### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TUFM) # 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}}" "TUFM" "Tu translation elongation factor, mitochondrial" "16" "p11.2" "unknown" "NC_000016.9" "UD_132085437538" "" "" "" "1" "1" "12420" "7284" "602389" "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 = 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}}" "00000353" "TUFM" "Tu translation elongation factor, mitochondrial" "001" "NM_003321.4" "" "NP_003312.3" "" "" "" "-139" "1932" "1368" "28857729" "28853732" "00001" "2013-11-07 14:01:44" "" "" "" "16" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00098" "COXPD4" "Combined oxidative phosphorylation deficiency 4, 610678 (3)" "610678" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TUFM" "00098" ## 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 = 40 "{{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}}" "0000000625" "0" "99" "16" "28855329" "28855329" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-01 02:35:57" "TUFM_000001" "g.28855329C>T" "" "{PMID:17160893:17160893}" "" "rs121434452" "subst" "0" "; clinVar; Ensembl;" "6.170" "" "" "" "" "MSCV_0000625" "" "0000017804" "0" "99" "16" "28855329" "28855329" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-01 01:58:04" "TUFM_000001" "g.28855329C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000625" "" "0000017805" "0" "77" "16" "28855356" "28855356" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 17:00:50" "TUFM_000002" "g.28855356C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017805" "" "0000017806" "0" "99" "16" "28856351" "28856351" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-01 01:20:11" "TUFM_000003" "g.28856351A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017806" "" "0000017807" "0" "99" "16" "28857318" "28857318" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-01 00:04:25" "TUFM_000004" "g.28857318del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017807" "" "0000025228" "0" "00" "16" "28853735" "28853735" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:43:37" "TUFM_000037" "g.28853735T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025229" "0" "00" "16" "28853779" "28853779" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-11 03:25:57" "TUFM_000038" "g.28853779C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025230" "0" "00" "16" "28853851" "28853851" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-14 14:55:16" "TUFM_000039" "g.28853851C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025231" "0" "00" "16" "28853898" "28853898" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 21:14:11" "TUFM_000036" "g.28853898C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025232" "0" "00" "16" "28853926" "28853926" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:12" "TUFM_000027" "g.28853926A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025233" "0" "00" "16" "28853947" "28853947" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:17" "TUFM_000028" "g.28853947C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025234" "0" "00" "16" "28853996" "28853996" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:22" "TUFM_000029" "g.28853996A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025235" "0" "00" "16" "28854147" "28854147" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-08 17:00:50" "TUFM_000030" "g.28854147C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025236" "0" "00" "16" "28854186" "28854186" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:31" "TUFM_000031" "g.28854186T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025237" "0" "00" "16" "28854259" "28854259" "subst" "51" "0.0000769586" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-08 17:00:50" "TUFM_000032" "g.28854259C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025238" "0" "00" "16" "28854272" "28854272" "subst" "35" "0.0275512" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:41" "TUFM_000033" "g.28854272G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025239" "0" "00" "16" "28854372" "28854372" "subst" "35" "0.00207788" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:46" "TUFM_000034" "g.28854372T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025240" "0" "00" "16" "28854472" "28854472" "subst" "35" "0.000384793" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 19:46:51" "TUFM_000035" "g.28854472A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025241" "0" "00" "16" "28855370" "28855370" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-01-28 08:28:34" "TUFM_000019" "g.28855370G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025242" "0" "00" "16" "28855431" "28855431" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:48:07" "TUFM_000020" "g.28855431G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025243" "0" "00" "16" "28855579" "28855579" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:48:35" "TUFM_000021" "g.28855579A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025244" "0" "00" "16" "28855727" "28855727" "subst" "51" "0.344621" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-08 17:00:50" "TUFM_000022" "g.28855727A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025245" "0" "00" "16" "28855797" "28855797" "subst" "35" "0.000384793" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:48:46" "TUFM_000023" "g.28855797C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025246" "0" "00" "16" "28855798" "28855798" "subst" "35" "0.000153917" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:48:52" "TUFM_000024" "g.28855798G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025247" "0" "00" "16" "28856011" "28856011" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-27 06:20:34" "TUFM_000025" "g.28856011G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025248" "0" "00" "16" "28856081" "28856081" "subst" "35" "0.0013083" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 16:49:03" "TUFM_000026" "g.28856081C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025249" "0" "00" "16" "28856135" "28856135" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:38:35" "TUFM_000005" "g.28856135G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025250" "0" "00" "16" "28856196" "28856196" "subst" "35" "0.00161613" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:20" "TUFM_000006" "g.28856196G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025251" "0" "00" "16" "28856257" "28856257" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:46" "TUFM_000007" "g.28856257C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025252" "0" "00" "16" "28856364" "28856364" "subst" "35" "0.000230876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:39:51" "TUFM_000008" "g.28856364C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025253" "0" "00" "16" "28856814" "28856814" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-27 10:45:40" "TUFM_000009" "g.28856814A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025254" "0" "00" "16" "28857282" "28857282" "subst" "35" "0.029783" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:00" "TUFM_000010" "g.28857282G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025255" "0" "00" "16" "28857590" "28857590" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:05" "TUFM_000011" "g.28857590T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025256" "0" "00" "16" "28857627" "28857627" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-27 06:20:34" "TUFM_000012" "g.28857627G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025257" "0" "00" "16" "28857634" "28857634" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:15" "TUFM_000013" "g.28857634C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025258" "0" "00" "16" "28857639" "28857641" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:19" "TUFM_000014" "g.28857639_28857641del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025259" "0" "00" "16" "28857645" "28857645" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:24" "TUFM_000015" "g.28857645A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025260" "0" "00" "16" "28857671" "28857671" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:29" "TUFM_000016" "g.28857671C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025261" "0" "00" "16" "28857718" "28857718" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:34" "TUFM_000017" "g.28857718C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025262" "0" "00" "16" "28857722" "28857722" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:40:39" "TUFM_000018" "g.28857722C>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 = 40 "{{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}}" "0000000625" "00000353" "99" "1016" "0" "1016" "0" "c.1016G>A" "8/10" "p.(Arg339Gln)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000017804" "00000353" "00" "1016" "0" "1016" "0" "c.1016G>A" "" "p.(Arg339Gln)" "r.(?)" "" "" "" "" "" "-" "0000017805" "00000353" "00" "989" "0" "989" "0" "c.989G>C" "" "p.(Arg330Pro)" "r.(?)" "" "" "" "" "" "-" "0000017806" "00000353" "00" "440" "0" "440" "0" "c.440T>A" "" "p.(Leu147His)" "r.(?)" "" "" "" "" "" "-" "0000017807" "00000353" "00" "162" "0" "162" "0" "c.162del" "" "p.(Tyr54*)" "r.(?)" "" "" "" "" "" "-" "0000025228" "00000353" "00" "1929" "0" "1929" "0" "c.*561A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025229" "00000353" "00" "1885" "0" "1885" "0" "c.*517G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025230" "00000353" "00" "1813" "0" "1813" "0" "c.*445G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025231" "00000353" "00" "1766" "0" "1766" "0" "c.*398G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025232" "00000353" "00" "1738" "0" "1738" "0" "c.*370T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025233" "00000353" "00" "1717" "0" "1717" "0" "c.*349G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025234" "00000353" "00" "1668" "0" "1668" "0" "c.*300T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025235" "00000353" "00" "1517" "0" "1517" "0" "c.*149G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025236" "00000353" "00" "1478" "0" "1478" "0" "c.*110A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025237" "00000353" "00" "1405" "0" "1405" "0" "c.*37G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025238" "00000353" "00" "1392" "0" "1392" "0" "c.*24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025239" "00000353" "00" "1292" "0" "1292" "0" "c.1292A>G" "" "p.(Asn431Ser)" "r.(?)" "" "" "" "" "" "-" "0000025240" "00000353" "00" "1195" "-3" "1195" "-3" "c.1195-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025241" "00000353" "00" "975" "0" "975" "0" "c.975C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025242" "00000353" "00" "923" "-9" "923" "-9" "c.923-9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025243" "00000353" "00" "894" "0" "894" "0" "c.894T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025244" "00000353" "00" "817" "13" "817" "13" "c.817+13T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025245" "00000353" "00" "760" "0" "760" "0" "c.760G>A" "" "p.(Ala254Thr)" "r.(?)" "" "" "" "" "" "-" "0000025246" "00000353" "00" "759" "0" "759" "0" "c.759C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025247" "00000353" "00" "684" "8" "684" "8" "c.684+8C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025248" "00000353" "00" "622" "0" "622" "0" "c.622G>A" "" "p.(Glu208Lys)" "r.(?)" "" "" "" "" "" "-" "0000025249" "00000353" "00" "568" "0" "568" "0" "c.568C>T" "" "p.(Gln190*)" "r.(?)" "" "" "" "" "" "-" "0000025250" "00000353" "00" "520" "-13" "520" "-13" "c.520-13C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025251" "00000353" "00" "519" "15" "519" "15" "c.519+15G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025252" "00000353" "00" "427" "0" "427" "0" "c.427G>A" "" "p.(Gly143Ser)" "r.(?)" "" "" "" "" "" "-" "0000025253" "00000353" "00" "248" "-13" "248" "-13" "c.248-13T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025254" "00000353" "00" "198" "0" "198" "0" "c.198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025255" "00000353" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000025256" "00000353" "00" "-37" "0" "-37" "0" "c.-37C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025257" "00000353" "00" "-44" "0" "-44" "0" "c.-44G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025258" "00000353" "00" "-51" "0" "-49" "0" "c.-51_-49del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025259" "00000353" "00" "-55" "0" "-55" "0" "c.-55T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025260" "00000353" "00" "-81" "0" "-81" "0" "c.-81G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025261" "00000353" "00" "-128" "0" "-128" "0" "c.-128G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025262" "00000353" "00" "-132" "0" "-132" "0" "c.-132G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0