### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF4) # 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}}" "NDUFAF4" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 4" "6" "q16.3" "unknown" "NC_000006.11" "UD_132118336939" "" "" "" "1" "1" "21034" "29078" "611776" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:46:20" "" "" "" "" "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}}" "00000953" "NDUFAF4" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4" "001" "NM_014165.3" "" "NP_054884.1" "" "" "" "-90" "2321" "528" "97345767" "97337187" "00001" "2013-11-12 21:50:40" "" "" "" "6" ## 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" "" "" "" "00591" "618237" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15; MC1DN15" "618237" "" "" "" "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}}" "NDUFAF4" "00011" "NDUFAF4" "00591" ## 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 = 43 "{{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}}" "0000001202" "0" "99" "6" "97344666" "97344666" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-06-03 00:28:53" "NDUFAF4_000001" "g.97344666A>G" "" "{PMID:18179882:18179882}" "" "rs63751061" "subst" "0" "; clinVar; Ensembl;" "3.930" "" "" "" "" "MSCV_0001202" "" "0000021738" "0" "55" "6" "97337232" "97337232" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:58:42" "NDUFAF4_000039" "g.97337232A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021738" "" "0000021739" "0" "55" "6" "97337253" "97337253" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:58:43" "NDUFAF4_000040" "g.97337253A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021739" "" "0000021740" "0" "55" "6" "97337309" "97337309" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:58:44" "NDUFAF4_000041" "g.97337309A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021740" "" "0000021741" "0" "55" "6" "97337338" "97337338" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:50" "NDUFAF4_000033" "g.97337338A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021741" "" "0000021742" "0" "55" "6" "97337493" "97337493" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:56" "NDUFAF4_000002" "g.97337493T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021742" "" "0000021743" "0" "55" "6" "97337499" "97337499" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:57" "NDUFAF4_000003" "g.97337499A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021743" "" "0000021744" "0" "55" "6" "97337533" "97337533" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:58" "NDUFAF4_000004" "g.97337533A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021744" "" "0000021745" "0" "33" "6" "97337537" "97337537" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-17 19:25:47" "NDUFAF4_000005" "g.97337537C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021745" "" "0000021746" "0" "55" "6" "97337605" "97337605" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:00" "NDUFAF4_000006" "g.97337605C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021746" "" "0000021747" "0" "55" "6" "97337617" "97337617" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:02" "NDUFAF4_000007" "g.97337617C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021747" "" "0000021748" "0" "55" "6" "97337618" "97337618" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:03" "NDUFAF4_000008" "g.97337618G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021748" "" "0000021749" "0" "55" "6" "97337777" "97337777" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 22:43:59" "NDUFAF4_000009" "g.97337777T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021749" "" "0000021750" "0" "55" "6" "97337826" "97337826" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:05" "NDUFAF4_000010" "g.97337826T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021750" "" "0000021751" "0" "55" "6" "97337859" "97337859" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:07" "NDUFAF4_000011" "g.97337859T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021751" "" "0000021752" "0" "55" "6" "97337918" "97337918" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:08" "NDUFAF4_000012" "g.97337918A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021752" "" "0000021753" "0" "55" "6" "97337927" "97337927" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-05-27 13:37:17" "NDUFAF4_000013" "g.97337927T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021753" "" "0000021754" "0" "55" "6" "97337972" "97337972" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:10" "NDUFAF4_000014" "g.97337972A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021754" "" "0000021755" "0" "55" "6" "97337994" "97337994" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:11" "NDUFAF4_000015" "g.97337994T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021755" "" "0000021756" "0" "55" "6" "97338290" "97338290" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:12" "NDUFAF4_000016" "g.97338290C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021756" "" "0000021757" "0" "55" "6" "97338368" "97338368" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:14" "NDUFAF4_000017" "g.97338368T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021757" "" "0000021758" "0" "55" "6" "97338521" "97338521" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:15" "NDUFAF4_000018" "g.97338521T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021758" "" "0000021759" "0" "55" "6" "97338593" "97338593" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:16" "NDUFAF4_000019" "g.97338593G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021759" "" "0000021760" "0" "11" "6" "97338598" "97338598" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:28" "NDUFAF4_000020" "g.97338598A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021760" "" "0000021761" "0" "55" "6" "97338630" "97338630" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:30" "NDUFAF4_000021" "g.97338630T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021761" "" "0000021762" "0" "33" "6" "97338648" "97338648" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:31" "NDUFAF4_000022" "g.97338648T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021762" "" "0000021763" "0" "33" "6" "97338657" "97338657" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:32" "NDUFAF4_000023" "g.97338657T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021763" "" "0000021764" "0" "33" "6" "97338679" "97338679" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:33" "NDUFAF4_000024" "g.97338679A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021764" "" "0000021765" "0" "55" "6" "97338686" "97338686" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:35" "NDUFAF4_000025" "g.97338686A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021765" "" "0000021766" "0" "55" "6" "97338691" "97338691" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:36" "NDUFAF4_000026" "g.97338691G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021766" "" "0000021767" "0" "77" "6" "97339017" "97339017" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:52" "NDUFAF4_000034" "g.97339017A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021767" "" "0000021768" "0" "33" "6" "97339078" "97339078" "subst" "35" "0.46924" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:53" "NDUFAF4_000035" "g.97339078A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021768" "" "0000021769" "0" "11" "6" "97339088" "97339088" "subst" "35" "0.89217" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:54" "NDUFAF4_000036" "g.97339088C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021769" "" "0000021770" "0" "11" "6" "97339275" "97339276" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-29 23:21:25" "NDUFAF4_000037" "g.97339275_97339276insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021770" "" "0000021771" "0" "55" "6" "97344637" "97344637" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-24 03:37:53" "NDUFAF4_000038" "g.97344637G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021771" "" "0000021772" "0" "99" "6" "97344666" "97344666" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:58" "NDUFAF4_000001" "g.97344666A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001202" "" "0000021773" "0" "55" "6" "97344676" "97344676" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:36:39" "NDUFAF4_000027" "g.97344676G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021773" "" "0000021774" "0" "55" "6" "97345701" "97345701" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:36:41" "NDUFAF4_000028" "g.97345701G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021774" "" "0000021775" "0" "00" "6" "97345709" "97345709" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:36:42" "NDUFAF4_000029" "g.97345709del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021775" "" "0000021776" "0" "55" "6" "97345710" "97345710" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:36:43" "NDUFAF4_000030" "g.97345710C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021776" "" "0000021777" "0" "55" "6" "97345717" "97345717" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:36:44" "NDUFAF4_000031" "g.97345717G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021777" "" "0000021778" "0" "55" "6" "97345726" "97345726" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:36:45" "NDUFAF4_000032" "g.97345726G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0021778" "" "0000026543" "0" "00" "6" "97345671" "97345671" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:36:41" "NDUFAF4_000042" "g.97345671C>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 = 43 "{{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}}" "0000001202" "00000953" "99" "194" "0" "194" "0" "c.194T>C" "2/3" "p.(Leu65Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000021738" "00000953" "00" "2276" "0" "2276" "0" "c.*1748T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021739" "00000953" "00" "2255" "0" "2255" "0" "c.*1727T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021740" "00000953" "00" "2199" "0" "2199" "0" "c.*1671T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021741" "00000953" "00" "2170" "0" "2170" "0" "c.*1642T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021742" "00000953" "00" "2015" "0" "2015" "0" "c.*1487A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021743" "00000953" "00" "2009" "0" "2009" "0" "c.*1481T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021744" "00000953" "00" "1975" "0" "1975" "0" "c.*1447T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021745" "00000953" "00" "1971" "0" "1971" "0" "c.*1443G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021746" "00000953" "00" "1903" "0" "1903" "0" "c.*1375G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021747" "00000953" "00" "1891" "0" "1891" "0" "c.*1363G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021748" "00000953" "00" "1890" "0" "1890" "0" "c.*1362C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021749" "00000953" "00" "1731" "0" "1731" "0" "c.*1203A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021750" "00000953" "00" "1682" "0" "1682" "0" "c.*1154A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021751" "00000953" "00" "1649" "0" "1649" "0" "c.*1121A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021752" "00000953" "00" "1590" "0" "1590" "0" "c.*1062T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021753" "00000953" "00" "1581" "0" "1581" "0" "c.*1053A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021754" "00000953" "00" "1536" "0" "1536" "0" "c.*1008T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021755" "00000953" "00" "1514" "0" "1514" "0" "c.*986A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021756" "00000953" "00" "1218" "0" "1218" "0" "c.*690G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021757" "00000953" "00" "1140" "0" "1140" "0" "c.*612A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021758" "00000953" "00" "987" "0" "987" "0" "c.*459A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021759" "00000953" "00" "915" "0" "915" "0" "c.*387C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021760" "00000953" "00" "910" "0" "910" "0" "c.*382T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021761" "00000953" "00" "878" "0" "878" "0" "c.*350A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021762" "00000953" "00" "860" "0" "860" "0" "c.*332A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021763" "00000953" "00" "851" "0" "851" "0" "c.*323A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021764" "00000953" "00" "829" "0" "829" "0" "c.*301T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021765" "00000953" "00" "822" "0" "822" "0" "c.*294T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021766" "00000953" "00" "817" "0" "817" "0" "c.*289C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021767" "00000953" "00" "491" "0" "491" "0" "c.491T>A" "" "p.(Phe164Tyr)" "r.(?)" "" "" "" "" "" "-" "0000021768" "00000953" "00" "430" "0" "430" "0" "c.430T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021769" "00000953" "00" "420" "0" "420" "0" "c.420G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021770" "00000953" "00" "241" "-9" "241" "-8" "c.241-9_241-8insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021771" "00000953" "00" "223" "0" "223" "0" "c.223C>G" "" "p.(Pro75Ala)" "r.(?)" "" "" "" "" "" "-" "0000021772" "00000953" "00" "194" "0" "194" "0" "c.194T>C" "" "p.(Leu65Pro)" "r.(?)" "" "" "" "" "" "-" "0000021773" "00000953" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021774" "00000953" "00" "-24" "0" "-24" "0" "c.-24C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021775" "00000953" "00" "-32" "0" "-32" "0" "c.-32del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021776" "00000953" "00" "-33" "0" "-33" "0" "c.-33G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021777" "00000953" "00" "-40" "0" "-40" "0" "c.-40C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000021778" "00000953" "00" "-49" "0" "-49" "0" "c.-49C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026543" "00000953" "00" "7" "0" "7" "0" "c.7G>C" "" "p.(Ala3Pro)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0