" "0000001351" "00001321" "99" "0" "0" "0" "0" "c.490A>G" "." "p.T164A" "r.(?)" "" "" "" "" "" "-" "0000001352" "00001321" "99" "0" "0" "0" "0" "c.490A>T" "." "p.T164S" "r.(?)" "" "" "" "" "" "-" "0000001353" "00001321" "99" "0" "0" "0" "0" "c.640G>A" "." "p.E214K" "r.(?)" "" "" "" "" "" "-" "0000001354" "00001321" "99" "0" "0" "0" "0" "c.643T>C" "." "p.T215H" "r.(?)" "" "" "" "" "" "-" "0000001355" "00001321" "99" "0" "0" "0" "0" "c.719C>T" "." "p.T240M" "r.(?)" "" "" "" "" "" "-" "0000001356" "00001321" "99" "0" "0" "0" "0" "c.830A>G" "." "p.T277C" "r.(?)" "" "" "" "" "" "-" "0000001357" "00001321" "99" "0" "0" "0" "0" "c.854T>C" "." "p.L285P" "r.(?)" "" "" "" "" "" "-" "0000001358" "00001321" "99" "0" "0" "0" "0" "c.865C>A" "." "p.L289M" "r.(?)" "" "" "" "" "" "-" "0000001359" "00001321" "99" "0" "0" "0" "0" "c.865C>T" "." "p.L289L" "r.(?)" "" "" "" "" "" "-" "0000001360" "00001321" "33" "0" "0" "0" "0" "c.910T>C" "." "p.T304H" "r.(?)" "" "" "" "" "" "-" "0000004440" "00001321" "77" "0" "0" "0" "0" "c.4C>T" "." "p.P2S" "r.(?)" "" "" "" "" "" "-" "0000004441" "00001321" "77" "0" "0" "0" "0" "c.10G>A" "." "p.A4T" "r.(?)" "" "" "" "" "" "-" "0000004442" "00001321" "55" "0" "0" "0" "0" "c.30T>G" "." "p.I10M" "r.(?)" "" "" "" "" "" "-" "0000004443" "00001321" "77" "0" "0" "0" "0" "c.31G>A" "." "p.V11M" "r.(?)" "" "" "" "" "" "-" "0000004444" "00001321" "55" "0" "0" "0" "0" "c.32T>C" "." "p.V11A" "r.(?)" "" "" "" "" "" "-" "0000004445" "00001321" "77" "0" "0" "0" "0" "c.34C>T" "." "p.P12S" "r.(?)" "" "" "" "" "" "-" "0000004446" "00001321" "55" "0" "0" "0" "0" "c.42A>G" "." "p.L14L" "r.(?)" "" "" "" "" "" "-" "0000004448" "00001321" "77" "0" "0" "0" "0" "c.74G>A" "." "p.R25Q" "r.(?)" "" "" "" "" "" "-" "0000004451" "00001321" "77" "0" "0" "0" "0" "c.89A>G" "." "p.T30C" "r.(?)" "" "" "" "" "" "-" "0000004452" "00001321" "77" "0" "0" "0" "0" "c.90T>C" "." "p.T30T" "r.(?)" "" "" "" "" "" "-" "0000004454" "00001321" "77" "0" "0" "0" "0" "c.92T>C" "." "p.M31T" "r.(?)" "" "" "" "" "" "-" "0000004455" "00001321" "77" "0" "0" "0" "0" "c.93A>T" "." "p.M31I" "r.(?)" "" "" "" "" "" "-" "0000004456" "00001321" "77" "0" "0" "0" "0" "c.101G>A" "." "p.R34H" "r.(?)" "" "" "" "" "" "-" "0000004458" "00001321" "77" "0" "0" "0" "0" "c.112A>G" "." "p.N38D" "r.(?)" "" "" "" "" "" "-" "0000004459" "00001321" "77" "0" "0" "0" "0" "c.115G>A" "." "p.V39I" "r.(?)" "" "" "" "" "" "-" "0000004460" "00001321" "55" "0" "0" "0" "0" "c.117T>G" "." "p.V39V" "r.(?)" "" "" "" "" "" "-" "0000004461" "00001321" "55" "0" "0" "0" "0" "c.128A>G" "." "p.T43C" "r.(?)" "" "" "" "" "" "-" "0000004462" "00001321" "55" "0" "0" "0" "0" "c.130G>A" "." "p.G44*" "r.(?)" "" "" "" "" "" "-" "0000004463" "00001321" "55" "0" "0" "0" "0" "c.144C>T" "." "p.P48P" "r.(?)" "" "" "" "" "" "-" "0000004466" "00001321" "55" "0" "0" "0" "0" "c.174A>G" "." "p.K58K" "r.(?)" "" "" "" "" "" "-" "0000004467" "00001321" "77" "0" "0" "0" "0" "c.175G>A" "." "p.E59K" "r.(?)" "" "" "" "" "" "-" "0000004468" "00001321" "77" "0" "0" "0" "0" "c.190G>T" "." "p.A64S" "r.(?)" "" "" "" "" "" "-" "0000004469" "00001321" "77" "0" "0" "0" "0" "c.191C>T" "." "p.A64V" "r.(?)" "" "" "" "" "" "-" "0000004470" "00001321" "55" "0" "0" "0" "0" "c.199A>G" "." "p.T67A" "r.(?)" "" "" "" "" "" "-" "0000004471" "00001321" "55" "0" "0" "0" "0" "c.207C>T" "." "p.T69T" "r.(?)" "" "" "" "" "" "-" "0000004472" "00001321" "55" "0" "0" "0" "0" "c.210C>T" "." "p.L70L" "r.(?)" "" "" "" "" "" "-" "0000004473" "00001321" "55" "0" "0" "0" "0" "c.241A>G" "." "p.I81V" "r.(?)" "" "" "" "" "" "-" "0000004474" "00001321" "55" "0" "0" "0" "0" "c.246T>A" "." "p.A82A" "r.(?)" "" "" "" "" "" "-" "0000004475" "00001321" "55" "0" "0" "0" "0" "c.259A>G" "." "p.T87A" "r.(?)" "" "" "" "" "" "-" "0000004476" "00001321" "55" "0" "0" "0" "0" "c.265C>T" "." "p.L89F" "r.(?)" "" "" "" "" "" "-" "0000004478" "00001321" "55" "0" "0" "0" "0" "c.288C>T" "." "p.V96V" "r.(?)" "" "" "" "" "" "-" "0000004479" "00001321" "55" "0" "0" "0" "0" "c.298C>G" "." "p.L100V" "r.(?)" "" "" "" "" "" "-" "0000004480" "00001321" "55" "0" "0" "0" "0" "c.301G>A" "." "p.G101S" "r.(?)" "" "" "" "" "" "-" "0000004481" "00001321" "55" "0" "0" "0" "0" "c.307C>G" "." "p.L103V" "r.(?)" "" "" "" "" "" "-" "0000004483" "00001321" "77" "0" "0" "0" "0" "c.338T>C" "." "p.V113A" "r.(?)" "" "" "" "" "" "-" "0000004484" "00001321" "55" "0" "0" "0" "0" "c.360G>A" "." "p.G120G" "r.(?)" "" "" "" "" "" "-" "0000004485" "00001321" "77" "0" "0" "0" "0" "c.382G>A" "." "p.A128T" "r.(?)" "" "" "" "" "" "-" "0000004486" "00001321" "55" "0" "0" "0" "0" "c.387G>A" "." "p.L129L" "r.(?)" "" "" "" "" "" "-" "0000004489" "00001321" "55" "0" "0" "0" "0" "c.414A>G" "." "p.Q138Q" "r.(?)" "" "" "" "" "" "-" "0000004490" "00001321" "55" "0" "0" "0" "0" "c.426T>G" "." "p.T142*" "r.(?)" "" "" "" "" "" "-" "0000004492" "00001321" "99" "0" "0" "0" "0" "c.427G>C" "." "p.E143Q" "r.(?)" "" "" "" "" "" "-" "0000004493" "00001321" "77" "0" "0" "0" "0" "c.430G>A" "." "p.V144I" "r.(?)" "" "" "" "" "" "-" "0000004494" "00001321" "55" "0" "0" "0" "0" "c.440C>T" "." "p.A147V" "r.(?)" "" "" "" "" "" "-" "0000004495" "00001321" "55" "0" "0" "0" "0" "c.448C>G" "." "p.L150V" "r.(?)" "" "" "" "" "" "-" "0000004498" "00001321" "55" "0" "0" "0" "0" "c.502A>G" "." "p.T168A" "r.(?)" "" "" "" "" "" "-" "0000004499" "00001321" "77" "0" "0" "0" "0" "c.527T>A" "." "p.L176Q" "r.(?)" "" "" "" "" "" "-" "0000004500" "00001321" "55" "0" "0" "0" "0" "c.537A>G" "." "p.W179W" "r.(?)" "" "" "" "" "" "-" "0000004501" "00001321" "77" "0" "0" "0" "0" "c.560T>C" "." "p.I187T" "r.(?)" "" "" "" "" "" "-" "0000004502" "00001321" "77" "0" "0" "0" "0" "c.584G>A" "." "p.R195Q" "r.(?)" "" "" "" "" "" "-" "0000004503" "00001321" "55" "0" "0" "0" "0" "c.609G>A" "." "p.G203G" "r.(?)" "" "" "" "" "" "-" "0000004504" "00001321" "55" "0" "0" "0" "0" "c.612G>A" "." "p.E204E" "r.(?)" "" "" "" "" "" "-" "0000004505" "00001321" "55" "0" "0" "0" "0" "c.621A>G" "." "p.L207L" "r.(?)" "" "" "" "" "" "-" "0000004506" "00001321" "55" "0" "0" "0" "0" "c.630C>A" "." "p.G210G" "r.(?)" "" "" "" "" "" "-" "0000004509" "00001321" "55" "0" "0" "0" "0" "c.649G>A" "." "p.A217T" "r.(?)" "" "" "" "" "" "-" "0000004510" "00001321" "55" "0" "0" "0" "0" "c.664C>G" "." "p.L222V" "r.(?)" "" "" "" "" "" "-" "0000004511" "00001321" "55" "0" "0" "0" "0" "c.666A>G" "." "p.L222L" "r.(?)" "" "" "" "" "" "-" "0000004512" "00001321" "55" "0" "0" "0" "0" "c.686C>T" "." "p.T229M" "r.(?)" "" "" "" "" "" "-" "0000004513" "00001321" "55" "0" "0" "0" "0" "c.706A>G" "." "p.T236A" "r.(?)" "" "" "" "" "" "-" "0000004514" "00001321" "55" "0" "0" "0" "0" "c.715A>G" "." "p.T239A" "r.(?)" "" "" "" "" "" "-" "0000004516" "00001321" "55" "0" "0" "0" "0" "c.742G>A" "." "p.D248N" "r.(?)" "" "" "" "" "" "-" "0000004518" "00001321" "55" "0" "0" "0" "0" "c.787A>G" "." "p.T263A" "r.(?)" "" "" "" "" "" "-" "0000004519" "00001321" "55" "0" "0" "0" "0" "c.817A>G" "." "p.I273V" "r.(?)" "" "" "" "" "" "-" "0000004520" "00001321" "55" "0" "0" "0" "0" "c.823A>G" "." "p.T275A" "r.(?)" "" "" "" "" "" "-" "0000004521" "00001321" "77" "0" "0" "0" "0" "c.826G>A" "." "p.A276T" "r.(?)" "" "" "" "" "" "-" "0000004523" "00001321" "77" "0" "0" "0" "0" "c.836G>A" "." "p.R279Q" "r.(?)" "" "" "" "" "" "-" "0000004530" "00001321" "77" "0" "0" "0" "0" "c.917C>T" "." "p.S306F" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0