### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDSS2) # 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}}" "PDSS2" "prenyl (decaprenyl) diphosphate synthase, subunit 2" "6" "q21" "unknown" "NC_000006.11" "UD_132118538465" "" "" "" "1" "1" "23041" "57107" "610564" "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}}" "00000263" "PDSS2" "prenyl (decaprenyl) diphosphate synthase, subunit 2" "001" "NM_020381.3" "" "NP_065114.3" "" "" "" "-290" "3262" "1200" "107780779" "107473761" "00001" "2013-11-07 13:58:05" "" "" "" "6" ## 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}}" "00447" "COQ10D3" "COENZYME Q10 DEFICIENCY, PRIMARY, 3; COQ10D3" "614652" "" "" "" "00001" "2014-04-10 15:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDSS2" "00447" ## 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 = 42 "{{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}}" "0000001208" "0" "99" "6" "107475878" "107475878" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 00:50:26" "PDSS2_000001" "g.107475878G>A" "" "{PMID:17186472:17186472}" "" "rs118203956" "subst" "0" "; clinvar; ensembl;" "5.530" "" "" "" "" "MSCV_0001208" "" "0000001209" "0" "99" "6" "107531687" "107531687" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-11-04 22:42:53" "PDSS2_000002" "g.107531687G>A" "" "{PMID:17186472:17186472};{PMID:20495179:20495179}" "" "rs118203955" "subst" "0" "; clinvar; ensembl;" "5.950" "" "" "" "" "MSCV_0001209" "" "0000022160" "0" "77" "6" "107475832" "107475833" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 00:50:19" "PDSS2_000003" "g.107475832_107475833del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022160" "" "0000022161" "0" "99" "6" "107475878" "107475878" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 00:50:23" "PDSS2_000001" "g.107475878G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001208" "" "0000022162" "0" "99" "6" "107531687" "107531687" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-11-05 01:15:06" "PDSS2_000002" "g.107531687G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001209" "" "0000026548" "0" "00" "6" "107473790" "107473791" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:00:07" "PDSS2_000037" "g.107473790_107473791insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026549" "0" "00" "6" "107473796" "107473796" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:56:59" "PDSS2_000034" "g.107473796T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026550" "0" "00" "6" "107473936" "107473937" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-05 01:53:23" "PDSS2_000035" "g.107473936_107473937insTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026551" "0" "00" "6" "107473937" "107473937" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:57:15" "PDSS2_000036" "g.107473937C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026552" "0" "00" "6" "107474041" "107474041" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 22:54:08" "PDSS2_000033" "g.107474041T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026553" "0" "00" "6" "107474137" "107474137" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:28:51" "PDSS2_000009" "g.107474137C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026554" "0" "00" "6" "107474170" "107474170" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-05 02:30:11" "PDSS2_000010" "g.107474170A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026555" "0" "00" "6" "107474213" "107474213" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:29:05" "PDSS2_000011" "g.107474213A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026556" "0" "00" "6" "107474237" "107474237" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:29:13" "PDSS2_000012" "g.107474237A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026557" "0" "00" "6" "107474390" "107474390" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-01 02:56:49" "PDSS2_000013" "g.107474390T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026558" "0" "00" "6" "107474488" "107474488" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:29:26" "PDSS2_000014" "g.107474488C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026559" "0" "00" "6" "107474604" "107474604" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:29:33" "PDSS2_000015" "g.107474604T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026560" "0" "00" "6" "107474854" "107474854" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:29:41" "PDSS2_000016" "g.107474854A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026561" "0" "00" "6" "107474988" "107474988" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-04 23:20:46" "PDSS2_000017" "g.107474988A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026562" "0" "00" "6" "107474994" "107474994" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:29:55" "PDSS2_000018" "g.107474994A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026563" "0" "00" "6" "107475049" "107475049" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:30:03" "PDSS2_000019" "g.107475049G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026564" "0" "00" "6" "107475054" "107475054" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-11 17:00:40" "PDSS2_000020" "g.107475054C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026565" "0" "00" "6" "107475097" "107475097" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:30:17" "PDSS2_000021" "g.107475097T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026566" "0" "00" "6" "107475168" "107475168" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:30:24" "PDSS2_000022" "g.107475168A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026567" "0" "00" "6" "107475278" "107475279" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:30:31" "PDSS2_000023" "g.107475278_107475279insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026568" "0" "00" "6" "107475438" "107475438" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-09-26 21:27:53" "PDSS2_000024" "g.107475438C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026569" "0" "00" "6" "107475512" "107475512" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-05 00:37:03" "PDSS2_000025" "g.107475512C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026570" "0" "00" "6" "107475564" "107475564" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:30:54" "PDSS2_000026" "g.107475564C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026571" "0" "00" "6" "107475683" "107475683" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:31:01" "PDSS2_000027" "g.107475683G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026572" "0" "00" "6" "107475822" "107475822" "subst" "35" "0.000384438" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:31:08" "PDSS2_000028" "g.107475822G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026573" "0" "00" "6" "107475874" "107475874" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-01 04:12:35" "PDSS2_000029" "g.107475874C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026574" "0" "00" "6" "107475977" "107475977" "subst" "35" "0.000230663" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-01 03:34:42" "PDSS2_000030" "g.107475977C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026575" "0" "00" "6" "107475978" "107475978" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:31:46" "PDSS2_000031" "g.107475978G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026576" "0" "00" "6" "107533474" "107533474" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-18 04:34:13" "PDSS2_000032" "g.107533474T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026577" "0" "00" "6" "107566787" "107566787" "subst" "35" "0.00107742" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-11-04 23:59:31" "PDSS2_000006" "g.107566787C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026578" "0" "00" "6" "107655418" "107655418" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-30 14:51:36" "PDSS2_000007" "g.107655418T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026579" "0" "00" "6" "107655451" "107655451" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-28 04:50:26" "PDSS2_000008" "g.107655451C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026580" "0" "00" "6" "107780214" "107780214" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 09:25:11" "PDSS2_000040" "g.107780214G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026581" "0" "00" "6" "107780479" "107780479" "subst" "35" "0.00238352" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:38:23" "PDSS2_000038" "g.107780479C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026582" "0" "00" "6" "107780483" "107780483" "subst" "35" "0.00215285" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:38:31" "PDSS2_000039" "g.107780483A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026583" "0" "00" "6" "107780571" "107780571" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-07-31 19:14:15" "PDSS2_000004" "g.107780571C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026584" "0" "00" "6" "107780726" "107780726" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:37:05" "PDSS2_000005" "g.107780726A>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 = 42 "{{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}}" "0000001208" "00000263" "99" "1145" "0" "1145" "0" "c.1145C>T" "8/8" "p.(Ser382Leu)" "r.(?)" "probably_damaging(0.981)" "" "missense_variant" "" "" "deleterious(0.01)" "0000001209" "00000263" "99" "964" "0" "964" "0" "c.964C>T" "6/8" "p.(Gln322*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000022160" "00000263" "00" "1190" "0" "1191" "0" "c.1190_1191del" "" "p.(Arg397Ilefs*7)" "r.(?)" "" "" "" "" "" "-" "0000022161" "00000263" "00" "1145" "0" "1145" "0" "c.1145C>T" "" "p.(Ser382Leu)" "r.(?)" "" "" "" "" "" "-" "0000022162" "00000263" "00" "964" "0" "964" "0" "c.964C>T" "" "p.(Gln322*)" "r.(?)" "" "" "" "" "" "-" "0000026548" "00000263" "00" "3232" "0" "3233" "0" "c.*2032_*2033insA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026549" "00000263" "00" "3227" "0" "3227" "0" "c.*2027A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026550" "00000263" "00" "3086" "0" "3087" "0" "c.*1886_*1887insAA" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026551" "00000263" "00" "3086" "0" "3086" "0" "c.*1886G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026552" "00000263" "00" "2982" "0" "2982" "0" "c.*1782A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026553" "00000263" "00" "2886" "0" "2886" "0" "c.*1686G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026554" "00000263" "00" "2853" "0" "2853" "0" "c.*1653T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026555" "00000263" "00" "2810" "0" "2810" "0" "c.*1610T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026556" "00000263" "00" "2786" "0" "2786" "0" "c.*1586T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026557" "00000263" "00" "2633" "0" "2633" "0" "c.*1433A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026558" "00000263" "00" "2535" "0" "2535" "0" "c.*1335G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026559" "00000263" "00" "2419" "0" "2419" "0" "c.*1219A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026560" "00000263" "00" "2169" "0" "2169" "0" "c.*969T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026561" "00000263" "00" "2035" "0" "2035" "0" "c.*835T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026562" "00000263" "00" "2029" "0" "2029" "0" "c.*829T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026563" "00000263" "00" "1974" "0" "1974" "0" "c.*774C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026564" "00000263" "00" "1969" "0" "1969" "0" "c.*769G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026565" "00000263" "00" "1926" "0" "1926" "0" "c.*726A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026566" "00000263" "00" "1855" "0" "1855" "0" "c.*655T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026567" "00000263" "00" "1744" "0" "1745" "0" "c.*544_*545insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026568" "00000263" "00" "1585" "0" "1585" "0" "c.*385G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026569" "00000263" "00" "1511" "0" "1511" "0" "c.*311G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026570" "00000263" "00" "1459" "0" "1459" "0" "c.*259G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026571" "00000263" "00" "1340" "0" "1340" "0" "c.*140C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026572" "00000263" "00" "1201" "0" "1201" "0" "c.*1C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026573" "00000263" "00" "1149" "0" "1149" "0" "c.1149G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026574" "00000263" "00" "1046" "0" "1046" "0" "c.1046G>A" "" "p.(Arg349Gln)" "r.(?)" "" "" "" "" "" "-" "0000026575" "00000263" "00" "1045" "0" "1045" "0" "c.1045C>T" "" "p.(Arg349*)" "r.(?)" "" "" "" "" "" "-" "0000026576" "00000263" "00" "715" "0" "715" "0" "c.715A>C" "" "p.(Thr239Pro)" "r.(?)" "" "" "" "" "" "-" "0000026577" "00000263" "00" "667" "0" "667" "0" "c.667G>A" "" "p.(Val223Ile)" "r.(?)" "" "" "" "" "" "-" "0000026578" "00000263" "00" "415" "0" "415" "0" "c.415A>G" "" "p.(Ser139Gly)" "r.(?)" "" "" "" "" "" "-" "0000026579" "00000263" "00" "382" "0" "382" "0" "c.382G>A" "" "p.(Val128Met)" "r.(?)" "" "" "" "" "" "-" "0000026580" "00000263" "00" "276" "0" "276" "0" "c.276C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026581" "00000263" "00" "11" "0" "11" "0" "c.11G>C" "" "p.(Arg4Pro)" "r.(?)" "" "" "" "" "" "-" "0000026582" "00000263" "00" "7" "0" "7" "0" "c.7T>C" "" "p.(Phe3Leu)" "r.(?)" "" "" "" "" "" "-" "0000026583" "00000263" "00" "-82" "0" "-82" "0" "c.-82G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026584" "00000263" "00" "-237" "0" "-237" "0" "c.-237T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0