### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PC) # 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}}" "PC" "pyruvate carboxylase" "11" "q13.4-q13.5" "unknown" "NC_000011.9" "UD_138312273255" "" "" "" "1" "1" "8636" "5091" "608786" "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 = 6 "{{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}}" "00000239" "PC" "transcript variant X1" "001" "XM_005274030.1" "" "XP_005274087.1" "" "" "" "-350" "3914" "3537" "66725333" "66615993" "00001" "2013-11-07 13:57:37" "" "" "" "11" "00000240" "PC" "transcript variant X2" "002" "XM_005274031.1" "" "XP_005274088.1" "" "" "" "-62" "3914" "3537" "66647007" "66615993" "00001" "2013-11-07 13:57:37" "" "" "" "11" "00000241" "PC" "transcript variant X3" "003" "XM_005274032.1" "" "XP_005274089.1" "" "" "" "-17" "3914" "3537" "66645797" "66615993" "00001" "2013-11-07 13:57:37" "" "" "" "11" "00000242" "PC" "transcript variant 1" "004" "NM_000920.3" "" "NP_000911.2" "" "" "" "-94" "3910" "3537" "66725847" "66615997" "00001" "2013-11-07 13:57:37" "" "" "" "11" "00000243" "PC" "transcript variant 3" "005" "NM_001040716.1" "" "NP_001035806.1" "" "" "" "-282" "3910" "3537" "66725847" "66615997" "00001" "2013-11-07 13:57:37" "" "" "" "11" "00000244" "PC" "transcript variant 2" "006" "NM_022172.2" "" "NP_071504.2" "" "" "" "-49" "3910" "3537" "66675340" "66615997" "00001" "2013-11-07 13:57:37" "" "" "" "11" ## 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}}" "00398" "266150" "Pyruvate carboxylase deficiency, 266150 (3)" "266150" "" "" "" "00001" "2013-12-10 14:31:00" "" "" "GTR C0751651" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PC" "00398" ## 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 = 126 "{{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}}" "0000000297" "0" "99" "11" "66616497" "66616498" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-02-16 03:21:32" "PC_000018" "g.66616497_66616498del" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994148" "del" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000297" "" "0000000298" "0" "11" "11" "66617432" "66617432" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-23 23:45:27" "PC_000019" "g.66617432C>A" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs1131855" "subst" "0" "; clinvar;" "-10.000" "" "" "" "" "MSCV_0000298" "" "0000000299" "0" "11" "11" "66617790" "66617790" "subst" "35" "0.0127791" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-08-25 00:31:22" "PC_000016" "g.66617790G>A" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs2229745" "subst" "0" "; clinvar;" "3.340" "" "" "" "" "MSCV_0000299" "" "0000000300" "0" "99" "11" "66617869" "66617869" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:59:23" "PC_000017" "g.66617869G>A" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994147" "subst" "0" "; clinvar;" "4.810" "" "" "" "" "MSCV_0000300" "" "0000000301" "0" "11" "11" "66618332" "66618332" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:01" "PC_000001" "g.66618332G>A" "" "" "" "NA" "subst" "0" ";" "1.810" "" "" "" "" "MSCV_0000301" "" "0000000302" "0" "11" "11" "66618332" "66618332" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 13:32:09" "PC_000002" "g.66618332G>C" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs1051707" "subst" "0" "; clinvar;" "1.810" "" "" "" "" "MSCV_0000302" "" "0000000303" "0" "99" "11" "66618389" "66618389" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:03" "PC_000003" "g.66618389C>A" "" "{PMID:20301301:20301301};{PMID:20301764:20301764};{PMID:9585612:9585612}" "" "rs28940590" "subst" "0" "; clinvar;" "4.280" "" "" "" "" "MSCV_0000303" "" "0000000304" "0" "99" "11" "66618620" "66618620" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:04" "PC_000004" "g.66618620G>T" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994146" "subst" "0" "; clinvar;" "4.520" "" "" "" "" "MSCV_0000304" "" "0000000305" "0" "99" "11" "66619351" "66619351" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:05" "PC_000005" "g.66619351C>T" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs113994145" "subst" "0" "; clinvar;" "4.560" "" "" "" "" "MSCV_0000305" "" "0000000306" "0" "99" "11" "66619415" "66619415" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:06" "PC_000006" "g.66619415C>T" "" "{PMID:20301301:20301301};{PMID:20301764:20301764};{PMID:9585612:9585612}" "" "rs28940589" "subst" "0" "; clinvar;" "4.560" "" "" "" "" "MSCV_0000306" "" "0000000307" "0" "99" "11" "66619987" "66619987" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-11-08 01:21:55" "PC_000007" "g.66619987C>A" "" "{PMID:19306334:19306334}" "" "rs119103242" "subst" "0" "; clinvar;" "5.530" "" "" "" "" "MSCV_0000307" "" "0000000308" "0" "99" "11" "66620030" "66620030" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:08" "PC_000008" "g.66620030T>C" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs113994144" "subst" "0" "; clinvar;" "5.530" "" "" "" "" "MSCV_0000308" "" "0000000309" "0" "99" "11" "66631262" "66631262" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:09" "PC_000009" "g.66631262G>A" "" "{PMID:20301764:20301764};{PMID:9585002:9585002};{PMID:20301301:20301301}" "" "rs113994143" "subst" "0" "; clinvar;" "3.620" "" "" "" "" "MSCV_0000309" "" "0000000310" "0" "11" "11" "66633789" "66633789" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:10" "PC_000010" "g.66633789C>A" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs1051704" "subst" "0" "; clinvar;" "3.720" "" "" "" "" "MSCV_0000310" "" "0000000311" "0" "99" "11" "66637880" "66637880" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-03-26 20:23:34" "PC_000011" "g.66637880A>T" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994142" "subst" "0" "; clinvar;" "5.810" "" "" "" "" "MSCV_0000311" "" "0000000312" "0" "99" "11" "66638806" "66638806" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:12" "PC_000012" "g.66638806C>T" "" "{PMID:19306334:19306334}" "" "rs119103241" "subst" "0" "; clinvar;" "4.760" "" "" "" "" "MSCV_0000312" "" "0000000313" "0" "99" "11" "66638839" "66638839" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:13" "PC_000013" "g.66638839A>G" "" "{PMID:20301301:20301301};{PMID:20301764:20301764};{PMID:9585002:9585002}" "" "rs28940591" "subst" "0" "; clinvar;" "4.760" "" "" "" "" "MSCV_0000313" "" "0000000314" "0" "11" "11" "66639252" "66639252" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:14" "PC_000014" "g.66639252T>A" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs7104156" "subst" "0" "; clinvar;" "4.640" "" "" "" "" "MSCV_0000314" "" "0000000315" "0" "99" "11" "66639295" "66639295" "subst" "35" "0.0000769823" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:51:15" "PC_000015" "g.66639295G>A" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs113994141" "subst" "0" "; clinvar;" "4.640" "" "" "" "" "MSCV_0000315" "" "0000005169" "0" "99" "11" "66617869" "66617869" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:07:58" "PC_000017" "g.66617869G>A" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994147" "subst" "0" "; ensembl;" "4.810" "" "" "" "" "MSCV_0005169" "" "0000005170" "0" "99" "11" "66618389" "66618389" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-08-30 00:38:04" "PC_000003" "g.66618389C>A" "" "{PMID:20301301:20301301};{PMID:20301764:20301764};{PMID:9585612:9585612}" "" "rs28940590" "subst" "0" "; ensembl;" "4.280" "" "" "" "" "MSCV_0005170" "" "0000005171" "0" "99" "11" "66618620" "66618620" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2023-04-23 13:32:09" "PC_000004" "g.66618620G>T" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994146" "subst" "0" "; ensembl;" "4.520" "" "" "" "" "MSCV_0005171" "" "0000005172" "0" "99" "11" "66619351" "66619351" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2023-04-23 13:32:09" "PC_000005" "g.66619351C>T" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs113994145" "subst" "0" "; ensembl;" "4.560" "" "" "" "" "MSCV_0005172" "" "0000005173" "0" "99" "11" "66619415" "66619415" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2023-04-23 13:32:09" "PC_000006" "g.66619415C>T" "" "{PMID:20301301:20301301};{PMID:20301764:20301764};{PMID:9585612:9585612}" "" "rs28940589" "subst" "0" "; ensembl;" "4.560" "" "" "" "" "MSCV_0005173" "" "0000005174" "0" "99" "11" "66619987" "66619987" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:07:48" "PC_000007" "g.66619987C>A" "" "{PMID:19306334:19306334}" "" "rs119103242" "subst" "0" "; ensembl;" "5.530" "" "" "" "" "MSCV_0005174" "" "0000005175" "0" "99" "11" "66620030" "66620030" "subst" "51" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2023-04-23 13:32:09" "PC_000008" "g.66620030T>C" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs113994144" "subst" "0" "; ensembl;" "5.530" "" "" "" "" "MSCV_0005175" "" "0000005176" "0" "99" "11" "66631262" "66631262" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:07:55" "PC_000009" "g.66631262G>A" "" "{PMID:20301764:20301764};{PMID:9585002:9585002};{PMID:20301301:20301301}" "" "rs113994143" "subst" "0" "; ensembl;" "3.620" "" "" "" "" "MSCV_0005176" "" "0000005177" "0" "99" "11" "66637880" "66637880" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2018-09-07 17:28:05" "PC_000011" "g.66637880A>T" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994142" "subst" "0" "; ensembl;" "5.810" "" "" "" "" "MSCV_0005177" "" "0000005178" "0" "99" "11" "66638806" "66638806" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:01" "PC_000012" "g.66638806C>T" "" "{PMID:19306334:19306334}" "" "rs119103241" "subst" "0" "; ensembl;" "4.760" "" "" "" "" "MSCV_0005178" "" "0000005179" "0" "99" "11" "66638839" "66638839" "subst" "35" "0" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2016-10-21 11:39:56" "PC_000013" "g.66638839A>G" "" "{PMID:20301301:20301301};{PMID:20301764:20301764};{PMID:9585002:9585002}" "" "rs28940591" "subst" "0" "; ensembl;" "4.760" "" "" "" "" "MSCV_0005179" "" "0000005180" "0" "99" "11" "66639295" "66639295" "subst" "35" "0.0000769823" "00000" "9" "00001" "2015-03-12 18:04:37" "00000" "2015-03-12 18:08:10" "PC_000015" "g.66639295G>A" "" "{PMID:20301301:20301301};{PMID:20301764:20301764}" "" "rs113994141" "subst" "0" "; ensembl;" "4.640" "" "" "" "" "MSCV_0005180" "" "0000005233" "0" "99" "11" "66616497" "66616498" "del" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2021-06-10 17:39:39" "PC_000018" "g.66616497_66616498del" "" "{PMID:20301764:20301764};{PMID:20301301:20301301}" "" "rs113994148" "del" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005233" "" "0000016457" "0" "55" "11" "66615997" "66615997" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:53:04" "PC_000064" "g.66615997G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016457" "" "0000016458" "0" "55" "11" "66616017" "66616017" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:53:10" "PC_000065" "g.66616017T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016458" "" "0000016459" "0" "55" "11" "66616167" "66616167" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:53:16" "PC_000066" "g.66616167A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016459" "" "0000016460" "0" "55" "11" "66616185" "66616185" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:32:43" "PC_000061" "g.66616185C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016460" "" "0000016461" "0" "00" "11" "66616205" "66616206" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-04-11 01:01:18" "PC_000062" "g.66616205_66616206insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016461" "" "0000016462" "0" "55" "11" "66616209" "66616209" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:32:54" "PC_000063" "g.66616209G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016462" "" "0000016463" "0" "55" "11" "66616327" "66616327" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:38" "PC_000055" "g.66616327G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016463" "" "0000016464" "0" "77" "11" "66616355" "66616355" "subst" "35" "0.000461894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:43" "PC_000056" "g.66616355C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016464" "" "0000016465" "0" "55" "11" "66616434" "66616434" "subst" "35" "0.0000769823" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:48" "PC_000057" "g.66616434C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016465" "" "0000016466" "0" "55" "11" "66616472" "66616472" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:54" "PC_000058" "g.66616472C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016466" "" "0000016467" "0" "99" "11" "66616497" "66616498" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:09:59" "PC_000018" "g.66616497_66616498del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000297" "" "0000016468" "0" "55" "11" "66616566" "66616566" "subst" "51" "0.000307929" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 11:30:27" "PC_000059" "g.66616566G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016468" "" "0000016469" "0" "77" "11" "66616791" "66616791" "subst" "51" "0.000538876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-25 11:30:27" "PC_000060" "g.66616791G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016469" "" "0000016470" "0" "11" "11" "66617432" "66617432" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:10:25" "PC_000019" "g.66617432C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000298" "" "0000016471" "0" "55" "11" "66617502" "66617502" "subst" "51" "0.000461894" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 00:31:21" "PC_000041" "g.66617502G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016471" "" "0000016472" "0" "00" "11" "66617590" "66617592" "del" "35" "0.000079885" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:00:05" "PC_000042" "g.66617590_66617592del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016472" "" "0000016473" "0" "55" "11" "66617704" "66617704" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:00:11" "PC_000043" "g.66617704C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016473" "" "0000016474" "0" "99" "11" "66617741" "66617741" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:33" "PC_000020" "g.66617741C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016474" "" "0000016475" "0" "55" "11" "66617790" "66617790" "subst" "35" "0.0127791" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:41" "PC_000016" "g.66617790G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000299" "" "0000016476" "0" "33" "11" "66617829" "66617829" "subst" "35" "0.0157814" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:51" "PC_000021" "g.66617829G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016476" "" "0000016477" "0" "77" "11" "66617859" "66617859" "subst" "35" "0.0013087" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:24:57" "PC_000022" "g.66617859G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016477" "" "0000016478" "0" "99" "11" "66617869" "66617869" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 00:31:21" "PC_000017" "g.66617869G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000300" "" "0000016479" "0" "55" "11" "66618326" "66618326" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-22 19:06:43" "PC_000023" "g.66618326G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016479" "" "0000016480" "0" "11" "11" "66618332" "66618332" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:21" "PC_000002" "g.66618332G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000302" "" "0000016481" "0" "99" "11" "66618389" "66618389" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 13:32:09" "PC_000003" "g.66618389C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000303" "" "0000016482" "0" "33" "11" "66618403" "66618403" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 13:32:09" "PC_000024" "g.66618403A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016482" "" "0000016483" "0" "00" "11" "66618408" "66618409" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:25:44" "PC_000025" "g.66618408_66618409del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016483" "" "0000016484" "0" "99" "11" "66618620" "66618620" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-12 04:24:29" "PC_000004" "g.66618620G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000304" "" "0000016485" "0" "00" "11" "66618639" "66618639" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 00:31:21" "PC_000026" "g.66618639C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016485" "" "0000016486" "0" "00" "11" "66618639" "66618639" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-08 09:15:15" "PC_000027" "g.66618639C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016486" "" "0000016487" "0" "99" "11" "66619351" "66619351" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:14" "PC_000005" "g.66619351C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000305" "" "0000016488" "0" "99" "11" "66619415" "66619415" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-09-22 18:50:27" "PC_000006" "g.66619415C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000306" "" "0000016489" "0" "99" "11" "66619987" "66619987" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 06:18:28" "PC_000007" "g.66619987C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000307" "" "0000016490" "0" "99" "11" "66620030" "66620030" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:34" "PC_000008" "g.66620030T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000308" "" "0000016491" "0" "55" "11" "66620033" "66620033" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:26:41" "PC_000028" "g.66620033T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016491" "" "0000016492" "0" "55" "11" "66620089" "66620089" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-10 23:42:18" "PC_000029" "g.66620089C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016492" "" "0000016493" "0" "77" "11" "66620127" "66620127" "subst" "35" "0.00307929" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:26" "PC_000030" "g.66620127C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016493" "" "0000016494" "0" "55" "11" "66620313" "66620313" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:53" "PC_000031" "g.66620313G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016494" "" "0000016495" "0" "00" "11" "66620697" "66620697" "del" "35" "0.00143793" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:27:59" "PC_000032" "g.66620697del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016495" "" "0000016496" "0" "33" "11" "66620701" "66620701" "subst" "35" "0.0264819" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:05" "PC_000033" "g.66620701G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016496" "" "0000016497" "0" "55" "11" "66620822" "66620822" "subst" "35" "0.000153965" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:13" "PC_000034" "g.66620822G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016497" "" "0000016498" "0" "77" "11" "66631244" "66631244" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:28:19" "PC_000035" "g.66631244C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016498" "" "0000016499" "0" "99" "11" "66631256" "66631256" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 13:32:09" "PC_000044" "g.66631256G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016499" "" "0000016500" "0" "99" "11" "66631262" "66631262" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:00:22" "PC_000009" "g.66631262G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000309" "" "0000016501" "0" "77" "11" "66631269" "66631269" "subst" "35" "0.00161663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:00:47" "PC_000045" "g.66631269C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016501" "" "0000016502" "0" "55" "11" "66631380" "66631380" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:00:53" "PC_000046" "g.66631380G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016502" "" "0000016503" "0" "77" "11" "66633676" "66633676" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:01:01" "PC_000047" "g.66633676C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016503" "" "0000016504" "0" "11" "11" "66633789" "66633789" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:01:07" "PC_000010" "g.66633789C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000310" "" "0000016505" "0" "55" "11" "66633834" "66633834" "subst" "35" "0.000538876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:01:13" "PC_000048" "g.66633834G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016505" "" "0000016506" "0" "77" "11" "66636412" "66636412" "subst" "35" "0.0000769823" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-26 04:16:06" "PC_000049" "g.66636412G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016506" "" "0000016507" "0" "55" "11" "66637797" "66637797" "subst" "35" "0.0000769823" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:01:24" "PC_000050" "g.66637797G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016507" "" "0000016508" "0" "99" "11" "66637880" "66637880" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:01:29" "PC_000011" "g.66637880A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000311" "" "0000016509" "0" "77" "11" "66637888" "66637888" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 13:32:09" "PC_000051" "g.66637888C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016509" "" "0000016510" "0" "55" "11" "66638282" "66638282" "subst" "35" "0.0000769823" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:01:40" "PC_000052" "g.66638282T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016510" "" "0000016511" "0" "55" "11" "66638613" "66638613" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:43" "PC_000053" "g.66638613G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016511" "" "0000016512" "0" "99" "11" "66638806" "66638806" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:48" "PC_000012" "g.66638806C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000312" "" "0000016513" "0" "99" "11" "66638839" "66638839" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:54" "PC_000013" "g.66638839A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000313" "" "0000016514" "0" "55" "11" "66638942" "66638942" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:02:59" "PC_000054" "g.66638942C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016514" "" "0000016515" "0" "11" "11" "66639252" "66639252" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:03:06" "PC_000014" "g.66639252T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000314" "" "0000016516" "0" "77" "11" "66639263" "66639263" "subst" "35" "0.00107792" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:02" "PC_000040" "g.66639263C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016516" "" "0000016517" "0" "99" "11" "66639295" "66639295" "subst" "35" "0.0000769823" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:38:08" "PC_000015" "g.66639295G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000315" "" "0000016518" "0" "55" "11" "66639556" "66639556" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-23 14:48:11" "PC_000036" "g.66639556G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016518" "" "0000016519" "0" "77" "11" "66639579" "66639579" "subst" "35" "0.00108225" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:09" "PC_000037" "g.66639579G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016519" "" "0000016520" "0" "33" "11" "66725839" "66725839" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:14" "PC_000038" "g.66725839T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016520" "" "0000016521" "0" "55" "11" "66725847" "66725847" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:42:19" "PC_000039" "g.66725847C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0016521" "" "0000024104" "0" "00" "11" "66616445" "66616445" "subst" "35" "0.000230947" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:25:56" "PC_000080" "g.66616445C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024105" "0" "00" "11" "66616516" "66616516" "subst" "35" "0.000615858" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:26:23" "PC_000081" "g.66616516C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024106" "0" "00" "11" "66616544" "66616545" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:26:50" "PC_000082" "g.66616544_66616545insATCA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024107" "0" "00" "11" "66616756" "66616758" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-03 01:30:22" "PC_000083" "g.66616756_66616758del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024108" "0" "00" "11" "66617087" "66617088" "delins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:27:44" "PC_000084" "g.66617087_66617088delinsT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024109" "0" "00" "11" "66617122" "66617122" "subst" "51" "0.00115473" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 11:30:27" "PC_000085" "g.66617122C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024110" "0" "00" "11" "66617253" "66617255" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-25 11:30:27" "PC_000086" "g.66617253_66617255del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024111" "0" "00" "11" "66617429" "66617430" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:29:05" "PC_000087" "g.66617429_66617430insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024112" "0" "00" "11" "66617583" "66617583" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:29:32" "PC_000088" "g.66617583G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024113" "0" "00" "11" "66617693" "66617695" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:29:59" "PC_000089" "g.66617693_66617695del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024114" "0" "00" "11" "66617798" "66617799" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-03 23:54:15" "PC_000090" "g.66617798_66617799insCTGGCC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024115" "0" "00" "11" "66617803" "66617803" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000091" "g.66617803C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024116" "0" "00" "11" "66617915" "66617916" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000092" "g.66617915_66617916del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024117" "0" "00" "11" "66619411" "66619411" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:31:46" "PC_000093" "g.66619411G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024118" "0" "00" "11" "66619909" "66619909" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 02:32:12" "PC_000094" "g.66619909C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024119" "0" "00" "11" "66631386" "66631388" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-08-03 15:24:36" "PC_000095" "g.66631386_66631388del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024120" "0" "00" "11" "66633650" "66633653" "del" "35" "0.00271696" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-09-11 18:30:11" "PC_000072" "g.66633650_66633653del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024121" "0" "00" "11" "66633662" "66633662" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000073" "g.66633662A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024122" "0" "00" "11" "66636316" "66636316" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-06-18 22:18:30" "PC_000074" "g.66636316C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024123" "0" "00" "11" "66637870" "66637870" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:13:13" "PC_000075" "g.66637870C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024124" "0" "00" "11" "66637880" "66637880" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-23 00:31:22" "PC_000076" "g.66637880A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024125" "0" "00" "11" "66637890" "66637890" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2021-05-23 00:31:22" "PC_000077" "g.66637890C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024126" "0" "00" "11" "66638465" "66638485" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:14:33" "PC_000078" "g.66638465_66638485del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024127" "0" "00" "11" "66638521" "66638521" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 18:15:01" "PC_000079" "g.66638521A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024128" "0" "00" "11" "66638572" "66638572" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000067" "g.66638572G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024129" "0" "00" "11" "66638660" "66638660" "subst" "51" "0.000769823" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000068" "g.66638660C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024130" "0" "00" "11" "66638898" "66638901" "del" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000069" "g.66638898_66638901del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024131" "0" "00" "11" "66639579" "66639579" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 15:19:27" "PC_000070" "g.66639579G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000024132" "0" "00" "11" "66675291" "66675291" "subst" "51" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-04-23 13:32:09" "PC_000071" "g.66675291C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 698 "{{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}}" "0000000297" "00000239" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000000297" "00000240" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000000297" "00000241" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000000297" "00000242" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000000297" "00000243" "99" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000000297" "00000244" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000000298" "00000239" "11" "2874" "0" "2874" "0" "c.2874G>T" "19/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000298" "00000240" "11" "2874" "0" "2874" "0" "c.2874G>T" "19/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000298" "00000241" "11" "2874" "0" "2874" "0" "c.2874G>T" "19/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000298" "00000242" "11" "2874" "0" "2874" "0" "c.2874G>T" "19/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000298" "00000243" "11" "2874" "0" "2874" "0" "c.2874G>T" "19/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000298" "00000244" "11" "2874" "0" "2874" "0" "c.2874G>T" "19/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000299" "00000239" "11" "2619" "0" "2619" "0" "c.2619C>T" "18/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000299" "00000240" "11" "2619" "0" "2619" "0" "c.2619C>T" "18/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000299" "00000241" "11" "2619" "0" "2619" "0" "c.2619C>T" "18/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000299" "00000242" "11" "2619" "0" "2619" "0" "c.2619C>T" "18/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000299" "00000243" "11" "2619" "0" "2619" "0" "c.2619C>T" "18/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000299" "00000244" "11" "2619" "0" "2619" "0" "c.2619C>T" "18/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000300" "00000243" "99" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000000301" "00000239" "00" "2286" "0" "2286" "0" "c.2286C>T" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000301" "00000240" "00" "2286" "0" "2286" "0" "c.2286C>T" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000301" "00000241" "00" "2286" "0" "2286" "0" "c.2286C>T" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000301" "00000242" "00" "2286" "0" "2286" "0" "c.2286C>T" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000301" "00000243" "00" "2286" "0" "2286" "0" "c.2286C>T" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000301" "00000244" "00" "2286" "0" "2286" "0" "c.2286C>T" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000302" "00000239" "11" "2286" "0" "2286" "0" "c.2286C>G" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000302" "00000240" "11" "2286" "0" "2286" "0" "c.2286C>G" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000302" "00000241" "11" "2286" "0" "2286" "0" "c.2286C>G" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000302" "00000242" "11" "2286" "0" "2286" "0" "c.2286C>G" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000302" "00000243" "11" "2286" "0" "2286" "0" "c.2286C>G" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000302" "00000244" "11" "2286" "0" "2286" "0" "c.2286C>G" "17/22" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000303" "00000243" "99" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000000304" "00000243" "99" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000305" "00000243" "99" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000306" "00000243" "99" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000307" "00000239" "99" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000307" "00000240" "99" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000307" "00000241" "99" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000307" "00000242" "99" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000307" "00000243" "99" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000307" "00000244" "99" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000308" "00000243" "99" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000000309" "00000243" "99" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000310" "00000239" "11" "1054" "0" "1054" "0" "c.1054G>T" "11/23" "p.(Ala352Ser)" "r.(?)" "possibly_damaging(0.702)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000310" "00000240" "11" "1054" "0" "1054" "0" "c.1054G>T" "11/23" "p.(Ala352Ser)" "r.(?)" "possibly_damaging(0.702)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000310" "00000241" "11" "1054" "0" "1054" "0" "c.1054G>T" "11/23" "p.(Ala352Ser)" "r.(?)" "possibly_damaging(0.702)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000310" "00000242" "11" "1054" "0" "1054" "0" "c.1054G>T" "11/23" "p.(Ala352Ser)" "r.(?)" "possibly_damaging(0.702)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000310" "00000243" "11" "1054" "0" "1054" "0" "c.1054G>T" "11/23" "p.(Ala352Ser)" "r.(?)" "possibly_damaging(0.702)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000310" "00000244" "11" "1054" "0" "1054" "0" "c.1054G>T" "11/23" "p.(Ala352Ser)" "r.(?)" "possibly_damaging(0.702)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000311" "00000239" "00" "796" "0" "796" "0" "c.796T>A" "" "" "" "" "" "" "" "" "-" "0000000311" "00000240" "00" "796" "0" "796" "0" "c.796T>A" "" "" "" "" "" "" "" "" "-" "0000000311" "00000241" "00" "796" "0" "796" "0" "c.796T>A" "" "" "" "" "" "" "" "" "-" "0000000311" "00000242" "00" "796" "0" "796" "0" "c.796T>A" "" "" "" "" "" "" "" "" "-" "0000000311" "00000243" "99" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000311" "00000244" "00" "796" "0" "796" "0" "c.796T>A" "" "" "" "" "" "" "" "" "-" "0000000312" "00000243" "99" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000000313" "00000243" "99" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000000314" "00000239" "11" "227" "0" "227" "0" "c.227A>T" "5/23" "p.(His76Leu)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000314" "00000240" "11" "227" "0" "227" "0" "c.227A>T" "5/23" "p.(His76Leu)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000314" "00000241" "11" "227" "0" "227" "0" "c.227A>T" "5/23" "p.(His76Leu)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000314" "00000242" "11" "227" "0" "227" "0" "c.227A>T" "5/23" "p.(His76Leu)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000314" "00000243" "11" "227" "0" "227" "0" "c.227A>T" "5/23" "p.(His76Leu)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000314" "00000244" "11" "227" "0" "227" "0" "c.227A>T" "5/23" "p.(His76Leu)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000000315" "00000243" "99" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005169" "00000239" "00" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000005169" "00000240" "00" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000005169" "00000241" "00" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000005169" "00000242" "00" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000005169" "00000243" "00" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000005169" "00000244" "00" "2540" "0" "2540" "0" "c.2540C>T" "18/22" "p.(Ala847Val)" "r.(?)" "benign(0.145)" "" "missense_variant" "" "" "tolerated(0.09)" "0000005170" "00000239" "00" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000005170" "00000240" "00" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000005170" "00000241" "00" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000005170" "00000242" "00" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000005170" "00000243" "00" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000005170" "00000244" "00" "2229" "0" "2229" "0" "c.2229G>T" "17/22" "p.(Met743Ile)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000005171" "00000239" "00" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005171" "00000240" "00" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005171" "00000241" "00" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005171" "00000242" "00" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005171" "00000243" "00" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005171" "00000244" "00" "2114" "0" "2114" "0" "c.2114C>A" "16/22" "p.(Ser705*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000005172" "00000239" "00" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005172" "00000240" "00" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005172" "00000241" "00" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005172" "00000242" "00" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005172" "00000243" "00" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005172" "00000244" "00" "1892" "0" "1892" "0" "c.1892G>A" "16/23" "p.(Arg631Gln)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005173" "00000239" "00" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000005173" "00000240" "00" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000005173" "00000241" "00" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000005173" "00000242" "00" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000005173" "00000243" "00" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000005173" "00000244" "00" "1828" "0" "1828" "0" "c.1828G>A" "16/23" "p.(Ala610Thr)" "r.(?)" "probably_damaging(1)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000005174" "00000239" "00" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005174" "00000240" "00" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005174" "00000241" "00" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005174" "00000242" "00" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005174" "00000243" "00" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005174" "00000244" "00" "1748" "0" "1748" "0" "c.1748G>T" "14/22" "p.(Arg583Leu)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000005175" "00000239" "00" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000005175" "00000240" "00" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000005175" "00000241" "00" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000005175" "00000242" "00" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000005175" "00000243" "00" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000005175" "00000244" "00" "1705" "0" "1705" "0" "c.1705A>G" "14/22" "p.(Thr569Ala)" "r.(?)" "possibly_damaging(0.676)" "" "missense_variant" "" "" "deleterious(0)" "0000005176" "00000239" "00" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000005176" "00000240" "00" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000005176" "00000241" "00" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000005176" "00000242" "00" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000005176" "00000243" "00" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000005176" "00000244" "00" "1351" "0" "1351" "0" "c.1351C>T" "11/22" "p.(Arg451Cys)" "r.(?)" "probably_damaging(0.982)" "" "missense_variant" "" "" "deleterious(0)" "0000005177" "00000239" "00" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000005177" "00000240" "00" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000005177" "00000241" "00" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000005177" "00000242" "00" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000005177" "00000243" "00" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000005177" "00000244" "00" "796" "0" "796" "0" "c.796T>A" "9/23" "p.(Ser266Thr)" "r.(?)" "probably_damaging(0.951)" "" "missense_variant" "" "" "deleterious(0.02)" "0000005178" "00000239" "00" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000005178" "00000240" "00" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000005178" "00000241" "00" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000005178" "00000242" "00" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000005178" "00000243" "00" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000005178" "00000244" "00" "467" "0" "467" "0" "c.467G>A" "6/23" "p.(Arg156Gln)" "r.(?)" "probably_damaging(0.957)" "" "missense_variant" "" "" "deleterious(0)" "0000005179" "00000239" "00" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000005179" "00000240" "00" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000005179" "00000241" "00" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000005179" "00000242" "00" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000005179" "00000243" "00" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000005179" "00000244" "00" "434" "0" "434" "0" "c.434T>C" "6/23" "p.(Val145Ala)" "r.(?)" "benign(0.084)" "" "missense_variant" "" "" "tolerated(0.42)" "0000005180" "00000239" "00" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005180" "00000240" "00" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005180" "00000241" "00" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005180" "00000242" "00" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005180" "00000243" "00" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005180" "00000244" "00" "184" "0" "184" "0" "c.184C>T" "5/23" "p.(Arg62Cys)" "r.(?)" "probably_damaging(0.953)" "" "missense_variant" "" "" "deleterious(0)" "0000005233" "00000239" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000005233" "00000240" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000005233" "00000241" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000005233" "00000242" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000005233" "00000243" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" "" "" "" "" "" "-" "0000005233" "00000244" "00" "3410" "0" "3409" "0" "c.3409_3410del" "" "p.(Leu1137Valfs*34)" "r.(?)" 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"" "" "" "" "" "-" "0000016469" "00000239" "00" "3198" "0" "3198" "0" "c.3198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016469" "00000240" "00" "3198" "0" "3198" "0" "c.3198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016469" "00000241" "00" "3198" "0" "3198" "0" "c.3198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016469" "00000242" "00" "3198" "0" "3198" "0" "c.3198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016469" "00000243" "00" "3198" "0" "3198" "0" "c.3198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016469" "00000244" "00" "3198" "0" "3198" "0" "c.3198C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016470" "00000239" "00" "2874" "0" "2874" "0" "c.2874G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016470" "00000240" "00" "2874" "0" "2874" "0" "c.2874G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016470" "00000241" "00" "2874" "0" "2874" "0" "c.2874G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016470" "00000242" "00" "2874" "0" "2874" "0" "c.2874G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016470" "00000243" "00" "2874" "0" "2874" "0" "c.2874G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016470" "00000244" "00" "2874" "0" "2874" "0" "c.2874G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016471" "00000239" "00" "2804" "0" "2804" "0" "c.2804C>T" "" "p.(Ala935Val)" "r.(?)" "" "" "" "" "" "-" "0000016471" "00000240" "00" "2804" "0" "2804" "0" "c.2804C>T" "" "p.(Ala935Val)" "r.(?)" "" "" "" "" "" "-" "0000016471" "00000241" "00" "2804" "0" "2804" "0" "c.2804C>T" "" "p.(Ala935Val)" "r.(?)" "" "" "" "" "" "-" "0000016471" "00000242" "00" "2804" "0" "2804" "0" "c.2804C>T" "" "p.(Ala935Val)" "r.(?)" "" "" "" "" "" "-" "0000016471" "00000243" "00" "2804" "0" "2804" "0" "c.2804C>T" "" "p.(Ala935Val)" "r.(?)" "" "" "" "" "" "-" "0000016471" "00000244" "00" "2804" "0" "2804" "0" "c.2804C>T" "" "p.(Ala935Val)" "r.(?)" "" "" "" "" "" "-" "0000016472" "00000239" "00" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016472" "00000240" "00" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016472" "00000241" "00" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016472" "00000242" "00" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016472" "00000243" "00" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016472" "00000244" "00" "2719" "-5" "2719" "-3" "c.2719-5_2719-3del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016473" "00000239" "00" "2705" "0" "2705" "0" "c.2705G>A" "" "p.(Gly902Asp)" "r.(?)" "" "" "" "" "" "-" "0000016473" "00000240" "00" "2705" "0" "2705" "0" "c.2705G>A" "" "p.(Gly902Asp)" "r.(?)" "" "" "" "" "" "-" "0000016473" "00000241" "00" "2705" "0" "2705" "0" "c.2705G>A" "" "p.(Gly902Asp)" "r.(?)" "" "" "" "" "" "-" "0000016473" "00000242" "00" "2705" "0" "2705" "0" "c.2705G>A" "" "p.(Gly902Asp)" "r.(?)" "" "" "" "" "" "-" "0000016473" "00000243" "00" "2705" "0" "2705" "0" "c.2705G>A" "" "p.(Gly902Asp)" "r.(?)" "" "" "" "" "" "-" "0000016473" "00000244" "00" "2705" "0" "2705" "0" "c.2705G>A" "" "p.(Gly902Asp)" "r.(?)" "" "" "" "" "" "-" "0000016474" "00000239" "00" "2668" "0" "2668" "0" "c.2668G>T" "" "p.(Val890Phe)" "r.(?)" "" "" "" "" "" "-" "0000016474" "00000240" "00" "2668" "0" "2668" "0" "c.2668G>T" "" "p.(Val890Phe)" "r.(?)" "" "" "" "" "" "-" "0000016474" "00000241" "00" "2668" "0" "2668" "0" "c.2668G>T" "" "p.(Val890Phe)" "r.(?)" "" "" "" "" "" "-" "0000016474" "00000242" "00" "2668" "0" "2668" "0" "c.2668G>T" "" "p.(Val890Phe)" "r.(?)" "" "" "" "" "" "-" "0000016474" "00000243" "00" "2668" "0" "2668" "0" "c.2668G>T" "" "p.(Val890Phe)" "r.(?)" "" "" "" "" "" "-" "0000016474" "00000244" "00" "2668" "0" "2668" "0" "c.2668G>T" "" "p.(Val890Phe)" "r.(?)" "" "" "" "" "" "-" "0000016475" "00000239" "00" "2619" "0" "2619" "0" "c.2619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016475" "00000240" "00" "2619" "0" "2619" "0" "c.2619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016475" "00000241" "00" "2619" "0" "2619" "0" "c.2619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016475" "00000242" "00" "2619" "0" "2619" "0" "c.2619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016475" "00000243" "00" "2619" "0" "2619" "0" "c.2619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016475" "00000244" "00" "2619" "0" "2619" "0" "c.2619C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016476" "00000239" "00" "2580" "0" "2580" "0" "c.2580C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016476" "00000240" "00" "2580" "0" "2580" "0" "c.2580C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016476" "00000241" "00" "2580" "0" "2580" "0" "c.2580C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016476" "00000242" "00" "2580" "0" "2580" "0" "c.2580C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016476" "00000243" "00" "2580" "0" "2580" "0" "c.2580C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016476" "00000244" "00" "2580" "0" "2580" "0" "c.2580C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016477" "00000239" "00" "2550" "0" "2550" "0" "c.2550C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016477" "00000240" "00" "2550" "0" "2550" "0" "c.2550C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016477" "00000241" "00" "2550" "0" "2550" "0" "c.2550C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016477" "00000242" "00" "2550" "0" "2550" "0" "c.2550C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016477" "00000243" "00" "2550" "0" "2550" "0" "c.2550C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016477" "00000244" "00" "2550" "0" "2550" "0" "c.2550C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016478" "00000239" "00" "2540" "0" "2540" "0" "c.2540C>T" "" "p.(Ala847Val)" "r.(?)" "" "" "" "" "" "-" "0000016478" "00000240" "00" "2540" "0" "2540" "0" "c.2540C>T" "" "p.(Ala847Val)" "r.(?)" "" "" "" "" "" "-" "0000016478" "00000241" "00" "2540" "0" "2540" "0" "c.2540C>T" "" "p.(Ala847Val)" "r.(?)" "" "" "" "" "" "-" "0000016478" "00000242" "00" "2540" "0" "2540" "0" "c.2540C>T" "" "p.(Ala847Val)" "r.(?)" "" "" "" "" "" "-" "0000016478" "00000243" "00" "2540" "0" "2540" "0" "c.2540C>T" "" "p.(Ala847Val)" "r.(?)" "" "" "" "" "" "-" "0000016478" "00000244" "00" "2540" "0" "2540" "0" "c.2540C>T" "" "p.(Ala847Val)" "r.(?)" "" "" "" "" "" "-" "0000016479" "00000239" "00" "2292" "0" "2292" "0" "c.2292C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016479" "00000240" "00" "2292" "0" "2292" "0" "c.2292C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016479" "00000241" "00" "2292" "0" "2292" "0" "c.2292C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016479" "00000242" "00" "2292" "0" "2292" "0" "c.2292C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016479" "00000243" "00" "2292" "0" "2292" "0" "c.2292C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016479" "00000244" "00" "2292" "0" "2292" "0" "c.2292C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016480" "00000239" "00" "2286" "0" "2286" "0" "c.2286C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016480" "00000240" "00" "2286" "0" "2286" "0" "c.2286C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016480" "00000241" "00" "2286" "0" "2286" "0" "c.2286C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016480" "00000242" "00" "2286" "0" "2286" "0" "c.2286C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016480" "00000243" "00" "2286" "0" "2286" "0" "c.2286C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016480" "00000244" "00" "2286" "0" "2286" "0" "c.2286C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016481" "00000239" "00" "2229" "0" "2229" "0" "c.2229G>T" "" "p.(Met743Ile)" "r.(?)" "" "" "" "" "" "-" "0000016481" "00000240" "00" "2229" "0" "2229" "0" "c.2229G>T" "" "p.(Met743Ile)" "r.(?)" "" "" "" "" "" "-" "0000016481" "00000241" "00" "2229" "0" "2229" "0" "c.2229G>T" "" "p.(Met743Ile)" "r.(?)" "" "" "" "" "" "-" "0000016481" "00000242" "00" "2229" "0" "2229" "0" "c.2229G>T" "" "p.(Met743Ile)" "r.(?)" "" "" "" "" "" "-" "0000016481" "00000243" "00" "2229" "0" "2229" "0" "c.2229G>T" "" "p.(Met743Ile)" "r.(?)" "" "" "" "" "" "-" "0000016481" "00000244" "00" "2229" "0" "2229" "0" "c.2229G>T" "" "p.(Met743Ile)" "r.(?)" "" "" "" "" "" "-" "0000016482" "00000239" "00" "2224" "-9" "2224" "-9" "c.2224-9T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016482" "00000240" "00" "2224" "-9" "2224" "-9" "c.2224-9T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016482" "00000241" "00" "2224" "-9" "2224" "-9" "c.2224-9T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016482" "00000242" "00" "2224" "-9" "2224" "-9" "c.2224-9T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016482" "00000243" "00" "2224" "-9" "2224" "-9" "c.2224-9T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016482" "00000244" "00" "2224" "-9" "2224" "-9" "c.2224-9T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016483" "00000239" "00" "2224" "-15" "2224" "-14" "c.2224-15_2224-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016483" "00000240" "00" "2224" "-15" "2224" "-14" "c.2224-15_2224-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016483" "00000241" "00" "2224" "-15" "2224" "-14" "c.2224-15_2224-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016483" "00000242" "00" "2224" "-15" "2224" "-14" "c.2224-15_2224-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016483" "00000243" "00" "2224" "-15" "2224" "-14" "c.2224-15_2224-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016483" "00000244" "00" "2224" "-15" "2224" "-14" "c.2224-15_2224-14del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016484" "00000239" "00" "2114" "0" "2114" "0" "c.2114C>A" "" "p.(Ser705*)" "r.(?)" "" "" "" "" "" "-" "0000016484" "00000240" "00" "2114" "0" "2114" "0" "c.2114C>A" "" "p.(Ser705*)" "r.(?)" "" "" "" "" "" "-" "0000016484" "00000241" "00" "2114" "0" "2114" "0" "c.2114C>A" "" "p.(Ser705*)" "r.(?)" "" "" "" "" "" "-" "0000016484" "00000242" "00" "2114" "0" "2114" "0" "c.2114C>A" "" "p.(Ser705*)" "r.(?)" "" "" "" "" "" "-" "0000016484" "00000243" "00" "2114" "0" "2114" "0" "c.2114C>A" "" "p.(Ser705*)" "r.(?)" "" "" "" "" "" "-" "0000016484" "00000244" "00" "2114" "0" "2114" "0" "c.2114C>A" "" "p.(Ser705*)" "r.(?)" "" "" "" "" "" "-" "0000016485" "00000239" "00" "2095" "0" "2095" "0" "c.2095G>A" "" "p.(Val699Met)" "r.(?)" "" "" "" "" "" "-" "0000016485" "00000240" "00" "2095" "0" "2095" "0" "c.2095G>A" "" "p.(Val699Met)" "r.(?)" "" "" "" "" "" "-" "0000016485" "00000241" "00" "2095" "0" "2095" "0" "c.2095G>A" "" "p.(Val699Met)" "r.(?)" "" "" "" "" "" "-" "0000016485" "00000242" "00" "2095" "0" "2095" "0" "c.2095G>A" "" "p.(Val699Met)" "r.(?)" "" "" "" "" "" "-" "0000016485" "00000243" "00" "2095" "0" "2095" "0" "c.2095G>A" "" "p.(Val699Met)" "r.(?)" "" "" "" "" "" "-" "0000016485" "00000244" "00" "2095" "0" "2095" "0" "c.2095G>A" "" "p.(Val699Met)" "r.(?)" "" "" "" "" "" "-" "0000016486" "00000239" "00" "2095" "0" "2095" "0" "c.2095G>T" "" "p.(Val699Leu)" "r.(?)" "" "" "" "" "" "-" "0000016486" "00000240" "00" "2095" "0" "2095" "0" "c.2095G>T" "" "p.(Val699Leu)" "r.(?)" "" "" "" "" "" "-" "0000016486" "00000241" "00" "2095" "0" "2095" "0" "c.2095G>T" "" "p.(Val699Leu)" "r.(?)" "" "" "" "" "" "-" "0000016486" "00000242" "00" "2095" "0" "2095" "0" "c.2095G>T" "" "p.(Val699Leu)" "r.(?)" "" "" "" "" "" "-" "0000016486" "00000243" "00" "2095" "0" "2095" "0" "c.2095G>T" "" "p.(Val699Leu)" "r.(?)" "" "" "" "" "" "-" "0000016486" "00000244" "00" "2095" "0" "2095" "0" "c.2095G>T" "" "p.(Val699Leu)" "r.(?)" "" "" "" "" "" "-" "0000016487" "00000239" "00" "1892" "0" "1892" "0" "c.1892G>A" "" "p.(Arg631Gln)" "r.(?)" "" "" "" "" "" "-" "0000016487" "00000240" "00" "1892" "0" "1892" "0" "c.1892G>A" "" "p.(Arg631Gln)" "r.(?)" "" "" "" "" "" "-" "0000016487" "00000241" "00" "1892" "0" "1892" "0" "c.1892G>A" "" "p.(Arg631Gln)" "r.(?)" "" "" "" "" "" "-" "0000016487" "00000242" "00" "1892" "0" "1892" "0" "c.1892G>A" "" "p.(Arg631Gln)" "r.(?)" "" "" "" "" "" "-" "0000016487" "00000243" "00" "1892" "0" "1892" "0" "c.1892G>A" "" "p.(Arg631Gln)" "r.(?)" "" "" "" "" "" "-" "0000016487" "00000244" "00" "1892" "0" "1892" "0" "c.1892G>A" "" "p.(Arg631Gln)" "r.(?)" "" "" "" "" "" "-" "0000016488" "00000239" "00" "1828" "0" "1828" "0" "c.1828G>A" "" "p.(Ala610Thr)" "r.(?)" "" "" "" "" "" "-" "0000016488" "00000240" "00" "1828" "0" "1828" "0" "c.1828G>A" "" "p.(Ala610Thr)" "r.(?)" "" "" "" "" "" "-" "0000016488" "00000241" "00" "1828" "0" "1828" "0" "c.1828G>A" "" "p.(Ala610Thr)" "r.(?)" "" "" "" "" "" "-" "0000016488" "00000242" "00" "1828" "0" "1828" "0" "c.1828G>A" "" "p.(Ala610Thr)" "r.(?)" "" "" "" "" "" "-" "0000016488" "00000243" "00" "1828" "0" "1828" "0" "c.1828G>A" "" "p.(Ala610Thr)" "r.(?)" "" "" "" "" "" "-" "0000016488" "00000244" "00" "1828" "0" "1828" "0" "c.1828G>A" "" "p.(Ala610Thr)" "r.(?)" "" "" "" "" "" "-" "0000016489" "00000239" "00" "1748" "0" "1748" "0" "c.1748G>T" "" "p.(Arg583Leu)" "r.(?)" "" "" "" "" "" "-" "0000016489" "00000240" "00" "1748" "0" "1748" "0" "c.1748G>T" "" "p.(Arg583Leu)" "r.(?)" "" "" "" "" "" "-" "0000016489" "00000241" "00" "1748" "0" "1748" "0" "c.1748G>T" "" "p.(Arg583Leu)" "r.(?)" "" "" "" "" "" "-" "0000016489" "00000242" "00" "1748" "0" "1748" "0" "c.1748G>T" "" "p.(Arg583Leu)" "r.(?)" "" "" "" "" "" "-" "0000016489" "00000243" "00" "1748" "0" "1748" "0" "c.1748G>T" "" "p.(Arg583Leu)" "r.(?)" "" "" "" "" "" "-" "0000016489" "00000244" "00" "1748" "0" "1748" "0" "c.1748G>T" "" "p.(Arg583Leu)" "r.(?)" "" "" "" "" "" "-" "0000016490" "00000239" "00" "1705" "0" "1705" "0" "c.1705A>G" "" "p.(Thr569Ala)" "r.(?)" "" "" "" "" "" "-" "0000016490" "00000240" "00" "1705" "0" "1705" "0" "c.1705A>G" "" "p.(Thr569Ala)" "r.(?)" "" "" "" "" "" "-" "0000016490" "00000241" "00" "1705" "0" "1705" "0" "c.1705A>G" "" "p.(Thr569Ala)" "r.(?)" "" "" "" "" "" "-" "0000016490" "00000242" "00" "1705" "0" "1705" "0" "c.1705A>G" "" "p.(Thr569Ala)" "r.(?)" "" "" "" "" "" "-" "0000016490" "00000243" "00" "1705" "0" "1705" "0" "c.1705A>G" "" "p.(Thr569Ala)" "r.(?)" "" "" "" "" "" "-" "0000016490" "00000244" "00" "1705" "0" "1705" "0" "c.1705A>G" "" "p.(Thr569Ala)" "r.(?)" "" "" "" "" "" "-" "0000016491" "00000239" "00" "1702" "0" "1702" "0" "c.1702A>G" "" "p.(Thr568Ala)" "r.(?)" "" "" "" "" "" "-" "0000016491" "00000240" "00" "1702" "0" "1702" "0" "c.1702A>G" "" "p.(Thr568Ala)" "r.(?)" "" "" "" "" "" "-" "0000016491" "00000241" "00" "1702" "0" "1702" "0" "c.1702A>G" "" "p.(Thr568Ala)" "r.(?)" "" "" "" "" "" "-" "0000016491" "00000242" "00" "1702" "0" "1702" "0" "c.1702A>G" "" "p.(Thr568Ala)" "r.(?)" "" "" "" "" "" "-" "0000016491" "00000243" "00" "1702" "0" "1702" "0" "c.1702A>G" "" "p.(Thr568Ala)" "r.(?)" "" "" "" "" "" "-" "0000016491" "00000244" "00" "1702" "0" "1702" "0" "c.1702A>G" "" "p.(Thr568Ala)" "r.(?)" "" "" "" "" "" "-" "0000016492" "00000239" "00" "1646" "0" "1646" "0" "c.1646G>A" "" "p.(Gly549Glu)" "r.(?)" "" "" "" "" "" "-" "0000016492" "00000240" "00" "1646" "0" "1646" "0" "c.1646G>A" "" "p.(Gly549Glu)" "r.(?)" "" "" "" "" "" "-" "0000016492" "00000241" "00" "1646" "0" "1646" "0" "c.1646G>A" "" "p.(Gly549Glu)" "r.(?)" "" "" "" "" "" "-" "0000016492" "00000242" "00" "1646" "0" "1646" "0" "c.1646G>A" "" "p.(Gly549Glu)" "r.(?)" "" "" "" "" "" "-" "0000016492" "00000243" "00" "1646" "0" "1646" "0" "c.1646G>A" "" "p.(Gly549Glu)" "r.(?)" "" "" "" "" "" "-" "0000016492" "00000244" "00" "1646" "0" "1646" "0" "c.1646G>A" "" "p.(Gly549Glu)" "r.(?)" "" "" "" "" "" "-" "0000016493" "00000239" "00" "1608" "0" "1608" "0" "c.1608G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016493" "00000240" "00" "1608" "0" "1608" "0" "c.1608G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016493" "00000241" "00" "1608" "0" "1608" "0" "c.1608G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016493" "00000242" "00" "1608" "0" "1608" "0" "c.1608G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016493" "00000243" "00" "1608" "0" "1608" "0" "c.1608G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016493" "00000244" "00" "1608" "0" "1608" "0" "c.1608G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016494" "00000239" "00" "1514" "-6" "1514" "-6" "c.1514-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016494" "00000240" "00" "1514" "-6" "1514" "-6" "c.1514-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016494" "00000241" "00" "1514" "-6" "1514" "-6" "c.1514-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016494" "00000242" "00" "1514" "-6" "1514" "-6" "c.1514-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016494" "00000243" "00" "1514" "-6" "1514" "-6" "c.1514-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016494" "00000244" "00" "1514" "-6" "1514" "-6" "c.1514-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016495" "00000239" "00" "1513" "13" "1513" "13" "c.1513+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016495" "00000240" "00" "1513" "13" "1513" "13" "c.1513+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016495" "00000241" "00" "1513" "13" "1513" "13" "c.1513+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016495" "00000242" "00" "1513" "13" "1513" "13" "c.1513+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016495" "00000243" "00" "1513" "13" "1513" "13" "c.1513+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016495" "00000244" "00" "1513" "13" "1513" "13" "c.1513+13del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016496" "00000239" "00" "1513" "9" "1513" "9" "c.1513+9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016496" "00000240" "00" "1513" "9" "1513" "9" "c.1513+9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016496" "00000241" "00" "1513" "9" "1513" "9" "c.1513+9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016496" "00000242" "00" "1513" "9" "1513" "9" "c.1513+9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016496" "00000243" "00" "1513" "9" "1513" "9" "c.1513+9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016496" "00000244" "00" "1513" "9" "1513" "9" "c.1513+9C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016497" "00000239" "00" "1401" "0" "1401" "0" "c.1401C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016497" "00000240" "00" "1401" "0" "1401" "0" "c.1401C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016497" "00000241" "00" "1401" "0" "1401" "0" "c.1401C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016497" "00000242" "00" "1401" "0" "1401" "0" "c.1401C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016497" "00000243" "00" "1401" "0" "1401" "0" "c.1401C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016497" "00000244" "00" "1401" "0" "1401" "0" "c.1401C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016498" "00000239" "00" "1368" "1" "1368" "1" "c.1368+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016498" "00000240" "00" "1368" "1" "1368" "1" "c.1368+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016498" "00000241" "00" "1368" "1" "1368" "1" "c.1368+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016498" "00000242" "00" "1368" "1" "1368" "1" "c.1368+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016498" "00000243" "00" "1368" "1" "1368" "1" "c.1368+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016498" "00000244" "00" "1368" "1" "1368" "1" "c.1368+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000016499" "00000239" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000016499" "00000240" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000016499" "00000241" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000016499" "00000242" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000016499" "00000243" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000016499" "00000244" "00" "1357" "0" "1357" "0" "c.1357C>T" "" "p.(Arg453*)" "r.(?)" "" "" "" "" "" "-" "0000016500" "00000239" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(Arg451Cys)" "r.(?)" "" "" "" "" "" "-" "0000016500" "00000240" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(Arg451Cys)" "r.(?)" "" "" "" "" "" "-" "0000016500" "00000241" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(Arg451Cys)" "r.(?)" "" "" "" "" "" "-" "0000016500" "00000242" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(Arg451Cys)" "r.(?)" "" "" "" "" "" "-" "0000016500" "00000243" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(Arg451Cys)" "r.(?)" "" "" "" "" "" "-" "0000016500" "00000244" "00" "1351" "0" "1351" "0" "c.1351C>T" "" "p.(Arg451Cys)" "r.(?)" "" "" "" "" "" "-" "0000016501" "00000239" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016501" "00000240" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016501" "00000241" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016501" "00000242" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016501" "00000243" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016501" "00000244" "00" "1344" "0" "1344" "0" "c.1344G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016502" "00000239" "00" "1233" "0" "1233" "0" "c.1233C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016502" "00000240" "00" "1233" "0" "1233" "0" "c.1233C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016502" "00000241" "00" "1233" "0" "1233" "0" "c.1233C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016502" "00000242" "00" "1233" "0" "1233" "0" "c.1233C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016502" "00000243" "00" "1233" "0" "1233" "0" "c.1233C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016502" "00000244" "00" "1233" "0" "1233" "0" "c.1233C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016503" "00000239" "00" "1167" "0" "1167" "0" "c.1167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016503" "00000240" "00" "1167" "0" "1167" "0" "c.1167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016503" "00000241" "00" "1167" "0" "1167" "0" "c.1167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016503" "00000242" "00" "1167" "0" "1167" "0" "c.1167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016503" "00000243" "00" "1167" "0" "1167" "0" "c.1167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016503" "00000244" "00" "1167" "0" "1167" "0" "c.1167G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016504" "00000239" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Ala352Ser)" "r.(?)" "" "" "" "" "" "-" "0000016504" "00000240" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Ala352Ser)" "r.(?)" "" "" "" "" "" "-" "0000016504" "00000241" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Ala352Ser)" "r.(?)" "" "" "" "" "" "-" "0000016504" "00000242" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Ala352Ser)" "r.(?)" "" "" "" "" "" "-" "0000016504" "00000243" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Ala352Ser)" "r.(?)" "" "" "" "" "" "-" "0000016504" "00000244" "00" "1054" "0" "1054" "0" "c.1054G>T" "" "p.(Ala352Ser)" "r.(?)" "" "" "" "" "" "-" "0000016505" "00000239" "00" "1023" "-14" "1023" "-14" "c.1023-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016505" "00000240" "00" "1023" "-14" "1023" "-14" "c.1023-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016505" "00000241" "00" "1023" "-14" "1023" "-14" "c.1023-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016505" "00000242" "00" "1023" "-14" "1023" "-14" "c.1023-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016505" "00000243" "00" "1023" "-14" "1023" "-14" "c.1023-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016505" "00000244" "00" "1023" "-14" "1023" "-14" "c.1023-14C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016506" "00000239" "00" "927" "0" "927" "0" "c.927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016506" "00000240" "00" "927" "0" "927" "0" "c.927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016506" "00000241" "00" "927" "0" "927" "0" "c.927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016506" "00000242" "00" "927" "0" "927" "0" "c.927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016506" "00000243" "00" "927" "0" "927" "0" "c.927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016506" "00000244" "00" "927" "0" "927" "0" "c.927C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016507" "00000239" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016507" "00000240" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016507" "00000241" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016507" "00000242" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016507" "00000243" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016507" "00000244" "00" "879" "0" "879" "0" "c.879C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016508" "00000239" "00" "796" "0" "796" "0" "c.796T>A" "" "p.(Ser266Thr)" "r.(?)" "" "" "" "" "" "-" "0000016508" "00000240" "00" "796" "0" "796" "0" "c.796T>A" "" "p.(Ser266Thr)" "r.(?)" "" "" "" "" "" "-" "0000016508" "00000241" "00" "796" "0" "796" "0" "c.796T>A" "" "p.(Ser266Thr)" "r.(?)" "" "" "" "" "" "-" "0000016508" "00000242" "00" "796" "0" "796" "0" "c.796T>A" "" "p.(Ser266Thr)" "r.(?)" "" "" "" "" "" "-" "0000016508" "00000243" "00" "796" "0" "796" "0" "c.796T>A" "" "p.(Ser266Thr)" "r.(?)" "" "" "" "" "" "-" "0000016508" "00000244" "00" "796" "0" "796" "0" "c.796T>A" "" "p.(Ser266Thr)" "r.(?)" "" "" "" "" "" "-" "0000016509" "00000239" "00" "788" "0" "788" "0" "c.788G>A" "" "p.(Arg263Gln)" "r.(?)" "" "" "" "" "" "-" "0000016509" "00000240" "00" "788" "0" "788" "0" "c.788G>A" "" "p.(Arg263Gln)" "r.(?)" "" "" "" "" "" "-" "0000016509" "00000241" "00" "788" "0" "788" "0" "c.788G>A" "" "p.(Arg263Gln)" "r.(?)" "" "" "" "" "" "-" "0000016509" "00000242" "00" "788" "0" "788" "0" "c.788G>A" "" "p.(Arg263Gln)" "r.(?)" "" "" "" "" "" "-" "0000016509" "00000243" "00" "788" "0" "788" "0" "c.788G>A" "" "p.(Arg263Gln)" "r.(?)" "" "" "" "" "" "-" "0000016509" "00000244" "00" "788" "0" "788" "0" "c.788G>A" "" "p.(Arg263Gln)" "r.(?)" "" "" "" "" "" "-" "0000016510" "00000239" "00" "715" "0" "715" "0" "c.715A>G" "" "p.(Ile239Val)" "r.(?)" "" "" "" "" "" "-" "0000016510" "00000240" "00" "715" "0" "715" "0" "c.715A>G" "" "p.(Ile239Val)" "r.(?)" "" "" "" "" "" "-" "0000016510" "00000241" "00" "715" "0" "715" "0" "c.715A>G" "" "p.(Ile239Val)" "r.(?)" "" "" "" "" "" "-" "0000016510" "00000242" "00" "715" "0" "715" "0" "c.715A>G" "" "p.(Ile239Val)" "r.(?)" "" "" "" "" "" "-" "0000016510" "00000243" "00" "715" "0" "715" "0" "c.715A>G" "" "p.(Ile239Val)" "r.(?)" "" "" "" "" "" "-" "0000016510" "00000244" "00" "715" "0" "715" "0" "c.715A>G" "" "p.(Ile239Val)" "r.(?)" "" "" "" "" "" "-" "0000016511" "00000239" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016511" "00000240" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016511" "00000241" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016511" "00000242" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016511" "00000243" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016511" "00000244" "00" "543" "0" "543" "0" "c.543C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016512" "00000239" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Arg156Gln)" "r.(?)" "" "" "" "" "" "-" "0000016512" "00000240" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Arg156Gln)" "r.(?)" "" "" "" "" "" "-" "0000016512" "00000241" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Arg156Gln)" "r.(?)" "" "" "" "" "" "-" "0000016512" "00000242" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Arg156Gln)" "r.(?)" "" "" "" "" "" "-" "0000016512" "00000243" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Arg156Gln)" "r.(?)" "" "" "" "" "" "-" "0000016512" "00000244" "00" "467" "0" "467" "0" "c.467G>A" "" "p.(Arg156Gln)" "r.(?)" "" "" "" "" "" "-" "0000016513" "00000239" "00" "434" "0" "434" "0" "c.434T>C" "" "p.(Val145Ala)" "r.(?)" "" "" "" "" "" "-" "0000016513" "00000240" "00" "434" "0" "434" "0" "c.434T>C" "" "p.(Val145Ala)" "r.(?)" "" "" "" "" "" "-" "0000016513" "00000241" "00" "434" "0" "434" "0" "c.434T>C" "" "p.(Val145Ala)" "r.(?)" "" "" "" "" "" "-" "0000016513" "00000242" "00" "434" "0" "434" "0" "c.434T>C" "" "p.(Val145Ala)" "r.(?)" "" "" "" "" "" "-" "0000016513" "00000243" "00" "434" "0" "434" "0" "c.434T>C" "" "p.(Val145Ala)" "r.(?)" "" "" "" "" "" "-" "0000016513" "00000244" "00" "434" "0" "434" "0" "c.434T>C" "" "p.(Val145Ala)" "r.(?)" "" "" "" "" "" "-" "0000016514" "00000239" "00" "331" "0" "331" "0" "c.331G>A" "" "p.(Val111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016514" "00000240" "00" "331" "0" "331" "0" "c.331G>A" "" "p.(Val111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016514" "00000241" "00" "331" "0" "331" "0" "c.331G>A" "" "p.(Val111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016514" "00000242" "00" "331" "0" "331" "0" "c.331G>A" "" "p.(Val111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016514" "00000243" "00" "331" "0" "331" "0" "c.331G>A" "" "p.(Val111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016514" "00000244" "00" "331" "0" "331" "0" "c.331G>A" "" "p.(Val111Ile)" "r.(?)" "" "" "" "" "" "-" "0000016515" "00000239" "00" "227" "0" "227" "0" "c.227A>T" "" "p.(His76Leu)" "r.(?)" "" "" "" "" "" "-" "0000016515" "00000240" "00" "227" "0" "227" "0" "c.227A>T" "" "p.(His76Leu)" "r.(?)" "" "" "" "" "" "-" "0000016515" "00000241" "00" "227" "0" "227" "0" "c.227A>T" "" "p.(His76Leu)" "r.(?)" "" "" "" "" "" "-" "0000016515" "00000242" "00" "227" "0" "227" "0" "c.227A>T" "" "p.(His76Leu)" "r.(?)" "" "" "" "" "" "-" "0000016515" "00000243" "00" "227" "0" "227" "0" "c.227A>T" "" "p.(His76Leu)" "r.(?)" "" "" "" "" "" "-" "0000016515" "00000244" "00" "227" "0" "227" "0" "c.227A>T" "" "p.(His76Leu)" "r.(?)" "" "" "" "" "" "-" "0000016516" "00000239" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016516" "00000240" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016516" "00000241" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016516" "00000242" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016516" "00000243" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016516" "00000244" "00" "216" "0" "216" "0" "c.216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016517" "00000239" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(Arg62Cys)" "r.(?)" "" "" "" "" "" "-" "0000016517" "00000240" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(Arg62Cys)" "r.(?)" "" "" "" "" "" "-" "0000016517" "00000241" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(Arg62Cys)" "r.(?)" "" "" "" "" "" "-" "0000016517" "00000242" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(Arg62Cys)" "r.(?)" "" "" "" "" "" "-" "0000016517" "00000243" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(Arg62Cys)" "r.(?)" "" "" "" "" "" "-" "0000016517" "00000244" "00" "184" "0" "184" "0" "c.184C>T" "" "p.(Arg62Cys)" "r.(?)" "" "" "" "" "" "-" "0000016518" "00000239" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016518" "00000240" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016518" "00000241" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016518" "00000242" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016518" "00000243" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016518" "00000244" "00" "75" "0" "75" "0" "c.75C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016519" "00000239" "00" "52" "0" "52" "0" "c.52C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016519" "00000240" "00" "52" "0" "52" "0" "c.52C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016519" "00000241" "00" "52" "0" "52" "0" "c.52C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016519" "00000242" "00" "52" "0" "52" "0" "c.52C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016519" "00000243" "00" "52" "0" "52" "0" "c.52C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016519" "00000244" "00" "52" "0" "52" "0" "c.52C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016520" "00000239" "00" "-350" "-506" "-350" "-506" "c.-856A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016520" "00000242" "00" "-86" "0" "-86" "0" "c.-86A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016520" "00000243" "00" "-274" "0" "-274" "0" "c.-274A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016521" "00000239" "00" "-350" "-514" "-350" "-514" "c.-864G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016521" "00000242" "00" "-94" "0" "-94" "0" "c.-94G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000016521" "00000243" "00" "-282" "0" "-282" "0" "c.-282G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024104" "00000239" "00" "3462" "0" "3462" "0" "c.3462G>C" "" "p.(Glu1154Asp)" "r.(?)" "" "" "" "" "" "-" "0000024104" "00000240" "00" "3462" "0" "3462" "0" "c.3462G>C" "" "p.(Glu1154Asp)" "r.(?)" "" "" "" "" "" "-" "0000024104" "00000241" "00" "3462" "0" "3462" "0" "c.3462G>C" "" "p.(Glu1154Asp)" "r.(?)" "" "" "" "" "" "-" "0000024104" "00000242" "00" "3462" "0" "3462" "0" "c.3462G>C" "" "p.(Glu1154Asp)" "r.(?)" "" "" "" "" "" "-" "0000024104" "00000243" "00" "3462" "0" "3462" "0" "c.3462G>C" "" "p.(Glu1154Asp)" "r.(?)" "" "" "" "" "" "-" "0000024104" "00000244" "00" "3462" "0" "3462" "0" "c.3462G>C" "" "p.(Glu1154Asp)" "r.(?)" "" "" "" "" "" "-" "0000024105" "00000239" "00" "3391" "0" "3391" "0" "c.3391G>A" "" "p.(Val1131Met)" "r.(?)" "" "" "" "" "" "-" "0000024105" "00000240" "00" "3391" "0" "3391" "0" "c.3391G>A" "" "p.(Val1131Met)" "r.(?)" "" "" "" "" "" "-" "0000024105" "00000241" "00" "3391" "0" "3391" "0" "c.3391G>A" "" "p.(Val1131Met)" "r.(?)" "" "" "" "" "" "-" "0000024105" "00000242" "00" "3391" "0" "3391" "0" "c.3391G>A" "" "p.(Val1131Met)" "r.(?)" "" "" "" "" "" "-" "0000024105" "00000243" "00" "3391" "0" "3391" "0" "c.3391G>A" "" "p.(Val1131Met)" "r.(?)" "" "" "" "" "" "-" "0000024105" "00000244" "00" "3391" "0" "3391" "0" "c.3391G>A" "" "p.(Val1131Met)" "r.(?)" "" "" "" "" "" "-" "0000024106" "00000239" "00" "3362" "0" "3363" "0" "c.3362_3363insTGAT" "" "p.(Ile1123Argfs*50)" "r.(?)" "" "" "" "" "" "-" "0000024106" "00000240" "00" "3362" "0" "3363" "0" "c.3362_3363insTGAT" "" "p.(Ile1123Argfs*50)" "r.(?)" "" "" "" "" "" "-" "0000024106" "00000241" "00" "3362" "0" "3363" "0" "c.3362_3363insTGAT" "" "p.(Ile1123Argfs*50)" "r.(?)" "" "" "" "" "" "-" "0000024106" "00000242" "00" "3362" "0" "3363" "0" "c.3362_3363insTGAT" "" "p.(Ile1123Argfs*50)" "r.(?)" "" "" "" "" "" "-" "0000024106" "00000243" "00" "3362" "0" "3363" "0" "c.3362_3363insTGAT" "" "p.(Ile1123Argfs*50)" "r.(?)" "" "" "" "" "" "-" "0000024106" "00000244" "00" "3362" "0" "3363" "0" "c.3362_3363insTGAT" "" "p.(Ile1123Argfs*50)" "r.(?)" "" "" "" "" "" "-" "0000024107" "00000239" "00" "3231" "0" "3233" "0" "c.3231_3233del" "" "p.(Phe1078del)" "r.(?)" "" "" "" "" "" "-" "0000024107" "00000240" "00" "3231" "0" "3233" "0" "c.3231_3233del" "" "p.(Phe1078del)" "r.(?)" "" "" "" "" "" "-" "0000024107" "00000241" "00" "3231" "0" "3233" "0" "c.3231_3233del" "" "p.(Phe1078del)" "r.(?)" "" "" "" "" "" "-" "0000024107" "00000242" "00" "3231" "0" "3233" "0" "c.3231_3233del" "" "p.(Phe1078del)" "r.(?)" "" "" "" "" "" "-" "0000024107" "00000243" "00" "3231" "0" "3233" "0" "c.3231_3233del" "" "p.(Phe1078del)" "r.(?)" "" "" "" "" "" "-" "0000024107" "00000244" "00" "3231" "0" "3233" "0" "c.3231_3233del" "" "p.(Phe1078del)" "r.(?)" "" "" "" "" "" "-" "0000024108" "00000239" "00" "3141" "0" "3142" "0" "c.3141_3142delinsA" "" "p.(Phe1048Leufs*18)" "r.(?)" "" "" "" "" "" "-" "0000024108" "00000240" "00" "3141" "0" "3142" "0" "c.3141_3142delinsA" "" "p.(Phe1048Leufs*18)" "r.(?)" "" "" "" "" "" "-" "0000024108" "00000241" "00" "3141" "0" "3142" "0" "c.3141_3142delinsA" "" "p.(Phe1048Leufs*18)" "r.(?)" "" "" "" "" "" "-" "0000024108" "00000242" "00" "3141" "0" "3142" "0" "c.3141_3142delinsA" "" "p.(Phe1048Leufs*18)" "r.(?)" "" "" "" "" "" "-" "0000024108" "00000243" "00" "3141" "0" "3142" "0" "c.3141_3142delinsA" "" "p.(Phe1048Leufs*18)" "r.(?)" "" "" "" "" "" "-" "0000024108" "00000244" "00" "3141" "0" "3142" "0" "c.3141_3142delinsA" "" "p.(Phe1048Leufs*18)" "r.(?)" "" "" "" "" "" "-" "0000024109" "00000239" "00" "3107" "0" "3107" "0" "c.3107G>A" "" "p.(Arg1036His)" "r.(?)" "" "" "" "" "" "-" "0000024109" "00000240" "00" "3107" "0" "3107" "0" "c.3107G>A" "" "p.(Arg1036His)" "r.(?)" "" "" "" "" "" "-" "0000024109" "00000241" "00" "3107" "0" "3107" "0" "c.3107G>A" "" "p.(Arg1036His)" "r.(?)" "" "" "" "" "" "-" "0000024109" "00000242" "00" "3107" "0" "3107" "0" "c.3107G>A" "" "p.(Arg1036His)" "r.(?)" "" "" "" "" "" "-" "0000024109" "00000243" "00" "3107" "0" "3107" "0" "c.3107G>A" "" "p.(Arg1036His)" "r.(?)" "" "" "" "" "" "-" "0000024109" "00000244" "00" "3107" "0" "3107" "0" "c.3107G>A" "" "p.(Arg1036His)" "r.(?)" "" "" "" "" "" "-" "0000024110" "00000239" "00" "2974" "0" "2976" "0" "c.2974_2976del" "" "p.(Lys992del)" "r.(?)" "" "" "" "" "" "-" "0000024110" "00000240" "00" "2974" "0" "2976" "0" "c.2974_2976del" "" "p.(Lys992del)" "r.(?)" "" "" "" "" "" "-" "0000024110" "00000241" "00" "2974" "0" "2976" "0" "c.2974_2976del" "" "p.(Lys992del)" "r.(?)" "" "" "" "" "" "-" "0000024110" "00000242" "00" "2974" "0" "2976" "0" "c.2974_2976del" "" "p.(Lys992del)" "r.(?)" "" "" "" "" "" "-" "0000024110" "00000243" "00" "2974" "0" "2976" "0" "c.2974_2976del" "" "p.(Lys992del)" "r.(?)" "" "" "" "" "" "-" "0000024110" "00000244" "00" "2974" "0" "2976" "0" "c.2974_2976del" "" "p.(Lys992del)" "r.(?)" "" "" "" "" "" "-" "0000024111" "00000239" "00" "2876" "0" "2877" "0" "c.2876_2877insT" "" "p.(Glu961Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024111" "00000240" "00" "2876" "0" "2877" "0" "c.2876_2877insT" "" "p.(Glu961Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024111" "00000241" "00" "2876" "0" "2877" "0" "c.2876_2877insT" "" "p.(Glu961Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024111" "00000242" "00" "2876" "0" "2877" "0" "c.2876_2877insT" "" "p.(Glu961Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024111" "00000243" "00" "2876" "0" "2877" "0" "c.2876_2877insT" "" "p.(Glu961Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024111" "00000244" "00" "2876" "0" "2877" "0" "c.2876_2877insT" "" "p.(Glu961Argfs*6)" "r.(?)" "" "" "" "" "" "-" "0000024112" "00000239" "00" "2723" "0" "2723" "0" "c.2723C>T" "" "p.(Thr908Met)" "r.(?)" "" "" "" "" "" "-" "0000024112" "00000240" "00" "2723" "0" "2723" "0" "c.2723C>T" "" "p.(Thr908Met)" "r.(?)" "" "" "" "" "" "-" "0000024112" "00000241" "00" "2723" "0" "2723" "0" "c.2723C>T" "" "p.(Thr908Met)" "r.(?)" "" "" "" "" "" "-" "0000024112" "00000242" "00" "2723" "0" "2723" "0" "c.2723C>T" "" "p.(Thr908Met)" "r.(?)" "" "" "" "" "" "-" "0000024112" "00000243" "00" "2723" "0" "2723" "0" "c.2723C>T" "" "p.(Thr908Met)" "r.(?)" "" "" "" "" "" "-" "0000024112" "00000244" "00" "2723" "0" "2723" "0" "c.2723C>T" "" "p.(Thr908Met)" "r.(?)" "" "" "" "" "" "-" "0000024113" "00000239" "00" "2714" "0" "2716" "0" "c.2714_2716del" "" "p.(Ile905del)" "r.(?)" "" "" "" "" "" "-" "0000024113" "00000240" "00" "2714" "0" "2716" "0" "c.2714_2716del" "" "p.(Ile905del)" "r.(?)" "" "" "" "" "" "-" "0000024113" "00000241" "00" "2714" "0" "2716" "0" "c.2714_2716del" "" "p.(Ile905del)" "r.(?)" "" "" "" "" "" "-" "0000024113" "00000242" "00" "2714" "0" "2716" "0" "c.2714_2716del" "" "p.(Ile905del)" "r.(?)" "" "" "" "" "" "-" "0000024113" "00000243" "00" "2714" "0" "2716" "0" "c.2714_2716del" "" "p.(Ile905del)" "r.(?)" "" "" "" "" "" "-" "0000024113" "00000244" "00" "2714" "0" "2716" "0" "c.2714_2716del" "" "p.(Ile905del)" "r.(?)" "" "" "" "" "" "-" "0000024114" "00000239" "00" "2610" "0" "2611" "0" "c.2610_2611insGGCCAG" "" "p.(Gly869_Gln870dup)" "r.(?)" "" "" "" "" "" "-" "0000024114" "00000240" "00" "2610" "0" "2611" "0" "c.2610_2611insGGCCAG" "" "p.(Gly869_Gln870dup)" "r.(?)" "" "" "" "" "" "-" "0000024114" "00000241" "00" "2610" "0" "2611" "0" "c.2610_2611insGGCCAG" "" "p.(Gly869_Gln870dup)" "r.(?)" "" "" "" "" "" "-" "0000024114" "00000242" "00" "2610" "0" "2611" "0" "c.2610_2611insGGCCAG" "" "p.(Gly869_Gln870dup)" "r.(?)" "" "" "" "" "" "-" "0000024114" "00000243" "00" "2610" "0" "2611" "0" "c.2610_2611insGGCCAG" "" "p.(Gly869_Gln870dup)" "r.(?)" "" "" "" "" "" "-" "0000024114" "00000244" "00" "2610" "0" "2611" "0" "c.2610_2611insGGCCAG" "" "p.(Gly869_Gln870dup)" "r.(?)" "" "" "" "" "" "-" "0000024115" "00000239" "00" "2606" "0" "2606" "0" "c.2606G>A" "" "p.(Gly869Asp)" "r.(?)" "" "" "" "" "" "-" "0000024115" "00000240" "00" "2606" "0" "2606" "0" "c.2606G>A" "" "p.(Gly869Asp)" "r.(?)" "" "" "" "" "" "-" "0000024115" "00000241" "00" "2606" "0" "2606" "0" "c.2606G>A" "" "p.(Gly869Asp)" "r.(?)" "" "" "" "" "" "-" "0000024115" "00000242" "00" "2606" "0" "2606" "0" "c.2606G>A" "" "p.(Gly869Asp)" "r.(?)" "" "" "" "" "" "-" "0000024115" "00000243" "00" "2606" "0" "2606" "0" "c.2606G>A" "" "p.(Gly869Asp)" "r.(?)" "" "" "" "" "" "-" "0000024115" "00000244" "00" "2606" "0" "2606" "0" "c.2606G>A" "" "p.(Gly869Asp)" "r.(?)" "" "" "" "" "" "-" "0000024116" "00000239" "00" "2493" "0" "2494" "0" "c.2493_2494del" "" "p.(Phe832*)" "r.(?)" "" "" "" "" "" "-" "0000024116" "00000240" "00" "2493" "0" "2494" "0" "c.2493_2494del" "" "p.(Phe832*)" "r.(?)" "" "" "" "" "" "-" "0000024116" "00000241" "00" "2493" "0" "2494" "0" "c.2493_2494del" "" "p.(Phe832*)" "r.(?)" "" "" "" "" "" "-" "0000024116" "00000242" "00" "2493" "0" "2494" "0" "c.2493_2494del" "" "p.(Phe832*)" "r.(?)" "" "" "" "" "" "-" "0000024116" "00000243" "00" "2493" "0" "2494" "0" "c.2493_2494del" "" "p.(Phe832*)" "r.(?)" "" "" "" "" "" "-" "0000024116" "00000244" "00" "2493" "0" "2494" "0" "c.2493_2494del" "" "p.(Phe832*)" "r.(?)" "" "" "" "" "" "-" "0000024117" "00000239" "00" "1832" "0" "1832" "0" "c.1832C>T" "" "p.(Thr611Met)" "r.(?)" "" "" "" "" "" "-" "0000024117" "00000240" "00" "1832" "0" "1832" "0" "c.1832C>T" "" "p.(Thr611Met)" "r.(?)" "" "" "" "" "" "-" "0000024117" "00000241" "00" "1832" "0" "1832" "0" "c.1832C>T" "" "p.(Thr611Met)" "r.(?)" "" "" "" "" "" "-" "0000024117" "00000242" "00" "1832" "0" "1832" "0" "c.1832C>T" "" "p.(Thr611Met)" "r.(?)" "" "" "" "" "" "-" "0000024117" "00000243" "00" "1832" "0" "1832" "0" "c.1832C>T" "" "p.(Thr611Met)" "r.(?)" "" "" "" "" "" "-" "0000024117" "00000244" "00" "1832" "0" "1832" "0" "c.1832C>T" "" "p.(Thr611Met)" "r.(?)" "" "" "" "" "" "-" "0000024118" "00000239" "00" "1825" "1" "1825" "1" "c.1825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024118" "00000240" "00" "1825" "1" "1825" "1" "c.1825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024118" "00000241" "00" "1825" "1" "1825" "1" "c.1825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024118" "00000242" "00" "1825" "1" "1825" "1" "c.1825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024118" "00000243" "00" "1825" "1" "1825" "1" "c.1825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024118" "00000244" "00" "1825" "1" "1825" "1" "c.1825+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024119" "00000239" "00" "1225" "0" "1227" "0" "c.1225_1227del" "" "p.(Asn409del)" "r.(?)" "" "" "" "" "" "-" "0000024119" "00000240" "00" "1225" "0" "1227" "0" "c.1225_1227del" "" "p.(Asn409del)" "r.(?)" "" "" "" "" "" "-" "0000024119" "00000241" "00" "1225" "0" "1227" "0" "c.1225_1227del" "" "p.(Asn409del)" "r.(?)" "" "" "" "" "" "-" "0000024119" "00000242" "00" "1225" "0" "1227" "0" "c.1225_1227del" "" "p.(Asn409del)" "r.(?)" "" "" "" "" "" "-" "0000024119" "00000243" "00" "1225" "0" "1227" "0" "c.1225_1227del" "" "p.(Asn409del)" "r.(?)" "" "" "" "" "" "-" "0000024119" "00000244" "00" "1225" "0" "1227" "0" "c.1225_1227del" "" "p.(Asn409del)" "r.(?)" "" "" "" "" "" "-" "0000024120" "00000239" "00" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024120" "00000240" "00" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024120" "00000241" "00" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024120" "00000242" "00" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024120" "00000243" "00" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024120" "00000244" "00" "1185" "5" "1185" "8" "c.1185+5_1185+8del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024121" "00000239" "00" "1181" "0" "1181" "0" "c.1181T>C" "" "p.(Ile394Thr)" "r.(?)" "" "" "" "" "" "-" "0000024121" "00000240" "00" "1181" "0" "1181" "0" "c.1181T>C" "" "p.(Ile394Thr)" "r.(?)" "" "" "" "" "" "-" "0000024121" "00000241" "00" "1181" "0" "1181" "0" "c.1181T>C" "" "p.(Ile394Thr)" "r.(?)" "" "" "" "" "" "-" "0000024121" "00000242" "00" "1181" "0" "1181" "0" "c.1181T>C" "" "p.(Ile394Thr)" "r.(?)" "" "" "" "" "" "-" "0000024121" "00000243" "00" "1181" "0" "1181" "0" "c.1181T>C" "" "p.(Ile394Thr)" "r.(?)" "" "" "" "" "" "-" "0000024121" "00000244" "00" "1181" "0" "1181" "0" "c.1181T>C" "" "p.(Ile394Thr)" "r.(?)" "" "" "" "" "" "-" "0000024122" "00000239" "00" "1022" "1" "1022" "1" "c.1022+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024122" "00000240" "00" "1022" "1" "1022" "1" "c.1022+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024122" "00000241" "00" "1022" "1" "1022" "1" "c.1022+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024122" "00000242" "00" "1022" "1" "1022" "1" "c.1022+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024122" "00000243" "00" "1022" "1" "1022" "1" "c.1022+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024122" "00000244" "00" "1022" "1" "1022" "1" "c.1022+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024123" "00000239" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Arg269Gln)" "r.(?)" "" "" "" "" "" "-" "0000024123" "00000240" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Arg269Gln)" "r.(?)" "" "" "" "" "" "-" "0000024123" "00000241" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Arg269Gln)" "r.(?)" "" "" "" "" "" "-" "0000024123" "00000242" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Arg269Gln)" "r.(?)" "" "" "" "" "" "-" "0000024123" "00000243" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Arg269Gln)" "r.(?)" "" "" "" "" "" "-" "0000024123" "00000244" "00" "806" "0" "806" "0" "c.806G>A" "" "p.(Arg269Gln)" "r.(?)" "" "" "" "" "" "-" "0000024124" "00000239" "00" "796" "0" "796" "0" "c.796T>G" "" "p.(Ser266Ala)" "r.(?)" "" "" "" "" "" "-" "0000024124" "00000240" "00" "796" "0" "796" "0" "c.796T>G" "" "p.(Ser266Ala)" "r.(?)" "" "" "" "" "" "-" "0000024124" "00000241" "00" "796" "0" "796" "0" "c.796T>G" "" "p.(Ser266Ala)" "r.(?)" "" "" "" "" "" "-" "0000024124" "00000242" "00" "796" "0" "796" "0" "c.796T>G" "" "p.(Ser266Ala)" "r.(?)" "" "" "" "" "" "-" "0000024124" "00000243" "00" "796" "0" "796" "0" "c.796T>G" "" "p.(Ser266Ala)" "r.(?)" "" "" "" "" "" "-" "0000024124" "00000244" "00" "796" "0" "796" "0" "c.796T>G" "" "p.(Ser266Ala)" "r.(?)" "" "" "" "" "" "-" "0000024125" "00000239" "00" "786" "0" "786" "0" "c.786G>T" "" "p.(Glu262Asp)" "r.(?)" "" "" "" "" "" "-" "0000024125" "00000240" "00" "786" "0" "786" "0" "c.786G>T" "" "p.(Glu262Asp)" "r.(?)" "" "" "" "" "" "-" "0000024125" "00000241" "00" "786" "0" "786" "0" "c.786G>T" "" "p.(Glu262Asp)" "r.(?)" "" "" "" "" "" "-" "0000024125" "00000242" "00" "786" "0" "786" "0" "c.786G>T" "" "p.(Glu262Asp)" "r.(?)" "" "" "" "" "" "-" "0000024125" "00000243" "00" "786" "0" "786" "0" "c.786G>T" "" "p.(Glu262Asp)" "r.(?)" "" "" "" "" "" "-" "0000024125" "00000244" "00" "786" "0" "786" "0" "c.786G>T" "" "p.(Glu262Asp)" "r.(?)" "" "" "" "" "" "-" "0000024126" "00000239" "00" "633" "38" "633" "58" "c.633+38_633+58del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024126" "00000240" "00" "633" "38" "633" "58" "c.633+38_633+58del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024126" "00000241" "00" "633" "38" "633" "58" "c.633+38_633+58del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024126" "00000242" "00" "633" "38" "633" "58" "c.633+38_633+58del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024126" "00000243" "00" "633" "38" "633" "58" "c.633+38_633+58del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024126" "00000244" "00" "633" "38" "633" "58" "c.633+38_633+58del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024127" "00000239" "00" "633" "2" "633" "2" "c.633+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024127" "00000240" "00" "633" "2" "633" "2" "c.633+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024127" "00000241" "00" "633" "2" "633" "2" "c.633+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024127" "00000242" "00" "633" "2" "633" "2" "c.633+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024127" "00000243" "00" "633" "2" "633" "2" "c.633+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024127" "00000244" "00" "633" "2" "633" "2" "c.633+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000024128" "00000239" "00" "584" "0" "584" "0" "c.584C>T" "" "" "" "" "" "" "" "" "-" "0000024128" "00000240" "00" "584" "0" "584" "0" "c.584C>T" "" "" "" "" "" "" "" "" "-" "0000024128" "00000241" "00" "584" "0" "584" "0" "c.584C>T" "" "p.(Ala195Val)" "r.(?)" "" "" "" "" "" "-" "0000024128" "00000242" "00" "584" "0" "584" "0" "c.584C>T" "" "p.(Ala195Val)" "r.(?)" "" "" "" "" "" "-" "0000024128" "00000243" "00" "584" "0" "584" "0" "c.584C>T" "" "p.(Ala195Val)" "r.(?)" "" "" "" "" "" "-" "0000024128" "00000244" "00" "584" "0" "584" "0" "c.584C>T" "" "p.(Ala195Val)" "r.(?)" "" "" "" "" "" "-" "0000024129" "00000239" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000024129" "00000240" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000024129" "00000241" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000024129" "00000242" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000024129" "00000243" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000024129" "00000244" "00" "496" "0" "496" "0" "c.496G>A" "" "p.(Val166Ile)" "r.(?)" "" "" "" "" "" "-" "0000024130" "00000239" "00" "372" "0" "375" "0" "c.372_375del" "" "p.(Ala125Thrfs*79)" "r.(?)" "" "" "" "" "" "-" "0000024130" "00000240" "00" "372" "0" "375" "0" "c.372_375del" "" "p.(Ala125Thrfs*79)" "r.(?)" "" "" "" "" "" "-" "0000024130" "00000241" "00" "372" "0" "375" "0" "c.372_375del" "" "p.(Ala125Thrfs*79)" "r.(?)" "" "" "" "" "" "-" "0000024130" "00000242" "00" "372" "0" "375" "0" "c.372_375del" "" "p.(Ala125Thrfs*79)" "r.(?)" "" "" "" "" "" "-" "0000024130" "00000243" "00" "372" "0" "375" "0" "c.372_375del" "" "p.(Ala125Thrfs*79)" "r.(?)" "" "" "" "" "" "-" "0000024130" "00000244" "00" "372" "0" "375" "0" "c.372_375del" "" "p.(Ala125Thrfs*79)" "r.(?)" "" "" "" "" "" "-" "0000024131" "00000239" "00" "52" "0" "52" "0" "c.52C>T" "" "p.(Arg18*)" "r.(?)" "" "" "" "" "" "-" "0000024131" "00000240" "00" "52" "0" "52" "0" "c.52C>T" "" "p.(Arg18*)" "r.(?)" "" "" "" "" "" "-" "0000024131" "00000241" "00" "52" "0" "52" "0" "c.52C>T" "" "p.(Arg18*)" "r.(?)" "" "" "" "" "" "-" "0000024131" "00000242" "00" "52" "0" "52" "0" "c.52C>T" "" "p.(Arg18*)" "r.(?)" "" "" "" "" "" "-" "0000024131" "00000243" "00" "52" "0" "52" "0" "c.52C>T" "" "p.(Arg18*)" "r.(?)" "" "" "" "" "" "-" "0000024131" "00000244" "00" "52" "0" "52" "0" "c.52C>T" "" "p.(Arg18*)" "r.(?)" "" "" "" "" "" "-" "0000024132" "00000239" "00" "1" "-35661" "1" "-35661" "c.1-35661G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024132" "00000242" "00" "1" "-35661" "1" "-35661" "c.1-35661G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024132" "00000243" "00" "1" "-35661" "1" "-35661" "c.1-35661G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000024132" "00000244" "00" "-1" "1" "-1" "1" "c.-1+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0