### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = COQ2) # 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}}" "COQ2" "coenzyme Q2 4-hydroxybenzoate polyprenyltransferase" "4" "q21.23" "unknown" "NC_000004.11" "UD_138385357802" "" "" "" "1" "1" "25223" "27235" "609825" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:44:12" "" "" "" "" "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 = 3 "{{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}}" "00000070" "COQ2" "transcript variant X1" "001" "XM_005262926.1" "" "XP_005262983.1" "" "" "" "-1021" "1292" "912" "84205475" "84184972" "00001" "2013-11-07 13:46:24" "" "" "" "4" "00000071" "COQ2" "transcript variant X2" "002" "XM_005262927.1" "" "XP_005262984.1" "" "" "" "-201" "1166" "786" "84203809" "84184972" "00001" "2013-11-07 13:46:24" "" "" "" "4" "00000072" "COQ2" "coenzyme Q2 4-hydroxybenzoate polyprenyltransferase" "003" "NM_015697.7" "" "NP_056512.5" "" "" "" "1" "1641" "1266" "84206067" "84184977" "00001" "2013-11-07 13:46:24" "" "" "" "4" ## 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}}" "00090" "COQ10D1" "Coenzyme Q10 deficiency, primary, 1, 607426 (3)" "607426" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "COQ2" "00090" "COQ2" "00123" ## 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 = 32 "{{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}}" "0000000997" "0" "99" "4" "84191035" "84191035" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-01-13 09:09:15" "COQ2_000003" "g.84191035T>C" "" "{PMID:16116126:16116126};{PMID:16400613:16400613};{PMID:17374725:17374725};{PMID:20495179:20495179}" "" "rs121918230" "subst" "0" "; clinVar; Ensembl;" "6.170" "" "" "" "" "MSCV_0000997" "" "0000000998" "0" "99" "4" "84194658" "84194658" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-01-16 11:06:54" "COQ2_000004" "g.84194658T>C" "" "{PMID:17855635:17855635}" "" "rs121918232" "subst" "0" "; clinVar; Ensembl;" "5.570" "" "" "" "" "MSCV_0000998" "" "0000000999" "0" "99" "4" "84194751" "84194751" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2018-01-13 09:08:38" "COQ2_000001" "g.84194751C>T" "" "{PMID:17855635:17855635};{PMID:20495179:20495179}" "" "rs121918231" "subst" "0" "; clinVar; Ensembl;" "5.570" "" "" "" "" "MSCV_0000999" "" "0000001000" "0" "99" "4" "84200234" "84200234" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2017-03-18 17:22:53" "COQ2_000002" "g.84200234C>T" "" "{PMID:17855635:17855635}" "" "rs121918233" "subst" "0" "; clinVar; Ensembl;" "4.330" "" "" "" "" "MSCV_0001000" "" "0000020668" "0" "33" "4" "84188850" "84188850" "subst" "51" "0.220841" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-03 02:07:00" "COQ2_000008" "g.84188850G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020668" "" "0000020669" "0" "11" "4" "84191031" "84191031" "subst" "35" "0.736851" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-08-20 06:52:56" "COQ2_000009" "g.84191031A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020669" "" "0000020670" "0" "99" "4" "84191035" "84191035" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-17 04:47:55" "COQ2_000003" "g.84191035T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000997" "" "0000020671" "0" "77" "4" "84191071" "84191071" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-16 08:35:18" "COQ2_000005" "g.84191071G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020671" "" "0000020672" "0" "99" "4" "84194658" "84194658" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:59:15" "COQ2_000004" "g.84194658T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000998" "" "0000020673" "0" "99" "4" "84194751" "84194751" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-17 08:35:17" "COQ2_000001" "g.84194751C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000999" "" "0000020674" "0" "99" "4" "84200234" "84200234" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-16 09:51:06" "COQ2_000002" "g.84200234C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001000" "" "0000020675" "0" "11" "4" "84205872" "84205872" "subst" "35" "0.685193" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-17 06:03:43" "COQ2_000006" "g.84205872C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020675" "" "0000020676" "0" "55" "4" "84206052" "84206052" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-01-17 07:19:30" "COQ2_000007" "g.84206052G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0020676" "" "0000026212" "0" "00" "4" "84185003" "84185004" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:24:29" "COQ2_000028" "g.84185003_84185004insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026213" "0" "00" "4" "84185015" "84185015" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:46:34" "COQ2_000021" "g.84185015T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026214" "0" "00" "4" "84185083" "84185083" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:46:48" "COQ2_000022" "g.84185083C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026215" "0" "00" "4" "84185095" "84185095" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:47:04" "COQ2_000023" "g.84185095A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026216" "0" "00" "4" "84185120" "84185120" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:47:22" "COQ2_000024" "g.84185120G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026217" "0" "00" "4" "84185199" "84185199" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:47:37" "COQ2_000025" "g.84185199T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026218" "0" "00" "4" "84185201" "84185201" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:47:52" "COQ2_000026" "g.84185201T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026219" "0" "00" "4" "84185299" "84185299" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:48:08" "COQ2_000027" "g.84185299C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026220" "0" "00" "4" "84185337" "84185337" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:29:15" "COQ2_000018" "g.84185337G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026221" "0" "00" "4" "84185396" "84185398" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:29:28" "COQ2_000019" "g.84185396_84185398del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026222" "0" "00" "4" "84185421" "84185421" "del" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 20:29:40" "COQ2_000020" "g.84185421del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026223" "0" "00" "4" "84185459" "84185459" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:42:32" "COQ2_000010" "g.84185459G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026224" "0" "00" "4" "84188882" "84188882" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:19" "COQ2_000011" "g.84188882G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026225" "0" "00" "4" "84191020" "84191020" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:33" "COQ2_000012" "g.84191020G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026226" "0" "00" "4" "84200126" "84200126" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:43:51" "COQ2_000013" "g.84200126A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026227" "0" "00" "4" "84205686" "84205686" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:19" "COQ2_000014" "g.84205686T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026228" "0" "00" "4" "84205753" "84205753" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:31" "COQ2_000015" "g.84205753C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026229" "0" "00" "4" "84205779" "84205780" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:44:54" "COQ2_000016" "g.84205779_84205780insG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026230" "0" "00" "4" "84206004" "84206004" "subst" "35" "0.0167967" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 13:45:06" "COQ2_000017" "g.84206004T>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 = 96 "{{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}}" "0000000997" "00000070" "99" "536" "0" "536" "0" "c.536A>G" "5/7" "" "" "-" "" "missense_variant" "" "" "-" "0000000997" "00000071" "99" "410" "0" "410" "0" "c.410A>G" "5/7" "p.(Tyr137Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000997" "00000072" "99" "890" "0" "890" "0" "c.890A>G" "5/7" "p.(Tyr297Cys)" "r.(?)" "probably_damaging(0.97)" "" "missense_variant" "" "" "deleterious(0)" "0000000998" "00000070" "99" "329" "0" "329" "0" "c.329A>G" "3/7" "" "" "-" "" "missense_variant" "" "" "-" "0000000998" "00000071" "99" "203" "0" "203" "0" "c.203A>G" "3/7" "p.(Asn68Ser)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000998" "00000072" "99" "683" "0" "683" "0" "c.683A>G" "3/7" "p.(Asn228Ser)" "r.(?)" "benign(0.444)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000999" "00000070" "99" "236" "0" "236" "0" "c.236G>A" "3/7" "" "" "-" "" "missense_variant" "" "" "-" "0000000999" "00000071" "99" "110" "0" "110" "0" "c.110G>A" "3/7" "p.(Arg37His)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000999" "00000072" "99" "590" "0" "590" "0" "c.590G>A" "3/7" "p.(Arg197His)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000001000" "00000070" "99" "83" "0" "83" "0" "c.83G>A" "2/7" "" "" "-" "" "missense_variant" "" "" "-" "0000001000" "00000071" "99" "-44" "0" "-44" "0" "c.-44G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001000" "00000072" "99" "437" "0" "437" "0" "c.437G>A" "2/7" "p.(Ser146Asn)" "r.(?)" "probably_damaging(0.974)" "" "missense_variant" "" "" "deleterious(0)" "0000020668" "00000070" "00" "636" "0" "636" "0" "c.636C>T" "" "" "" "" "" "" "" "" "-" "0000020668" "00000071" "00" "510" "0" "510" "0" "c.510C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020668" "00000072" "00" "990" "0" "990" "0" "c.990C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020669" "00000070" "00" "540" "0" "540" "0" "c.540T>C" "" "" "" "" "" "" "" "" "-" "0000020669" "00000071" "00" "414" "0" "414" "0" "c.414T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020669" "00000072" "00" "894" "0" "894" "0" "c.894T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020670" "00000070" "00" "536" "0" "536" "0" "c.536A>G" "" "" "" "" "" "" "" "" "-" "0000020670" "00000071" "00" "410" "0" "410" "0" "c.410A>G" "" "p.(Tyr137Cys)" "r.(?)" "" "" "" "" "" "-" "0000020670" "00000072" "00" "890" "0" "890" "0" "c.890A>G" "" "p.(Tyr297Cys)" "r.(?)" "" "" "" "" "" "-" "0000020671" "00000070" "00" "500" "0" "500" "0" "c.500C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000020671" "00000071" "00" "374" "0" "374" "0" "c.374C>G" "" "p.(Pro125Arg)" "r.(?)" "" "" "" "" "" "-" "0000020671" "00000072" "00" "854" "0" "854" "0" "c.854C>G" "" "p.(Pro285Arg)" "r.(?)" "" "" "" "" "" "-" "0000020672" "00000070" "00" "329" "0" "329" "0" "c.329A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000020672" "00000071" "00" "203" "0" "203" "0" "c.203A>G" "" "p.(Asn68Ser)" "r.(?)" "" "" "" "" "" "-" "0000020672" "00000072" "00" "683" "0" "683" "0" "c.683A>G" "" "p.(Asn228Ser)" "r.(?)" "" "" "" "" "" "-" "0000020673" "00000070" "00" "236" "0" "236" "0" "c.236G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000020673" "00000071" "00" "110" "0" "110" "0" "c.110G>A" "" "p.(Arg37His)" "r.(?)" "" "" "" "" "" "-" "0000020673" "00000072" "00" "590" "0" "590" "0" "c.590G>A" "" "p.(Arg197His)" "r.(?)" "" "" "" "" "" "-" "0000020674" "00000070" "00" "83" "0" "83" "0" "c.83G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000020674" "00000071" "00" "-44" "0" "-44" "0" "c.-44G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020674" "00000072" "00" "437" "0" "437" "0" "c.437G>A" "" "p.(Ser146Asn)" "r.(?)" "" "" "" "" "" "-" "0000020675" "00000070" "00" "-1021" "-397" "-1021" "-397" "c.-1418G>T" "" "" "" "" "" "" "" "" "-" "0000020675" "00000071" "00" "-201" "-2063" "-201" "-2063" "c.-2264G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020675" "00000072" "00" "196" "0" "196" "0" "c.196G>T" "" "p.(Val66Leu)" "r.(?)" "" "" "" "" "" "-" "0000020676" "00000070" "00" "-1021" "-577" "-1021" "-577" "c.-1598C>A" "" "" "" "" "" "" "" "" "-" "0000020676" "00000071" "00" "-201" "-2243" "-201" "-2243" "c.-2444C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000020676" "00000072" "00" "16" "0" "16" "0" "c.16C>A" "" "p.(Gln6Lys)" "r.(?)" "" "" "" "" "" "-" "0000026212" "00000070" "00" "1260" "0" "1261" "0" "c.*348_*349insT" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026212" "00000071" "00" "1134" "0" "1135" "0" "c.*348_*349insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026212" "00000072" "00" "1614" "0" "1615" "0" "c.*348_*349insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026213" "00000070" "00" "1249" "0" "1249" "0" "c.*337A>T" "" "" "" "" "" "" "" "" "-" "0000026213" "00000071" "00" "1123" "0" "1123" "0" "c.*337A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026213" "00000072" "00" "1603" "0" "1603" "0" "c.*337A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026214" "00000070" "00" "1181" "0" "1181" "0" "c.*269G>A" "" "" "" "" "" "" "" "" "-" "0000026214" "00000071" "00" "1055" "0" "1055" "0" "c.*269G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026214" "00000072" "00" "1535" "0" "1535" "0" "c.*269G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026215" "00000070" "00" "1169" "0" "1169" "0" "c.*257T>C" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026215" "00000071" "00" "1043" "0" "1043" "0" "c.*257T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026215" "00000072" "00" "1523" "0" "1523" "0" "c.*257T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026216" "00000070" "00" "1144" "0" "1144" "0" "c.*232C>G" "" "" "" "" "" "" "" "" "-" "0000026216" "00000071" "00" "1018" "0" "1018" "0" "c.*232C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026216" "00000072" "00" "1498" "0" "1498" "0" "c.*232C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026217" "00000070" "00" "1065" "0" "1065" "0" "c.*153A>G" "" "" "" "" "" "" "" "" "-" "0000026217" "00000071" "00" "939" "0" "939" "0" "c.*153A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026217" "00000072" "00" "1419" "0" "1419" "0" "c.*153A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026218" "00000070" "00" "1063" "0" "1063" "0" "c.*151A>G" "" "" "" "" "" "" "" "" "-" "0000026218" "00000071" "00" "937" "0" "937" "0" "c.*151A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026218" "00000072" "00" "1417" "0" "1417" "0" "c.*151A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026219" "00000070" "00" "965" "0" "965" "0" "c.*53G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026219" "00000071" "00" "839" "0" "839" "0" "c.*53G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026219" "00000072" "00" "1319" "0" "1319" "0" "c.*53G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026220" "00000070" "00" "927" "0" "927" "0" "c.*15C>T" "" "" "" "" "" "" "" "" "-" "0000026220" "00000071" "00" "801" "0" "801" "0" "c.*15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026220" "00000072" "00" "1281" "0" "1281" "0" "c.*15C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026221" "00000070" "00" "866" "0" "868" "0" "c.866_868del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026221" "00000071" "00" "740" "0" "742" "0" "c.740_742del" "" "p.(Lys247del)" "r.(?)" "" "" "" "" "" "-" "0000026221" "00000072" "00" "1220" "0" "1222" "0" "c.1220_1222del" "" "p.(Lys407del)" "r.(?)" "" "" "" "" "" "-" "0000026222" "00000070" "00" "843" "0" "843" "0" "c.843del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026222" "00000071" "00" "717" "0" "717" "0" "c.717del" "" "p.(Asn241Ilefs*15)" "r.(?)" "" "" "" "" "" "-" "0000026222" "00000072" "00" "1197" "0" "1197" "0" "c.1197del" "" "p.(Asn401Ilefs*15)" "r.(?)" "" "" "" "" "" "-" "0000026223" "00000070" "00" "805" "0" "805" "0" "c.805C>T" "" "" "" "" "" "" "" "" "-" "0000026223" "00000071" "00" "679" "0" "679" "0" "c.679C>T" "" "p.(Arg227*)" "r.(?)" "" "" "" "" "" "-" "0000026223" "00000072" "00" "1159" "0" "1159" "0" "c.1159C>T" "" "p.(Arg387*)" "r.(?)" "" "" "" "" "" "-" "0000026224" "00000070" "00" "604" "0" "604" "0" "c.604C>T" "" "" "" "" "" "" "" "" "-" "0000026224" "00000071" "00" "478" "0" "478" "0" "c.478C>T" "" "p.(Arg160Trp)" "r.(?)" "" "" "" "" "" "-" "0000026224" "00000072" "00" "958" "0" "958" "0" "c.958C>T" "" "p.(Arg320Trp)" "r.(?)" "" "" "" "" "" "-" "0000026225" "00000070" "00" "551" "0" "551" "0" "c.551C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000026225" "00000071" "00" "425" "0" "425" "0" "c.425C>T" "" "p.(Ala142Val)" "r.(?)" "" "" "" "" "" "-" "0000026225" "00000072" "00" "905" "0" "905" "0" "c.905C>T" "" "p.(Ala302Val)" "r.(?)" "" "" "" "" "" "-" "0000026226" "00000070" "00" "191" "0" "191" "0" "c.191T>G" "" "" "" "" "" "" "" "" "-" "0000026226" "00000071" "00" "65" "0" "65" "0" "c.65T>G" "" "p.(Met22Arg)" "r.(?)" "" "" "" "" "" "-" "0000026226" "00000072" "00" "545" "0" "545" "0" "c.545T>G" "" "p.(Met182Arg)" "r.(?)" "" "" "" "" "" "-" "0000026227" "00000070" "00" "-1021" "-211" "-1021" "-211" "c.-1232A>G" "" "" "" "" "" "" "" "" "-" "0000026227" "00000071" "00" "-201" "-1877" "-201" "-1877" "c.-2078A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026227" "00000072" "00" "382" "0" "382" "0" "c.382A>G" "" "p.(Met128Val)" "r.(?)" 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"" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0