### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = SUCLA2) # 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}}" "SUCLA2" "succinate-CoA ligase, ADP-forming, beta subunit" "13" "q12.2-q13.3" "unknown" "NC_000013.10" "UD_138385440162" "" "" "" "1" "1" "11448" "8803" "603921" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; 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 = 4 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000312" "SUCLA2" "transcript variant X1" "001" "XM_005266579.1" "" "XP_005266636.1" "" "" "" "-546" "1933" "1218" "48612125" "48516791" "00001" "2013-11-07 14:00:11" "" "" "" "13" "00000313" "SUCLA2" "succinate-CoA ligase, ADP-forming, beta subunit" "002" "NM_003850.2" "" "NP_003841.1" "" "" "" "-57" "2107" "1392" "48575462" "48516791" "00001" "2013-11-07 14:00:11" "" "" "" "13" "00000314" "SUCLA2" "transcript variant X3" "003" "XM_005266581.1" "" "XP_005266638.1" "" "" "" "-543" "1705" "990" "48575449" "48516791" "00001" "2013-11-07 14:00:11" "" "" "" "13" "00000315" "SUCLA2" "transcript variant X2" "004" "XM_005266580.1" "" "XP_005266637.1" "" "" "" "-271" "1933" "1218" "48575211" "48516791" "00001" "2013-11-07 14:00:11" "" "" "" "13" ## 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}}" "00034" "612073" "Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), 612073 (3)" "612073" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "SUCLA2" "00034" ## 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 = 50 "{{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}}" "0000000527" "0" "99" "13" "48528645" "48528645" "subst" "35" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:59:01" "SUCLA2_000004" "g.48528645G>A" "" "{PMID:17301081:17301081}" "" "rs121908538" "subst" "0" "; clinVar; Ensembl;" "5.670" "" "" "" "" "MSCV_0000527" "" "0000000528" "0" "99" "13" "48542781" "48542781" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 10:02:07" "SUCLA2_000003" "g.48542781C>T" "" "{PMID:23759946:23759946}" "" "rs397515462" "subst" "0" "; clinvar; ensembl;" "5.980" "" "" "" "" "MSCV_0000528" "" "0000000529" "0" "99" "13" "48562675" "48562675" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:55:31" "SUCLA2_000001" "g.48562675C>T" "" "{PMID:17287286:17287286};{PMID:20301762:20301762};{PMID:17301081:17301081}" "" "rs113994161" "subst" "0" "; clinVar; Ensembl;" "5.400" "" "" "" "" "MSCV_0000529" "" "0000000530" "0" "99" "13" "48563036" "48563036" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-28 09:09:33" "SUCLA2_000002" "g.48563036C>T" "" "{PMID:17301081:17301081}" "" "rs121908537" "subst" "0" "; clinVar; Ensembl;" "5.160" "" "" "" "" "MSCV_0000530" "" "0000017274" "0" "00" "13" "48516791" "48516792" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:10:40" "SUCLA2_000042" "g.48516791_48516792insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017274" "" "0000017275" "0" "33" "13" "48516845" "48516845" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:56" "SUCLA2_000043" "g.48516845G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017275" "" "0000017276" "0" "33" "13" "48516845" "48516845" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:27:15" "SUCLA2_000044" "g.48516845G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017276" "" "0000017277" "0" "55" "13" "48517038" "48517038" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-03 06:31:38" "SUCLA2_000034" "g.48517038T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017277" "" "0000017278" "0" "55" "13" "48517075" "48517075" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:08:16" "SUCLA2_000035" "g.48517075C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017278" "" "0000017279" "0" "55" "13" "48517157" "48517157" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-24 17:07:26" "SUCLA2_000036" "g.48517157G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017279" "" "0000017280" "0" "55" "13" "48517175" "48517175" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:28:26" "SUCLA2_000037" "g.48517175G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017280" "" "0000017281" "0" "33" "13" "48517178" "48517178" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:27:55" "SUCLA2_000005" "g.48517178T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017281" "" "0000017282" "0" "00" "13" "48517207" "48517209" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:20" "SUCLA2_000006" "g.48517207_48517209del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017282" "" "0000017283" "0" "55" "13" "48517286" "48517286" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:07:49" "SUCLA2_000007" "g.48517286G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017283" "" "0000017284" "0" "11" "13" "48517289" "48517289" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:07:59" "SUCLA2_000008" "g.48517289A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017284" "" "0000017285" "0" "55" "13" "48517301" "48517301" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 16:12:41" "SUCLA2_000009" "g.48517301A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017285" "" "0000017286" "0" "55" "13" "48517311" "48517311" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:56:34" "SUCLA2_000010" "g.48517311T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017286" "" "0000017287" "0" "55" "13" "48517471" "48517471" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-09-10 18:47:02" "SUCLA2_000011" "g.48517471A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017287" "" "0000017288" "0" "77" "13" "48517548" "48517548" "subst" "51" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-21 17:31:54" "SUCLA2_000012" "g.48517548C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017288" "" "0000017289" "0" "33" "13" "48528283" "48528283" "subst" "35" "0.000845763" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-12 15:19:21" "SUCLA2_000013" "g.48528283C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017289" "" "0000017290" "0" "55" "13" "48528308" "48528308" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:09:19" "SUCLA2_000014" "g.48528308T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017290" "" "0000017291" "0" "99" "13" "48528645" "48528645" "subst" "51" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 15:13:25" "SUCLA2_000004" "g.48528645G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000527" "" "0000017292" "0" "55" "13" "48528678" "48528678" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:59:26" "SUCLA2_000015" "g.48528678C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017292" "" "0000017293" "0" "99" "13" "48528680" "48528680" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:06:55" "SUCLA2_000016" "g.48528680T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017293" "" "0000017294" "0" "77" "13" "48528684" "48528684" "subst" "35" "0.000153799" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:07:54" "SUCLA2_000017" "g.48528684T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017294" "" "0000017295" "0" "55" "13" "48542726" "48542726" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-21 17:31:54" "SUCLA2_000018" "g.48542726T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017295" "" "0000017296" "0" "77" "13" "48542743" "48542743" "subst" "35" "0.00461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-10-16 09:23:27" "SUCLA2_000019" "g.48542743A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017296" "" "0000017297" "0" "99" "13" "48542781" "48542781" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:09:23" "SUCLA2_000003" "g.48542781C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000528" "" "0000017298" "0" "11" "13" "48547467" "48547467" "subst" "35" "0.742042" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:09:06" "SUCLA2_000020" "g.48547467A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017298" "" "0000017299" "0" "99" "13" "48562675" "48562675" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:59:50" "SUCLA2_000001" "g.48562675C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000529" "" "0000017300" "0" "55" "13" "48562693" "48562693" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:09:11" "SUCLA2_000021" "g.48562693T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017300" "" "0000017301" "0" "33" "13" "48562700" "48562700" "subst" "35" "0.0153077" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:09:02" "SUCLA2_000022" "g.48562700T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017301" "" "0000017302" "0" "55" "13" "48562837" "48562837" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:00:41" "SUCLA2_000023" "g.48562837G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017302" "" "0000017303" "0" "11" "13" "48563008" "48563008" "subst" "51" "0.741965" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-05 13:15:06" "SUCLA2_000024" "g.48563008G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017303" "" "0000017304" "0" "99" "13" "48563036" "48563036" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-21 17:31:54" "SUCLA2_000002" "g.48563036C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000530" "" "0000017305" "0" "55" "13" "48563114" "48563114" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:08:35" "SUCLA2_000025" "g.48563114A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017305" "" "0000017306" "0" "55" "13" "48563118" "48563118" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-21 17:31:54" "SUCLA2_000038" "g.48563118T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017306" "" "0000017307" "0" "77" "13" "48563129" "48563129" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:08:09" "SUCLA2_000039" "g.48563129C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017307" "" "0000017308" "0" "77" "13" "48570993" "48570993" "subst" "51" "0.00522836" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-21 17:31:55" "SUCLA2_000040" "g.48570993T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017308" "" "0000017309" "0" "77" "13" "48571013" "48571013" "subst" "51" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 04:09:52" "SUCLA2_000041" "g.48571013G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017309" "" "0000017310" "0" "33" "13" "48571139" "48571139" "subst" "35" "0.0260689" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:28:17" "SUCLA2_000026" "g.48571139A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017310" "" "0000017311" "0" "33" "13" "48575328" "48575328" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:52:12" "SUCLA2_000027" "g.48575328C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017311" "" "0000017312" "0" "55" "13" "48575338" "48575338" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:08:52" "SUCLA2_000028" "g.48575338G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017312" "" "0000017313" "0" "77" "13" "48575385" "48575385" "subst" "51" "0.000154178" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-30 21:29:19" "SUCLA2_000029" "g.48575385G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017313" "" "0000017314" "0" "55" "13" "48575417" "48575417" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-07 03:20:18" "SUCLA2_000030" "g.48575417A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017314" "" "0000017315" "0" "55" "13" "48575439" "48575439" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 10:00:45" "SUCLA2_000031" "g.48575439C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017315" "" "0000017316" "0" "55" "13" "48575453" "48575453" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:56:49" "SUCLA2_000032" "g.48575453C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017316" "" "0000017317" "0" "55" "13" "48575454" "48575454" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 09:53:09" "SUCLA2_000033" "g.48575454G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017317" "" "0000024779" "0" "00" "13" "48528575" "48528575" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:34:38" "SUCLA2_000045" "g.48528575G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024780" "0" "00" "13" "48547445" "48547445" "subst" "35" "0.000999539" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:35:02" "SUCLA2_000046" "g.48547445T>C" "" "" "" "" "" "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 = 200 "{{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}}" "0000000527" "00000312" "99" "676" "0" "676" "0" "c.676C>T" "7/11" "" "" "benign(0.136)" "" "missense_variant" "" "" "deleterious(0)" "0000000527" "00000313" "99" "850" "0" "850" "0" "c.850C>T" "7/11" "p.(Arg284Cys)" "r.(?)" "benign(0.136)" "" "missense_variant" "" "" "deleterious(0)" "0000000527" "00000314" "99" "448" "0" "448" "0" "c.448C>T" "8/12" "p.(Arg150Cys)" "r.(?)" "benign(0.136)" "" "missense_variant" "" "" "deleterious(0)" "0000000527" "00000315" "99" "676" "0" "676" "0" "c.676C>T" "7/11" "" "" "benign(0.136)" "" "missense_variant" "" "" "deleterious(0)" "0000000528" "00000312" "99" "577" "0" "577" "0" "c.577G>A" "6/11" "" "" "possibly_damaging(0.875)" "" "missense_variant" "" "" "deleterious(0)" "0000000528" "00000313" "99" "751" "0" "751" "0" "c.751G>A" "6/11" "p.(Asp251Asn)" "r.(?)" "possibly_damaging(0.875)" "" "missense_variant" "" "" "deleterious(0)" "0000000528" "00000314" "99" "349" "0" "349" "0" "c.349G>A" "7/12" "p.(Asp117Asn)" "r.(?)" "possibly_damaging(0.875)" "" "missense_variant" "" "" "deleterious(0)" "0000000528" "00000315" "99" "577" "0" "577" "0" "c.577G>A" "6/11" "" "" "possibly_damaging(0.875)" "" "missense_variant" "" "" "deleterious(0)" "0000000529" "00000312" "99" "360" "1" "360" "1" "c.360+1G>A" "-" "" "" "-" "" "splice_donor_variant" "" "" "-" "0000000529" "00000313" "99" "534" "1" "534" "1" "c.534+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000529" "00000314" "99" "132" "1" "132" "1" "c.132+1G>A" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000529" "00000315" "99" "360" "1" "360" "1" "c.360+1G>A" "-" "" "" "-" "" "splice_donor_variant" "" "" "-" "0000000530" "00000312" "99" "178" "0" "178" "0" "c.178G>A" "3/11" "" "" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000530" "00000313" "99" "352" "0" "352" "0" "c.352G>A" "3/11" "p.(Gly118Arg)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000530" "00000314" "99" "-51" "0" "-51" "0" "c.-51G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000530" "00000315" "99" "178" "0" "178" "0" "c.178G>A" "3/11" "" "" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000017274" "00000312" "00" "1932" "0" "1933" "0" "c.*714_*715insG" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017274" "00000313" "00" "2106" "0" "2107" "0" "c.*714_*715insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017274" "00000314" "00" "1704" "0" "1705" "0" "c.*714_*715insG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017274" "00000315" "00" "1932" "0" "1933" "0" "c.*714_*715insG" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017275" "00000312" "00" "1879" "0" "1879" "0" "c.*661C>G" "" "" "" "" "" "" "" "" "-" "0000017275" "00000313" "00" "2053" "0" "2053" "0" "c.*661C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017275" "00000314" "00" "1651" "0" "1651" "0" "c.*661C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017275" "00000315" "00" "1879" "0" "1879" "0" "c.*661C>G" "" "" "" "" "" "" "" "" "-" "0000017276" "00000312" "00" "1879" "0" "1879" "0" "c.*661C>A" "" "" "" "" "" "" "" "" "-" "0000017276" "00000313" "00" "2053" "0" "2053" "0" "c.*661C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017276" "00000314" "00" "1651" "0" "1651" "0" "c.*661C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017276" "00000315" "00" "1879" "0" "1879" "0" "c.*661C>A" "" "" "" "" "" "" "" "" "-" "0000017277" "00000312" "00" "1686" "0" "1686" "0" "c.*468A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017277" "00000313" "00" "1860" "0" "1860" "0" "c.*468A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017277" "00000314" "00" "1458" "0" "1458" "0" "c.*468A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017277" "00000315" "00" "1686" "0" "1686" "0" "c.*468A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017278" "00000312" "00" "1649" "0" "1649" "0" "c.*431G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017278" "00000313" "00" "1823" "0" "1823" "0" "c.*431G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017278" "00000314" "00" "1421" "0" "1421" "0" "c.*431G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017278" "00000315" "00" "1649" "0" "1649" "0" "c.*431G>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017279" "00000312" "00" "1567" "0" "1567" "0" "c.*349C>G" "" "" "" "" "" "" "" "" "-" "0000017279" "00000313" "00" "1741" "0" "1741" "0" "c.*349C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017279" "00000314" "00" "1339" "0" "1339" "0" "c.*349C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017279" "00000315" "00" "1567" "0" "1567" "0" "c.*349C>G" "" "" "" "" "" "" "" "" "-" "0000017280" "00000312" "00" "1549" "0" "1549" "0" "c.*331C>A" "" "" "" "" "" "" "" "" "-" "0000017280" "00000313" "00" "1723" "0" "1723" "0" "c.*331C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017280" "00000314" "00" "1321" "0" "1321" "0" "c.*331C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017280" "00000315" "00" "1549" "0" "1549" "0" "c.*331C>A" "" "" "" "" "" "" "" "" "-" "0000017281" "00000312" "00" "1546" "0" "1546" "0" "c.*328A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017281" "00000313" "00" "1720" "0" "1720" "0" "c.*328A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017281" "00000314" "00" "1318" "0" "1318" "0" "c.*328A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017281" "00000315" "00" "1546" "0" "1546" "0" "c.*328A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017282" "00000312" "00" "1515" "0" "1517" "0" "c.*297_*299del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017282" "00000313" "00" "1689" "0" "1691" "0" "c.*297_*299del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017282" "00000314" "00" "1287" "0" "1289" "0" "c.*297_*299del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017282" "00000315" "00" "1515" "0" "1517" "0" "c.*297_*299del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017283" "00000312" "00" "1438" "0" "1438" "0" "c.*220C>T" "" "" "" "" "" "" "" "" "-" "0000017283" "00000313" "00" "1612" "0" "1612" "0" "c.*220C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017283" "00000314" "00" "1210" "0" "1210" "0" "c.*220C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017283" "00000315" "00" "1438" "0" "1438" "0" "c.*220C>T" "" "" "" "" "" "" "" "" "-" "0000017284" "00000312" "00" "1435" "0" "1435" "0" "c.*217T>C" "" "" "" "" "" "" "" "" "-" "0000017284" "00000313" "00" "1609" "0" "1609" "0" "c.*217T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017284" "00000314" "00" "1207" "0" "1207" "0" "c.*217T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017284" "00000315" "00" "1435" "0" "1435" "0" "c.*217T>C" "" "" "" "" "" "" "" "" "-" "0000017285" "00000312" "00" "1423" "0" "1423" "0" "c.*205T>C" "" "" "" "" "" "" "" "" "-" "0000017285" "00000313" "00" "1597" "0" "1597" "0" "c.*205T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017285" "00000314" "00" "1195" "0" "1195" "0" "c.*205T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017285" "00000315" "00" "1423" "0" "1423" "0" "c.*205T>C" "" "" "" "" "" "" "" "" "-" "0000017286" "00000312" "00" "1413" "0" "1413" "0" "c.*195A>G" "" "" "" "" "" "" "" "" "-" "0000017286" "00000313" "00" "1587" "0" "1587" "0" "c.*195A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017286" "00000314" "00" "1185" "0" "1185" "0" "c.*195A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017286" "00000315" "00" "1413" "0" "1413" "0" "c.*195A>G" "" "" "" "" "" "" "" "" "-" "0000017287" "00000312" "00" "1253" "0" "1253" "0" "c.*35T>G" "" "" "" "" "" "" "" "" "-" "0000017287" "00000313" "00" "1427" "0" "1427" "0" "c.*35T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017287" "00000314" "00" "1025" "0" "1025" "0" "c.*35T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017287" "00000315" "00" "1253" "0" "1253" "0" "c.*35T>G" "" "" "" "" "" "" "" "" "-" "0000017288" "00000312" "00" "1176" "0" "1176" "0" "c.1176G>A" "" "" "" "" "" "" "" "" "-" "0000017288" "00000313" "00" "1350" "0" "1350" "0" "c.1350G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017288" "00000314" "00" "948" "0" "948" "0" "c.948G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017288" "00000315" "00" "1176" "0" "1176" "0" "c.1176G>A" "" "" "" "" "" "" "" "" "-" "0000017289" "00000312" "00" "925" "0" "925" "0" "c.925G>A" "" "" "" "" "" "" "" "" "-" "0000017289" "00000313" "00" "1099" "0" "1099" "0" "c.1099G>A" "" "p.(Asp367Asn)" "r.(?)" "" "" "" "" "" "-" "0000017289" "00000314" "00" "697" "0" "697" "0" "c.697G>A" "" "p.(Asp233Asn)" "r.(?)" "" "" "" "" "" "-" "0000017289" "00000315" "00" "925" "0" "925" "0" "c.925G>A" "" "" "" "" "" "" "" "" "-" "0000017290" "00000312" "00" "900" "0" "900" "0" "c.900A>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017290" "00000313" "00" "1074" "0" "1074" "0" "c.1074A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017290" "00000314" "00" "672" "0" "672" "0" "c.672A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017290" "00000315" "00" "900" "0" "900" "0" "c.900A>C" "" "" "" "" "" "" "" "" "-" "0000017291" "00000312" "00" "676" "0" "676" "0" "c.676C>T" "" "" "" "" "" "" "" "" "-" "0000017291" "00000313" "00" "850" "0" "850" "0" "c.850C>T" "" "p.(Arg284Cys)" "r.(?)" "" "" "" "" "" "-" "0000017291" "00000314" "00" "448" "0" "448" "0" "c.448C>T" "" "p.(Arg150Cys)" "r.(?)" "" "" "" "" "" "-" "0000017291" "00000315" "00" "676" "0" "676" "0" "c.676C>T" "" "" "" "" "" "" "" "" "-" "0000017292" "00000312" "00" "643" "0" "643" "0" "c.643G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017292" "00000313" "00" "817" "0" "817" "0" "c.817G>A" "" "p.(Ala273Thr)" "r.(?)" "" "" "" "" "" "-" "0000017292" "00000314" "00" "415" "0" "415" "0" "c.415G>A" "" "p.(Ala139Thr)" "r.(?)" "" "" "" "" "" "-" "0000017292" "00000315" "00" "643" "0" "643" "0" "c.643G>A" "" "" "" "" "" "" "" "" "-" "0000017293" "00000312" "00" "641" "0" "641" "0" "c.641A>T" "" "" "" "" "" "" "" "" "-" "0000017293" "00000313" "00" "815" "0" "815" "0" "c.815A>T" "" "p.(Asp272Val)" "r.(?)" "" "" "" "" "" "-" "0000017293" "00000314" "00" "413" "0" "413" "0" "c.413A>T" "" "p.(Asp138Val)" "r.(?)" "" "" "" "" "" "-" "0000017293" "00000315" "00" "641" "0" "641" "0" "c.641A>T" "" "" "" "" "" "" "" "" "-" "0000017294" "00000312" "00" "637" "0" "637" "0" "c.637A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017294" "00000313" "00" "811" "0" "811" "0" "c.811A>G" "" "p.(Met271Val)" "r.(?)" "" "" "" "" "" "-" "0000017294" "00000314" "00" "409" "0" "409" "0" "c.409A>G" "" "p.(Met137Val)" "r.(?)" "" "" "" "" "" "-" "0000017294" "00000315" "00" "637" "0" "637" "0" "c.637A>G" "" "" "" "" "" "" "" "" "-" "0000017295" "00000312" "00" "628" "4" "628" "4" "c.628+4A>G" "" "" "" "" "" "" "" "" "-" "0000017295" "00000313" "00" "802" "4" "802" "4" "c.802+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017295" "00000314" "00" "400" "4" "400" "4" "c.400+4A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017295" "00000315" "00" "628" "4" "628" "4" "c.628+4A>G" "" "" "" "" "" "" "" "" "-" "0000017296" "00000312" "00" "615" "0" "615" "0" "c.615T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017296" "00000313" "00" "789" "0" "789" "0" "c.789T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017296" "00000314" "00" "387" "0" "387" "0" "c.387T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017296" "00000315" "00" "615" "0" "615" "0" "c.615T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017297" "00000312" "00" "577" "0" "577" "0" "c.577G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017297" "00000313" "00" "751" "0" "751" "0" "c.751G>A" "" "p.(Asp251Asn)" "r.(?)" "" "" "" "" "" "-" "0000017297" "00000314" "00" "349" "0" "349" "0" "c.349G>A" "" "p.(Asp117Asn)" "r.(?)" "" "" "" "" "" "-" "0000017297" "00000315" "00" "577" "0" "577" "0" "c.577G>A" "" "" "" "" "" "" "" "" "-" "0000017298" "00000312" "00" "421" "0" "421" "0" "c.421T>A" "" "" "" "" "" "" "" "" "-" "0000017298" "00000313" "00" "595" "0" "595" "0" "c.595T>A" "" "p.(Ser199Thr)" "r.(?)" "" "" "" "" "" "-" "0000017298" "00000314" "00" "193" "0" "193" "0" "c.193T>A" "" "p.(Ser65Thr)" "r.(?)" "" "" "" "" "" "-" "0000017298" "00000315" "00" "421" "0" "421" "0" "c.421T>A" "" "" "" "" "" "" "" "" "-" "0000017299" "00000312" "00" "360" "1" "360" "1" "c.360+1G>A" "" "" "" "" "" "" "" "" "-" "0000017299" "00000313" "00" "534" "1" "534" "1" "c.534+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017299" "00000314" "00" "132" "1" "132" "1" "c.132+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017299" "00000315" "00" "360" "1" "360" "1" "c.360+1G>A" "" "" "" "" "" "" "" "" "-" "0000017300" "00000312" "00" "343" "0" "343" "0" "c.343A>G" "" "" "" "" "" "" "" "" "-" "0000017300" "00000313" "00" "517" "0" "517" "0" "c.517A>G" "" "p.(Met173Val)" "r.(?)" "" "" "" "" "" "-" "0000017300" "00000314" "00" "115" "0" "115" "0" "c.115A>G" "" "p.(Met39Val)" "r.(?)" "" "" "" "" "" "-" "0000017300" "00000315" "00" "343" "0" "343" "0" "c.343A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017301" "00000312" "00" "336" "0" "336" "0" "c.336A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017301" "00000313" "00" "510" "0" "510" "0" "c.510A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017301" "00000314" "00" "108" "0" "108" "0" "c.108A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017301" "00000315" "00" "336" "0" "336" "0" "c.336A>G" "" "" "" "" "" "" "" "" "-" "0000017302" "00000312" "00" "199" "0" "199" "0" "c.199C>T" "" "" "" "" "" "" "" "" "-" "0000017302" "00000313" "00" "373" "0" "373" "0" "c.373C>T" "" "p.(Pro125Ser)" "r.(?)" "" "" "" "" "" "-" "0000017302" "00000314" "00" "-30" "0" "-30" "0" "c.-30C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017302" "00000315" "00" "199" "0" "199" "0" "c.199C>T" "" "" "" "" "" "" "" "" "-" "0000017303" "00000312" "00" "197" "9" "197" "9" "c.197+9C>T" "" "" "" "" "" "" "" "" "-" "0000017303" "00000313" "00" "371" "9" "371" "9" "c.371+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017303" "00000314" "00" "-32" "9" "-32" "9" "c.-32+9C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017303" "00000315" "00" "197" "9" "197" "9" "c.197+9C>T" "" "" "" "" "" "" "" "" "-" "0000017304" "00000312" "00" "178" "0" "178" "0" "c.178G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017304" "00000313" "00" "352" "0" "352" "0" "c.352G>A" "" "p.(Gly118Arg)" "r.(?)" "" "" "" "" "" "-" "0000017304" "00000314" "00" "-51" "0" "-51" "0" "c.-51G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017304" "00000315" "00" "178" "0" "178" "0" "c.178G>A" "" "" "" "" "" "" "" "" "-" "0000017305" "00000312" "00" "100" "0" "100" "0" "c.100T>G" "" "" "" "" "" "" "" "" "-" "0000017305" "00000313" "00" "274" "0" "274" "0" "c.274T>G" "" "p.(Ser92Ala)" "r.(?)" "" "" "" "" "" "-" "0000017305" "00000314" "00" "-129" "0" "-129" "0" "c.-129T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017305" "00000315" "00" "100" "0" "100" "0" "c.100T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017306" "00000312" "00" "98" "-2" "98" "-2" "c.98-2A>G" "" "" "" "" "" "" "" "" "-" "0000017306" "00000313" "00" "272" "-2" "272" "-2" "c.272-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017306" "00000314" "00" "-131" "-2" "-131" "-2" "c.-131-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017306" "00000315" "00" "98" "-2" "98" "-2" "c.98-2A>G" "" "" "" "" "" "" "" "" "-" "0000017307" "00000312" "00" "98" "-13" "98" "-13" "c.98-13G>C" "" "" "" "" "" "" "" "" "-" "0000017307" "00000313" "00" "272" "-13" "272" "-13" "c.272-13G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017307" "00000314" "00" "-131" "-13" "-131" "-13" "c.-131-13G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017307" "00000315" "00" "98" "-13" "98" "-13" "c.98-13G>C" "" "" "" "" "" "" "" "" "-" "0000017308" "00000312" "00" "82" "0" "82" "0" "c.82A>G" "" "" "" "" "" "" "" "" "-" "0000017308" "00000313" "00" "256" "0" "256" "0" "c.256A>G" "" "p.(Ile86Val)" "r.(?)" "" "" "" "" "" "-" "0000017308" "00000314" "00" "-244" "0" "-244" "0" "c.-244A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017308" "00000315" "00" "82" "0" "82" "0" "c.82A>G" "" "" "" "" "" "" "" "" "-" "0000017309" "00000312" "00" "62" "0" "62" "0" "c.62C>T" "" "" "" "" "" "" "" "" "-" "0000017309" "00000313" "00" "236" "0" "236" "0" "c.236C>T" "" "p.(Ser79Leu)" "r.(?)" "" "" "" "" "" "-" "0000017309" "00000314" "00" "-264" "0" "-264" "0" "c.-264C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017309" "00000315" "00" "62" "0" "62" "0" "c.62C>T" "" "" "" "" "" "" "" "" "-" "0000017310" "00000312" "00" "-65" "0" "-65" "0" "c.-65T>G" "" "" "" "" "" "" "" "" "-" "0000017310" "00000313" "00" "110" "0" "110" "0" "c.110T>G" "" "p.(Leu37Trp)" "r.(?)" "" "" "" "" "" "-" "0000017310" "00000314" "00" "-390" "0" "-390" "0" "c.-390T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017310" "00000315" "00" "-65" "0" "-65" "0" "c.-65T>G" "" "" "" "" "" "" "" "" "-" "0000017311" "00000312" "00" "-84" "-4170" "-84" "-4170" "c.-84-4170G>A" "" "" "" "" "" "" "" "" "-" "0000017311" "00000313" "00" "78" "0" "78" "0" "c.78G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017311" "00000314" "00" "-422" "0" "-422" "0" "c.-422G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017311" "00000315" "00" "-271" "-117" "-271" "-117" "c.-388G>A" "" "" "" "" "" "" "" "" "-" "0000017312" "00000312" "00" "-84" "-4180" "-84" "-4180" "c.-84-4180C>G" "" "" "" "" "" "" "" "" "-" "0000017312" "00000313" "00" "68" "0" "68" "0" "c.68C>G" "" "p.(Thr23Arg)" "r.(?)" "" "" "" "" "" "-" "0000017312" "00000314" "00" "-432" "0" "-432" "0" "c.-432C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017312" "00000315" "00" "-271" "-127" "-271" "-127" "c.-398C>G" "" "" "" "" "" "" "" "" "-" "0000017313" "00000312" "00" "-84" "-4227" "-84" "-4227" "c.-84-4227C>T" "" "" "" "" "" "" "" "" "-" "0000017313" "00000313" "00" "21" "0" "21" "0" "c.21C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017313" "00000314" "00" "-479" "0" "-479" "0" "c.-479C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017313" "00000315" "00" "-271" "-174" "-271" "-174" "c.-445C>T" "" "" "" "" "" "" "" "" "-" "0000017314" "00000312" "00" "-84" "-4259" "-84" "-4259" "c.-84-4259T>G" "" "" "" "" "" "" "" "" "-" "0000017314" "00000313" "00" "-12" "0" "-12" "0" "c.-12T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017314" "00000314" "00" "-511" "0" "-511" "0" "c.-511T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017314" "00000315" "00" "-271" "-206" "-271" "-206" "c.-477T>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017315" "00000312" "00" "-84" "-4281" "-84" "-4281" "c.-84-4281G>T" "" "" "" "" "" "" "" "" "-" "0000017315" "00000313" "00" "-34" "0" "-34" "0" "c.-34G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017315" "00000314" "00" "-533" "0" "-533" "0" "c.-533G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017315" "00000315" "00" "-271" "-228" "-271" "-228" "c.-499G>T" "" "" "" "" "" "" "" "" "-" "0000017316" "00000312" "00" "-84" "-4295" "-84" "-4295" "c.-84-4295G>A" "" "" "" "" "" "" "" "" "-" "0000017316" "00000313" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017316" "00000314" "00" "-543" "-4" "-543" "-4" "c.-547G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017316" "00000315" "00" "-271" "-242" "-271" "-242" "c.-513G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000017317" "00000312" "00" "-84" "-4296" "-84" "-4296" "c.-84-4296C>G" "" "" "" "" "" "" "" "" "-" "0000017317" "00000313" "00" "-49" "0" "-49" "0" "c.-49C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017317" "00000314" "00" "-543" "-5" "-543" "-5" "c.-548C>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017317" "00000315" "00" "-271" "-243" "-271" "-243" "c.-514C>G" "" "" "" "" "" "" "" "" "-" "0000024779" "00000312" "00" "746" "0" "746" "0" "c.746C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000024779" "00000313" "00" "920" "0" "920" "0" "c.920C>T" "" "p.(Ala307Val)" "r.(?)" "" "" "" "" "" "-" "0000024779" "00000314" "00" "518" "0" "518" "0" "c.518C>T" "" "p.(Ala173Val)" "r.(?)" "" "" "" "" "" "-" "0000024779" "00000315" "00" "746" "0" "746" "0" "c.746C>T" "" "" "" "" "" "" "" "" "-" "0000024780" "00000312" "00" "443" "0" "443" "0" "c.443A>G" "" "" "" "" "" "" "" "" "-" "0000024780" "00000313" "00" "617" "0" "617" "0" "c.617A>G" "" "p.(Glu206Gly)" "r.(?)" "" "" "" "" "" "-" "0000024780" "00000314" "00" "215" "0" "215" "0" "c.215A>G" "" "p.(Glu72Gly)" "r.(?)" "" "" "" "" "" "-" "0000024780" "00000315" "00" "443" "0" "443" "0" "c.443A>G" "" "-" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0