### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = DGUOK) # 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}}" "DGUOK" "deoxyguanosine kinase" "2" "p13" "unknown" "NC_000002.11" "UD_132085394724" "" "" "" "1" "1" "2858" "1716" "601465" "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 13:44:12" "" "" "" "" "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}}" "00000092" "DGUOK" "transcript variant 1" "001" "NM_080916.1" "" "NP_550438.1" "" "" "" "-85" "1059" "834" "74153953" "74186088" "00001" "2013-11-07 13:47:24" "" "" "" "2" "00000093" "DGUOK" "transcript variant 2" "002" "NM_080918.1" "" "NP_550440.1" "" "" "" "-85" "795" "570" "74153953" "74186088" "00001" "2013-11-07 13:47:24" "" "" "" "2" "00003342" "DGUOK" "transcript variant 1" "001" "NM_080916.2" "" "NP_550438.1" "" "" "" "-85" "1059" "834" "74153953" "74186088" "00000" "2014-09-16 10:55:06" "" "" "" "" ## 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}}" "00031" "MTDPS3" "Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)" "251880" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" "00535" "617070" "Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4, 617070 (3)" "617070" "" "" "" "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}}" "DGUOK" "00031" "DGUOK" "00535" ## 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 = 49 "{{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}}" "0000000833" "0" "77" "2" "74173877" "74173877" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:06" "DGUOK_000001" "g.74173877T>C" "" "" "" "" "subst" "0" ";" "5.680" "" "" "" "" "MSCV_0000833" "" "0000000834" "0" "99" "2" "74173903" "74173903" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-06-26 02:47:28" "DGUOK_000002" "g.74173903C>T" "" "{PMID:12210798:12210798}" "" "rs104893630" "subst" "0" "; clinVar; Ensembl;" "3.810" "" "" "" "" "MSCV_0000834" "" "0000000835" "0" "99" "2" "74174015" "74174015" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 02:26:23" "DGUOK_000003" "g.74174015G>A" "" "{PMID:12205643:12205643}" "" "rs104893631" "subst" "0" "; clinVar; Ensembl;" "5.680" "" "" "" "" "MSCV_0000835" "" "0000000836" "0" "99" "2" "74184339" "74184339" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-07-19 04:36:24" "DGUOK_000004" "g.74184339G>A" "" "{PMID:12205643:12205643}" "" "rs104893632" "subst" "0" "; clinVar; Ensembl;" "5.010" "" "" "" "" "MSCV_0000836" "" "0000000837" "0" "99" "2" "74185328" "74185328" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2014-09-16 10:55:11" "DGUOK_000005" "g.74185328G>T" "" "{PMID:15887277:15887277}" "" "rs104893633" "subst" "0" "; clinVar; Ensembl;" "5.290" "" "" "" "" "MSCV_0000837" "" "0000019205" "0" "00" "2" "74153976" "74153977" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:54:04" "DGUOK_000040" "g.74153976_74153977insAGCG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019205" "" "0000019206" "0" "55" "2" "74153984" "74153984" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:54:08" "DGUOK_000041" "g.74153984C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019206" "" "0000019207" "0" "33" "2" "74153990" "74153990" "subst" "51" "0.0506689" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-11 07:32:11" "DGUOK_000037" "g.74153990G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019207" "" "0000019208" "0" "55" "2" "74154017" "74154017" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 04:34:59" "DGUOK_000038" "g.74154017G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019208" "" "0000019209" "0" "55" "2" "74154030" "74154030" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:48:45" "DGUOK_000039" "g.74154030T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019209" "" "0000019210" "0" "55" "2" "74154037" "74154037" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-07-09 14:57:49" "DGUOK_000028" "g.74154037G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019210" "" "0000019211" "0" "77" "2" "74154160" "74154160" "subst" "35" "0.00284528" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:14:34" "DGUOK_000029" "g.74154160C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019211" "" "0000019212" "0" "99" "2" "74154167" "74154167" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-04 21:16:15" "DGUOK_000030" "g.74154167G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019212" "" "0000019213" "0" "99" "2" "74154174" "74154174" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:14:41" "DGUOK_000031" "g.74154174A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019213" "" "0000019214" "0" "55" "2" "74154180" "74154180" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-01 04:34:59" "DGUOK_000032" "g.74154180G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019214" "" "0000019215" "0" "99" "2" "74166049" "74166049" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:14:53" "DGUOK_000033" "g.74166049C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019215" "" "0000019216" "0" "33" "2" "74166053" "74166053" "subst" "35" "0.0199139" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:14:57" "DGUOK_000034" "g.74166053G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019216" "" "0000019217" "0" "99" "2" "74166080" "74166080" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-11-07 00:44:39" "DGUOK_000035" "g.74166080C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019217" "" "0000019218" "0" "00" "2" "74166145" "74166145" "del" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-31 01:29:43" "DGUOK_000036" "g.74166145del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019218" "" "0000019219" "0" "77" "2" "74173877" "74173877" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 23:15:08" "DGUOK_000001" "g.74173877T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000833" "" "0000019220" "0" "99" "2" "74173903" "74173903" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-08-03 13:52:36" "DGUOK_000002" "g.74173903C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000834" "" "0000019221" "0" "55" "2" "74173927" "74173927" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-07-17 14:27:50" "DGUOK_000006" "g.74173927T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019221" "" "0000019222" "0" "77" "2" "74173943" "74173943" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:35" "DGUOK_000007" "g.74173943G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019222" "" "0000019223" "0" "55" "2" "74173956" "74173956" "subst" "35" "0.000230663" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:39" "DGUOK_000008" "g.74173956G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019223" "" "0000019224" "0" "33" "2" "74174013" "74174013" "subst" "35" "0.0153006" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:43" "DGUOK_000009" "g.74174013G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019224" "" "0000019225" "0" "99" "2" "74174015" "74174015" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:47" "DGUOK_000003" "g.74174015G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000835" "" "0000019226" "0" "99" "2" "74174034" "74174034" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:52" "DGUOK_000010" "g.74174034G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019226" "" "0000019227" "0" "99" "2" "74177701" "74177701" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:08:57" "DGUOK_000011" "g.74177701C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019227" "" "0000019228" "0" "77" "2" "74177730" "74177730" "subst" "35" "0.000384438" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:01" "DGUOK_000012" "g.74177730T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019228" "" "0000019229" "0" "11" "2" "74177777" "74177777" "subst" "35" "0.0166846" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:05" "DGUOK_000013" "g.74177777A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019229" "" "0000019230" "0" "55" "2" "74177836" "74177836" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:09" "DGUOK_000014" "g.74177836A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019230" "" "0000019231" "0" "00" "2" "74184243" "74184243" "del" "35" "0.000159744" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-06-12 21:13:39" "DGUOK_000015" "g.74184243del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019231" "" "0000019232" "0" "00" "2" "74184262" "74184263" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:18" "DGUOK_000016" "g.74184262_74184263del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019232" "" "0000019233" "0" "99" "2" "74184268" "74184269" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:21" "DGUOK_000017" "g.74184268_74184269del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019233" "" "0000019234" "0" "55" "2" "74184290" "74184290" "subst" "35" "0.000461326" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:25" "DGUOK_000018" "g.74184290G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019234" "" "0000019235" "0" "55" "2" "74184324" "74184324" "subst" "51" "0.00030755" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 02:26:23" "DGUOK_000019" "g.74184324C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019235" "" "0000019236" "0" "99" "2" "74184339" "74184339" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:56" "DGUOK_000004" "g.74184339G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000836" "" "0000019237" "0" "77" "2" "74184365" "74184365" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:00" "DGUOK_000020" "g.74184365G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019237" "" "0000019238" "0" "00" "2" "74184365" "74184366" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:04" "DGUOK_000021" "g.74184365_74184366insAAGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019238" "" "0000019239" "0" "77" "2" "74185270" "74185270" "subst" "35" "0.000538213" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:37" "DGUOK_000022" "g.74185270T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019239" "" "0000019240" "0" "99" "2" "74185314" "74185314" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:43" "DGUOK_000023" "g.74185314T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019240" "" "0000019241" "0" "00" "2" "74185326" "74185327" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:47" "DGUOK_000024" "g.74185326_74185327insTGAT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019241" "" "0000019242" "0" "99" "2" "74185328" "74185328" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:10:54" "DGUOK_000005" "g.74185328G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000837" "" "0000019243" "0" "11" "2" "74185876" "74185876" "subst" "51" "0.565354" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-04-24 02:26:23" "DGUOK_000025" "g.74185876A>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019243" "" "0000019244" "0" "55" "2" "74185983" "74185983" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2021-05-27 10:28:16" "DGUOK_000026" "g.74185983G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019244" "" "0000019245" "0" "00" "2" "74186065" "74186066" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:11:37" "DGUOK_000027" "g.74186065_74186066insTTAAG" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0019245" "" "0000025762" "0" "00" "2" "74154041" "74154041" "subst" "35" "0.00338305" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:44:32" "DGUOK_000042" "g.74154041G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025763" "0" "00" "2" "74166105" "74166105" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:44:50" "DGUOK_000043" "g.74166105C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000025764" "0" "00" "2" "74177859" "74177859" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 08:45:08" "DGUOK_000044" "g.74177859G>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 = 147 "{{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}}" "0000000833" "00000092" "55" "287" "0" "287" "0" "c.287T>C" "3/5" "p.(Leu96Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000833" "00000093" "55" "287" "0" "287" "0" "c.287T>C" "3/5" "p.(Leu96Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000833" "00003342" "55" "287" "0" "287" "0" "c.287T>C" "3/5" "p.(Leu96Pro)" "r.(?)" "probably_damaging(1)" "" "missense_variant" "" "" "deleterious(0)" "0000000834" "00000092" "99" "313" "0" "313" "0" "c.313C>T" "3/5" "p.(Arg105*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000834" "00000093" "99" "313" "0" "313" "0" "c.313C>T" "3/5" "p.(Arg105*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000834" "00003342" "99" "313" "0" "313" "0" "c.313C>T" "3/5" "p.(Arg105*)" "r.(?)" "-" "" "stop_gained" "" "" "-" "0000000835" "00000092" "99" "425" "0" "425" "0" "c.425G>A" "3/5" "p.(Arg142Lys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000835" "00000093" "99" "425" "0" "425" "0" "c.425G>A" "3/5" "p.(Arg142Lys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000835" "00003342" "99" "425" "0" "425" "0" "c.425G>A" "3/5" "p.(Arg142Lys)" "r.(?)" "probably_damaging(0.999)" "" "missense_variant" "" "" "deleterious(0)" "0000000836" "00000092" "99" "679" "0" "679" "0" "c.679G>A" "5/7" "p.(Glu227Lys)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000000836" "00000093" "99" "444" "-934" "444" "-934" "c.444-934G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000000836" "00003342" "99" "679" "0" "679" "0" "c.679G>A" "5/7" "p.(Glu227Lys)" "r.(?)" "probably_damaging(0.994)" "" "missense_variant" "" "" "deleterious(0)" "0000000837" "00000092" "99" "763" "0" "763" "0" "c.763G>T" "6/7" "p.(Asp255Tyr)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000000837" "00000093" "99" "499" "0" "499" "0" "c.499G>T" "4/5" "p.(Asp167Tyr)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0.04)" "0000000837" "00003342" "99" "763" "0" "763" "0" "c.763G>T" "6/7" "p.(Asp255Tyr)" "r.(?)" "probably_damaging(0.997)" "" "missense_variant" "" "" "deleterious(0)" "0000019205" "00000092" "00" "-62" "0" "-61" "0" "c.-62_-61insAGCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019205" "00000093" "00" "-62" "0" "-61" "0" "c.-62_-61insAGCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019205" "00003342" "00" "-62" "0" "-61" "0" "c.-62_-61insAGCG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019206" "00000092" "00" "-54" "0" "-54" "0" "c.-54C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019206" "00000093" "00" "-54" "0" "-54" "0" "c.-54C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019206" "00003342" "00" "-54" "0" "-54" "0" "c.-54C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019207" "00000092" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019207" "00000093" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019207" "00003342" "00" "-48" "0" "-48" "0" "c.-48G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019208" "00000092" "00" "-21" "0" "-21" "0" "c.-21G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019208" "00000093" "00" "-21" "0" "-21" "0" "c.-21G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019208" "00003342" "00" "-21" "0" "-21" "0" "c.-21G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019209" "00000092" "00" "-8" "0" "-8" "0" "c.-8T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019209" "00000093" "00" "-8" "0" "-8" "0" "c.-8T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019209" "00003342" "00" "-8" "0" "-8" "0" "c.-8T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019210" "00000092" "00" "-1" "0" "-1" "0" "c.-1G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019210" "00000093" "00" "-1" "0" "-1" "0" "c.-1G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019210" "00003342" "00" "-1" "0" "-1" "0" "c.-1G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019211" "00000092" "00" "123" "0" "123" "0" "c.123C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019211" "00000093" "00" "123" "0" "123" "0" "c.123C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019211" "00003342" "00" "123" "0" "123" "0" "c.123C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019212" "00000092" "00" "130" "0" "130" "0" "c.130G>A" "" "p.(Glu44Lys)" "r.(?)" "" "" "" "" "" "-" "0000019212" "00000093" "00" "130" "0" "130" "0" "c.130G>A" "" "p.(Glu44Lys)" "r.(?)" "" "" "" "" "" "-" "0000019212" "00003342" "00" "130" "0" "130" "0" "c.130G>A" "" "p.(Glu44Lys)" "r.(?)" "" "" "" "" "" "-" "0000019213" "00000092" "00" "137" "0" "137" "0" "c.137A>G" "" "p.(Asn46Ser)" "r.(?)" "" "" "" "" "" "-" "0000019213" "00000093" "00" "137" "0" "137" "0" "c.137A>G" "" "p.(Asn46Ser)" "r.(?)" "" "" "" "" "" "-" "0000019213" "00003342" "00" "137" "0" "137" "0" "c.137A>G" "" "p.(Asn46Ser)" "r.(?)" "" "" "" "" "" "-" "0000019214" "00000092" "00" "142" "1" "142" "1" "c.142+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019214" "00000093" "00" "142" "1" "142" "1" "c.142+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019214" "00003342" "00" "142" "1" "142" "1" "c.142+1G>T" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019215" "00000092" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ser52Phe)" "r.(?)" "" "" "" "" "" "-" "0000019215" "00000093" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ser52Phe)" "r.(?)" "" "" "" "" "" "-" "0000019215" "00003342" "00" "155" "0" "155" "0" "c.155C>T" "" "p.(Ser52Phe)" "r.(?)" "" "" "" "" "" "-" "0000019216" "00000092" "00" "159" "0" "159" "0" "c.159G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019216" "00000093" "00" "159" "0" "159" "0" "c.159G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019216" "00003342" "00" "159" "0" "159" "0" "c.159G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019217" "00000092" "00" "186" "0" "186" "0" "c.186C>A" "" "p.(Tyr62*)" "r.(?)" "" "" "" "" "" "-" "0000019217" "00000093" "00" "186" "0" "186" "0" "c.186C>A" "" "p.(Tyr62*)" "r.(?)" "" "" "" "" "" "-" "0000019217" "00003342" "00" "186" "0" "186" "0" "c.186C>A" "" "p.(Tyr62*)" "r.(?)" "" "" "" "" "" "-" "0000019218" "00000092" "00" "251" "0" "251" "0" "c.251del" "" "p.(Ala86Profs*13)" "r.(?)" "" "" "" "" "" "-" "0000019218" "00000093" "00" "251" "0" "251" "0" "c.251del" "" "p.(Ala86Profs*13)" "r.(?)" "" "" "" "" "" "-" "0000019218" "00003342" "00" "251" "0" "251" "0" "c.251del" "" "p.(Ala86Profs*13)" "r.(?)" "" "" "" "" "" "-" "0000019219" "00000092" "00" "287" "0" "287" "0" "c.287T>C" "" "p.(Leu96Pro)" "r.(?)" "" "" "" "" "" "-" "0000019219" "00000093" "00" "287" "0" "287" "0" "c.287T>C" "" "p.(Leu96Pro)" "r.(?)" "" "" "" "" "" "-" "0000019219" "00003342" "00" "287" "0" "287" "0" "c.287T>C" "" "p.(Leu96Pro)" "r.(?)" "" "" "" "" "" "-" "0000019220" "00000092" "00" "313" "0" "313" "0" "c.313C>T" "" "p.(Arg105*)" "r.(?)" "" "" "" "" "" "-" "0000019220" "00000093" "00" "313" "0" "313" "0" "c.313C>T" "" "p.(Arg105*)" "r.(?)" "" "" "" "" "" "-" "0000019220" "00003342" "00" "313" "0" "313" "0" "c.313C>T" "" "p.(Arg105*)" "r.(?)" "" "" "" "" "" "-" "0000019221" "00000092" "00" "337" "0" "337" "0" "c.337T>C" "" "p.(Phe113Leu)" "r.(?)" "" "" "" "" "" "-" "0000019221" "00000093" "00" "337" "0" "337" "0" "c.337T>C" "" "p.(Phe113Leu)" "r.(?)" "" "" "" "" "" "-" "0000019221" "00003342" "00" "337" "0" "337" "0" "c.337T>C" "" "p.(Phe113Leu)" "r.(?)" "" "" "" "" "" "-" "0000019222" "00000092" "00" "353" "0" "353" "0" "c.353G>A" "" "p.(Arg118His)" "r.(?)" "" "" "" "" "" "-" "0000019222" "00000093" "00" "353" "0" "353" "0" "c.353G>A" "" "p.(Arg118His)" "r.(?)" "" "" "" "" "" "-" "0000019222" "00003342" "00" "353" "0" "353" "0" "c.353G>A" "" "p.(Arg118His)" "r.(?)" "" "" "" "" "" "-" "0000019223" "00000092" "00" "366" "0" "366" "0" "c.366G>C" "" "p.(Gln122His)" "r.(?)" "" "" "" "" "" "-" "0000019223" "00000093" "00" "366" "0" "366" "0" "c.366G>C" "" "p.(Gln122His)" "r.(?)" "" "" "" "" "" "-" "0000019223" "00003342" "00" "366" "0" "366" "0" "c.366G>C" "" "p.(Gln122His)" "r.(?)" "" "" "" "" "" "-" "0000019224" "00000092" "00" "423" "0" "423" "0" "c.423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019224" "00000093" "00" "423" "0" "423" "0" "c.423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019224" "00003342" "00" "423" "0" "423" "0" "c.423G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019225" "00000092" "00" "425" "0" "425" "0" "c.425G>A" "" "p.(Arg142Lys)" "r.(?)" "" "" "" "" "" "-" "0000019225" "00000093" "00" "425" "0" "425" "0" "c.425G>A" "" "p.(Arg142Lys)" "r.(?)" "" "" "" "" "" "-" "0000019225" "00003342" "00" "425" "0" "425" "0" "c.425G>A" "" "p.(Arg142Lys)" "r.(?)" "" "" "" "" "" "-" "0000019226" "00000092" "00" "443" "1" "443" "1" "c.443+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019226" "00000093" "00" "443" "1" "443" "1" "c.443+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019226" "00003342" "00" "443" "1" "443" "1" "c.443+1G>A" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019227" "00000092" "00" "444" "-11" "444" "-11" "c.444-11C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019227" "00000093" "00" "443" "3668" "443" "3668" "c.443+3668C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019227" "00003342" "00" "444" "-11" "444" "-11" "c.444-11C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019228" "00000092" "00" "462" "0" "462" "0" "c.462T>A" "" "p.(Asn154Lys)" "r.(?)" "" "" "" "" "" "-" "0000019228" "00000093" "00" "443" "3697" "443" "3697" "c.443+3697T>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019228" "00003342" "00" "462" "0" "462" "0" "c.462T>A" "" "p.(Asn154Lys)" "r.(?)" "" "" "" "" "" "-" "0000019229" "00000092" "00" "509" "0" "509" "0" "c.509A>G" "" "p.(Gln170Arg)" "r.(?)" "" "" "" "" "" "-" "0000019229" "00000093" "00" "443" "3744" "443" "3744" "c.443+3744A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019229" "00003342" "00" "509" "0" "509" "0" "c.509A>G" "" "p.(Gln170Arg)" "r.(?)" "" "" "" "" "" "-" "0000019230" "00000092" "00" "568" "0" "568" "0" "c.568A>T" "" "p.(Ile190Phe)" "r.(?)" "" "" "" "" "" "-" "0000019230" "00000093" "00" "443" "3803" "443" "3803" "c.443+3803A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019230" "00003342" "00" "568" "0" "568" "0" "c.568A>T" "" "p.(Ile190Phe)" "r.(?)" "" "" "" "" "" "-" "0000019231" "00000092" "00" "592" "-9" "592" "-9" "c.592-9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019231" "00000093" "00" "444" "-1030" "444" "-1030" "c.444-1030del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019231" "00003342" "00" "592" "-9" "592" "-9" "c.592-9del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019232" "00000092" "00" "602" "0" "603" "0" "c.602_603del" "" "p.(Arg202Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000019232" "00000093" "00" "444" "-1011" "444" "-1010" "c.444-1011_444-1010del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019232" "00003342" "00" "602" "0" "603" "0" "c.602_603del" "" "p.(Arg202Thrfs*13)" "r.(?)" "" "" "" "" "" "-" "0000019233" "00000092" "00" "608" "0" "609" "0" "c.608_609del" "" "p.(Tyr204Profs*11)" "r.(?)" "" "" "" "" "" "-" "0000019233" "00000093" "00" "444" "-1005" "444" "-1004" "c.444-1005_444-1004del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019233" "00003342" "00" "608" "0" "609" "0" "c.608_609del" "" "p.(Tyr204Profs*11)" "r.(?)" "" "" "" "" "" "-" "0000019234" "00000092" "00" "630" "0" "630" "0" "c.630G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019234" "00000093" "00" "444" "-983" "444" "-983" "c.444-983G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019234" "00003342" "00" "630" "0" "630" "0" "c.630G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019235" "00000092" "00" "664" "0" "664" "0" "c.664C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019235" "00000093" "00" "444" "-949" "444" "-949" "c.444-949C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019235" "00003342" "00" "664" "0" "664" "0" "c.664C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019236" "00000092" "00" "679" "0" "679" "0" "c.679G>A" "" "p.(Glu227Lys)" "r.(?)" "" "" "" "" "" "-" "0000019236" "00000093" "00" "444" "-934" "444" "-934" "c.444-934G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019236" "00003342" "00" "679" "0" "679" "0" "c.679G>A" "" "p.(Glu227Lys)" "r.(?)" "" "" "" "" "" "-" "0000019237" "00000092" "00" "705" "0" "705" "0" "c.705G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019237" "00000093" "00" "444" "-908" "444" "-908" "c.444-908G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019237" "00003342" "00" "705" "0" "705" "0" "c.705G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019238" "00000092" "00" "705" "0" "706" "0" "c.705_706insAAGT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019238" "00000093" "00" "444" "-908" "444" "-907" "c.444-908_444-907insAAGT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019238" "00003342" "00" "705" "0" "706" "0" "c.705_706insAAGT" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019239" "00000092" "00" "708" "-3" "708" "-3" "c.708-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019239" "00000093" "00" "444" "-3" "444" "-3" "c.444-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019239" "00003342" "00" "708" "-3" "708" "-3" "c.708-3T>C" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000019240" "00000092" "00" "749" "0" "749" "0" "c.749T>C" "" "p.(Leu250Ser)" "r.(?)" "" "" "" "" "" "-" "0000019240" "00000093" "00" "485" "0" "485" "0" "c.485T>C" "" "p.(Leu162Ser)" "r.(?)" "" "" "" "" "" "-" "0000019240" "00003342" "00" "749" "0" "749" "0" "c.749T>C" "" "p.(Leu250Ser)" "r.(?)" "" "" "" "" "" "-" "0000019241" "00000092" "00" "761" "0" "762" "0" "c.761_762insTGAT" "" "p.(Phe256*)" "r.(?)" "" "" "" "" "" "-" "0000019241" "00000093" "00" "497" "0" "498" "0" "c.497_498insTGAT" "" "p.(Phe168*)" "r.(?)" "" "" "" "" "" "-" "0000019241" "00003342" "00" "761" "0" "762" "0" "c.761_762insTGAT" "" "p.(Phe256*)" "r.(?)" "" "" "" "" "" "-" "0000019242" "00000092" "00" "763" "0" "763" "0" "c.763G>T" "" "p.(Asp255Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019242" "00000093" "00" "499" "0" "499" "0" "c.499G>T" "" "p.(Asp167Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019242" "00003342" "00" "763" "0" "763" "0" "c.763G>T" "" "p.(Asp255Tyr)" "r.(?)" "" "" "" "" "" "-" "0000019243" "00000092" "00" "847" "0" "847" "0" "c.*13A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019243" "00000093" "00" "583" "0" "583" "0" "c.*13A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019243" "00003342" "00" "847" "0" "847" "0" "c.*13A>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019244" "00000092" "00" "954" "0" "954" "0" "c.*120G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019244" "00000093" "00" "690" "0" "690" "0" "c.*120G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019244" "00003342" "00" "954" "0" "954" "0" "c.*120G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019245" "00000092" "00" "1036" "0" "1037" "0" "c.*202_*203insTTAAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019245" "00000093" "00" "772" "0" "773" "0" "c.*202_*203insTTAAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000019245" "00003342" "00" "1036" "0" "1037" "0" "c.*202_*203insTTAAG" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025762" "00000092" "00" "4" "0" "4" "0" "c.4G>T" "" "p.(Ala2Ser)" "r.(?)" "" "" "" "" "" "-" "0000025762" "00000093" "00" "4" "0" "4" "0" "c.4G>T" "" "p.(Ala2Ser)" "r.(?)" "" "" "" "" "" "-" "0000025762" "00003342" "00" "4" "0" "4" "0" "c.4G>T" "" "p.(Ala2Ser)" "r.(?)" "" "" "" "" "" "-" "0000025763" "00000092" "00" "211" "0" "211" "0" "c.211C>G" "" "p.(Pro71Ala)" "r.(?)" "" "" "" "" "" "-" "0000025763" "00000093" "00" "211" "0" "211" "0" "c.211C>G" "" "p.(Pro71Ala)" "r.(?)" "" "" "" "" "" "-" "0000025763" "00003342" "00" "211" "0" "211" "0" "c.211C>G" "" "p.(Pro71Ala)" "r.(?)" "" "" "" "" "" "-" "0000025764" "00000092" "00" "591" "0" "591" "0" "c.591G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025764" "00000093" "00" "443" "3826" "443" "3826" "c.443+3826G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000025764" "00003342" "00" "591" "0" "591" "0" "c.591G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0