### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF1) # 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}}" "NDUFAF1" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 1" "15" "q11.2-q21.3" "unknown" "NC_000015.9" "UD_136022574009" "" "" "" "1" "1" "18828" "51103" "606934" "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 13:50:45" "" "" "" "" "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 = 2 "{{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}}" "00000193" "NDUFAF1" "transcript variant 1" "001" "NM_016013.3" "" "NP_057097.2" "" "" "" "-398" "1079" "984" "41694658" "41679547" "00001" "2013-11-07 13:55:57" "" "" "" "15" "00000194" "NDUFAF1" "transcript variant 2" "002" "NR_045620.1" "" "" "" "" "" "1" "1731" "1731" "41694658" "41679547" "00001" "2013-11-07 13:55:57" "" "" "" "15" ## 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" "" "" "" "00588" "618234" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11; MC1DN11" "618234" "" "" "" "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}}" "NDUFAF1" "00011" "NDUFAF1" "00588" ## 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 = 29 "{{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}}" "0000000563" "0" "99" "15" "41687058" "41687058" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-30 06:29:49" "NDUFAF1_000001" "g.41687058T>C" "" "{PMID:17557076:17557076}" "" "rs387906957" "subst" "0" "; clinVar; Ensembl;" "5.520" "" "" "" "" "MSCV_0000563" "" "0000000564" "0" "99" "15" "41687185" "41687185" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-30 06:30:10" "NDUFAF1_000002" "g.41687185G>A" "" "{PMID:21931170:21931170}" "" "rs387906958" "subst" "0" "; clinVar; ensembl;" "4.700" "" "" "" "" "MSCV_0000564" "" "0000000565" "0" "99" "15" "41687197" "41687197" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-30 06:33:40" "NDUFAF1_000003" "g.41687197T>G" "" "{PMID:17557076:17557076}" "" "rs387906956" "subst" "0" "; clinVar; Ensembl;" "4.480" "" "" "" "" "MSCV_0000565" "" "0000017464" "0" "33" "15" "41679685" "41679685" "subst" "35" "0.138167" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-26 00:01:07" "NDUFAF1_000025" "g.41679685G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017464" "" "0000017465" "0" "33" "15" "41679717" "41679717" "subst" "35" "0.0858834" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:57:14" "NDUFAF1_000024" "g.41679717C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017465" "" "0000017466" "0" "77" "15" "41679771" "41679771" "subst" "35" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:44" "NDUFAF1_000015" "g.41679771G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017466" "" "0000017467" "0" "99" "15" "41687058" "41687058" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-23 08:01:14" "NDUFAF1_000001" "g.41687058T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000563" "" "0000017468" "0" "55" "15" "41687173" "41687173" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:47" "NDUFAF1_000016" "g.41687173C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017468" "" "0000017469" "0" "99" "15" "41687185" "41687185" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:49" "NDUFAF1_000002" "g.41687185G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000564" "" "0000017470" "0" "99" "15" "41687197" "41687197" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:51" "NDUFAF1_000003" "g.41687197T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000565" "" "0000017471" "0" "77" "15" "41688705" "41688705" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:53" "NDUFAF1_000017" "g.41688705T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017471" "" "0000017472" "0" "55" "15" "41688720" "41688720" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:55" "NDUFAF1_000018" "g.41688720T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017472" "" "0000017473" "0" "77" "15" "41688732" "41688732" "subst" "35" "0.0320621" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:57" "NDUFAF1_000019" "g.41688732C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017473" "" "0000017474" "0" "55" "15" "41688890" "41688890" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:08:59" "NDUFAF1_000020" "g.41688890A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017474" "" "0000017475" "0" "77" "15" "41689043" "41689043" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:01" "NDUFAF1_000021" "g.41689043G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017475" "" "0000017476" "0" "33" "15" "41689166" "41689166" "subst" "35" "0.189557" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:03" "NDUFAF1_000022" "g.41689166C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017476" "" "0000017477" "0" "55" "15" "41689197" "41689197" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:05" "NDUFAF1_000023" "g.41689197T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017477" "" "0000017478" "0" "33" "15" "41689232" "41689232" "subst" "35" "0.227189" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:39" "NDUFAF1_000007" "g.41689232C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017478" "" "0000017479" "0" "77" "15" "41689263" "41689263" "subst" "35" "0.00216551" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:41" "NDUFAF1_000008" "g.41689263A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017479" "" "0000017480" "0" "55" "15" "41694397" "41694397" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:43" "NDUFAF1_000009" "g.41694397G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017480" "" "0000017481" "0" "55" "15" "41694400" "41694400" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:45" "NDUFAF1_000010" "g.41694400G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017481" "" "0000017482" "0" "55" "15" "41694440" "41694440" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:47" "NDUFAF1_000011" "g.41694440G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017482" "" "0000017483" "0" "55" "15" "41694465" "41694465" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:49" "NDUFAF1_000012" "g.41694465C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017483" "" "0000017484" "0" "55" "15" "41694553" "41694553" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:51" "NDUFAF1_000013" "g.41694553G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017484" "" "0000017485" "0" "55" "15" "41694572" "41694572" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:15:53" "NDUFAF1_000014" "g.41694572A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017485" "" "0000017486" "0" "55" "15" "41694612" "41694612" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:10" "NDUFAF1_000004" "g.41694612G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017486" "" "0000017487" "0" "55" "15" "41694639" "41694639" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:12" "NDUFAF1_000005" "g.41694639G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017487" "" "0000017488" "0" "33" "15" "41694646" "41694646" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:39:55" "NDUFAF1_000006" "g.41694646T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017488" "" "0000024801" "0" "00" "15" "41687083" "41687083" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:43:24" "NDUFAF1_000026" "g.41687083C>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 = 58 "{{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}}" "0000000563" "00000193" "99" "758" "0" "758" "0" "c.758A>G" "3/6" "p.(Lys253Arg)" "r.(?)" "benign(0.383)" "" "missense_variant,splice_region_variant,NMD_transcript_variant" "" "" "tolerated(0.15)" "0000000563" "00000194" "99" "1156" "0" "1156" "0" "n.1156A>G" "3/6" "" "" "-" "" "splice_region_variant,non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000564" "00000193" "99" "631" "0" "631" "0" "c.631C>T" "3/6" "p.(Arg211Cys)" "r.(?)" "probably_damaging(1)" "" "missense_variant,NMD_transcript_variant" "" "" "deleterious(0)" "0000000564" "00000194" "99" "1029" "0" "1029" "0" "n.1029C>T" "3/6" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000565" "00000193" "99" "619" "0" "619" "0" "c.619A>C" "3/3" "p.(Thr207Pro)" "r.(?)" "probably_damaging(0.936)" "" "missense_variant" "" "" "tolerated(0.1)" "0000000565" "00000194" "99" "1017" "0" "1017" "0" "n.1017A>C" "3/6" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000017464" "00000193" "00" "941" "0" "941" "0" "c.941C>G" "" "p.(Ala314Gly)" "r.(?)" "" "" "" "" "" "-" "0000017464" "00000194" "00" "1593" "0" "1593" "0" "n.1593C>G" "" "" "" "" "" "" "" "" "-" "0000017465" "00000193" "00" "909" "0" "909" "0" "c.909G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017465" "00000194" "00" "1561" "0" "1561" "0" "n.1561G>A" "" "" "" "" "" "" "" "" "-" "0000017466" "00000193" "00" "855" "0" "855" "0" "c.855C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017466" "00000194" "00" "1507" "0" "1507" "0" "n.1507C>T" "" "" "" "" "" "" "" "" "-" "0000017467" "00000193" "00" "758" "0" "758" "0" "c.758A>G" "" "p.(Lys253Arg)" "r.(?)" "" "" "" "" "" "-" "0000017467" "00000194" "00" "1156" "0" "1156" "0" "n.1156A>G" "" "" "" "" "" "" "" "" "-" "0000017468" "00000193" "00" "643" "0" "643" "0" "c.643G>A" "" "p.(Asp215Asn)" "r.(?)" "" "" "" "" "" "-" "0000017468" "00000194" "00" "1041" "0" "1041" "0" "n.1041G>A" "" "" "" "" "" "" "" "" "-" "0000017469" "00000193" "00" "631" "0" "631" "0" "c.631C>T" "" "p.(Arg211Cys)" "r.(?)" "" "" "" "" "" "-" "0000017469" "00000194" "00" "1029" "0" "1029" "0" "n.1029C>T" "" "" "" "" "" "" "" "" "-" "0000017470" "00000193" "00" "619" "0" "619" "0" "c.619A>C" "" "p.(Thr207Pro)" "r.(?)" "" "" "" "" "" "-" "0000017470" "00000194" "00" "1017" "0" "1017" "0" "n.1017A>C" "" "" "" "" "" "" "" "" "-" "0000017471" "00000193" "00" "553" "0" "553" "0" "c.553A>G" "" "p.(Met185Val)" "r.(?)" "" "" "" "" "" "-" "0000017471" "00000194" "00" "951" "0" "951" "0" "n.951A>G" "" "" "" "" "" "" "" "" "-" "0000017472" "00000193" "00" "538" "0" "538" "0" "c.538A>G" "" "p.(Ser180Gly)" "r.(?)" "" "" "" "" "" "-" "0000017472" "00000194" "00" "936" "0" "936" "0" "n.936A>G" "" "" "" "" "" "" "" "" "-" "0000017473" "00000193" "00" "526" "0" "526" "0" "c.526G>A" "" "p.(Glu176Lys)" "r.(?)" "" "" "" "" "" "-" "0000017473" "00000194" "00" "924" "0" "924" "0" "n.924G>A" "" "" "" "" "" "" "" "" "-" "0000017474" "00000193" "00" "368" "0" "368" "0" "c.368T>C" "" "p.(Val123Ala)" "r.(?)" "" "" "" "" "" "-" "0000017474" "00000194" "00" "766" "0" "766" "0" "n.766T>C" "" "" "" "" "" "" "" "" "-" "0000017475" "00000193" "00" "215" "0" "215" "0" "c.215C>G" "" "p.(Thr72Ser)" "r.(?)" "" "" "" "" "" "-" "0000017475" "00000194" "00" "613" "0" "613" "0" "n.613C>G" "" "" "" "" "" "" "" "" "-" "0000017476" "00000193" "00" "92" "0" "92" "0" "c.92G>T" "" "p.(Arg31Leu)" "r.(?)" "" "" "" "" "" "-" "0000017476" "00000194" "00" "490" "0" "490" "0" "n.490G>T" "" "" "" "" "" "" "" "" "-" "0000017477" "00000193" "00" "61" "0" "61" "0" "c.61A>T" "" "p.(Thr21Ser)" "r.(?)" "" "" "" "" "" "-" "0000017477" "00000194" "00" "459" "0" "459" "0" "n.459A>T" "" "" "" "" "" "" "" "" "-" "0000017478" "00000193" "00" "26" "0" "26" "0" "c.26G>A" "" "p.(Arg9His)" "r.(?)" "" "" "" "" "" "-" "0000017478" "00000194" "00" "424" "0" "424" "0" "n.424G>A" "" "" "" "" "" "" "" "" "-" "0000017479" "00000193" "00" "-6" "0" "-6" "0" "c.-6T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017479" "00000194" "00" "393" "0" "393" "0" "n.393T>G" "" "" "" "" "" "" "" "" "-" "0000017480" "00000193" "00" "-137" "0" "-137" "0" "c.-137C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017480" "00000194" "00" "262" "0" "262" "0" "n.262C>T" "" "" "" "" "" "" "" "" "-" "0000017481" "00000193" "00" "-140" "0" "-140" "0" "c.-140C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017481" "00000194" "00" "259" "0" "259" "0" "n.259C>T" "" "" "" "" "" "" "" "" "-" "0000017482" "00000193" "00" "-180" "0" "-180" "0" "c.-180C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017482" "00000194" "00" "219" "0" "219" "0" "n.219C>T" "" "" "" "" "" "" "" "" "-" "0000017483" "00000193" "00" "-205" "0" "-205" "0" "c.-205G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017483" "00000194" "00" "194" "0" "194" "0" "n.194G>C" "" "" "" "" "" "" "" "" "-" "0000017484" "00000193" "00" "-293" "0" "-293" "0" "c.-293C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017484" "00000194" "00" "106" "0" "106" "0" "n.106C>T" "" "" "" "" "" "" "" "" "-" "0000017485" "00000193" "00" "-312" "0" "-312" "0" "c.-312T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017485" "00000194" "00" "87" "0" "87" "0" "n.87T>G" "" "" "" "" "" "" "" "" "-" "0000017486" "00000193" "00" "-352" "0" "-352" "0" "c.-352C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017486" "00000194" "00" "47" "0" "47" "0" "n.47C>T" "" "" "" "" "" "" "" "" "-" "0000017487" "00000193" "00" "-379" "0" "-379" "0" "c.-379C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017487" "00000194" "00" "20" "0" "20" "0" "n.20C>T" "" "" "" "" "" "" "" "" "-" "0000017488" "00000193" "00" "-386" "0" "-386" "0" "c.-386A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017488" "00000194" "00" "13" "0" "13" "0" "n.13A>T" "" "" "" "" "" "" "" "" "-" "0000024801" "00000193" "00" "733" "0" "733" "0" "c.733G>A" "" "p.(Gly245Arg)" "r.(?)" "" "" "" "" "" "-" "0000024801" "00000194" "00" "1131" "0" "1131" "0" "n.1131G>A" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0