### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = FOXRED1) # 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}}" "FOXRED1" "FAD-dependent oxidoreductase domain containing 1" "11" "q24.2" "unknown" "NC_000011.9" "UD_132119089238" "" "" "" "1" "1" "26927" "55572" "613622" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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 = 3 "{{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}}" "00000134" "FOXRED1" "transcript variant 1" "001" "NM_017547.3" "" "NP_060017.1" "" "" "" "-167" "1904" "1461" "126138935" "126148027" "00001" "2013-11-07 13:48:59" "" "" "" "11" "00000135" "FOXRED1" "transcript variant 3" "002" "NR_037647.1" "" "" "" "" "" "1" "1850" "1850" "126138935" "126148027" "00001" "2013-11-07 13:48:59" "" "" "" "11" "00000136" "FOXRED1" "transcript variant 2" "003" "NR_037648.1" "" "" "" "" "" "1" "2090" "2090" "126139040" "126148027" "00001" "2013-11-07 13:48:59" "" "" "" "11" ## 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}}" "00011" "252010" "Mitochondrial complex I deficiency, 252010 (3)" "252010" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00595" "618241" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19; MC1DN19" "618241" "" "" "" "00000" "2019-03-01 12:40:01" "" "" "Added by batch from OMIM 2019-01-20" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "FOXRED1" "00011" "FOXRED1" "00595" ## 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 = 44 "{{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}}" "0000000462" "0" "99" "11" "126145284" "126145284" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-14 08:50:33" "FOXRED1_000001" "g.126145284C>T" "" "{PMID:20818383:20818383}" "" "rs267606829" "subst" "0" "; clinVar; Ensembl;" "2.930" "" "" "" "" "MSCV_0000462" "" "0000000463" "0" "99" "11" "126146371" "126146371" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-14 09:01:30" "FOXRED1_000002" "g.126146371C>T" "" "{PMID:20858599:20858599}" "" "rs387907087" "subst" "0" "; clinVar; ensembl;" "5.630" "" "" "" "" "MSCV_0000463" "" "0000000464" "0" "99" "11" "126147412" "126147412" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-14 09:05:07" "FOXRED1_000003" "g.126147412A>G" "" "{PMID:20818383:20818383}" "" "rs267606830" "subst" "0" "; clinVar; Ensembl;" "5.370" "" "" "" "" "MSCV_0000464" "" "0000016875" "0" "55" "11" "126138939" "126138939" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:50:50" "FOXRED1_000037" "g.126138939G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016875" "" "0000016876" "0" "77" "11" "126139071" "126139071" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:26:59" "FOXRED1_000035" "g.126139071A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016876" "" "0000016877" "0" "11" "11" "126139100" "126139100" "subst" "35" "0.694876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:27:02" "FOXRED1_000036" "g.126139100T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016877" "" "0000016878" "0" "77" "11" "126139110" "126139110" "subst" "35" "0.00030774" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:20" "FOXRED1_000028" "g.126139110G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016878" "" "0000016879" "0" "77" "11" "126139111" "126139111" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:23" "FOXRED1_000029" "g.126139111A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016879" "" "0000016880" "0" "55" "11" "126139136" "126139136" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:26" "FOXRED1_000030" "g.126139136G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016880" "" "0000016881" "0" "77" "11" "126141370" "126141370" "subst" "35" "0.00369288" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:29" "FOXRED1_000031" "g.126141370A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016881" "" "0000016882" "0" "55" "11" "126141438" "126141438" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:32" "FOXRED1_000032" "g.126141438G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016882" "" "0000016883" "0" "55" "11" "126141542" "126141542" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:18:35" "FOXRED1_000033" "g.126141542G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016883" "" "0000016884" "0" "55" "11" "126141551" "126141551" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:38:27" "FOXRED1_000034" "g.126141551C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016884" "" "0000016885" "0" "99" "11" "126142963" "126142963" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:26" "FOXRED1_000020" "g.126142963C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016885" "" "0000016886" "0" "77" "11" "126143246" "126143246" "subst" "35" "0.0079243" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:29" "FOXRED1_000021" "g.126143246G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016886" "" "0000016887" "0" "77" "11" "126143248" "126143248" "subst" "35" "0.00161563" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:32" "FOXRED1_000022" "g.126143248C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016887" "" "0000016888" "0" "55" "11" "126144865" "126144865" "subst" "35" "0.0000769349" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:35" "FOXRED1_000023" "g.126144865C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016888" "" "0000016889" "0" "00" "11" "126144895" "126144896" "ins" "35" "0.00015977" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:38" "FOXRED1_000024" "g.126144895_126144896insGAGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016889" "" "0000016890" "0" "77" "11" "126145222" "126145222" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:40" "FOXRED1_000025" "g.126145222G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016890" "" "0000016891" "0" "55" "11" "126145248" "126145248" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:43" "FOXRED1_000026" "g.126145248C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016891" "" "0000016892" "0" "55" "11" "126145252" "126145252" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:17:46" "FOXRED1_000027" "g.126145252G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016892" "" "0000016893" "0" "99" "11" "126145284" "126145284" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-07-29 07:43:14" "FOXRED1_000001" "g.126145284C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000462" "" "0000016894" "0" "55" "11" "126145976" "126145976" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:19" "FOXRED1_000004" "g.126145976A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016894" "" "0000016895" "0" "55" "11" "126146000" "126146000" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:23" "FOXRED1_000005" "g.126146000T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016895" "" "0000016896" "0" "55" "11" "126146030" "126146030" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:27" "FOXRED1_000006" "g.126146030C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016896" "" "0000016897" "0" "55" "11" "126146064" "126146064" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:30" "FOXRED1_000007" "g.126146064G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016897" "" "0000016898" "0" "55" "11" "126146095" "126146095" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:34" "FOXRED1_000008" "g.126146095C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016898" "" "0000016899" "0" "77" "11" "126146337" "126146337" "subst" "35" "0.00323226" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:36" "FOXRED1_000009" "g.126146337G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016899" "" "0000016900" "0" "99" "11" "126146371" "126146371" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:39" "FOXRED1_000002" "g.126146371C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000463" "" "0000016901" "0" "55" "11" "126147002" "126147002" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:46" "FOXRED1_000010" "g.126147002C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016901" "" "0000016902" "0" "77" "11" "126147003" "126147003" "subst" "35" "0.0103093" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:45:56" "FOXRED1_000011" "g.126147003A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016902" "" "0000016903" "0" "55" "11" "126147047" "126147047" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:22" "FOXRED1_000012" "g.126147047G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016903" "" "0000016904" "0" "99" "11" "126147412" "126147412" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:36" "FOXRED1_000003" "g.126147412A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000464" "" "0000016905" "0" "55" "11" "126147669" "126147669" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:44" "FOXRED1_000013" "g.126147669T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016905" "" "0000016906" "0" "33" "11" "126147697" "126147697" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 13:38:28" "FOXRED1_000014" "g.126147697G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016906" "" "0000016907" "0" "33" "11" "126147713" "126147713" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:02" "FOXRED1_000015" "g.126147713C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016907" "" "0000016908" "0" "55" "11" "126147743" "126147743" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:11" "FOXRED1_000016" "g.126147743C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016908" "" "0000016909" "0" "55" "11" "126147774" "126147774" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:34" "FOXRED1_000017" "g.126147774T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016909" "" "0000016910" "0" "55" "11" "126147976" "126147976" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:43" "FOXRED1_000018" "g.126147976G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016910" "" "0000016911" "0" "55" "11" "126148016" "126148016" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:52" "FOXRED1_000019" "g.126148016T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016911" "" "0000024559" "0" "00" "11" "126143230" "126143230" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:38:44" "FOXRED1_000041" "g.126143230G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024560" "0" "00" "11" "126144853" "126144853" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:09:16" "FOXRED1_000038" "g.126144853C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024561" "0" "00" "11" "126145709" "126145709" "subst" "35" "0.00030774" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:09:27" "FOXRED1_000039" "g.126145709C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024562" "0" "00" "11" "126147035" "126147035" "subst" "35" "0.000923219" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 00:09:45" "FOXRED1_000040" "g.126147035T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 132 "{{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}}" "0000000462" "00000134" "99" "694" "0" "694" "0" "c.694C>T" "6/11" "p.(Gln232*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000462" "00000135" "99" "640" "0" "640" "0" "n.640C>T" "5/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000462" "00000136" "99" "880" "0" "880" "0" "n.880C>T" "6/11" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000463" "00000134" "99" "1054" "0" "1054" "0" "c.1054C>T" "9/11" "p.(Arg352Trp)" "r.(?)" "probably_damaging(0.993)" "" "missense_variant" "" "" "deleterious(0)" "0000000463" "00000135" "99" "1000" "0" "1000" "0" "n.1000C>T" "8/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000463" "00000136" "99" "1240" "0" "1240" "0" "n.1240C>T" "9/11" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000464" "00000134" "99" "1289" "0" "1289" "0" "c.1289A>G" "11/11" "p.(Asn430Ser)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000464" "00000135" "99" "1235" "0" "1235" "0" "n.1235A>G" "10/10" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000464" "00000136" "99" "1475" "0" "1475" "0" "n.1475A>G" "11/11" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000016875" "00000134" "00" "-163" "0" "-163" "0" "c.-163G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016875" "00000135" "00" "5" "0" "5" "0" "n.5G>C" "" "" "" "" "" "" "" "" "-" "0000016875" "00000136" "00" "1" "-101" "1" "-101" "n.-101G>C" "" "" "" "" "" "" "" "" "-" "0000016876" "00000134" "00" "-31" "0" "-31" "0" "c.-31A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016876" "00000135" "00" "137" "0" "137" "0" "n.137A>G" "" "" "" "" "" "" "" "" "-" "0000016876" "00000136" "00" "32" "0" "32" "0" "n.32A>G" "" "" "" "" "" "" "" "" "-" "0000016877" "00000134" "00" "-2" "0" "-2" "0" "c.-2T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016877" "00000135" "00" "166" "0" "166" "0" "n.166T>C" "" "" "" "" "" "" "" "" "-" "0000016877" "00000136" "00" "61" "0" "61" "0" "n.61T>C" "" "" "" "" "" "" "" "" "-" "0000016878" "00000134" "00" "9" "0" "9" "0" "c.9G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016878" "00000135" "00" "176" "0" "176" "0" "n.176G>A" "" "" "" "" "" "" "" "" "-" "0000016878" "00000136" "00" "71" "0" "71" "0" "n.71G>A" "" "" "" "" "" "" "" "" "-" "0000016879" "00000134" "00" "10" "0" "10" "0" "c.10A>G" "" "p.(Arg4Gly)" "r.(?)" "" "" "" "" "" "-" "0000016879" "00000135" "00" "177" "0" "177" "0" "n.177A>G" "" "" "" "" "" "" "" "" "-" "0000016879" "00000136" "00" "72" "0" "72" "0" "n.72A>G" "" "" "" "" "" "" "" "" "-" "0000016880" "00000134" "00" "35" "0" "35" "0" "c.35G>C" "" "p.(Arg12Pro)" "r.(?)" "" "" "" "" "" "-" "0000016880" "00000135" "00" "202" "0" "202" "0" "n.202G>C" "" "" "" "" "" "" "" "" "-" "0000016880" "00000136" "00" "97" "0" "97" "0" "n.97G>C" "" "" "" "" "" "" "" "" "-" "0000016881" "00000134" "00" "124" "0" "124" "0" "c.124A>C" "" "p.(Lys42Gln)" "r.(?)" "" "" "" "" "" "-" "0000016881" "00000135" "00" "253" "-1494" "253" "-1494" "n.253-1494A>C" "" "" "" "" "" "" "" "" "-" "0000016881" "00000136" "00" "310" "0" "310" "0" "n.310A>C" "" "" "" "" "" "" "" "" "-" "0000016882" "00000134" "00" "192" "0" "192" "0" "c.192G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016882" "00000135" "00" "253" "-1426" "253" "-1426" "n.253-1426G>A" "" "" "" "" "" "" "" "" "-" "0000016882" "00000136" "00" "378" "0" "378" "0" "n.378G>A" "" "" "" "" "" "" "" "" "-" "0000016883" "00000134" "00" "296" "0" "296" "0" "c.296G>A" "" "p.(Arg99Gln)" "r.(?)" "" "" "" "" "" "-" "0000016883" "00000135" "00" "253" "-1322" "253" "-1322" "n.253-1322G>A" "" "" "" "" "" "" "" "" "-" "0000016883" "00000136" "00" "482" "0" "482" "0" "n.482G>A" "" "" "" "" "" "" "" "" "-" "0000016884" "00000134" "00" "305" "0" "305" "0" "c.305C>T" "" "p.(Thr102Met)" "r.(?)" "" "" "" "" "" "-" "0000016884" "00000135" "00" "253" "-1313" "253" "-1313" "n.253-1313C>T" "" "" "" "" "" "" "" "" "-" "0000016884" "00000136" "00" "491" "0" "491" "0" "n.491C>T" "" "" "" "" "" "" "" "" "-" "0000016885" "00000134" "00" "406" "0" "406" "0" "c.406C>T" "" "p.(Arg136Trp)" "r.(?)" "" "" "" "" "" "-" "0000016885" "00000135" "00" "352" "0" "352" "0" "n.352C>T" "" "" "" "" "" "" "" "" "-" "0000016885" "00000136" "00" "592" "0" "592" "0" "n.592C>T" "" "" "" "" "" "" "" "" "-" "0000016886" "00000134" "00" "433" "0" "433" "0" "c.433G>A" "" "p.(Val145Ile)" "r.(?)" "" "" "" "" "" "-" "0000016886" "00000135" "00" "379" "0" "379" "0" "n.379G>A" "" "" "" "" "" "" "" "" "-" "0000016886" "00000136" "00" "619" "0" "619" "0" "n.619G>A" "" "" "" "" "" "" "" "" "-" "0000016887" "00000134" "00" "435" "0" "435" "0" "c.435C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016887" "00000135" "00" "381" "0" "381" "0" "n.381C>T" "" "" "" "" "" "" "" "" "-" "0000016887" "00000136" "00" "621" "0" "621" "0" "n.621C>T" "" "" "" "" "" "" "" "" "-" "0000016888" "00000134" "00" "580" "0" "580" "0" "c.580C>T" "" "p.(Arg194Trp)" "r.(?)" "" "" "" "" "" "-" "0000016888" "00000135" "00" "526" "0" "526" "0" "n.526C>T" "" "" "" "" "" "" "" "" "-" "0000016888" "00000136" "00" "766" "0" "766" "0" "n.766C>T" "" "" "" "" "" "" "" "" "-" "0000016889" "00000134" "00" "610" "0" "611" "0" "c.610_611insGAGT" "" "p.(Ala206Serfs*15)" "r.(?)" "" "" "" "" "" "-" "0000016889" "00000135" "00" "556" "0" "557" "0" "n.556_557insGAGT" "" "" "" "" "" "" "" "" "-" "0000016889" "00000136" "00" "796" "0" "797" "0" "n.796_797insGAGT" "" "" "" "" "" "" "" "" "-" "0000016890" "00000134" "00" "632" "0" "632" "0" "c.632G>C" "" "p.(Gly211Ala)" "r.(?)" "" "" "" "" "" "-" "0000016890" "00000135" "00" "578" "0" "578" "0" "n.578G>C" "" "" "" "" "" "" "" "" "-" "0000016890" "00000136" "00" "818" "0" "818" "0" "n.818G>C" "" "" "" "" "" "" "" "" "-" "0000016891" "00000134" "00" "658" "0" "658" "0" "c.658C>T" "" "p.(Pro220Ser)" "r.(?)" "" "" "" "" "" "-" "0000016891" "00000135" "00" "604" "0" "604" "0" "n.604C>T" "" "" "" "" "" "" "" "" "-" "0000016891" "00000136" "00" "844" "0" "844" "0" "n.844C>T" "" "" "" "" "" "" "" "" "-" "0000016892" "00000134" "00" "662" "0" "662" "0" "c.662G>T" "" "p.(Trp221Leu)" "r.(?)" "" "" "" "" "" "-" "0000016892" "00000135" "00" "608" "0" "608" "0" "n.608G>T" "" "" "" "" "" "" "" "" "-" "0000016892" "00000136" "00" "848" "0" "848" "0" "n.848G>T" "" "" "" "" "" "" "" "" "-" "0000016893" "00000134" "00" "694" "0" "694" "0" "c.694C>T" "" "p.(Gln232*)" "r.(?)" "" "" "" "" "" "-" "0000016893" "00000135" "00" "640" "0" "640" "0" "n.640C>T" "" "" "" "" "" "" "" "" "-" "0000016893" "00000136" "00" "880" "0" "880" "0" "n.880C>T" "" "" "" "" "" "" "" "" "-" "0000016894" "00000134" "00" "833" "0" "833" "0" "c.833A>G" "" "p.(Glu278Gly)" "r.(?)" "" "" "" "" "" "-" "0000016894" "00000135" "00" "779" "0" "779" "0" "n.779A>G" "" "" "" "" "" "" "" "" "-" "0000016894" "00000136" "00" "1019" "0" "1019" "0" "n.1019A>G" "" "" "" "" "" "" "" "" "-" "0000016895" "00000134" "00" "857" "0" "857" "0" "c.857T>C" "" "p.(Ile286Thr)" "r.(?)" "" "" "" "" "" "-" "0000016895" "00000135" "00" "803" "0" "803" "0" "n.803T>C" "" "" "" "" "" "" "" "" "-" "0000016895" "00000136" "00" "1043" "0" "1043" "0" "n.1043T>C" "" "" "" "" "" "" "" "" "-" "0000016896" "00000134" "00" "887" "0" "887" "0" "c.887C>T" "" "p.(Ala296Val)" "r.(?)" "" "" "" "" "" "-" "0000016896" "00000135" "00" "833" "0" "833" "0" "n.833C>T" "" "" "" "" "" "" "" "" "-" "0000016896" "00000136" "00" "1073" "0" "1073" "0" "n.1073C>T" "" "" "" "" "" "" "" "" "-" "0000016897" "00000134" "00" "921" "0" "921" "0" "c.921G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016897" "00000135" "00" "867" "0" "867" "0" "n.867G>A" "" "" "" "" "" "" "" "" "-" "0000016897" "00000136" "00" "1107" "0" "1107" "0" "n.1107G>A" "" "" "" "" "" "" "" "" "-" "0000016898" "00000134" "00" "952" "0" "952" "0" "c.952C>T" "" "p.(Pro318Ser)" "r.(?)" "" "" "" "" "" "-" "0000016898" "00000135" "00" "898" "0" "898" "0" "n.898C>T" "" "" "" "" "" "" "" "" "-" "0000016898" "00000136" "00" "1138" "0" "1138" "0" "n.1138C>T" "" "" "" "" "" "" "" "" "-" "0000016899" "00000134" "00" "1020" "0" "1020" "0" "c.1020G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016899" "00000135" "00" "966" "0" "966" "0" "n.966G>C" "" "" "" "" "" "" "" "" "-" "0000016899" "00000136" "00" "1206" "0" "1206" "0" "n.1206G>C" "" "" "" "" "" "" "" "" "-" "0000016900" "00000134" "00" "1054" "0" "1054" "0" "c.1054C>T" "" "p.(Arg352Trp)" "r.(?)" "" "" "" "" "" "-" "0000016900" "00000135" "00" "1000" "0" "1000" "0" "n.1000C>T" "" "" "" "" "" "" "" "" "-" "0000016900" "00000136" "00" "1240" "0" "1240" "0" "n.1240C>T" "" "" "" "" "" "" "" "" "-" "0000016901" "00000134" "00" "1138" "0" "1138" "0" "c.1138C>G" "" "p.(His380Asp)" "r.(?)" "" "" "" "" "" "-" "0000016901" "00000135" "00" "1084" "0" "1084" "0" "n.1084C>G" "" "" "" "" "" "" "" "" "-" "0000016901" "00000136" "00" "1324" "0" "1324" "0" "n.1324C>G" "" "" "" "" "" "" "" "" "-" "0000016902" "00000134" "00" "1139" "0" "1139" "0" "c.1139A>G" "" "p.(His380Arg)" "r.(?)" "" "" "" "" "" "-" "0000016902" "00000135" "00" "1085" "0" "1085" "0" "n.1085A>G" "" "" "" "" "" "" "" "" "-" "0000016902" "00000136" "00" "1325" "0" "1325" "0" "n.1325A>G" "" "" "" "" "" "" "" "" "-" "0000016903" "00000134" "00" "1183" "0" "1183" "0" "c.1183G>T" "" "p.(Val395Phe)" "r.(?)" "" "" "" "" "" "-" "0000016903" "00000135" "00" "1129" "0" "1129" "0" "n.1129G>T" "" "" "" "" "" "" "" "" "-" "0000016903" "00000136" "00" "1369" "0" "1369" "0" "n.1369G>T" "" "" "" "" "" "" "" "" "-" "0000016904" "00000134" "00" "1289" "0" "1289" "0" "c.1289A>G" "" "p.(Asn430Ser)" "r.(?)" "" "" "" "" "" "-" "0000016904" "00000135" "00" "1235" "0" "1235" "0" "n.1235A>G" "" "" "" "" "" "" "" "" "-" "0000016904" "00000136" "00" "1475" "0" "1475" "0" "n.1475A>G" "" "" "" "" "" "" "" "" "-" "0000016905" "00000134" "00" "1546" "0" "1546" "0" "c.*85T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016905" "00000135" "00" "1492" "0" "1492" "0" "n.1492T>C" "" "" "" "" "" "" "" "" "-" "0000016905" "00000136" "00" "1732" "0" "1732" "0" "n.1732T>C" "" "" "" "" "" "" "" "" "-" "0000016906" "00000134" "00" "1574" "0" "1574" "0" "c.*113G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016906" "00000135" "00" "1520" "0" "1520" "0" "n.1520G>A" "" "" "" "" "" "" "" "" "-" "0000016906" "00000136" "00" "1760" "0" "1760" "0" "n.1760G>A" "" "" "" "" "" "" "" "" "-" "0000016907" "00000134" "00" "1590" "0" "1590" "0" "c.*129C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016907" "00000135" "00" "1536" "0" "1536" "0" "n.1536C>G" "" "" "" "" "" "" "" "" "-" "0000016907" "00000136" "00" "1776" "0" "1776" "0" "n.1776C>G" "" "" "" "" "" "" "" "" "-" "0000016908" "00000134" "00" "1620" "0" "1620" "0" "c.*159C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016908" "00000135" "00" "1566" "0" "1566" "0" "n.1566C>T" "" "" "" "" "" "" "" "" "-" "0000016908" "00000136" "00" "1806" "0" "1806" "0" "n.1806C>T" "" "" "" "" "" "" "" "" "-" "0000016909" "00000134" "00" "1651" "0" "1651" "0" "c.*190T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016909" "00000135" "00" "1597" "0" "1597" "0" "n.1597T>C" "" "" "" "" "" "" "" "" "-" "0000016909" "00000136" "00" "1837" "0" "1837" "0" "n.1837T>C" "" "" "" "" "" "" "" "" "-" "0000016910" "00000134" "00" "1853" "0" "1853" "0" "c.*392G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016910" "00000135" "00" "1799" "0" "1799" "0" "n.1799G>A" "" "" "" "" "" "" "" "" "-" "0000016910" "00000136" "00" "2039" "0" "2039" "0" "n.2039G>A" "" "" "" "" "" "" "" "" "-" "0000016911" "00000134" "00" "1893" "0" "1893" "0" "c.*432T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016911" "00000135" "00" "1839" "0" "1839" "0" "n.1839T>G" "" "" "" "" "" "" "" "" "-" "0000016911" "00000136" "00" "2079" "0" "2079" "0" "n.2079T>G" "" "" "" "" "" "" "" "" "-" "0000024559" "00000134" "00" "418" "-1" "418" "-1" "c.418-1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024559" "00000135" "00" "364" "-1" "364" "-1" "n.364-1G>T" "" "" "" "" "" "" "" "" "-" "0000024559" "00000136" "00" "604" "-1" "604" "-1" "n.604-1G>T" "" "" "" "" "" "" "" "" "-" "0000024560" "00000134" "00" "568" "0" "568" "0" "c.568C>T" "" "p.(Pro190Ser)" "r.(?)" "" "" "" "" "" "-" "0000024560" "00000135" "00" "514" "0" "514" "0" "n.514C>T" "" "" "" "" "" "" "" "" "-" "0000024560" "00000136" "00" "754" "0" "754" "0" "n.754C>T" "" "" "" "" "" "" "" "" "-" "0000024561" "00000134" "00" "754" "0" "754" "0" "c.754C>T" "" "p.(Arg252Cys)" "r.(?)" "" "" "" "" "" "-" "0000024561" "00000135" "00" "700" "0" "700" "0" "n.700C>T" "" "" "" "" "" "" "" "" "-" "0000024561" "00000136" "00" "940" "0" "940" "0" "n.940C>T" "" "" "" "" "" "" "" "" "-" "0000024562" "00000134" "00" "1171" "0" "1171" "0" "c.1171T>G" "" "p.(Leu391Val)" "r.(?)" "" "" "" "" "" "-" "0000024562" "00000135" "00" "1117" "0" "1117" "0" "n.1117T>G" "" "" "" "" "" "" "" "" "-" "0000024562" "00000136" "00" "1357" "0" "1357" "0" "n.1357T>G" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0