### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = AK2) # 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}}" "AK2" "adenylate kinase 2" "1" "p35.1" "unknown" "NC_000001.10" "UD_132118565187" "" "" "" "1" "1" "362" "204" "103020" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" " ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "-1" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "-1" "00001" "2013-11-12 21:25:34" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "{{chrom}}" "00000423" "AK2" "transcript variant 3" "001" "NM_001199199.1" "" "NP_001186128.1" "" "" "" "-83" "3564" "675" "33502512" "33473541" "00001" "2013-11-12 21:27:42" "" "" "" "1" "00000424" "AK2" "transcript variant 2" "002" "NM_013411.4" "" "NP_037543.1" "" "" "" "-83" "3588" "699" "33502512" "33473541" "00001" "2013-11-12 21:27:42" "" "" "" "1" "00000425" "AK2" "transcript variant 4" "003" "NR_037591.1" "" "" "" "" "" "1" "3789" "3789" "33502512" "33473541" "00001" "2013-11-12 21:27:42" "" "" "" "1" "00000426" "AK2" "transcript variant 1" "004" "NM_001625.3" "" "NP_001616.1" "" "" "" "-83" "2676" "720" "33502512" "33476826" "00001" "2013-11-12 21:27:42" "" "" "" "1" "00000427" "AK2" "transcript variant 5" "005" "NR_037592.1" "" "" "" "" "" "1" "2877" "2877" "33502512" "33476826" "00001" "2013-11-12 21:27:42" "" "" "" "1" ## 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}}" "00119" "267500" "Reticular dysgenesis, 267500 (3)" "267500" "" "" "" "00001" "2013-11-16 01:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "AK2" "00119" ## 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 = 34 "{{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}}" "0000000014" "0" "99" "1" "33478805" "33478805" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-13 23:09:50" "AK2_000007" "g.33478805T>A" "" "{PMID:19043416:19043416}" "" "rs267606646" "subst" "0" "; clinVar; Ensembl;" "5.510" "" "" "" "" "MSCV_0000014" "" "0000000015" "0" "99" "1" "33478946" "33478946" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-13 23:55:53" "AK2_000008" "g.33478946G>A" "" "{PMID:19043416:19043416}" "" "rs267606645" "subst" "0" "; clinVar; Ensembl;" "5.170" "" "" "" "" "MSCV_0000015" "" "0000000016" "0" "99" "1" "33478954" "33478954" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 03:54:25" "AK2_000009" "g.33478954A>T" "" "{PMID:19043416:19043416}" "" "rs267606644" "subst" "0" "; clinVar; Ensembl;" "5.170" "" "" "" "" "MSCV_0000016" "" "0000000017" "0" "99" "1" "33480127" "33480127" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-14 00:35:05" "AK2_000001" "g.33480127T>C" "" "{PMID:19043416:19043416}" "" "rs267606643" "subst" "0" "; clinVar; Ensembl;" "5.120" "" "" "" "" "MSCV_0000017" "" "0000000018" "0" "99" "1" "33487217" "33487217" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-14 00:31:04" "AK2_000002" "g.33487217G>A" "" "{PMID:19043416:19043416}" "" "rs267606648" "subst" "0" "; clinVar; Ensembl;" "4.460" "" "" "" "" "MSCV_0000018" "" "0000000019" "0" "99" "1" "33487217" "33487217" "subst" "51" "0.0000768876" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 03:54:25" "AK2_000003" "g.33487217G>T" "" "{PMID:19043416:19043416}" "" "rs267606648" "subst" "0" "; clinVar; Ensembl;" "4.460" "" "" "" "" "MSCV_0000019" "" "0000000020" "0" "99" "1" "33490144" "33490144" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-13 23:27:21" "AK2_000004" "g.33490144del" "" "{PMID:19043417:19043417}" "" "rs387906581" "del" "0" "; clinVar; Ensembl;" "5.150" "" "" "" "" "MSCV_0000020" "" "0000000021" "0" "99" "1" "33502405" "33502405" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2024-04-14 03:14:22" "AK2_000005" "g.33502405C>T" "" "{PMID:19043416:19043416}" "" "rs267606647" "subst" "0" ";" "0.873" "" "" "" "" "MSCV_0000021" "" "0000000022" "0" "99" "1" "33502429" "33502429" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-23 03:54:25" "AK2_000006" "g.33502429T>C" "" "{PMID:19043417:19043417}" "" "rs137853206" "subst" "0" "; clinVar; Ensembl;" "4.920" "" "" "" "" "MSCV_0000022" "" "0000001795" "0" "99" "1" "33502405" "33502405" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 11:34:36" "00000" "2024-04-13 22:38:01" "AK2_000010" "g.33502405C>A" "" "{PMID:19043416:19043416}" "" "rs267606647" "subst" "0" "; clinVar; Ensembl;" "0.873" "" "" "" "" "MSCV_0001795" "" "0000015273" "0" "99" "1" "33478805" "33478805" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-14 00:39:07" "AK2_000007" "g.33478805T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000014" "" "0000015274" "0" "33" "1" "33478872" "33478872" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-25 14:56:20" "AK2_000013" "g.33478872G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015274" "" "0000015275" "0" "33" "1" "33478877" "33478877" "subst" "35" "0.00945717" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:08:00" "AK2_000012" "g.33478877C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015275" "" "0000015276" "0" "33" "1" "33478899" "33478899" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:27:56" "AK2_000014" "g.33478899G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015276" "" "0000015277" "0" "11" "1" "33478931" "33478931" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-19 14:12:56" "AK2_000015" "g.33478931G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015277" "" "0000015278" "0" "99" "1" "33478946" "33478946" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:08:07" "AK2_000008" "g.33478946G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000015" "" "0000015279" "0" "99" "1" "33478979" "33478979" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 17:28:00" "AK2_000016" "g.33478979del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015279" "" "0000015280" "0" "33" "1" "33478998" "33478998" "subst" "35" "0.0000768876" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-19 14:16:28" "AK2_000017" "g.33478998G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015280" "" "0000015281" "0" "99" "1" "33480127" "33480127" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-14 00:54:50" "AK2_000001" "g.33480127T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000017" "" "0000015282" "0" "99" "1" "33480168" "33480168" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-14 00:01:58" "AK2_000018" "g.33480168del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015282" "" "0000015283" "0" "11" "1" "33487007" "33487007" "subst" "35" "0.00407504" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-13 23:50:42" "AK2_000019" "g.33487007C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015283" "" "0000015284" "0" "99" "1" "33487217" "33487217" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-14 00:13:04" "AK2_000002" "g.33487217G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000018" "" "0000015285" "0" "55" "1" "33487247" "33487247" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-28 05:50:32" "AK2_000020" "g.33487247T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015285" "" "0000015286" "0" "11" "1" "33487269" "33487269" "subst" "35" "0.000999539" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 16:18:33" "AK2_000021" "g.33487269C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015286" "" "0000015287" "0" "33" "1" "33487309" "33487309" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-23 03:54:25" "AK2_000022" "g.33487309del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015287" "" "0000015288" "0" "55" "1" "33490063" "33490063" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-28 18:08:10" "AK2_000023" "g.33490063T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015288" "" "0000015289" "0" "99" "1" "33490144" "33490144" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-14 01:51:45" "AK2_000004" "g.33490144del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000020" "" "0000015290" "0" "33" "1" "33502381" "33502381" "subst" "35" "0.00100031" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-07-26 14:18:55" "AK2_000024" "g.33502381G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015290" "" "0000015291" "0" "99" "1" "33502405" "33502405" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-13 23:31:22" "AK2_000010" "g.33502405C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001795" "" "0000015292" "0" "99" "1" "33502429" "33502429" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2024-04-13 23:21:19" "AK2_000006" "g.33502429T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000022" "" "0000023669" "0" "00" "1" "33478832" "33478832" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:35:32" "AK2_000025" "g.33478832G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023670" "0" "00" "1" "33478871" "33478871" "subst" "35" "0.00030755" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-14 00:47:34" "AK2_000026" "g.33478871C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023671" "0" "00" "1" "33480164" "33480164" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-14 00:41:07" "AK2_000027" "g.33480164G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000023672" "0" "00" "1" "33487277" "33487277" "subst" "35" "0.000461326" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2024-04-13 23:44:41" "AK2_000028" "g.33487277T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 170 "{{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}}" "0000000014" "00000423" "99" "670" "3" "670" "3" "c.670+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000014" "00000424" "99" "694" "3" "694" "3" "c.694+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000014" "00000425" "99" "895" "3" "895" "3" "n.895+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000000014" "00000426" "99" "697" "0" "697" "0" "c.697A>T" "6/6" "p.(Lys233*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000014" "00000427" "99" "898" "0" "898" "0" "n.898A>T" "7/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000015" "00000423" "99" "532" "0" "532" "0" "c.532C>T" "6/6" "p.(Arg178Cys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000015" "00000424" "99" "556" "0" "556" "0" "c.556C>T" "6/6" "p.(Arg186Cys)" "r.(?)" "benign(0.015)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000015" "00000425" "99" "757" "0" "757" "0" "n.757C>T" "7/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000015" "00000426" "99" "556" "0" "556" "0" "c.556C>T" "6/6" "p.(Arg186Cys)" "r.(?)" "benign(0.015)" "" "missense_variant" "" "" "deleterious(0.02)" "0000000015" "00000427" "99" "757" "0" "757" "0" "n.757C>T" "7/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000016" "00000423" "99" "524" "0" "524" "0" "c.524T>A" "6/6" "p.(Leu175*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000016" "00000424" "99" "548" "0" "548" "0" "c.548T>A" "6/6" "p.(Leu183*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000016" "00000425" "99" "749" "0" "749" "0" "n.749T>A" "7/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000016" "00000426" "99" "548" "0" "548" "0" "c.548T>A" "6/6" "p.(Leu183*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000016" "00000427" "99" "749" "0" "749" "0" "n.749T>A" "7/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000017" "00000423" "99" "470" "0" "470" "0" "c.470A>G" "5/6" "p.(Asp157Gly)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000017" "00000424" "99" "494" "0" "494" "0" "c.494A>G" "5/6" "p.(Asp165Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000017" "00000425" "99" "695" "0" "695" "0" "n.695A>G" "6/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000017" "00000426" "99" "494" "0" "494" "0" "c.494A>G" "5/6" "p.(Asp165Gly)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000017" "00000427" "99" "695" "0" "695" "0" "n.695A>G" "6/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000018" "00000423" "99" "307" "0" "307" "0" "c.307C>T" "3/6" "p.(Arg103Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000018" "00000424" "99" "307" "0" "307" "0" "c.307C>T" "3/6" "p.(Arg103Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000018" "00000425" "99" "508" "0" "508" "0" "n.508C>T" "4/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000018" "00000426" "99" "307" "0" "307" "0" "c.307C>T" "3/6" "p.(Arg103Trp)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000018" "00000427" "99" "508" "0" "508" "0" "n.508C>T" "4/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000019" "00000423" "99" "307" "0" "307" "0" "c.307C>A" "3/6" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000019" "00000424" "99" "307" "0" "307" "0" "c.307C>A" "3/6" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000019" "00000425" "99" "508" "0" "508" "0" "n.508C>A" "4/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000019" "00000426" "99" "307" "0" "307" "0" "c.307C>A" "3/6" "p.(=)" "r.(=)" "-" "" "synonymous_variant" "" "" "-" "0000000019" "00000427" "99" "508" "0" "508" "0" "n.508C>A" "4/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000020" "00000423" "99" "118" "0" "118" "0" "c.118del" "" "p.(Cys40Valfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000020" "00000424" "99" "118" "0" "118" "0" "c.118del" "" "p.(Cys40Valfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000020" "00000425" "99" "319" "0" "319" "0" "n.319del" "" "" "" "" "" "" "" "" "-" "0000000020" "00000426" "99" "118" "0" "118" "0" "c.118del" "" "p.(Cys40Valfs*5)" "r.(?)" "" "" "" "" "" "-" "0000000020" "00000427" "99" "319" "0" "319" "0" "n.319del" "" "" "" "" "" "" "" "" "-" "0000000021" "00000423" "00" "25" "0" "25" "0" "c.25G>A" "1/6" "p.(Glu9Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000021" "00000424" "00" "25" "0" "25" "0" "c.25G>A" "1/6" "p.(Glu9Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000021" "00000425" "00" "108" "0" "108" "0" "n.108G>A" "1/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000021" "00000426" "00" "25" "0" "25" "0" "c.25G>A" "1/6" "p.(Glu9Lys)" "r.(?)" "-" "" "missense_variant" "" "" "-" "0000000021" "00000427" "00" "108" "0" "108" "0" "n.108G>A" "1/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000022" "00000423" "99" "1" "0" "1" "0" "c.1A>G" "1/6" "p.?" "r.?" "-" "" "initiator_codon_variant" "" "" "-" "0000000022" "00000424" "99" "1" "0" "1" "0" "c.1A>G" "1/6" "p.?" "r.?" "-" "" "initiator_codon_variant" "" "" "-" "0000000022" "00000425" "99" "84" "0" "84" "0" "n.84A>G" "1/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000000022" "00000426" "99" "1" "0" "1" "0" "c.1A>G" "1/6" "p.?" "r.?" "-" "" "initiator_codon_variant" "" "" "-" "0000000022" "00000427" "99" "84" "0" "84" "0" "n.84A>G" "1/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001795" "00000423" "99" "25" "0" "25" "0" "c.25G>T" "1/6" "p.(Glu9*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001795" "00000424" "99" "25" "0" "25" "0" "c.25G>T" "1/6" "p.(Glu9*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001795" "00000425" "99" "108" "0" "108" "0" "n.108G>T" "1/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001795" "00000426" "99" "25" "0" "25" "0" "c.25G>T" "1/6" "p.(Glu9*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000001795" "00000427" "99" "108" "0" "108" "0" "n.108G>T" "1/7" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000015273" "00000423" "00" "670" "3" "670" "3" "c.670+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015273" "00000424" "00" "694" "3" "694" "3" "c.694+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015273" "00000425" "00" "895" "3" "895" "3" "n.895+3A>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015273" "00000426" "00" "697" "0" "697" "0" "c.697A>T" "" "p.(Lys233*)" "r.(?)" "" "" "" "" "" "-" "0000015273" "00000427" "00" "898" "0" "898" "0" "n.898A>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015274" "00000423" "00" "606" "0" "606" "0" "c.606C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015274" "00000424" "00" "630" "0" "630" "0" "c.630C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015274" "00000425" "00" "831" "0" "831" "0" "n.831C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015274" "00000426" "00" "630" "0" "630" "0" "c.630C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015274" "00000427" "00" "831" "0" "831" "0" "n.831C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015275" "00000423" "00" "601" "0" "601" "0" "c.601G>A" "" "p.(Ala201Thr)" "r.(?)" "" "" "" "" "" "-" "0000015275" "00000424" "00" "625" "0" "625" "0" "c.625G>A" "" "p.(Ala209Thr)" "r.(?)" "" "" "" "" "" "-" "0000015275" "00000425" "00" "826" "0" "826" "0" "n.826G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015275" "00000426" "00" "625" "0" "625" "0" "c.625G>A" "" "p.(Ala209Thr)" "r.(?)" "" "" "" "" "" "-" "0000015275" "00000427" "00" "826" "0" "826" "0" "n.826G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015276" "00000423" "00" "579" "0" "579" "0" "c.579C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015276" "00000424" "00" "603" "0" "603" "0" "c.603C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015276" "00000425" "00" "804" "0" "804" "0" "n.804C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015276" "00000426" "00" "603" "0" "603" "0" "c.603C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015276" "00000427" "00" "804" "0" "804" "0" "n.804C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015277" "00000423" "00" "547" "0" "547" "0" "c.547C>G" "" "p.(His183Asp)" "r.(?)" "" "" "" "" "" "-" "0000015277" "00000424" "00" "571" "0" "571" "0" "c.571C>G" "" "p.(His191Asp)" "r.(?)" "" "" "" "" "" "-" "0000015277" "00000425" "00" "772" "0" "772" "0" "n.772C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015277" "00000426" "00" "571" "0" "571" "0" "c.571C>G" "" "p.(His191Asp)" "r.(?)" "" "" "" "" "" "-" "0000015277" "00000427" "00" "772" "0" "772" "0" "n.772C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015278" "00000423" "00" "532" "0" "532" "0" "c.532C>T" "" "p.(Arg178Cys)" "r.(?)" "" "" "" "" "" "-" "0000015278" "00000424" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Arg186Cys)" "r.(?)" "" "" "" "" "" "-" "0000015278" "00000425" "00" "757" "0" "757" "0" "n.757C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015278" "00000426" "00" "556" "0" "556" "0" "c.556C>T" "" "p.(Arg186Cys)" "r.(?)" "" "" "" "" "" "-" "0000015278" "00000427" "00" "757" "0" "757" "0" "n.757C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015279" "00000423" "00" "499" "0" "499" "0" "c.499del" "" "p.(Arg167Aspfs*9)" "r.(?)" "" "" "" "" "" "-" "0000015279" "00000424" "00" "523" "0" "523" "0" "c.523del" "" "p.(Arg175Aspfs*9)" "r.(?)" "" "" "" "" "" "-" "0000015279" "00000425" "00" "724" "0" "724" "0" "n.724del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015279" "00000426" "00" "523" "0" "523" "0" "c.523del" "" "p.(Arg175Aspfs*9)" "r.(?)" "" "" "" "" "" "-" "0000015279" "00000427" "00" "724" "0" "724" "0" "n.724del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015280" "00000423" "00" "480" "0" "480" "0" "c.480C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015280" "00000424" "00" "504" "0" "504" "0" "c.504C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015280" "00000425" "00" "705" "0" "705" "0" "n.705C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015280" "00000426" "00" "504" "0" "504" "0" "c.504C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015280" "00000427" "00" "705" "0" "705" "0" "n.705C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015281" "00000423" "00" "470" "0" "470" "0" "c.470A>G" "" "p.(Asp157Gly)" "r.(?)" "" "" "" "" "" "-" "0000015281" "00000424" "00" "494" "0" "494" "0" "c.494A>G" "" "p.(Asp165Gly)" "r.(?)" "" "" "" "" "" "-" "0000015281" "00000425" "00" "695" "0" "695" "0" "n.695A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015281" "00000426" "00" "494" "0" "494" "0" "c.494A>G" "" "p.(Asp165Gly)" "r.(?)" "" "" "" "" "" "-" "0000015281" "00000427" "00" "695" "0" "695" "0" "n.695A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015282" "00000423" "00" "429" "0" "429" "0" "c.429del" "" "p.(Tyr144Thrfs*12)" "r.(?)" "" "" "" "" "" "-" "0000015282" "00000424" "00" "453" "0" "453" "0" "c.453del" "" "p.(Tyr152Thrfs*12)" "r.(?)" "" "" "" "" "" "-" "0000015282" "00000425" "00" "654" "0" "654" "0" "n.654del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015282" "00000426" "00" "453" "0" "453" "0" "c.453del" "" "p.(Tyr152Thrfs*12)" "r.(?)" "" "" "" "" "" "-" "0000015282" "00000427" "00" "654" "0" "654" "0" "n.654del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015283" "00000423" "00" "386" "0" "386" "0" "c.386G>A" "" "p.(Ser129Asn)" "r.(?)" "" "" "" "" "" "-" "0000015283" "00000424" "00" "386" "0" "386" "0" "c.386G>A" "" "p.(Ser129Asn)" "r.(?)" "" "" "" "" "" "-" "0000015283" "00000425" "00" "587" "0" "587" "0" "n.587G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015283" "00000426" "00" "386" "0" "386" "0" "c.386G>A" "" "p.(Ser129Asn)" "r.(?)" "" "" "" "" "" "-" "0000015283" "00000427" "00" "587" "0" "587" "0" "n.587G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015284" "00000423" "00" "307" "0" "307" "0" "c.307C>T" "" "p.(Arg103Trp)" "r.(?)" "" "" "" "" "" "-" "0000015284" "00000424" "00" "307" "0" "307" "0" "c.307C>T" "" "p.(Arg103Trp)" "r.(?)" "" "" "" "" "" "-" "0000015284" "00000425" "00" "508" "0" "508" "0" "n.508C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015284" "00000426" "00" "307" "0" "307" "0" "c.307C>T" "" "p.(Arg103Trp)" "r.(?)" "" "" "" "" "" "-" "0000015284" "00000427" "00" "508" "0" "508" "0" "n.508C>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015285" "00000423" "00" "277" "0" "277" "0" "c.277A>G" "" "p.(Lys93Glu)" "r.(?)" "" "" "" "" "" "-" "0000015285" "00000424" "00" "277" "0" "277" "0" "c.277A>G" "" "p.(Lys93Glu)" "r.(?)" "" "" "" "" "" "-" "0000015285" "00000425" "00" "478" "0" "478" "0" "n.478A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015285" "00000426" "00" "277" "0" "277" "0" "c.277A>G" "" "p.(Lys93Glu)" "r.(?)" "" "" "" "" "" "-" "0000015285" "00000427" "00" "478" "0" "478" "0" "n.478A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015286" "00000423" "00" "255" "0" "255" "0" "c.255G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015286" "00000424" "00" "255" "0" "255" "0" "c.255G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015286" "00000425" "00" "456" "0" "456" "0" "n.456G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015286" "00000426" "00" "255" "0" "255" "0" "c.255G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000015286" "00000427" "00" "456" "0" "456" "0" "n.456G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015287" "00000423" "00" "220" "-5" "220" "-5" "c.220-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015287" "00000424" "00" "220" "-5" "220" "-5" "c.220-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015287" "00000425" "00" "421" "-5" "421" "-5" "n.421-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015287" "00000426" "00" "220" "-5" "220" "-5" "c.220-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015287" "00000427" "00" "421" "-5" "421" "-5" "n.421-5del" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000015288" "00000423" "00" "199" "0" "199" "0" "c.199A>G" "" "p.(Thr67Ala)" "r.(?)" "" "" "" "" "" "-" "0000015288" "00000424" "00" "199" "0" "199" "0" "c.199A>G" "" "p.(Thr67Ala)" "r.(?)" "" "" "" "" "" "-" "0000015288" "00000425" "00" "400" "0" "400" "0" "n.400A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015288" "00000426" "00" "199" "0" "199" "0" "c.199A>G" "" "p.(Thr67Ala)" "r.(?)" "" "" "" "" "" "-" "0000015288" "00000427" "00" "400" "0" "400" "0" "n.400A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015289" "00000423" "00" "118" "0" "118" "0" "c.118del" "" "p.(Cys40Valfs*5)" "r.(?)" "" "" "" "" "" "-" "0000015289" "00000424" "00" "118" "0" "118" "0" "c.118del" "" "p.(Cys40Valfs*5)" "r.(?)" "" "" "" "" "" "-" "0000015289" "00000425" "00" "319" "0" "319" "0" "n.319del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015289" "00000426" "00" "118" "0" "118" "0" "c.118del" "" "p.(Cys40Valfs*5)" "r.(?)" "" "" "" "" "" "-" "0000015289" "00000427" "00" "319" "0" "319" "0" "n.319del" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015290" "00000423" "00" "49" "0" "49" "0" "c.49C>G" "" "p.(Arg17Gly)" "r.(?)" "" "" "" "" "" "-" "0000015290" "00000424" "00" "49" "0" "49" "0" "c.49C>G" "" "p.(Arg17Gly)" "r.(?)" "" "" "" "" "" "-" "0000015290" "00000425" "00" "132" "0" "132" "0" "n.132C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015290" "00000426" "00" "49" "0" "49" "0" "c.49C>G" "" "p.(Arg17Gly)" "r.(?)" "" "" "" "" "" "-" "0000015290" "00000427" "00" "132" "0" "132" "0" "n.132C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015291" "00000423" "00" "25" "0" "25" "0" "c.25G>T" "" "p.(Glu9*)" "r.(?)" "" "" "" "" "" "-" "0000015291" "00000424" "00" "25" "0" "25" "0" "c.25G>T" "" "p.(Glu9*)" "r.(?)" "" "" "" "" "" "-" "0000015291" "00000425" "00" "108" "0" "108" "0" "n.108G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015291" "00000426" "00" "25" "0" "25" "0" "c.25G>T" "" "p.(Glu9*)" "r.(?)" "" "" "" "" "" "-" "0000015291" "00000427" "00" "108" "0" "108" "0" "n.108G>T" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015292" "00000423" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000015292" "00000424" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000015292" "00000425" "00" "84" "0" "84" "0" "n.84A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000015292" "00000426" "00" "1" "0" "1" "0" "c.1A>G" "" "p.?" "r.?" "" "" "" "" "" "-" "0000015292" "00000427" "00" "84" "0" "84" "0" "n.84A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023669" "00000423" "00" "646" "0" "646" "0" "c.646C>G" "" "p.(Leu216Val)" "r.(?)" "" "" "" "" "" "-" "0000023669" "00000424" "00" "670" "0" "670" "0" "c.670C>G" "" "p.(Leu224Val)" "r.(?)" "" "" "" "" "" "-" "0000023669" "00000425" "00" "871" "0" "871" "0" "n.871C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023669" "00000426" "00" "670" "0" "670" "0" "c.670C>G" "" "p.(Leu224Val)" "r.(?)" "" "" "" "" "" "-" "0000023669" "00000427" "00" "871" "0" "871" "0" "n.871C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023670" "00000423" "00" "607" "0" "607" "0" "c.607G>A" "" "p.(Asp203Asn)" "r.(?)" "" "" "" "" "" "-" "0000023670" "00000424" "00" "631" "0" "631" "0" "c.631G>A" "" "p.(Asp211Asn)" "r.(?)" "" "" "" "" "" "-" "0000023670" "00000425" "00" "832" "0" "832" "0" "n.832G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023670" "00000426" "00" "631" "0" "631" "0" "c.631G>A" "" "p.(Asp211Asn)" "r.(?)" "" "" "" "" "" "-" "0000023670" "00000427" "00" "832" "0" "832" "0" "n.832G>A" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023671" "00000423" "00" "433" "0" "433" "0" "c.433C>G" "" "p.(His145Asp)" "r.(?)" "" "" "" "" "" "-" "0000023671" "00000424" "00" "457" "0" "457" "0" "c.457C>G" "" "p.(His153Asp)" "r.(?)" "" "" "" "" "" "-" "0000023671" "00000425" "00" "658" "0" "658" "0" "n.658C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023671" "00000426" "00" "457" "0" "457" "0" "c.457C>G" "" "p.(His153Asp)" "r.(?)" "" "" "" "" "" "-" "0000023671" "00000427" "00" "658" "0" "658" "0" "n.658C>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023672" "00000423" "00" "247" "0" "247" "0" "c.247A>G" "" "p.(Ile83Val)" "r.(?)" "" "" "" "" "" "-" "0000023672" "00000424" "00" "247" "0" "247" "0" "c.247A>G" "" "p.(Ile83Val)" "r.(?)" "" "" "" "" "" "-" "0000023672" "00000425" "00" "448" "0" "448" "0" "n.448A>G" "" "-" "r.(?)" "" "" "" "" "" "-" "0000023672" "00000426" "00" "247" "0" "247" "0" "c.247A>G" "" "p.(Ile83Val)" "r.(?)" "" "" "" "" "" "-" "0000023672" "00000427" "00" "448" "0" "448" "0" "n.448A>G" "" "-" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0