### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PDP1) # 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}}" "PDP1" "pyruvate dehyrogenase phosphatase catalytic subunit 1" "8" "q22.1" "unknown" "NC_000008.10" "UD_132084484849" "" "" "" "1" "1" "9279" "54704" "605993" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com " "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 = 5 "{{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}}" "00000255" "PDP1" "transcript variant 5" "001" "NM_018444.3" "" "NP_060914.2" "" "" "" "-269" "4009" "1614" "94929083" "94938296" "00001" "2013-11-07 13:57:56" "" "" "" "8" "00000256" "PDP1" "transcript variant 3" "002" "NM_001161780.1" "" "NP_001155252.1" "" "" "" "-150" "4084" "1689" "94929162" "94938296" "00001" "2013-11-07 13:57:56" "" "" "" "8" "00000257" "PDP1" "transcript variant 2" "003" "NM_001161779.1" "" "NP_001155251.1" "" "" "" "-276" "4084" "1689" "94929175" "94938296" "00001" "2013-11-07 13:57:56" "" "" "" "8" "00000258" "PDP1" "transcript variant 4" "004" "NM_001161781.1" "" "NP_001155253.1" "" "" "" "-212" "4009" "1614" "94929279" "94938296" "00001" "2013-11-07 13:57:56" "" "" "" "8" "00000259" "PDP1" "transcript variant 1" "005" "NM_001161778.1" "" "NP_001155250.1" "" "" "" "-49" "4186" "1791" "94929992" "94938296" "00001" "2013-11-07 13:57:56" "" "" "" "8" ## 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}}" "00477" "PDHPD" "PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY; PDHPD" "608782" "" "" "" "00001" "2014-04-10 17:30:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PDP1" "00477" ## 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 = 46 "{{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}}" "0000001251" "0" "00" "8" "94934489" "94934489" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:16" "PDP1_000002" "g.94934489G>T" "" "" "" "NA" "subst" "0" ";" "4.230" "" "" "" "" "MSCV_0001251" "" "0000001252" "0" "99" "8" "94934564" "94934564" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-08-04 00:11:00" "PDP1_000001" "g.94934564G>T" "" "{PMID:19184109:19184109}" "" "rs267606938" "subst" "0" "; clinvar;" "6.030" "" "" "" "" "MSCV_0001252" "" "0000022396" "0" "55" "8" "94929210" "94929210" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-20 08:43:16" "PDP1_000043" "g.94929210G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022396" "" "0000022397" "0" "55" "8" "94929285" "94929285" "subst" "35" "0.000174398" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:28:14" "PDP1_000044" "g.94929285C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022397" "" "0000022398" "0" "55" "8" "94934415" "94934415" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:28:18" "PDP1_000045" "g.94934415G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022398" "" "0000022399" "0" "99" "8" "94934564" "94934564" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:27:01" "PDP1_000001" "g.94934564G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001252" "" "0000022400" "0" "55" "8" "94934833" "94934833" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:27:05" "PDP1_000039" "g.94934833C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022400" "" "0000022401" "0" "77" "8" "94935004" "94935004" "subst" "51" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 17:00:00" "PDP1_000040" "g.94935004C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022401" "" "0000022402" "0" "99" "8" "94935137" "94935139" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:27:13" "PDP1_000041" "g.94935137_94935139del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022402" "" "0000022403" "0" "77" "8" "94935193" "94935193" "subst" "51" "0.0012302" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-13 20:59:19" "PDP1_000042" "g.94935193C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022403" "" "0000022404" "0" "77" "8" "94935718" "94935718" "subst" "35" "0.000691988" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:19" "PDP1_000017" "g.94935718C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022404" "" "0000022405" "0" "55" "8" "94935733" "94935733" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:24" "PDP1_000019" "g.94935733C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022405" "" "0000022406" "0" "11" "8" "94935937" "94935937" "subst" "35" "0.404846" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:29" "PDP1_000021" "g.94935937T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022406" "" "0000022407" "0" "55" "8" "94935950" "94935950" "subst" "51" "0.00107875" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 17:00:00" "PDP1_000023" "g.94935950C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022407" "" "0000022408" "0" "33" "8" "94935952" "94935952" "subst" "35" "0.00786794" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:38" "PDP1_000025" "g.94935952G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022408" "" "0000022409" "0" "55" "8" "94936269" "94936269" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:42" "PDP1_000027" "g.94936269C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022409" "" "0000022410" "0" "55" "8" "94936392" "94936392" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:01:58" "PDP1_000012" "g.94936392T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022410" "" "0000022411" "0" "55" "8" "94936467" "94936467" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:03" "PDP1_000013" "g.94936467T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022411" "" "0000022412" "0" "55" "8" "94936493" "94936493" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:08" "PDP1_000014" "g.94936493A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022412" "" "0000022413" "0" "11" "8" "94936532" "94936532" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:12" "PDP1_000015" "g.94936532G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022413" "" "0000022414" "0" "00" "8" "94936619" "94936619" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:16" "PDP1_000016" "g.94936619del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022414" "" "0000022415" "0" "55" "8" "94936644" "94936644" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:22" "PDP1_000018" "g.94936644C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022415" "" "0000022416" "0" "55" "8" "94936787" "94936787" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 05:43:12" "PDP1_000020" "g.94936787C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022416" "" "0000022417" "0" "00" "8" "94936799" "94936801" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:31" "PDP1_000022" "g.94936799_94936801del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022417" "" "0000022418" "0" "55" "8" "94936992" "94936992" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:36" "PDP1_000024" "g.94936992A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022418" "" "0000022419" "0" "55" "8" "94937014" "94937014" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:41" "PDP1_000026" "g.94937014T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022419" "" "0000022420" "0" "55" "8" "94937028" "94937028" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:02:45" "PDP1_000028" "g.94937028T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022420" "" "0000022421" "0" "55" "8" "94937225" "94937225" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-08 05:43:12" "PDP1_000029" "g.94937225G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022421" "" "0000022422" "0" "55" "8" "94937271" "94937271" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:13" "PDP1_000030" "g.94937271A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022422" "" "0000022423" "0" "55" "8" "94937310" "94937310" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:20" "PDP1_000031" "g.94937310G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022423" "" "0000022424" "0" "55" "8" "94937388" "94937388" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:25" "PDP1_000032" "g.94937388A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022424" "" "0000022425" "0" "55" "8" "94937465" "94937465" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-13 20:59:19" "PDP1_000033" "g.94937465C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022425" "" "0000022426" "0" "55" "8" "94937510" "94937510" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:34" "PDP1_000034" "g.94937510A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022426" "" "0000022427" "0" "55" "8" "94937513" "94937513" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:38" "PDP1_000035" "g.94937513G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022427" "" "0000022428" "0" "00" "8" "94937550" "94937550" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:44" "PDP1_000036" "g.94937550del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022428" "" "0000022429" "0" "55" "8" "94937550" "94937551" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:49" "PDP1_000037" "g.94937550_94937551insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022429" "" "0000022430" "0" "55" "8" "94937552" "94937552" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:53" "PDP1_000003" "g.94937552T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022430" "" "0000022431" "0" "55" "8" "94937565" "94937565" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:03:57" "PDP1_000038" "g.94937565G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022431" "" "0000022432" "0" "33" "8" "94937637" "94937637" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:28" "PDP1_000011" "g.94937637G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022432" "" "0000022433" "0" "55" "8" "94937700" "94937700" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:16" "PDP1_000004" "g.94937700G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022433" "" "0000022434" "0" "55" "8" "94937708" "94937708" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-23 00:57:51" "PDP1_000005" "g.94937708T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022434" "" "0000022435" "0" "55" "8" "94937745" "94937745" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:32" "PDP1_000006" "g.94937745A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022435" "" "0000022436" "0" "55" "8" "94937858" "94937858" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:37" "PDP1_000007" "g.94937858G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022436" "" "0000022437" "0" "55" "8" "94937862" "94937862" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:41" "PDP1_000008" "g.94937862G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022437" "" "0000022438" "0" "55" "8" "94938034" "94938034" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-13 20:59:19" "PDP1_000009" "g.94938034G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022438" "" "0000022439" "0" "55" "8" "94938200" "94938200" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:51" "PDP1_000010" "g.94938200A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022439" "" ## 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 = 230 "{{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}}" "0000001251" "00000255" "00" "202" "0" "202" "0" "c.202G>T" "2/2" "p.(Gly68*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001251" "00000256" "00" "277" "0" "277" "0" "c.277G>T" "3/3" "p.(Gly93*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001251" "00000257" "00" "277" "0" "277" "0" "c.277G>T" "3/3" "p.(Gly93*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001251" "00000258" "00" "202" "0" "202" "0" "c.202G>T" "2/2" "p.(Gly68*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001251" "00000259" "00" "379" "0" "379" "0" "c.379G>T" "2/2" "p.(Gly127*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001252" "00000255" "99" "277" "0" "277" "0" "c.277G>T" "2/2" "p.(Glu93*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001252" "00000256" "99" "352" "0" "352" "0" "c.352G>T" "3/3" "p.(Glu118*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001252" "00000257" "99" "352" "0" "352" "0" "c.352G>T" "3/3" "p.(Glu118*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001252" "00000258" "99" "277" "0" "277" "0" "c.277G>T" "2/2" "p.(Glu93*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001252" "00000259" "99" "454" "0" "454" "0" "c.454G>T" "2/2" "p.(Glu152*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000022396" "00000255" "00" "-142" "0" "-142" "0" "c.-142G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022396" "00000256" "00" "-102" "0" "-102" "0" "c.-102G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022396" "00000257" "00" "-241" "0" "-241" "0" "c.-241G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022396" "00000258" "00" "-212" "-69" "-212" "-69" "c.-281G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022396" "00000259" "00" "-49" "-782" "-49" "-782" "c.-831G>C" "" "" "" "" "" "" "" "" "-" "0000022397" "00000255" "00" "-67" "0" "-67" "0" "c.-67C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022397" "00000256" "00" "-27" "0" "-27" "0" "c.-27C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022397" "00000257" "00" "-166" "0" "-166" "0" "c.-166C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022397" "00000258" "00" "-206" "0" "-206" "0" "c.-206C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022397" "00000259" "00" "-49" "-707" "-49" "-707" "c.-756C>A" "" "" "" "" "" "" "" "" "-" "0000022398" "00000255" "00" "128" "0" "128" "0" "c.128G>C" "" "p.(Arg43Pro)" "r.(?)" "" "" "" "" "" "-" "0000022398" "00000256" "00" "203" "0" "203" "0" "c.203G>C" "" "p.(Arg68Pro)" "r.(?)" "" "" "" "" "" "-" "0000022398" "00000257" "00" "203" "0" "203" "0" "c.203G>C" "" "p.(Arg68Pro)" "r.(?)" "" "" "" "" "" "-" "0000022398" "00000258" "00" "128" "0" "128" "0" "c.128G>C" "" "p.(Arg43Pro)" "r.(?)" "" "" "" "" "" "-" "0000022398" "00000259" "00" "305" "0" "305" "0" "c.305G>C" "" "" "" "" "" "" "" "" "-" "0000022399" "00000255" "00" "277" "0" "277" "0" "c.277G>T" "" "p.(Glu93*)" "r.(?)" "" "" "" "" "" "-" "0000022399" "00000256" "00" "352" "0" "352" "0" "c.352G>T" "" "p.(Glu118*)" "r.(?)" "" "" "" "" "" "-" "0000022399" "00000257" "00" "352" "0" "352" "0" "c.352G>T" "" "p.(Glu118*)" "r.(?)" "" "" "" "" "" "-" "0000022399" "00000258" "00" "277" "0" "277" "0" "c.277G>T" "" "p.(Glu93*)" "r.(?)" "" "" "" "" "" "-" "0000022399" "00000259" "00" "454" "0" "454" "0" "c.454G>T" "" "" "" "" "" "" "" "" "-" "0000022400" "00000255" "00" "546" "0" "546" "0" "c.546C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022400" "00000256" "00" "621" "0" "621" "0" "c.621C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022400" "00000257" "00" "621" "0" "621" "0" "c.621C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022400" "00000258" "00" "546" "0" "546" "0" "c.546C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022400" "00000259" "00" "723" "0" "723" "0" "c.723C>T" "" "" "" "" "" "" "" "" "-" "0000022401" "00000255" "00" "717" "0" "717" "0" "c.717C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022401" "00000256" "00" "792" "0" "792" "0" "c.792C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022401" "00000257" "00" "792" "0" "792" "0" "c.792C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022401" "00000258" "00" "717" "0" "717" "0" "c.717C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022401" "00000259" "00" "894" "0" "894" "0" "c.894C>G" "" "" "" "" "" "" "" "" "-" "0000022402" "00000255" "00" "850" "0" "852" "0" "c.850_852del" "" "p.(Leu284del)" "r.(?)" "" "" "" "" "" "-" "0000022402" "00000256" "00" "925" "0" "927" "0" "c.925_927del" "" "p.(Leu309del)" "r.(?)" "" "" "" "" "" "-" "0000022402" "00000257" "00" "925" "0" "927" "0" "c.925_927del" "" "p.(Leu309del)" "r.(?)" "" "" "" "" "" "-" "0000022402" "00000258" "00" "850" "0" "852" "0" "c.850_852del" "" "p.(Leu284del)" "r.(?)" "" "" "" "" "" "-" "0000022402" "00000259" "00" "1027" "0" "1029" "0" "c.1027_1029del" "" "" "" "" "" "" "" "" "-" "0000022403" "00000255" "00" "906" "0" "906" "0" "c.906C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022403" "00000256" "00" "981" "0" "981" "0" "c.981C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022403" "00000257" "00" "981" "0" "981" "0" "c.981C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022403" "00000258" "00" "906" "0" "906" "0" "c.906C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022403" "00000259" "00" "1083" "0" "1083" "0" "c.1083C>T" "" "" "" "" "" "" "" "" "-" "0000022404" "00000255" "00" "1431" "0" "1431" "0" "c.1431C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022404" "00000256" "00" "1506" "0" "1506" "0" "c.1506C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022404" "00000257" "00" "1506" "0" "1506" "0" "c.1506C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022404" "00000258" "00" "1431" "0" "1431" "0" "c.1431C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022404" "00000259" "00" "1608" "0" "1608" "0" "c.1608C>T" "" "" "" "" "" "" "" "" "-" "0000022405" "00000255" "00" "1446" "0" "1446" "0" "c.1446C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022405" "00000256" "00" "1521" "0" "1521" "0" "c.1521C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022405" "00000257" "00" "1521" "0" "1521" "0" "c.1521C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022405" "00000258" "00" "1446" "0" "1446" "0" "c.1446C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022405" "00000259" "00" "1623" "0" "1623" "0" "c.1623C>T" "" "" "" "" "" "" "" "" "-" "0000022406" "00000255" "00" "1650" "0" "1650" "0" "c.*36T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022406" "00000256" "00" "1725" "0" "1725" "0" "c.*36T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022406" "00000257" "00" "1725" "0" "1725" "0" "c.*36T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022406" "00000258" "00" "1650" "0" "1650" "0" "c.*36T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022406" "00000259" "00" "1827" "0" "1827" "0" "c.*36T>C" "" "" "" "" "" "" "" "" "-" "0000022407" "00000255" "00" "1663" "0" "1663" "0" "c.*49C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022407" "00000256" "00" "1738" "0" "1738" "0" "c.*49C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022407" "00000257" "00" "1738" "0" "1738" "0" "c.*49C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022407" "00000258" "00" "1663" "0" "1663" "0" "c.*49C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022407" "00000259" "00" "1840" "0" "1840" "0" "c.*49C>A" "" "" "" "" "" "" "" "" "-" "0000022408" "00000255" "00" "1665" "0" "1665" "0" "c.*51G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022408" "00000256" "00" "1740" "0" "1740" "0" "c.*51G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022408" "00000257" "00" "1740" "0" "1740" "0" "c.*51G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022408" "00000258" "00" "1665" "0" "1665" "0" "c.*51G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022408" "00000259" "00" "1842" "0" "1842" "0" "c.*51G>T" "" "" "" "" "" "" "" "" "-" "0000022409" "00000255" "00" "1982" "0" "1982" "0" "c.*368C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022409" "00000256" "00" "2057" "0" "2057" "0" "c.*368C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022409" "00000257" "00" "2057" "0" "2057" "0" "c.*368C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022409" "00000258" "00" "1982" "0" "1982" "0" "c.*368C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022409" "00000259" "00" "2159" "0" "2159" "0" "c.*368C>G" "" "" "" "" "" "" "" "" "-" "0000022410" "00000255" "00" "2105" "0" "2105" "0" "c.*491T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022410" "00000256" "00" "2180" "0" "2180" "0" "c.*491T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022410" "00000257" "00" "2180" "0" "2180" "0" "c.*491T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022410" "00000258" "00" "2105" "0" "2105" "0" "c.*491T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022410" "00000259" "00" "2282" "0" "2282" "0" "c.*491T>G" "" "" "" "" "" "" "" "" "-" "0000022411" "00000255" "00" "2180" "0" "2180" "0" "c.*566T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022411" "00000256" "00" "2255" "0" "2255" "0" "c.*566T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022411" "00000257" "00" "2255" "0" "2255" "0" "c.*566T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022411" "00000258" "00" "2180" "0" "2180" "0" "c.*566T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022411" "00000259" "00" "2357" "0" "2357" "0" "c.*566T>C" "" "" "" "" "" "" "" "" "-" "0000022412" "00000255" "00" "2206" "0" "2206" "0" "c.*592A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022412" "00000256" "00" "2281" "0" "2281" "0" "c.*592A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022412" "00000257" "00" "2281" "0" "2281" "0" "c.*592A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022412" "00000258" "00" "2206" "0" "2206" "0" "c.*592A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022412" "00000259" "00" "2383" "0" "2383" "0" "c.*592A>G" "" "" "" "" "" "" "" "" "-" "0000022413" "00000255" "00" "2245" "0" "2245" "0" "c.*631G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022413" "00000256" "00" "2320" "0" "2320" "0" "c.*631G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022413" "00000257" "00" "2320" "0" "2320" "0" "c.*631G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022413" "00000258" "00" "2245" "0" "2245" "0" "c.*631G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022413" "00000259" "00" "2422" "0" "2422" "0" "c.*631G>C" "" "" "" "" "" "" "" "" "-" "0000022414" "00000255" "00" "2332" "0" "2332" "0" "c.*718del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022414" "00000256" "00" "2407" "0" "2407" "0" "c.*718del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022414" "00000257" "00" "2407" "0" "2407" "0" "c.*718del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022414" "00000258" "00" "2332" "0" "2332" "0" "c.*718del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022414" "00000259" "00" "2509" "0" "2509" "0" "c.*718del" "" "" "" "" "" "" "" "" "-" "0000022415" "00000255" "00" "2357" "0" "2357" "0" "c.*743C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022415" "00000256" "00" "2432" "0" "2432" "0" "c.*743C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022415" "00000257" "00" "2432" "0" "2432" "0" "c.*743C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022415" "00000258" "00" "2357" "0" "2357" "0" "c.*743C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022415" "00000259" "00" "2534" "0" "2534" "0" "c.*743C>T" "" "" "" "" "" "" "" "" "-" "0000022416" "00000255" "00" "2500" "0" "2500" "0" "c.*886C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022416" "00000256" "00" "2575" "0" "2575" "0" "c.*886C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022416" "00000257" "00" "2575" "0" "2575" "0" "c.*886C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022416" "00000258" "00" "2500" "0" "2500" "0" "c.*886C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022416" "00000259" "00" "2677" "0" "2677" "0" "c.*886C>T" "" "" "" "" "" "" "" "" "-" "0000022417" "00000255" "00" "2512" "0" "2514" "0" "c.*898_*900del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022417" "00000256" "00" "2587" "0" "2589" "0" "c.*898_*900del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022417" "00000257" "00" "2587" "0" "2589" "0" "c.*898_*900del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022417" "00000258" "00" "2512" "0" "2514" "0" "c.*898_*900del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022417" "00000259" "00" "2689" "0" "2691" "0" "c.*898_*900del" "" "" "" "" "" "" "" "" "-" "0000022418" "00000255" "00" "2705" "0" "2705" "0" "c.*1091A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022418" "00000256" "00" "2780" "0" "2780" "0" "c.*1091A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022418" "00000257" "00" "2780" "0" "2780" "0" "c.*1091A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022418" "00000258" "00" "2705" "0" "2705" "0" "c.*1091A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022418" "00000259" "00" "2882" "0" "2882" "0" "c.*1091A>C" "" "" "" "" "" "" "" "" "-" "0000022419" "00000255" "00" "2727" "0" "2727" "0" "c.*1113T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022419" "00000256" "00" "2802" "0" "2802" "0" "c.*1113T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022419" "00000257" "00" "2802" "0" "2802" "0" "c.*1113T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022419" "00000258" "00" "2727" "0" "2727" "0" "c.*1113T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022419" "00000259" "00" "2904" "0" "2904" "0" "c.*1113T>C" "" "" "" "" "" "" "" "" "-" "0000022420" "00000255" "00" "2741" "0" "2741" "0" "c.*1127T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022420" "00000256" "00" "2816" "0" "2816" "0" "c.*1127T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022420" "00000257" "00" "2816" "0" "2816" "0" "c.*1127T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022420" "00000258" "00" "2741" "0" "2741" "0" "c.*1127T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022420" "00000259" "00" "2918" "0" "2918" "0" "c.*1127T>C" "" "" "" "" "" "" "" "" "-" "0000022421" "00000255" "00" "2938" "0" "2938" "0" "c.*1324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022421" "00000256" "00" "3013" "0" "3013" "0" "c.*1324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022421" "00000257" "00" "3013" "0" "3013" "0" "c.*1324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022421" "00000258" "00" "2938" "0" "2938" "0" "c.*1324G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022421" "00000259" "00" "3115" "0" "3115" "0" "c.*1324G>A" "" "" "" "" "" "" "" "" "-" "0000022422" "00000255" "00" "2984" "0" "2984" "0" "c.*1370A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022422" "00000256" "00" "3059" "0" "3059" "0" "c.*1370A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022422" "00000257" "00" "3059" "0" "3059" "0" "c.*1370A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022422" "00000258" "00" "2984" "0" "2984" "0" "c.*1370A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022422" "00000259" "00" "3161" "0" "3161" "0" "c.*1370A>G" "" "" "" "" "" "" "" "" "-" "0000022423" "00000255" "00" "3023" "0" "3023" "0" "c.*1409G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022423" "00000256" "00" "3098" "0" "3098" "0" "c.*1409G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022423" "00000257" "00" "3098" "0" "3098" "0" "c.*1409G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022423" "00000258" "00" "3023" "0" "3023" "0" "c.*1409G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022423" "00000259" "00" "3200" "0" "3200" "0" "c.*1409G>A" "" "" "" "" "" "" "" "" "-" "0000022424" "00000255" "00" "3101" "0" "3101" "0" "c.*1487A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022424" "00000256" "00" "3176" "0" "3176" "0" "c.*1487A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022424" "00000257" "00" "3176" "0" "3176" "0" "c.*1487A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022424" "00000258" "00" "3101" "0" "3101" "0" "c.*1487A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022424" "00000259" "00" "3278" "0" "3278" "0" "c.*1487A>T" "" "" "" "" "" "" "" "" "-" "0000022425" "00000255" "00" "3178" "0" "3178" "0" "c.*1564C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022425" "00000256" "00" "3253" "0" "3253" "0" "c.*1564C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022425" "00000257" "00" "3253" "0" "3253" "0" "c.*1564C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022425" "00000258" "00" "3178" "0" "3178" "0" "c.*1564C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022425" "00000259" "00" "3355" "0" "3355" "0" "c.*1564C>A" "" "" "" "" "" "" "" "" "-" "0000022426" "00000255" "00" "3223" "0" "3223" "0" "c.*1609A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022426" "00000256" "00" "3298" "0" "3298" "0" "c.*1609A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022426" "00000257" "00" "3298" "0" "3298" "0" "c.*1609A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022426" "00000258" "00" "3223" "0" "3223" "0" "c.*1609A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022426" "00000259" "00" "3400" "0" "3400" "0" "c.*1609A>G" "" "" "" "" "" "" "" "" "-" "0000022427" "00000255" "00" "3226" "0" "3226" "0" "c.*1612G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022427" "00000256" "00" "3301" "0" "3301" "0" "c.*1612G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022427" "00000257" "00" "3301" "0" "3301" "0" "c.*1612G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022427" "00000258" "00" "3226" "0" "3226" "0" "c.*1612G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022427" "00000259" "00" "3403" "0" "3403" "0" "c.*1612G>A" "" "" "" "" "" "" "" "" "-" "0000022428" "00000255" "00" "3263" "0" "3263" "0" "c.*1649del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022428" "00000256" "00" "3338" "0" "3338" "0" "c.*1649del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022428" "00000257" "00" "3338" "0" "3338" "0" "c.*1649del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022428" "00000258" "00" "3263" "0" "3263" "0" "c.*1649del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022428" "00000259" "00" "3440" "0" "3440" "0" "c.*1649del" "" "" "" "" "" "" "" "" "-" "0000022429" "00000255" "00" "3263" "0" "3264" "0" "c.*1649_*1650insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022429" "00000256" "00" "3338" "0" "3339" "0" "c.*1649_*1650insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022429" "00000257" "00" "3338" "0" "3339" "0" "c.*1649_*1650insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022429" "00000258" "00" "3263" "0" "3264" "0" "c.*1649_*1650insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022429" "00000259" "00" "3440" "0" "3441" "0" "c.*1649_*1650insG" "" "" "" "" "" "" "" "" "-" "0000022430" "00000255" "00" "3265" "0" "3265" "0" "c.*1651T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022430" "00000256" "00" "3340" "0" "3340" "0" "c.*1651T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022430" "00000257" "00" "3340" "0" "3340" "0" "c.*1651T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022430" "00000258" "00" "3265" "0" "3265" "0" "c.*1651T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022430" "00000259" "00" "3442" "0" "3442" "0" "c.*1651T>G" "" "" "" "" "" "" "" "" "-" "0000022431" "00000255" "00" "3278" "0" "3278" "0" "c.*1664G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022431" "00000256" "00" "3353" "0" "3353" "0" "c.*1664G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022431" "00000257" "00" "3353" "0" "3353" "0" "c.*1664G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022431" "00000258" "00" "3278" "0" "3278" "0" "c.*1664G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022431" "00000259" "00" "3455" "0" "3455" "0" "c.*1664G>A" "" "" "" "" "" "" "" "" "-" "0000022432" "00000255" "00" "3350" "0" "3350" "0" "c.*1736G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022432" "00000256" "00" "3425" "0" "3425" "0" "c.*1736G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022432" "00000257" "00" "3425" "0" "3425" "0" "c.*1736G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022432" "00000258" "00" "3350" "0" "3350" "0" "c.*1736G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022432" "00000259" "00" "3527" "0" "3527" "0" "c.*1736G>C" "" "" "" "" "" "" "" "" "-" "0000022433" "00000255" "00" "3413" "0" "3413" "0" "c.*1799G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022433" "00000256" "00" "3488" "0" "3488" "0" "c.*1799G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022433" "00000257" "00" "3488" "0" "3488" "0" "c.*1799G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022433" "00000258" "00" "3413" "0" "3413" "0" "c.*1799G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022433" "00000259" "00" "3590" "0" "3590" "0" "c.*1799G>C" "" "" "" "" "" "" "" "" "-" "0000022434" "00000255" "00" "3421" "0" "3421" "0" "c.*1807T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022434" "00000256" "00" "3496" "0" "3496" "0" "c.*1807T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022434" "00000257" "00" "3496" "0" "3496" "0" "c.*1807T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022434" "00000258" "00" "3421" "0" "3421" "0" "c.*1807T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022434" "00000259" "00" "3598" "0" "3598" "0" "c.*1807T>A" "" "" "" "" "" "" "" "" "-" "0000022435" "00000255" "00" "3458" "0" "3458" "0" "c.*1844A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022435" "00000256" "00" "3533" "0" "3533" "0" "c.*1844A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022435" "00000257" "00" "3533" "0" "3533" "0" "c.*1844A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022435" "00000258" "00" "3458" "0" "3458" "0" "c.*1844A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022435" "00000259" "00" "3635" "0" "3635" "0" "c.*1844A>C" "" "" "" "" "" "" "" "" "-" "0000022436" "00000255" "00" "3571" "0" "3571" "0" "c.*1957G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022436" "00000256" "00" "3646" "0" "3646" "0" "c.*1957G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022436" "00000257" "00" "3646" "0" "3646" "0" "c.*1957G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022436" "00000258" "00" "3571" "0" "3571" "0" "c.*1957G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022436" "00000259" "00" "3748" "0" "3748" "0" "c.*1957G>T" "" "" "" "" "" "" "" "" "-" "0000022437" "00000255" "00" "3575" "0" "3575" "0" "c.*1961G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022437" "00000256" "00" "3650" "0" "3650" "0" "c.*1961G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022437" "00000257" "00" "3650" "0" "3650" "0" "c.*1961G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022437" "00000258" "00" "3575" "0" "3575" "0" "c.*1961G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022437" "00000259" "00" "3752" "0" "3752" "0" "c.*1961G>C" "" "" "" "" "" "" "" "" "-" "0000022438" "00000255" "00" "3747" "0" "3747" "0" "c.*2133G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022438" "00000256" "00" "3822" "0" "3822" "0" "c.*2133G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022438" "00000257" "00" "3822" "0" "3822" "0" "c.*2133G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022438" "00000258" "00" "3747" "0" "3747" "0" "c.*2133G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022438" "00000259" "00" "3924" "0" "3924" "0" "c.*2133G>A" "" "" "" "" "" "" "" "" "-" "0000022439" "00000255" "00" "3913" "0" "3913" "0" "c.*2299A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022439" "00000256" "00" "3988" "0" "3988" "0" "c.*2299A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022439" "00000257" "00" "3988" "0" "3988" "0" "c.*2299A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022439" "00000258" "00" "3913" "0" "3913" "0" "c.*2299A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022439" "00000259" "00" "4090" "0" "4090" "0" "c.*2299A>G" "" "" "" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0