### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TK2) # 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}}" "TK2" "thymidine kinase 2, mitochondrial" "16" "q22-q23.1" "unknown" "NC_000016.9" "UD_132084722576" "" "" "" "1" "1" "11831" "7084" "188250" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 4 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000329" "TK2" "transcript variant 3" "001" "NM_001172644.1" "" "NP_001166115.1" "" "" "" "-351" "4688" "723" "66584315" "66541906" "00001" "2013-11-07 14:00:56" "" "" "" "16" "00000330" "TK2" "transcript variant 4" "002" "NM_001172645.1" "" "NP_001166116.1" "" "" "" "-351" "4709" "744" "66584315" "66541906" "00001" "2013-11-07 14:00:56" "" "" "" "16" "00000331" "TK2" "transcript variant 1" "003" "NM_004614.4" "" "NP_004605.4" "" "" "" "-351" "4763" "798" "66584315" "66541906" "00001" "2013-11-07 14:00:56" "" "" "" "16" "00000332" "TK2" "transcript variant 2" "004" "NM_001172643.1" "" "NP_001166114.1" "" "" "" "-8" "4670" "705" "66584194" "66541906" "00001" "2013-11-07 14:00:56" "" "" "" "16" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00030" "MTDPS2" "Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)" "609560" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00510" "617069" "?Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3, 617069 (3)" "617069" "" "" "" "00001" "2018-06-25 16:00:00" "00001" "2018-06-25 16:00:00" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TK2" "00030" "TK2" "00510" ## 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 = 125 "{{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}}" "0000000627" "0" "99" "16" "66545909" "66545909" "subst" "35" "0.0000769112" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-09-07 19:42:36" "TK2_000032" "g.66545909G>A" "" "{PMID:23230576:23230576}" "" "rs281865498" "subst" "0" "; clinVar; Ensembl;" "5.110" "" "" "" "" "MSCV_0000627" "" "0000000628" "0" "99" "16" "66547689" "66547689" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:33" "TK2_000001" "g.66547689A>G" "" "{PMID:23230576:23230576}" "" "rs281865497" "subst" "0" "; clinVar; Ensembl;" "4.890" "" "" "" "" "MSCV_0000628" "" "0000000629" "0" "99" "16" "66547698" "66547698" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:33" "TK2_000002" "g.66547698A>T" "" "{PMID:22345218:22345218};{PMID:11687801:11687801};{PMID:23230576:23230576};{PMID:12493767:12493767}" "" "rs137854430" "subst" "0" "; clinVar; Ensembl;" "4.890" "" "" "" "" "MSCV_0000629" "" "0000000630" "0" "99" "16" "66551051" "66551053" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-08-09 11:43:21" "TK2_000003" "g.66551051_66551053del" "" "{PMID:23230576:23230576}" "" "rs281865501" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000630" "" "0000000631" "0" "99" "16" "66551082" "66551082" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:35" "TK2_000004" "g.66551082C>T" "" "{PMID:23230576:23230576}" "" "rs281865496" "subst" "0" "; clinVar; Ensembl;" "5.600" "" "" "" "" "MSCV_0000631" "" "0000000632" "0" "99" "16" "66551095" "66551095" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:35" "TK2_000005" "g.66551095T>C" "" "{PMID:21937588:21937588};{PMID:23230576:23230576}" "" "rs281865495" "subst" "0" "; clinVar; Ensembl;" "4.490" "" "" "" "" "MSCV_0000632" "" "0000000633" "0" "99" "16" "66551110" "66551110" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2016-11-06 02:10:14" "TK2_000006" "g.66551110G>A" "" "{PMID:23230576:23230576};{PMID:21937588:21937588}" "" "rs137886900" "subst" "0" "; clinVar; Ensembl;" "5.600" "" "" "" "" "MSCV_0000633" "" "0000000635" "0" "99" "16" "66551110" "66551110" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:37" "TK2_000007" "g.66551110G>C" "" "{PMID:23230576:23230576};{PMID:21937588:21937588}" "" "rs137886900" "subst" "0" ";" "5.600" "" "" "" "" "MSCV_0000635" "" "0000000636" "0" "99" "16" "66551110" "66551110" "subst" "51" "0.000153822" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 18:08:46" "TK2_000008" "g.66551110G>T" "" "{PMID:23230576:23230576};{PMID:21937588:21937588}" "" "rs137886900" "subst" "0" ";" "5.600" "" "" "" "" "MSCV_0000636" "" "0000000638" "0" "99" "16" "66562930" "66562930" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:38" "TK2_000009" "g.66562930G>A" "" "{PMID:23230576:23230576}" "" "rs281865494" "subst" "0" "; clinVar; Ensembl;" "5.560" "" "" "" "" "MSCV_0000638" "" "0000000639" "0" "99" "16" "66562957" "66562957" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:39" "TK2_000010" "g.66562957C>T" "" "{PMID:23230576:23230576}" "" "rs281865492" "subst" "0" "; clinVar; Ensembl;" "5.560" "" "" "" "" "MSCV_0000639" "" "0000000640" "0" "99" "16" "66562958" "66562958" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 18:08:46" "TK2_000011" "g.66562958G>A" "" "{PMID:23230576:23230576}" "" "rs281865493" "subst" "0" "; clinVar; Ensembl;" "4.610" "" "" "" "" "MSCV_0000640" "" "0000000641" "0" "99" "16" "66565285" "66565285" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2020-04-07 04:37:20" "TK2_000012" "g.66565285G>A" "" "{PMID:23230576:23230576}" "" "rs281865491" "subst" "0" "; clinVar; Ensembl;" "5.740" "" "" "" "" "MSCV_0000641" "" "0000000642" "0" "99" "16" "66565297" "66565298" "delins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:41" "TK2_000014" "g.66565297_66565298delinsTT" "" "{PMID:23230576:23230576}" "" "rs281865507" "delins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000642" "" "0000000644" "0" "99" "16" "66565297" "66565297" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:40" "TK2_000013" "g.66565297G>T" "" "{PMID:11687801:11687801};{PMID:23230576:23230576};{PMID:12493767:12493767};{PMID:22345218:22345218}" "" "rs137854429" "subst" "0" "; clinVar; Ensembl;" "5.000" "" "" "" "" "MSCV_0000644" "" "0000000645" "0" "99" "16" "66565321" "66565322" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:42" "TK2_000015" "g.66565321_66565322insAT" "" "{PMID:23230576:23230576}" "" "rs281865506" "ins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000645" "" "0000000646" "0" "00" "16" "66565322" "66565323" "ins" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 18:08:46" "TK2_000016" "g.66565322_66565323insAT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000646" "" "0000000647" "0" "99" "16" "66565324" "66565324" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:43" "TK2_000017" "g.66565324A>T" "" "{PMID:23230576:23230576}" "" "rs281865490" "subst" "0" "; clinVar; Ensembl;" "5.950" "" "" "" "" "MSCV_0000647" "" "0000000648" "0" "99" "16" "66565335" "66565335" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:44" "TK2_000018" "g.66565335G>A" "" "{PMID:22345218:22345218};{PMID:23230576:23230576};{PMID:12391347:12391347};{PMID:1734306:1734306};{PMID:12873860:12873860}" "" "rs137854431" "subst" "0" "; clinVar; Ensembl;" "4.970" "" "" "" "" "MSCV_0000648" "" "0000000649" "0" "99" "16" "66570874" "66570874" "subst" "35" "0.000153822" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:44" "TK2_000019" "g.66570874T>C" "" "{PMID:23230576:23230576}" "" "rs142291440" "subst" "0" "; clinVar; Ensembl;" "4.210" "" "" "" "" "MSCV_0000649" "" "0000000650" "0" "99" "16" "66570884" "66570884" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:45" "TK2_000020" "g.66570884G>A" "" "{PMID:22345218:22345218};{PMID:23230576:23230576}" "" "rs281865489" "subst" "0" "; clinVar; Ensembl;" "4.350" "" "" "" "" "MSCV_0000650" "" "0000000651" "0" "99" "16" "66575793" "66575794" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:45" "TK2_000021" "g.66575793_66575794insCG" "" "{PMID:23230576:23230576}" "" "rs281865505" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0000651" "" "0000000652" "0" "00" "16" "66575794" "66575795" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:46:46" "TK2_000022" "g.66575794_66575795insCG" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000652" "" "0000000653" "0" "99" "16" "66575815" "66575815" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-10 08:02:15" "TK2_000033" "g.66575815G>A" "" "" "" "NA" "subst" "0" ";" "6.160" "" "" "" "" "MSCV_0000653" "" "0000000654" "0" "99" "16" "66575815" "66575815" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 11:04:31" "TK2_000034" "g.66575815G>C" "" "{PMID:23230576:23230576}" "" "rs281865488" "subst" "0" "; clinVar; Ensembl;" "6.160" "" "" "" "" "MSCV_0000654" "" "0000000655" "0" "99" "16" "66575822" "66575822" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:59:04" "TK2_000027" "g.66575822G>A" "" "{PMID:23230576:23230576}" "" "rs281865487" "subst" "0" "; clinVar; Ensembl;" "6.060" "" "" "" "" "MSCV_0000655" "" "0000000656" "0" "99" "16" "66575840" "66575840" "subst" "51" "0.0000769112" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 18:08:46" "TK2_000028" "g.66575840T>C" "" "{PMID:23230576:23230576}" "" "rs138439950" "subst" "0" "; clinVar; Ensembl;" "6.060" "" "" "" "" "MSCV_0000656" "" "0000000657" "0" "99" "16" "66575854" "66575854" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2021-05-23 22:38:32" "TK2_000029" "g.66575854G>C" "" "{PMID:12391347:12391347};{PMID:22345218:22345218};{PMID:23230576:23230576}" "" "rs137854432" "subst" "0" "; clinVar; Ensembl;" "3.570" "" "" "" "" "MSCV_0000657" "" "0000000658" "0" "99" "16" "66582879" "66582879" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 18:08:46" "TK2_000030" "g.66582879A>G" "" "{PMID:23230576:23230576}" "" "rs281865499" "subst" "0" "; clinVar; Ensembl;" "4.230" "" "" "" "" "MSCV_0000658" "" "0000000659" "0" "99" "16" "66582886" "66582887" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:59:08" "TK2_000031" "g.66582886_66582887insT" "" "{PMID:23230576:23230576}" "" "rs281865504" "ins" "0" "; clinVar;" "" "" "" "" "" "MSCV_0000659" "" "0000000660" "0" "99" "16" "66582894" "66582895" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:12" "TK2_000023" "g.66582894_66582895insC" "" "{PMID:23230576:23230576}" "" "rs281865503" "ins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000660" "" "0000000661" "0" "99" "16" "66582904" "66582904" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:13" "TK2_000024" "g.66582904G>A" "" "{PMID:23230576:23230576}" "" "rs281865486" "subst" "0" "; clinVar; Ensembl;" "3.360" "" "" "" "" "MSCV_0000661" "" "0000000662" "0" "99" "16" "66582905" "66582908" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-04-30 12:29:37" "TK2_000025" "g.66582905_66582908del" "" "{PMID:23230576:23230576}" "" "rs281865500" "del" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000662" "" "0000000663" "0" "99" "16" "66583956" "66583957" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:50:14" "TK2_000026" "g.66583956_66583957insA" "" "{PMID:23230576:23230576}" "" "rs281865502" "ins" "0" "; clinVar; Ensembl;" "" "" "" "" "" "MSCV_0000663" "" "0000002599" "0" "00" "16" "66581673" "66581673" "del" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2014-09-16 11:44:16" "TK2_000035" "g.66581673del" "" "" "" "" "del" "0" ";" "-0.485" "" "" "" "" "MSCV_0002599" "" "0000005245" "0" "99" "16" "66565321" "66565322" "ins" "51" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2021-05-23 22:38:32" "TK2_000015" "g.66565321_66565322insAT" "" "{PMID:23230576:23230576}" "" "rs281865506" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005245" "" "0000005246" "0" "99" "16" "66575793" "66575794" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:22" "TK2_000021" "g.66575793_66575794insCG" "" "{PMID:23230576:23230576}" "" "rs281865505" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005246" "" "0000005247" "0" "99" "16" "66582886" "66582887" "ins" "35" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2015-03-12 18:46:24" "TK2_000031" "g.66582886_66582887insT" "" "{PMID:23230576:23230576}" "" "rs281865504" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005247" "" "0000005248" "0" "99" "16" "66582894" "66582895" "ins" "51" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2021-05-23 22:38:32" "TK2_000023" "g.66582894_66582895insC" "" "{PMID:23230576:23230576}" "" "rs281865503" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005248" "" "0000005249" "0" "99" "16" "66583956" "66583957" "ins" "51" "0" "00000" "9" "00001" "2015-03-12 18:41:14" "00000" "2021-05-18 06:09:01" "TK2_000026" "g.66583956_66583957insA" "" "{PMID:23230576:23230576}" "" "rs281865502" "ins" "0" "; ensembl;" "" "" "" "" "" "MSCV_0005249" "" "0000017809" "0" "33" "16" "66542085" "66542085" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:07:48" "TK2_000089" "g.66542085G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017809" "" "0000017810" "0" "55" "16" "66542108" "66542108" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:35" "TK2_000078" "g.66542108C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017810" "" "0000017811" "0" "55" "16" "66542433" "66542433" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:39" "TK2_000079" "g.66542433C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017811" "" "0000017812" "0" "55" "16" "66542678" "66542678" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:43" "TK2_000080" "g.66542678C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017812" "" "0000017813" "0" "33" "16" "66542957" "66542957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:49" "TK2_000081" "g.66542957G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017813" "" "0000017814" "0" "55" "16" "66542969" "66542969" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:53" "TK2_000082" "g.66542969G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017814" "" "0000017815" "0" "55" "16" "66543098" "66543098" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:43:56" "TK2_000083" "g.66543098G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017815" "" "0000017816" "0" "55" "16" "66543421" "66543421" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:00" "TK2_000084" "g.66543421T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017816" "" "0000017817" "0" "33" "16" "66543452" "66543452" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:04" "TK2_000085" "g.66543452G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017817" "" "0000017818" "0" "55" "16" "66543573" "66543573" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:08" "TK2_000086" "g.66543573G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017818" "" "0000017819" "0" "11" "16" "66543650" "66543650" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:12" "TK2_000087" "g.66543650A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017819" "" "0000017820" "0" "55" "16" "66543749" "66543749" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:44:15" "TK2_000088" "g.66543749C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017820" "" "0000017821" "0" "55" "16" "66544112" "66544113" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:38" "TK2_000076" "g.66544112_66544113insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017821" "" "0000017822" "0" "55" "16" "66544112" "66544113" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:33:42" "TK2_000077" "g.66544112_66544113insAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017822" "" "0000017823" "0" "00" "16" "66544113" "66544113" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:03" "TK2_000058" "g.66544113del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017823" "" "0000017824" "0" "00" "16" "66544113" "66544114" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:06" "TK2_000059" "g.66544113_66544114insAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017824" "" "0000017825" "0" "55" "16" "66544131" "66544132" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:13" "TK2_000061" "g.66544131_66544132insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017825" "" "0000017826" "0" "55" "16" "66544131" "66544131" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:10" "TK2_000060" "g.66544131A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017826" "" "0000017827" "0" "55" "16" "66544133" "66544133" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:17" "TK2_000062" "g.66544133G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017827" "" "0000017828" "0" "55" "16" "66544189" "66544189" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 06:14:07" "TK2_000063" "g.66544189A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017828" "" "0000017829" "0" "55" "16" "66544190" "66544190" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:24" "TK2_000064" "g.66544190T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017829" "" "0000017830" "0" "55" "16" "66544253" "66544253" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:27" "TK2_000065" "g.66544253G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017830" "" "0000017831" "0" "00" "16" "66544279" "66544280" "ins" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 19:50:25" "TK2_000066" "g.66544279_66544280insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017831" "" "0000017832" "0" "55" "16" "66544399" "66544399" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:34" "TK2_000067" "g.66544399T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017832" "" "0000017833" "0" "55" "16" "66544416" "66544416" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:38" "TK2_000068" "g.66544416G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017833" "" "0000017834" "0" "55" "16" "66544428" "66544428" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-24 09:49:13" "TK2_000040" "g.66544428G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017834" "" "0000017835" "0" "55" "16" "66544468" "66544468" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:50" "TK2_000041" "g.66544468T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017835" "" "0000017836" "0" "55" "16" "66544538" "66544538" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:54" "TK2_000042" "g.66544538C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017836" "" "0000017837" "0" "55" "16" "66544827" "66544827" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:46:58" "TK2_000043" "g.66544827G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017837" "" "0000017838" "0" "55" "16" "66544950" "66544950" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:01" "TK2_000044" "g.66544950C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017838" "" "0000017839" "0" "55" "16" "66545038" "66545038" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-27 19:50:26" "TK2_000045" "g.66545038A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017839" "" "0000017840" "0" "55" "16" "66545062" "66545062" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:08" "TK2_000046" "g.66545062G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017840" "" "0000017841" "0" "11" "16" "66545106" "66545106" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 18:48:36" "TK2_000047" "g.66545106A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017841" "" "0000017842" "0" "55" "16" "66545183" "66545183" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:34" "TK2_000048" "g.66545183G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017842" "" "0000017843" "0" "55" "16" "66545256" "66545256" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:38" "TK2_000049" "g.66545256T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017843" "" "0000017844" "0" "55" "16" "66545276" "66545276" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-06-22 11:37:50" "TK2_000050" "g.66545276C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017844" "" "0000017845" "0" "55" "16" "66545386" "66545386" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:48" "TK2_000051" "g.66545386G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017845" "" "0000017846" "0" "55" "16" "66545420" "66545420" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:51" "TK2_000052" "g.66545420C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017846" "" "0000017847" "0" "55" "16" "66545427" "66545427" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:47:55" "TK2_000053" "g.66545427C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017847" "" "0000017848" "0" "55" "16" "66545529" "66545529" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:12" "TK2_000054" "g.66545529G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017848" "" "0000017849" "0" "99" "16" "66545909" "66545909" "subst" "35" "0.0000769112" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:16" "TK2_000032" "g.66545909G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000627" "" "0000017850" "0" "33" "16" "66545982" "66545982" "subst" "51" "0.122827" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 22:41:31" "TK2_000055" "g.66545982C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017850" "" "0000017851" "0" "00" "16" "66547625" "66547628" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:30" "TK2_000056" "g.66547625_66547628del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017851" "" "0000017852" "0" "55" "16" "66547653" "66547653" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:34" "TK2_000057" "g.66547653G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017852" "" "0000017853" "0" "99" "16" "66547689" "66547689" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 22:41:31" "TK2_000001" "g.66547689A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000628" "" "0000017854" "0" "99" "16" "66547698" "66547698" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-06 22:41:31" "TK2_000002" "g.66547698A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000629" "" "0000017855" "0" "99" "16" "66551051" "66551053" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:45" "TK2_000003" "g.66551051_66551053del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000630" "" "0000017856" "0" "99" "16" "66551082" "66551082" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:51" "TK2_000004" "g.66551082C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000631" "" "0000017857" "0" "99" "16" "66551095" "66551095" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:48:55" "TK2_000005" "g.66551095T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000632" "" "0000017858" "0" "99" "16" "66551110" "66551110" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 05:48:45" "TK2_000007" "g.66551110G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000635" "" "0000017859" "0" "99" "16" "66551110" "66551110" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-30 01:32:28" "TK2_000006" "g.66551110G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000633" "" "0000017860" "0" "55" "16" "66551793" "66551793" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-24 09:48:35" "TK2_000069" "g.66551793T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017860" "" "0000017861" "0" "99" "16" "66562930" "66562930" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 18:08:46" "TK2_000009" "g.66562930G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000638" "" "0000017862" "0" "99" "16" "66562957" "66562957" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:18:59" "TK2_000010" "g.66562957C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000639" "" "0000017863" "0" "99" "16" "66562958" "66562958" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 22:38:32" "TK2_000011" "g.66562958G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000640" "" "0000017864" "0" "99" "16" "66565285" "66565285" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 18:08:46" "TK2_000012" "g.66565285G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000641" "" "0000017865" "0" "99" "16" "66565297" "66565297" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:48" "TK2_000013" "g.66565297G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000644" "" "0000017866" "0" "99" "16" "66565297" "66565298" "delins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:52" "TK2_000014" "g.66565297_66565298delinsTT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000642" "" "0000017867" "0" "99" "16" "66565321" "66565322" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:19:56" "TK2_000015" "g.66565321_66565322insAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000645" "" "0000017868" "0" "99" "16" "66565324" "66565324" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-23 22:38:32" "TK2_000017" "g.66565324A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000647" "" "0000017869" "0" "99" "16" "66565335" "66565335" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 16:15:24" "TK2_000018" "g.66565335G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000648" "" "0000017870" "0" "55" "16" "66565370" "66565370" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 18:08:46" "TK2_000036" "g.66565370G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017870" "" "0000017871" "0" "99" "16" "66570874" "66570874" "subst" "35" "0.000153822" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:11" "TK2_000019" "g.66570874T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000649" "" "0000017872" "0" "77" "16" "66570884" "66570884" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:29" "TK2_000020" "g.66570884G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000650" "" "0000017873" "0" "33" "16" "66575772" "66575772" "subst" "35" "0.00669128" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:32" "TK2_000037" "g.66575772G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017873" "" "0000017874" "0" "99" "16" "66575793" "66575794" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:36" "TK2_000021" "g.66575793_66575794insCG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000651" "" "0000017875" "0" "99" "16" "66575815" "66575815" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:39" "TK2_000034" "g.66575815G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000654" "" "0000017876" "0" "99" "16" "66575822" "66575822" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 18:08:46" "TK2_000027" "g.66575822G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000655" "" "0000017877" "0" "77" "16" "66575840" "66575840" "subst" "51" "0.0000769112" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 18:08:46" "TK2_000028" "g.66575840T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000656" "" "0000017878" "0" "99" "16" "66575854" "66575854" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:50" "TK2_000029" "g.66575854G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000657" "" "0000017879" "0" "33" "16" "66575868" "66575868" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-24 09:49:22" "TK2_000038" "g.66575868C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017879" "" "0000017880" "0" "33" "16" "66582866" "66582866" "subst" "35" "0.067605" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:20:57" "TK2_000039" "g.66582866A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017880" "" "0000017881" "0" "99" "16" "66582879" "66582879" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-24 09:49:02" "TK2_000030" "g.66582879A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000658" "" "0000017882" "0" "99" "16" "66582886" "66582887" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:31" "TK2_000031" "g.66582886_66582887insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000659" "" "0000017883" "0" "99" "16" "66582894" "66582895" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-09-07 06:19:53" "TK2_000023" "g.66582894_66582895insC" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000660" "" "0000017884" "0" "99" "16" "66582905" "66582908" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 21:21:45" "TK2_000025" "g.66582905_66582908del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000662" "" "0000017885" "0" "99" "16" "66582904" "66582904" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 18:08:46" "TK2_000024" "g.66582904G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000661" "" "0000017886" "0" "55" "16" "66583835" "66583835" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-24 09:49:49" "TK2_000070" "g.66583835C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017886" "" "0000017887" "0" "33" "16" "66583871" "66583871" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-01 16:07:32" "TK2_000071" "g.66583871G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017887" "" "0000017888" "0" "99" "16" "66583956" "66583957" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:24:58" "TK2_000026" "g.66583956_66583957insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000663" "" "0000017889" "0" "11" "16" "66583994" "66583994" "subst" "35" "0.0352509" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-24 09:49:32" "TK2_000072" "g.66583994G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017889" "" "0000017890" "0" "11" "16" "66584002" "66584002" "subst" "35" "0.235662" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:05" "TK2_000073" "g.66584002T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017890" "" "0000017891" "0" "55" "16" "66584012" "66584012" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-20 23:49:21" "TK2_000074" "g.66584012C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017891" "" "0000017892" "0" "55" "16" "66584180" "66584180" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:25:13" "TK2_000075" "g.66584180C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0017892" "" "0000025292" "0" "00" "16" "66583843" "66583843" "subst" "51" "0.000849618" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2023-05-01 16:07:32" "TK2_000090" "g.66583843G>T" "" "" "" "" "" "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 = 482 "{{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}}" "0000000627" "00000329" "99" "685" "0" "685" "0" "c.685C>T" "9/9" "p.(Arg229*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000627" "00000330" "99" "706" "0" "706" "0" "c.706C>T" "9/9" "p.(Arg236*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000627" "00000331" "99" "760" "0" "760" "0" "c.760C>T" "10/10" "p.(Arg254*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000627" "00000332" "99" "667" "0" "667" "0" "c.667C>T" "10/10" "p.(Arg223*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000628" "00000329" "99" "569" "0" "569" "0" "c.569T>C" "8/9" "p.(Leu190Pro)" "r.(?)" "probably_damaging(0.995)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000628" "00000330" "99" "590" "0" "590" "0" "c.590T>C" "8/9" "p.(Leu197Pro)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000628" "00000331" "99" "644" "0" "644" "0" "c.644T>C" "9/10" "p.(Leu215Pro)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000628" "00000332" "99" "551" "0" "551" "0" "c.551T>C" "9/10" "p.(Leu184Pro)" "r.(?)" "probably_damaging(0.986)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000629" "00000329" "99" "560" "0" "560" "0" "c.560T>A" "8/9" "p.(Ile187Asn)" "r.(?)" "probably_damaging(0.971)" "" "missense_variant" "" "" "deleterious(0)" "0000000629" "00000330" "99" "581" "0" "581" "0" "c.581T>A" "8/9" "p.(Ile194Asn)" "r.(?)" "probably_damaging(0.932)" "" "missense_variant" "" "" "deleterious(0)" "0000000629" "00000331" "99" "635" "0" "635" "0" "c.635T>A" "9/10" "p.(Ile212Asn)" "r.(?)" "probably_damaging(0.954)" "" "missense_variant" "" "" "deleterious(0)" "0000000629" "00000332" "99" "542" "0" "542" "0" "c.542T>A" "9/10" "p.(Ile181Asn)" "r.(?)" "probably_damaging(0.921)" "" "missense_variant" "" "" "deleterious(0)" "0000000630" "00000329" "99" "531" "0" "529" "0" "c.529_531del" "" "p.(Lys177del)" "r.(?)" "" "" "" "" "" "-" "0000000630" "00000330" "99" "552" "0" "550" "0" "c.550_552del" "" "p.(Lys184del)" "r.(?)" "" "" "" "" "" "-" "0000000630" "00000331" "99" "606" "0" "604" "0" "c.604_606del" "" "p.(Lys202del)" "r.(?)" "" "" "" "" "" "-" "0000000630" "00000332" "99" "513" "0" "511" "0" "c.511_513del" "" "p.(Lys171del)" "r.(?)" "" "" "" "" "" "-" "0000000631" "00000329" "99" "500" "0" "500" "0" "c.500G>A" "7/9" "p.(Arg167Lys)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000631" "00000330" "99" "521" "0" "521" "0" "c.521G>A" "7/9" "p.(Arg174Lys)" "r.(?)" "probably_damaging(0.988)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000631" "00000331" "99" "575" "0" "575" "0" "c.575G>A" "8/10" "p.(Arg192Lys)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000631" "00000332" "99" "482" "0" "482" "0" "c.482G>A" "8/10" "p.(Arg161Lys)" "r.(?)" "probably_damaging(0.973)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000632" "00000329" "99" "487" "0" "487" "0" "c.487A>G" "7/9" "p.(Thr163Ala)" "r.(?)" "benign(0.057)" "" "missense_variant" "" "" "tolerated(0.1)" "0000000632" "00000330" "99" "508" "0" "508" "0" "c.508A>G" "7/9" "p.(Thr170Ala)" "r.(?)" "benign(0.057)" "" "missense_variant" "" "" "tolerated(0.14)" "0000000632" "00000331" "99" "562" "0" "562" "0" "c.562A>G" "8/10" "p.(Thr188Ala)" "r.(?)" "benign(0.057)" "" "missense_variant" "" "" "tolerated(0.15)" "0000000632" "00000332" "99" "469" "0" "469" "0" "c.469A>G" "8/10" "p.(Thr157Ala)" "r.(?)" "benign(0.029)" "" "missense_variant" "" "" "tolerated(0.15)" "0000000633" "00000329" "99" "472" "0" "472" "0" "c.472C>T" "7/9" "p.(Arg158Trp)" "r.(?)" "probably_damaging(0.949)" "" "missense_variant" "" "" "deleterious(0)" "0000000633" "00000330" "99" "493" "0" "493" "0" "c.493C>T" "7/9" "p.(Arg165Trp)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0)" "0000000633" "00000331" "99" "547" "0" "547" "0" "c.547C>T" "8/10" "p.(Arg183Trp)" "r.(?)" "probably_damaging(0.967)" "" "missense_variant" "" "" "deleterious(0)" "0000000633" "00000332" "99" "454" "0" "454" "0" "c.454C>T" "8/10" "p.(Arg152Trp)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000000635" "00000329" "00" "472" "0" "472" "0" "c.472C>G" "7/9" "p.(Arg158Gly)" "r.(?)" "possibly_damaging(0.836)" "" "missense_variant" "" "" "deleterious(0)" "0000000635" "00000330" "00" "493" "0" "493" "0" "c.493C>G" "7/9" "p.(Arg165Gly)" "r.(?)" "possibly_damaging(0.844)" "" "missense_variant" "" "" "deleterious(0)" "0000000635" "00000331" "00" "547" "0" "547" "0" "c.547C>G" "8/10" "p.(Arg183Gly)" "r.(?)" "possibly_damaging(0.844)" "" "missense_variant" "" "" "deleterious(0)" "0000000635" "00000332" "00" "454" "0" "454" "0" "c.454C>G" "8/10" "p.(Arg152Gly)" "r.(?)" "possibly_damaging(0.758)" "" "missense_variant" "" "" "deleterious(0)" "0000000636" "00000329" "00" "472" "0" "472" "0" "c.472C>A" "7/9" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000636" "00000330" "00" "493" "0" "493" "0" "c.493C>A" "7/9" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000636" "00000331" "00" "547" "0" "547" "0" "c.547C>A" "8/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000636" "00000332" "00" "454" "0" "454" "0" "c.454C>A" "8/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000638" "00000329" "99" "341" "0" "341" "0" "c.341C>T" "5/9" "p.(Ala114Val)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000638" "00000330" "99" "362" "0" "362" "0" "c.362C>T" "5/9" "p.(Ala121Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000638" "00000331" "99" "416" "0" "416" "0" "c.416C>T" "6/10" "p.(Ala139Val)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000638" "00000332" "99" "323" "0" "323" "0" "c.323C>T" "6/10" "p.(Ala108Val)" "r.(?)" "probably_damaging(0.987)" "" "missense_variant" "" "" "deleterious(0)" "0000000639" "00000329" "99" "314" "0" "314" "0" "c.314G>A" "5/9" "p.(Arg105Gln)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "tolerated(0.1)" "0000000639" "00000330" "99" "335" "0" "335" "0" "c.335G>A" "5/9" "p.(Arg112Gln)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000639" "00000331" "99" "389" "0" "389" "0" "c.389G>A" "6/10" "p.(Arg130Gln)" "r.(?)" "probably_damaging(0.971)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000639" "00000332" "99" "296" "0" "296" "0" "c.296G>A" "6/10" "p.(Arg99Gln)" "r.(?)" "probably_damaging(0.935)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000640" "00000329" "99" "313" "0" "313" "0" "c.313C>T" "5/9" "p.(Arg105Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000640" "00000330" "99" "334" "0" "334" "0" "c.334C>T" "5/9" "p.(Arg112Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000640" "00000331" "99" "388" "0" "388" "0" "c.388C>T" "6/10" "p.(Arg130Trp)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000640" "00000332" "99" "295" "0" "295" "0" "c.295C>T" "6/10" "p.(Arg99Trp)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000641" "00000329" "99" "298" "0" "298" "0" "c.298C>T" "4/9" "p.(Gln100*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000000641" "00000330" "99" "319" "0" "319" "0" "c.319C>T" "4/9" "p.(Gln107*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000000641" "00000331" "99" "373" "0" "373" "0" "c.373C>T" "5/10" "p.(Gln125*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000000641" "00000332" "99" "280" "0" "280" "0" "c.280C>T" "5/10" "p.(Gln94*)" "r.(?)" "-" "" "stop_gained,splice_region_variant" "" "" "-" "0000000642" "00000329" "99" "286" "0" "285" "0" "c.285_286delinsAA" "" "p.(His96Asn)" "r.(?)" "" "" "" "" "" "-" "0000000642" "00000330" "99" "307" "0" "306" "0" "c.306_307delinsAA" "" "p.(His103Asn)" "r.(?)" "" "" "" "" "" "-" "0000000642" "00000331" "99" "361" "0" "360" "0" "c.360_361delinsAA" "" "p.(His121Asn)" "r.(?)" "" "" "" "" "" "-" "0000000642" "00000332" "99" "268" "0" "267" "0" "c.267_268delinsAA" "" "p.(His90Asn)" "r.(?)" "" "" "" "" "" "-" "0000000644" "00000329" "99" "286" "0" "286" "0" "c.286C>A" "4/9" "p.(His96Asn)" "r.(?)" "probably_damaging(0.92)" "" "missense_variant" "" "" "deleterious(0)" "0000000644" "00000330" "99" "307" "0" "307" "0" "c.307C>A" "4/9" "p.(His103Asn)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000000644" "00000331" "99" "361" "0" "361" "0" "c.361C>A" "5/10" "p.(His121Asn)" "r.(?)" "probably_damaging(0.976)" "" "missense_variant" "" "" "deleterious(0)" "0000000644" "00000332" "99" "268" "0" "268" "0" "c.268C>A" "5/10" "p.(His90Asn)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "deleterious(0)" "0000000645" "00000331" "99" "337" "0" "336" "0" "c.336_337insAT" "" "p.(Val113Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000000646" "00000329" "00" "261" "0" "260" "0" "c.260_261insAT" "4/9" "p.(Tyr87*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000000646" "00000330" "00" "282" "0" "281" "0" "c.281_282insAT" "4/9" "p.(Tyr94*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000000646" "00000331" "00" "336" "0" "335" "0" "c.335_336insAT" "5/10" "p.(Tyr112*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000000646" "00000332" "00" "243" "0" "242" "0" "c.242_243insAT" "5/10" "p.(Tyr81*)" "r.(?)" "-" "" "stop_gained,frameshift_variant" "" "" "-" "0000000647" "00000329" "99" "259" "0" "259" "0" "c.259T>A" "4/9" "p.(Tyr87Asn)" "r.(?)" "probably_damaging(0.996)" "" "missense_variant" "" "" "deleterious(0)" "0000000647" "00000330" "99" "280" "0" "280" "0" "c.280T>A" "4/9" "p.(Tyr94Asn)" "r.(?)" "probably_damaging(0.98)" "" "missense_variant" "" "" "deleterious(0)" "0000000647" "00000331" "99" "334" "0" "334" "0" "c.334T>A" "5/10" "p.(Tyr112Asn)" "r.(?)" "probably_damaging(0.966)" "" "missense_variant" "" "" "deleterious(0)" "0000000647" "00000332" "99" "241" "0" "241" "0" "c.241T>A" "5/10" "p.(Tyr81Asn)" "r.(?)" "probably_damaging(0.972)" "" "missense_variant" "" "" "deleterious(0)" "0000000648" "00000329" "99" "248" "0" "248" "0" "c.248C>T" "4/9" "p.(Thr83Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "tolerated(0.08)" "0000000648" "00000330" "99" "269" "0" "269" "0" "c.269C>T" "4/9" "p.(Thr90Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "deleterious(0.05)" "0000000648" "00000331" "99" "323" "0" "323" "0" "c.323C>T" "5/10" "p.(Thr108Met)" "r.(?)" "probably_damaging(0.97)" "" "missense_variant" "" "" "tolerated(0.09)" "0000000648" "00000332" "99" "230" "0" "230" "0" "c.230C>T" "5/10" "p.(Thr77Met)" "r.(?)" "probably_damaging(0.979)" "" "missense_variant" "" "" "tolerated(0.12)" "0000000649" "00000329" "99" "203" "0" "203" "0" "c.203A>G" "3/9" "p.(Asn68Ser)" "r.(?)" "benign(0.256)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000649" "00000330" "99" "231" "4908" "231" "4908" "c.231+4908A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000649" "00000331" "99" "278" "0" "278" "0" "c.278A>G" "4/10" "p.(Asn93Ser)" "r.(?)" "possibly_damaging(0.45)" "" "missense_variant" "" "" "deleterious(0.01)" "0000000649" "00000332" "99" "185" "0" "185" "0" "c.185A>G" "4/10" "p.(Asn62Ser)" "r.(?)" "possibly_damaging(0.559)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000650" "00000329" "99" "193" "0" "193" "0" "c.193C>T" "3/9" "p.(Arg65Cys)" "r.(?)" "benign(0.014)" "" "missense_variant" "" "" "tolerated(0.06)" "0000000650" "00000330" "99" "231" "4898" "231" "4898" "c.231+4898C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000650" "00000331" "99" "268" "0" "268" "0" "c.268C>T" "4/10" "p.(Arg90Cys)" "r.(?)" "benign(0.021)" "" "missense_variant" "" "" "tolerated(0.07)" "0000000650" "00000332" "99" "175" "0" "175" "0" "c.175C>T" "4/10" "p.(Arg59Cys)" "r.(?)" "benign(0.021)" "" "missense_variant" "" "" "tolerated(0.09)" "0000000651" "00000331" "99" "220" "0" "219" "0" "c.219_220insCG" "" "p.(Thr74Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000000652" "00000329" "00" "157" "-4874" "157" "-4875" "c.157-4875_157-4874insCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000652" "00000330" "00" "219" "0" "218" "0" "c.218_219insCG" "3/10" "p.(Thr74Glyfs*7)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000652" "00000331" "00" "219" "0" "218" "0" "c.218_219insCG" "3/10" "p.(Thr74Glyfs*7)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000652" "00000332" "00" "126" "0" "125" "0" "c.125_126insCG" "3/10" "p.(Thr43Glyfs*7)" "r.(?)" "-" "" "frameshift_variant" "" "" "-" "0000000653" "00000329" "00" "157" "-4895" "157" "-4895" "c.157-4895C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000653" "00000330" "00" "198" "0" "198" "0" "c.198C>T" "3/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000653" "00000331" "00" "198" "0" "198" "0" "c.198C>T" "3/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000653" "00000332" "00" "105" "0" "105" "0" "c.105C>T" "3/10" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000654" "00000329" "99" "157" "-4895" "157" "-4895" "c.157-4895C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000654" "00000330" "99" "198" "0" "198" "0" "c.198C>G" "3/10" "p.(Cys66Trp)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "tolerated(0.16)" "0000000654" "00000331" "99" "198" "0" "198" "0" "c.198C>G" "3/10" "p.(Cys66Trp)" "r.(?)" "probably_damaging(0.984)" "" "missense_variant" "" "" "tolerated(0.16)" "0000000654" "00000332" "99" "105" "0" "105" "0" "c.105C>G" "3/10" "p.(Cys35Trp)" "r.(?)" "probably_damaging(0.944)" "" "missense_variant" "" "" "tolerated(0.17)" "0000000655" "00000329" "99" "157" "-4902" "157" "-4902" "c.157-4902C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000655" "00000330" "99" "191" "0" "191" "0" "c.191C>T" "3/10" "p.(Thr64Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "deleterious(0)" "0000000655" "00000331" "99" "191" "0" "191" "0" "c.191C>T" "3/10" "p.(Thr64Met)" "r.(?)" "probably_damaging(0.978)" "" "missense_variant" "" "" "deleterious(0)" "0000000655" "00000332" "99" "98" "0" "98" "0" "c.98C>T" "3/10" "p.(Thr33Met)" "r.(?)" "probably_damaging(0.99)" "" "missense_variant" "" "" "deleterious(0)" "0000000656" "00000329" "99" "157" "-4920" "157" "-4920" "c.157-4920A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000656" "00000330" "99" "173" "0" "173" "0" "c.173A>G" "3/10" "p.(Asn58Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000656" "00000331" "99" "173" "0" "173" "0" "c.173A>G" "3/10" "p.(Asn58Ser)" "r.(?)" "probably_damaging(0.998)" "" "missense_variant" "" "" "deleterious(0)" "0000000656" "00000332" "99" "80" "0" "80" "0" "c.80A>G" "3/10" "p.(Asn27Ser)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000657" "00000329" "99" "157" "-4934" "157" "-4934" "c.157-4934C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000657" "00000330" "99" "159" "0" "159" "0" "c.159C>G" "3/10" "p.(Ile53Met)" "r.(?)" "possibly_damaging(0.863)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000657" "00000331" "99" "159" "0" "159" "0" "c.159C>G" "3/10" "p.(Ile53Met)" "r.(?)" "possibly_damaging(0.863)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000657" "00000332" "99" "66" "0" "66" "0" "c.66C>G" "3/10" "p.(Ile22Met)" "r.(?)" "probably_damaging(0.935)" "" "missense_variant,splice_region_variant" "" "" "deleterious(0)" "0000000658" "00000329" "99" "156" "2" "156" "2" "c.156+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000658" "00000330" "99" "156" "2" "156" "2" "c.156+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000658" "00000331" "99" "156" "2" "156" "2" "c.156+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000658" "00000332" "99" "63" "2" "63" "2" "c.63+2T>C" "-" "p.?" "r.spl?" "-" "" "splice_donor_variant" "" "" "-" "0000000659" "00000331" "99" "151" "0" "150" "0" "c.150_151insA" "" "p.(Ser51Ilefs*99)" "r.(?)" "" "" "" "" "" "-" "0000000660" "00000331" "99" "143" "0" "142" "0" "c.142_143insG" "" "p.(Glu48Glyfs*102)" "r.(?)" "" "" "" "" "" "-" "0000000661" "00000329" "99" "133" "0" "133" "0" "c.133C>T" "2/9" "p.(Gln45*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000661" "00000330" "99" "133" "0" "133" "0" "c.133C>T" "2/9" "p.(Gln45*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000661" "00000331" "99" "133" "0" "133" "0" "c.133C>T" "2/9" "p.(Gln45*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000661" "00000332" "99" "40" "0" "40" "0" "c.40C>T" "2/10" "p.(Gln14*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000662" "00000329" "99" "132" "0" "129" "0" "c.129_132del" "" "p.(Lys43Asnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000000662" "00000330" "99" "132" "0" "129" "0" "c.129_132del" "" "p.(Lys43Asnfs*9)" "r.(?)" "" "" "" "" "" "-" "0000000662" "00000331" "99" "132" "0" "129" "0" "c.129_132del" "" "p.(Lys43Asnfs*9)" "r.(?)" "" "" "" "" "" "-" "0000000662" "00000332" "99" "39" "0" "36" "0" "c.36_39del" "" "p.(Lys12Asnfs*9)" "r.(?)" "" "" "" "" "" "-" "0000000663" "00000331" "99" "9" "0" "8" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000002599" "00000331" "00" "156" "1208" "156" "1208" "c.156+1208del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005245" "00000329" "00" "262" "0" "261" "0" "c.261_262insAT" "" "p.(Val88Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000005245" "00000330" "00" "283" "0" "282" "0" "c.282_283insAT" "" "p.(Val95Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000005245" "00000331" "00" "337" "0" "336" "0" "c.336_337insAT" "" "p.(Val113Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000005245" "00000332" "00" "244" "0" "243" "0" "c.243_244insAT" "" "p.(Val82Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000005246" "00000329" "00" "157" "-4873" "157" "-4874" "c.157-4874_157-4873insCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000005246" "00000330" "00" "220" "0" "219" "0" "c.219_220insCG" "" "p.(Thr74Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000005246" "00000331" "00" "220" "0" "219" "0" "c.219_220insCG" "" "p.(Thr74Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000005246" "00000332" "00" "127" "0" "126" "0" "c.126_127insCG" "" "p.(Thr43Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000005247" "00000329" "00" "151" "0" "150" "0" "c.150_151insA" "" "p.(Ser51Ilefs*74)" "r.(?)" "" "" "" "" "" "-" "0000005247" "00000330" "00" "151" "0" "150" "0" "c.150_151insA" "" "p.(Ser51Ilefs*81)" "r.(?)" "" "" "" "" "" "-" "0000005247" "00000331" "00" "151" "0" "150" "0" "c.150_151insA" "" "p.(Ser51Ilefs*99)" "r.(?)" "" "" "" "" "" "-" "0000005247" "00000332" "00" "58" "0" "57" "0" "c.57_58insA" "" "p.(Ser20Ilefs*99)" "r.(?)" "" "" "" "" "" "-" "0000005248" "00000329" "00" "143" "0" "142" "0" "c.142_143insG" "" "p.(Glu48Glyfs*77)" "r.(?)" "" "" "" "" "" "-" "0000005248" "00000330" "00" "143" "0" "142" "0" "c.142_143insG" "" "p.(Glu48Glyfs*84)" "r.(?)" "" "" "" "" "" "-" "0000005248" "00000331" "00" "143" "0" "142" "0" "c.142_143insG" "" "p.(Glu48Glyfs*102)" "r.(?)" "" "" "" "" "" "-" "0000005248" "00000332" "00" "50" "0" "49" "0" "c.49_50insG" "" "p.(Glu17Glyfs*102)" "r.(?)" "" "" "" "" "" "-" "0000005249" "00000329" "00" "9" "0" "8" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000005249" "00000330" "00" "9" "0" "8" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000005249" "00000331" "00" "9" "0" "8" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000005249" "00000332" "00" "31" "200" "31" "199" "c.31+199_31+200insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017809" "00000329" "00" "4509" "0" "4509" "0" "c.*3786C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017809" "00000330" "00" "4530" "0" "4530" "0" "c.*3786C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017809" "00000331" "00" "4584" "0" "4584" "0" "c.*3786C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017809" "00000332" "00" "4491" "0" "4491" "0" "c.*3786C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017810" "00000329" "00" "4486" "0" "4486" "0" "c.*3763G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017810" "00000330" "00" "4507" "0" "4507" "0" "c.*3763G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017810" "00000331" "00" "4561" "0" "4561" "0" "c.*3763G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017810" "00000332" "00" "4468" "0" "4468" "0" "c.*3763G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017811" "00000329" "00" "4161" "0" "4161" "0" "c.*3438G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017811" "00000330" "00" "4182" "0" "4182" "0" "c.*3438G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017811" "00000331" "00" "4236" "0" "4236" "0" "c.*3438G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017811" "00000332" "00" "4143" "0" "4143" "0" "c.*3438G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017812" "00000329" "00" "3916" "0" "3916" "0" "c.*3193G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017812" "00000330" "00" "3937" "0" "3937" "0" "c.*3193G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017812" "00000331" "00" "3991" "0" "3991" "0" "c.*3193G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017812" "00000332" "00" "3898" "0" "3898" "0" "c.*3193G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017813" "00000329" "00" "3637" "0" "3637" "0" "c.*2914C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017813" "00000330" "00" "3658" "0" "3658" "0" "c.*2914C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017813" "00000331" "00" "3712" "0" "3712" "0" "c.*2914C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017813" "00000332" "00" "3619" "0" "3619" "0" "c.*2914C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017814" "00000329" "00" "3625" "0" "3625" "0" "c.*2902C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017814" "00000330" "00" "3646" "0" "3646" "0" "c.*2902C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017814" "00000331" "00" "3700" "0" "3700" "0" "c.*2902C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017814" "00000332" "00" "3607" "0" "3607" "0" "c.*2902C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017815" "00000329" "00" "3496" "0" "3496" "0" "c.*2773C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017815" "00000330" "00" "3517" "0" "3517" "0" "c.*2773C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017815" "00000331" "00" "3571" "0" "3571" "0" "c.*2773C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017815" "00000332" "00" "3478" "0" "3478" "0" "c.*2773C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017816" "00000329" "00" "3173" "0" "3173" "0" "c.*2450A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017816" "00000330" "00" "3194" "0" "3194" "0" "c.*2450A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017816" "00000331" "00" "3248" "0" "3248" "0" "c.*2450A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017816" "00000332" "00" "3155" "0" "3155" "0" "c.*2450A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017817" "00000329" "00" "3142" "0" "3142" "0" "c.*2419C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017817" "00000330" "00" "3163" "0" "3163" "0" "c.*2419C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017817" "00000331" "00" "3217" "0" "3217" "0" "c.*2419C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017817" "00000332" "00" "3124" "0" "3124" "0" "c.*2419C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017818" "00000329" "00" "3021" "0" "3021" "0" "c.*2298C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017818" "00000330" "00" "3042" "0" "3042" "0" "c.*2298C>T" "" "p.(=)" "r.(=)" 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"" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017821" "00000329" "00" "2481" "0" "2482" "0" "c.*1758_*1759insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017821" "00000330" "00" "2502" "0" "2503" "0" "c.*1758_*1759insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017821" "00000331" "00" "2556" "0" "2557" "0" "c.*1758_*1759insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017821" "00000332" "00" "2463" "0" "2464" "0" "c.*1758_*1759insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017822" "00000329" "00" "2481" "0" "2482" "0" "c.*1758_*1759insTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017822" "00000330" "00" "2502" "0" "2503" "0" "c.*1758_*1759insTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017822" "00000331" "00" "2556" "0" "2557" "0" "c.*1758_*1759insTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017822" "00000332" "00" "2463" "0" "2464" "0" "c.*1758_*1759insTT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017823" "00000329" "00" "2481" "0" "2481" "0" "c.*1758del" "" "p.(=)" "r.(=)" "" 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"r.(=)" "" "" "" "" "" "-" "0000017828" "00000329" "00" "2405" "0" "2405" "0" "c.*1682T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017828" "00000330" "00" "2426" "0" "2426" "0" "c.*1682T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017828" "00000331" "00" "2480" "0" "2480" "0" "c.*1682T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017828" "00000332" "00" "2387" "0" "2387" "0" "c.*1682T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017829" "00000329" "00" "2404" "0" "2404" "0" "c.*1681A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017829" "00000330" "00" "2425" "0" "2425" "0" "c.*1681A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017829" "00000331" "00" "2479" "0" "2479" "0" "c.*1681A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017829" "00000332" "00" "2386" "0" "2386" "0" "c.*1681A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017830" "00000329" "00" "2341" "0" "2341" "0" "c.*1618C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017830" "00000330" "00" "2362" "0" "2362" "0" 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"" "" "" "" "" "-" "0000017835" "00000330" "00" "2147" "0" "2147" "0" "c.*1403A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017835" "00000331" "00" "2201" "0" "2201" "0" "c.*1403A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017835" "00000332" "00" "2108" "0" "2108" "0" "c.*1403A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017836" "00000329" "00" "2056" "0" "2056" "0" "c.*1333G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017836" "00000330" "00" "2077" "0" "2077" "0" "c.*1333G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017836" "00000331" "00" "2131" "0" "2131" "0" "c.*1333G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017836" "00000332" "00" "2038" "0" "2038" "0" "c.*1333G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017837" "00000329" "00" "1767" "0" "1767" "0" "c.*1044C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017837" "00000330" "00" "1788" "0" "1788" "0" "c.*1044C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017837" "00000331" "00" "1842" "0" "1842" "0" "c.*1044C>A" 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"00000331" "00" "1242" "0" "1242" "0" "c.*444G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017847" "00000332" "00" "1149" "0" "1149" "0" "c.*444G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017848" "00000329" "00" "1065" "0" "1065" "0" "c.*342C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017848" "00000330" "00" "1086" "0" "1086" "0" "c.*342C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017848" "00000331" "00" "1140" "0" "1140" "0" "c.*342C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017848" "00000332" "00" "1047" "0" "1047" "0" "c.*342C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017849" "00000329" "00" "685" "0" "685" "0" "c.685C>T" "" "p.(Arg229*)" "r.(?)" "" "" "" "" "" "-" "0000017849" "00000330" "00" "706" "0" "706" "0" "c.706C>T" "" "p.(Arg236*)" "r.(?)" "" "" "" "" "" "-" "0000017849" "00000331" "00" "760" "0" "760" "0" "c.760C>T" "" "p.(Arg254*)" "r.(?)" "" "" "" "" "" "-" "0000017849" "00000332" "00" "667" "0" "667" "0" "c.667C>T" "" "p.(Arg223*)" "r.(?)" "" "" "" "" "" "-" "0000017850" "00000329" "00" "625" "-13" "625" "-13" "c.625-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017850" "00000330" "00" "646" "-13" "646" "-13" "c.646-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017850" "00000331" "00" "700" "-13" "700" "-13" "c.700-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017850" "00000332" "00" "607" "-13" "607" "-13" "c.607-13G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017851" "00000329" "00" "624" "6" "624" "9" "c.624+6_624+9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017851" "00000330" "00" "645" "6" "645" "9" "c.645+6_645+9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017851" "00000331" "00" "699" "6" "699" "9" "c.699+6_699+9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017851" "00000332" "00" "606" "6" "606" "9" "c.606+6_606+9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017852" "00000329" "00" "605" "0" "605" "0" "c.605C>T" "" "p.(Pro202Leu)" "r.(?)" "" "" "" "" "" "-" "0000017852" "00000330" "00" "626" "0" "626" "0" "c.626C>T" "" "p.(Pro209Leu)" "r.(?)" "" "" "" "" "" "-" "0000017852" "00000331" "00" "680" "0" "680" "0" "c.680C>T" "" "p.(Pro227Leu)" "r.(?)" "" "" "" "" "" "-" "0000017852" "00000332" "00" "587" "0" "587" "0" "c.587C>T" "" "p.(Pro196Leu)" "r.(?)" "" "" "" "" "" "-" "0000017853" "00000329" "00" "569" "0" "569" "0" "c.569T>C" "" "p.(Leu190Pro)" "r.(?)" "" "" "" "" "" "-" "0000017853" "00000330" "00" "590" "0" "590" "0" "c.590T>C" "" "p.(Leu197Pro)" "r.(?)" "" "" "" "" "" "-" "0000017853" "00000331" "00" "644" "0" "644" "0" "c.644T>C" "" "p.(Leu215Pro)" "r.(?)" "" "" "" "" "" "-" "0000017853" "00000332" "00" "551" "0" "551" "0" "c.551T>C" "" "p.(Leu184Pro)" "r.(?)" "" "" "" "" "" "-" "0000017854" "00000329" "00" "560" "0" "560" "0" "c.560T>A" "" "p.(Ile187Asn)" "r.(?)" "" "" "" "" "" "-" "0000017854" "00000330" "00" "581" "0" "581" "0" "c.581T>A" "" "p.(Ile194Asn)" "r.(?)" "" "" "" "" "" "-" "0000017854" "00000331" "00" "635" "0" "635" "0" "c.635T>A" "" "p.(Ile212Asn)" "r.(?)" "" "" "" "" "" "-" "0000017854" "00000332" "00" "542" "0" "542" "0" "c.542T>A" "" "p.(Ile181Asn)" "r.(?)" "" "" "" "" "" "-" "0000017855" "00000329" "00" "529" "0" "531" "0" "c.529_531del" "" "p.(Lys177del)" "r.(?)" "" "" "" "" "" "-" "0000017855" "00000330" "00" "550" "0" "552" "0" "c.550_552del" "" "p.(Lys184del)" "r.(?)" "" "" "" "" "" "-" "0000017855" "00000331" "00" "604" "0" "606" "0" "c.604_606del" "" "p.(Lys202del)" "r.(?)" "" "" "" "" "" "-" "0000017855" "00000332" "00" "511" "0" "513" "0" "c.511_513del" "" "p.(Lys171del)" "r.(?)" "" "" "" "" "" "-" "0000017856" "00000329" "00" "500" "0" "500" "0" "c.500G>A" "" "p.(Arg167Lys)" "r.(?)" "" "" "" "" "" "-" "0000017856" "00000330" "00" "521" "0" "521" "0" "c.521G>A" "" "p.(Arg174Lys)" "r.(?)" "" "" "" "" "" "-" "0000017856" "00000331" "00" "575" "0" "575" "0" "c.575G>A" "" "p.(Arg192Lys)" "r.(?)" "" "" "" "" "" "-" "0000017856" "00000332" "00" "482" "0" "482" "0" "c.482G>A" "" "p.(Arg161Lys)" "r.(?)" "" "" "" "" "" "-" "0000017857" "00000329" "00" "487" "0" "487" "0" "c.487A>G" "" "p.(Thr163Ala)" "r.(?)" "" "" "" "" "" "-" "0000017857" "00000330" "00" "508" "0" "508" "0" "c.508A>G" "" "p.(Thr170Ala)" "r.(?)" "" "" "" "" "" "-" "0000017857" "00000331" "00" "562" "0" "562" "0" "c.562A>G" "" "p.(Thr188Ala)" "r.(?)" "" "" "" "" "" "-" "0000017857" "00000332" "00" "469" "0" "469" "0" "c.469A>G" "" "p.(Thr157Ala)" "r.(?)" "" "" "" "" "" "-" "0000017858" "00000329" "00" "472" "0" "472" "0" "c.472C>G" "" "p.(Arg158Gly)" "r.(?)" "" "" "" "" "" "-" "0000017858" "00000330" "00" "493" "0" "493" "0" "c.493C>G" "" "p.(Arg165Gly)" "r.(?)" "" "" "" "" "" "-" "0000017858" "00000331" "00" "547" "0" "547" "0" "c.547C>G" "" "p.(Arg183Gly)" "r.(?)" "" "" "" "" "" "-" "0000017858" "00000332" "00" "454" "0" "454" "0" "c.454C>G" "" "p.(Arg152Gly)" "r.(?)" "" "" "" "" "" "-" "0000017859" "00000329" "00" "472" "0" "472" "0" "c.472C>T" "" "p.(Arg158Trp)" "r.(?)" "" "" "" "" "" "-" "0000017859" "00000330" "00" "493" "0" "493" "0" "c.493C>T" "" "p.(Arg165Trp)" "r.(?)" "" "" "" "" "" "-" "0000017859" "00000331" "00" "547" "0" "547" "0" "c.547C>T" "" "p.(Arg183Trp)" "r.(?)" "" "" "" "" "" "-" "0000017859" "00000332" "00" "454" "0" "454" "0" "c.454C>T" "" "p.(Arg152Trp)" "r.(?)" "" "" "" "" "" "-" "0000017860" "00000329" "00" "375" "-13" "375" "-13" "c.375-13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017860" "00000330" "00" "396" "-13" "396" "-13" "c.396-13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017860" "00000331" "00" "450" "-13" "450" "-13" "c.450-13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017860" "00000332" "00" "357" "-13" "357" "-13" "c.357-13A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017861" "00000329" "00" "341" "0" "341" "0" "c.341C>T" "" "p.(Ala114Val)" "r.(?)" "" "" "" "" "" "-" "0000017861" "00000330" "00" "362" "0" "362" "0" "c.362C>T" "" "p.(Ala121Val)" "r.(?)" "" "" "" "" "" "-" "0000017861" "00000331" "00" "416" "0" "416" "0" "c.416C>T" "" "p.(Ala139Val)" "r.(?)" "" "" "" "" "" "-" "0000017861" "00000332" "00" "323" "0" "323" "0" "c.323C>T" "" "p.(Ala108Val)" "r.(?)" "" "" "" "" "" "-" "0000017862" "00000329" "00" "314" "0" "314" "0" "c.314G>A" "" "p.(Arg105Gln)" "r.(?)" "" "" "" "" "" "-" "0000017862" "00000330" "00" "335" "0" "335" "0" "c.335G>A" "" "p.(Arg112Gln)" "r.(?)" "" "" "" "" "" "-" "0000017862" "00000331" "00" "389" "0" "389" "0" "c.389G>A" "" "p.(Arg130Gln)" "r.(?)" "" "" "" "" "" "-" "0000017862" "00000332" "00" "296" "0" "296" "0" "c.296G>A" "" "p.(Arg99Gln)" "r.(?)" "" "" "" "" "" "-" "0000017863" "00000329" "00" "313" "0" "313" "0" "c.313C>T" "" "p.(Arg105Trp)" "r.(?)" "" "" "" "" "" "-" "0000017863" "00000330" "00" "334" "0" "334" "0" "c.334C>T" "" "p.(Arg112Trp)" "r.(?)" "" "" "" "" "" "-" "0000017863" "00000331" "00" "388" "0" "388" "0" "c.388C>T" "" "p.(Arg130Trp)" "r.(?)" "" "" "" "" "" "-" "0000017863" "00000332" "00" "295" "0" "295" "0" "c.295C>T" "" "p.(Arg99Trp)" "r.(?)" "" "" "" "" "" "-" "0000017864" "00000329" "00" "298" "0" "298" "0" "c.298C>T" "" "p.(Gln100*)" "r.(?)" "" "" "" "" "" "-" "0000017864" "00000330" "00" "319" "0" "319" "0" "c.319C>T" "" "p.(Gln107*)" "r.(?)" "" "" "" "" "" "-" "0000017864" "00000331" "00" "373" "0" "373" "0" "c.373C>T" "" "p.(Gln125*)" "r.(?)" "" "" "" "" "" "-" "0000017864" "00000332" "00" "280" "0" "280" "0" "c.280C>T" "" "p.(Gln94*)" "r.(?)" "" "" "" "" "" "-" "0000017865" "00000329" "00" "286" "0" "286" "0" "c.286C>A" "" "p.(His96Asn)" "r.(?)" "" "" "" "" "" "-" "0000017865" "00000330" "00" "307" "0" "307" "0" "c.307C>A" "" "p.(His103Asn)" "r.(?)" "" "" "" "" "" "-" "0000017865" "00000331" "00" "361" "0" "361" "0" "c.361C>A" "" "p.(His121Asn)" "r.(?)" "" "" "" "" "" "-" "0000017865" "00000332" "00" "268" "0" "268" "0" "c.268C>A" "" "p.(His90Asn)" "r.(?)" "" "" "" "" "" "-" "0000017866" "00000329" "00" "285" "0" "286" "0" "c.285_286delinsAA" "" "p.(His96Asn)" "r.(?)" "" "" "" "" "" "-" "0000017866" "00000330" "00" "306" "0" "307" "0" "c.306_307delinsAA" "" "p.(His103Asn)" "r.(?)" "" "" "" "" "" "-" "0000017866" "00000331" "00" "360" "0" "361" "0" "c.360_361delinsAA" "" "p.(His121Asn)" "r.(?)" "" "" "" "" "" "-" "0000017866" "00000332" "00" "267" "0" "268" "0" "c.267_268delinsAA" "" "p.(His90Asn)" "r.(?)" "" "" "" "" "" "-" "0000017867" "00000329" "00" "261" "0" "262" "0" "c.261_262insAT" "" "p.(Val88Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000017867" "00000330" "00" "282" "0" "283" "0" "c.282_283insAT" "" "p.(Val95Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000017867" "00000331" "00" "336" "0" "337" "0" "c.336_337insAT" "" "p.(Val113Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000017867" "00000332" "00" "243" "0" "244" "0" "c.243_244insAT" "" "p.(Val82Metfs*20)" "r.(?)" "" "" "" "" "" "-" "0000017868" "00000329" "00" "259" "0" "259" "0" "c.259T>A" "" "p.(Tyr87Asn)" "r.(?)" "" "" "" "" "" "-" "0000017868" "00000330" "00" "280" "0" "280" "0" "c.280T>A" "" "p.(Tyr94Asn)" "r.(?)" "" "" "" "" "" "-" "0000017868" "00000331" "00" "334" "0" "334" "0" "c.334T>A" "" "p.(Tyr112Asn)" "r.(?)" "" "" "" "" "" "-" "0000017868" "00000332" "00" "241" "0" "241" "0" "c.241T>A" "" "p.(Tyr81Asn)" "r.(?)" "" "" "" "" "" "-" "0000017869" "00000329" "00" "248" "0" "248" "0" "c.248C>T" "" "p.(Thr83Met)" "r.(?)" "" "" "" "" "" "-" "0000017869" "00000330" "00" "269" "0" "269" "0" "c.269C>T" "" "p.(Thr90Met)" "r.(?)" "" "" "" "" "" "-" "0000017869" "00000331" "00" "323" "0" "323" "0" "c.323C>T" "" "p.(Thr108Met)" "r.(?)" "" "" "" "" "" "-" "0000017869" "00000332" "00" "230" "0" "230" "0" "c.230C>T" "" "p.(Thr77Met)" "r.(?)" "" "" "" "" "" "-" "0000017870" "00000329" "00" "213" "0" "213" "0" "c.213C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017870" "00000330" "00" "234" "0" "234" "0" "c.234C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017870" "00000331" "00" "288" "0" "288" "0" "c.288C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017870" "00000332" "00" "195" "0" "195" "0" "c.195C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017871" "00000329" "00" "203" "0" "203" "0" "c.203A>G" "" "p.(Asn68Ser)" "r.(?)" "" "" "" "" "" "-" "0000017871" "00000330" "00" "231" "4908" "231" "4908" "c.231+4908A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017871" "00000331" "00" "278" "0" "278" "0" "c.278A>G" "" "p.(Asn93Ser)" "r.(?)" "" "" "" "" "" "-" "0000017871" "00000332" "00" "185" "0" "185" "0" "c.185A>G" "" "p.(Asn62Ser)" "r.(?)" "" "" "" "" "" "-" "0000017872" "00000329" "00" "193" "0" "193" "0" "c.193C>T" "" "p.(Arg65Cys)" "r.(?)" "" "" "" "" "" "-" "0000017872" "00000330" "00" "231" "4898" "231" "4898" "c.231+4898C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017872" "00000331" "00" "268" "0" "268" "0" "c.268C>T" "" "p.(Arg90Cys)" "r.(?)" "" "" "" "" "" "-" "0000017872" "00000332" "00" "175" "0" "175" "0" "c.175C>T" "" "p.(Arg59Cys)" "r.(?)" "" "" "" "" "" "-" "0000017873" "00000329" "00" "157" "-4852" "157" "-4852" "c.157-4852C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017873" "00000330" "00" "231" "10" "231" "10" "c.231+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017873" "00000331" "00" "231" "10" "231" "10" "c.231+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017873" "00000332" "00" "138" "10" "138" "10" "c.138+10C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017874" "00000329" "00" "157" "-4874" "157" "-4873" "c.157-4874_157-4873insCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017874" "00000330" "00" "219" "0" "220" "0" "c.219_220insCG" "" "p.(Thr74Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000017874" "00000331" "00" "219" "0" "220" "0" "c.219_220insCG" "" "p.(Thr74Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000017874" "00000332" "00" "126" "0" "127" "0" "c.126_127insCG" "" "p.(Thr43Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000017875" "00000329" "00" "157" "-4895" "157" "-4895" "c.157-4895C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017875" "00000330" "00" "198" "0" "198" "0" "c.198C>G" "" "p.(Cys66Trp)" "r.(?)" "" "" "" "" "" "-" "0000017875" "00000331" "00" "198" "0" "198" "0" "c.198C>G" "" "p.(Cys66Trp)" "r.(?)" "" "" "" "" "" "-" "0000017875" "00000332" "00" "105" "0" "105" "0" "c.105C>G" "" "p.(Cys35Trp)" "r.(?)" "" "" "" "" "" "-" "0000017876" "00000329" "00" "157" "-4902" "157" "-4902" "c.157-4902C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017876" "00000330" "00" "191" "0" "191" "0" "c.191C>T" "" "p.(Thr64Met)" "r.(?)" "" "" "" "" "" "-" "0000017876" "00000331" "00" "191" "0" "191" "0" "c.191C>T" "" "p.(Thr64Met)" "r.(?)" "" "" "" "" "" "-" "0000017876" "00000332" "00" "98" "0" "98" "0" "c.98C>T" "" "p.(Thr33Met)" "r.(?)" "" "" "" "" "" "-" "0000017877" "00000329" "00" "157" "-4920" "157" "-4920" "c.157-4920A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017877" "00000330" "00" "173" "0" "173" "0" "c.173A>G" "" "p.(Asn58Ser)" "r.(?)" "" "" "" "" "" "-" "0000017877" "00000331" "00" "173" "0" "173" "0" "c.173A>G" "" "p.(Asn58Ser)" "r.(?)" "" "" "" "" "" "-" "0000017877" "00000332" "00" "80" "0" "80" "0" "c.80A>G" "" "p.(Asn27Ser)" "r.(?)" "" "" "" "" "" "-" "0000017878" "00000329" "00" "157" "-4934" "157" "-4934" "c.157-4934C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017878" "00000330" "00" "159" "0" "159" "0" "c.159C>G" "" "p.(Ile53Met)" "r.(?)" "" "" "" "" "" "-" "0000017878" "00000331" "00" "159" "0" "159" "0" "c.159C>G" "" "p.(Ile53Met)" "r.(?)" "" "" "" "" "" "-" "0000017878" "00000332" "00" "66" "0" "66" "0" "c.66C>G" "" "p.(Ile22Met)" "r.(?)" "" "" "" "" "" "-" "0000017879" "00000329" "00" "157" "-4948" "157" "-4948" "c.157-4948G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017879" "00000330" "00" "157" "-12" "157" "-12" "c.157-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017879" "00000331" "00" "157" "-12" "157" "-12" "c.157-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017879" "00000332" "00" "64" "-12" "64" "-12" "c.64-12G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017880" "00000329" "00" "156" "15" "156" "15" "c.156+15T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017880" "00000330" "00" "156" "15" "156" "15" "c.156+15T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017880" "00000331" "00" "156" "15" "156" "15" "c.156+15T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017880" "00000332" "00" "63" "15" "63" "15" "c.63+15T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017881" "00000329" "00" "156" "2" "156" "2" "c.156+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017881" "00000330" "00" "156" "2" "156" "2" "c.156+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017881" "00000331" "00" "156" "2" "156" "2" "c.156+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017881" "00000332" "00" "63" "2" "63" "2" "c.63+2T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000017882" "00000329" "00" "150" "0" "151" "0" "c.150_151insA" "" "p.(Ser51Ilefs*74)" "r.(?)" "" "" "" "" "" "-" "0000017882" "00000330" "00" "150" "0" "151" "0" "c.150_151insA" "" "p.(Ser51Ilefs*81)" "r.(?)" "" "" "" "" "" "-" "0000017882" "00000331" "00" "150" "0" "151" "0" "c.150_151insA" "" "p.(Ser51Ilefs*99)" "r.(?)" "" "" "" "" "" "-" "0000017882" "00000332" "00" "57" "0" "58" "0" "c.57_58insA" "" "p.(Ser20Ilefs*99)" "r.(?)" "" "" "" "" "" "-" "0000017883" "00000329" "00" "142" "0" "143" "0" "c.142_143insG" "" "p.(Glu48Glyfs*77)" "r.(?)" "" "" "" "" "" "-" "0000017883" "00000330" "00" "142" "0" "143" "0" "c.142_143insG" "" "p.(Glu48Glyfs*84)" "r.(?)" "" "" "" "" "" "-" "0000017883" "00000331" "00" "142" "0" "143" "0" "c.142_143insG" "" "p.(Glu48Glyfs*102)" "r.(?)" "" "" "" "" "" "-" "0000017883" "00000332" "00" "49" "0" "50" "0" "c.49_50insG" "" "p.(Glu17Glyfs*102)" "r.(?)" "" "" "" "" "" "-" "0000017884" "00000329" "00" "129" "0" "132" "0" "c.129_132del" "" "p.(Lys43Asnfs*11)" "r.(?)" "" "" "" "" "" "-" "0000017884" "00000330" "00" "129" "0" "132" "0" "c.129_132del" "" "p.(Lys43Asnfs*9)" "r.(?)" "" "" "" "" "" "-" "0000017884" "00000331" "00" "129" "0" "132" "0" "c.129_132del" "" "p.(Lys43Asnfs*9)" "r.(?)" "" "" "" "" "" "-" "0000017884" "00000332" "00" "36" "0" "39" "0" "c.36_39del" "" "p.(Lys12Asnfs*9)" "r.(?)" "" "" "" "" "" "-" "0000017885" "00000329" "00" "133" "0" "133" "0" "c.133C>T" "" "p.(Gln45*)" "r.(?)" "" "" "" "" "" "-" "0000017885" "00000330" "00" "133" "0" "133" "0" "c.133C>T" "" "p.(Gln45*)" "r.(?)" "" "" "" "" "" "-" "0000017885" "00000331" "00" "133" "0" "133" "0" "c.133C>T" "" "p.(Gln45*)" "r.(?)" "" "" "" "" "" "-" "0000017885" "00000332" "00" "40" "0" "40" "0" "c.40C>T" "" "p.(Gln14*)" "r.(?)" "" "" "" "" "" "-" "0000017886" "00000329" "00" "124" "6" "124" "6" "c.124+6G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017886" "00000330" "00" "124" "6" "124" "6" "c.124+6G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017886" "00000331" "00" "124" "6" "124" "6" "c.124+6G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017886" "00000332" "00" "31" "321" "31" "321" "c.31+321G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017887" "00000329" "00" "94" "0" "94" "0" "c.94C>T" "" "p.(Arg32Trp)" "r.(?)" "" "" "" "" "" "-" "0000017887" "00000330" "00" "94" "0" "94" "0" "c.94C>T" "" "p.(Arg32Trp)" "r.(?)" "" "" "" "" "" "-" "0000017887" "00000331" "00" "94" "0" "94" "0" "c.94C>T" "" "p.(Arg32Trp)" "r.(?)" "" "" "" "" "" "-" "0000017887" "00000332" "00" "31" "285" "31" "285" "c.31+285C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017888" "00000329" "00" "8" "0" "9" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000017888" "00000330" "00" "8" "0" "9" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000017888" "00000331" "00" "8" "0" "9" "0" "c.8_9insT" "" "p.(Trp4Valfs*40)" "r.(?)" "" "" "" "" "" "-" "0000017888" "00000332" "00" "31" "199" "31" "200" "c.31+199_31+200insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017889" "00000329" "00" "-30" "0" "-30" "0" "c.-30C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017889" "00000330" "00" "-30" "0" "-30" "0" "c.-30C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017889" "00000331" "00" "-30" "0" "-30" "0" "c.-30C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017889" "00000332" "00" "31" "162" "31" "162" "c.31+162C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017890" "00000329" "00" "-38" "0" "-38" "0" "c.-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017890" "00000330" "00" "-38" "0" "-38" "0" "c.-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017890" "00000331" "00" "-38" "0" "-38" "0" "c.-38A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017890" "00000332" "00" "31" "154" "31" "154" "c.31+154A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017891" "00000329" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017891" "00000330" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017891" "00000331" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017891" "00000332" "00" "31" "144" "31" "144" "c.31+144G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017892" "00000329" "00" "-216" "0" "-216" "0" "c.-216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017892" "00000330" "00" "-216" "0" "-216" "0" "c.-216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017892" "00000331" "00" "-216" "0" "-216" "0" "c.-216G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000017892" "00000332" "00" "7" "0" "7" "0" "c.7G>A" "" "p.(Ala3Thr)" "r.(?)" "" "" "" "" "" "-" "0000025292" "00000329" "00" "122" "0" "122" "0" "c.122C>A" "" "p.(Pro41His)" "r.(?)" "" "" "" "" "" "-" "0000025292" "00000330" "00" "122" "0" "122" "0" "c.122C>A" "" "p.(Pro41His)" "r.(?)" "" "" "" "" "" "-" "0000025292" "00000331" "00" "122" "0" "122" "0" "c.122C>A" "" "p.(Pro41His)" "r.(?)" "" "" "" "" "" "-" "0000025292" "00000332" "00" "31" "313" "31" "313" "c.31+313C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0