### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ETFDH) # 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}}" "ETFDH" "electron-transferring-flavoprotein dehydrogenase" "4" "q32-q35" "unknown" "NC_000004.11" "UD_132118877159" "" "" "" "1" "1" "3483" "2110" "231675" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 = 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}}" "00000118" "ETFDH" "electron-transferring-flavoprotein dehydrogenase" "001" "NM_004453.2" "" "NP_004444.2" "" "" "" "-332" "2017" "1854" "159593277" "159629842" "00001" "2013-11-07 13:48:10" "" "" "" "4" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00439" "MADD" "MULTIPLE ACYL-CoA DEHYDROGENASE DEFICIENCY; MADD" "231680" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ETFDH" "00439" ## 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 = 55 "{{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}}" "0000020705" "0" "55" "4" "159593294" "159593294" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:29" "ETFDH_000034" "g.159593294G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020705" "" "0000020706" "0" "33" "4" "159593370" "159593370" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:31" "C4orf46_000001" "g.159593370G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020706" "" "0000020707" "0" "55" "4" "159593435" "159593435" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:33" "ETFDH_000035" "g.159593435A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020707" "" "0000020708" "0" "55" "4" "159593512" "159593512" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:34" "ETFDH_000036" "g.159593512G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020708" "" "0000020709" "0" "55" "4" "159593620" "159593620" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:35" "ETFDH_000037" "g.159593620G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020709" "" "0000020710" "0" "55" "4" "159601616" "159601616" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-14 05:47:45" "ETFDH_000038" "g.159601616C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020710" "" "0000020711" "0" "99" "4" "159601634" "159601635" "ins" "35" "0.000239617" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-11-09 15:42:47" "ETFDH_000039" "g.159601634_159601635insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020711" "" "0000020712" "0" "55" "4" "159601647" "159601647" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:46" "ETFDH_000009" "g.159601647T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020712" "" "0000020713" "0" "55" "4" "159601663" "159601663" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:47" "ETFDH_000010" "g.159601663C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020713" "" "0000020714" "0" "77" "4" "159601675" "159601675" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-06-22 00:35:46" "ETFDH_000011" "g.159601675A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020714" "" "0000020715" "0" "11" "4" "159601676" "159601676" "subst" "35" "0.656567" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:51" "ETFDH_000012" "g.159601676C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020715" "" "0000020716" "0" "55" "4" "159601726" "159601726" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:52" "ETFDH_000013" "g.159601726A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020716" "" "0000020717" "0" "99" "4" "159603421" "159603421" "subst" "51" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 20:59:07" "ETFDH_000014" "g.159603421G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020717" "" "0000020718" "0" "33" "4" "159603552" "159603552" "subst" "35" "0.00484392" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:54" "ETFDH_000015" "g.159603552C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020718" "" "0000020719" "0" "55" "4" "159606244" "159606244" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:55" "ETFDH_000016" "g.159606244T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020719" "" "0000020720" "0" "33" "4" "159611535" "159611535" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-02 08:36:40" "ETFDH_000017" "g.159611535T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020720" "" "0000020721" "0" "55" "4" "159611572" "159611572" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-06 05:28:18" "ETFDH_000018" "g.159611572C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020721" "" "0000020722" "0" "55" "4" "159618720" "159618720" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:56:59" "ETFDH_000019" "g.159618720A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020722" "" "0000020723" "0" "99" "4" "159620167" "159620167" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-29 17:17:34" "ETFDH_000020" "g.159620167T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020723" "" "0000020724" "0" "55" "4" "159620214" "159620214" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-01-05 19:18:09" "ETFDH_000021" "g.159620214C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020724" "" "0000020725" "0" "55" "4" "159620250" "159620250" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:03" "ETFDH_000022" "g.159620250G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020725" "" "0000020726" "0" "55" "4" "159620289" "159620289" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-17 09:10:22" "ETFDH_000023" "g.159620289C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020726" "" "0000020727" "0" "99" "4" "159624588" "159624588" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:05" "ETFDH_000024" "g.159624588T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020727" "" "0000020728" "0" "77" "4" "159624599" "159624599" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-02 06:36:06" "ETFDH_000025" "g.159624599G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020728" "" "0000020729" "0" "99" "4" "159624692" "159624692" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:08" "ETFDH_000026" "g.159624692G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020729" "" "0000020730" "0" "77" "4" "159624744" "159624744" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-28 07:34:33" "ETFDH_000027" "g.159624744G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020730" "" "0000020731" "0" "77" "4" "159627380" "159627380" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-30 03:12:05" "ETFDH_000028" "g.159627380C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020731" "" "0000020732" "0" "99" "4" "159627422" "159627422" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-28 07:34:33" "ETFDH_000029" "g.159627422C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020732" "" "0000020733" "0" "55" "4" "159627469" "159627469" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:13" "ETFDH_000030" "g.159627469G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020733" "" "0000020734" "0" "99" "4" "159627503" "159627503" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:14" "ETFDH_000031" "g.159627503C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020734" "" "0000020735" "0" "77" "4" "159627538" "159627538" "subst" "35" "0.00569056" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:57:16" "ETFDH_000032" "g.159627538A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020735" "" "0000020736" "0" "00" "4" "159627799" "159627799" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-24 05:19:40" "ETFDH_000033" "g.159627799T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020736" "" "0000020737" "0" "77" "4" "159627843" "159627843" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:39" "ETFDH_000040" "g.159627843G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020737" "" "0000020738" "0" "33" "4" "159627845" "159627845" "subst" "35" "0.00438259" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:40" "ETFDH_000041" "g.159627845T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020738" "" "0000020739" "0" "00" "4" "159627880" "159627881" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:06:41" "ETFDH_000042" "g.159627880_159627881del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020739" "" "0000020740" "0" "77" "4" "159627902" "159627902" "subst" "51" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-30 03:12:05" "ETFDH_000001" "g.159627902A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020740" "" "0000020741" "0" "55" "4" "159628003" "159628003" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-16 09:05:17" "ETFDH_000002" "g.159628003G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020741" "" "0000020742" "0" "33" "4" "159628017" "159628017" "subst" "35" "0.0133867" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:42" "ETFDH_000003" "g.159628017C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020742" "" "0000020743" "0" "55" "4" "159629558" "159629558" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 07:13:01" "ETFDH_000004" "g.159629558G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020743" "" "0000020744" "0" "00" "4" "159629598" "159629599" "del" "35" "0.0000798722" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:44" "ETFDH_000005" "g.159629598_159629599del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020744" "" "0000020745" "0" "99" "4" "159629647" "159629647" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 07:13:01" "ETFDH_000006" "g.159629647del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020745" "" "0000020746" "0" "00" "4" "159629732" "159629732" "del" "35" "0.000479233" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-14 16:31:38" "ETFDH_000007" "g.159629732del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020746" "" "0000020747" "0" "11" "4" "159629814" "159629814" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:04:49" "ETFDH_000008" "g.159629814A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020747" "" "0000026236" "0" "00" "4" "159593642" "159593642" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:23:37" "ETFDH_000054" "g.159593642G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026237" "0" "00" "4" "159601705" "159601705" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:37:06" "ETFDH_000053" "g.159601705C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026238" "0" "00" "4" "159603466" "159603467" "ins" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-27 21:57:53" "ETFDH_000052" "g.159603466_159603467insGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026239" "0" "00" "4" "159603551" "159603551" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:00" "ETFDH_000043" "g.159603551T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026240" "0" "00" "4" "159605751" "159605751" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:05" "ETFDH_000044" "g.159605751T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026241" "0" "00" "4" "159606310" "159606310" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-22 15:06:10" "ETFDH_000045" "g.159606310G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026242" "0" "00" "4" "159616771" "159616771" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:16" "ETFDH_000046" "g.159616771A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026243" "0" "00" "4" "159616799" "159616799" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:22" "ETFDH_000047" "g.159616799T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026244" "0" "00" "4" "159618841" "159618841" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-29 17:17:34" "ETFDH_000048" "g.159618841T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026245" "0" "00" "4" "159620284" "159620284" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:32" "ETFDH_000049" "g.159620284T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026246" "0" "00" "4" "159627421" "159627421" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:38" "ETFDH_000050" "g.159627421C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026247" "0" "00" "4" "159627430" "159627430" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:48:43" "ETFDH_000051" "g.159627430C>T" "" "" "" "" "" "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 = 55 "{{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}}" "0000020705" "00000118" "00" "-315" "0" "-315" "0" "c.-315G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020706" "00000118" "00" "-239" "0" "-239" "0" "c.-239G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020707" "00000118" "00" "-174" "0" "-174" "0" "c.-174A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020708" "00000118" "00" "-97" "0" "-97" "0" "c.-97G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020709" "00000118" "00" "12" "0" "12" "0" "c.12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020710" "00000118" "00" "35" "-3" "35" "-3" "c.35-3C>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020711" "00000118" "00" "50" "0" "51" "0" "c.50_51insT" "" "p.(Ala18Cysfs*5)" "r.(?)" "" "" "" "" "" "-" "0000020712" "00000118" "00" "63" "0" "63" "0" "c.63T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020713" "00000118" "00" "79" "0" "79" "0" "c.79C>T" "" "p.(Pro27Ser)" "r.(?)" "" "" "" "" "" "-" "0000020714" "00000118" "00" "91" "0" "91" "0" "c.91A>G" "" "p.(Thr31Ala)" "r.(?)" "" "" "" "" "" "-" "0000020715" "00000118" "00" "92" "0" "92" "0" "c.92C>T" "" "p.(Thr31Ile)" "r.(?)" "" "" "" "" "" "-" "0000020716" "00000118" "00" "142" "0" "142" "0" "c.142A>G" "" "p.(Ile48Val)" "r.(?)" "" "" "" "" "" "-" "0000020717" "00000118" "00" "250" "0" "250" "0" "c.250G>A" "" "p.(Ala84Thr)" "r.(?)" "" "" "" "" "" "-" "0000020718" "00000118" "00" "381" "0" "381" "0" "c.381C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020719" "00000118" "00" "488" "-9" "488" "-9" "c.488-9T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020720" "00000118" "00" "642" "0" "642" "0" "c.642T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020721" "00000118" "00" "679" "0" "679" "0" "c.679C>A" "" "p.(Pro227Thr)" "r.(?)" "" "" "" "" "" "-" "0000020722" "00000118" "00" "841" "0" "841" "0" "c.841A>G" "" "p.(Ile281Val)" "r.(?)" "" "" "" "" "" "-" "0000020723" "00000118" "00" "1001" "0" "1001" "0" "c.1001T>C" "" "p.(Leu334Pro)" "r.(?)" "" "" "" "" "" "-" "0000020724" "00000118" "00" "1048" "0" "1048" "0" "c.1048C>T" "" "p.(Arg350Trp)" "r.(?)" "" "" "" "" "" "-" "0000020725" "00000118" "00" "1084" "0" "1084" "0" "c.1084G>A" "" "p.(Gly362Arg)" "r.(?)" "" "" "" "" "" "-" "0000020726" "00000118" "00" "1116" "7" "1116" "7" "c.1116+7C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020727" "00000118" "00" "1130" "0" "1130" "0" "c.1130T>C" "" "p.(Leu377Pro)" "r.(?)" "" "" "" "" "" "-" "0000020728" "00000118" "00" "1141" "0" "1141" "0" "c.1141G>C" "" "p.(Gly381Arg)" "r.(?)" "" "" "" "" "" "-" "0000020729" "00000118" "00" "1234" "0" "1234" "0" "c.1234G>T" "" "p.(Glu412*)" "r.(?)" "" "" "" "" "" "-" "0000020730" "00000118" "00" "1285" "1" "1285" "1" "c.1285+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020731" "00000118" "00" "1325" "0" "1325" "0" "c.1325C>T" "" "p.(Ser442Leu)" "r.(?)" "" "" "" "" "" "-" "0000020732" "00000118" "00" "1367" "0" "1367" "0" "c.1367C>T" "" "p.(Pro456Leu)" "r.(?)" "" "" "" "" "" "-" "0000020733" "00000118" "00" "1414" "0" "1414" "0" "c.1414G>A" "" "p.(Gly472Arg)" "r.(?)" "" "" "" "" "" "-" "0000020734" "00000118" "00" "1448" "0" "1448" "0" "c.1448C>T" "" "p.(Pro483Leu)" "r.(?)" "" "" "" "" "" "-" "0000020735" "00000118" "00" "1468" "15" "1468" "15" "c.1468+15A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020736" "00000118" "00" "1487" "0" "1487" "0" "c.1487T>C" "" "p.(Leu496Pro)" "r.(?)" "" "" "" "" "" "-" "0000020737" "00000118" "00" "1531" "0" "1531" "0" "c.1531G>A" "" "p.(Asp511Asn)" "r.(?)" "" "" "" "" "" "-" "0000020738" "00000118" "00" "1533" "0" "1533" "0" "c.1533T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020739" "00000118" "00" "1568" "0" "1569" "0" "c.1568_1569del" "" "p.(Leu524Glufs*4)" "r.(?)" "" "" "" "" "" "-" "0000020740" "00000118" "00" "1590" "0" "1590" "0" "c.1590A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020741" "00000118" "00" "1690" "1" "1690" "1" "c.1690+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000020742" "00000118" "00" "1690" "15" "1690" "15" "c.1690+15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020743" "00000118" "00" "1733" "0" "1733" "0" "c.1733G>A" "" "p.(Arg578Gln)" "r.(?)" "" "" "" "" "" "-" "0000020744" "00000118" "00" "1773" "0" "1774" "0" "c.1773_1774del" "" "p.(Cys592*)" "r.(?)" "" "" "" "" "" "-" "0000020745" "00000118" "00" "1822" "0" "1822" "0" "c.1822del" "" "p.(Gly608Valfs*31)" "r.(?)" "" "" "" "" "" "-" "0000020746" "00000118" "00" "1907" "0" "1907" "0" "c.*53del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020747" "00000118" "00" "1989" "0" "1989" "0" "c.*135A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026236" "00000118" "00" "34" "0" "34" "0" "c.34G>C" "" "p.(Ala12Pro)" "r.(?)" "" "" "" "" "" "-" "0000026237" "00000118" "00" "121" "0" "121" "0" "c.121C>T" "" "p.(Arg41*)" "r.(?)" "" "" "" "" "" "-" "0000026238" "00000118" "00" "295" "0" "296" "0" "c.295_296insGT" "" "p.(Leu102Valfs*2)" "r.(?)" "" "" "" "" "" "-" "0000026239" "00000118" "00" "380" "0" "380" "0" "c.380T>A" "" "p.(Leu127His)" "r.(?)" "" "" "" "" "" "-" "0000026240" "00000118" "00" "413" "0" "413" "0" "c.413T>G" "" "p.(Leu138Arg)" "r.(?)" "" "" "" "" "" "-" "0000026241" "00000118" "00" "545" "0" "545" "0" "c.545G>A" "" "p.(Trp182*)" "r.(?)" "" "" "" "" "" "-" "0000026242" "00000118" "00" "807" "0" "807" "0" "c.807A>C" "" "p.(Gln269His)" "r.(?)" "" "" "" "" "" "-" "0000026243" "00000118" "00" "831" "4" "831" "4" "c.831+4T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026244" "00000118" "00" "962" "0" "962" "0" "c.962T>C" "" "p.(Leu321Pro)" "r.(?)" "" "" "" "" "" "-" "0000026245" "00000118" "00" "1116" "2" "1116" "2" "c.1116+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000026246" "00000118" "00" "1366" "0" "1366" "0" "c.1366C>T" "" "p.(Pro456Ser)" "r.(?)" "" "" "" "" "" "-" "0000026247" "00000118" "00" "1375" "0" "1375" "0" "c.1375C>T" "" "p.(His459Tyr)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0