### LOVD-version 3000-270 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = IDUA) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "IDUA" "alpha-L-iduronidase" "4" "p16.3" "unknown" "NG_008103.1" "UD_144476118058" "" "" "" "1" "5391" "3425" "252800" "0" "0" "0" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-14 00:00:00" "00001" "2020-12-18 21:39:53" "00001" "2022-05-22 23:31:07" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00000001" "IDUA" "iduronidase, alpha-L-" "001" "NM_000203.3" "" "NP_000194.2" "" "" "" "-88" "2098" "1962" "980785" "998317" "00001" "2020-12-13 23:07:55" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 2 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00001" "MPS I" "Mucopolysaccharidosis type I" "AR" "607014" "" "" "" "00001" "2020-12-14 07:15:15" "00001" "2021-01-02 22:13:14" "00008" "MPS IVA" "Mucopolysaccharidosis type IVA" "AR" "253000" "" "" "" "00001" "2020-12-16 05:57:22" "00001" "2020-12-19 04:30:31" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "IDUA" "00001" ## Individuals ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Origin/Geographic}}" "{{Individual/Consanguinity}}" "00000002" "" "" "" "1" "" "00001" "" "Female, diagnosed as having MPS 1H at age 14 month. Molecular diagnosis at age 7 years old. Using NGS panel for metabolic disorders." "F" "Iran" "yes" "00000018" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000026" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000031" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000033" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000036" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000042" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000043" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000045" "" "" "" "1" "" "00001" "" "" "F" "Iran" "no" "00000048" "" "" "" "1" "" "00001" "" "" "F" "Iran" "" "00000051" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000059" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000060" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000063" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000065" "" "" "" "1" "" "00001" "" "" "M" "Iran" "" "00000068" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000086" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000087" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000089" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000096" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000101" "" "" "" "1" "" "00001" "" "" "M" "Iran" "" "00000104" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000107" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000111" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000115" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000116" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000120" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000127" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000128" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000135" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000137" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000147" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000151" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000155" "" "" "" "1" "" "00001" "" "" "M" "Iran" "" "00000156" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000163" "" "" "" "1" "" "00001" "" "" "F" "Iran" "no" "00000168" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000169" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000170" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000171" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000175" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000186" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000187" "" "" "" "1" "" "00001" "" "" "F" "Iran" "" "00000191" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000194" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000198" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000199" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000200" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000202" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000203" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000206" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000215" "" "" "" "1" "" "00001" "" "" "M" "Iran" "no" "00000216" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000219" "" "" "" "1" "" "00001" "" "" "" "Iran" "yes" "00000222" "" "" "" "1" "" "00001" "" "" "F" "Iran" "no" "00000223" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000227" "" "" "" "1" "" "00001" "" "" "M" "Iran" "yes" "00000232" "" "" "" "1" "" "00001" "" "" "F" "Iran" "yes" "00000243" "" "" "" "1" "" "00001" "" "" "F" "Iran" "no" "00000244" "" "" "" "1" "" "00001" "" "" "F" "Iran" "no" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00000002" "00001" "00000018" "00001" "00000026" "00001" "00000031" "00001" "00000033" "00001" "00000036" "00001" "00000042" "00001" "00000043" "00001" "00000045" "00001" "00000048" "00001" "00000051" "00001" "00000059" "00001" "00000060" "00001" "00000063" "00001" "00000065" "00001" "00000068" "00001" "00000086" "00001" "00000087" "00001" "00000089" "00001" "00000096" "00001" "00000101" "00001" "00000104" "00001" "00000107" "00001" "00000111" "00001" "00000115" "00001" "00000116" "00001" "00000120" "00001" "00000127" "00001" "00000128" "00001" "00000135" "00001" "00000137" "00001" "00000147" "00001" "00000151" "00001" "00000155" "00001" "00000156" "00001" "00000163" "00001" "00000168" "00001" "00000169" "00001" "00000170" "00001" "00000171" "00001" "00000175" "00001" "00000186" "00001" "00000187" "00001" "00000191" "00001" "00000194" "00001" "00000198" "00001" "00000199" "00008" "00000200" "00001" "00000202" "00001" "00000203" "00001" "00000206" "00001" "00000215" "00001" "00000216" "00001" "00000219" "00001" "00000222" "00001" "00000223" "00001" "00000227" "00001" "00000232" "00001" "00000243" "00001" "00000244" "00001" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00001, 00008 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000002" "00000002" "1" "00001" "00001" "2020-12-15 06:39:21" "" "" "SEQ-NG" "DNA" "0000000020" "00000018" "1" "00001" "00001" "2020-12-18 20:03:25" "" "" "SEQ-NG" "DNA" "0000000028" "00000026" "1" "00001" "00001" "2020-12-19 00:21:03" "" "" "SEQ-NG" "DNA" "0000000033" "00000031" "1" "00001" "00001" "2020-12-19 02:37:27" "" "" "SEQ-NG" "DNA" "0000000036" "00000033" "1" "00001" "00001" "2020-12-19 09:17:36" "" "" "SEQ-NG" "DNA" "0000000039" "00000036" "1" "00001" "00001" "2020-12-19 11:28:36" "" "" "SEQ-NG" "DNA" "0000000045" "00000042" "1" "00001" "00001" "2020-12-19 15:56:19" "" "" "SEQ-NG" "DNA" "0000000046" "00000043" "1" "00001" "00001" "2020-12-19 16:12:02" "" "" "SEQ-NG" "DNA" "0000000048" "00000045" "1" "00001" "00001" "2020-12-20 00:27:34" "" "" "SEQ-NG" "DNA" "0000000051" "00000048" "1" "00001" "00001" "2020-12-20 01:04:19" "" "" "SEQ-NG" "DNA" "0000000054" "00000051" "1" "00001" "00001" "2020-12-20 02:32:45" "" "" "SEQ-NG" "DNA" "0000000062" "00000059" "1" "00001" "00001" "2020-12-20 08:03:02" "" "" "SEQ-NG" "DNA" "0000000063" "00000060" "1" "00001" "00001" "2020-12-20 18:00:36" "" "" "SEQ" "DNA" "0000000066" "00000063" "1" "00001" "00001" "2020-12-20 23:30:11" "" "" "SEQ-NG" "DNA" "0000000068" "00000065" "1" "00001" "00001" "2020-12-21 01:03:46" "" "" "SEQ-NG" "DNA" "0000000071" "00000068" "1" "00001" "00001" "2020-12-21 02:52:40" "" "" "SEQ-NG" "DNA" "0000000089" "00000086" "1" "00001" "00001" "2020-12-22 02:11:50" "" "" "SEQ-NG" "DNA" "0000000090" "00000087" "1" "00001" "00001" "2020-12-22 03:12:20" "" "" "SEQ" "DNA" "0000000092" "00000089" "1" "00001" "00001" "2020-12-22 03:37:35" "" "" "SEQ" "DNA" "0000000099" "00000096" "1" "00001" "00001" "2020-12-22 18:03:11" "" "" "SEQ" "DNA" "0000000104" "00000101" "1" "00001" "00001" "2020-12-23 02:37:11" "" "" "SEQ-NG" "DNA" "0000000107" "00000104" "1" "00001" "00001" "2020-12-23 06:36:28" "" "" "SEQ-NG" "DNA" "0000000110" "00000107" "1" "00001" "00001" "2020-12-23 13:26:06" "" "" "SEQ-NG" "DNA" "0000000114" "00000111" "1" "00001" "00001" "2020-12-23 14:01:28" "" "" "SEQ-NG" "DNA" "0000000118" "00000115" "1" "00001" "00001" "2020-12-23 16:52:50" "" "" "SEQ" "DNA" "0000000119" "00000116" "1" "00001" "00001" "2020-12-23 17:04:53" "" "" "SEQ" "DNA" "0000000123" "00000120" "1" "00001" "00001" "2020-12-24 01:17:10" "" "" "SEQ-NG" "DNA" "0000000130" "00000127" "1" "00001" "00001" "2020-12-24 04:57:36" "" "" "SEQ-NG" "DNA" "0000000131" "00000128" "1" "00001" "00001" "2020-12-24 05:56:11" "" "" "SEQ" "DNA" "0000000138" "00000135" "1" "00001" "00001" "2020-12-24 20:40:21" "" "" "SEQ-NG" "DNA" "0000000140" "00000137" "1" "00001" "00001" "2020-12-24 21:16:46" "" "" "SEQ-NG" "DNA" "0000000150" "00000147" "1" "00001" "00001" "2020-12-25 04:07:08" "" "" "SEQ" "DNA" "0000000155" "00000151" "1" "00001" "00001" "2020-12-25 19:51:59" "" "" "SEQ-NG" "DNA" "0000000159" "00000155" "1" "00001" "00001" "2020-12-25 21:22:43" "" "" "SEQ-NG" "DNA" "0000000160" "00000156" "1" "00001" "00001" "2020-12-25 21:27:44" "" "" "SEQ-NG" "DNA" "0000000167" "00000163" "1" "00001" "00001" "2020-12-26 02:20:07" "" "" "SEQ-NG" "DNA" "0000000172" "00000168" "1" "00001" "00001" "2020-12-26 07:29:42" "" "" "SEQ-NG" "DNA" "0000000173" "00000169" "1" "00001" "00001" "2020-12-26 07:34:38" "" "" "SEQ" "DNA" "0000000174" "00000170" "1" "00001" "00001" "2020-12-26 07:39:46" "" "" "SEQ-NG" "DNA" "0000000175" "00000171" "1" "00001" "00001" "2020-12-26 07:47:31" "" "" "SEQ" "DNA" "0000000179" "00000175" "1" "00001" "00001" "2020-12-26 08:45:53" "" "" "arraySEQ" "DNA" "0000000190" "00000186" "1" "00001" "00001" "2020-12-26 21:25:30" "" "" "SEQ-NG" "DNA" "0000000191" "00000187" "1" "00001" "00001" "2020-12-26 22:39:45" "" "" "SEQ" "DNA" "0000000195" "00000191" "1" "00001" "00001" "2020-12-27 01:18:52" "" "" "SEQ-NG" "DNA" "0000000198" "00000194" "1" "00001" "00001" "2020-12-27 02:39:01" "" "" "SEQ-NG" "DNA" "0000000202" "00000198" "1" "00001" "00001" "2020-12-27 19:41:19" "" "" "SEQ-NG" "DNA" "0000000204" "00000200" "1" "00001" "00001" "2020-12-27 20:07:10" "" "" "SEQ-NG" "DNA" "0000000206" "00000202" "1" "00001" "00001" "2020-12-27 21:01:11" "" "" "SEQ-NG" "DNA" "0000000207" "00000203" "1" "00001" "00001" "2020-12-27 21:05:44" "" "" "SEQ-NG" "DNA" "0000000210" "00000206" "1" "00001" "00001" "2020-12-27 21:22:25" "" "" "SEQ" "DNA" "0000000218" "00000215" "1" "00001" "00001" "2020-12-27 23:06:32" "" "" "SEQ-NG" "DNA" "0000000219" "00000216" "1" "00001" "00001" "2020-12-28 00:34:48" "" "" "SEQ-NG" "DNA" "0000000222" "00000219" "1" "00001" "00001" "2020-12-28 02:48:30" "" "" "SEQ-NG" "DNA" "0000000225" "00000222" "1" "00001" "00001" "2020-12-28 04:54:07" "" "" "SEQ-NG" "DNA" "0000000226" "00000223" "1" "00001" "00001" "2020-12-28 05:04:17" "" "" "SEQ-NG" "DNA" "0000000230" "00000227" "1" "00001" "00001" "2020-12-28 06:38:39" "" "" "SEQ-NG" "DNA" "0000000235" "00000232" "1" "00001" "00001" "2020-12-28 07:03:34" "" "" "SEQ-NG" "DNA" "0000000246" "00000243" "1" "00001" "00001" "2020-12-29 04:28:04" "" "" "SEQ-NG" "DNA" "0000000247" "00000244" "1" "00001" "00001" "2020-12-29 06:30:41" "" "" "SEQ-NG" "DNA" "0000000273" "00000199" "1" "00001" "00001" "2021-06-07 01:43:52" "" "" "SEQ-NG" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{geneid}}" "0000000002" "IDUA" "0000000020" "IDUA" "0000000028" "IDUA" "0000000033" "IDUA" "0000000036" "IDUA" "0000000039" "IDUA" "0000000045" "IDUA" "0000000046" "IDUA" "0000000048" "IDUA" "0000000051" "IDUA" "0000000054" "IDUA" "0000000062" "IDUA" "0000000063" "IDUA" "0000000066" "IDUA" "0000000068" "IDUA" "0000000071" "IDUA" "0000000089" "IDUA" "0000000090" "IDUA" "0000000092" "IDUA" "0000000099" "IDUA" "0000000104" "IDUA" "0000000107" "IDUA" "0000000110" "IDUA" "0000000114" "IDUA" "0000000118" "IDUA" "0000000119" "IDUA" "0000000123" "IDUA" "0000000130" "IDUA" "0000000131" "IDUA" "0000000138" "IDUA" "0000000140" "IDUA" "0000000150" "IDUA" "0000000155" "IDUA" "0000000159" "IDUA" "0000000160" "IDUA" "0000000167" "IDUA" "0000000172" "IDUA" "0000000173" "IDUA" "0000000174" "IDUA" "0000000175" "IDUA" "0000000179" "IDUA" "0000000190" "IDUA" "0000000191" "IDUA" "0000000195" "IDUA" "0000000198" "IDUA" "0000000202" "IDUA" "0000000204" "IDUA" "0000000206" "IDUA" "0000000207" "IDUA" "0000000210" "IDUA" "0000000218" "IDUA" "0000000219" "IDUA" "0000000222" "IDUA" "0000000225" "IDUA" "0000000226" "IDUA" "0000000230" "IDUA" "0000000235" "IDUA" "0000000246" "IDUA" "0000000247" "IDUA" "0000000273" "IDUA" ## 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 = 66 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Reference}}" "0000000004" "3" "09" "4" "997815" "997815" "subst" "0" "00001" "IDUA_000001" "g.997815C>A" "" "0000000224" "3" "99" "4" "981024" "981024" "subst" "0" "00001" "IDUA_000003" "g.981024G>A" "" "0000000235" "3" "00" "4" "995489" "995492" "dup" "0" "00001" "IDUA_000004" "g.995489_995492dup" "" "0000000240" "3" "90" "4" "995285" "995285" "subst" "0" "00001" "IDUA_000005" "g.995285T>C" "" "0000000242" "3" "09" "4" "996172" "996173" "dup" "0" "00001" "IDUA_000006" "g.996172_996173dup" "" "0000000245" "3" "00" "4" "996259" "996259" "subst" "0" "00001" "IDUA_000007" "g.996259T>C" "" "0000000252" "3" "00" "4" "994753" "994753" "subst" "0" "00001" "IDUA_000008" "g.994753T>C" "" "0000000253" "3" "00" "4" "996890" "996890" "subst" "0" "00001" "IDUA_000009" "g.996890T>C" "" "0000000256" "3" "00" "4" "981688" "981688" "subst" "0" "00001" "IDUA_000010" "g.981688G>C" "" "0000000259" "3" "00" "4" "995285" "995285" "subst" "0" "00001" "IDUA_000005" "g.995285T>C" "" "0000000262" "3" "00" "4" "996943" "996943" "subst" "0" "00001" "IDUA_000011" "g.996943G>A" "" "0000000272" "3" "00" "4" "997206" "997206" "subst" "0.0000574335" "00001" "IDUA_000012" "g.997206C>G" "" "0000000273" "3" "09" "4" "980873" "996273" "del" "0" "00001" "IDUA_000013" "g.980873_996273del" "" "0000000276" "3" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000278" "1" "99" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000279" "2" "00" "4" "994753" "994753" "subst" "0" "00001" "IDUA_000008" "g.994753T>C" "" "0000000282" "3" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000300" "3" "99" "4" "997206" "997206" "subst" "0.0000574335" "00001" "IDUA_000012" "g.997206C>G" "" "0000000301" "3" "99" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000303" "1" "00" "4" "994753" "994753" "subst" "0" "00001" "IDUA_000008" "g.994753T>C" "" "0000000304" "2" "00" "4" "995285" "995305" "del" "0" "00001" "IDUA_000015" "g.995285_995305del" "" "0000000311" "3" "00" "4" "981704" "981704" "subst" "0" "00001" "IDUA_000016" "g.981704G>A" "" "0000000318" "3" "00" "4" "997395" "997395" "subst" "0" "00001" "IDUA_000017" "g.997395A>T" "" "0000000321" "1" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000322" "2" "00" "4" "981024" "981024" "subst" "0" "00001" "IDUA_000003" "g.981024G>A" "" "0000000325" "3" "00" "4" "994753" "994753" "subst" "0" "00001" "IDUA_000008" "g.994753T>C" "" "0000000329" "3" "00" "4" "998112" "998112" "del" "0" "00001" "IDUA_000018" "g.998112del" "" "0000000334" "3" "00" "4" "995492" "995492" "subst" "0" "00001" "IDUA_000019" "g.995492C>G" "" "0000000335" "3" "00" "4" "994486" "994486" "subst" "0" "00001" "IDUA_000020" "g.994486G>A" "" "0000000339" "3" "00" "4" "997263" "997263" "subst" "0" "00001" "IDUA_000021" "g.997263G>A" "" "0000000345" "3" "00" "4" "998117" "998117" "subst" "0" "00001" "IDUA_000022" "g.998117C>A" "" "0000000346" "3" "99" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000353" "3" "00" "4" "997263" "997263" "subst" "0" "00001" "IDUA_000021" "g.997263G>A" "" "0000000355" "3" "00" "4" "996552" "996552" "dup" "0" "00001" "IDUA_000023" "g.996552dup" "" "0000000366" "3" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000370" "3" "09" "4" "980918" "980929" "del" "0" "00001" "IDUA_000024" "g.980918_980929del" "" "0000000371" "3" "00" "4" "980930" "980930" "subst" "0" "00001" "IDUA_000025" "g.980930G>T" "" "0000000375" "3" "00" "4" "995306" "995306" "subst" "0" "00001" "IDUA_000026" "g.995306G>C" "" "0000000376" "3" "00" "4" "980884" "980891" "del" "0" "00001" "IDUA_000027" "g.980884_980891del" "" "0000000383" "1" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000388" "3" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000389" "3" "00" "4" "997419" "997419" "subst" "0" "00001" "IDUA_000028" "g.997419T>A" "" "0000000390" "3" "00" "4" "995255" "995255" "subst" "0.00000406587" "00001" "IDUA_000029" "g.995255G>A" "" "0000000391" "3" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000396" "3" "00" "4" "995484" "995484" "subst" "0" "00001" "IDUA_000030" "g.995484G>A" "" "0000000409" "3" "00" "4" "996908" "996908" "subst" "0" "00001" "IDUA_000031" "g.996908C>T" "" "0000000410" "3" "00" "4" "996519" "996519" "del" "0" "00001" "IDUA_000032" "g.996519del" "" "0000000414" "3" "00" "4" "998048" "998054" "del" "0" "00001" "IDUA_000033" "g.998048_998054del" "" "0000000417" "3" "00" "4" "997206" "997206" "subst" "0.0000574335" "00001" "IDUA_000012" "g.997206C>G" "" "0000000422" "3" "00" "4" "998080" "998080" "subst" "0.0000246158" "00001" "IDUA_000034" "g.998080C>T" "" "0000000424" "3" "00" "4" "981704" "981704" "subst" "0" "00001" "IDUA_000016" "g.981704G>A" "" "0000000425" "3" "00" "4" "996129" "996131" "del" "0" "00001" "IDUA_000035" "g.996129_996131del" "" "0000000427" "3" "00" "4" "980922" "980933" "del" "0" "00001" "IDUA_000036" "g.980922_980933del" "" "0000000428" "3" "99" "4" "998107" "998107" "subst" "0" "00001" "IDUA_000037" "g.998107G>C" "" "0000000431" "3" "00" "4" "996133" "996133" "subst" "0" "00001" "IDUA_000038" "g.996133A>G" "" "0000000439" "3" "00" "4" "995863" "995871" "dup" "0" "00001" "IDUA_000039" "g.995863_995871dup" "" "0000000440" "3" "00" "4" "997206" "997206" "subst" "0.0000574335" "00001" "IDUA_000012" "g.997206C>G" "" "0000000443" "3" "00" "4" "996535" "996535" "subst" "0.000584204" "00001" "IDUA_000040" "g.996535G>A" "" "0000000446" "1" "00" "4" "996188" "996189" "del" "0" "00001" "IDUA_000041" "g.996188_996189delCT" "" "0000000447" "2" "00" "4" "995533" "995533" "subst" "0" "00001" "IDUA_000042" "g.995533G>A" "" "0000000448" "3" "00" "4" "996168" "996168" "subst" "0" "00001" "IDUA_000043" "g.996168C>T" "" "0000000452" "3" "00" "4" "997171" "997171" "dup" "0" "00001" "IDUA_000047" "g.997171dup" "" "0000000457" "3" "00" "4" "996129" "996131" "del" "0" "00001" "IDUA_000045" "g.996129_996131del" "" "0000000470" "3" "00" "4" "980873" "980873" "subst" "0" "00001" "IDUA_000014" "g.980873A>C" "" "0000000471" "3" "00" "4" "997170" "997171" "ins" "0" "00001" "IDUA_000044" "g.997170_997171insC" "" "0000000497" "3" "00" "4" "995783" "995783" "subst" "0.000383498" "00001" "IDUA_000046" "g.995783C>G" "" ## 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. ## Note: Only showing Variants_On_Transcript columns active for Genes IDUA ## Count = 66 "{{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/Clinicalclassification}}" "0000000004" "00000001" "09" "1743" "0" "1743" "0" "c.1743C>A" "13" "p.(Tyr581*)" "r.(?)" "likely pathogenic" "0000000224" "00000001" "99" "152" "0" "152" "0" "c.152G>A" "" "p.(Gly51Asp)" "r.(?)" "pathogenic" "0000000235" "00000001" "00" "612" "0" "615" "0" "c.612_615dup" "" "p.(Ser206Leufs*194)" "r.(?)" "pathogenic" "0000000240" "00000001" "90" "523" "0" "523" "0" "c.523T>C" "" "p.(Trp175Arg)" "r.(?)" "likely pathogenic" "0000000242" "00000001" "09" "1088" "0" "1089" "0" "c.1088_1089dup" "" "p.(Thr364Alafs*77)" "r.(?)" "pathogenic" "0000000245" "00000001" "00" "1175" "0" "1175" "0" "c.1175T>C" "" "p.(Leu392Pro)" "r.(?)" "VUS" "0000000252" "00000001" "00" "469" "0" "469" "0" "c.469T>C" "" "p.(Ser157Pro)" "r.(?)" "VUS" "0000000253" "00000001" "00" "1469" "0" "1469" "0" "c.1469T>C" "" "p.(Leu490Pro)" "r.(?)" "pathogenic" "0000000256" "00000001" "00" "250" "0" "250" "0" "c.250G>C" "" "p.(Gly84Arg)" "r.(?)" "pathogenic" "0000000259" "00000001" "00" "523" "0" "523" "0" "c.523T>C" "" "p.(Trp175Arg)" "r.(?)" "likely pathogenic" "0000000262" "00000001" "00" "1522" "0" "1522" "0" "c.1522G>A" "" "p.(Glu508Lys)" "r.(?)" "likely pathogenic" "0000000272" "00000001" "00" "1598" "0" "1598" "0" "c.1598C>G" "" "p.(Pro533Arg)" "r.(?)" "pathogenic" "0000000273" "00000001" "09" "1" "0" "1189" "0" "c.1_1189del" "" "p.?" "r.?" "pathogenic" "0000000276" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000278" "00000001" "99" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000279" "00000001" "00" "469" "0" "469" "0" "c.469T>C" "" "p.(Ser157Pro)" "r.(?)" "VUS" "0000000282" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000300" "00000001" "99" "1598" "0" "1598" "0" "c.1598C>G" "" "p.(Pro533Arg)" "r.(?)" "pathogenic" "0000000301" "00000001" "99" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000303" "00000001" "00" "469" "0" "469" "0" "c.469T>C" "" "p.(Ser157Pro)" "r.(?)" "VUS" "0000000304" "00000001" "00" "523" "0" "543" "0" "c.523_543del" "" "p.(Trp175_Asn181del)" "r.(?)" "likely pathogenic" "0000000311" "00000001" "00" "266" "0" "266" "0" "c.266G>A" "" "p.(Arg89Gln)" "r.(?)" "likely pathogenic" "0000000318" "00000001" "00" "1709" "0" "1709" "0" "c.1709A>T" "" "p.(Asp570Val)" "r.(?)" "VUS" "0000000321" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000322" "00000001" "00" "152" "0" "152" "0" "c.152G>A" "" "p.(Gly51Asp)" "r.(?)" "pathogenic" "0000000325" "00000001" "00" "469" "0" "469" "0" "c.469T>C" "" "p.(Ser157Pro)" "r.(?)" "VUS" "0000000329" "00000001" "00" "1893" "0" "1893" "0" "c.1893del" "" "p.(Phe632Serfs*?)" "r.(?)" "pathogenic" "0000000334" "00000001" "00" "615" "0" "615" "0" "c.615C>G" "" "p.(Cys205Trp)" "r.(?)" "VUS" "0000000335" "00000001" "00" "385" "1" "385" "1" "c.385+1G>A" "" "p.?" "r.spl?" "pathogenic" "0000000339" "00000001" "00" "1650" "5" "1650" "5" "c.1650+5G>A" "" "p.?" "r.spl?" "pathogenic" "0000000345" "00000001" "00" "1898" "0" "1898" "0" "c.1898C>A" "" "p.(Ser633*)" "r.(?)" "pathogenic" "0000000346" "00000001" "99" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000353" "00000001" "00" "1650" "5" "1650" "5" "c.1650+5G>A" "" "p.?" "r.spl?" "VUS" "0000000355" "00000001" "00" "1222" "0" "1222" "0" "c.1222dup" "" "p.(Ala408Glyfs*101)" "r.(?)" "pathogenic" "0000000366" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000370" "00000001" "09" "46" "0" "57" "0" "c.46_57del" "" "p.(Ser16_Ala19del)" "r.(?)" "pathogenic" "0000000371" "00000001" "00" "58" "0" "58" "0" "c.58G>T" "" "p.(Ala20Ser)" "r.(?)" "VUS" "0000000375" "00000001" "00" "544" "0" "544" "0" "c.544G>C" "" "p.(Glu182Gln)" "r.(?)" "likely pathogenic" "0000000376" "00000001" "00" "12" "0" "19" "0" "c.12_19del" "" "p.(Pro6Argfs*54)" "r.(?)" "likely pathogenic" "0000000383" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000388" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000389" "00000001" "00" "1727" "6" "1727" "6" "c.1727+6T>A" "" "p.(=)" "r.(=)" "VUS" "0000000390" "00000001" "00" "494" "-1" "494" "-1" "c.494-1G>A" "" "p.?" "r.spl?" "pathogenic" "0000000391" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000396" "00000001" "00" "607" "0" "607" "0" "c.607G>A" "" "p.(Asp203Asn)" "r.(?)" "VUS" "0000000409" "00000001" "00" "1487" "0" "1487" "0" "c.1487C>T" "" "p.(Pro496Leu)" "r.(?)" "likely pathogenic" "0000000410" "00000001" "00" "1190" "-1" "1190" "-1" "c.1190-1delG" "" "p.?" "r.spl?" "pathogenic" "0000000414" "00000001" "00" "1829" "0" "1835" "0" "c.1829_1835del" "" "p.(Asp610Valfs*?)" "r.(?)" "pathogenic" "0000000417" "00000001" "00" "1598" "0" "1598" "0" "c.1598C>G" "" "p.(Pro533Arg)" "r.(?)" "pathogenic" "0000000422" "00000001" "00" "1861" "0" "1861" "0" "c.1861C>T" "" "p.(Arg621*)" "r.(?)" "pathogenic" "0000000424" "00000001" "00" "266" "0" "266" "0" "c.266G>A" "" "p.(Arg89Gln)" "r.(?)" "likely pathogenic" "0000000425" "00000001" "00" "1045" "0" "1047" "0" "c.1045_1047del" "" "p.(Asp349del)" "r.(?)" "likely pathogenic" "0000000427" "00000001" "00" "50" "0" "61" "0" "c.50_61del" "" "p.(Leu17_Ala20del)" "r.(?)" "likely pathogenic" "0000000428" "00000001" "99" "1888" "0" "1888" "0" "c.1888G>C" "" "p.(Gly630Arg)" "r.(?)" "pathogenic" "0000000431" "00000001" "00" "1049" "0" "1049" "0" "c.1049A>G" "" "p.(Asn350Ser)" "r.(?)" "likely pathogenic" "0000000439" "00000001" "00" "886" "0" "894" "0" "c.886_894dup" "" "p.(Tyr296_Asp298dup)" "r.(?)" "VUS" "0000000440" "00000001" "00" "1598" "0" "1598" "0" "c.1598C>G" "" "p.(Pro533Arg)" "r.(?)" "pathogenic" "0000000443" "00000001" "00" "1205" "0" "1205" "0" "c.1205G>A" "" "p.(Trp402*)" "r.(?)" "pathogenic" "0000000446" "00000001" "00" "1104" "0" "1105" "0" "c.1104_1105delCT" "" "p.(Phe369Profs*29)" "r.(?)" "pathogenic" "0000000447" "00000001" "00" "656" "0" "656" "0" "c.656G>A" "" "p.(Gly219Glu)" "r.(?)" "likely pathogenic" "0000000448" "00000001" "00" "1084" "0" "1084" "0" "c.1084C>T" "" "p.(Gln362*)" "r.(?)" "pathogenic" "0000000452" "00000001" "00" "1563" "0" "1563" "0" "c.1563dup" "" "p.(Gly522Argfs*50)" "r.(?)" "likely pathogenic" "0000000457" "00000001" "00" "1045" "0" "1047" "0" "c.1045_1047del" "" "p.(Asp349del)" "r.(?)" "likely pathogenic" "0000000470" "00000001" "00" "1" "0" "1" "0" "c.1A>C" "" "p.Met1Leu" "r.?" "pathogenic" "0000000471" "00000001" "00" "1562" "0" "1563" "0" "c.1562_1563insC" "" "p.(Gly522Argfs*50)" "r.(?)" "likely pathogenic" "0000000497" "00000001" "00" "806" "0" "806" "0" "c.806C>G" "" "p.(Ser269Cys)" "r.(?)" "VUS" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000000002" "0000000004" "0000000020" "0000000224" "0000000028" "0000000235" "0000000033" "0000000240" "0000000036" "0000000242" "0000000039" "0000000245" "0000000045" "0000000252" "0000000046" "0000000253" "0000000048" "0000000256" "0000000051" "0000000259" "0000000054" "0000000262" "0000000062" "0000000272" "0000000063" "0000000273" "0000000066" "0000000276" "0000000068" "0000000278" "0000000068" "0000000279" "0000000071" "0000000282" "0000000089" "0000000300" "0000000090" "0000000301" "0000000092" "0000000303" "0000000092" "0000000304" "0000000099" "0000000311" "0000000104" "0000000318" "0000000107" "0000000321" "0000000107" "0000000322" "0000000110" "0000000325" "0000000114" "0000000329" "0000000118" "0000000334" "0000000119" "0000000335" "0000000123" "0000000339" "0000000130" "0000000345" "0000000131" "0000000346" "0000000138" "0000000353" "0000000140" "0000000355" "0000000150" "0000000366" "0000000155" "0000000370" "0000000155" "0000000371" "0000000159" "0000000375" "0000000160" "0000000376" "0000000167" "0000000383" "0000000172" "0000000388" "0000000173" "0000000389" "0000000174" "0000000390" "0000000175" "0000000391" "0000000179" "0000000396" "0000000190" "0000000409" "0000000191" "0000000410" "0000000195" "0000000414" "0000000198" "0000000417" "0000000202" "0000000422" "0000000204" "0000000424" "0000000204" "0000000425" "0000000206" "0000000427" "0000000207" "0000000428" "0000000210" "0000000431" "0000000218" "0000000439" "0000000219" "0000000440" "0000000222" "0000000443" "0000000225" "0000000446" "0000000225" "0000000447" "0000000226" "0000000448" "0000000230" "0000000452" "0000000235" "0000000457" "0000000246" "0000000470" "0000000247" "0000000471" "0000000273" "0000000497"