### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUCLG1) # 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}}" "SUCLG1" "succinate-CoA ligase, alpha subunit" "2" "p11.3" "unknown" "NC_000002.11" "UD_132118378808" "" "" "" "1" "1" "11449" "8802" "611224" "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}}" "00000316" "SUCLG1" "succinate-CoA ligase, alpha subunit" "001" "NM_003849.3" "" "NP_003840.2" "" "" "" "-193" "1264" "1041" "84686586" "84650647" "00001" "2013-11-07 14:00:16" "" "" "" "2" ## 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}}" "00038" "245400" "Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria), 245400 (3)" "245400" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SUCLG1" "00038" ## 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 = 47 "{{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}}" "0000000838" "0" "99" "2" "84668393" "84668393" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 02:58:15" "SUCLG1_000001" "g.84668393G>C" "" "{PMID:20693550:20693550}" "" "rs267607099" "subst" "0" "; clinVar; Ensembl;" "5.590" "" "" "" "" "MSCV_0000838" "" "0000000839" "0" "99" "2" "84668454" "84668454" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:55:22" "SUCLG1_000002" "g.84668454G>A" "" "{PMID:20693550:20693550}" "" "rs267607098" "subst" "0" "; clinVar; Ensembl;" "5.590" "" "" "" "" "MSCV_0000839" "" "0000000840" "0" "99" "2" "84670472" "84670472" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:07:38" "SUCLG1_000003" "g.84670472C>G" "" "{PMID:19526370:19526370}" "" "rs267607097" "subst" "0" "; clinVar; Ensembl;" "5.900" "" "" "" "" "MSCV_0000840" "" "0000019256" "0" "55" "2" "84650652" "84650652" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:08:06" "SUCLG1_000038" "g.84650652T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019256" "" "0000019257" "0" "33" "2" "84650663" "84650663" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:07:58" "SUCLG1_000036" "g.84650663T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019257" "" "0000019258" "0" "11" "2" "84650707" "84650707" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:27:37" "SUCLG1_000037" "g.84650707A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019258" "" "0000019259" "0" "33" "2" "84650815" "84650815" "subst" "51" "0.00985545" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 15:31:03" "SUCLG1_000007" "g.84650815C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019259" "" "0000019260" "0" "55" "2" "84650832" "84650832" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:33" "SUCLG1_000034" "g.84650832G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019260" "" "0000019261" "0" "00" "2" "84650857" "84650857" "del" "35" "0.0291534" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:59:05" "SUCLG1_000035" "g.84650857del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019261" "" "0000019262" "0" "55" "2" "84650883" "84650883" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:16" "SUCLG1_000005" "g.84650883C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019262" "" "0000019263" "0" "55" "2" "84652594" "84652594" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:01:27" "SUCLG1_000026" "g.84652594C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019263" "" "0000019264" "0" "77" "2" "84652653" "84652653" "subst" "35" "0.00215285" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:07:45" "SUCLG1_000027" "g.84652653G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019264" "" "0000019265" "0" "77" "2" "84660565" "84660565" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:54:02" "SUCLG1_000028" "g.84660565C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019265" "" "0000019266" "0" "99" "2" "84668393" "84668393" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:13" "SUCLG1_000001" "g.84668393G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000838" "" "0000019267" "0" "99" "2" "84668395" "84668395" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:08:44" "SUCLG1_000029" "g.84668395del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019267" "" "0000019268" "0" "99" "2" "84668454" "84668454" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:10:14" "SUCLG1_000002" "g.84668454G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000839" "" "0000019269" "0" "55" "2" "84668507" "84668507" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:58:57" "SUCLG1_000030" "g.84668507G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019269" "" "0000019270" "0" "55" "2" "84668550" "84668550" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:08:43" "SUCLG1_000031" "g.84668550T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019270" "" "0000019271" "0" "77" "2" "84668557" "84668557" "subst" "51" "0.000615101" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 15:31:03" "SUCLG1_000032" "g.84668557A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019271" "" "0000019272" "0" "55" "2" "84668561" "84668561" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:00:08" "SUCLG1_000033" "g.84668561G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019272" "" "0000019273" "0" "99" "2" "84670472" "84670472" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 20:56:15" "SUCLG1_000003" "g.84670472C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000840" "" "0000019274" "0" "55" "2" "84670484" "84670484" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:09:51" "SUCLG1_000020" "g.84670484T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019274" "" "0000019275" "0" "55" "2" "84670490" "84670490" "subst" "51" "0.00107643" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 20:56:15" "SUCLG1_000021" "g.84670490C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019275" "" "0000019276" "0" "77" "2" "84670528" "84670528" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:01:57" "SUCLG1_000022" "g.84670528A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019276" "" "0000019277" "0" "33" "2" "84676764" "84676764" "subst" "35" "0.0113042" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:02:33" "SUCLG1_000023" "g.84676764T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019277" "" "0000019278" "0" "55" "2" "84676765" "84676765" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-09 00:57:37" "SUCLG1_000024" "g.84676765A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019278" "" "0000019279" "0" "55" "2" "84676864" "84676864" "subst" "35" "0.0000768994" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:00:24" "SUCLG1_000025" "g.84676864C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019279" "" "0000019280" "0" "55" "2" "84676873" "84676873" "subst" "35" "0.000384497" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:54:29" "SUCLG1_000008" "g.84676873G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019280" "" "0000019281" "0" "00" "2" "84676884" "84676886" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:09:33" "SUCLG1_000009" "g.84676884_84676886del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019281" "" "0000019282" "0" "11" "2" "84676887" "84676889" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:08:23" "SUCLG1_000010" "g.84676887_84676889del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019282" "" "0000019283" "0" "55" "2" "84676890" "84676891" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:02:21" "SUCLG1_000011" "g.84676890_84676891insGGTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019283" "" "0000019284" "0" "99" "2" "84686294" "84686294" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 18:19:27" "SUCLG1_000012" "g.84686294C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019284" "" "0000019285" "0" "55" "2" "84686383" "84686383" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-26 18:19:27" "SUCLG1_000013" "g.84686383G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019285" "" "0000019286" "0" "77" "2" "84686432" "84686432" "subst" "35" "0.000629723" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:08" "SUCLG1_000004" "g.84686432G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019286" "" "0000019287" "0" "55" "2" "84686432" "84686432" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:09:43" "SUCLG1_000014" "g.84686432G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019287" "" "0000019288" "0" "55" "2" "84686464" "84686464" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:00:49" "SUCLG1_000015" "g.84686464C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019288" "" "0000019289" "0" "55" "2" "84686500" "84686500" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:54:43" "SUCLG1_000016" "g.84686500T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019289" "" "0000019290" "0" "33" "2" "84686526" "84686526" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:56:09" "SUCLG1_000017" "g.84686526G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019290" "" "0000019291" "0" "55" "2" "84686543" "84686543" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:18" "SUCLG1_000018" "g.84686543A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019291" "" "0000019292" "0" "55" "2" "84686579" "84686579" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 19:58:23" "SUCLG1_000019" "g.84686579C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019292" "" "0000025765" "0" "00" "2" "84658631" "84658631" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:43:04" "SUCLG1_000042" "g.84658631C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025766" "0" "00" "2" "84658736" "84658736" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:43:10" "SUCLG1_000043" "g.84658736C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025767" "0" "00" "2" "84660514" "84660514" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:43:17" "SUCLG1_000044" "g.84660514T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025768" "0" "00" "2" "84668564" "84668564" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:43:42" "SUCLG1_000045" "g.84668564G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025769" "0" "00" "2" "84676821" "84676822" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:21:52" "SUCLG1_000041" "g.84676821_84676822del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025770" "0" "00" "2" "84686353" "84686353" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-07-28 13:15:37" "SUCLG1_000039" "g.84686353A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025771" "0" "00" "2" "84686354" "84686354" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 17:59:04" "SUCLG1_000040" "g.84686354T>A" "" "" "" "" "" "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 = 47 "{{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}}" "0000000838" "00000316" "99" "509" "0" "509" "0" "c.509C>G" "4/9" "p.(Pro170Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000839" "00000316" "99" "448" "0" "448" "0" "c.448C>T" "4/9" "p.(Gln150*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000840" "00000316" "99" "254" "0" "254" "0" "c.254G>C" "3/9" "p.(Gly85Ala)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000019256" "00000316" "00" "1259" "0" "1259" "0" "c.*218A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019257" "00000316" "00" "1248" "0" "1248" "0" "c.*207A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019258" "00000316" "00" "1204" "0" "1204" "0" "c.*163T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019259" "00000316" "00" "1096" "0" "1096" "0" "c.*55G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019260" "00000316" "00" "1079" "0" "1079" "0" "c.*38C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019261" "00000316" "00" "1054" "0" "1054" "0" "c.*13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019262" "00000316" "00" "1028" "0" "1028" "0" "c.1028G>C" "" "p.(Arg343Thr)" "r.(?)" "" "" "" "" "" "-" "0000019263" "00000316" "00" "959" "0" "959" "0" "c.959G>A" "" "p.(Ser320Asn)" "r.(?)" "" "" "" "" "" "-" "0000019264" "00000316" "00" "900" "0" "900" "0" "c.900C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019265" "00000316" "00" "590" "-6" "590" "-6" "c.590-6G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019266" "00000316" "00" "509" "0" "509" "0" "c.509C>G" "" "p.(Pro170Arg)" "r.(?)" "" "" "" "" "" "-" "0000019267" "00000316" "00" "507" "0" "507" "0" "c.507del" "" "p.(Asn171Thrfs*35)" "r.(?)" "" "" "" "" "" "-" "0000019268" "00000316" "00" "448" "0" "448" "0" "c.448C>T" "" "p.(Gln150*)" "r.(?)" "" "" "" "" "" "-" "0000019269" "00000316" "00" "395" "0" "395" "0" "c.395C>G" "" "p.(Ala132Gly)" "r.(?)" "" "" "" "" "" "-" "0000019270" "00000316" "00" "352" "0" "352" "0" "c.352A>G" "" "p.(Ile118Val)" "r.(?)" "" "" "" "" "" "-" "0000019271" "00000316" "00" "345" "0" "345" "0" "c.345T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019272" "00000316" "00" "341" "0" "341" "0" "c.341C>T" "" "p.(Thr114Met)" "r.(?)" "" "" "" "" "" "-" "0000019273" "00000316" "00" "254" "0" "254" "0" "c.254G>C" "" "p.(Gly85Ala)" "r.(?)" "" "" "" "" "" "-" "0000019274" "00000316" "00" "242" "0" "242" "0" "c.242A>G" "" "p.(Lys81Arg)" "r.(?)" "" "" "" "" "" "-" "0000019275" "00000316" "00" "236" "0" "236" "0" "c.236G>A" "" "p.(Gly79Asp)" "r.(?)" "" "" "" "" "" "-" "0000019276" "00000316" "00" "202" "-4" "202" "-4" "c.202-4T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019277" "00000316" "00" "201" "9" "201" "9" "c.201+9A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019278" "00000316" "00" "201" "8" "201" "8" "c.201+8T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019279" "00000316" "00" "110" "0" "110" "0" "c.110G>C" "" "p.(Gly37Ala)" "r.(?)" "" "" "" "" "" "-" "0000019280" "00000316" "00" "101" "0" "101" "0" "c.101C>T" "" "p.(Pro34Leu)" "r.(?)" "" "" "" "" "" "-" "0000019281" "00000316" "00" "98" "-10" "98" "-8" "c.98-10_98-8del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019282" "00000316" "00" "98" "-13" "98" "-11" "c.98-13_98-11del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019283" "00000316" "00" "98" "-15" "98" "-14" "c.98-15_98-14insAACC" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019284" "00000316" "00" "97" "3" "97" "3" "c.97+3G>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019285" "00000316" "00" "11" "0" "11" "0" "c.11C>T" "" "p.(Thr4Ile)" "r.(?)" "" "" "" "" "" "-" "0000019286" "00000316" "00" "-39" "0" "-39" "0" "c.-39C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019287" "00000316" "00" "-39" "0" "-39" "0" "c.-39C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019288" "00000316" "00" "-71" "0" "-71" "0" "c.-71G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019289" "00000316" "00" "-107" "0" "-107" "0" "c.-107A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019290" "00000316" "00" "-133" "0" "-133" "0" "c.-133C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019291" "00000316" "00" "-150" "0" "-150" "0" "c.-150T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019292" "00000316" "00" "-186" "0" "-186" "0" "c.-186G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025765" "00000316" "00" "825" "1" "825" "1" "c.825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000025766" "00000316" "00" "721" "0" "721" "0" "c.721G>A" "" "p.(Glu241Lys)" "r.(?)" "" "" "" "" "" "-" "0000025767" "00000316" "00" "635" "0" "635" "0" "c.635A>G" "" "p.(Gln212Arg)" "r.(?)" "" "" "" "" "" "-" "0000025768" "00000316" "00" "338" "0" "338" "0" "c.338C>G" "" "p.(Ala113Gly)" "r.(?)" "" "" "" "" "" "-" "0000025769" "00000316" "00" "152" "0" "153" "0" "c.152_153del" "" "p.(Tyr51Cysfs*2)" "r.(?)" "" "" "" "" "" "-" "0000025770" "00000316" "00" "41" "0" "41" "0" "c.41T>C" "" "p.(Met14Thr)" "r.(?)" "" "" "" "" "" "-" "0000025771" "00000316" "00" "40" "0" "40" "0" "c.40A>T" "" "p.(Met14Leu)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0