### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = MT-CO3) # 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-CO3" "mitochondrially encoded cytochrome c oxidase III" "M" "M" "UNKNOWN" "NC_012920.1" "" "" "" "" "1" "1" "7422" "4514" "516050" "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}}" "00001338" "MT-CO3" "MT-CO3-201" "000" "MT-CO3-201" "ENST00000362079" "" "ENSP00000354982" "" "" "0" "0" "0" "9207" "9990" "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 = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00012" "220110" "Mitochondrial complex IV deficiency, 220110 (3)" "220110" "" "" "" "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" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "MT-CO3" "00012" "MT-CO3" "00072" ## 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 = 54 "{{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}}" "0000001445" "0" "99" "M" "9379" "9379" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000062" "m.9379G>A" "" "{PMID:12414820:12414820}" "" "rs267606615" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.970" "" "" "" "" "MSCV_0001445" "" "0000001446" "0" "99" "M" "9438" "9438" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000063" "m.9438G>A" "" "{PMID:8240356:8240356};{PMID:7804416:7804416};{PMID:7573056:7573056}" "" "rs267606611" "subst" "0" "; clinVar; Mitomap; Ensembl;" "3.490" "" "" "" "" "MSCV_0001446" "" "0000001448" "0" "77" "M" "9531" "9532" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "" "" "chrM_000065" "m.9531_9532insC" "" "{PMID:11063732:11063732}" "" "rs267606614" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0001448" "" "0000001449" "0" "99" "M" "9804" "9804" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-07-09 19:10:20" "chrM_000066" "m.9804G>A" "" "{PMID:20301353:20301353};{PMID:8240356:8240356}" "" "rs200613617" "subst" "0" "; clinVar; Mitomap; Ensembl;" "4.330" "" "" "" "" "MSCV_0001449" "" "0000001450" "0" "99" "M" "9952" "9952" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-02-11 10:02:18" "chrM_000067" "m.9952G>A" "" "{PMID:9634511:9634511}" "" "rs267606613" "subst" "0" "; clinVar; Mitomap; Ensembl;" "5.130" "" "" "" "" "MSCV_0001450" "" "0000004982" "0" "55" "M" "9251" "9251" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000982" "m.9251A>G" "" "" "" "rs28495963" "subst" "0" ";" "-9.930" "" "" "" "" "MSCV_0004982" "" "0000004985" "0" "55" "M" "9314" "9314" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-08-15 06:09:50" "chrM_000983" "m.9314C>T" "" "" "" "rs28434399" "subst" "0" ";" "-4.620" "" "" "" "" "MSCV_0004985" "" "0000004986" "0" "55" "M" "9336" "9336" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000984" "m.9336A>G" "" "" "" "rs28474779" "subst" "0" ";" "-9.930" "" "" "" "" "MSCV_0004986" "" "0000004987" "0" "55" "M" "9342" "9342" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-02-05 08:09:58" "chrM_000985" "m.9342G>A" "" "" "" "rs28672157" "subst" "0" ";" "4.150" "" "" "" "" "MSCV_0004987" "" "0000004988" "0" "55" "M" "9347" "9347" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-10-17 21:02:56" "chrM_000986" "m.9347A>G" "" "" "" "rs2853824" "subst" "0" ";" "-9.930" "" "" "" "" "MSCV_0004988" "" "0000004989" "0" "55" "M" "9377" "9377" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-02-05 06:09:47" "chrM_000987" "m.9377A>G" "" "" "" "rs28380140" "subst" "0" ";" "2.090" "" "" "" "" "MSCV_0004989" "" "0000004991" "0" "55" "M" "9389" "9389" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000609" "m.9389A>G" "" "" "" "rs28462217" "subst" "0" ";" "-9.930" "" "" "" "" "MSCV_0004991" "" "0000004994" "0" "55" "M" "9449" "9449" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-08-05 15:19:03" "chrM_000610" "m.9449C>T" "" "" "" "rs28358272" "subst" "0" ";" "-6.630" "" "" "" "" "MSCV_0004994" "" "0000004995" "0" "55" "M" "9477" "9477" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2017-03-04 20:38:12" "chrM_000611" "m.9477G>A" "" "" "" "rs2853825" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0004995" "" "0000004996" "0" "99" "M" "9478" "9478" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000612" "m.9478T>C" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0004996" "" "0000004997" "0" "99" "M" "9479" "9493" "del" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-05-29 05:57:52" "chrM_000613" "m.9479_9493del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0004997" "" "0000005000" "0" "77" "M" "9530" "9531" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-05-04 12:28:59" "chrM_000614" "m.9530_9531insC" "" "" "" "" "ins" "0" "; Ensembl;" "" "" "" "" "" "MSCV_0005000" "" "0000005002" "0" "00" "M" "9537" "9538" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-06 22:27:16" "chrM_000621" "m.9537_9538insCA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0005002" "" "0000005003" "0" "55" "M" "9540" "9540" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000623" "m.9540T>C" "" "" "" "rs2248727" "subst" "0" ";" "-4.510" "" "" "" "" "MSCV_0005003" "" "0000005004" "0" "55" "M" "9543" "9543" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000624" "m.9543G>T" "" "" "" "rs28635722" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005004" "" "0000005005" "0" "77" "M" "9544" "9544" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000625" "m.9544G>A" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0005005" "" "0000005006" "0" "55" "M" "9554" "9554" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000626" "m.9554G>A" "" "" "" "rs28358273" "subst" "0" ";" "2.350" "" "" "" "" "MSCV_0005006" "" "0000005007" "0" "55" "M" "9555" "9555" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000627" "m.9555C>T" "" "" "" "rs28754412" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005007" "" "0000005008" "0" "77" "M" "9559" "9559" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-22 05:35:15" "chrM_000629" "m.9559C>G" "" "" "" "rs2856984" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0005008" "" "0000005009" "0" "77" "M" "9559" "9559" "delins" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-08-09 00:49:18" "chrM_000632" "m.9559delinsDEL" "" "" "" "rs2856984" "delins" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0005009" "" "0000005012" "0" "55" "M" "9566" "9566" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000634" "m.9566C>G" "" "" "" "rs28374957" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005012" "" "0000005022" "0" "55" "M" "9627" "9627" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000637" "m.9627G>A" "" "" "" "rs28449754" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005022" "" "0000005023" "0" "55" "M" "9647" "9647" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-10-30 11:42:03" "chrM_000640" "m.9647T>C" "" "" "" "rs28575684" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005023" "" "0000005024" "0" "77" "M" "9660" "9660" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000642" "m.9660A>C" "" "" "" "" "subst" "0" "; Mitomap;" "2.180" "" "" "" "" "MSCV_0005024" "" "0000005025" "0" "55" "M" "9667" "9667" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000653" "m.9667A>G" "" "" "" "rs41482146" "subst" "0" ";" "2.540" "" "" "" "" "MSCV_0005025" "" "0000005026" "0" "55" "M" "9673" "9673" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000656" "m.9673G>C" "" "" "" "rs28463067" "subst" "0" ";" "4.330" "" "" "" "" "MSCV_0005026" "" "0000005027" "0" "55" "M" "9682" "9682" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000664" "m.9682T>C" "" "" "" "rs199750417" "subst" "0" ";" "2.060" "" "" "" "" "MSCV_0005027" "" "0000005028" "0" "55" "M" "9698" "9698" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-03-14 00:47:14" "chrM_000666" "m.9698T>C" "" "" "" "rs9743" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005028" "" "0000005029" "0" "55" "M" "9716" "9716" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000988" "m.9716T>C" "" "" "" "rs41502750" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005029" "" "0000005030" "0" "77" "M" "9738" "9738" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000989" "m.9738G>T" "" "" "" "" "subst" "0" "; Mitomap;" "1.050" "" "" "" "" "MSCV_0005030" "" "0000005031" "0" "55" "M" "9755" "9755" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000990" "m.9755G>A" "" "" "" "rs2856985" "subst" "0" ";" "0.820" "" "" "" "" "MSCV_0005031" "" "0000005032" "0" "55" "M" "9782" "9782" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000991" "m.9782C>G" "" "" "" "rs28433045" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005032" "" "0000005033" "0" "77" "M" "9789" "9789" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2021-05-23 10:13:32" "chrM_000992" "m.9789T>C" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0005033" "" "0000005037" "0" "55" "M" "9818" "9818" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2015-03-22 05:27:07" "chrM_000993" "m.9818C>T" "" "" "" "rs2854139" "subst" "0" ";" "-1.760" "" "" "" "" "MSCV_0005037" "" "0000005038" "0" "55" "M" "9824" "9824" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001233" "m.9824T>C" "" "" "" "rs28411821" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005038" "" "0000005039" "0" "55" "M" "9833" "9833" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001234" "m.9833T>C" "" "" "" "rs3902407" "subst" "0" ";" "-6.170" "" "" "" "" "MSCV_0005039" "" "0000005040" "0" "55" "M" "9855" "9855" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001235" "m.9855A>G" "" "" "" "rs201552272" "subst" "0" ";" "-1.070" "" "" "" "" "MSCV_0005040" "" "0000005041" "0" "77" "M" "9861" "9861" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001236" "m.9861T>C" "" "" "" "" "subst" "0" "; Mitomap;" "-3.310" "" "" "" "" "MSCV_0005041" "" "0000005043" "0" "55" "M" "9899" "9899" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001237" "m.9899T>C" "" "" "" "rs41345446" "subst" "0" ";" "-2.830" "" "" "" "" "MSCV_0005043" "" "0000005044" "0" "55" "M" "9903" "9903" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_001393" "m.9903T>C" "" "" "" "rs199999390" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005044" "" "0000005045" "0" "55" "M" "9909" "9909" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-01-05 15:07:04" "chrM_000787" "m.9909T>C" "" "" "" "rs28690056" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005045" "" "0000005047" "0" "55" "M" "9911" "9911" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000788" "m.9911C>G" "" "" "" "rs28615236" "subst" "0" ";" "-1.900" "" "" "" "" "MSCV_0005047" "" "0000005048" "0" "55" "M" "9912" "9912" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000789" "m.9912G>A" "" "" "" "rs28580363" "subst" "0" ";" "4.330" "" "" "" "" "MSCV_0005048" "" "0000005049" "0" "55" "M" "9942" "9942" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000790" "m.9942G>A" "" "" "" "rs28715301" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005049" "" "0000005050" "0" "55" "M" "9949" "9949" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2016-01-03 12:06:53" "chrM_000791" "m.9949T>G" "" "" "" "rs28453242" "subst" "0" ";" "5.130" "" "" "" "" "MSCV_0005050" "" "0000005051" "0" "55" "M" "9950" "9950" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2020-08-08 15:08:43" "chrM_000792" "m.9950T>C" "" "" "" "rs3134801" "subst" "0" ";" "-10.300" "" "" "" "" "MSCV_0005051" "" "0000005053" "0" "77" "M" "9957" "9957" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000793" "m.9957T>C" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0005053" "" "0000005054" "0" "55" "M" "9966" "9966" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "" "" "chrM_000794" "m.9966G>A" "" "" "" "rs200809063" "subst" "0" ";" "1.690" "" "" "" "" "MSCV_0005054" "" "0000005055" "0" "77" "M" "9972" "9972" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 12:35:10" "00000" "2023-04-25 03:58:15" "chrM_000795" "m.9972A>C" "" "" "" "" "subst" "0" "; Mitomap;" "5.130" "" "" "" "" "MSCV_0005055" "" ## 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 = 54 "{{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}}" "0000001445" "00001338" "99" "0" "0" "0" "0" "c.173G>A" "." "p.W58*" "r.(?)" "" "" "" "" "" "-" "0000001446" "00001338" "99" "0" "0" "0" "0" "c.232G>A" "." "p.G78S" "r.(?)" "" "" "" "" "" "-" "0000001448" "00001338" "77" "0" "0" "0" "0" "c.325_326insC" "." "p.T109NA" "r.(?)" "" "" "" "" "" "-" "0000001449" "00001338" "99" "0" "0" "0" "0" "c.598G>A" "." "p.A200T" "r.(?)" "" "" "" "" "" "-" "0000001450" "00001338" "99" "0" "0" "0" "0" "c.746G>A" "." "p.W249*" "r.(?)" "" "" "" "" "" "-" "0000004982" "00001338" "55" "0" "0" "0" "0" "c.45A>G" "." "p.P15P" "r.(?)" "" "" "" "" "" "-" "0000004985" "00001338" "55" "0" "0" "0" "0" "c.108C>T" "." "p.H36H" "r.(?)" "" "" "" "" "" "-" "0000004986" "00001338" "55" "0" "0" "0" "0" "c.130A>G" "." "p.M44V" "r.(?)" "" "" "" "" "" "-" "0000004987" "00001338" "55" "0" "0" "0" "0" "c.136G>A" "." "p.G46S" "r.(?)" "" "" "" "" "" "-" "0000004988" "00001338" "55" "0" "0" "0" "0" "c.141A>G" "." "p.L47L" "r.(?)" "" "" "" "" "" "-" "0000004989" "00001338" "55" "0" "0" "0" "0" "c.171A>G" "." "p.W57W" "r.(?)" "" "" "" "" "" "-" "0000004991" "00001338" "55" "0" "0" "0" "0" "c.183A>G" "." "p.V61V" "r.(?)" "" "" "" "" "" "-" "0000004994" "00001338" "55" "0" "0" "0" "0" "c.243C>T" "." "p.T81T" "r.(?)" "" "" "" "" "" "-" "0000004995" "00001338" "55" "0" "0" "0" "0" "c.271G>A" "." "p.V91I" "r.(?)" "" "" "" "" "" "-" "0000004996" "00001338" "77" "0" "0" "0" "0" "c.272T>C" "." "p.V91A" "r.(?)" "" "" "" "" "" "-" "0000004997" "00001338" "00" "0" "0" "0" "0" "c.274_287del" "." "p.F92NA" "r.(?)" "" "" "" "" "" "-" "0000005000" "00001338" "77" "0" "0" "0" "0" "c.325_326insC" "." "p.T109NA" "r.(?)" "" "" "" "" "" "-" "0000005002" "00001338" "00" "0" "0" "0" "0" "c.331_332insCA" "." "p.Q111NA" "r.(?)" "" "" "" "" "" "-" "0000005003" "00001338" "55" "0" "0" "0" "0" "c.334T>C" "." "p.L112L" "r.(?)" "" "" "" "" "" "-" "0000005004" "00001338" "55" "0" "0" "0" "0" "c.337G>T" "." "p.G113W" "r.(?)" "" "" "" "" "" "-" "0000005005" "00001338" "77" "0" "0" "0" "0" "c.338G>A" "." "p.G113E" "r.(?)" "" "" "" "" "" "-" "0000005006" "00001338" "55" "0" "0" "0" "0" "c.348G>A" "." "p.W116W" "r.(?)" "" "" "" "" "" "-" "0000005007" "00001338" "55" "0" "0" "0" "0" "c.349C>T" "." "p.P117S" "r.(?)" "" "" "" "" "" "-" "0000005008" "00001338" "77" "0" "0" "0" "0" "c.353C>G" "." "p.P118R" "r.(?)" "" "" "" "" "" "-" "0000005009" "00001338" "77" "0" "0" "0" "0" "c.353C>G" "." "p.P118R" "r.(?)" "" "" "" "" "" "-" "0000005012" "00001338" "55" "0" "0" "0" "0" "c.360C>G" "." "p.G120G" "r.(?)" "" "" "" "" "" "-" "0000005022" "00001338" "55" "0" "0" "0" "0" "c.421G>A" "." "p.G141*" "r.(?)" "" "" "" "" "" "-" "0000005023" "00001338" "55" "0" "0" "0" "0" "c.441T>C" "." "p.A147A" "r.(?)" "" "" "" "" "" "-" "0000005024" "00001338" "77" "0" "0" "0" "0" "c.454A>C" "." "p.M152L" "r.(?)" "" "" "" "" "" "-" "0000005025" "00001338" "55" "0" "0" "0" "0" "c.461A>G" "." "p.N154S" "r.(?)" "" "" "" "" "" "-" "0000005026" "00001338" "55" "0" "0" "0" "0" "c.467G>C" "." "p.R156P" "r.(?)" "" "" "" "" "" "-" "0000005027" "00001338" "55" "0" "0" "0" "0" "c.476T>C" "." "p.M159T" "r.(?)" "" "" "" "" "" "-" "0000005028" "00001338" "55" "0" "0" "0" "0" "c.492T>C" "." "p.L164L" "r.(?)" "" "" "" "" "" "-" "0000005029" "00001338" "55" "0" "0" "0" "0" "c.510T>C" "." "p.G170G" "r.(?)" "" "" "" "" "" "-" "0000005030" "00001338" "77" "0" "0" "0" "0" "c.532G>T" "." "p.A178S" "r.(?)" "" "" "" "" "" "-" "0000005031" "00001338" "55" "0" "0" "0" "0" "c.549G>A" "." "p.E183E" "r.(?)" "" "" "" "" "" "-" "0000005032" "00001338" "55" "0" "0" "0" "0" "c.576C>G" "." "p.I192M" "r.(?)" "" "" "" "" "" "-" "0000005033" "00001338" "77" "0" "0" "0" "0" "c.583T>C" "." "p.S195P" "r.(?)" "" "" "" "" "" "-" "0000005037" "00001338" "55" "0" "0" "0" "0" "c.612C>T" "." "p.H204H" "r.(?)" "" "" "" "" "" "-" "0000005038" "00001338" "55" "0" "0" "0" "0" "c.618T>C" "." "p.L206L" "r.(?)" "" "" "" "" "" "-" "0000005039" "00001338" "55" "0" "0" "0" "0" "c.627T>C" "." "p.I209I" "r.(?)" "" "" "" "" "" "-" "0000005040" "00001338" "55" "0" "0" "0" "0" "c.649A>G" "." "p.I217V" "r.(?)" "" "" "" "" "" "-" "0000005041" "00001338" "77" "0" "0" "0" "0" "c.655T>C" "." "p.F219L" "r.(?)" "" "" "" "" "" "-" "0000005043" "00001338" "55" "0" "0" "0" "0" "c.693T>C" "." "p.H231H" "r.(?)" "" "" "" "" "" "-" "0000005044" "00001338" "55" "0" "0" "0" "0" "c.697T>C" "." "p.F233L" "r.(?)" "" "" "" "" "" "-" "0000005045" "00001338" "55" "0" "0" "0" "0" "c.703T>C" "." "p.F235L" "r.(?)" "" "" "" "" "" "-" "0000005047" "00001338" "55" "0" "0" "0" "0" "c.705C>G" "." "p.F235L" "r.(?)" "" "" "" "" "" "-" "0000005048" "00001338" "55" "0" "0" "0" "0" "c.706G>A" "." "p.E236K" "r.(?)" "" "" "" "" "" "-" "0000005049" "00001338" "55" "0" "0" "0" "0" "c.736G>A" "." "p.D246N" "r.(?)" "" "" "" "" "" "-" "0000005050" "00001338" "55" "0" "0" "0" "0" "c.743T>G" "." "p.V248G" "r.(?)" "" "" "" "" "" "-" "0000005051" "00001338" "55" "0" "0" "0" "0" "c.744T>C" "." "p.V248V" "r.(?)" "" "" "" "" "" "-" "0000005053" "00001338" "77" "0" "0" "0" "0" "c.751T>C" "." "p.F251L" "r.(?)" "" "" "" "" "" "-" "0000005054" "00001338" "55" "0" "0" "0" "0" "c.760G>A" "." "p.V254I" "r.(?)" "" "" "" "" "" "-" "0000005055" "00001338" "77" "0" "0" "0" "0" "c.766A>C" "." "p.I256L" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0