### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = NDUFAF3) # 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}}" "NDUFAF3" "NADH dehydrogenase (ubiquinone) complex I, assembly factor 3" "3" "p21.31" "unknown" "NC_000003.11" "UD_132118720162" "" "" "" "1" "1" "29918" "25915" "612911" "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 = 4 "{{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}}" "00000949" "NDUFAF3" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 4" "001" "NM_199074.1" "" "NP_951056.1" "" "" "" "-190" "707" "384" "49057908" "49060928" "00001" "2013-11-12 21:50:36" "" "" "" "3" "00000950" "NDUFAF3" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 3" "002" "NM_199073.1" "" "NP_951047.1" "" "" "" "-309" "707" "384" "49058618" "49060928" "00001" "2013-11-12 21:50:36" "" "" "" "3" "00000951" "NDUFAF3" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 1" "003" "NM_199069.1" "" "NP_951032.1" "" "" "" "-504" "878" "555" "49059074" "49060928" "00001" "2013-11-12 21:50:36" "" "" "" "3" "00000952" "NDUFAF3" "NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3, transcript variant 2" "004" "NM_199070.1" "" "NP_951033.1" "" "" "" "-238" "707" "384" "49059074" "49060928" "00001" "2013-11-12 21:50:36" "" "" "" "3" ## 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" "" "" "" "00594" "618240" "MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18; MC1DN18" "618240" "" "" "" "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}}" "NDUFAF3" "00011" "NDUFAF3" "00594" ## 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 = 26 "{{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}}" "0000000943" "0" "99" "3" "49059579" "49059579" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-30 23:04:44" "NDUFAF3_000003" "g.49059579T>C" "" "{PMID:19463981:19463981}" "" "rs121918136" "subst" "0" "; clinVar; Ensembl;" "2.650" "" "" "" "" "MSCV_0000943" "" "0000000944" "0" "00" "3" "49059895" "49059895" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:09:36" "NDUFAF3_000004" "g.49059895G>C" "" "" "" "NA" "subst" "0" ";" "3.630" "" "" "" "" "MSCV_0000944" "" "0000000945" "0" "99" "3" "49059930" "49059930" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2015-03-15 18:37:15" "NDUFAF3_000001" "g.49059930G>C" "" "{PMID:19463981:19463981}" "" "rs121918134" "subst" "0" "; clinVar; Ensembl;" "4.640" "" "" "" "" "MSCV_0000945" "" "0000000946" "0" "99" "3" "49060336" "49060336" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:20" "NDUFAF3_000002" "g.49060336G>C" "" "{PMID:19463981:19463981}" "" "rs121918135" "subst" "0" "; clinVar; Ensembl;" "3.360" "" "" "" "" "MSCV_0000946" "" "0000020345" "0" "55" "3" "49059089" "49059089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:13" "NDUFAF3_000005" "g.49059089T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020345" "" "0000020346" "0" "55" "3" "49059208" "49059208" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:17" "NDUFAF3_000006" "g.49059208A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020346" "" "0000020347" "0" "55" "3" "49059209" "49059209" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 17:31:54" "NDUFAF3_000007" "g.49059209C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020347" "" "0000020348" "0" "55" "3" "49059215" "49059215" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:25" "NDUFAF3_000008" "g.49059215C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020348" "" "0000020349" "0" "55" "3" "49059329" "49059329" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:29" "NDUFAF3_000009" "g.49059329C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020349" "" "0000020350" "0" "55" "3" "49059337" "49059337" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:33" "NDUFAF3_000010" "g.49059337C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020350" "" "0000020351" "0" "55" "3" "49059451" "49059451" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:36:47" "NDUFAF3_000011" "g.49059451G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020351" "" "0000020352" "0" "55" "3" "49059452" "49059452" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:39" "NDUFAF3_000012" "g.49059452G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020352" "" "0000020353" "0" "55" "3" "49059460" "49059460" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:12:12" "NDUFAF3_000013" "g.49059460G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020353" "" "0000020354" "0" "99" "3" "49059579" "49059579" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:43:24" "NDUFAF3_000003" "g.49059579T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000943" "" "0000020355" "0" "55" "3" "49059615" "49059615" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:51" "NDUFAF3_000014" "g.49059615C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020355" "" "0000020356" "0" "77" "3" "49059881" "49059882" "ins" "35" "0.000159923" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:56" "NDUFAF3_000015" "g.49059881_49059882insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020356" "" "0000020357" "0" "99" "3" "49059930" "49059930" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:30:59" "NDUFAF3_000001" "g.49059930G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000945" "" "0000020358" "0" "55" "3" "49060176" "49060176" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-02-26 19:51:42" "NDUFAF3_000016" "g.49060176C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020358" "" "0000020359" "0" "55" "3" "49060297" "49060297" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:39:30" "NDUFAF3_000017" "g.49060297A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020359" "" "0000020360" "0" "99" "3" "49060336" "49060336" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:31:10" "NDUFAF3_000002" "g.49060336G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000946" "" "0000020361" "0" "55" "3" "49060357" "49060357" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:31:14" "NDUFAF3_000018" "g.49060357A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020361" "" "0000020362" "0" "55" "3" "49060418" "49060418" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:31:17" "NDUFAF3_000019" "g.49060418C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020362" "" "0000020363" "0" "55" "3" "49060601" "49060601" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:29:04" "NDUFAF3_000020" "g.49060601A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020363" "" "0000020364" "0" "55" "3" "49060774" "49060774" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 14:42:57" "NDUFAF3_000021" "g.49060774G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020364" "" "0000020365" "0" "55" "3" "49060799" "49060799" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:31:40" "NDUFAF3_000022" "g.49060799G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020365" "" "0000026066" "0" "00" "3" "49060600" "49060600" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:58:33" "NDUFAF3_000023" "g.49060600C>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 = 104 "{{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}}" "0000000943" "00000949" "99" "-94" "-200" "-94" "-200" "c.-94-200T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000943" "00000950" "99" "-94" "-200" "-94" "-200" "c.-94-200T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000943" "00000951" "99" "2" "0" "2" "0" "c.2T>C" "1/5" "p.(=)" "r.(=)" "benign(0.15)" "" "initiator_codon_variant" "" "" "deleterious(0)" "0000000943" "00000952" "99" "-94" "-200" "-94" "-200" "c.-94-200T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000944" "00000949" "00" "23" "0" "23" "0" "c.23G>C" "2/5" "p.(Ser8Thr)" "r.(?)" "benign(0.062)" "" "missense_variant" "" "" "tolerated(0.65)" "0000000944" "00000950" "00" "23" "0" "23" "0" "c.23G>C" "2/5" "p.(Ser8Thr)" "r.(?)" "benign(0.062)" "" "missense_variant" "" "" "tolerated(0.65)" "0000000944" "00000951" "00" "194" "0" "194" "0" "c.194G>C" "2/5" "p.(=)" "r.(=)" "benign(0.062)" "" "missense_variant" "" "" "tolerated(0.56)" "0000000944" "00000952" "00" "23" "0" "23" "0" "c.23G>C" "2/5" "p.(Ser8Thr)" "r.(?)" "benign(0.062)" "" "missense_variant" "" "" "tolerated(0.65)" "0000000945" "00000949" "99" "58" "0" "58" "0" "c.58G>C" "2/5" "p.(Gly20Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000945" "00000950" "99" "58" "0" "58" "0" "c.58G>C" "2/5" "p.(Gly20Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000945" "00000951" "99" "229" "0" "229" "0" "c.229G>C" "2/5" "p.(=)" "r.(=)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000945" "00000952" "99" "58" "0" "58" "0" "c.58G>C" "2/5" "p.(Gly20Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000946" "00000949" "99" "194" "0" "194" "0" "c.194G>C" "4/5" "p.(Arg65Pro)" "r.(?)" "probably_damaging(0.948)" "" "missense_variant" "" "" "tolerated(0.17)" "0000000946" "00000950" "99" "194" "0" "194" "0" "c.194G>C" "4/5" "p.(Arg65Pro)" "r.(?)" "probably_damaging(0.948)" "" "missense_variant" "" "" "tolerated(0.17)" "0000000946" "00000951" "99" "365" "0" "365" "0" "c.365G>C" "4/5" "p.(=)" "r.(=)" "probably_damaging(0.948)" "" "missense_variant" "" "" "tolerated(0.11)" "0000000946" "00000952" "99" "194" "0" "194" "0" "c.194G>C" "4/5" "p.(Arg65Pro)" "r.(?)" 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"r.?" "" "" "" "" "" "-" "0000020354" "00000952" "00" "-94" "-200" "-94" "-200" "c.-94-200T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020355" "00000949" "00" "-94" "-164" "-94" "-164" "c.-94-164C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020355" "00000950" "00" "-94" "-164" "-94" "-164" "c.-94-164C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020355" "00000951" "00" "38" "0" "38" "0" "c.38C>T" "" "p.(Ala13Val)" "r.(?)" "" "" "" "" "" "-" "0000020355" "00000952" "00" "-94" "-164" "-94" "-164" "c.-94-164C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020356" "00000949" "00" "9" "0" "10" "0" "c.9_10insT" "" "p.(Asp4*)" "r.(?)" "" "" "" "" "" "-" "0000020356" "00000950" "00" "9" "0" "10" "0" "c.9_10insT" "" "p.(Asp4*)" "r.(?)" "" "" "" "" "" "-" "0000020356" "00000951" "00" "180" "0" "181" "0" "c.180_181insT" "" "p.(Asp61*)" "r.(?)" "" "" "" "" "" "-" "0000020356" "00000952" "00" "9" "0" "10" "0" "c.9_10insT" "" "p.(Asp4*)" "r.(?)" "" "" "" "" "" "-" "0000020357" "00000949" "00" "58" "0" "58" "0" "c.58G>C" "" "p.(Gly20Arg)" "r.(?)" "" "" "" "" "" "-" "0000020357" "00000950" "00" "58" "0" "58" "0" "c.58G>C" "" "p.(Gly20Arg)" "r.(?)" "" "" "" "" "" "-" "0000020357" "00000951" "00" "229" "0" "229" "0" "c.229G>C" "" "p.(Gly77Arg)" "r.(?)" "" "" "" "" "" "-" "0000020357" "00000952" "00" "58" "0" "58" "0" "c.58G>C" "" "p.(Gly20Arg)" "r.(?)" "" "" "" "" "" "-" "0000020358" "00000949" "00" "141" "0" "141" "0" "c.141C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020358" "00000950" "00" "141" "0" "141" "0" "c.141C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020358" "00000951" "00" "312" "0" "312" "0" "c.312C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020358" "00000952" "00" "141" "0" "141" "0" "c.141C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020359" "00000949" "00" "167" "-12" "167" "-12" "c.167-12A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020359" "00000950" "00" "167" "-12" "167" "-12" "c.167-12A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020359" "00000951" "00" "338" "-12" "338" "-12" "c.338-12A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020359" "00000952" "00" "167" "-12" "167" "-12" "c.167-12A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020360" "00000949" "00" "194" "0" "194" "0" "c.194G>C" "" "p.(Arg65Pro)" "r.(?)" "" "" "" "" "" "-" "0000020360" "00000950" "00" "194" "0" "194" "0" "c.194G>C" "" "p.(Arg65Pro)" "r.(?)" "" "" "" "" "" "-" "0000020360" "00000951" "00" "365" "0" "365" "0" "c.365G>C" "" "p.(Arg122Pro)" "r.(?)" "" "" "" "" "" "-" "0000020360" "00000952" "00" "194" "0" "194" "0" "c.194G>C" "" "p.(Arg65Pro)" "r.(?)" "" "" "" "" "" "-" "0000020361" "00000949" "00" "215" "0" "215" "0" "c.215A>G" "" "p.(Gln72Arg)" "r.(?)" "" "" "" "" "" "-" "0000020361" "00000950" "00" "215" "0" "215" "0" "c.215A>G" "" "p.(Gln72Arg)" "r.(?)" "" "" "" "" "" "-" "0000020361" "00000951" "00" "386" "0" "386" "0" "c.386A>G" "" "p.(Gln129Arg)" "r.(?)" "" "" "" "" "" "-" "0000020361" "00000952" "00" "215" "0" "215" "0" "c.215A>G" "" "p.(Gln72Arg)" "r.(?)" "" "" "" "" "" "-" "0000020362" "00000949" "00" "267" "9" "267" "9" "c.267+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020362" "00000950" "00" "267" "9" "267" "9" "c.267+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020362" "00000951" "00" "438" "9" "438" "9" "c.438+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020362" "00000952" "00" "267" "9" "267" "9" "c.267+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020363" "00000949" "00" "380" "0" "380" "0" "c.380A>G" "" "p.(Gln127Arg)" "r.(?)" "" "" "" "" "" "-" "0000020363" "00000950" "00" "380" "0" "380" "0" "c.380A>G" "" "p.(Gln127Arg)" "r.(?)" "" "" "" "" "" "-" "0000020363" "00000951" "00" "551" "0" "551" "0" "c.551A>G" "" "p.(Gln184Arg)" "r.(?)" "" "" "" "" "" "-" "0000020363" "00000952" "00" "380" "0" "380" "0" "c.380A>G" "" "p.(Gln127Arg)" "r.(?)" "" "" "" "" "" "-" "0000020364" "00000949" "00" "553" "0" "553" "0" "c.*169G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020364" "00000950" "00" "553" "0" "553" "0" "c.*169G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020364" "00000951" "00" "724" "0" "724" "0" "c.*169G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020364" "00000952" "00" "553" "0" "553" "0" "c.*169G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020365" "00000949" "00" "578" "0" "578" "0" "c.*194G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020365" "00000950" "00" "578" "0" "578" "0" "c.*194G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020365" "00000951" "00" "749" "0" "749" "0" "c.*194G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020365" "00000952" "00" "578" "0" "578" "0" "c.*194G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026066" "00000949" "00" "379" "0" "379" "0" "c.379C>T" "" "p.(Gln127*)" "r.(?)" "" "" "" "" "" "-" "0000026066" "00000950" "00" "379" "0" "379" "0" "c.379C>T" "" "p.(Gln127*)" "r.(?)" "" "" "" "" "" "-" "0000026066" "00000951" "00" "550" "0" "550" "0" "c.550C>T" "" "p.(Gln184*)" "r.(?)" "" "" "" "" "" "-" "0000026066" "00000952" "00" "379" "0" "379" "0" "c.379C>T" "" "p.(Gln127*)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0