### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DLD) # 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}}" "DLD" "dihydrolipoamide dehydrogenase" "7" "q31-q32" "unknown" "NC_000007.13" "UD_132084405078" "" "" "" "1" "1" "2898" "1738" "238331" "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}}" "00000095" "DLD" "dihydrolipoamide dehydrogenase" "001" "NM_000108.3" "" "NP_000099.2" "" "" "" "-110" "3469" "1530" "107531586" "107561643" "00001" "2013-11-07 13:47:33" "" "" "" "7" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## 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 = 42 "{{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}}" "0000022217" "0" "55" "7" "107531688" "107531688" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:13" "DLD_000039" "g.107531688G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022217" "" "0000022218" "0" "77" "7" "107531729" "107531729" "subst" "35" "0.00791942" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:14" "DLD_000040" "g.107531729G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022218" "" "0000022219" "0" "55" "7" "107533679" "107533679" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:15" "DLD_000041" "g.107533679A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022219" "" "0000022220" "0" "55" "7" "107533705" "107533705" "subst" "35" "0.00115331" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:42:17" "DLD_000042" "g.107533705A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022220" "" "0000022221" "0" "55" "7" "107533721" "107533721" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:18:57" "DLD_000037" "g.107533721C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022221" "" "0000022222" "0" "55" "7" "107533722" "107533722" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 16:37:34" "DLD_000038" "g.107533722G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022222" "" "0000022223" "0" "77" "7" "107542820" "107542820" "subst" "35" "0.0107643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:16" "DLD_000026" "g.107542820T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022223" "" "0000022224" "0" "00" "7" "107542850" "107542850" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-16 23:44:36" "DLD_000027" "g.107542850del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022224" "" "0000022225" "0" "11" "7" "107545799" "107545799" "subst" "51" "0.648516" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-26 21:45:15" "DLD_000001" "g.107545799T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022225" "" "0000022226" "0" "77" "7" "107545910" "107545910" "subst" "35" "0.00476703" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:29" "DLD_000002" "g.107545910A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022226" "" "0000022227" "0" "55" "7" "107546806" "107546806" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:31" "DLD_000003" "g.107546806T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022227" "" "0000022228" "0" "33" "7" "107546820" "107546820" "subst" "35" "0.0634323" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:33" "DLD_000004" "g.107546820G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022228" "" "0000022229" "0" "33" "7" "107555937" "107555937" "subst" "35" "0.0255267" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:39" "DLD_000005" "g.107555937T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022229" "" "0000022230" "0" "55" "7" "107556029" "107556029" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:41" "DLD_000006" "g.107556029A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022230" "" "0000022231" "0" "55" "7" "107556126" "107556126" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-17 17:14:21" "DLD_000007" "g.107556126G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022231" "" "0000022232" "0" "55" "7" "107557899" "107557899" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:45" "DLD_000008" "g.107557899A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022232" "" "0000022233" "0" "33" "7" "107558483" "107558483" "subst" "35" "0.0434415" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:47" "DLD_000009" "g.107558483C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022233" "" "0000022234" "0" "55" "7" "107559632" "107559632" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:49" "DLD_000010" "g.107559632C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022234" "" "0000022235" "0" "55" "7" "107559677" "107559677" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:51" "DLD_000011" "g.107559677G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022235" "" "0000022236" "0" "11" "7" "107559722" "107559722" "subst" "51" "0.297577" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 23:45:23" "DLD_000012" "g.107559722A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022236" "" "0000022237" "0" "11" "7" "107559732" "107559732" "subst" "35" "0.0808032" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:55" "DLD_000013" "g.107559732G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022237" "" "0000022238" "0" "55" "7" "107559871" "107559871" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-09 12:28:04" "DLD_000014" "g.107559871T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022238" "" "0000022239" "0" "11" "7" "107559911" "107559911" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-17 03:02:43" "DLD_000015" "g.107559911G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022239" "" "0000022240" "0" "55" "7" "107559929" "107559929" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:15:59" "DLD_000016" "g.107559929C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022240" "" "0000022241" "0" "55" "7" "107560059" "107560059" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:01" "DLD_000017" "g.107560059A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022241" "" "0000022242" "0" "55" "7" "107560174" "107560174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:02" "DLD_000018" "g.107560174G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022242" "" "0000022243" "0" "11" "7" "107560191" "107560191" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:03" "DLD_000019" "g.107560191C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022243" "" "0000022244" "0" "55" "7" "107560202" "107560202" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 23:45:23" "DLD_000020" "g.107560202T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022244" "" "0000022245" "0" "55" "7" "107560352" "107560352" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:06" "DLD_000021" "g.107560352G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022245" "" "0000022246" "0" "33" "7" "107560559" "107560559" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-26 21:45:16" "DLD_000022" "g.107560559C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022246" "" "0000022247" "0" "33" "7" "107560651" "107560651" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:09" "DLD_000023" "g.107560651G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022247" "" "0000022248" "0" "11" "7" "107560682" "107560682" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:11" "DLD_000024" "g.107560682T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022248" "" "0000022249" "0" "55" "7" "107560792" "107560792" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:16:13" "DLD_000025" "g.107560792A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022249" "" "0000022250" "0" "55" "7" "107560796" "107560796" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:18" "DLD_000028" "g.107560796C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022250" "" "0000022251" "0" "55" "7" "107561011" "107561011" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:19" "DLD_000029" "g.107561011C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022251" "" "0000022252" "0" "11" "7" "107561155" "107561155" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:20" "DLD_000030" "g.107561155T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022252" "" "0000022253" "0" "33" "7" "107561392" "107561392" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:22" "DLD_000031" "g.107561392G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022253" "" "0000022254" "0" "55" "7" "107561428" "107561428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:23" "DLD_000032" "g.107561428C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022254" "" "0000022255" "0" "55" "7" "107561440" "107561440" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-26 21:45:16" "DLD_000033" "g.107561440T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022255" "" "0000022256" "0" "00" "7" "107561495" "107561498" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:25" "DLD_000034" "g.107561495_107561498del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022256" "" "0000022257" "0" "55" "7" "107561561" "107561561" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-11 14:39:49" "DLD_000035" "g.107561561A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022257" "" "0000022258" "0" "55" "7" "107561581" "107561581" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:27" "DLD_000036" "g.107561581A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022258" "" ## 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 = 42 "{{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}}" "0000022217" "00000095" "00" "-8" "0" "-8" "0" "c.-8G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022218" "00000095" "00" "34" "0" "34" "0" "c.34G>A" "" "p.(Ala12Thr)" "r.(?)" "" "" "" "" "" "-" "0000022219" "00000095" "00" "74" "0" "74" "0" "c.74A>C" "" "p.(Gln25Pro)" "r.(?)" "" "" "" "" "" "-" "0000022220" "00000095" "00" "100" "0" "100" "0" "c.100A>G" "" "p.(Thr34Ala)" "r.(?)" "" "" "" "" "" "-" "0000022221" "00000095" "00" "116" "0" "116" "0" "c.116C>T" "" "p.(Pro39Leu)" "r.(?)" "" "" "" "" "" "-" "0000022222" "00000095" "00" "117" "0" "117" "0" "c.117G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022223" "00000095" "00" "249" "0" "249" "0" "c.249T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022224" "00000095" "00" "267" "12" "267" "12" "c.267+12del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022225" "00000095" "00" "439" "-7" "439" "-7" "c.439-7T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022226" "00000095" "00" "543" "0" "543" "0" "c.543A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022227" "00000095" "00" "677" "0" "677" "0" "c.677T>C" "" "p.(Val226Ala)" "r.(?)" "" "" "" "" "" "-" "0000022228" "00000095" "00" "684" "7" "684" "7" "c.684+7G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022229" "00000095" "00" "685" "-14" "685" "-14" "c.685-14T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022230" "00000095" "00" "763" "0" "763" "0" "c.763A>C" "" "p.(Met255Leu)" "r.(?)" "" "" "" "" "" "-" "0000022231" "00000095" "00" "860" "0" "860" "0" "c.860G>A" "" "p.(Gly287Glu)" "r.(?)" "" "" "" "" "" "-" "0000022232" "00000095" "00" "1228" "0" "1228" "0" "c.1228A>C" "" "p.(Lys410Gln)" "r.(?)" "" "" "" "" "" "-" "0000022233" "00000095" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022234" "00000095" "00" "1465" "-7" "1465" "-7" "c.1465-7C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022235" "00000095" "00" "1503" "0" "1503" "0" "c.1503G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022236" "00000095" "00" "1548" "0" "1548" "0" "c.*18A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022237" "00000095" "00" "1558" "0" "1558" "0" "c.*28G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022238" "00000095" "00" "1697" "0" "1697" "0" "c.*167T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022239" "00000095" "00" "1737" "0" "1737" "0" "c.*207G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022240" "00000095" "00" "1755" "0" "1755" "0" "c.*225C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022241" "00000095" "00" "1885" "0" "1885" "0" "c.*355A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022242" "00000095" "00" "2000" "0" "2000" "0" "c.*470G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022243" "00000095" "00" "2017" "0" "2017" "0" "c.*487C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022244" "00000095" "00" "2028" "0" "2028" "0" "c.*498T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022245" "00000095" "00" "2178" "0" "2178" "0" "c.*648G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022246" "00000095" "00" "2385" "0" "2385" "0" "c.*855C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022247" "00000095" "00" "2477" "0" "2477" "0" "c.*947G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022248" "00000095" "00" "2508" "0" "2508" "0" "c.*978T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022249" "00000095" "00" "2618" "0" "2618" "0" "c.*1088A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022250" "00000095" "00" "2622" "0" "2622" "0" "c.*1092C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022251" "00000095" "00" "2837" "0" "2837" "0" "c.*1307C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022252" "00000095" "00" "2981" "0" "2981" "0" "c.*1451T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022253" "00000095" "00" "3218" "0" "3218" "0" "c.*1688G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022254" "00000095" "00" "3254" "0" "3254" "0" "c.*1724C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022255" "00000095" "00" "3266" "0" "3266" "0" "c.*1736T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022256" "00000095" "00" "3321" "0" "3324" "0" "c.*1791_*1794del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022257" "00000095" "00" "3387" "0" "3387" "0" "c.*1857A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022258" "00000095" "00" "3407" "0" "3407" "0" "c.*1877A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0