### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFS8) # 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}}" "NDUFS8" "NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)" "11" "q13.2" "unknown" "NC_000011.9" "UD_132119106854" "" "" "" "1" "1" "7715" "4728" "602141" "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 13:50:45" "" "" "" "" "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}}" "00000218" "NDUFS8" "NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)" "001" "NM_002496.3" "" "NP_002487.1" "" "" "" "-117" "687" "633" "67798084" "67804114" "00001" "2013-11-07 13:57:02" "" "" "" "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" "" "" "" "00580" "618222" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2; MC1DN2" "618222" "" "" "" "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}}" "NDUFS8" "00011" "NDUFS8" "00580" ## 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 = 36 "{{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}}" "0000000319" "0" "99" "11" "67800467" "67800467" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:11:24" "NDUFS8_000006" "g.67800467G>C" "" "{PMID:22499348:22499348}" "" "rs397514618" "subst" "0" "; clinVar; ensembl;" "5.190" "" "" "" "" "MSCV_0000319" "" "0000000320" "0" "99" "11" "67800607" "67800607" "subst" "35" "0.000153988" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:11:25" "NDUFS8_000007" "g.67800607C>T" "" "{PMID:22499348:22499348}" "" "rs146766138" "subst" "0" "; clinVar; ensembl;" "4.660" "" "" "" "" "MSCV_0000320" "" "0000000321" "0" "99" "11" "67800614" "67800614" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:41" "NDUFS8_000002" "g.67800614C>T" "" "{PMID:9837812:9837812}" "" "rs28939679" "subst" "0" "; clinVar; Ensembl;" "4.660" "" "" "" "" "MSCV_0000321" "" "0000000322" "0" "99" "11" "67800632" "67800632" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:41" "NDUFS8_000003" "g.67800632C>T" "" "{PMID:15159508:15159508}" "" "rs121912639" "subst" "0" "; clinVar; Ensembl;" "4.480" "" "" "" "" "MSCV_0000322" "" "0000000323" "0" "99" "11" "67800683" "67800683" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:42" "NDUFS8_000004" "g.67800683G>A" "" "{PMID:9837812:9837812}" "" "rs121912638" "subst" "0" "; clinVar; Ensembl;" "3.710" "" "" "" "" "MSCV_0000323" "" "0000000324" "0" "99" "11" "67803760" "67803760" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:43" "NDUFS8_000005" "g.67803760G>A" "" "{PMID:15159508:15159508}" "" "rs111033588" "subst" "0" "; clinVar; Ensembl;" "3.770" "" "" "" "" "MSCV_0000324" "" "0000000325" "0" "99" "11" "67803823" "67803823" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:33" "NDUFS8_000001" "g.67803823C>A" "" "{PMID:22499348:22499348}" "" "rs397514617" "subst" "0" "; clinVar; ensembl;" "4.680" "" "" "" "" "MSCV_0000325" "" "0000016559" "0" "55" "11" "67798103" "67798103" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:34:08" "NDUFS8_000028" "g.67798103G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016559" "" "0000016560" "0" "55" "11" "67798125" "67798125" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:26" "NDUFS8_000008" "g.67798125C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016560" "" "0000016561" "0" "77" "11" "67799758" "67799758" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:28" "NDUFS8_000009" "g.67799758C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016561" "" "0000016562" "0" "55" "11" "67800413" "67800413" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:30" "NDUFS8_000010" "g.67800413G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016562" "" "0000016563" "0" "99" "11" "67800467" "67800467" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:31" "NDUFS8_000006" "g.67800467G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000319" "" "0000016564" "0" "55" "11" "67800484" "67800484" "subst" "35" "0.0000769941" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:33" "NDUFS8_000011" "g.67800484G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016564" "" "0000016565" "0" "11" "11" "67800494" "67800494" "subst" "35" "0.9749" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:34" "NDUFS8_000012" "g.67800494T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016565" "" "0000016566" "0" "55" "11" "67800564" "67800564" "subst" "35" "0.000307977" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:35" "NDUFS8_000013" "g.67800564C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016566" "" "0000016567" "0" "55" "11" "67800607" "67800607" "subst" "35" "0.000153988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:36" "NDUFS8_000007" "g.67800607C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000320" "" "0000016568" "0" "77" "11" "67800614" "67800614" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:05:38" "NDUFS8_000002" "g.67800614C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000321" "" "0000016569" "0" "99" "11" "67800632" "67800632" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:08" "NDUFS8_000003" "g.67800632C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000322" "" "0000016570" "0" "77" "11" "67800677" "67800677" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:09" "NDUFS8_000014" "g.67800677C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016570" "" "0000016571" "0" "55" "11" "67800683" "67800683" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:11" "NDUFS8_000004" "g.67800683G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000323" "" "0000016572" "0" "77" "11" "67800721" "67800721" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:16" "NDUFS8_000015" "g.67800721A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016572" "" "0000016573" "0" "99" "11" "67803760" "67803760" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:17" "NDUFS8_000005" "g.67803760G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000324" "" "0000016574" "0" "77" "11" "67803788" "67803788" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:19" "NDUFS8_000016" "g.67803788G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016574" "" "0000016575" "0" "77" "11" "67803806" "67803806" "subst" "35" "0.00146289" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:20" "NDUFS8_000017" "g.67803806C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016575" "" "0000016576" "0" "99" "11" "67803823" "67803823" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:21" "NDUFS8_000001" "g.67803823C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000325" "" "0000016577" "0" "55" "11" "67803831" "67803831" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:22" "NDUFS8_000018" "g.67803831G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016577" "" "0000016578" "0" "55" "11" "67803860" "67803860" "subst" "35" "0.0000769941" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:24" "NDUFS8_000019" "g.67803860C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016578" "" "0000016579" "0" "77" "11" "67803916" "67803916" "subst" "35" "0.000308024" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:25" "NDUFS8_000020" "g.67803916C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016579" "" "0000016580" "0" "77" "11" "67803919" "67803919" "subst" "35" "0.000231018" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:26" "NDUFS8_000021" "g.67803919C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016580" "" "0000016581" "0" "77" "11" "67804024" "67804024" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:28" "NDUFS8_000022" "g.67804024C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016581" "" "0000016582" "0" "55" "11" "67804025" "67804025" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:29" "NDUFS8_000023" "g.67804025G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016582" "" "0000016583" "0" "33" "11" "67804074" "67804074" "subst" "35" "0.191976" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:30" "NDUFS8_000024" "g.67804074C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016583" "" "0000016584" "0" "55" "11" "67804086" "67804086" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:06:31" "NDUFS8_000025" "g.67804086T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016584" "" "0000016585" "0" "77" "11" "67804100" "67804100" "subst" "35" "0.0246419" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:47" "NDUFS8_000026" "g.67804100A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016585" "" "0000016586" "0" "55" "11" "67804104" "67804104" "subst" "35" "0.0000770179" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:49" "NDUFS8_000027" "g.67804104C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016586" "" "0000024137" "0" "00" "11" "67799622" "67799622" "subst" "35" "0.00238682" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:29:32" "NDUFS8_000029" "g.67799622C>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 = 36 "{{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}}" "0000000319" "00000218" "99" "187" "0" "187" "0" "c.187G>C" "4/7" "p.(Glu63Gln)" "r.(?)" "probably_damaging(0.96)" "" "missense_variant" "" "" "deleterious(0)" "0000000320" "00000218" "99" "229" "0" "229" "0" "c.229C>T" "5/7" "p.(Arg77Trp)" "r.(?)" "possibly_damaging(0.772)" "" "missense_variant" "" "" "deleterious(0)" "0000000321" "00000218" "99" "236" "0" "236" "0" "c.236C>T" "5/7" "p.(Pro79Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000322" "00000218" "99" "254" "0" "254" "0" "c.254C>T" "5/7" "p.(Pro85Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000323" "00000218" "99" "305" "0" "305" "0" "c.305G>A" "5/7" "p.(Arg102His)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000324" "00000218" "99" "413" "0" "413" "0" "c.413G>A" "6/7" "p.(Arg138His)" "r.(?)" "probably_damaging(0.989)" "" "missense_variant" "" "" "deleterious(0)" "0000000325" "00000218" "99" "476" "0" "476" "0" "c.476C>A" "6/7" "p.(Ala159Asp)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0)" "0000016559" "00000218" "00" "-98" "0" "-98" "0" "c.-98G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016560" "00000218" "00" "-76" "0" "-76" "0" "c.-76C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016561" "00000218" "00" "64" "0" "64" "0" "c.64C>T" "" "p.(Pro22Ser)" "r.(?)" "" "" "" "" "" "-" "0000016562" "00000218" "00" "133" "0" "133" "0" "c.133G>A" "" "p.(Glu45Lys)" "r.(?)" "" "" "" "" "" "-" "0000016563" "00000218" "00" "187" "0" "187" "0" "c.187G>C" "" "p.(Glu63Gln)" "r.(?)" "" "" "" "" "" "-" "0000016564" "00000218" "00" "199" "5" "199" "5" "c.199+5G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016565" "00000218" "00" "199" "15" "199" "15" "c.199+15T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016566" "00000218" "00" "200" "-14" "200" "-14" "c.200-14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016567" "00000218" "00" "229" "0" "229" "0" "c.229C>T" "" "p.(Arg77Trp)" "r.(?)" "" "" "" "" "" "-" "0000016568" "00000218" "00" "236" "0" "236" "0" "c.236C>T" "" "p.(Pro79Leu)" "r.(?)" "" "" "" "" "" "-" "0000016569" "00000218" "00" "254" "0" "254" "0" "c.254C>T" "" "p.(Pro85Leu)" "r.(?)" "" "" "" "" "" "-" "0000016570" "00000218" "00" "299" "0" "299" "0" "c.299C>T" "" "p.(Ala100Val)" "r.(?)" "" "" "" "" "" "-" "0000016571" "00000218" "00" "305" "0" "305" "0" "c.305G>A" "" "p.(Arg102His)" "r.(?)" "" "" "" "" "" "-" "0000016572" "00000218" "00" "343" "0" "343" "0" "c.343A>G" "" "p.(Lys115Glu)" "r.(?)" "" "" "" "" "" "-" "0000016573" "00000218" "00" "413" "0" "413" "0" "c.413G>A" "" "p.(Arg138His)" "r.(?)" "" "" "" "" "" "-" "0000016574" "00000218" "00" "441" "0" "441" "0" "c.441G>C" "" "p.(Met147Ile)" "r.(?)" "" "" "" "" "" "-" "0000016575" "00000218" "00" "459" "0" "459" "0" "c.459C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016576" "00000218" "00" "476" "0" "476" "0" "c.476C>A" "" "p.(Ala159Asp)" "r.(?)" "" "" "" "" "" "-" "0000016577" "00000218" "00" "484" "0" "484" "0" "c.484G>A" "" "p.(Val162Met)" "r.(?)" "" "" "" "" "" "-" "0000016578" "00000218" "00" "501" "12" "501" "12" "c.501+12C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016579" "00000218" "00" "502" "-13" "502" "-13" "c.502-13C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016580" "00000218" "00" "502" "-10" "502" "-10" "c.502-10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016581" "00000218" "00" "597" "0" "597" "0" "c.597C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016582" "00000218" "00" "598" "0" "598" "0" "c.598G>A" "" "p.(Ala200Thr)" "r.(?)" "" "" "" "" "" "-" "0000016583" "00000218" "00" "647" "0" "647" "0" "c.*14C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016584" "00000218" "00" "659" "0" "659" "0" "c.*26T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016585" "00000218" "00" "673" "0" "673" "0" "c.*40A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016586" "00000218" "00" "677" "0" "677" "0" "c.*44C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024137" "00000218" "00" "4" "0" "4" "0" "c.4C>T" "" "p.(Arg2Cys)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0