### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATP7B) # 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}}" "ATP7B" "ATPase, Cu++ transporting, beta polypeptide" "13" "q14.3" "unknown" "NG_008806.1" "UD_128205426943" "" "http://www.LOVD.nl/ATP7B" "" "1" "870" "540" "606882" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project." "" "g" "http://databases.lovd.nl/shared/refseq/ATP7B_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2016-06-12 12:43:45" "00000" "2025-09-08 16:00:03" ## 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}}" "00024144" "ATP7B" "transcript variant 1" "006" "NM_000053.3" "" "NP_000044.2" "" "" "" "-157" "6485" "4398" "52585630" "52506805" "00006" "2016-06-12 12:42:33" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 14 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00114" "GA1" "glutaricaciduria, type 1 (GA-1)" "AR" "231670" "" "autosomal recessive" "" "00008" "2013-03-06 12:48:45" "00006" "2021-12-10 21:51:32" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01617" "ABL" "abetalipoproteinaemia (ABL)" "AR" "200100" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01685" "BVVLS1" "Brown-Vialetto-Van Laere syndrome, type 1 (BVVLS1)" "AR" "211530" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02129" "WND" "Wilson disease" "AR" "277900" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02262" "RS1" "retinoschisis, type 1, X-linked" "XLR" "312700" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2024-12-19 09:25:40" "04201" "SCAR" "ataxia, spinocerebellar, autosomal recessive" "AR" "" "" "" "" "00006" "2015-02-20 09:53:55" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05427" "ADPKD" "kidney, polycystic, disease, autosomal dominant (ADPKD)" "" "" "" "" "" "00006" "2018-05-08 22:37:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATP7B" "02129" ## Individuals ## Do not remove or alter this header ## ## Count = 331 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000005" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000006" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000007" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000008" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000009" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000011" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "M" "" "" "" "0" "" "" "" "NA04364" "00000012" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000013" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000014" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000015" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000016" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000017" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000018" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000020" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000023" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000024" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000025" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000026" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000027" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000028" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000030" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000031" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000033" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000034" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000035" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000036" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000037" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000038" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000039" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000041" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000042" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000043" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000044" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000045" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000046" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000047" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000048" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000049" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000050" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000051" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000053" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "JPT/HAN‐HapMap sample" "F" "" "" "" "0" "" "" "" "" "00000054" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000055" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000056" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000057" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000058" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000059" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000060" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000061" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000062" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000063" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000064" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000065" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000066" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000067" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000068" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000069" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000070" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000071" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000072" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000073" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000074" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000075" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000076" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000077" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000078" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000080" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000081" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000082" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000083" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000085" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000086" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000087" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000088" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000089" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000093" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000094" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "Coriell sample" "" "" "" "" "0" "" "" "" "" "00000095" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000096" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000098" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000099" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000100" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000101" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00019897" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00073146" "" "" "" "1" "" "01400" "ATX23" "" "F" "" "France" "" "0" "" "" "" "" "00207500" "" "" "" "2" "" "02551" "{PMID:Stalke 2019:30723317}" "family, 2 affected (sister/brother)" "F" "yes" "Germany" ">10y" "0" "" "" "" "Pat11" "00207521" "" "" "00207500" "1" "" "02551" "{PMID:Stalke 2019:30723317}" "brother" "M" "yes" "Germany" "" "0" "" "" "" "brother" "00208510" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208511" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208512" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208513" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208514" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208515" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208516" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208517" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208518" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208519" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208520" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208521" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208522" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00208523" "" "" "" "1" "" "03126" "" "" "" "" "" "" "0" "" "" "" "" "00274063" "" "" "" "1" "" "00006" "{PMID:Wei 2011:22216297}" "" "" "" "China" "" "0" "" "" "" "P4" "00290942" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290943" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290944" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290945" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290946" "" "" "" "68" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290947" "" "" "" "47" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290948" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290949" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290950" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290951" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290952" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295263" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304411" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307443" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam16PatLP65" "00307444" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam17PatLP114" "00307445" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam18PatLP163" "00307454" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam28PatLP91" "00307455" "" "" "" "1" "" "00006" "{PMID:Stalke 2018:28776642}" "" "" "" "Germany" "" "0" "" "" "" "Fam29PatLP146" "00308742" "" "" "" "1" "" "00004" "{PMID:Le 2019:31180159}" "analysis 305 unrelated individuals" "" "" "Viet Nam" "" "0" "" "" "" "" "00335456" "" "" "" "1" "" "00000" "{PMID:Biswas 2017:28130426}" "" "" "" "Iraq" "" "0" "" "" "" "RF.S.0711" "00374448" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4266" "00404597" "" "" "" "1" "" "00006" "{PMID:Liu 2020:31746411}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "China" "" "0" "" "" "" "patient" "00414373" "" "" "" "1" "" "00000" "{PMID:Sun 2018:30076350}" "" "M" "" "China" "" "0" "" "" "" "WHP40" "00414704" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01210" "00414705" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA01899" "00414706" "" "" "" "1" "" "00000" "{PMID:Bell 2011:21228398}" "" "?" "" "" "" "0" "" "" "" "NA03575" "00426970" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "Asia" "" "00426971" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00426972" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00427042" "" "" "" "1" "" "00006" "{PMID:Reiner 2022:36459106}" "carrier screening 73,755 controls" "" "" "United States" "" "0" "" "" "" "" "00427853" "" "" "" "1" "" "04243" "" "" "F" "" "" "" "" "" "LTx" "" "Patient 1" "00427854" "" "" "" "1" "" "04243" "" "" "F" "" "" "" "" "" "" "" "Patient 2" "00427855" "" "" "" "1" "" "04243" "" "" "M" "" "" "" "" "" "" "" "Patient 3" "00427856" "" "" "" "2" "" "04243" "" "" "F" "" "" "" "" "" "" "" "Patient 4" "00427857" "" "" "" "1" "" "04243" "" "" "M" "" "" "" "" "" "" "" "Patient 5" "00427858" "" "" "" "1" "" "04243" "" "" "F" "" "" "" "" "" "" "" "Patient 6" "00427859" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat1" "00427860" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat2" "00427861" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat3" "00427862" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat4" "00427863" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat5" "00427864" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat6" "00427865" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat7" "00427866" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" "" "" "" "Germany" "" "0" "" "" "" "Pat8" "00427867" "" "" "" "1" "" "04243" "{PMID:Stalke 2019:30723317}" 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"" "" "" "19" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428620" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428621" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428622" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428623" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428624" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428625" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428626" "" "" "" "5" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428627" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428628" "" "" "" "2" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428629" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428630" "" "" "" "3" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428631" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428632" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428633" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428634" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428635" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428636" "" "" "" "4" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428637" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428638" "" "" "" "5" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428639" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428640" "" "" "" "3" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428641" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428642" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428643" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428644" "" "" "" "20" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428645" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428646" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428647" "" "" "" "14" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428648" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00428649" "" "" "" "1" "" "00006" "{PMID:Mukherjee 2014:24094725}" "" "" "" "India" "" "0" "" "" "" "" "00458860" "" "" "" "1" "" "00006" "{PMID:Georgiou 2022:34822951}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00458861" "" "" "" "1" "" "00006" "{PMID:Georgiou 2022:34822951}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00458862" "" "" "" "1" "" "00006" "{PMID:Georgiou 2022:34822951}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 272 "{{individualid}}" "{{diseaseid}}" "00000011" "00198" "00000012" "00138" "00000012" "05378" "00000013" "00138" "00000013" "05378" "00000014" "00138" "00000014" "05378" "00000015" "00138" "00000015" "05378" "00000016" "00138" "00000016" "05378" "00000017" "00138" "00000017" "05378" "00000018" "00138" "00000018" "05378" "00000022" "05378" "00000023" "05378" "00000024" "05378" "00000025" "05378" "00000030" "00000" "00000038" "04270" "00000039" "05427" "00000044" "00114" "00000054" "01617" "00000094" "00114" "00000101" "04214" "00019897" "00139" "00073146" "04201" "00207500" "01685" "00207521" "01685" "00208510" "02129" "00208511" "02129" "00208512" "02129" "00208513" "02129" "00208514" "02129" "00208515" "02129" "00208516" "02129" "00208517" "02129" "00208518" "02129" "00208519" "02129" "00208520" "02129" "00208521" "02129" "00208522" "02129" "00208523" "02129" "00274063" "02129" "00290942" "00198" "00290943" "00198" "00290944" "00198" "00290945" "00198" "00290946" "00198" "00290947" "00198" "00290948" "00198" "00290949" "00198" "00290950" "00198" "00290951" "00198" "00290952" "00198" "00295263" "00198" "00304411" "00198" "00307443" "02129" "00307444" "02129" "00307445" "02129" "00307454" "02129" "00307455" "02129" "00308742" "00000" "00335456" "04214" "00374448" "00198" "00404597" "02129" "00414373" "00198" "00414704" "04214" "00414705" "04214" "00414706" "04214" "00426970" "00000" "00426971" "00000" "00426972" "00000" "00427042" "00000" "00427853" "02129" "00427854" "02129" "00427855" "02129" "00427856" "02129" "00427857" "02129" "00427858" "02129" "00427859" "02129" "00427860" "02129" "00427861" "02129" "00427862" "02129" "00427863" "02129" "00427864" "02129" "00427865" "02129" "00427866" "02129" "00427867" "02129" "00427868" "02129" "00427869" "02129" "00427870" "02129" "00427871" "02129" "00427872" "02129" "00428476" "02129" "00428477" "02129" "00428478" "02129" "00428479" "02129" "00428480" "02129" "00428481" "02129" "00428482" "02129" "00428483" "02129" "00428484" "02129" "00428485" "02129" "00428486" "02129" "00428487" "02129" "00428488" "02129" "00428489" "02129" "00428490" "02129" "00428491" "02129" "00428492" "02129" "00428493" "02129" "00428494" "02129" "00428495" "02129" "00428496" "02129" "00428497" "02129" "00428498" "02129" "00428499" "02129" "00428500" "02129" "00428501" "02129" "00428502" "02129" "00428503" "02129" "00428504" "02129" "00428505" "02129" "00428506" "02129" "00428507" "02129" "00428508" "02129" "00428509" "02129" "00428510" "02129" "00428511" "02129" "00428512" "02129" "00428513" "02129" "00428514" "02129" "00428515" "02129" "00428516" "02129" "00428517" "02129" "00428518" "02129" "00428519" "02129" "00428520" "02129" "00428521" "02129" "00428522" "02129" "00428523" "02129" "00428524" "02129" "00428525" "02129" "00428526" "02129" "00428527" "02129" "00428528" "02129" "00428529" "02129" "00428530" "02129" "00428531" "02129" "00428532" "02129" "00428533" "02129" "00428534" "02129" "00428535" "02129" "00428536" "02129" "00428537" "02129" "00428538" "02129" "00428539" "02129" "00428540" "02129" "00428541" "02129" "00428542" "02129" "00428543" "02129" "00428544" "02129" "00428545" "02129" "00428546" "02129" "00428547" "02129" "00428548" "02129" "00428549" "02129" "00428550" "02129" "00428551" "02129" "00428552" "02129" "00428553" "02129" "00428554" "02129" "00428555" "02129" "00428556" "02129" "00428557" "02129" "00428558" "02129" "00428559" "02129" "00428560" "02129" "00428561" "02129" "00428562" "02129" "00428563" "02129" "00428564" "02129" "00428565" "02129" "00428566" "02129" "00428567" "02129" "00428568" "02129" "00428569" "02129" "00428570" "02129" "00428571" "02129" "00428572" "02129" "00428573" "02129" "00428574" "02129" "00428575" "02129" "00428576" "02129" "00428577" "02129" "00428578" "02129" "00428579" "02129" "00428580" "02129" "00428581" "02129" "00428582" "02129" "00428583" "02129" "00428584" "02129" "00428585" "02129" "00428586" "02129" "00428587" "02129" "00428588" "02129" "00428589" "02129" "00428590" "02129" "00428591" "02129" "00428592" "02129" "00428593" "02129" "00428594" "02129" "00428595" "02129" "00428596" "02129" "00428597" "02129" "00428598" "02129" "00428599" "02129" "00428600" "02129" "00428601" "02129" "00428602" "02129" "00428603" "02129" "00428604" "02129" "00428605" "02129" "00428606" "02129" "00428607" "02129" "00428608" "02129" "00428609" "02129" "00428610" "02129" "00428611" "02129" "00428612" "02129" "00428613" "02129" "00428614" "02129" "00428615" "02129" "00428616" "02129" "00428617" "02129" "00428618" "02129" "00428619" "02129" "00428620" "02129" "00428621" "02129" "00428622" "02129" "00428623" "02129" "00428624" "02129" "00428625" "02129" "00428626" "02129" "00428627" "02129" "00428628" "02129" "00428629" "02129" "00428630" "02129" "00428631" "02129" "00428632" "02129" "00428633" "02129" "00428634" "02129" "00428635" "02129" "00428636" "02129" "00428637" "02129" "00428638" "02129" "00428639" "02129" "00428640" "02129" "00428641" "02129" "00428642" "02129" "00428643" "02129" "00428644" "02129" "00428645" "02129" "00428646" "02129" "00428647" "02129" "00428648" "02129" "00428649" "02129" "00458860" "02262" "00458861" "02262" "00458862" "02262" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00114, 00138, 00139, 00198, 01617, 01685, 02129, 02262, 04201, 04214, 04270, 05378, 05427 ## Count = 211 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020351" "00139" "00019897" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000053280" "04201" "00073146" "01400" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000154673" "01617" "00000054" "00006" "Familial, autosomal recessive" "" "see paper; …" "" "" "" "" "" "" "" "" "" "" "ABL" "abetalipoproteinaemia" "" "0000155279" "01685" "00207500" "02551" "Familial, autosomal recessive" "10y" "visual impairment (HP:0000505); progressive hearing impairment (HP:0000365); no abnormality of the liver (-HP:0001392); no hepatic Wilson disease symptoms, liver biopsy normal; visits regular school" "" "" "" "05y" "" "" "" "" "" "" "BVVLS" "" "" "0000155299" "01685" "00207521" "02551" "Familial, autosomal recessive" "" "Visual impairment (HP:0000505)\r\nHearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "BVVLS" "" "" "0000180197" "01907" "00000045" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000209037" "02129" "00274063" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Wilson\'s disease" "Wilson\'s disease" "" "0000233157" "02129" "00307443" "00006" "Familial, autosomal recessive" "14y" "characteristic phenotype (Acute on chronic liver failure)" "" "" "" "" "" "" "" "" "" "" "" "Wilson\'s disease" "" "0000233158" "02129" "00307444" "00006" "Familial, autosomal recessive" "17y" "characteristic phenotype (Elevated liver enzymes)" "" "" "" "" "" "" "" "" "" "" "" "Wilson\'s disease" "" "0000233159" "02129" "00307445" "00006" "Familial, autosomal recessive" "16y" "characteristic phenotype (Acute on chronic liver failure)" "" "" "" "" "" "" "" "" "" "" "" "Wilson\'s disease" "" "0000233168" "02129" "00307454" "00006" "Unknown" "16y" "steatosis hepatitis, elevated liver enzymes, normal ceruloplasmin, urinary copper, cMRI" "" "" "" "" "" "" "" "" "" "" "" "Wilson\'s disease" "" "0000233169" "02129" "00307455" "00006" "Unknown" "16y" "psychiatric symptoms, all hepatic parameters (ceruloplasmin, ultrasound, liver enzymes) normal" "" "" "" "" "" "" "" "" "" "" "" "Wilson\'s disease" "" "0000253401" "04214" "00335456" "00000" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "retinal degeneration" "" "0000269658" "00198" "00374448" "00006" "Familial, autosomal recessive" "" "Features suggestive of muscular dystrophy. Brain MRI showed anterior pachygyria and pontine hypoplasia with cerebellar vermian atrophy. Biochemical tests showed elevated CPK and SGPT/SGOT enzymes." "" "" "" "" "" "" "" "" "" "" "" "muscular dystrophy" "" "0000278359" "04214" "00000101" "00000" "Familial, autosomal dominant" "64y" "diffuse retinal, retinal pigment epithelium, and choroidal atrophy without evidence for choroidal neovascularization" "" "" "55y" "" "" "" "" "" "" "" "" "Sorsby fundus dystrophy" "" "0000297174" "02129" "00404597" "00006" "Familial, autosomal recessive" "02y09m" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000306208" "00198" "00414373" "00000" "Familial, autosomal recessive" "18y" "" "" "" "" "" "" "" "" "" "" "" "Wilson Disease" "" "" "0000306499" "04214" "00414704" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "galactosemia" "" "" "0000306500" "04214" "00414705" "00000" "Familial, X-linked" "" "" "" "" "" "" "" "" "" "" "" "" "Lesch-Nyhan syndrome" "" "" "0000306501" "04214" "00414706" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "Tay-Sachs disease" "" "" "0000318804" "02129" "00427859" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318805" "02129" "00427860" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318806" "02129" "00427861" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318807" "02129" "00427862" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318808" "02129" "00427863" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318809" "02129" "00427864" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318810" "02129" "00427865" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318811" "02129" "00427866" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318812" "02129" "00427867" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318813" "02129" "00427868" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318814" "02129" "00427869" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318815" "02129" "00427870" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318816" "02129" "00427871" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000318817" "02129" "00427872" "04243" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319380" "02129" "00428476" "00006" "Familial, autosomal recessive" "03y" "see paper; ..., high fever, elevated liver transaminase levels; elevated copper levels, percutaneous liver biopsy subtle portal inflammation, few necrotic hepatocytes, focal steatosis" "" "" "03y" "" "fever" "" "" "" "" "" "WND" "Wilson disease" "" "0000319381" "02129" "00428477" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "11y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319382" "02129" "00428478" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "6y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319383" "02129" "00428479" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "7y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319384" "02129" "00428480" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "8y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319385" "02129" "00428481" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319386" "02129" "00428482" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319387" "02129" "00428483" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; 6y-intermittent fever, vomiting, severe jaundice with ascites and oedema, liver function elevated bilirubin ; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "6y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319388" "02129" "00428484" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "8y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319389" "02129" "00428485" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; 2y-weakness upper and lower limbs, 9y-slurring of speech ; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319390" "02129" "00428486" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319391" "02129" "00428487" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319392" "02129" "00428488" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "9y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319393" "02129" "00428489" "00006" "Familial, autosomal recessive" "" "" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319394" "02129" "00428490" "00006" "Familial, autosomal recessive" "" "" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319395" "02129" "00428491" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319396" "02129" "00428492" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "10y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319397" "02129" "00428493" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; no Kayser-Fleischer ring cornea" "" "" "13y3m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319398" "02129" "00428494" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "13y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319399" "02129" "00428495" "00006" "Familial, autosomal recessive" "" "see paper; ..., 17y-slowness of movement, unsteadiness, slurring speech; dystonia involving all 4 limbs; 18y-irritability, aggressive; no tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "17y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319400" "02129" "00428496" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "11y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319401" "02129" "00428497" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319402" "02129" "00428498" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "4y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319403" "02129" "00428499" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "7y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319404" "02129" "00428500" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "8y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319405" "02129" "00428501" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319406" "02129" "00428502" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319407" "02129" "00428503" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319408" "02129" "00428504" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "2y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319409" "02129" "00428505" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "6y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319410" "02129" "00428506" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "8y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319411" "02129" "00428507" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "3y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319412" "02129" "00428508" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "8y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319413" "02129" "00428509" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319414" "02129" "00428510" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "8y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319415" "02129" "00428511" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319416" "02129" "00428512" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "12y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319417" "02129" "00428513" "00006" "Familial, autosomal recessive" "" "" "" "" "12y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319418" "02129" "00428514" "00006" "Familial, autosomal recessive" "" "" "" "" "13y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319419" "02129" "00428515" "00006" "Familial, autosomal recessive" "" "" "" "" "14y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319420" "02129" "00428516" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "16y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319421" "02129" "00428517" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "5y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319422" "02129" "00428518" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "6y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319423" "02129" "00428519" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "7y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319424" "02129" "00428520" "00006" "Familial, autosomal recessive" "" "" "" "" "8y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319425" "02129" "00428521" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "11y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319426" "02129" "00428522" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; no Kayser-Fleischer ring cornea" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319427" "02129" "00428523" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "11y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319428" "02129" "00428524" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "14y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319429" "02129" "00428525" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "16y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319430" "02129" "00428526" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "7y7m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319431" "02129" "00428527" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "32y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319432" "02129" "00428528" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "21y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319433" "02129" "00428529" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "7y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319434" "02129" "00428530" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "11y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319435" "02129" "00428531" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "21y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319436" "02129" "00428532" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319437" "02129" "00428533" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; no dystonia; no tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; normal posture/gait ; no Kayser-Fleischer ring cornea" "" "" "12y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319438" "02129" "00428534" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "14y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319439" "02129" "00428535" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "14y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319440" "02129" "00428536" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319441" "02129" "00428537" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "14y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319442" "02129" "00428538" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "15y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319443" "02129" "00428539" "00006" "Familial, autosomal recessive" "" "" "" "" "12y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319444" "02129" "00428540" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; no tremor; no Parkinsonism; normal speech; normal swallowing; normal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "15y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319445" "02129" "00428541" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; no tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "19y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319446" "02129" "00428542" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "19y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319447" "02129" "00428543" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; normal posture/gait ; Kayser-Fleischer ring cornea" "" "" "10y3m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319448" "02129" "00428544" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; no Kayser-Fleischer ring cornea" "" "" "8y6m" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319449" "02129" "00428545" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; no tremor; Parkinsonism; abnormal speech; abnormality swallowing ; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319450" "02129" "00428546" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "16y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319451" "02129" "00428547" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "18y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319452" "02129" "00428548" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; no tremor; no Parkinsonism; abnormal speech; abnormality swallowing ; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "10y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319453" "02129" "00428549" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; no Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "13y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319454" "02129" "00428550" "00006" "Familial, autosomal recessive" "" "" "" "" "18y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319455" "02129" "00428551" "00006" "Familial, autosomal recessive" "" "see paper; ..., normal cognition/behavior; dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; abnormal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "9y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319456" "02129" "00428552" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; no dystonia; tremor; Parkinsonism; abnormal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "23y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319457" "02129" "00428553" "00006" "Familial, autosomal recessive" "" "see paper; ..., abnormality cognition/behavior; dystonia; tremor; Parkinsonism; normal speech; normal swallowing; normal salivation; abnormal posture/gait; Kayser-Fleischer ring cornea" "" "" "29y" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319458" "02129" "00428554" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319459" "02129" "00428555" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319460" "02129" "00428556" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319461" "02129" "00428557" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319462" "02129" "00428558" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319463" "02129" "00428559" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319464" "02129" "00428560" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319465" "02129" "00428561" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319466" "02129" "00428562" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319467" "02129" "00428563" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319468" "02129" "00428564" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319469" "02129" "00428565" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319470" "02129" "00428566" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319471" "02129" "00428567" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319472" "02129" "00428568" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319473" "02129" "00428569" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319474" "02129" "00428570" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319475" "02129" "00428571" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319476" "02129" "00428572" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319477" "02129" "00428573" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319478" "02129" "00428574" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319479" "02129" "00428575" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319480" "02129" "00428576" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319481" "02129" "00428577" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319482" "02129" "00428578" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319483" "02129" "00428579" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319484" "02129" "00428580" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319485" "02129" "00428581" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319486" "02129" "00428582" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319487" "02129" "00428583" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319488" "02129" "00428584" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319489" "02129" "00428585" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319490" "02129" "00428586" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319491" "02129" "00428587" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319492" "02129" "00428588" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319493" "02129" "00428589" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319494" "02129" "00428590" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319495" "02129" "00428591" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319496" "02129" "00428592" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319497" "02129" "00428593" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319498" "02129" "00428594" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319499" "02129" "00428595" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319500" "02129" "00428596" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319501" "02129" "00428597" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319502" "02129" "00428598" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319503" "02129" "00428599" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319504" "02129" "00428600" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319505" "02129" "00428601" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319506" "02129" "00428602" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319507" "02129" "00428603" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319508" "02129" "00428604" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319509" "02129" "00428605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319510" "02129" "00428606" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319511" "02129" "00428607" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319512" "02129" "00428608" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319513" "02129" "00428609" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319514" "02129" "00428610" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319515" "02129" "00428611" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319516" "02129" "00428612" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319517" "02129" "00428613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319518" "02129" "00428614" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319519" "02129" "00428615" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319520" "02129" "00428616" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319521" "02129" "00428617" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319522" "02129" "00428618" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319523" "02129" "00428619" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319524" "02129" "00428620" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319525" "02129" "00428621" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319526" "02129" "00428622" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319527" "02129" "00428623" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319528" "02129" "00428624" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319529" "02129" "00428625" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319530" "02129" "00428626" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319531" "02129" "00428627" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319532" "02129" "00428628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319533" "02129" "00428629" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319534" "02129" "00428630" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319535" "02129" "00428631" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319536" "02129" "00428632" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319537" "02129" "00428633" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319538" "02129" "00428634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319539" "02129" "00428635" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319540" "02129" "00428636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319541" "02129" "00428637" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319542" "02129" "00428638" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319543" "02129" "00428639" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319544" "02129" "00428640" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319545" "02129" "00428641" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319546" "02129" "00428642" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319547" "02129" "00428643" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319548" "02129" "00428644" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319549" "02129" "00428645" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319550" "02129" "00428646" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319551" "02129" "00428647" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319552" "02129" "00428648" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000319553" "02129" "00428649" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "WND" "Wilson disease" "" "0000347290" "02262" "00458860" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" "0000347291" "02262" "00458861" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" "0000347292" "02262" "00458862" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "RS1" "retinoschisis" "" ## Screenings ## Do not remove or alter this header ## ## Count = 332 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000005" "00000005" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000006" "00000006" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000007" "00000007" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000008" "00000008" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000009" "00000009" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 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"2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000023" "00000023" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000024" "00000024" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000025" "00000025" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000026" "00000026" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000027" "00000027" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000028" "00000028" "1" "00004" "" "2012-05-11 13:18:42" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000030" "00000030" "1" "00004" "" "2012-05-11 13:18:43" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000031" "00000031" "1" "00004" "" "2012-05-11 13:18:43" 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"ATP7B" "0000430035" "ATP7B" "0000430036" "ATP7B" "0000430037" "ATP7B" "0000430038" "ATP7B" "0000430039" "ATP7B" "0000430040" "ATP7B" "0000430041" "ATP7B" "0000430042" "ATP7B" "0000430043" "ATP7B" "0000430044" "ATP7B" "0000430045" "ATP7B" "0000430046" "ATP7B" "0000430047" "ATP7B" "0000430048" "ATP7B" "0000430049" "ATP7B" "0000430050" "ATP7B" "0000430051" "ATP7B" "0000430052" "ATP7B" "0000430053" "ATP7B" "0000430054" "ATP7B" "0000430055" "ATP7B" "0000430056" "ATP7B" "0000430057" "ATP7B" "0000430058" "ATP7B" "0000430059" "ATP7B" "0000430060" "ATP7B" "0000430061" "ATP7B" "0000460481" "RS1" "0000460482" "RS1" "0000460483" "RS1" ## 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 = 767 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000000298" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000299" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000300" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000301" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000302" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000303" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000304" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000306" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000307" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000308" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000309" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000311" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000312" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000313" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000314" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000315" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000316" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000317" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000318" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000319" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000320" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000321" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000322" "3" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" "0000000324" "0" "50" "13" "52515354" "52515354" "subst" "0.56922" "00002" "ATP7B_000001" "g.52515354A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51941218A>G" "" "VUS" "" 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"" "" "Germline" "" "" "" "" "" "g.51939130T>C" "" "VUS" "" "0000000388" "0" "50" "13" "52511799" "52511799" "subst" "4.06138E-6" "00002" "ATP7B_000003" "g.52511799A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51937663A>C" "" "VUS" "" "0000000389" "0" "50" "13" "52508989" "52508989" "subst" "0.0019702" "00002" "ATP7B_000004" "g.52508989G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51934853G>A" "" "VUS" "" "0000000390" "0" "50" "13" "52508989" "52508989" "subst" "0.0019702" "00002" "ATP7B_000004" "g.52508989G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "g.51934853G>A" "" "VUS" "" "0000040364" "0" "30" "13" "52536008" "52536008" "subst" "2.03049E-5" "00705" "ATP7B_000005" "g.52536008G>A" "" "{PMID:Gilissen 2014:24896178}" "" "Asn637Asn" "" "De novo" "" "" "0" "" "" "g.51961872G>A" "" "likely benign" "" "0000116935" "0" "30" "13" "52542667" "52542667" "subst" "0.00143825" "01400" "ATP7B_000006" "g.52542667G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51968531G>A" "" "likely benign" "" "0000116936" "0" "90" "13" "52520508" "52520508" "subst" "0.00121827" "01400" "ATP7B_000007" "g.52520508G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.51946372G>A" "" "pathogenic" "" "0000247188" "0" "10" "13" "52548140" "52548140" "subst" "0.444337" "02330" "ATP7B_000113" "g.52548140A>C" "" "" "" "ATP7B(NM_000053.3):c.1216T>G (p.S406A), ATP7B(NM_000053.4):c.1216T>G (p.S406A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974004A>C" "" "benign" "" "0000247189" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "02330" "ATP7B_000001" "g.52515354A>G" "" "" "" "ATP7B(NM_000053.4):c.3419T>C (p.V1140A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000247190" "0" "10" "13" "52532434" "52532434" "subst" "0.00287083" "02330" "ATP7B_000130" "g.52532434A>C" "" "" "" "ATP7B(NM_000053.4):c.2355+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958298A>C" "" "benign" "" "0000247193" "0" "10" "13" "52542571" "52542571" "subst" "0.00312736" "02330" "ATP7B_000105" "g.52542571A>G" "" "" "" "ATP7B(NM_000053.4):c.1707+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968435A>G" "" "benign" "" "0000247829" "0" "10" "13" "52548140" "52548140" "subst" "0.444337" "02325" "ATP7B_000113" "g.52548140A>C" "" "" "" "ATP7B(NM_000053.3):c.1216T>G (p.S406A), ATP7B(NM_000053.4):c.1216T>G (p.S406A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974004A>C" "" "benign" "" "0000248171" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "02325" "ATP7B_000001" "g.52515354A>G" "" "" "" "ATP7B(NM_000053.4):c.3419T>C (p.V1140A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000248172" "0" "30" "13" "52532434" "52532434" "subst" "0.00287083" "02325" "ATP7B_000130" "g.52532434A>C" "" "" "" "ATP7B(NM_000053.4):c.2355+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958298A>C" "" "likely benign" "" "0000249455" "0" "30" "13" "52549258" "52549258" "subst" "0.000637926" "02325" "ATP7B_000124" "g.52549258A>G" "" "" "" "ATP7B(NM_000053.4):c.98T>C (p.M33T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51975122A>G" "" "likely benign" "" "0000249846" "0" "50" "13" "52515372" "52515372" "subst" "4.06124E-6" "02325" "ATP7B_000038" "g.52515372A>T" "" "" "" "ATP7B(NM_000053.4):c.3413-12T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941236A>T" "" "VUS" "" "0000249856" "0" "10" "13" "52548140" "52548140" "subst" "0.444337" "02329" "ATP7B_000113" "g.52548140A>C" "" "" "" "ATP7B(NM_000053.3):c.1216T>G (p.S406A), ATP7B(NM_000053.4):c.1216T>G (p.S406A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974004A>C" "" "benign" "" "0000249997" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "02329" "ATP7B_000001" "g.52515354A>G" "" "" "" "ATP7B(NM_000053.4):c.3419T>C (p.V1140A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000250013" "0" "10" "13" "52532434" "52532434" "subst" "0.00287083" "02329" "ATP7B_000130" "g.52532434A>C" "" "" "" "ATP7B(NM_000053.4):c.2355+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958298A>C" "" "benign" "" "0000250261" "0" "30" "13" "52542571" "52542571" "subst" "0.00312736" "02329" "ATP7B_000105" "g.52542571A>G" "" "" "" "ATP7B(NM_000053.4):c.1707+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968435A>G" "" "likely benign" "" "0000250380" "0" "30" "13" "52549078" "52549078" "subst" "0" "02329" "ATP7B_000123" "g.52549078A>C" "" "" "" "ATP7B(NM_000053.4):c.278T>G (p.L93R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974942A>C" "" "likely benign" "" "0000250544" "0" "50" "13" "52548874" "52548874" "subst" "7.7205E-5" "02329" "ATP7B_000119" "g.52548874A>G" "" "" "" "ATP7B(NM_000053.4):c.482T>C (p.I161T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974738A>G" "" "VUS" "" "0000250605" "0" "10" "13" "52548140" "52548140" "subst" "0.444337" "02326" "ATP7B_000113" "g.52548140A>C" "" "" "" "ATP7B(NM_000053.3):c.1216T>G (p.S406A), ATP7B(NM_000053.4):c.1216T>G (p.S406A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974004A>C" "" "benign" "" "0000250857" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "02326" "ATP7B_000001" "g.52515354A>G" "" "" "" "ATP7B(NM_000053.4):c.3419T>C (p.V1140A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000250873" "0" "10" "13" "52532434" "52532434" "subst" "0.00287083" "02326" "ATP7B_000130" "g.52532434A>C" "" "" "" "ATP7B(NM_000053.4):c.2355+13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958298A>C" "" "benign" "" "0000252369" "0" "70" "13" "52520533" "52520533" "subst" "0" "02326" "ATP7B_000063" "g.52520533A>G" "" "" "" "ATP7B(NM_000053.4):c.2947T>C (p.C983R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946397A>G" "" "likely pathogenic" "" "0000252396" "0" "70" "13" "52509735" "52509735" "subst" "4.11638E-6" "02326" "ATP7B_000019" "g.52509735A>C" "" "" "" "ATP7B(NM_000053.4):c.4118T>G (p.L1373R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935599A>C" "" "likely pathogenic" "" "0000252405" "0" "70" "13" "52542641" "52542641" "subst" "0" "02326" "ATP7B_000108" "g.52542641A>G" "" "" "" "ATP7B(NM_000053.4):c.1646T>C (p.L549P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968505A>G" "" "likely pathogenic" "" "0000252436" "0" "70" "13" "52532547" "52532547" "subst" "4.06081E-6" "02326" "ATP7B_000093" "g.52532547A>C" "" "" "" "ATP7B(NM_000053.4):c.2255T>G (p.V752G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958411A>C" "" "likely pathogenic" "" "0000252454" "0" "70" "13" "52585881" "52585881" "subst" "0" "02326" "ATP7B_000128" "g.52585881A>G" "" "" "" "ATP7B(NM_000053.4):c.-408T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011745A>G" "" "likely pathogenic" "" "0000252550" "0" "90" "13" "52520514" "52520514" "subst" "0" "02326" "ATP7B_000060" "g.52520514A>C" "" "" "" "ATP7B(NM_000053.4):c.2966T>G (p.L989R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946378A>C" "" "pathogenic" "" "0000252715" "0" "50" "13" "52509750" "52509750" "subst" "8.20223E-6" "02326" "ATP7B_000020" "g.52509750A>G" "" "" "" "ATP7B(NM_000053.4):c.4103T>C (p.L1368P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935614A>G" "" "VUS" "" "0000252813" "0" "50" "13" "52509723" "52509723" "subst" "0" "02326" "ATP7B_000018" "g.52509723A>G" "" "" "" "ATP7B(NM_000053.4):c.4124+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935587A>G" "" "VUS" "" "0000252957" "0" "10" "13" "52548140" "52548140" "subst" "0.444337" "01943" "ATP7B_000113" "g.52548140A>C" "" "" "" "ATP7B(NM_000053.3):c.1216T>G (p.S406A), ATP7B(NM_000053.4):c.1216T>G (p.S406A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974004A>C" "" "benign" "" "0000256608" "0" "50" "13" "52548235" "52548235" "subst" "1.21864E-5" "01943" "ATP7B_000115" "g.52548235A>C" "" "" "" "ATP7B(NM_000053.3):c.1121T>G (p.V374G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974099A>C" "" "VUS" "" "0000258465" "0" "10" "13" "52544805" "52544805" "subst" "0.439466" "02330" "ATP7B_000110" "g.52544805C>G" "" "" "" "ATP7B(NM_000053.3):c.1366G>C (p.V456L), ATP7B(NM_000053.4):c.1366G>C (p.V456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51970669C>G" "" "benign" "" "0000258466" "0" "10" "13" "52532627" "52532627" "subst" "0.00313137" "02330" "ATP7B_000096" "g.52532627C>T" "" "" "" "ATP7B(NM_000053.3):c.2175G>A (p.R725=), ATP7B(NM_000053.4):c.2175G>A (p.R725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958491C>T" "" "benign" "" "0000258467" "0" "10" "13" "52524488" "52524488" "subst" "0.538964" "02330" "ATP7B_000079" "g.52524488T>C" "" "" "" "ATP7B(NM_000053.4):c.2495A>G (p.K832R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950352T>C" "" "benign" "" "0000258468" "0" "10" "13" "52523808" "52523808" "subst" "0.566821" "02330" "ATP7B_000066" "g.52523808C>T" "" "" "" "ATP7B(NM_000053.4):c.2855G>A (p.R952K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51949672C>T" "" "benign" "" "0000258469" "0" "10" "13" "52520627" "52520627" "subst" "0.0692928" "02330" "ATP7B_000065" "g.52520627C>G" "" "" "" "ATP7B(NM_000053.4):c.2866-13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946491C>G" "" "benign" "" "0000258470" "0" "10" "13" "52520507" "52520507" "subst" "0.0537287" "02330" "ATP7B_000059" "g.52520507C>T" "" "" "" "ATP7B(NM_000053.4):c.2973G>A (p.T991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946371C>T" "" "benign" "" "0000258471" "0" "10" "13" "52520471" "52520471" "subst" "0.055281" "02330" "ATP7B_000057" "g.52520471C>T" "" "" "" "ATP7B(NM_000053.4):c.3009G>A (p.A1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946335C>T" "" "benign" "" "0000258472" "0" "10" "13" "52520465" "52520465" "subst" "0.000930706" "02330" "ATP7B_000056" "g.52520465G>A" "" "" "" "ATP7B(NM_000053.4):c.3015C>T (p.N1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946329G>A" "" "benign" "" "0000258473" "0" "10" "13" "52520435" "52520435" "subst" "0.0255444" "02330" "ATP7B_000055" "g.52520435C>T" "" "" "" "ATP7B(NM_000053.4):c.3045G>A (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946299C>T" "" "benign" "" "0000258474" "0" "10" "13" "52518387" "52518387" "subst" "0.000937284" "02330" "ATP7B_000050" "g.52518387T>C" "" "" "" "ATP7B(NM_000053.4):c.3101A>G (p.H1034R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944251T>C" "" "benign" "" "0000258475" "0" "10" "13" "52516568" "52516568" "subst" "0.00264821" "02330" "ATP7B_000042" "g.52516568T>C" "" "" "" "ATP7B(NM_000053.4):c.3366A>G (p.A1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942432T>C" "" "benign" "" "0000258476" "0" "10" "13" "52513266" "52513266" "subst" "0.0294672" "02330" "ATP7B_000002" "g.52513266T>C" "" "" "" "ATP7B(NM_000053.3):c.3620A>G (p.H1207R), ATP7B(NM_000053.4):c.3620A>G (p.H1207R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939130T>C" "" "benign" "" "0000258477" "0" "10" "13" "52511606" "52511606" "subst" "0.537842" "02330" "ATP7B_000026" "g.52511606G>A" "" "" "" "ATP7B(NM_000053.4):c.3903+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937470G>A" "" "benign" "" "0000258478" "0" "10" "13" "52508988" "52508988" "subst" "0.00279897" "02330" "ATP7B_000013" "g.52508988C>T" "" "" "" "ATP7B(NM_000053.4):c.4302G>A (p.T1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934852C>T" "" "benign" "" "0000258808" "0" "10" "13" "52544805" "52544805" "subst" "0.439466" "02325" "ATP7B_000110" "g.52544805C>G" "" "" "" "ATP7B(NM_000053.3):c.1366G>C (p.V456L), ATP7B(NM_000053.4):c.1366G>C (p.V456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51970669C>G" "" "benign" "" "0000258809" "0" "10" "13" "52524488" "52524488" "subst" "0.538964" "02325" "ATP7B_000079" "g.52524488T>C" "" "" "" "ATP7B(NM_000053.4):c.2495A>G (p.K832R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950352T>C" "" "benign" "" "0000258810" "0" "10" "13" "52523808" "52523808" "subst" "0.566821" "02325" "ATP7B_000066" "g.52523808C>T" "" "" "" "ATP7B(NM_000053.4):c.2855G>A (p.R952K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51949672C>T" "" "benign" "" "0000258811" "0" "10" "13" "52513266" "52513266" "subst" "0.0294672" "02325" "ATP7B_000002" "g.52513266T>C" "" "" "" "ATP7B(NM_000053.3):c.3620A>G (p.H1207R), ATP7B(NM_000053.4):c.3620A>G (p.H1207R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939130T>C" "" "benign" "" "0000258812" "0" "10" "13" "52511606" "52511606" "subst" "0.537842" "02325" "ATP7B_000026" "g.52511606G>A" "" "" "" "ATP7B(NM_000053.4):c.3903+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937470G>A" "" "benign" "" "0000259557" "0" "30" "13" "52548078" "52548078" "subst" "0.00106129" "02325" "ATP7B_000112" "g.52548078G>A" "" "" "" "ATP7B(NM_000053.3):c.1278C>T (p.V426=), ATP7B(NM_000053.4):c.1278C>T (p.V426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51973942G>A" "" "likely benign" "" "0000259558" "0" "30" "13" "52585445" "52585445" "subst" "0" "02325" "ATP7B_000126" "g.52585445G>A" "" "" "" "ATP7B(NM_000053.4):c.29C>T (p.A10V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011309G>A" "" "likely benign" "" "0000259559" "0" "30" "13" "52549031" "52549031" "subst" "5.28249E-5" "02325" "ATP7B_000122" "g.52549031G>A" "" "" "" "ATP7B(NM_000053.3):c.325C>T (p.L109=), ATP7B(NM_000053.4):c.325C>T (p.L109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974895G>A" "" "likely benign" "" "0000259560" "0" "30" "13" "52513345" "52513345" "subst" "2.86916E-5" "02325" "ATP7B_000034" "g.52513345C>T" "" "" "" "ATP7B(NM_000053.4):c.3557-16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939209C>T" "" "likely benign" "" "0000259561" "0" "30" "13" "52508979" "52508979" "subst" "0.00707166" "02325" "ATP7B_000012" "g.52508979C>T" "" "" "" "ATP7B(NM_000053.4):c.4311G>A (p.K1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934843C>T" "" "likely benign" "" "0000259562" "0" "30" "13" "52548911" "52548911" "subst" "0.000223645" "02325" "ATP7B_000121" "g.52548911C>T" "" "" "" "ATP7B(NM_000053.4):c.445G>A (p.V149M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974775C>T" "" "likely benign" "" "0000259700" "0" "50" "13" "52548211" "52548211" "subst" "5.28026E-5" "02325" "ATP7B_000114" "g.52548211G>C" "" "" "" "ATP7B(NM_000053.3):c.1145C>G (p.S382C), ATP7B(NM_000053.4):c.1145C>G (p.S382C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974075G>C" "" "VUS" "" "0000259701" "0" "50" "13" "52524439" "52524439" "subst" "0.000584833" "02325" "ATP7B_000076" "g.52524439G>A" "" "" "" "ATP7B(NM_000053.3):c.2544C>T (p.G848=), ATP7B(NM_000053.4):c.2544C>T (p.G848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950303G>A" "" "VUS" "" "0000259702" "0" "50" "13" "52513303" "52513303" "subst" "0.000174912" "02325" "ATP7B_000033" "g.52513303C>T" "" "" "" "ATP7B(NM_000053.4):c.3583G>A (p.A1195T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939167C>T" "" "VUS" "" "0000259703" "0" "50" "13" "52513198" "52513198" "subst" "0.000304573" "02325" "ATP7B_000031" "g.52513198T>C" "" "" "" "ATP7B(NM_000053.4):c.3688A>G (p.I1230V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939062T>C" "" "VUS" "" "0000259704" "0" "50" "13" "52548845" "52548845" "subst" "0" "02325" "ATP7B_000118" "g.52548845C>A" "" "" "" "ATP7B(NM_000053.4):c.511G>T (p.V171L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974709C>A" "" "VUS" "" "0000259785" "0" "90" "13" "52532503" "52532503" "dup" "0" "02325" "ATP7B_000090" "g.52532503dup" "" "" "" "ATP7B(NM_000053.4):c.2298delGinsGC (p.M769Hfs*26), ATP7B(NM_000053.4):c.2304dupC (p.M769Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958367dup" "" "pathogenic" "" "0000259786" "0" "90" "13" "52518281" "52518281" "subst" "0.000914337" "02325" "ATP7B_000047" "g.52518281G>T" "" "" "" "ATP7B(NM_000053.3):c.3207C>A (p.H1069Q), ATP7B(NM_000053.4):c.3207C>A (p.H1069Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic" "" "0000260255" "0" "10" "13" "52544805" "52544805" "subst" "0.439466" "02329" "ATP7B_000110" "g.52544805C>G" "" "" "" "ATP7B(NM_000053.3):c.1366G>C (p.V456L), ATP7B(NM_000053.4):c.1366G>C (p.V456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51970669C>G" "" "benign" "" "0000260256" "0" "30" "13" "52544615" "52544615" "subst" "0.000845802" "02329" "ATP7B_000109" "g.52544615G>A" "" "" "" "ATP7B(NM_000053.4):c.1543+13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51970479G>A" "" "likely benign" "" "0000260257" "0" "30" "13" "52542667" "52542667" "subst" "0.00143825" "02329" "ATP7B_000006" "g.52542667G>A" "" "" "" "ATP7B(NM_000053.3):c.1620C>T (p.L540=), ATP7B(NM_000053.4):c.1620C>T (p.L540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968531G>A" "" "likely benign" "" "0000260258" "0" "50" "13" "52539150" "52539150" "subst" "1.62462E-5" "02329" "ATP7B_000101" "g.52539150G>A" "" "" "" "ATP7B(NM_000053.4):c.1727C>T (p.A576V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51965014G>A" "" "VUS" "" "0000260259" "0" "10" "13" "52532627" "52532627" "subst" "0.00313137" "02329" "ATP7B_000096" "g.52532627C>T" "" "" "" "ATP7B(NM_000053.3):c.2175G>A (p.R725=), ATP7B(NM_000053.4):c.2175G>A (p.R725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958491C>T" "" "benign" "" "0000260261" "0" "10" "13" "52524488" "52524488" "subst" "0.538964" "02329" "ATP7B_000079" "g.52524488T>C" "" "" "" "ATP7B(NM_000053.4):c.2495A>G (p.K832R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950352T>C" "" "benign" "" "0000260262" "0" "10" "13" "52523808" "52523808" "subst" "0.566821" "02329" "ATP7B_000066" "g.52523808C>T" "" "" "" "ATP7B(NM_000053.4):c.2855G>A (p.R952K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51949672C>T" "" "benign" "" "0000260263" "0" "10" "13" "52520627" "52520627" "subst" "0.0692928" "02329" "ATP7B_000065" "g.52520627C>G" "" "" "" "ATP7B(NM_000053.4):c.2866-13G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946491C>G" "" "benign" "" "0000260264" "0" "30" "13" "52520523" "52520523" "subst" "4.06554E-6" "02329" "ATP7B_000061" "g.52520523G>A" "" "" "" "ATP7B(NM_000053.4):c.2957C>T (p.S986F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946387G>A" "" "likely benign" "" "0000260265" "0" "10" "13" "52520507" "52520507" "subst" "0.0537287" "02329" "ATP7B_000059" "g.52520507C>T" "" "" "" "ATP7B(NM_000053.4):c.2973G>A (p.T991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946371C>T" "" "benign" "" "0000260266" "0" "10" "13" "52520471" "52520471" "subst" "0.055281" "02329" "ATP7B_000057" "g.52520471C>T" "" "" "" "ATP7B(NM_000053.4):c.3009G>A (p.A1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946335C>T" "" "benign" "" "0000260267" "0" "10" "13" "52520435" "52520435" "subst" "0.0255444" "02329" "ATP7B_000055" "g.52520435C>T" "" "" "" "ATP7B(NM_000053.4):c.3045G>A (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946299C>T" "" "benign" "" "0000260268" "0" "30" "13" "52516610" "52516610" "subst" "0.000345197" "02329" "ATP7B_000044" "g.52516610G>A" "" "" "" "ATP7B(NM_000053.3):c.3324C>T (p.N1108=), ATP7B(NM_000053.4):c.3324C>T (p.N1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942474G>A" "" "likely benign" "" "0000260269" "0" "30" "13" "52516602" "52516602" "subst" "0.000178682" "02329" "ATP7B_000043" "g.52516602C>T" "" "" "" "ATP7B(NM_000053.4):c.3332G>A (p.G1111D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942466C>T" "" "likely benign" "" "0000260270" "0" "30" "13" "52516568" "52516568" "subst" "0.00264821" "02329" "ATP7B_000042" "g.52516568T>C" "" "" "" "ATP7B(NM_000053.4):c.3366A>G (p.A1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942432T>C" "" "likely benign" "" "0000260271" "0" "30" "13" "52516566" "52516566" "subst" "0.000203075" "02329" "ATP7B_000041" "g.52516566G>A" "" "" "" "ATP7B(NM_000053.3):c.3368C>T (p.P1123L), ATP7B(NM_000053.4):c.3368C>T (p.P1123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942430G>A" "" "likely benign" "" "0000260272" "0" "30" "13" "52516532" "52516532" "subst" "6.90804E-5" "02329" "ATP7B_000039" "g.52516532G>A" "" "" "" "ATP7B(NM_000053.4):c.3402C>T (p.P1134=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942396G>A" "" "likely benign" "" "0000260273" "0" "10" "13" "52513266" "52513266" "subst" "0.0294672" "02329" "ATP7B_000002" "g.52513266T>C" "" "" "" "ATP7B(NM_000053.3):c.3620A>G (p.H1207R), ATP7B(NM_000053.4):c.3620A>G (p.H1207R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939130T>C" "" "benign" "" "0000260275" "0" "10" "13" "52511606" "52511606" "subst" "0.537842" "02329" "ATP7B_000026" "g.52511606G>A" "" "" "" "ATP7B(NM_000053.4):c.3903+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937470G>A" "" "benign" "" "0000260276" "0" "30" "13" "52508988" "52508988" "subst" "0.00279897" "02329" "ATP7B_000013" "g.52508988C>T" "" "" "" "ATP7B(NM_000053.4):c.4302G>A (p.T1434=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934852C>T" "" "likely benign" "" "0000260277" "0" "10" "13" "52508979" "52508979" "subst" "0.00707166" "02329" "ATP7B_000012" "g.52508979C>T" "" "" "" "ATP7B(NM_000053.4):c.4311G>A (p.K1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934843C>T" "" "benign" "" "0000261218" "0" "10" "13" "52585548" "52585548" "subst" "0" "02326" "ATP7B_000127" "g.52585548G>T" "" "" "" "ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011412G>T" "" "benign" "" "0000261219" "0" "30" "13" "52508876" "52508876" "subst" "0.001089" "02326" "ATP7B_000008" "g.52508876C>T" "" "" "" "ATP7B(NM_000053.4):c.*16G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934740C>T" "" "likely benign" "" "0000261220" "0" "90" "13" "52548066" "52548066" "subst" "5.69782E-5" "02326" "ATP7B_000111" "g.52548066C>A" "" "" "" "ATP7B(NM_000053.3):c.1285+5G>T, ATP7B(NM_000053.4):c.1285+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51973930C>A" "" "pathogenic" "" "0000261221" "0" "30" "13" "52542667" "52542667" "subst" "0.00143825" "02326" "ATP7B_000006" "g.52542667G>A" "" "" "" "ATP7B(NM_000053.3):c.1620C>T (p.L540=), ATP7B(NM_000053.4):c.1620C>T (p.L540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968531G>A" "" "likely benign" "" "0000261222" "0" "50" "13" "52542588" "52542588" "subst" "0" "02326" "ATP7B_000107" "g.52542588C>A" "" "" "" "ATP7B(NM_000053.4):c.1699G>T (p.E567*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968452C>A" "" "VUS" "" "0000261223" "0" "30" "13" "52542478" "52542478" "subst" "0" "02326" "ATP7B_000102" "g.52542478G>A" "" "" "" "ATP7B(NM_000053.4):c.1707+102C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968342G>A" "" "likely benign" "" "0000261224" "0" "50" "13" "52542563" "52542563" "subst" "1.21858E-5" "02326" "ATP7B_000103" "g.52542563G>T" "" "" "" "ATP7B(NM_000053.4):c.1707+17C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968427G>T" "" "VUS" "" "0000261225" "0" "50" "13" "52542563" "52542563" "subst" "7.71768E-5" "02326" "ATP7B_000104" "g.52542563G>A" "" "" "" "ATP7B(NM_000053.4):c.1707+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968427G>A" "" "VUS" "" "0000261226" "0" "90" "13" "52542579" "52542579" "subst" "0" "02326" "ATP7B_000106" "g.52542579C>T" "" "" "" "ATP7B(NM_000053.4):c.1707+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968443C>T" "" "pathogenic" "" "0000261227" "0" "50" "13" "52536051" "52536051" "subst" "0" "02326" "ATP7B_000099" "g.52536051T>C" "" "" "" "ATP7B(NM_000053.4):c.1870-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51961915T>C" "" "VUS" "" "0000261228" "0" "90" "13" "52534283" "52534283" "subst" "0" "02326" "ATP7B_000098" "g.52534283C>A" "" "" "" "ATP7B(NM_000053.4):c.2121+1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51960147C>A" "" "pathogenic" "" "0000261229" "0" "70" "13" "52532657" "52532657" "subst" "0.000109755" "02326" "ATP7B_000097" "g.52532657G>A" "" "" "" "ATP7B(NM_000053.4):c.2145C>T (p.Y715=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958521G>A" "" "likely pathogenic" "" "0000261230" "0" "10" "13" "52532627" "52532627" "subst" "0.00313137" "02326" "ATP7B_000096" "g.52532627C>T" "" "" "" "ATP7B(NM_000053.3):c.2175G>A (p.R725=), ATP7B(NM_000053.4):c.2175G>A (p.R725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958491C>T" "" "benign" "" "0000261231" "0" "50" "13" "52532510" "52532510" "subst" "4.06118E-6" "02326" "ATP7B_000092" "g.52532510G>A" "" "" "" "ATP7B(NM_000053.4):c.2292C>T (p.F764=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958374G>A" "" "VUS" "" "0000261232" "0" "90" "13" "52532505" "52532505" "subst" "3.24905E-5" "02326" "ATP7B_000091" "g.52532505G>A" "" "" "" "ATP7B(NM_000053.4):c.2297C>T (p.T766M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958369G>A" "" "pathogenic" "" "0000261233" "0" "90" "13" "52532497" "52532497" "subst" "6.09216E-5" "02326" "ATP7B_000089" "g.52532497T>C" "" "" "" "ATP7B(NM_000053.4):c.2305A>G (p.M769V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958361T>C" "" "pathogenic" "" "0000261234" "0" "50" "13" "52532492" "52532492" "subst" "0.000138088" "02326" "ATP7B_000087" "g.52532492G>C" "" "" "" "ATP7B(NM_000053.4):c.2310C>G (p.L770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958356G>C" "" "VUS" "" "0000261235" "0" "70" "13" "52532470" "52532470" "subst" "5.28241E-5" "02326" "ATP7B_000086" "g.52532470G>A" "" "" "" "ATP7B(NM_000053.4):c.2332C>T (p.R778W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958334G>A" "" "likely pathogenic" "" "0000261236" "0" "50" "13" "52532469" "52532469" "subst" "0.000142234" "02326" "ATP7B_000085" "g.52532469C>A" "" "" "" "ATP7B(NM_000053.4):c.2333G>T (p.R778L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958333C>A" "" "VUS" "" "0000261237" "0" "90" "13" "52532466" "52532466" "subst" "3.25087E-5" "02326" "ATP7B_000084" "g.52532466C>T" "" "" "" "ATP7B(NM_000053.4):c.2336G>A (p.W779*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958330C>T" "" "pathogenic" "" "0000261238" "0" "90" "13" "52531744" "52531744" "subst" "0" "02326" "ATP7B_000083" "g.52531744C>G" "" "" "" "ATP7B(NM_000053.4):c.2356-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51957608C>G" "" "pathogenic" "" "0000261239" "0" "90" "13" "52531736" "52531736" "subst" "1.2183E-5" "02326" "ATP7B_000082" "g.52531736G>A" "" "" "" "ATP7B(NM_000053.4):c.2363C>T (p.T788I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51957600G>A" "" "pathogenic" "" "0000261240" "0" "50" "13" "52531686" "52531686" "subst" "1.21831E-5" "02326" "ATP7B_000081" "g.52531686C>T" "" "" "" "ATP7B(NM_000053.4):c.2413G>A (p.V805I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51957550C>T" "" "VUS" "" "0000261241" "0" "30" "13" "52524499" "52524499" "subst" "0.000418332" "02326" "ATP7B_000080" "g.52524499G>A" "" "" "" "ATP7B(NM_000053.4):c.2484C>T (p.G828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950363G>A" "" "likely benign" "" "0000261242" "0" "70" "13" "52524476" "52524476" "subst" "4.06114E-6" "02326" "ATP7B_000078" "g.52524476C>T" "" "" "" "ATP7B(NM_000053.4):c.2507G>A (p.G836E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950340C>T" "" "likely pathogenic" "" "0000261243" "0" "50" "13" "52524469" "52524469" "subst" "0" "02326" "ATP7B_000077" "g.52524469C>A" "" "" "" "ATP7B(NM_000053.4):c.2514G>T (p.K838N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950333C>A" "" "VUS" "" "0000261244" "0" "50" "13" "52524439" "52524439" "subst" "0.000584833" "02326" "ATP7B_000076" "g.52524439G>A" "" "" "" "ATP7B(NM_000053.3):c.2544C>T (p.G848=), ATP7B(NM_000053.4):c.2544C>T (p.G848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950303G>A" "" "VUS" "" "0000261246" "0" "90" "13" "52524268" "52524268" "subst" "4.06101E-6" "02326" "ATP7B_000071" "g.52524268C>A" "" "" "" "ATP7B(NM_000053.4):c.2605G>T (p.G869*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950132C>A" "" "pathogenic" "" "0000261247" "0" "90" "13" "52524252" "52524252" "subst" "6.90395E-5" "02326" "ATP7B_000069" "g.52524252G>A" "" "" "" "ATP7B(NM_000053.4):c.2621C>T (p.A874V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950116G>A" "" "pathogenic" "" "0000261248" "0" "90" "13" "52523908" "52523908" "subst" "5.70595E-5" "02326" "ATP7B_000068" "g.52523908G>A" "" "" "" "ATP7B(NM_000053.3):c.2755C>T (p.R919W), ATP7B(NM_000053.4):c.2755C>T (p.R919W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51949772G>A" "" "pathogenic" "" "0000261249" "0" "70" "13" "52523859" "52523859" "subst" "0.000174815" "02326" "ATP7B_000067" "g.52523859G>A" "" "" "" "ATP7B(NM_000053.3):c.2804C>T (p.(Thr935Met)), ATP7B(NM_000053.4):c.2804C>T (p.T935M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51949723G>A" "" "likely pathogenic" "" "0000261250" "0" "70" "13" "52520574" "52520574" "subst" "3.65583E-5" "02326" "ATP7B_000064" "g.52520574C>T" "" "" "" "ATP7B(NM_000053.4):c.2906G>A (p.R969Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946438C>T" "" "likely pathogenic" "" "0000261251" "0" "10" "13" "52520507" "52520507" "subst" "0.0537287" "02326" "ATP7B_000059" "g.52520507C>T" "" "" "" "ATP7B(NM_000053.4):c.2973G>A (p.T991=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946371C>T" "" "benign" "" "0000261252" "0" "70" "13" "52520473" "52520473" "subst" "4.21735E-5" "02326" "ATP7B_000058" "g.52520473C>T" "" "" "" "ATP7B(NM_000053.4):c.3007G>A (p.A1003T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946337C>T" "" "likely pathogenic" "" "0000261253" "0" "10" "13" "52520471" "52520471" "subst" "0.055281" "02326" "ATP7B_000057" "g.52520471C>T" "" "" "" "ATP7B(NM_000053.4):c.3009G>A (p.A1003=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946335C>T" "" "benign" "" "0000261254" "0" "10" "13" "52520435" "52520435" "subst" "0.0255444" "02326" "ATP7B_000055" "g.52520435C>T" "" "" "" "ATP7B(NM_000053.4):c.3045G>A (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946299C>T" "" "benign" "" "0000261255" "0" "90" "13" "52518428" "52518428" "subst" "0" "02326" "ATP7B_000053" "g.52518428C>T" "" "" "" "ATP7B(NM_000053.4):c.3061-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944292C>T" "" "pathogenic" "" "0000261256" "0" "90" "13" "52518429" "52518429" "subst" "0" "02326" "ATP7B_000054" "g.52518429T>C" "" "" "" "ATP7B(NM_000053.4):c.3061-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944293T>C" "" "pathogenic" "" "0000261257" "0" "70" "13" "52518408" "52518408" "subst" "0" "02326" "ATP7B_000052" "g.52518408T>C" "" "" "" "ATP7B(NM_000053.4):c.3080A>G (p.D1027G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944272T>C" "" "likely pathogenic" "" "0000261258" "0" "90" "13" "52518390" "52518390" "subst" "0" "02326" "ATP7B_000051" "g.52518390G>A" "" "" "" "ATP7B(NM_000053.4):c.3098C>T (p.T1033I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944254G>A" "" "pathogenic" "" "0000261259" "0" "90" "13" "52518367" "52518367" "subst" "3.25584E-5" "02326" "ATP7B_000049" "g.52518367G>A" "" "" "" "ATP7B(NM_000053.4):c.3121C>T (p.R1041W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944231G>A" "" "pathogenic" "" "0000261260" "0" "90" "13" "52518298" "52518298" "subst" "8.12797E-6" "02326" "ATP7B_000048" "g.52518298C>T" "" "" "" "ATP7B(NM_000053.4):c.3190G>A (p.E1064K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944162C>T" "" "pathogenic" "" "0000261261" "0" "90" "13" "52518281" "52518281" "subst" "0.000914337" "02326" "ATP7B_000047" "g.52518281G>T" "" "" "" "ATP7B(NM_000053.3):c.3207C>A (p.H1069Q), ATP7B(NM_000053.4):c.3207C>A (p.H1069Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic" "" "0000261262" "0" "50" "13" "52516681" "52516681" "subst" "0" "02326" "ATP7B_000046" "g.52516681T>G" "" "" "" "ATP7B(NM_000053.4):c.3253A>C (p.T1085P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942545T>G" "" "VUS" "" "0000261263" "0" "90" "13" "52516639" "52516639" "subst" "8.12196E-6" "02326" "ATP7B_000045" "g.52516639C>T" "" "" "" "ATP7B(NM_000053.4):c.3295G>A (p.G1099S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942503C>T" "" "pathogenic" "" "0000261264" "0" "70" "13" "52515337" "52515337" "subst" "8.12189E-6" "02326" "ATP7B_000037" "g.52515337C>T" "" "" "" "ATP7B(NM_000053.4):c.3436G>A (p.V1146M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941201C>T" "" "likely pathogenic" "" "0000261265" "0" "70" "13" "52515322" "52515322" "subst" "5.68523E-5" "02326" "ATP7B_000036" "g.52515322G>A" "" "" "" "ATP7B(NM_000053.4):c.3451C>T (p.R1151C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941186G>A" "" "likely pathogenic" "" "0000261266" "0" "50" "13" "52515218" "52515218" "subst" "2.03044E-5" "02326" "ATP7B_000035" "g.52515218G>A" "" "" "" "ATP7B(NM_000053.4):c.3555C>T (p.D1185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51941082G>A" "" "VUS" "" "0000261267" "0" "70" "13" "52513227" "52513227" "subst" "4.06085E-6" "02326" "ATP7B_000032" "g.52513227G>A" "" "" "" "ATP7B(NM_000053.4):c.3659C>T (p.T1220M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939091G>A" "" "likely pathogenic" "" "0000261268" "0" "90" "13" "52513192" "52513192" "subst" "4.06118E-6" "02326" "ATP7B_000030" "g.52513192T>G" "" "" "" "ATP7B(NM_000053.4):c.3694A>C (p.T1232P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939056T>G" "" "pathogenic" "" "0000261269" "0" "90" "13" "52511731" "52511731" "subst" "8.12189E-6" "02326" "ATP7B_000028" "g.52511731C>A" "" "" "" "ATP7B(NM_000053.4):c.3784G>T (p.V1262F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937595C>A" "" "pathogenic" "" "0000261270" "0" "70" "13" "52511719" "52511719" "subst" "2.43657E-5" "02326" "ATP7B_000027" "g.52511719C>T" "" "" "" "ATP7B(NM_000053.4):c.3796G>A (p.G1266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937583C>T" "" "likely pathogenic" "" "0000261272" "0" "70" "13" "52511468" "52511468" "subst" "4.06095E-6" "02326" "ATP7B_000024" "g.52511468C>G" "" "" "" "ATP7B(NM_000053.4):c.3965G>C (p.R1322P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937332C>G" "" "likely pathogenic" "" "0000261273" "0" "70" "13" "52511454" "52511454" "subst" "0" "02326" "ATP7B_000023" "g.52511454G>C" "" "" "" "ATP7B(NM_000053.4):c.3979C>G (p.L1327V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51937318G>C" "" "likely pathogenic" "" "0000261274" "0" "90" "13" "52509765" "52509765" "subst" "0" "02326" "ATP7B_000022" "g.52509765G>T" "" "" "" "ATP7B(NM_000053.4):c.4088C>A (p.S1363Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935629G>T" "" "pathogenic" "" "0000261276" "0" "90" "13" "52509166" "52509166" "subst" "0" "02326" "ATP7B_000015" "g.52509166C>A" "" "" "" "ATP7B(NM_000053.4):c.4125-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935030C>A" "" "pathogenic" "" "0000261277" "0" "90" "13" "52509167" "52509167" "subst" "0" "02326" "ATP7B_000016" "g.52509167T>C" "" "" "" "ATP7B(NM_000053.4):c.4125-2A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935031T>C" "" "pathogenic" "" "0000261278" "0" "10" "13" "52509224" "52509224" "del" "0" "02326" "ATP7B_000017" "g.52509224del" "" "" "" "ATP7B(NM_000053.4):c.4125-49delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935088del" "" "benign" "" "0000261279" "0" "50" "13" "52548897" "52548897" "subst" "8.13035E-6" "02326" "ATP7B_000120" "g.52548897G>A" "" "" "" "ATP7B(NM_000053.4):c.459C>T (p.T153=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974761G>A" "" "VUS" "" "0000261280" "0" "90" "13" "52585419" "52585419" "subst" "1.62492E-5" "02326" "ATP7B_000125" "g.52585419T>A" "" "" "" "ATP7B(NM_000053.4):c.51+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011283T>A" "" "pathogenic" "" "0000261281" "0" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "02326" "ATP7B_000117" "g.52548543G>T" "" "" "" "ATP7B(NM_000053.4):c.813C>A (p.C271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic" "" "0000263360" "0" "10" "13" "52585548" "52585548" "subst" "0" "01943" "ATP7B_000127" "g.52585548G>T" "" "" "" "ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.52011412G>T" "" "benign" "" "0000263361" "0" "50" "13" "52548211" "52548211" "subst" "5.28026E-5" "01943" "ATP7B_000114" "g.52548211G>C" "" "" "" "ATP7B(NM_000053.3):c.1145C>G (p.S382C), ATP7B(NM_000053.4):c.1145C>G (p.S382C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974075G>C" "" "VUS" "" "0000263362" "0" "30" "13" "52548078" "52548078" "subst" "0.00106129" "01943" "ATP7B_000112" "g.52548078G>A" "" "" "" "ATP7B(NM_000053.3):c.1278C>T (p.V426=), ATP7B(NM_000053.4):c.1278C>T (p.V426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51973942G>A" "" "likely benign" "" "0000263363" "0" "10" "13" "52544805" "52544805" "subst" "0.439466" "01943" "ATP7B_000110" "g.52544805C>G" "" "" "" "ATP7B(NM_000053.3):c.1366G>C (p.V456L), ATP7B(NM_000053.4):c.1366G>C (p.V456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51970669C>G" "" "benign" "" "0000263364" "0" "30" "13" "52542667" "52542667" "subst" "0.00143825" "01943" "ATP7B_000006" "g.52542667G>A" "" "" "" "ATP7B(NM_000053.3):c.1620C>T (p.L540=), ATP7B(NM_000053.4):c.1620C>T (p.L540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51968531G>A" "" "likely benign" "" "0000263365" "0" "10" "13" "52539149" "52539149" "subst" "0.0011656" "01943" "ATP7B_000100" "g.52539149C>T" "" "" "" "ATP7B(NM_000053.3):c.1728G>A (p.A576=), ATP7B(NM_000053.4):c.1728G>A (p.A576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51965013C>T" "" "benign" "" "0000263366" "0" "30" "13" "52532627" "52532627" "subst" "0.00313137" "01943" "ATP7B_000096" "g.52532627C>T" "" "" "" "ATP7B(NM_000053.3):c.2175G>A (p.R725=), ATP7B(NM_000053.4):c.2175G>A (p.R725=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958491C>T" "" "likely benign" "" "0000263367" "0" "50" "13" "52532614" "52532614" "subst" "0" "01943" "ATP7B_000095" "g.52532614C>T" "" "" "" "ATP7B(NM_000053.3):c.2188G>A (p.D730N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958478C>T" "" "VUS" "" "0000263368" "0" "50" "13" "52532611" "52532611" "subst" "2.03044E-5" "01943" "ATP7B_000094" "g.52532611C>T" "" "" "" "ATP7B(NM_000053.3):c.2191G>A (p.V731M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51958475C>T" "" "VUS" "" "0000263369" "0" "30" "13" "52524290" "52524290" "subst" "0.000247726" "01943" "ATP7B_000073" "g.52524290G>A" "" "" "" "ATP7B(NM_000053.3):c.2583C>T (p.A861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950154G>A" "" "likely benign" "" "0000263370" "0" "30" "13" "52520525" "52520525" "subst" "0.00049189" "01943" "ATP7B_000062" "g.52520525G>A" "" "" "" "ATP7B(NM_000053.3):c.2955C>T (p.C985=), ATP7B(NM_000053.4):c.2955C>T (p.C985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51946389G>A" "" "likely benign" "" "0000263371" "0" "30" "13" "52549031" "52549031" "subst" "5.28249E-5" "01943" "ATP7B_000122" "g.52549031G>A" "" "" "" "ATP7B(NM_000053.3):c.325C>T (p.L109=), ATP7B(NM_000053.4):c.325C>T (p.L109=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974895G>A" "" "likely benign" "" "0000263372" "0" "90" "13" "52516534" "52516534" "del" "0" "01943" "ATP7B_000040" "g.52516534del" "" "" "" "ATP7B(NM_000053.3):c.3402delC (p.A1135Qfs*13), ATP7B(NM_000053.4):c.3402delC (p.A1135Qfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51942398del" "" "pathogenic" "" "0000263373" "0" "30" "13" "52513266" "52513266" "subst" "0.0294672" "01943" "ATP7B_000002" "g.52513266T>C" "" "" "" "ATP7B(NM_000053.3):c.3620A>G (p.H1207R), ATP7B(NM_000053.4):c.3620A>G (p.H1207R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51939130T>C" "" "likely benign" "" "0000263374" "0" "30" "13" "52508952" "52508952" "subst" "0" "01943" "ATP7B_000010" "g.52508952G>C" "" "" "" "ATP7B(NM_000053.3):c.4338C>G (p.D1446E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934816G>C" "" "likely benign" "" "0000263375" "0" "30" "13" "52508904" "52508904" "subst" "0" "01943" "ATP7B_000009" "g.52508904C>T" "" "" "" "ATP7B(NM_000053.3):c.4386G>A (p.E1462=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934768C>T" "" "likely benign" "" "0000323414" "0" "50" "13" "52508971" "52508971" "subst" "1.21861E-5" "01804" "ATP7B_000011" "g.52508971C>T" "" "" "" "ATP7B(NM_000053.3):c.4319G>A (p.(Arg1440Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934835C>T" "" "VUS" "" "0000323415" "0" "30" "13" "52508989" "52508989" "subst" "0.0019702" "01804" "ATP7B_000004" "g.52508989G>A" "" "" "" "ATP7B(NM_000053.3):c.4301C>T (p.T1434M, p.(Thr1434Met)), ATP7B(NM_000053.4):c.4301C>T (p.T1434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51934853G>A" "" "likely benign" "" "0000323416" "0" "70" "13" "52509155" "52509155" "subst" "0.00107515" "01804" "ATP7B_000014" "g.52509155G>A" "" "" "" "ATP7B(NM_000053.3):c.4135C>T (p.P1379S, p.(Pro1379Ser)), ATP7B(NM_000053.4):c.4135C>T (p.P1379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51935019G>A" "" "likely pathogenic" "" "0000323418" "0" "50" "13" "52524267" "52524267" "subst" "8.12209E-6" "01804" "ATP7B_000070" "g.52524267C>T" "" "" "" "ATP7B(NM_000053.3):c.2606G>A (p.(Gly869Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950131C>T" "" "VUS" "" "0000323419" "0" "50" "13" "52524268" "52524268" "subst" "0.000670067" "01804" "ATP7B_000072" "g.52524268C>T" "" "" "" "ATP7B(NM_000053.3):c.2605G>A (p.(Gly869Arg)), ATP7B(NM_000053.4):c.2605G>A (p.G869R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950132C>T" "" "VUS" "" "0000323420" "0" "50" "13" "52524411" "52524411" "subst" "0" "01804" "ATP7B_000075" "g.52524411T>C" "" "" "" "ATP7B(NM_000053.3):c.2572A>G (p.(Thr858Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51950275T>C" "" "VUS" "" "0000323421" "0" "50" "13" "52548257" "52548257" "subst" "0" "01804" "ATP7B_000116" "g.52548257C>T" "" "" "" "ATP7B(NM_000053.3):c.1099G>A (p.(Gly367Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974121C>T" "" "VUS" "" "0000341879" "0" "50" "13" "52548950" "52548950" "subst" "0.000313008" "02327" "ATP7B_000129" "g.52548950T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51974814T>C" "" "VUS" "" "0000343509" "0" "10" "13" "52523808" "52523808" "subst" "0.566821" "02327" "ATP7B_000066" "g.52523808C>T" "" "" "" "ATP7B(NM_000053.4):c.2855G>A (p.R952K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.51949672C>T" "" "benign" "" "0000438427" "3" "30" "13" "52585455" "52585456" "del" "0" "02551" "ATP7B_000131" "g.52585455_52585456del" "" "{PMID:Stalke 2019:30723317}" "" "19_20delCA" "in vitro studies indicate circumvention of NMD through translation reinitiation" "Germline" "" "" "0" "" "" "g.52011319_52011320del" "" "likely benign" "ACMG" "0000438440" "1" "30" "13" "52585455" "52585456" "del" "0" "02551" "ATP7B_000131" "g.52585455_52585456del" "" "{PMID:Stalke 2019:30723317}" "" "" "in vitro studies indicate circumvention of NMD through translation reinitiation" "Germline" "" "" "0" "" "" "g.52011319_52011320del" "" "likely benign" "ACMG" "0000439709" "0" "70" "13" "52548104" "52548104" "subst" "0" "03126" "ATP7B_000132" "g.52548104C>A" "" "" "" "g.37527G>T" "" "Germline" "" "" "0" "" "" "g.51973968C>A" "" "likely pathogenic" "" "0000439710" "0" "70" "13" "52539103" "52539103" "subst" "0" "03126" "ATP7B_000133" "g.52539103T>A" "" "" "" "g.46528A>T" "" "Germline" "" "" "0" "" "" "g.51964967T>A" "" "likely pathogenic" "" "0000439711" "0" "70" "13" "52536010" "52536010" "del" "0" "03126" "ATP7B_000135" "g.52536010del" "" "" "" "1910delA" "" "Germline" "" "" "0" "" "" "g.51961874del" "" "likely pathogenic" "" "0000439712" "0" "70" "13" "52534401" "52534401" "subst" "0" "03126" "ATP7B_000136" "g.52534401C>G" "" "" "" "g.51230G>C" "" "Germline" "" "" "0" "" "" "g.51960265C>G" "" "likely pathogenic" "" "0000439713" "0" "70" "13" "52534330" "52534330" "subst" "0" "03126" "ATP7B_000137" "g.52534330A>G" "" "" "" "g.51301T>C" "" "Germline" "" "" "0" "" "" "g.51960194A>G" "" "likely pathogenic" "" "0000439714" "0" "70" "13" "52534310" "52534312" "del" "0" "03126" "ATP7B_000138" "g.52534310_52534312del" "" "" "" "2097_2099delCTT" "" "Germline" "" "" "0" "" "" "g.51960174_51960176del" "" "likely pathogenic" "" "0000439715" "0" "70" "13" "52532503" "52532503" "dup" "0" "03126" "ATP7B_000139" "g.52532503dup" "" "" "" "2304dupC" "" "Germline" "" "" "0" "" "" "g.51958367dup" "" "likely pathogenic" "" "0000439716" "0" "70" "13" "52524143" "52524143" "subst" "0" "03126" "ATP7B_000140" "g.52524143C>A" "" "" "" "g.61488G>T" "" "Germline" "" "" "0" "" "" "g.51950007C>A" "" "likely pathogenic" "" "0000439717" "0" "70" "13" "52523879" "52523881" "del" "0" "03126" "ATP7B_000141" "g.52523879_52523881del" "" "" "" "2782_2784delATC" "" "Germline" "" "" "0" "" "" "g.51949743_51949745del" "" "likely pathogenic" "" "0000439718" "0" "70" "13" "52513197" "52513197" "subst" "0" "03126" "ATP7B_000142" "g.52513197A>G" "" "" "" "g.72434T>C" "" "Germline" "" "" "0" "" "" "g.51939061A>G" "" "likely pathogenic" "" "0000439719" "0" "70" "13" "52511811" "52511811" "subst" "0" "03126" "ATP7B_000143" "g.52511811C>T" "" "" "" "g.73820G>A" "" "Germline" "" "" "0" "" "" "g.51937675C>T" "" "likely pathogenic" "" "0000439720" "0" "70" "13" "52511647" "52511648" "del" "0" "03126" "ATP7B_000144" "g.52511647_52511648del" "" "" "" "3869_3870delTG" "" "Germline" "" "" "0" "" "" "g.51937511_51937512del" "" "likely pathogenic" "" "0000439721" "0" "70" "13" "52511428" "52511429" "ins" "0" "03126" "ATP7B_000145" "g.52511428_52511429insGCAACCCATTATAAC" "" "" "" "g.74203_74204insTTATAATGGGTTGCG" "" "Germline" "" "" "0" "" "" "g.51937292_51937293insGCAACCCATTATAAC" "" "likely pathogenic" "" "0000439722" "0" "70" "13" "52509784" "52509784" "subst" "0" "03126" "ATP7B_000134" "g.52509784C>T" "" "" "" "g.75847G>A" "" "Germline" "" "" "0" "" "" "g.51935648C>T" "" "likely pathogenic" "" "0000550914" "0" "10" "13" "52508979" "52508979" "subst" "0.00707166" "02330" "ATP7B_000012" "g.52508979C>T" "" "" "" "ATP7B(NM_000053.4):c.4311G>A (p.K1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51934843C>T" "" "benign" "" "0000550915" "0" "30" "13" "52508989" "52508989" "subst" "0.0019702" "01943" "ATP7B_000004" "g.52508989G>A" "" "" "" "ATP7B(NM_000053.3):c.4301C>T (p.T1434M, p.(Thr1434Met)), ATP7B(NM_000053.4):c.4301C>T (p.T1434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51934853G>A" "" "likely benign" "" "0000550916" "0" "30" "13" "52508989" "52508989" "subst" "0.0019702" "02325" "ATP7B_000004" "g.52508989G>A" "" "" "" "ATP7B(NM_000053.3):c.4301C>T (p.T1434M, p.(Thr1434Met)), ATP7B(NM_000053.4):c.4301C>T (p.T1434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51934853G>A" "" "likely benign" "" "0000550917" "0" "30" "13" "52508989" "52508989" "subst" "0.0019702" "02326" "ATP7B_000004" "g.52508989G>A" "" "" "" "ATP7B(NM_000053.3):c.4301C>T (p.T1434M, p.(Thr1434Met)), ATP7B(NM_000053.4):c.4301C>T (p.T1434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51934853G>A" "" "likely benign" "" "0000550918" "0" "30" "13" "52508989" "52508989" "subst" "0.0019702" "02329" "ATP7B_000004" "g.52508989G>A" "" "" "" "ATP7B(NM_000053.3):c.4301C>T (p.T1434M, p.(Thr1434Met)), ATP7B(NM_000053.4):c.4301C>T (p.T1434M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51934853G>A" "" "likely benign" "" "0000550920" "0" "50" "13" "52509155" "52509155" "subst" "0.00107515" "02327" "ATP7B_000014" "g.52509155G>A" "" "" "" "ATP7B(NM_000053.3):c.4135C>T (p.P1379S, p.(Pro1379Ser)), ATP7B(NM_000053.4):c.4135C>T (p.P1379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51935019G>A" "" "VUS" "" "0000550921" "0" "50" "13" "52509155" "52509155" "subst" "0.00107515" "02325" "ATP7B_000014" "g.52509155G>A" "" "" "" "ATP7B(NM_000053.3):c.4135C>T (p.P1379S, p.(Pro1379Ser)), ATP7B(NM_000053.4):c.4135C>T (p.P1379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51935019G>A" "" "VUS" "" "0000550922" "0" "50" "13" "52509155" "52509155" "subst" "0.00107515" "02326" "ATP7B_000014" "g.52509155G>A" "" "" "" "ATP7B(NM_000053.3):c.4135C>T (p.P1379S, p.(Pro1379Ser)), ATP7B(NM_000053.4):c.4135C>T (p.P1379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51935019G>A" "" "VUS" "" "0000550923" "0" "50" "13" "52509155" "52509155" "subst" "0.00107515" "02329" "ATP7B_000014" "g.52509155G>A" "" "" "" "ATP7B(NM_000053.3):c.4135C>T (p.P1379S, p.(Pro1379Ser)), ATP7B(NM_000053.4):c.4135C>T (p.P1379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51935019G>A" "" "VUS" "" "0000550924" "0" "50" "13" "52509751" "52509752" "ins" "0" "02326" "ATP7B_000148" "g.52509751_52509752insGACT" "" "" "" "ATP7B(NM_000053.4):c.4101_4102insAGTC (p.L1368Sfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51935615_51935616insGACT" "" "VUS" "" "0000550925" "0" "10" "13" "52511606" "52511606" "subst" "0.537842" "02327" "ATP7B_000026" "g.52511606G>A" "" "" "" "ATP7B(NM_000053.4):c.3903+6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51937470G>A" "" "benign" "" "0000550926" "0" "10" "13" "52511624" "52511624" "subst" "0.00254774" "02330" "ATP7B_000149" "g.52511624G>A" "" "" "" "ATP7B(NM_000053.4):c.3891C>T (p.V1297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51937488G>A" "" "benign" "" "0000550927" "0" "90" "13" "52511706" "52511706" "subst" "0.000207107" "02326" "ATP7B_000150" "g.52511706T>C" "" "" "" "ATP7B(NM_000053.4):c.3809A>G (p.N1270S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51937570T>C" "" "pathogenic" "" "0000550928" "0" "90" "13" "52511775" "52511776" "dup" "0" "02329" "ATP7B_000151" "g.52511775_52511776dup" "" "" "" "ATP7B(NM_000053.4):c.3741_3742dupCA (p.K1248Tfs*83)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51937639_51937640dup" "" "pathogenic" "" "0000550929" "0" "50" "13" "52513215" "52513215" "subst" "8.52785E-5" "02329" "ATP7B_000152" "g.52513215C>A" "" "" "" "ATP7B(NM_000053.4):c.3671G>T (p.R1224L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939079C>A" "" "VUS" "" "0000550930" "0" "10" "13" "52513298" "52513298" "subst" "0.000784534" "02330" "ATP7B_000153" "g.52513298G>A" "" "" "" "ATP7B(NM_000053.3):c.3588C>T (p.D1196=), ATP7B(NM_000053.4):c.3588C>T (p.D1196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939162G>A" "" "benign" "" "0000550931" "0" "10" "13" "52513298" "52513298" "subst" "0.000784534" "01943" "ATP7B_000153" "g.52513298G>A" "" "" "" "ATP7B(NM_000053.3):c.3588C>T (p.D1196=), ATP7B(NM_000053.4):c.3588C>T (p.D1196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939162G>A" "" "benign" "" "0000550932" "0" "30" "13" "52513298" "52513298" "subst" "0.000784534" "02329" "ATP7B_000153" "g.52513298G>A" "" "" "" "ATP7B(NM_000053.3):c.3588C>T (p.D1196=), ATP7B(NM_000053.4):c.3588C>T (p.D1196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939162G>A" "" "likely benign" "" "0000550933" "0" "30" "13" "52513335" "52513335" "subst" "0.00256723" "01943" "ATP7B_000154" "g.52513335G>A" "" "" "" "ATP7B(NM_000053.3):c.3557-6C>T, ATP7B(NM_000053.4):c.3557-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939199G>A" "" "likely benign" "" "0000550934" "0" "30" "13" "52513335" "52513335" "subst" "0.00256723" "02325" "ATP7B_000154" "g.52513335G>A" "" "" "" "ATP7B(NM_000053.3):c.3557-6C>T, ATP7B(NM_000053.4):c.3557-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939199G>A" "" "likely benign" "" "0000550935" "0" "30" "13" "52513335" "52513335" "subst" "0.00256723" "02326" "ATP7B_000154" "g.52513335G>A" "" "" "" "ATP7B(NM_000053.3):c.3557-6C>T, ATP7B(NM_000053.4):c.3557-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939199G>A" "" "likely benign" "" "0000550936" "0" "10" "13" "52513335" "52513335" "subst" "0.00256723" "02329" "ATP7B_000154" "g.52513335G>A" "" "" "" "ATP7B(NM_000053.3):c.3557-6C>T, ATP7B(NM_000053.4):c.3557-6C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939199G>A" "" "benign" "" "0000550937" "0" "30" "13" "52513337" "52513337" "subst" "0" "02329" "ATP7B_000155" "g.52513337G>C" "" "" "" "ATP7B(NM_000053.4):c.3557-8C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51939201G>C" "" "likely benign" "" "0000550938" "0" "30" "13" "52515302" "52515302" "subst" "1.62433E-5" "01943" "ATP7B_000156" "g.52515302G>A" "" "" "" "ATP7B(NM_000053.3):c.3471C>T (p.N1157=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51941166G>A" "" "likely benign" "" "0000550939" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "02327" "ATP7B_000001" "g.52515354A>G" "" "" "" "ATP7B(NM_000053.4):c.3419T>C (p.V1140A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51941218A>G" "" "benign" "" "0000550940" "0" "30" "13" "52515357" "52515357" "subst" "7.30988E-5" "01943" "ATP7B_000157" "g.52515357G>C" "" "" "" "ATP7B(NM_000053.3):c.3416C>G (p.A1139G), ATP7B(NM_000053.4):c.3416C>G (p.A1139G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51941221G>C" "" "likely benign" "" "0000550941" "0" "30" "13" "52515357" "52515357" "subst" "7.30988E-5" "02329" "ATP7B_000157" "g.52515357G>C" "" "" "" "ATP7B(NM_000053.3):c.3416C>G (p.A1139G), ATP7B(NM_000053.4):c.3416C>G (p.A1139G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51941221G>C" "" "likely benign" "" "0000550942" "0" "10" "13" "52516531" "52516531" "subst" "0.00629989" "02325" "ATP7B_000158" "g.52516531C>T" "" "" "" "ATP7B(NM_000053.4):c.3403G>A (p.A1135T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51942395C>T" "" "benign" "" "0000550943" "0" "90" "13" "52516534" "52516534" "del" "0" "02329" "ATP7B_000040" "g.52516534del" "" "" "" "ATP7B(NM_000053.3):c.3402delC (p.A1135Qfs*13), ATP7B(NM_000053.4):c.3402delC (p.A1135Qfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51942398del" "" "pathogenic" "" "0000550944" "0" "10" "13" "52516565" "52516565" "subst" "0.000885409" "01943" "ATP7B_000159" "g.52516565C>T" "" "" "" "ATP7B(NM_000053.3):c.3369G>A (p.P1123=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51942429C>T" "" "benign" "" "0000550945" "0" "30" "13" "52518229" "52518229" "subst" "0" "02329" "ATP7B_000160" "g.52518229G>A" "" "" "" "ATP7B(NM_000053.4):c.3243+16C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944093G>A" "" "likely benign" "" "0000550946" "0" "50" "13" "52518252" "52518252" "subst" "0" "02327" "ATP7B_000161" "g.52518252C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944116C>G" "" "VUS" "" "0000550947" "0" "30" "13" "52518272" "52518272" "subst" "1.21921E-5" "01943" "ATP7B_000162" "g.52518272G>A" "" "" "" "ATP7B(NM_000053.3):c.3216C>T (p.G1072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944136G>A" "" "likely benign" "" "0000550948" "0" "50" "13" "52518281" "52518281" "subst" "0.000914337" "01943" "ATP7B_000047" "g.52518281G>T" "" "" "" "ATP7B(NM_000053.3):c.3207C>A (p.H1069Q), ATP7B(NM_000053.4):c.3207C>A (p.H1069Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944145G>T" "" "VUS" "" "0000550949" "0" "90" "13" "52518281" "52518281" "subst" "0.000914337" "02329" "ATP7B_000047" "g.52518281G>T" "" "" "" "ATP7B(NM_000053.3):c.3207C>A (p.H1069Q), ATP7B(NM_000053.4):c.3207C>A (p.H1069Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944145G>T" "" "pathogenic" "" "0000550950" "0" "90" "13" "52518297" "52518297" "subst" "0.000146293" "02326" "ATP7B_000163" "g.52518297T>G" "" "" "" "ATP7B(NM_000053.4):c.3191A>C (p.E1064A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944161T>G" "" "pathogenic" "" "0000550951" "0" "30" "13" "52518365" "52518365" "subst" "0" "02329" "ATP7B_000164" "g.52518365C>G" "" "" "" "ATP7B(NM_000053.4):c.3123G>C (p.R1041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944229C>G" "" "likely benign" "" "0000550952" "0" "30" "13" "52518419" "52518419" "subst" "0.000135398" "02329" "ATP7B_000165" "g.52518419A>G" "" "" "" "ATP7B(NM_000053.3):c.3069T>C (p.T1023=), ATP7B(NM_000053.4):c.3069T>C (p.T1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51944283A>G" "" "likely benign" "" "0000550953" "0" "30" "13" "52520404" "52520404" "subst" "0.00199531" "02329" "ATP7B_000166" "g.52520404C>A" "" "" "" "ATP7B(NM_000053.4):c.3060+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946268C>A" "" "likely benign" "" "0000550954" "0" "70" "13" "52520420" "52520420" "subst" "0" "02325" "ATP7B_000167" "g.52520420C>T" "" "" "" "ATP7B(NM_000053.4):c.3060G>A (p.K1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946284C>T" "" "likely pathogenic" "" "0000550955" "0" "50" "13" "52520420" "52520420" "subst" "0" "02326" "ATP7B_000167" "g.52520420C>T" "" "" "" "ATP7B(NM_000053.4):c.3060G>A (p.K1020=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946284C>T" "" "VUS" "" "0000550957" "0" "10" "13" "52520435" "52520435" "subst" "0.0255444" "02327" "ATP7B_000055" "g.52520435C>T" "" "" "" "ATP7B(NM_000053.4):c.3045G>A (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946299C>T" "" "benign" "" "0000550958" "0" "30" "13" "52520437" "52520437" "subst" "1.87219E-5" "02329" "ATP7B_000168" "g.52520437G>A" "" "" "" "ATP7B(NM_000053.4):c.3043C>T (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946301G>A" "" "likely benign" "" "0000550959" "0" "50" "13" "52520508" "52520508" "subst" "0.00121827" "01943" "ATP7B_000007" "g.52520508G>A" "" "" "" "ATP7B(NM_000053.3):c.2972C>T (p.T991M), ATP7B(NM_000053.4):c.2972C>T (p.T991M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946372G>A" "" "VUS" "" "0000550960" "0" "50" "13" "52520508" "52520508" "subst" "0.00121827" "02325" "ATP7B_000007" "g.52520508G>A" "" "" "" "ATP7B(NM_000053.3):c.2972C>T (p.T991M), ATP7B(NM_000053.4):c.2972C>T (p.T991M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946372G>A" "" "VUS" "" "0000550961" "0" "50" "13" "52520508" "52520508" "subst" "0.00121827" "02326" "ATP7B_000007" "g.52520508G>A" "" "" "" "ATP7B(NM_000053.3):c.2972C>T (p.T991M), ATP7B(NM_000053.4):c.2972C>T (p.T991M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946372G>A" "" "VUS" "" "0000550962" "0" "50" "13" "52520508" "52520508" "subst" "0.00121827" "02329" "ATP7B_000007" "g.52520508G>A" "" "" "" "ATP7B(NM_000053.3):c.2972C>T (p.T991M), ATP7B(NM_000053.4):c.2972C>T (p.T991M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946372G>A" "" "VUS" "" "0000550964" "0" "90" "13" "52523797" "52523797" "subst" "1.62786E-5" "02325" "ATP7B_000170" "g.52523797C>T" "" "" "" "ATP7B(NM_000053.3):c.2865+1G>A, ATP7B(NM_000053.4):c.2865+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51949661C>T" "" "pathogenic" "" "0000550965" "0" "50" "13" "52523797" "52523797" "subst" "1.62786E-5" "02326" "ATP7B_000170" "g.52523797C>T" "" "" "" "ATP7B(NM_000053.3):c.2865+1G>A, ATP7B(NM_000053.4):c.2865+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51949661C>T" "" "VUS" "" "0000550966" "0" "10" "13" "52523858" "52523858" "subst" "9.75522E-5" "02330" "ATP7B_000171" "g.52523858C>T" "" "" "" "ATP7B(NM_000053.4):c.2805G>A (p.T935=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51949722C>T" "" "benign" "" "0000550967" "0" "50" "13" "52523908" "52523908" "subst" "5.70595E-5" "01943" "ATP7B_000068" "g.52523908G>A" "" "" "" "ATP7B(NM_000053.3):c.2755C>T (p.R919W), ATP7B(NM_000053.4):c.2755C>T (p.R919W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51949772G>A" "" "VUS" "" "0000550968" "0" "50" "13" "52524158" "52524158" "subst" "1.21832E-5" "01943" "ATP7B_000172" "g.52524158C>G" "" "" "" "ATP7B(NM_000053.3):c.2715G>C (p.E905D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950022C>G" "" "VUS" "" "0000550969" "0" "50" "13" "52524268" "52524268" "subst" "0.000670067" "02326" "ATP7B_000072" "g.52524268C>T" "" "" "" "ATP7B(NM_000053.3):c.2605G>A (p.(Gly869Arg)), ATP7B(NM_000053.4):c.2605G>A (p.G869R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950132C>T" "" "VUS" "" "0000550970" "0" "50" "13" "52524439" "52524439" "subst" "0.000584833" "01943" "ATP7B_000076" "g.52524439G>A" "" "" "" "ATP7B(NM_000053.3):c.2544C>T (p.G848=), ATP7B(NM_000053.4):c.2544C>T (p.G848=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950303G>A" "" "VUS" "" "0000550971" "0" "10" "13" "52524488" "52524488" "subst" "0.538964" "02327" "ATP7B_000079" "g.52524488T>C" "" "" "" "ATP7B(NM_000053.4):c.2495A>G (p.K832R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950352T>C" "" "benign" "" "0000550972" "0" "10" "13" "52524499" "52524499" "subst" "0.000418332" "02330" "ATP7B_000080" "g.52524499G>A" "" "" "" "ATP7B(NM_000053.4):c.2484C>T (p.G828=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950363G>A" "" "benign" "" "0000550973" "0" "30" "13" "52524520" "52524520" "subst" "1.62475E-5" "02329" "ATP7B_000173" "g.52524520G>A" "" "" "" "ATP7B(NM_000053.4):c.2463C>T (p.P821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950384G>A" "" "likely benign" "" "0000550974" "0" "30" "13" "52531663" "52531663" "subst" "4.06101E-6" "01943" "ATP7B_000174" "g.52531663A>G" "" "" "" "ATP7B(NM_000053.3):c.2436T>C (p.N812=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51957527A>G" "" "likely benign" "" "0000550975" "0" "90" "13" "52532503" "52532503" "dup" "0" "02329" "ATP7B_000090" "g.52532503dup" "" "" "" "ATP7B(NM_000053.4):c.2298delGinsGC (p.M769Hfs*26), ATP7B(NM_000053.4):c.2304dupC (p.M769Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51958367dup" "" "pathogenic" "" "0000550976" "0" "70" "13" "52532679" "52532679" "subst" "0" "02327" "ATP7B_000175" "g.52532679A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51958543A>G" "" "likely pathogenic" "" "0000550978" "0" "30" "13" "52534410" "52534410" "subst" "0.00146412" "01943" "ATP7B_000176" "g.52534410C>T" "" "" "" "ATP7B(NM_000053.3):c.1995G>A (p.M665I), ATP7B(NM_000053.4):c.1995G>A (p.M665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960274C>T" "" "likely benign" "" "0000550979" "0" "50" "13" "52534410" "52534410" "subst" "0.00146412" "02325" "ATP7B_000176" "g.52534410C>T" "" "" "" "ATP7B(NM_000053.3):c.1995G>A (p.M665I), ATP7B(NM_000053.4):c.1995G>A (p.M665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960274C>T" "" "VUS" "" "0000550980" "0" "30" "13" "52534412" "52534412" "subst" "0.000695422" "01943" "ATP7B_000177" "g.52534412T>C" "" "" "" "ATP7B(NM_000053.3):c.1993A>G (p.M665V), ATP7B(NM_000053.4):c.1993A>G (p.M665V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960276T>C" "" "likely benign" "" "0000550981" "0" "50" "13" "52534412" "52534412" "subst" "0.000695422" "02325" "ATP7B_000177" "g.52534412T>C" "" "" "" "ATP7B(NM_000053.3):c.1993A>G (p.M665V), ATP7B(NM_000053.4):c.1993A>G (p.M665V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960276T>C" "" "VUS" "" "0000550982" "0" "30" "13" "52534440" "52534440" "subst" "9.35857E-5" "01943" "ATP7B_000178" "g.52534440C>T" "" "" "" "ATP7B(NM_000053.3):c.1965G>A (p.L655=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51960304C>T" "" "likely benign" "" "0000550985" "0" "30" "13" "52536036" "52536036" "subst" "0.000276169" "01943" "ATP7B_000180" "g.52536036T>C" "" "" "" "ATP7B(NM_000053.3):c.1883A>G (p.H628R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51961900T>C" "" "likely benign" "" "0000550986" "0" "70" "13" "52539030" "52539030" "subst" "4.87333E-5" "02326" "ATP7B_000181" "g.52539030C>T" "" "" "" "ATP7B(NM_000053.4):c.1847G>A (p.R616Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51964894C>T" "" "likely pathogenic" "" "0000550987" "0" "30" "13" "52539149" "52539149" "subst" "0.0011656" "02329" "ATP7B_000100" "g.52539149C>T" "" "" "" "ATP7B(NM_000053.3):c.1728G>A (p.A576=), ATP7B(NM_000053.4):c.1728G>A (p.A576=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51965013C>T" "" "likely benign" "" "0000550989" "0" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "02329" "ATP7B_000182" "g.52539170C>G" "" "" "" "ATP7B(NM_000053.3):c.1708-1G>C, ATP7B(NM_000053.4):c.1708-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51965034C>G" "" "pathogenic" "" "0000550990" "0" "30" "13" "52542680" "52542680" "subst" "0.00325467" "01943" "ATP7B_000183" "g.52542680A>G" "" "" "" "ATP7B(NM_000053.3):c.1607T>C (p.V536A), ATP7B(NM_000053.4):c.1607T>C (p.V536A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51968544A>G" "" "likely benign" "" "0000550991" "0" "30" "13" "52542680" "52542680" "subst" "0.00325467" "02329" "ATP7B_000183" "g.52542680A>G" "" "" "" "ATP7B(NM_000053.3):c.1607T>C (p.V536A), ATP7B(NM_000053.4):c.1607T>C (p.V536A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51968544A>G" "" "likely benign" "" "0000550992" "0" "50" "13" "52542732" "52542732" "subst" "0.000609637" "02325" "ATP7B_000184" "g.52542732C>T" "" "" "" "ATP7B(NM_000053.3):c.1555G>A (p.V519M), ATP7B(NM_000053.4):c.1555G>A (p.(Val519Met), p.V519M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51968596C>T" "" "VUS" "" "0000550993" "0" "50" "13" "52542732" "52542732" "subst" "0.000609637" "02326" "ATP7B_000184" "g.52542732C>T" "" "" "" "ATP7B(NM_000053.3):c.1555G>A (p.V519M), ATP7B(NM_000053.4):c.1555G>A (p.(Val519Met), p.V519M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51968596C>T" "" "VUS" "" "0000550994" "0" "30" "13" "52542732" "52542732" "subst" "0.000609637" "02329" "ATP7B_000184" "g.52542732C>T" "" "" "" "ATP7B(NM_000053.3):c.1555G>A (p.V519M), ATP7B(NM_000053.4):c.1555G>A (p.(Val519Met), p.V519M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51968596C>T" "" "likely benign" "" "0000550995" "0" "30" "13" "52542755" "52542755" "subst" "9.75705E-5" "02329" "ATP7B_000185" "g.52542755A>G" "" "" "" "ATP7B(NM_000053.4):c.1544-12T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51968619A>G" "" "likely benign" "" "0000550996" "0" "10" "13" "52544805" "52544805" "subst" "0.439466" "02327" "ATP7B_000110" "g.52544805C>G" "" "" "" "ATP7B(NM_000053.3):c.1366G>C (p.V456L), ATP7B(NM_000053.4):c.1366G>C (p.V456L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51970669C>G" "" "benign" "" "0000550997" "0" "30" "13" "52544880" "52544880" "subst" "0.000142975" "02329" "ATP7B_000186" "g.52544880A>G" "" "" "" "ATP7B(NM_000053.4):c.1291T>C (p.C431R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51970744A>G" "" "likely benign" "" "0000550999" "0" "70" "13" "52548066" "52548066" "subst" "5.69782E-5" "02325" "ATP7B_000111" "g.52548066C>A" "" "" "" "ATP7B(NM_000053.3):c.1285+5G>T, ATP7B(NM_000053.4):c.1285+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51973930C>A" "" "likely pathogenic" "" "0000551000" "0" "10" "13" "52548078" "52548078" "subst" "0.00106129" "02330" "ATP7B_000112" "g.52548078G>A" "" "" "" "ATP7B(NM_000053.3):c.1278C>T (p.V426=), ATP7B(NM_000053.4):c.1278C>T (p.V426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51973942G>A" "" "benign" "" "0000551001" "0" "30" "13" "52548126" "52548126" "subst" "5.2809E-5" "01943" "ATP7B_000187" "g.52548126T>C" "" "" "" "ATP7B(NM_000053.3):c.1230A>G (p.P410=), ATP7B(NM_000053.4):c.1230A>G (p.P410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51973990T>C" "" "likely benign" "" "0000551002" "0" "30" "13" "52548126" "52548126" "subst" "5.2809E-5" "02329" "ATP7B_000187" "g.52548126T>C" "" "" "" "ATP7B(NM_000053.3):c.1230A>G (p.P410=), ATP7B(NM_000053.4):c.1230A>G (p.P410=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51973990T>C" "" "likely benign" "" "0000551003" "0" "10" "13" "52548140" "52548140" "subst" "0.444337" "02327" "ATP7B_000113" "g.52548140A>C" "" "" "" "ATP7B(NM_000053.3):c.1216T>G (p.S406A), ATP7B(NM_000053.4):c.1216T>G (p.S406A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974004A>C" "" "benign" "" "0000551004" "0" "30" "13" "52548203" "52548203" "subst" "7.31095E-5" "01943" "ATP7B_000188" "g.52548203C>T" "" "" "" "ATP7B(NM_000053.3):c.1153G>A (p.E385K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974067C>T" "" "likely benign" "" "0000551005" "0" "10" "13" "52548234" "52548234" "subst" "8.1242E-5" "02330" "ATP7B_000189" "g.52548234G>C" "" "" "" "ATP7B(NM_000053.3):c.1122C>G (p.V374=), ATP7B(NM_000053.4):c.1122C>G (p.V374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974098G>C" "" "benign" "" "0000551006" "0" "50" "13" "52548234" "52548234" "subst" "8.1242E-5" "01943" "ATP7B_000189" "g.52548234G>C" "" "" "" "ATP7B(NM_000053.3):c.1122C>G (p.V374=), ATP7B(NM_000053.4):c.1122C>G (p.V374=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974098G>C" "" "VUS" "" "0000551007" "0" "30" "13" "52548307" "52548307" "subst" "3.65827E-5" "02329" "ATP7B_000190" "g.52548307G>A" "" "" "" "ATP7B(NM_000053.4):c.1049C>T (p.P350L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974171G>A" "" "likely benign" "" "0000551009" "0" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "02325" "ATP7B_000117" "g.52548543G>T" "" "" "" "ATP7B(NM_000053.4):c.813C>A (p.C271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974407G>T" "" "pathogenic" "" "0000551010" "0" "30" "13" "52548679" "52548679" "subst" "1.21909E-5" "02329" "ATP7B_000191" "g.52548679C>T" "" "" "" "ATP7B(NM_000053.4):c.677G>A (p.R226Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974543C>T" "" "likely benign" "" "0000551011" "0" "30" "13" "52548806" "52548806" "subst" "6.10625E-5" "02329" "ATP7B_000192" "g.52548806C>T" "" "" "" "ATP7B(NM_000053.4):c.550G>A (p.V184I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974670C>T" "" "likely benign" "" "0000551012" "0" "30" "13" "52548919" "52548919" "subst" "3.25275E-5" "02329" "ATP7B_000193" "g.52548919T>C" "" "" "" "ATP7B(NM_000053.4):c.437A>G (p.K146R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974783T>C" "" "likely benign" "" "0000551013" "0" "90" "13" "52585455" "52585456" "del" "0" "02327" "ATP7B_000131" "g.52585455_52585456del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52011319_52011320del" "" "pathogenic" "" "0000551014" "0" "10" "13" "52585548" "52585548" "subst" "0" "02327" "ATP7B_000127" "g.52585548G>T" "" "" "" "ATP7B(NM_000053.3):c.-75C>A, ATP7B(NM_000053.4):c.-75C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52011412G>T" "" "benign" "" "0000551015" "0" "30" "13" "52586580" "52586580" "subst" "8.12982E-6" "01804" "ALG11_000010" "g.52586580G>C" "" "" "" "ALG11(NM_001004127.2):c.26G>C (p.(Cys9Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.52012444G>C" "" "likely benign" "" "0000614664" "0" "90" "13" "52509763" "52509764" "del" "0" "02325" "ATP7B_000194" "g.52509763_52509764del" "" "" "" "ATP7B(NM_000053.4):c.4092_4093delGT (p.S1365Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51935627_51935628del" "" "pathogenic" "" "0000614665" "0" "90" "13" "52511719" "52511719" "subst" "2.43657E-5" "02327" "ATP7B_000027" "g.52511719C>T" "" "" "" "ATP7B(NM_000053.4):c.3796G>A (p.G1266R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51937583C>T" "" "pathogenic" "" "0000614666" "0" "50" "13" "52511725" "52511725" "subst" "4.06095E-6" "02325" "ATP7B_000195" "g.52511725T>C" "" "" "" "ATP7B(NM_000053.4):c.3790A>G (p.M1264V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51937589T>C" "" "VUS" "" "0000614669" "0" "70" "13" "52520505" "52520505" "subst" "3.66829E-5" "01943" "ATP7B_000196" "g.52520505G>A" "" "" "" "ATP7B(NM_000053.3):c.2975C>T (p.P992L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51946369G>A" "" "likely pathogenic" "" "0000614670" "0" "30" "13" "52523785" "52523785" "subst" "0" "02329" "ATP7B_000197" "g.52523785G>T" "" "" "" "ATP7B(NM_000053.4):c.2865+13C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51949649G>T" "" "likely benign" "" "0000614671" "0" "50" "13" "52524504" "52524504" "subst" "3.6553E-5" "02325" "ATP7B_000198" "g.52524504G>A" "" "" "" "ATP7B(NM_000053.4):c.2479C>T (p.R827W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51950368G>A" "" "VUS" "" "0000614672" "0" "30" "13" "52548078" "52548078" "subst" "0.00106129" "02329" "ATP7B_000112" "g.52548078G>A" "" "" "" "ATP7B(NM_000053.3):c.1278C>T (p.V426=), ATP7B(NM_000053.4):c.1278C>T (p.V426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51973942G>A" "" "likely benign" "" "0000614673" "0" "30" "13" "52549130" "52549130" "subst" "0.000158651" "01943" "ATP7B_000199" "g.52549130T>C" "" "" "" "ATP7B(NM_000053.3):c.226A>G (p.I76V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974994T>C" "" "likely benign" "" "0000623072" "0" "90" "13" "52523797" "52523797" "subst" "1.62786E-5" "01943" "ATP7B_000170" "g.52523797C>T" "" "" "" "ATP7B(NM_000053.3):c.2865+1G>A, ATP7B(NM_000053.4):c.2865+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51949661C>T" "" "pathogenic" "" "0000623073" "0" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "01943" "ATP7B_000182" "g.52539170C>G" "" "" "" "ATP7B(NM_000053.3):c.1708-1G>C, ATP7B(NM_000053.4):c.1708-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51965034C>G" "" "pathogenic" "" "0000623074" "0" "30" "13" "52549264" "52549264" "subst" "8.12764E-6" "01943" "ATP7B_000200" "g.52549264G>A" "" "" "" "ATP7B(NM_000053.3):c.92C>T (p.P31L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51975128G>A" "" "likely benign" "" "0000629181" "1" "90" "13" "52532469" "52532469" "subst" "0.000142234" "00006" "ATP7B_000085" "g.52532469C>A" "" "{PMID:Wei 2011:22216297}" "" "" "" "Germline" "" "" "0" "" "" "g.51958333C>A" "" "pathogenic (recessive)" "" "0000629185" "2" "90" "13" "52523853" "52523853" "del" "4.06464E-6" "00006" "ATP7B_000201" "g.52523853del" "" "{PMID:Wei 2011:22216297}" "" "2810delT" "" "Germline" "" "" "0" "" "" "g.51949717del" "" "pathogenic (recessive)" "" "0000648799" "1" "50" "13" "52509077" "52509077" "subst" "3.67924E-5" "03575" "ATP7B_000202" "g.52509077C>T" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs189601972}" "Germline" "" "rs189601972" "0" "" "" "g.51934941C>T" "" "VUS" "" "0000648800" "1" "70" "13" "52509814" "52509814" "subst" "0.000120603" "03575" "ATP7B_000203" "g.52509814C>T" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783318}" "Germline" "" "rs587783318" "0" "" "" "g.51935678C>T" "" "likely pathogenic" "" "0000648801" "1" "90" "13" "52511706" "52511706" "subst" "0.000207107" "03575" "ATP7B_000150" "g.52511706T>C" "3/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs121907990}" "Germline" "" "rs121907990" "0" "" "" "g.51937570T>C" "" "pathogenic" "" "0000648802" "1" "70" "13" "52513227" "52513227" "subst" "4.06085E-6" "03575" "ATP7B_000032" "g.52513227G>A" "1/2793 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193922107}" "Germline" "" "rs193922107" "0" "" "" "g.51939091G>A" "" "likely pathogenic" "" "0000648803" "1" "30" "13" "52513266" "52513266" "subst" "0.0294672" "03575" "ATP7B_000002" "g.52513266T>C" "68/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "68 heterozygous; {DB:CLININrs7334118}" "Germline" "" "rs7334118" "0" "" "" "g.51939130T>C" "" "likely benign" "" "0000648804" "1" "30" "13" "52520435" "52520435" "subst" "0.0255444" "03575" "ATP7B_000055" "g.52520435C>T" "47/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "47 heterozygous, no homozygous; {DB:CLININrs1801248}" "Germline" "" "rs1801248" "0" "" "" "g.51946299C>T" "" "likely benign" "" "0000648805" "1" "90" "13" "52520550" "52520550" "subst" "8.53152E-5" "03575" "ATP7B_000169" "g.52520550G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs72552255}" "Germline" "" "rs72552255" "0" "" "" "g.51946414G>A" "" "pathogenic" "" "0000648806" "1" "70" "13" "52534334" "52534334" "subst" "0" "03575" "ATP7B_000205" "g.52534334C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121908001}" "Germline" "" "rs121908001" "0" "" "" "g.51960198C>T" "" "likely pathogenic" "" "0000648807" "1" "50" "13" "52534436" "52534436" "subst" "8.1359E-6" "03575" "ATP7B_000206" "g.52534436T>G" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs372436901}" "Germline" "" "rs372436901" "0" "" "" "g.51960300T>G" "" "VUS" "" "0000648808" "1" "50" "13" "52536042" "52536042" "subst" "8.93568E-5" "03575" "ATP7B_000207" "g.52536042C>G" "2/2758 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; {DB:CLININrs587783299}" "Germline" "" "rs587783299" "0" "" "" "g.51961906C>G" "" "VUS" "" "0000648809" "1" "70" "13" "52548491" "52548491" "subst" "2.86079E-5" "03575" "ATP7B_000208" "g.52548491G>A" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "8 heterozygous, no homozygous; {DB:CLININrs121907999}" "Germline" "" "rs121907999" "0" "" "" "g.51974355G>A" "" "likely pathogenic" "" "0000653120" "1" "50" "13" "52515247" "52515247" "subst" "0" "03575" "ATP7B_000204" "g.52515247C>T" "2/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no interpretation available; 2 heterozygous, no homozygous; {DB:CLININrs137853279}" "Germline" "" "rs137853279" "0" "" "" "g.51941111C>T" "" "VUS" "" "0000657312" "0" "30" "13" "52531635" "52531635" "subst" "0" "02329" "ATP7B_000209" "g.52531635T>C" "" "" "" "ATP7B(NM_000053.4):c.2447+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51957499T>C" "" "likely benign" "" "0000657313" "0" "70" "13" "52539030" "52539030" "subst" "4.87333E-5" "02327" "ATP7B_000181" "g.52539030C>T" "" "" "" "ATP7B(NM_000053.4):c.1847G>A (p.R616Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51964894C>T" "" "likely pathogenic" "" "0000657314" "0" "30" "13" "52548694" "52548694" "subst" "6.50105E-5" "01943" "ATP7B_000210" "g.52548694G>T" "" "" "" "ATP7B(NM_000053.3):c.662C>A (p.P221Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.51974558G>T" "" "likely benign" "" "0000669228" "3" "30" "13" "52513266" "52513266" "subst" "0.0294672" "03575" "ATP7B_000002" "g.52513266T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs7334118}" "Germline" "" "rs7334118" "0" "" "" "g.51939130T>C" "" "likely benign" "" "0000679830" "0" "50" "13" "52515244" "52515244" "subst" "4.06075E-6" "01943" "ATP7B_000211" "g.52515244G>A" "" "" "" "ATP7B(NM_000053.3):c.3529C>T (p.Q1177*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679831" "0" "30" "13" "52515275" "52515275" "subst" "8.1215E-6" "01943" "ATP7B_000212" "g.52515275A>G" "" "" "" "ATP7B(NM_000053.3):c.3498T>C (p.S1166=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679832" "0" "50" "13" "52518306" "52518306" "subst" "4.87757E-5" "01943" "ATP7B_000213" "g.52518306C>T" "" "" "" "ATP7B(NM_000053.3):c.3182G>A (p.G1061E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679833" "0" "30" "13" "52542609" "52542609" "subst" "4.06164E-6" "01943" "ATP7B_000214" "g.52542609C>T" "" "" "" "ATP7B(NM_000053.3):c.1678G>A (p.A560T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000679834" "0" "50" "13" "52542732" "52542732" "subst" "0.000609637" "01943" "ATP7B_000184" "g.52542732C>T" "" "" "" "ATP7B(NM_000053.3):c.1555G>A (p.V519M), ATP7B(NM_000053.4):c.1555G>A (p.(Val519Met), p.V519M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679835" "0" "70" "13" "52549234" "52549234" "subst" "0.000219428" "01943" "ATP7B_000215" "g.52549234T>C" "" "" "" "ATP7B(NM_000053.3):c.122A>G (p.N41S), ATP7B(NM_000053.4):c.122A>G (p.N41S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000682983" "3" "70" "13" "52518281" "52518281" "subst" "0.000914337" "00006" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682984" "1" "70" "13" "52520473" "52520473" "subst" "4.21735E-5" "00006" "ATP7B_000058" "g.52520473C>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682985" "3" "70" "13" "52518281" "52518281" "subst" "0.000914337" "00006" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000682994" "1" "50" "13" "52513215" "52513215" "subst" "8.52785E-5" "00006" "ATP7B_000152" "g.52513215C>A" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000682995" "1" "50" "13" "52532627" "52532627" "subst" "0.00313137" "00006" "ATP7B_000096" "g.52532627C>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000683004" "2" "70" "13" "52518281" "52518281" "subst" "0.000914337" "00006" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000683006" "2" "50" "13" "52508876" "52508876" "subst" "0.001089" "00006" "ATP7B_000008" "g.52508876C>T" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000683007" "2" "50" "13" "52532434" "52532434" "subst" "0.00287083" "00006" "ATP7B_000130" "g.52532434A>C" "" "{PMID:Stalke 2018:28776642}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000684789" "0" "30" "13" "52511626" "52511626" "subst" "0.00238505" "00004" "ATP7B_000216" "g.52511626C>T" "frequency 0.025" "{PMID:Le 2019:31180159}" "" "" "classification based on frequency in 305 unrelated individuals" "Germline" "" "" "0" "" "" "g.51937490C>T" "" "likely benign" "" "0000724559" "0" "30" "13" "52508899" "52508899" "subst" "8.13425E-6" "01943" "ATP7B_000217" "g.52508899T>G" "" "" "" "ATP7B(NM_000053.3):c.4391A>C (p.Y1464S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724560" "0" "50" "13" "52509127" "52509127" "subst" "4.9184E-5" "02329" "ATP7B_000147" "g.52509127G>A" "" "" "" "ATP7B(NM_000053.3):c.4163C>T (p.A1388V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724561" "0" "50" "13" "52509814" "52509814" "subst" "0.000120603" "02325" "ATP7B_000203" "g.52509814C>T" "" "" "" "ATP7B(NM_000053.4):c.4039G>A (p.G1347S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724562" "0" "70" "13" "52511412" "52511412" "subst" "4.062E-6" "02329" "ATP7B_000218" "g.52511412C>T" "" "" "" "ATP7B(NM_000053.4):c.4021G>A (p.G1341S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000724563" "0" "30" "13" "52511624" "52511624" "subst" "0.00254774" "02329" "ATP7B_000149" "g.52511624G>A" "" "" "" "ATP7B(NM_000053.4):c.3891C>T (p.V1297=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724564" "0" "30" "13" "52518419" "52518419" "subst" "0.000135398" "01943" "ATP7B_000165" "g.52518419A>G" "" "" "" "ATP7B(NM_000053.3):c.3069T>C (p.T1023=), ATP7B(NM_000053.4):c.3069T>C (p.T1023=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724565" "0" "30" "13" "52520525" "52520525" "subst" "0.00049189" "02326" "ATP7B_000062" "g.52520525G>A" "" "" "" "ATP7B(NM_000053.3):c.2955C>T (p.C985=), ATP7B(NM_000053.4):c.2955C>T (p.C985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724566" "0" "30" "13" "52524520" "52524520" "subst" "1.62475E-5" "02326" "ATP7B_000173" "g.52524520G>A" "" "" "" "ATP7B(NM_000053.4):c.2463C>T (p.P821=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000724567" "0" "50" "13" "52534410" "52534410" "subst" "0.00146412" "02329" "ATP7B_000176" "g.52534410C>T" "" "" "" "ATP7B(NM_000053.3):c.1995G>A (p.M665I), ATP7B(NM_000053.4):c.1995G>A (p.M665I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724568" "0" "50" "13" "52548066" "52548066" "subst" "5.69782E-5" "02329" "ATP7B_000111" "g.52548066C>A" "" "" "" "ATP7B(NM_000053.3):c.1285+5G>T, ATP7B(NM_000053.4):c.1285+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000724569" "0" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "02329" "ATP7B_000117" "g.52548543G>T" "" "" "" "ATP7B(NM_000053.4):c.813C>A (p.C271*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000724570" "0" "30" "13" "52549258" "52549258" "subst" "0.000637926" "02329" "ATP7B_000124" "g.52549258A>G" "" "" "" "ATP7B(NM_000053.4):c.98T>C (p.M33T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000736237" "3" "90" "13" "52520514" "52520514" "subst" "0" "00000" "ATP7B_000060" "g.52520514A>C" "" "{PMID:Biswas 2017:28130426}" "" "c.2966A>C (Leu989Arg)" "" "Germline" "" "" "0" "" "" "g.51946378A>C" "" "pathogenic" "" "0000787518" "3" "70" "13" "52548543" "52548543" "subst" "9.40365E-5" "00000" "ATP7B_000117" "g.52548543G>T" "" "0" "" "" "secondary finding" "Germline" "" "" "0" "" "" "g.51974407G>T" "{CV-RCV:000169298.1}" "likely pathogenic" "" "0000806198" "0" "50" "13" "52509155" "52509155" "subst" "0.00107515" "01943" "ATP7B_000014" "g.52509155G>A" "" "" "" "ATP7B(NM_000053.3):c.4135C>T (p.P1379S, p.(Pro1379Ser)), ATP7B(NM_000053.4):c.4135C>T (p.P1379S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806199" "0" "50" "13" "52511519" "52511519" "subst" "4.06105E-6" "01943" "ATP7B_000219" "g.52511519A>G" "" "" "" "ATP7B(NM_000053.3):c.3914T>C (p.L1305P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806200" "0" "30" "13" "52511729" "52511729" "subst" "4.87318E-5" "01943" "ATP7B_000220" "g.52511729G>A" "" "" "" "ATP7B(NM_000053.3):c.3786C>T (p.V1262=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806201" "0" "90" "13" "52515330" "52515330" "subst" "4.06091E-5" "02325" "ATP7B_000221" "g.52515330A>G" "" "" "" "ATP7B(NM_000053.4):c.3443T>C (p.I1148T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000806202" "0" "30" "13" "52516529" "52516529" "subst" "0.000568902" "01943" "ATP7B_000222" "g.52516529T>C" "" "" "" "ATP7B(NM_000053.3):c.3405A>G (p.A1135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806203" "0" "30" "13" "52516566" "52516566" "subst" "0.000203075" "01943" "ATP7B_000041" "g.52516566G>A" "" "" "" "ATP7B(NM_000053.3):c.3368C>T (p.P1123L), ATP7B(NM_000053.4):c.3368C>T (p.P1123L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806204" "0" "50" "13" "52536042" "52536042" "subst" "8.93568E-5" "01943" "ATP7B_000207" "g.52536042C>G" "" "" "" "ATP7B(NM_000053.3):c.1877G>C (p.G626A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000806205" "0" "30" "13" "52539047" "52539047" "subst" "3.65503E-5" "01943" "ATP7B_000223" "g.52539047C>T" "" "" "" "ATP7B(NM_000053.3):c.1830G>A (p.P610=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806206" "0" "30" "13" "52544722" "52544722" "subst" "1.62526E-5" "01943" "ATP7B_000224" "g.52544722T>C" "" "" "" "ATP7B(NM_000053.3):c.1449A>G (p.R483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806207" "0" "30" "13" "52548078" "52548078" "subst" "0.00106129" "02326" "ATP7B_000112" "g.52548078G>A" "" "" "" "ATP7B(NM_000053.3):c.1278C>T (p.V426=), ATP7B(NM_000053.4):c.1278C>T (p.V426=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000806208" "0" "50" "13" "52548454" "52548454" "subst" "0" "01943" "ATP7B_000225" "g.52548454T>C" "" "" "" "ATP7B(NM_000053.3):c.902A>G (p.Y301C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000841976" "21" "90" "13" "52518367" "52518367" "subst" "3.25584E-5" "00006" "ATP7B_000049" "g.52518367G>A" "" "{PMID:Liu 2020:31746411}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000841977" "11" "90" "13" "52490974" "52548744" "del" "0" "00006" "ATP7B_000226" "g.52490974_52548744del" "" "{PMID:Liu 2020:31746411}" "" "del ex2-21" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000853693" "0" "50" "13" "52511752" "52511752" "subst" "4.06108E-6" "01943" "ATP7B_000228" "g.52511752G>A" "" "" "" "ATP7B(NM_000053.3):c.3763C>T (p.L1255F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000853694" "0" "30" "13" "52516568" "52516568" "subst" "0.00264821" "02326" "ATP7B_000042" "g.52516568T>C" "" "" "" "ATP7B(NM_000053.4):c.3366A>G (p.A1122=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853695" "0" "30" "13" "52518337" "52518337" "subst" "0.000268299" "01943" "ATP7B_000229" "g.52518337G>A" "" "" "" "ATP7B(NM_000053.3):c.3151C>T (p.L1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853696" "0" "30" "13" "52542571" "52542571" "subst" "0.00312736" "02326" "ATP7B_000105" "g.52542571A>G" "" "" "" "ATP7B(NM_000053.4):c.1707+9T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000853697" "0" "90" "13" "52585419" "52585419" "subst" "1.62492E-5" "02325" "ATP7B_000125" "g.52585419T>A" "" "" "" "ATP7B(NM_000053.4):c.51+4A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000863398" "0" "50" "13" "52511409" "52511409" "subst" "0.000324976" "01943" "ATP7B_000227" "g.52511409T>C" "" "" "" "ATP7B(NM_000053.3):c.4021+3A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863399" "0" "30" "13" "52516610" "52516610" "subst" "0.000345197" "01943" "ATP7B_000044" "g.52516610G>A" "" "" "" "ATP7B(NM_000053.3):c.3324C>T (p.N1108=), ATP7B(NM_000053.4):c.3324C>T (p.N1108=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000863400" "0" "50" "13" "52518387" "52518387" "subst" "0.000937284" "02325" "ATP7B_000050" "g.52518387T>C" "" "" "" "ATP7B(NM_000053.4):c.3101A>G (p.H1034R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000863401" "0" "10" "13" "52520465" "52520465" "subst" "0.000930706" "02325" "ATP7B_000056" "g.52520465G>A" "" "" "" "ATP7B(NM_000053.4):c.3015C>T (p.N1005=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000873496" "0" "70" "13" "52532492" "52532492" "subst" "0.000138088" "00000" "ATP7B_000087" "g.52532492G>C" "140" "{PMID:Sun 2018:30076350}" "" "ATP7B(NM_000053.3):c.2333G>T(p.R778L)/c.2310C>G(p.L770L)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.51958356G>C" "" "likely pathogenic" "" "0000873497" "0" "70" "13" "52532469" "52532469" "subst" "0.000142234" "00000" "ATP7B_000085" "g.52532469C>A" "140" "{PMID:Sun 2018:30076350}" "" "ATP7B(NM_000053.3):c.2333G>T(p.R778L)/c.2310C>G(p.L770L)" "" "Germline/De novo (untested)" "?" "" "0" "" "" "g.51958333C>A" "" "likely pathogenic" "" "0000873900" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "00000" "ATP7B_000001" "g.52515354A>G" "" "{PMID:Bell 2011:21228398}" "" "ATP7B 13:51413355 (hg18) het CM044579 84.6%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000873911" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "00000" "ATP7B_000001" "g.52515354A>G" "" "{PMID:Bell 2011:21228398}" "" "ATP7B 13:51413355 (hg18) het CM044579 84.6%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000873926" "0" "10" "13" "52515354" "52515354" "subst" "0.56922" "00000" "ATP7B_000001" "g.52515354A>G" "" "{PMID:Bell 2011:21228398}" "" "ATP7B 13:51413355 (hg18) het CM044579 84.6%" "non-causative, heterozygous" "Germline" "?" "" "0" "" "" "g.51941218A>G" "" "benign" "" "0000891559" "0" "10" "13" "52508979" "52508979" "subst" "0.00707166" "02326" "ATP7B_000012" "g.52508979C>T" "" "" "" "ATP7B(NM_000053.4):c.4311G>A (p.K1437=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000891560" "0" "10" "13" "52542680" "52542680" "subst" "0.00325467" "02327" "ATP7B_000183" "g.52542680A>G" "" "" "" "ATP7B(NM_000053.3):c.1607T>C (p.V536A), ATP7B(NM_000053.4):c.1607T>C (p.V536A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000906013" "3" "90" "13" "52523859" "52523859" "subst" "0.000174815" "00006" "ATP7B_000067" "g.52523859G>A" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.51949723G>A" "" "pathogenic (recessive)" "" "0000906014" "3" "90" "13" "51957580" "51957580" "subst" "0" "00006" "ATP7B_000230" "g.51957580G>A" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.52531716G>A" "" "pathogenic (recessive)" "" "0000906015" "3" "90" "13" "52518281" "52518281" "subst" "0.000914337" "00006" "ATP7B_000047" "g.52518281G>T" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000906087" "1" "90" "13" "52535985" "52535985" "subst" "0.000523888" "00006" "ATP7B_000231" "g.52535985A>C" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.51961849A>C" "" "pathogenic (recessive)" "" "0000906145" "0" "90" "13" "52518281" "52518281" "subst" "0.000914337" "00006" "ATP7B_000047" "g.52518281G>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908608" "0" "70" "13" "52524446" "52524446" "subst" "0" "04243" "ATP7B_000237" "g.52524446A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51950310A>G" "" "likely pathogenic (recessive)" "ACMG" "0000908609" "0" "90" "13" "52532497" "52532497" "subst" "6.09216E-5" "04243" "ATP7B_000089" "g.52532497T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51958361T>C" "" "pathogenic (recessive)" "ACMG" "0000908610" "0" "70" "13" "52524277" "52524277" "subst" "0" "04243" "ATP7B_000236" "g.52524277T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51950141T>C" "" "likely pathogenic (recessive)" "ACMG" "0000908611" "0" "90" "13" "52520449" "52520449" "subst" "0" "04243" "ATP7B_000235" "g.52520449C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.51946313C>A" "" "pathogenic (recessive)" "ACMG" "0000908612" "0" "70" "13" "52520427" "52520427" "subst" "5.44981E-5" "04243" "ATP7B_000232" "g.52520427G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51946291G>A" "" "likely pathogenic (recessive)" "ACMG" "0000908613" "0" "70" "13" "52509810" "52509811" "del" "0" "04243" "ATP7B_000233" "g.52509810_52509811del" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51935674_51935675del" "" "likely pathogenic (recessive)" "ACMG" "0000908614" "3" "90" "13" "52518300" "52518300" "subst" "0" "04243" "ATP7B_000234" "g.52518300G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.51944164G>A" "" "pathogenic (recessive)" "ACMG" "0000908615" "3" "90" "13" "52518300" "52518300" "subst" "0" "04243" "ATP7B_000234" "g.52518300G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.51944164G>A" "" "pathogenic (recessive)" "ACMG" "0000908616" "0" "90" "13" "52511521" "52511521" "subst" "4.06091E-6" "04243" "ATP7B_000238" "g.52511521C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.51937385C>A" "" "pathogenic (recessive)" "ACMG" "0000908617" "1" "90" "13" "52532466" "52532466" "subst" "3.25087E-5" "04243" "ATP7B_000084" "g.52532466C>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51958330C>T" "" "pathogenic (recessive)" "" "0000908618" "1" "90" "13" "52532580" "52532580" "dup" "0" "04243" "ATP7B_000242" "g.52532580dup" "" "{PMID:Stalke 2019:30723317}" "" "2222dupA" "" "Germline" "" "" "0" "" "" "g.51958444dup" "" "pathogenic (recessive)" "" "0000908619" "3" "90" "13" "52518281" "52518281" "subst" "0.000914337" "04243" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908620" "1" "90" "13" "52548441" "52548441" "subst" "0" "04243" "ATP7B_000243" "g.52548441A>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51974305A>T" "" "pathogenic (recessive)" "" "0000908621" "3" "90" "13" "52532497" "52532497" "subst" "6.09216E-5" "04243" "ATP7B_000089" "g.52532497T>C" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51958361T>C" "" "pathogenic (recessive)" "" "0000908622" "3" "90" "13" "52511706" "52511706" "subst" "0.000207107" "04243" "ATP7B_000150" "g.52511706T>C" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000908623" "1" "90" "13" "52518281" "52518281" "subst" "0.000914337" "04243" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908624" "3" "90" "13" "52515349" "52515349" "subst" "1.2183E-5" "04243" "ATP7B_000240" "g.52515349G>A" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51941213G>A" "" "pathogenic (recessive)" "" "0000908625" "3" "90" "13" "52524453" "52524453" "del" "0" "04243" "ATP7B_000241" "g.52524453del" "" "{PMID:Stalke 2019:30723317}" "" "2532delA" "" "Germline" "" "" "0" "" "" "g.51950317del" "" "pathogenic (recessive)" "" "0000908626" "3" "90" "13" "52511706" "52511706" "subst" "0.000207107" "04243" "ATP7B_000150" "g.52511706T>C" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000908627" "3" "90" "13" "52585455" "52585456" "del" "0" "04243" "ATP7B_000131" "g.52585455_52585456del" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.52011319_52011320del" "" "pathogenic (recessive)" "" "0000908628" "1" "90" "13" "52518281" "52518281" "subst" "0.000914337" "04243" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908629" "3" "90" "13" "52511706" "52511706" "subst" "0.000207107" "04243" "ATP7B_000150" "g.52511706T>C" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000908630" "3" "90" "13" "52511706" "52511706" "subst" "0.000207107" "04243" "ATP7B_000150" "g.52511706T>C" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000908631" "3" "90" "13" "52518281" "52518281" "subst" "0.000914337" "04243" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908632" "2" "90" "13" "52518281" "52518281" "subst" "0.000914337" "04243" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908633" "2" "90" "13" "52511625" "52511625" "subst" "0" "04243" "ATP7B_000047" "g.52511625A>T" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51937489A>T" "" "pathogenic (recessive)" "" "0000908634" "2" "90" "13" "52518281" "52518281" "subst" "0.000914337" "04243" "ATP7B_000047" "g.52518281G>T" "" "{PMID:Stalke 2019:30723317}" "" "4054C>T (Q1352*)" "" "Germline" "" "" "0" "" "" "g.51944145G>T" "" "pathogenic (recessive)" "" "0000908635" "2" "90" "13" "52509802" "52509802" "subst" "4.12913E-6" "04243" "ATP7B_000239" "g.52509802G>A" "" "{PMID:Stalke 2019:30723317}" "" "" "" "Germline" "" "" "0" "" "" "g.51935666G>A" "" "pathogenic (recessive)" "" "0000909548" "3" "30" "13" "52543377" "52543377" "subst" "0" "00006" "ATP7B_000244" "g.52543377C>T" "" "{PMID:Chen 2018:30087448}" "" "" "" "Germline" "" "" "0" "" "" "g.51969241C>T" "" "likely benign" "" "0000909549" "3" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "" "{PMID:Chen 2018:30087448}" "" "c.-676A>G" "variant predicted affect binding site copper-regulated transcription factor (MTF1)" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "likely pathogenic (recessive)" "" "0000909550" "0" "90" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "" "{PMID:Chen 2018:30087448}" "" "c.-676A>G" "HepG2 cell expression cloning luciferase reporter assay show 0.34 reduced expression" "In vitro (cloned)" "" "" "0" "" "" "g.52012013T>C" "" "NA" "" "0000909551" "3" "90" "13" "52549183" "52549183" "dup" "0" "00006" "ATP7B_000311" "g.52549183dup" "3/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "172_173insC" "" "Germline" "" "" "0" "" "" "g.51975047dup" "" "pathogenic (recessive)" "" "0000909552" "3" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909553" "3" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909554" "3" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909555" "3" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909556" "3" "90" "13" "52548795" "52548795" "subst" "0" "00006" "ATP7B_000307" "g.52548795A>T" "4/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974659A>T" "" "pathogenic (recessive)" "" "0000909557" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909558" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909559" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909560" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909561" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909562" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909563" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909564" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909565" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909566" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909567" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909568" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909569" "3" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909570" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909571" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909572" "3" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909573" "3" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909574" "3" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909575" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909576" "3" "90" "13" "52531733" "52531733" "subst" "0" "00006" "ATP7B_000292" "g.52531733G>C" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51957597G>C" "" "pathogenic (recessive)" "" "0000909577" "3" "90" "13" "52524472" "52524472" "del" "0" "00006" "ATP7B_000290" "g.52524472del" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2513delA" "" "Germline" "" "" "0" "" "" "g.51950336del" "" "pathogenic (recessive)" "" "0000909578" "3" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909579" "3" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909580" "3" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909581" "1" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909582" "1" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909583" "3" "90" "13" "52516521" "52516521" "subst" "0" "00006" "ATP7B_000274" "g.52516521C>T" "3/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51942385C>T" "" "pathogenic (recessive)" "" "0000909584" "3" "90" "13" "52511411" "52511411" "subst" "0" "00006" "ATP7B_000259" "g.52511411C>A" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937275C>A" "" "pathogenic (recessive)" "" "0000909585" "3" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909586" "3" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909587" "3" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909588" "3" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909589" "3" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909590" "3" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909591" "3" "90" "13" "52516633" "52516633" "subst" "4.06105E-6" "00006" "ATP7B_000277" "g.52516633C>T" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51942497C>T" "" "pathogenic (recessive)" "" "0000909592" "3" "90" "13" "52516633" "52516633" "subst" "4.06105E-6" "00006" "ATP7B_000277" "g.52516633C>T" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51942497C>T" "" "pathogenic (recessive)" "" "0000909593" "3" "90" "13" "52516633" "52516633" "subst" "4.06105E-6" "00006" "ATP7B_000277" "g.52516633C>T" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51942497C>T" "" "pathogenic (recessive)" "" "0000909594" "3" "90" "13" "52516629" "52516629" "subst" "2.03051E-5" "00006" "ATP7B_000276" "g.52516629A>G" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51942493A>G" "" "pathogenic (recessive)" "" "0000909595" "3" "90" "13" "52515217" "52515217" "subst" "0" "00006" "ATP7B_000272" "g.52515217C>G" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51941081C>G" "" "pathogenic (recessive)" "" "0000909596" "3" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909597" "3" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909598" "3" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909599" "3" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909600" "3" "90" "13" "52511706" "52511706" "subst" "0.000207107" "00006" "ATP7B_000150" "g.52511706T>C" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000909601" "3" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909602" "3" "90" "13" "52509769" "52509769" "subst" "0" "00006" "ATP7B_000257" "g.52509769A>C" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51935633A>C" "" "pathogenic (recessive)" "" "0000909603" "3" "90" "13" "52509765" "52509765" "subst" "0" "00006" "ATP7B_000256" "g.52509765G>A" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51935629G>A" "" "pathogenic (recessive)" "" "0000909604" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909605" "1" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909606" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909607" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909608" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909609" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909610" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909611" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909612" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909613" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909614" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909615" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909616" "1" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909617" "1" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909618" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909619" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909620" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909621" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909622" "1" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909623" "1" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909624" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909625" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909626" "1" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909627" "1" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909628" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909629" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909630" "1" "70" "13" "52585933" "52585933" "subst" "0" "00006" "ATP7B_000128" "g.52585933C>T" "0.005" "{PMID:Mukherjee 2014:24094725}" "" "-460G>A" "not in 100 control chromosomes; significantly reduced activity (-11.66) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52011797C>T" "" "VUS" "" "0000909631" "1" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909632" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909633" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909634" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909635" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909636" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909637" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909638" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909639" "1" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909640" "1" "50" "13" "52585993" "52585993" "subst" "0" "00006" "ATP7B_000128" "g.52585993G>A" "0.094" "{PMID:Mukherjee 2014:24094725}" "" "[-520C>T;-128_-123dup5;-75C>A]" "normal activity combined allele (1.04) in luciferase promoter-reporter assay" "Germline" "" "rs9563084" "0" "" "" "g.52011857G>A" "" "VUS" "" "0000909641" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909642" "1" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909643" "1" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909644" "1" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909645" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "no variant 2nd chromosome; not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909646" "1" "70" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "-676A>G" "no variant 2nd chromosome; not in 100 control chromosomes; significantly reduced activity (-1.69) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909647" "1" "70" "13" "52585861" "52585861" "subst" "0" "00006" "ATP7B_000128" "g.52585861G>A" "0.005" "{PMID:Mukherjee 2014:24094725}" "" "-388C>T" "no variant 2nd chromosome; not in 100 control chromosomes; significantly reduced activity (-5.26) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52011725G>A" "" "VUS" "" "0000909648" "1" "70" "13" "52586752" "52586752" "subst" "0" "00006" "ATP7B_000128" "g.52586752G>A" "0.005" "{PMID:Mukherjee 2014:24094725}" "" "-1279C>T" "no variant 2nd chromosome; significantly reduced activity (-77.2) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012616G>A" "" "VUS" "" "0000909649" "0" "10" "13" "52548672" "52548672" "subst" "0" "00006" "ATP7B_000306" "g.52548672T>C" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974536T>C" "" "benign" "" "0000909650" "0" "10" "13" "52548272" "52548272" "subst" "0" "00006" "ATP7B_000304" "g.52548272G>A" "7 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974136G>A" "" "benign" "" "0000909651" "0" "10" "13" "52548249" "52548249" "subst" "0" "00006" "ATP7B_000303" "g.52548249G>A" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974113G>A" "" "benign" "" "0000909652" "0" "10" "13" "52544978" "52544978" "subst" "0" "00006" "ATP7B_000302" "g.52544978T>G" "22 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "rs3742288" "0" "" "" "g.51970842T>G" "" "benign" "" "0000909653" "0" "10" "13" "52544698" "52544698" "subst" "0" "00006" "ATP7B_000301" "g.52544698G>A" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51970562G>A" "" "benign" "" "0000909654" "0" "10" "13" "52539125" "52539125" "subst" "0" "00006" "ATP7B_000300" "g.52539125G>C" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51964989G>C" "" "benign" "" "0000909655" "0" "10" "13" "52524293" "52524293" "subst" "0" "00006" "ATP7B_000288" "g.52524293T>C" "2 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51950157T>C" "" "benign" "" "0000909656" "0" "10" "13" "52523810" "52523810" "subst" "0" "00006" "ATP7B_000284" "g.52523810C>T" "15 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51949674C>T" "" "benign" "" "0000909657" "0" "10" "13" "52520435" "52520435" "subst" "0.0255444" "00006" "ATP7B_000055" "g.52520435C>T" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "rs1801248" "0" "" "" "g.51946299C>T" "" "benign" "" "0000909658" "0" "10" "13" "52513335" "52513335" "subst" "0.00256723" "00006" "ATP7B_000154" "g.52513335G>A" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51939199G>A" "" "benign" "" "0000909659" "0" "10" "13" "52513470" "52513470" "subst" "0" "00006" "ATP7B_000271" "g.52513470G>A" "3 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51939334G>A" "" "benign" "" "0000909660" "0" "10" "13" "52513187" "52513187" "subst" "0" "00006" "ATP7B_000269" "g.52513187C>T" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51939051C>T" "" "benign" "" "0000909661" "0" "10" "13" "52511606" "52511606" "subst" "0.537842" "00006" "ATP7B_000026" "g.52511606G>A" "109 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "rs2282057" "0" "" "" "g.51937470G>A" "" "benign" "" "0000909662" "0" "10" "13" "52511362" "52511362" "subst" "0.566175" "00006" "ATP7B_000258" "g.52511362C>G" "95 cases" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "rs9535795" "0" "" "" "g.51937226C>G" "" "benign" "" "0000909663" "0" "10" "13" "52509737" "52509737" "subst" "4.11384E-6" "00006" "ATP7B_000255" "g.52509737C>T" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51935601C>T" "" "benign" "" "0000909664" "0" "10" "13" "52508976" "52508976" "subst" "0" "00006" "ATP7B_000253" "g.52508976T>C" "1 case" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51934840T>C" "" "benign" "" "0000909665" "0" "70" "13" "52586922" "52586922" "subst" "0" "00006" "ALG11_000014" "g.52586922T>C" "0.011" "{PMID:Mukherjee 2014:24094725}" "" "-1449A>G" "not in 100 control chromosomes; significantly ncreased activity (1.17) in luciferase promoter-reporter assay" "Germline" "" "rs77505745" "0" "" "" "g.52012786T>C" "" "VUS" "" "0000909666" "0" "30" "13" "52586575" "52586575" "subst" "4.47104E-5" "00006" "ATP7B_000128" "g.52586575C>G" "0.005" "{PMID:Mukherjee 2014:24094725}" "" "-1102G>C" "not in 100 control chromosomes; normal activity (1.01) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012439C>G" "" "VUS" "" "0000909667" "0" "30" "13" "52586149" "52586149" "subst" "0" "00006" "ATP7B_000245" "g.52586149T>C" "0.017" "{PMID:Mukherjee 2014:24094725}" "" "-853_-852insG" "not in 100 control chromosomes; normal activity (-0.045) in luciferase promoter-reporter assay" "Germline" "" "" "0" "" "" "g.52012013T>C" "" "VUS" "" "0000909668" "0" "50" "13" "52508847" "52508847" "subst" "0" "00006" "ATP7B_000252" "g.52508847G>A" "0.005" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51934711G>A" "" "VUS" "" "0000909669" "0" "50" "13" "52508049" "52508049" "subst" "0" "00006" "ATP7B_000251" "g.52508049G>A" "0.005" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51933913G>A" "" "VUS" "" "0000909670" "0" "50" "13" "52507720" "52507720" "subst" "0" "00006" "ATP7B_000250" "g.52507720C>T" "0.070" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "rs1051332" "0" "" "" "g.51933584C>T" "" "VUS" "" "0000909671" "0" "50" "13" "52507507" "52507507" "subst" "0" "00006" "ATP7B_000249" "g.52507507C>T" "0.011" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "rs41292780" "0" "" "" "g.51933371C>T" "" "VUS" "" "0000909672" "0" "50" "13" "52507148" "52507148" "subst" "0" "00006" "ATP7B_000248" "g.52507148G>A" "0.011" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "rs9535794" "0" "" "" "g.51933012G>A" "" "VUS" "" "0000909673" "0" "50" "13" "52507110" "52507110" "subst" "0" "00006" "ATP7B_000247" "g.52507110G>C" "0.094" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "rs928169" "0" "" "" "g.51932974G>C" "" "VUS" "" "0000909674" "0" "50" "13" "52506950" "52506950" "subst" "0" "00006" "ATP7B_000246" "g.52506950T>C" "0.011" "{PMID:Mukherjee 2014:24094725}" "" "" "not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51932814T>C" "" "VUS" "" "0000909675" "0" "10" "13" "52549157" "52549157" "subst" "0" "00006" "ATP7B_000310" "g.52549157T>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51975021T>C" "" "benign" "" "0000909676" "0" "10" "13" "52548950" "52548950" "subst" "0.000313008" "00006" "ATP7B_000129" "g.52548950T>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51974814T>C" "" "benign" "" "0000909677" "0" "90" "13" "52539106" "52539106" "subst" "0" "00006" "ATP7B_000299" "g.52539106C>G" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51964970C>G" "" "pathogenic (recessive)" "" "0000909678" "0" "70" "13" "52539094" "52539094" "subst" "0" "00006" "ATP7B_000298" "g.52539094C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51964958C>T" "" "likely pathogenic (recessive)" "" "0000909679" "0" "90" "13" "52532674" "52532674" "subst" "1.62916E-5" "00006" "ATP7B_000296" "g.52532674C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51958538C>T" "" "pathogenic (recessive)" "" "0000909680" "0" "70" "13" "52532509" "52532509" "subst" "0" "00006" "ATP7B_000294" "g.52532509C>T" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51958373C>T" "" "likely pathogenic (recessive)" "" "0000909681" "0" "70" "13" "52532505" "52532505" "subst" "3.24905E-5" "00006" "ATP7B_000091" "g.52532505G>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51958369G>A" "" "likely pathogenic (recessive)" "" "0000909682" "0" "90" "13" "52532469" "52532469" "subst" "3.25105E-5" "00006" "ATP7B_000293" "g.52532469C>T" "3/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51958333C>T" "" "pathogenic (recessive)" "" "0000909683" "0" "70" "13" "52531716" "52531716" "subst" "2.84271E-5" "00006" "ATP7B_000230" "g.52531716G>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51957580G>A" "" "likely pathogenic (recessive)" "" "0000909684" "0" "50" "13" "52524419" "52524419" "subst" "0" "00006" "ATP7B_000289" "g.52524419G>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51950283G>A" "" "VUS" "" "0000909685" "0" "70" "13" "52524268" "52524268" "subst" "0.000670067" "00006" "ATP7B_000072" "g.52524268C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51950132C>T" "" "likely pathogenic (recessive)" "" "0000909686" "0" "70" "13" "52524201" "52524201" "subst" "0" "00006" "ATP7B_000286" "g.52524201C>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51950065C>A" "" "likely pathogenic (recessive)" "" "0000909687" "0" "70" "13" "52523859" "52523859" "subst" "0.000174815" "00006" "ATP7B_000067" "g.52523859G>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51949723G>A" "" "likely pathogenic (recessive)" "" "0000909688" "0" "90" "13" "52520550" "52520550" "subst" "8.53152E-5" "00006" "ATP7B_000169" "g.52520550G>A" "4/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51946414G>A" "" "pathogenic (recessive)" "" "0000909689" "0" "70" "13" "52520548" "52520548" "subst" "0" "00006" "ATP7B_000283" "g.52520548C>T" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51946412C>T" "" "likely pathogenic (recessive)" "" "0000909690" "0" "70" "13" "52520518" "52520518" "subst" "0" "00006" "ATP7B_000282" "g.52520518C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51946382C>T" "" "likely pathogenic (recessive)" "" "0000909691" "0" "70" "13" "52520472" "52520472" "subst" "3.37299E-5" "00006" "ATP7B_000281" "g.52520472G>A" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51946336G>A" "" "likely pathogenic (recessive)" "" "0000909692" "0" "90" "13" "52518397" "52518397" "subst" "0" "00006" "ATP7B_000280" "g.52518397T>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51944261T>C" "" "pathogenic (recessive)" "" "0000909693" "0" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909694" "0" "70" "13" "52516652" "52516652" "subst" "0" "00006" "ATP7B_000278" "g.52516652G>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51942516G>C" "" "likely pathogenic (recessive)" "" "0000909695" "0" "90" "13" "52516633" "52516633" "subst" "4.06105E-6" "00006" "ATP7B_000277" "g.52516633C>T" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51942497C>T" "" "pathogenic (recessive)" "" "0000909696" "0" "70" "13" "52516618" "52516618" "subst" "0.000125889" "00006" "ATP7B_000275" "g.52516618C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51942482C>T" "" "likely pathogenic (recessive)" "" "0000909697" "0" "90" "13" "52515241" "52515241" "subst" "4.06075E-6" "00006" "ATP7B_000273" "g.52515241T>C" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51941105T>C" "" "pathogenic (recessive)" "" "0000909698" "0" "70" "13" "52515217" "52515217" "subst" "0" "00006" "ATP7B_000272" "g.52515217C>G" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51941081C>G" "" "likely pathogenic (recessive)" "" "0000909699" "0" "70" "13" "52513242" "52513242" "subst" "0" "00006" "ATP7B_000270" "g.52513242T>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51939106T>C" "" "likely pathogenic (recessive)" "" "0000909700" "0" "70" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "likely pathogenic (recessive)" "" "0000909701" "0" "70" "13" "52511774" "52511774" "subst" "4.06108E-6" "00006" "ATP7B_000267" "g.52511774G>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937638G>C" "" "likely pathogenic (recessive)" "" "0000909702" "0" "90" "13" "52511706" "52511706" "subst" "0.000207107" "00006" "ATP7B_000150" "g.52511706T>C" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000909703" "0" "70" "13" "52511683" "52511683" "subst" "0" "00006" "ATP7B_000266" "g.52511683C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937547C>T" "" "likely pathogenic (recessive)" "" "0000909704" "0" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909705" "0" "70" "13" "52511508" "52511508" "subst" "0" "00006" "ATP7B_000262" "g.52511508C>G" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937372C>G" "" "likely pathogenic (recessive)" "" "0000909706" "0" "70" "13" "52511471" "52511471" "subst" "0" "00006" "ATP7B_000260" "g.52511471A>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937335A>T" "" "likely pathogenic (recessive)" "" "0000909707" "0" "70" "13" "52509013" "52509013" "subst" "2.84615E-5" "00006" "ATP7B_000254" "g.52509013C>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51934877C>A" "" "likely pathogenic (recessive)" "" "0000909708" "0" "90" "13" "52549183" "52549183" "dup" "0" "00006" "ATP7B_000311" "g.52549183dup" "3/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "172_173insC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51975047dup" "" "pathogenic (recessive)" "" "0000909709" "0" "90" "13" "52548984" "52548991" "dup" "0" "00006" "ATP7B_000309" "g.52548984_52548991dup" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "365_372dup8" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51974848_51974855dup" "" "pathogenic (recessive)" "" "0000909710" "0" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909711" "0" "70" "13" "52534346" "52534348" "del" "0" "00006" "ATP7B_000297" "g.52534346_52534348del" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2060_2062delACA" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51960210_51960212del" "" "likely pathogenic (recessive)" "" "0000909712" "0" "90" "13" "52532503" "52532503" "dup" "0" "00006" "ATP7B_000090" "g.52532503dup" "6/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2298_2299insC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51958367dup" "" "pathogenic (recessive)" "" "0000909713" "0" "90" "13" "52524487" "52524487" "dup" "0" "00006" "ATP7B_000291" "g.52524487dup" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2495_2496insG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51950351dup" "" "pathogenic (recessive)" "" "0000909714" "0" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909715" "0" "70" "13" "52511679" "52511679" "dup" "0" "00006" "ATP7B_000265" "g.52511679dup" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3836insA" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937543dup" "" "likely pathogenic (recessive)" "" "0000909716" "0" "70" "13" "52511634" "52511634" "del" "0" "00006" "ATP7B_000264" "g.52511634del" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3881delC" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937498del" "" "likely pathogenic (recessive)" "" "0000909717" "0" "90" "13" "52548795" "52548795" "subst" "0" "00006" "ATP7B_000307" "g.52548795A>T" "4/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51974659A>T" "" "pathogenic (recessive)" "" "0000909718" "0" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909719" "0" "70" "13" "52532666" "52532666" "subst" "4.06881E-6" "00006" "ATP7B_000295" "g.52532666C>T" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51958530C>T" "" "likely pathogenic (recessive)" "" "0000909720" "0" "70" "13" "52511478" "52511478" "subst" "8.12176E-5" "00006" "ATP7B_000025" "g.52511478G>A" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51937342G>A" "" "likely pathogenic (recessive)" "" "0000909721" "0" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909722" "0" "70" "13" "52523934" "52523934" "subst" "2.04165E-5" "00006" "ATP7B_000285" "g.52523934T>C" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported; not in 100 control chromosomes" "Germline" "" "" "0" "" "" "g.51949798T>C" "" "likely pathogenic (recessive)" "" "0000909723" "0" "90" "13" "52516521" "52516521" "subst" "0" "00006" "ATP7B_000274" "g.52516521C>T" "3/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.51942385C>T" "" "pathogenic (recessive)" "" "0000909724" "2" "90" "13" "52548466" "52548466" "del" "0" "00006" "ATP7B_000305" "g.52548466del" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "892delC" "" "Germline" "" "" "0" "" "" "g.51974330del" "" "pathogenic (recessive)" "" "0000909725" "2" "90" "13" "52548795" "52548795" "subst" "0" "00006" "ATP7B_000307" "g.52548795A>T" "4/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974659A>T" "" "pathogenic (recessive)" "" "0000909726" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909727" "2" "90" "13" "52524291" "52524291" "del" "0" "00006" "ATP7B_000287" "g.52524291del" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2582delC" "" "Germline" "" "" "0" "" "" "g.51950155del" "" "pathogenic (recessive)" "" "0000909728" "2" "90" "13" "52524291" "52524291" "del" "0" "00006" "ATP7B_000287" "g.52524291del" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2582delC" "" "Germline" "" "" "0" "" "" "g.51950155del" "" "pathogenic (recessive)" "" "0000909729" "2" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909730" "2" "90" "13" "52511706" "52511706" "subst" "0.000207107" "00006" "ATP7B_000150" "g.52511706T>C" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000909731" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909732" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909733" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909734" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909735" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909736" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909737" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909738" "2" "90" "13" "52511706" "52511706" "subst" "0.000207107" "00006" "ATP7B_000150" "g.52511706T>C" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000909739" "2" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909740" "2" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909741" "2" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909742" "2" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909743" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909744" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909745" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909746" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "30/219 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909747" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909748" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909749" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909750" "2" "90" "13" "52511793" "52511793" "subst" "0" "00006" "ATP7B_000268" "g.52511793G>A" "20/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937657G>A" "" "pathogenic (recessive)" "" "0000909751" "2" "50" "13" "52511620" "52511620" "subst" "3.65714E-5" "00006" "ATP7B_000263" "g.52511620G>A" "11/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937484G>A" "" "VUS" "" "0000909752" "2" "90" "13" "52511706" "52511706" "subst" "0.000207107" "00006" "ATP7B_000150" "g.52511706T>C" "7/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937570T>C" "" "pathogenic (recessive)" "" "0000909753" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909754" "2" "90" "13" "52515241" "52515241" "subst" "4.06075E-6" "00006" "ATP7B_000273" "g.52515241T>C" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51941105T>C" "" "pathogenic (recessive)" "" "0000909755" "2" "90" "13" "52548905" "52548909" "del" "0" "00006" "ATP7B_000308" "g.52548905_52548909del" "15/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "448_452del5" "" "Germline" "" "" "0" "" "" "g.51974769_51974773del" "" "pathogenic (recessive)" "" "0000909756" "1" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909757" "1" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000909758" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909759" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909760" "2" "90" "13" "52532503" "52532503" "dup" "0" "00006" "ATP7B_000090" "g.52532503dup" "6/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "2298_2299insC" "" "Germline" "" "" "0" "" "" "g.51958367dup" "" "pathogenic (recessive)" "" "0000909761" "2" "50" "13" "52585993" "52585993" "subst" "0" "00006" "ATP7B_000128" "g.52585993G>A" "0.094" "{PMID:Mukherjee 2014:24094725}" "" "-520C>T" "not in 100 control chromosomes; reduced activity (-0.37) in luciferase promoter-reporter assay" "Germline" "" "rs9563084" "0" "" "" "g.52011857G>A" "" "VUS" "" "0000909762" "2" "70" "13" "52511495" "52511495" "subst" "0" "00006" "ATP7B_000261" "g.52511495A>G" "1/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51937359A>G" "" "likely pathogenic (recessive)" "" "0000909763" "2" "50" "13" "52585993" "52585993" "subst" "0" "00006" "ATP7B_000128" "g.52585993G>A" "0.094" "{PMID:Mukherjee 2014:24094725}" "" "[-520C>T;-128_-123dup5]" "reduced activity combined allele (-0.35) in luciferase promoter-reporter assay" "Germline" "" "rs9563084" "0" "" "" "g.52011857G>A" "" "VUS" "" "0000909764" "2" "70" "13" "52585596" "52585600" "dup" "0" "00006" "ATP7B_000312" "g.52585596_52585600dup" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-520C>T;-128_-123dup5]" "reduced activity combined allele (-0.35) in luciferase promoter-reporter assay" "Germline" "" "rs148013251" "0" "" "" "g.52011460_52011464dup" "" "VUS" "" "0000909765" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909766" "2" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909767" "2" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909768" "2" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909769" "2" "90" "13" "52539170" "52539170" "subst" "2.84396E-5" "00006" "ATP7B_000182" "g.52539170C>G" "" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51965034C>G" "" "pathogenic (recessive)" "" "0000909770" "1" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909771" "2" "90" "13" "52548984" "52548991" "dup" "0" "00006" "ATP7B_000309" "g.52548984_52548991dup" "2/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "365_372dup8" "" "Germline" "" "" "0" "" "" "g.51974848_51974855dup" "" "pathogenic (recessive)" "" "0000909772" "1" "70" "13" "52585596" "52585600" "dup" "0" "00006" "ATP7B_000312" "g.52585596_52585600dup" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-520C>T;-128_-123dup5;-75C>A]" "normal activity combined allele (1.04) in luciferase promoter-reporter assay" "Germline" "" "rs148013251" "0" "" "" "g.52011460_52011464dup" "" "VUS" "" "0000909773" "3" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909774" "2" "70" "13" "52585881" "52585881" "subst" "0" "00006" "ATP7B_000128" "g.52585881A>G" "0.041" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs28362532" "0" "" "" "g.52011745A>G" "" "VUS" "" "0000909775" "2" "90" "13" "52518306" "52518306" "subst" "4.87757E-5" "00006" "ATP7B_000213" "g.52518306C>T" "43/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51944170C>T" "" "pathogenic (recessive)" "" "0000909776" "2" "90" "13" "52548543" "52548543" "subst" "9.40365E-5" "00006" "ATP7B_000117" "g.52548543G>T" "63/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "" "" "Germline" "" "" "0" "" "" "g.51974407G>T" "" "pathogenic (recessive)" "" "0000909777" "3" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "" "significantly increased activity (1.54) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909778" "2" "50" "13" "52585993" "52585993" "subst" "0" "00006" "ATP7B_000128" "g.52585993G>A" "0.094" "{PMID:Mukherjee 2014:24094725}" "" "[-520C>T;-128_-123dup5;-75C>A]" "normal activity combined allele (1.04) in luciferase promoter-reporter assay" "Germline" "" "rs9563084" "0" "" "" "g.52011857G>A" "" "VUS" "" "0000909779" "2" "70" "13" "52585596" "52585600" "dup" "0" "00006" "ATP7B_000312" "g.52585596_52585600dup" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-520C>T;-128_-123dup5;-75C>A]" "normal activity combined allele (1.04) in luciferase promoter-reporter assay" "Germline" "" "rs148013251" "0" "" "" "g.52011460_52011464dup" "" "VUS" "" "0000909780" "1" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "no variant 2nd chromosome; significantly reduced activity combined allele (-11.46) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909781" "1" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "[-408T>C;-75C>A]" "no variant 2nd chromosome; not in 100 control chromosomes; significantly increased activity (1.54) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909782" "1" "70" "13" "52585548" "52585548" "subst" "0" "00006" "ATP7B_000127" "g.52585548G>T" "0.082" "{PMID:Mukherjee 2014:24094725}" "" "" "no variant 2nd chromosome; not in 100 control chromosomes; significantly increased activity (1.54) in luciferase promoter-reporter assay" "Germline" "" "rs2277448" "0" "" "" "g.52011412G>T" "" "VUS" "" "0000909783" "1" "90" "13" "52518342" "52518342" "del" "0" "00006" "ATP7B_000279" "g.52518342del" "14/291 case chromosomes" "{PMID:Mukherjee 2014:24094725}" "" "3146delC" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.51944206del" "" "pathogenic (recessive)" "" "0000914114" "0" "30" "13" "52542680" "52542680" "subst" "0.00325467" "02326" "ATP7B_000183" "g.52542680A>G" "" "" "" "ATP7B(NM_000053.3):c.1607T>C (p.V536A), ATP7B(NM_000053.4):c.1607T>C (p.V536A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000917596" "0" "90" "13" "52548851" "52548851" "subst" "0" "03779" "ATP7B_000314" "g.52548851G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000918169" "0" "70" "13" "52513224" "52513224" "subst" "0" "03779" "ATP7B_000313" "g.52513224C>T" "" "" "" "" "" "Unknown" "" "rs1486594906" "0" "" "" "" "" "likely pathogenic" "" "0000925814" "0" "50" "13" "52508540" "52508540" "subst" "0" "02326" "ATP7B_000315" "g.52508540G>C" "" "" "" "ATP7B(NM_000053.4):c.*352C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925815" "0" "70" "13" "52509166" "52509166" "subst" "0" "02326" "ATP7B_000316" "g.52509166C>G" "" "" "" "ATP7B(NM_000053.4):c.4125-1G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000925816" "0" "10" "13" "52520435" "52520435" "subst" "0.0255444" "02325" "ATP7B_000055" "g.52520435C>T" "" "" "" "ATP7B(NM_000053.4):c.3045G>A (p.L1015=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000925817" "0" "70" "13" "52549234" "52549234" "subst" "0.000219428" "02326" "ATP7B_000215" "g.52549234T>C" "" "" "" "ATP7B(NM_000053.3):c.122A>G (p.N41S), ATP7B(NM_000053.4):c.122A>G (p.N41S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950174" "0" "30" "13" "52520404" "52520404" "subst" "0.00199531" "02326" "ATP7B_000166" "g.52520404C>A" "" "" "" "ATP7B(NM_000053.4):c.3060+16G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000950175" "0" "70" "13" "52520421" "52520421" "subst" "0" "02326" "ATP7B_000317" "g.52520421T>C" "" "" "" "ATP7B(NM_000053.4):c.3059A>G (p.K1020R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000950176" "0" "50" "13" "52524403" "52524403" "subst" "4.06108E-6" "02327" "ATP7B_000074" "g.52524403C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000950177" "0" "90" "13" "52531716" "52531716" "subst" "2.84271E-5" "02326" "ATP7B_000230" "g.52531716G>A" "" "" "" "ATP7B(NM_000053.4):c.2383C>T (p.L795F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950178" "0" "90" "13" "52532503" "52532503" "dup" "0" "02326" "ATP7B_000090" "g.52532503dup" "" "" "" "ATP7B(NM_000053.4):c.2298delGinsGC (p.M769Hfs*26), ATP7B(NM_000053.4):c.2304dupC (p.M769Hfs*26)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000950179" "0" "90" "13" "52549102" "52549102" "subst" "0" "02326" "ATP7B_000318" "g.52549102C>A" "" "" "" "ATP7B(NM_000053.4):c.254G>T (p.G85V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967341" "0" "90" "13" "52509763" "52509764" "del" "0" "02326" "ATP7B_000194" "g.52509763_52509764del" "" "" "" "ATP7B(NM_000053.4):c.4092_4093delGT (p.S1365Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000967342" "0" "70" "13" "52511673" "52511673" "subst" "0" "02325" "ATP7B_000319" "g.52511673C>A" "" "" "" "ATP7B(NM_000053.4):c.3842G>T (p.G1281V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967343" "0" "70" "13" "52516659" "52516659" "subst" "9.34109E-5" "02325" "ATP7B_000320" "g.52516659G>A" "" "" "" "ATP7B(NM_000053.4):c.3275C>T (p.T1092M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000967344" "0" "50" "13" "52548914" "52548914" "subst" "0.00117127" "02325" "ATP7B_000321" "g.52548914G>A" "" "" "" "ATP7B(NM_000053.4):c.442C>T (p.R148W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000972027" "0" "70" "13" "52539004" "52539007" "del" "0" "03779" "ATP7B_000322" "g.52539004_52539007del" "" "" "" "" "" "CLASSIFICATION record" "" "rs2139767189" "0" "" "" "" "" "likely pathogenic" "" "0000972192" "0" "70" "13" "52520421" "52520421" "subst" "0" "03779" "ATP7B_000317" "g.52520421T>C" "" "" "" "" "" "CLASSIFICATION record" "" "rs2139046115" "0" "" "" "" "" "likely pathogenic" "" "0000980703" "0" "90" "13" "52513192" "52513192" "subst" "4.06118E-6" "02327" "ATP7B_000030" "g.52513192T>G" "" "" "" "ATP7B(NM_000053.4):c.3694A>C (p.T1232P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000980704" "0" "70" "13" "52513192" "52513192" "subst" "4.06118E-6" "02325" "ATP7B_000030" "g.52513192T>G" "" "" "" "ATP7B(NM_000053.4):c.3694A>C (p.T1232P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000985372" "0" "70" "13" "52524413" "52524413" "subst" "0" "03779" "ATP7B_000323" "g.52524413A>G" "" "" "" "" "" "CLASSIFICATION record" "" "rs1057520235" "0" "" "" "" "" "likely pathogenic" "" "0001000611" "0" "90" "13" "52511697" "52511697" "subst" "2.03057E-5" "02326" "ATP7B_000324" "g.52511697G>A" "" "" "" "ATP7B(NM_000053.4):c.3818C>T (p.P1273L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000612" "0" "90" "13" "52523859" "52523859" "subst" "0.000174815" "01804" "ATP7B_000067" "g.52523859G>A" "" "" "" "ATP7B(NM_000053.3):c.2804C>T (p.(Thr935Met)), ATP7B(NM_000053.4):c.2804C>T (p.T935M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001000613" "0" "30" "13" "52523907" "52523907" "subst" "4.07398E-5" "01804" "ATP7B_000325" "g.52523907C>T" "" "" "" "ATP7B(NM_000053.3):c.2756G>A (p.(Arg919Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001000614" "0" "50" "13" "52536004" "52536004" "subst" "5.27927E-5" "02327" "ATP7B_000326" "g.52536004G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001011512" "0" "70" "13" "52511716" "52511716" "subst" "0" "03779" "ATP7B_000327" "g.52511716C>T" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001011513" "0" "70" "13" "52548686" "52548686" "dup" "0" "03779" "ATP7B_000328" "g.52548686dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001015091" "0" "50" "13" "52518427" "52518427" "subst" "1.23447E-5" "02329" "ATP7B_000329" "g.52518427T>C" "" "" "" "ATP7B(NM_000053.4):c.3061A>G (p.I1021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015092" "0" "50" "13" "52524494" "52524494" "subst" "0" "02325" "ATP7B_000330" "g.52524494A>C" "" "" "" "ATP7B(NM_000053.4):c.2489T>G (p.I830S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001015093" "0" "90" "13" "52532497" "52532497" "subst" "6.09216E-5" "02325" "ATP7B_000089" "g.52532497T>C" "" "" "" "ATP7B(NM_000053.4):c.2305A>G (p.M769V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001015095" "0" "70" "13" "52549234" "52549234" "subst" "0.000219428" "02329" "ATP7B_000215" "g.52549234T>C" "" "" "" "ATP7B(NM_000053.3):c.122A>G (p.N41S), ATP7B(NM_000053.4):c.122A>G (p.N41S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001020297" "0" "90" "13" "52539132" "52539133" "del" "0" "03779" "ATP7B_000331" "g.52539132_52539133del" "" "" "" "" "" "CLASSIFICATION record" "" "rs753962912" "0" "" "" "" "" "pathogenic" "" "0001026340" "0" "90" "13" "52515247" "52515247" "subst" "0" "02326" "ATP7B_000204" "g.52515247C>T" "" "" "" "ATP7B(NM_000053.4):c.3526G>A (p.G1176R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001026341" "0" "50" "13" "52518427" "52518427" "subst" "1.23447E-5" "02325" "ATP7B_000329" "g.52518427T>C" "" "" "" "ATP7B(NM_000053.4):c.3061A>G (p.I1021V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001026342" "0" "90" "13" "52548779" "52548779" "subst" "0" "02326" "ATP7B_000332" "g.52548779G>A" "" "" "" "ATP7B(NM_000053.4):c.577C>T (p.Q193*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001029857" "0" "90" "13" "52548511" "52548511" "del" "4.09209E-6" "03779" "ATP7B_000333" "g.52548511del" "" "" "" "" "" "CLASSIFICATION record" "" "rs193922111" "0" "" "" "" "" "pathogenic" "" "0001039728" "0" "70" "13" "52524211" "52524211" "subst" "0" "01804" "ATP7B_000334" "g.52524211T>A" "" "" "" "ATP7B(NM_000053.4):c.2662A>T (p.(Thr888Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001039729" "0" "50" "13" "52542732" "52542732" "subst" "0.000609637" "01804" "ATP7B_000184" "g.52542732C>T" "" "" "" "ATP7B(NM_000053.3):c.1555G>A (p.V519M), ATP7B(NM_000053.4):c.1555G>A (p.(Val519Met), p.V519M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046452" "0" "50" "13" "52520502" "52520502" "subst" "7.74979E-5" "02327" "ATP7B_000335" "g.52520502G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046454" "0" "50" "13" "52548066" "52548066" "subst" "4.06987E-6" "02327" "ATP7B_000336" "g.52548066C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001047864" "0" "90" "13" "52516575" "52516575" "subst" "0" "03779" "ATP7B_000337" "g.52516575A>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" ## 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 ATP7B ## Count = 767 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "0000000298" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000299" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000300" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000301" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000302" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000303" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000304" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000306" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000307" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000308" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000309" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000311" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000312" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000313" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000314" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000315" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000316" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000317" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000318" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000319" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000320" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000321" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000322" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000324" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000325" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000326" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000327" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000328" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000329" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000330" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000331" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000332" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000333" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000334" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000335" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000336" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000337" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000338" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000339" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000340" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000341" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000342" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000343" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000344" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000345" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000346" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000347" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000348" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000349" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000350" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000351" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000352" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000353" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000354" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000355" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000356" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000357" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000358" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000359" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000360" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000361" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000362" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000363" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000364" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000365" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000366" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000367" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000368" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000369" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000370" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000371" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000372" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000373" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000374" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000375" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000376" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000377" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000378" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000379" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000380" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000381" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000382" "00024144" "00" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000000383" "00024144" "00" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000000384" "00024144" "00" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000000385" "00024144" "00" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000000386" "00024144" "00" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000000387" "00024144" "00" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000000388" "00024144" "00" "3716" "0" "3716" "0" "c.3716T>G" "r.(?)" "p.(Val1239Gly)" "" "0000000389" "00024144" "00" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000000390" "00024144" "00" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000040364" "00024144" "30" "1911" "0" "1911" "0" "c.1911C>T" "r.(?)" "p.(Asn637=)" "6" "0000116935" "00024144" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(=)" "p.(Leu540=)" "4" "0000116936" "00024144" "90" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Thr991Met)" "13" "0000247188" "00024144" "10" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Ser406Ala)" "" "0000247189" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000247190" "00024144" "10" "2355" "13" "2355" "13" "c.2355+13T>G" "r.(=)" "p.(=)" "" "0000247193" "00024144" "10" "1707" "9" "1707" "9" "c.1707+9T>C" "r.(=)" "p.(=)" "" "0000247829" "00024144" "10" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Ser406Ala)" "" "0000248171" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000248172" "00024144" "30" "2355" "13" "2355" "13" "c.2355+13T>G" "r.(=)" "p.(=)" "" "0000249455" "00024144" "30" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Met33Thr)" "" "0000249846" "00024144" "50" "3413" "-12" "3413" "-12" "c.3413-12T>A" "r.(=)" "p.(=)" "" "0000249856" "00024144" "10" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Ser406Ala)" "" "0000249997" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000250013" "00024144" "10" "2355" "13" "2355" "13" "c.2355+13T>G" "r.(=)" "p.(=)" "" "0000250261" "00024144" "30" "1707" "9" "1707" "9" "c.1707+9T>C" "r.(=)" "p.(=)" "" "0000250380" "00024144" "30" "278" "0" "278" "0" "c.278T>G" "r.(?)" "p.(Leu93Arg)" "" "0000250544" "00024144" "50" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Ile161Thr)" "" "0000250605" "00024144" "10" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Ser406Ala)" "" "0000250857" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000250873" "00024144" "10" "2355" "13" "2355" "13" "c.2355+13T>G" "r.(=)" "p.(=)" "" "0000252369" "00024144" "70" "2947" "0" "2947" "0" "c.2947T>C" "r.(?)" "p.(Cys983Arg)" "" "0000252396" "00024144" "70" "4118" "0" "4118" "0" "c.4118T>G" "r.(?)" "p.(Leu1373Arg)" "" "0000252405" "00024144" "70" "1646" "0" "1646" "0" "c.1646T>C" "r.(?)" "p.(Leu549Pro)" "" "0000252436" "00024144" "70" "2255" "0" "2255" "0" "c.2255T>G" "r.(?)" "p.(Val752Gly)" "" "0000252454" "00024144" "70" "-408" "0" "-408" "0" "c.-408T>C" "r.(?)" "p.(=)" "" "0000252550" "00024144" "90" "2966" "0" "2966" "0" "c.2966T>G" "r.(?)" "p.(Leu989Arg)" "" "0000252715" "00024144" "50" "4103" "0" "4103" "0" "c.4103T>C" "r.(?)" "p.(Leu1368Pro)" "" "0000252813" "00024144" "50" "4124" "6" "4124" "6" "c.4124+6T>C" "r.(=)" "p.(=)" "" "0000252957" "00024144" "10" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Ser406Ala)" "" "0000256608" "00024144" "50" "1121" "0" "1121" "0" "c.1121T>G" "r.(?)" "p.(Val374Gly)" "" "0000258465" "00024144" "10" "1366" "0" "1366" "0" "c.1366G>C" "r.(?)" "p.(Val456Leu)" "" "0000258466" "00024144" "10" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Arg725=)" "" "0000258467" "00024144" "10" "2495" "0" "2495" "0" "c.2495A>G" "r.(?)" "p.(Lys832Arg)" "" "0000258468" "00024144" "10" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Lys)" "" "0000258469" "00024144" "10" "2866" "-13" "2866" "-13" "c.2866-13G>C" "r.(=)" "p.(=)" "" "0000258470" "00024144" "10" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(Thr991=)" "" "0000258471" "00024144" "10" "3009" "0" "3009" "0" "c.3009G>A" "r.(?)" "p.(Ala1003=)" "" "0000258472" "00024144" "10" "3015" "0" "3015" "0" "c.3015C>T" "r.(?)" "p.(Asn1005=)" "" "0000258473" "00024144" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "0000258474" "00024144" "10" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(His1034Arg)" "" "0000258475" "00024144" "10" "3366" "0" "3366" "0" "c.3366A>G" "r.(?)" "p.(Ala1122=)" "" "0000258476" "00024144" "10" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000258477" "00024144" "10" "3903" "6" "3903" "6" "c.3903+6C>T" "r.(=)" "p.(=)" "" "0000258478" "00024144" "10" "4302" "0" "4302" "0" "c.4302G>A" "r.(?)" "p.(Thr1434=)" "" "0000258808" "00024144" "10" "1366" "0" "1366" "0" "c.1366G>C" "r.(?)" "p.(Val456Leu)" "" "0000258809" "00024144" "10" "2495" "0" "2495" "0" "c.2495A>G" "r.(?)" "p.(Lys832Arg)" "" "0000258810" "00024144" "10" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Lys)" "" "0000258811" "00024144" "10" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000258812" "00024144" "10" "3903" "6" "3903" "6" "c.3903+6C>T" "r.(=)" "p.(=)" "" "0000259557" "00024144" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Val426=)" "" "0000259558" "00024144" "30" "29" "0" "29" "0" "c.29C>T" "r.(?)" "p.(Ala10Val)" "" "0000259559" "00024144" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Leu109=)" "" "0000259560" "00024144" "30" "3557" "-16" "3557" "-16" "c.3557-16G>A" "r.(=)" "p.(=)" "" "0000259561" "00024144" "30" "4311" "0" "4311" "0" "c.4311G>A" "r.(?)" "p.(Lys1437=)" "" "0000259562" "00024144" "30" "445" "0" "445" "0" "c.445G>A" "r.(?)" "p.(Val149Met)" "" "0000259700" "00024144" "50" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Ser382Cys)" "" "0000259701" "00024144" "50" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Gly848=)" "" "0000259702" "00024144" "50" "3583" "0" "3583" "0" "c.3583G>A" "r.(?)" "p.(Ala1195Thr)" "" "0000259703" "00024144" "50" "3688" "0" "3688" "0" "c.3688A>G" "r.(?)" "p.(Ile1230Val)" "" "0000259704" "00024144" "50" "511" "0" "511" "0" "c.511G>T" "r.(?)" "p.(Val171Leu)" "" "0000259785" "00024144" "90" "2304" "0" "2304" "0" "c.2304dup" "r.(?)" "p.(Met769HisfsTer26)" "" "0000259786" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000260255" "00024144" "10" "1366" "0" "1366" "0" "c.1366G>C" "r.(?)" "p.(Val456Leu)" "" "0000260256" "00024144" "30" "1543" "13" "1543" "13" "c.1543+13C>T" "r.(=)" "p.(=)" "" "0000260257" "00024144" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Leu540=)" "" "0000260258" "00024144" "50" "1727" "0" "1727" "0" "c.1727C>T" "r.(?)" "p.(Ala576Val)" "" "0000260259" "00024144" "10" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Arg725=)" "" "0000260261" "00024144" "10" "2495" "0" "2495" "0" "c.2495A>G" "r.(?)" "p.(Lys832Arg)" "" "0000260262" "00024144" "10" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Lys)" "" "0000260263" "00024144" "10" "2866" "-13" "2866" "-13" "c.2866-13G>C" "r.(=)" "p.(=)" "" "0000260264" "00024144" "30" "2957" "0" "2957" "0" "c.2957C>T" "r.(?)" "p.(Ser986Phe)" "" "0000260265" "00024144" "10" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(Thr991=)" "" "0000260266" "00024144" "10" "3009" "0" "3009" "0" "c.3009G>A" "r.(?)" "p.(Ala1003=)" "" "0000260267" "00024144" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "0000260268" "00024144" "30" "3324" "0" "3324" "0" "c.3324C>T" "r.(?)" "p.(Asn1108=)" "" "0000260269" "00024144" "30" "3332" "0" "3332" "0" "c.3332G>A" "r.(?)" "p.(Gly1111Asp)" "" "0000260270" "00024144" "30" "3366" "0" "3366" "0" "c.3366A>G" "r.(?)" "p.(Ala1122=)" "" "0000260271" "00024144" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Pro1123Leu)" "" "0000260272" "00024144" "30" "3402" "0" "3402" "0" "c.3402C>T" "r.(?)" "p.(Pro1134=)" "" "0000260273" "00024144" "10" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000260275" "00024144" "10" "3903" "6" "3903" "6" "c.3903+6C>T" "r.(=)" "p.(=)" "" "0000260276" "00024144" "30" "4302" "0" "4302" "0" "c.4302G>A" "r.(?)" "p.(Thr1434=)" "" "0000260277" "00024144" "10" "4311" "0" "4311" "0" "c.4311G>A" "r.(?)" "p.(Lys1437=)" "" "0000261218" "00024144" "10" "-75" "0" "-75" "0" "c.-75C>A" "r.(?)" "p.(=)" "" "0000261219" "00024144" "30" "4414" "0" "4414" "0" "c.*16G>A" "r.(=)" "p.(=)" "" "0000261220" "00024144" "90" "1285" "5" "1285" "5" "c.1285+5G>T" "r.spl?" "p.?" "" "0000261221" "00024144" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Leu540=)" "" "0000261222" "00024144" "50" "1699" "0" "1699" "0" "c.1699G>T" "r.(?)" "p.(Glu567Ter)" "" "0000261223" "00024144" "30" "1707" "102" "1707" "102" "c.1707+102C>T" "r.(=)" "p.(=)" "" "0000261224" "00024144" "50" "1707" "17" "1707" "17" "c.1707+17C>A" "r.(=)" "p.(=)" "" "0000261225" "00024144" "50" "1707" "17" "1707" "17" "c.1707+17C>T" "r.(=)" "p.(=)" "" "0000261226" "00024144" "90" "1707" "1" "1707" "1" "c.1707+1G>A" "r.spl?" "p.?" "" "0000261227" "00024144" "50" "1870" "-2" "1870" "-2" "c.1870-2A>G" "r.spl?" "p.?" "" "0000261228" "00024144" "90" "2121" "1" "2121" "1" "c.2121+1G>T" "r.spl?" "p.?" "" "0000261229" "00024144" "70" "2145" "0" "2145" "0" "c.2145C>T" "r.(?)" "p.(Tyr715=)" "" "0000261230" "00024144" "10" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Arg725=)" "" "0000261231" "00024144" "50" "2292" "0" "2292" "0" "c.2292C>T" "r.(?)" "p.(Phe764=)" "" "0000261232" "00024144" "90" "2297" "0" "2297" "0" "c.2297C>T" "r.(?)" "p.(Thr766Met)" "" "0000261233" "00024144" "90" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000261234" "00024144" "50" "2310" "0" "2310" "0" "c.2310C>G" "r.(?)" "p.(Leu770=)" "" "0000261235" "00024144" "70" "2332" "0" "2332" "0" "c.2332C>T" "r.(?)" "p.(Arg778Trp)" "" "0000261236" "00024144" "50" "2333" "0" "2333" "0" "c.2333G>T" "r.(?)" "p.(Arg778Leu)" "" "0000261237" "00024144" "90" "2336" "0" "2336" "0" "c.2336G>A" "r.(?)" "p.(Trp779Ter)" "" "0000261238" "00024144" "90" "2356" "-1" "2356" "-1" "c.2356-1G>C" "r.spl?" "p.?" "" "0000261239" "00024144" "90" "2363" "0" "2363" "0" "c.2363C>T" "r.(?)" "p.(Thr788Ile)" "" "0000261240" "00024144" "50" "2413" "0" "2413" "0" "c.2413G>A" "r.(?)" "p.(Val805Ile)" "" "0000261241" "00024144" "30" "2484" "0" "2484" "0" "c.2484C>T" "r.(?)" "p.(Gly828=)" "" "0000261242" "00024144" "70" "2507" "0" "2507" "0" "c.2507G>A" "r.(?)" "p.(Gly836Glu)" "" "0000261243" "00024144" "50" "2514" "0" "2514" "0" "c.2514G>T" "r.(?)" "p.(Lys838Asn)" "" "0000261244" "00024144" "50" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Gly848=)" "" "0000261246" "00024144" "90" "2605" "0" "2605" "0" "c.2605G>T" "r.(?)" "p.(Gly869Ter)" "" "0000261247" "00024144" "90" "2621" "0" "2621" "0" "c.2621C>T" "r.(?)" "p.(Ala874Val)" "" "0000261248" "00024144" "90" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Arg919Trp)" "" "0000261249" "00024144" "70" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "" "0000261250" "00024144" "70" "2906" "0" "2906" "0" "c.2906G>A" "r.(?)" "p.(Arg969Gln)" "" "0000261251" "00024144" "10" "2973" "0" "2973" "0" "c.2973G>A" "r.(?)" "p.(Thr991=)" "" "0000261252" "00024144" "70" "3007" "0" "3007" "0" "c.3007G>A" "r.(?)" "p.(Ala1003Thr)" "" "0000261253" "00024144" "10" "3009" "0" "3009" "0" "c.3009G>A" "r.(?)" "p.(Ala1003=)" "" "0000261254" "00024144" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "0000261255" "00024144" "90" "3061" "-1" "3061" "-1" "c.3061-1G>A" "r.spl?" "p.?" "" "0000261256" "00024144" "90" "3061" "-2" "3061" "-2" "c.3061-2A>G" "r.spl?" "p.?" "" "0000261257" "00024144" "70" "3080" "0" "3080" "0" "c.3080A>G" "r.(?)" "p.(Asp1027Gly)" "" "0000261258" "00024144" "90" "3098" "0" "3098" "0" "c.3098C>T" "r.(?)" "p.(Thr1033Ile)" "" "0000261259" "00024144" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0000261260" "00024144" "90" "3190" "0" "3190" "0" "c.3190G>A" "r.(?)" "p.(Glu1064Lys)" "" "0000261261" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000261262" "00024144" "50" "3253" "0" "3253" "0" "c.3253A>C" "r.(?)" "p.(Thr1085Pro)" "" "0000261263" "00024144" "90" "3295" "0" "3295" "0" "c.3295G>A" "r.(?)" "p.(Gly1099Ser)" "" "0000261264" "00024144" "70" "3436" "0" "3436" "0" "c.3436G>A" "r.(?)" "p.(Val1146Met)" "" "0000261265" "00024144" "70" "3451" "0" "3451" "0" "c.3451C>T" "r.(?)" "p.(Arg1151Cys)" "" "0000261266" "00024144" "50" "3555" "0" "3555" "0" "c.3555C>T" "r.(?)" "p.(Asp1185=)" "" "0000261267" "00024144" "70" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Thr1220Met)" "" "0000261268" "00024144" "90" "3694" "0" "3694" "0" "c.3694A>C" "r.(?)" "p.(Thr1232Pro)" "" "0000261269" "00024144" "90" "3784" "0" "3784" "0" "c.3784G>T" "r.(?)" "p.(Val1262Phe)" "" "0000261270" "00024144" "70" "3796" "0" "3796" "0" "c.3796G>A" "r.(?)" "p.(Gly1266Arg)" "" "0000261272" "00024144" "70" "3965" "0" "3965" "0" "c.3965G>C" "r.(?)" "p.(Arg1322Pro)" "" "0000261273" "00024144" "70" "3979" "0" "3979" "0" "c.3979C>G" "r.(?)" "p.(Leu1327Val)" "" "0000261274" "00024144" "90" "4088" "0" "4088" "0" "c.4088C>A" "r.(?)" "p.(Ser1363Tyr)" "" "0000261276" "00024144" "90" "4125" "-1" "4125" "-1" "c.4125-1G>T" "r.spl?" "p.?" "" "0000261277" "00024144" "90" "4125" "-2" "4125" "-2" "c.4125-2A>G" "r.spl?" "p.?" "" "0000261278" "00024144" "10" "4125" "-49" "4125" "-49" "c.4125-49del" "r.(=)" "p.(=)" "" "0000261279" "00024144" "50" "459" "0" "459" "0" "c.459C>T" "r.(?)" "p.(Thr153=)" "" "0000261280" "00024144" "90" "51" "4" "51" "4" "c.51+4A>T" "r.spl?" "p.?" "" "0000261281" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "" "0000263360" "00024144" "10" "-75" "0" "-75" "0" "c.-75C>A" "r.(?)" "p.(=)" "" "0000263361" "00024144" "50" "1145" "0" "1145" "0" "c.1145C>G" "r.(?)" "p.(Ser382Cys)" "" "0000263362" "00024144" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Val426=)" "" "0000263363" "00024144" "10" "1366" "0" "1366" "0" "c.1366G>C" "r.(?)" "p.(Val456Leu)" "" "0000263364" "00024144" "30" "1620" "0" "1620" "0" "c.1620C>T" "r.(?)" "p.(Leu540=)" "" "0000263365" "00024144" "10" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Ala576=)" "" "0000263366" "00024144" "30" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(Arg725=)" "" "0000263367" "00024144" "50" "2188" "0" "2188" "0" "c.2188G>A" "r.(?)" "p.(Asp730Asn)" "" "0000263368" "00024144" "50" "2191" "0" "2191" "0" "c.2191G>A" "r.(?)" "p.(Val731Met)" "" "0000263369" "00024144" "30" "2583" "0" "2583" "0" "c.2583C>T" "r.(?)" "p.(Ala861=)" "" "0000263370" "00024144" "30" "2955" "0" "2955" "0" "c.2955C>T" "r.(?)" "p.(Cys985=)" "" "0000263371" "00024144" "30" "325" "0" "325" "0" "c.325C>T" "r.(?)" "p.(Leu109=)" "" "0000263372" "00024144" "90" "3402" "0" "3402" "0" "c.3402del" "r.(?)" "p.(Ala1135GlnfsTer13)" "" "0000263373" "00024144" "30" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000263374" "00024144" "30" "4338" "0" "4338" "0" "c.4338C>G" "r.(?)" "p.(Asp1446Glu)" "" "0000263375" "00024144" "30" "4386" "0" "4386" "0" "c.4386G>A" "r.(?)" "p.(Glu1462=)" "" "0000323414" "00024144" "50" "4319" "0" "4319" "0" "c.4319G>A" "r.(?)" "p.(Arg1440Gln)" "" "0000323415" "00024144" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000323416" "00024144" "70" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Pro1379Ser)" "" "0000323418" "00024144" "50" "2606" "0" "2606" "0" "c.2606G>A" "r.(?)" "p.(Gly869Glu)" "" "0000323419" "00024144" "50" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "" "0000323420" "00024144" "50" "2572" "0" "2572" "0" "c.2572A>G" "r.(?)" "p.(Thr858Ala)" "" "0000323421" "00024144" "50" "1099" "0" "1099" "0" "c.1099G>A" "r.(?)" "p.(Gly367Ser)" "" "0000341879" "00024144" "50" "406" "0" "406" "0" "c.406A>G" "r.(?)" "p.(Arg136Gly)" "" "0000343509" "00024144" "10" "2855" "0" "2855" "0" "c.2855G>A" "r.(?)" "p.(Arg952Lys)" "" "0000438427" "00024144" "30" "19" "0" "20" "0" "c.19_20del" "r.19_20del" "p.(Pro2_Met33del)" "" "0000438440" "00024144" "30" "19" "0" "20" "0" "c.19_20del" "r.(?)" "p.(Pro2_Met33del)" "" "0000439709" "00024144" "70" "1252" "0" "1252" "0" "c.1252G>T" "r.(?)" "p.(Glu418*)" "" "0000439710" "00024144" "70" "1774" "0" "1774" "0" "c.1774A>T" "r.(?)" "p.(Ile592Phe)" "" "0000439711" "00024144" "70" "1910" "0" "1910" "0" "c.1910del" "r.(?)" "p.(Asn637Thrfs*11)" "" "0000439712" "00024144" "70" "2004" "0" "2004" "0" "c.2004G>C" "r.(?)" "p.(Met668Ile)" "" "0000439713" "00024144" "70" "2075" "0" "2075" "0" "c.2075T>C" "r.(?)" "p.(Leu692Pro)" "" "0000439714" "00024144" "70" "2097" "0" "2099" "0" "c.2097_2099del" "r.(?)" "p.(Phe700del)" "" "0000439715" "00024144" "70" "2304" "0" "2304" "0" "c.2304dup" "r.(?)" "p.(Met769Hisfs*26)" "" "0000439716" "00024144" "70" "2730" "0" "2730" "0" "c.2730G>T" "r.(?)" "p.(Lys910Asn)" "" "0000439717" "00024144" "70" "2790" "0" "2792" "0" "c.2790_2792del" "r.(?)" "p.(Ile930del)" "" "0000439718" "00024144" "70" "3689" "0" "3689" "0" "c.3689T>C" "r.(?)" "p.(Ile1230Thr)" "" "0000439719" "00024144" "70" "3704" "0" "3704" "0" "c.3704G>A" "r.(?)" "p.(Gly1235Asp)" "" "0000439720" "00024144" "70" "3869" "0" "3870" "0" "c.3869_3870del" "r.(?)" "p.(Val1290Glyfs*13)" "" "0000439721" "00024144" "70" "4005" "0" "4006" "0" "c.4005_4006insTTATAATGGGTTGCG" "r.(?)" "p.(Ile1336_Ile1465delinsLeu)" "" "0000439722" "00024144" "70" "4069" "0" "4069" "0" "c.4069G>A" "r.(?)" "p.(Ala1357Thr)" "" "0000550914" "00024144" "10" "4311" "0" "4311" "0" "c.4311G>A" "r.(?)" "p.(Lys1437=)" "" "0000550915" "00024144" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000550916" "00024144" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000550917" "00024144" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000550918" "00024144" "30" "4301" "0" "4301" "0" "c.4301C>T" "r.(?)" "p.(Thr1434Met)" "" "0000550920" "00024144" "50" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Pro1379Ser)" "" "0000550921" "00024144" "50" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Pro1379Ser)" "" "0000550922" "00024144" "50" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Pro1379Ser)" "" "0000550923" "00024144" "50" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Pro1379Ser)" "" "0000550924" "00024144" "50" "4101" "0" "4102" "0" "c.4101_4102insAGTC" "r.(?)" "p.(Leu1368SerfsTer11)" "" "0000550925" "00024144" "10" "3903" "6" "3903" "6" "c.3903+6C>T" "r.(=)" "p.(=)" "" "0000550926" "00024144" "10" "3891" "0" "3891" "0" "c.3891C>T" "r.(?)" "p.(Val1297=)" "" "0000550927" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "" "0000550928" "00024144" "90" "3741" "0" "3742" "0" "c.3741_3742dup" "r.(?)" "p.(Lys1248ThrfsTer83)" "" "0000550929" "00024144" "50" "3671" "0" "3671" "0" "c.3671G>T" "r.(?)" "p.(Arg1224Leu)" "" "0000550930" "00024144" "10" "3588" "0" "3588" "0" "c.3588C>T" "r.(?)" "p.(Asp1196=)" "" "0000550931" "00024144" "10" "3588" "0" "3588" "0" "c.3588C>T" "r.(?)" "p.(Asp1196=)" "" "0000550932" "00024144" "30" "3588" "0" "3588" "0" "c.3588C>T" "r.(?)" "p.(Asp1196=)" "" "0000550933" "00024144" "30" "3557" "-6" "3557" "-6" "c.3557-6C>T" "r.(=)" "p.(=)" "" "0000550934" "00024144" "30" "3557" "-6" "3557" "-6" "c.3557-6C>T" "r.(=)" "p.(=)" "" "0000550935" "00024144" "30" "3557" "-6" "3557" "-6" "c.3557-6C>T" "r.(=)" "p.(=)" "" "0000550936" "00024144" "10" "3557" "-6" "3557" "-6" "c.3557-6C>T" "r.(=)" "p.(=)" "" "0000550937" "00024144" "30" "3557" "-8" "3557" "-8" "c.3557-8C>G" "r.(=)" "p.(=)" "" "0000550938" "00024144" "30" "3471" "0" "3471" "0" "c.3471C>T" "r.(?)" "p.(Asn1157=)" "" "0000550939" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000550940" "00024144" "30" "3416" "0" "3416" "0" "c.3416C>G" "r.(?)" "p.(Ala1139Gly)" "" "0000550941" "00024144" "30" "3416" "0" "3416" "0" "c.3416C>G" "r.(?)" "p.(Ala1139Gly)" "" "0000550942" "00024144" "10" "3403" "0" "3403" "0" "c.3403G>A" "r.(?)" "p.(Ala1135Thr)" "" "0000550943" "00024144" "90" "3402" "0" "3402" "0" "c.3402del" "r.(?)" "p.(Ala1135GlnfsTer13)" "" "0000550944" "00024144" "10" "3369" "0" "3369" "0" "c.3369G>A" "r.(?)" "p.(Pro1123=)" "" "0000550945" "00024144" "30" "3243" "16" "3243" "16" "c.3243+16C>T" "r.(=)" "p.(=)" "" "0000550946" "00024144" "50" "3236" "0" "3236" "0" "c.3236G>C" "r.(?)" "p.(Cys1079Ser)" "" "0000550947" "00024144" "30" "3216" "0" "3216" "0" "c.3216C>T" "r.(?)" "p.(Gly1072=)" "" "0000550948" "00024144" "50" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000550949" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000550950" "00024144" "90" "3191" "0" "3191" "0" "c.3191A>C" "r.(?)" "p.(Glu1064Ala)" "" "0000550951" "00024144" "30" "3123" "0" "3123" "0" "c.3123G>C" "r.(?)" "p.(Arg1041=)" "" "0000550952" "00024144" "30" "3069" "0" "3069" "0" "c.3069T>C" "r.(?)" "p.(Thr1023=)" "" "0000550953" "00024144" "30" "3060" "16" "3060" "16" "c.3060+16G>T" "r.(=)" "p.(=)" "" "0000550954" "00024144" "70" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(Lys1020=)" "" "0000550955" "00024144" "50" "3060" "0" "3060" "0" "c.3060G>A" "r.(?)" "p.(Lys1020=)" "" "0000550957" "00024144" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "0000550958" "00024144" "30" "3043" "0" "3043" "0" "c.3043C>T" "r.(?)" "p.(Leu1015=)" "" "0000550959" "00024144" "50" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Thr991Met)" "" "0000550960" "00024144" "50" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Thr991Met)" "" "0000550961" "00024144" "50" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Thr991Met)" "" "0000550962" "00024144" "50" "2972" "0" "2972" "0" "c.2972C>T" "r.(?)" "p.(Thr991Met)" "" "0000550964" "00024144" "90" "2865" "1" "2865" "1" "c.2865+1G>A" "r.spl?" "p.?" "" "0000550965" "00024144" "50" "2865" "1" "2865" "1" "c.2865+1G>A" "r.spl?" "p.?" "" "0000550966" "00024144" "10" "2805" "0" "2805" "0" "c.2805G>A" "r.(?)" "p.(Thr935=)" "" "0000550967" "00024144" "50" "2755" "0" "2755" "0" "c.2755C>T" "r.(?)" "p.(Arg919Trp)" "" "0000550968" "00024144" "50" "2715" "0" "2715" "0" "c.2715G>C" "r.(?)" "p.(Glu905Asp)" "" "0000550969" "00024144" "50" "2605" "0" "2605" "0" "c.2605G>A" "r.(?)" "p.(Gly869Arg)" "" "0000550970" "00024144" "50" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Gly848=)" "" "0000550971" "00024144" "10" "2495" "0" "2495" "0" "c.2495A>G" "r.(?)" "p.(Lys832Arg)" "" "0000550972" "00024144" "10" "2484" "0" "2484" "0" "c.2484C>T" "r.(?)" "p.(Gly828=)" "" "0000550973" "00024144" "30" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(Pro821=)" "" "0000550974" "00024144" "30" "2436" "0" "2436" "0" "c.2436T>C" "r.(?)" "p.(Asn812=)" "" "0000550975" "00024144" "90" "2304" "0" "2304" "0" "c.2304dup" "r.(?)" "p.(Met769HisfsTer26)" "" "0000550976" "00024144" "70" "2123" "0" "2123" "0" "c.2123T>C" "r.(?)" "p.(Leu708Pro)" "" "0000550978" "00024144" "30" "1995" "0" "1995" "0" "c.1995G>A" "r.(?)" "p.(Met665Ile)" "" "0000550979" "00024144" "50" "1995" "0" "1995" "0" "c.1995G>A" "r.(?)" "p.(Met665Ile)" "" "0000550980" "00024144" "30" "1993" "0" "1993" "0" "c.1993A>G" "r.(?)" "p.(Met665Val)" "" "0000550981" "00024144" "50" "1993" "0" "1993" "0" "c.1993A>G" "r.(?)" "p.(Met665Val)" "" "0000550982" "00024144" "30" "1965" "0" "1965" "0" "c.1965G>A" "r.(?)" "p.(Leu655=)" "" "0000550985" "00024144" "30" "1883" "0" "1883" "0" "c.1883A>G" "r.(?)" "p.(His628Arg)" "" "0000550986" "00024144" "70" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616Gln)" "" "0000550987" "00024144" "30" "1728" "0" "1728" "0" "c.1728G>A" "r.(?)" "p.(Ala576=)" "" "0000550989" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl?" "p.?" "" "0000550990" "00024144" "30" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Val536Ala)" "" "0000550991" "00024144" "30" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Val536Ala)" "" "0000550992" "00024144" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Val519Met)" "" "0000550993" "00024144" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Val519Met)" "" "0000550994" "00024144" "30" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Val519Met)" "" "0000550995" "00024144" "30" "1544" "-12" "1544" "-12" "c.1544-12T>C" "r.(=)" "p.(=)" "" "0000550996" "00024144" "10" "1366" "0" "1366" "0" "c.1366G>C" "r.(?)" "p.(Val456Leu)" "" "0000550997" "00024144" "30" "1291" "0" "1291" "0" "c.1291T>C" "r.(?)" "p.(Cys431Arg)" "" "0000550999" "00024144" "70" "1285" "5" "1285" "5" "c.1285+5G>T" "r.spl?" "p.?" "" "0000551000" "00024144" "10" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Val426=)" "" "0000551001" "00024144" "30" "1230" "0" "1230" "0" "c.1230A>G" "r.(?)" "p.(Pro410=)" "" "0000551002" "00024144" "30" "1230" "0" "1230" "0" "c.1230A>G" "r.(?)" "p.(Pro410=)" "" "0000551003" "00024144" "10" "1216" "0" "1216" "0" "c.1216T>G" "r.(?)" "p.(Ser406Ala)" "" "0000551004" "00024144" "30" "1153" "0" "1153" "0" "c.1153G>A" "r.(?)" "p.(Glu385Lys)" "" "0000551005" "00024144" "10" "1122" "0" "1122" "0" "c.1122C>G" "r.(?)" "p.(Val374=)" "" "0000551006" "00024144" "50" "1122" "0" "1122" "0" "c.1122C>G" "r.(?)" "p.(Val374=)" "" "0000551007" "00024144" "30" "1049" "0" "1049" "0" "c.1049C>T" "r.(?)" "p.(Pro350Leu)" "" "0000551009" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "" "0000551010" "00024144" "30" "677" "0" "677" "0" "c.677G>A" "r.(?)" "p.(Arg226Gln)" "" "0000551011" "00024144" "30" "550" "0" "550" "0" "c.550G>A" "r.(?)" "p.(Val184Ile)" "" "0000551012" "00024144" "30" "437" "0" "437" "0" "c.437A>G" "r.(?)" "p.(Lys146Arg)" "" "0000551013" "00024144" "90" "19" "0" "20" "0" "c.19_20del" "r.(?)" "p.(Gln7AspfsTer14)" "" "0000551014" "00024144" "10" "-75" "0" "-75" "0" "c.-75C>A" "r.(?)" "p.(=)" "" "0000551015" "00024144" "30" "-1107" "0" "-1107" "0" "c.-1107C>G" "r.(?)" "p.(=)" "" "0000614664" "00024144" "90" "4092" "0" "4093" "0" "c.4092_4093del" "r.(?)" "p.(Ser1365CysfsTer12)" "" "0000614665" "00024144" "90" "3796" "0" "3796" "0" "c.3796G>A" "r.(?)" "p.(Gly1266Arg)" "" "0000614666" "00024144" "50" "3790" "0" "3790" "0" "c.3790A>G" "r.(?)" "p.(Met1264Val)" "" "0000614669" "00024144" "70" "2975" "0" "2975" "0" "c.2975C>T" "r.(?)" "p.(Pro992Leu)" "" "0000614670" "00024144" "30" "2865" "13" "2865" "13" "c.2865+13C>A" "r.(=)" "p.(=)" "" "0000614671" "00024144" "50" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Arg827Trp)" "" "0000614672" "00024144" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Val426=)" "" "0000614673" "00024144" "30" "226" "0" "226" "0" "c.226A>G" "r.(?)" "p.(Ile76Val)" "" "0000623072" "00024144" "90" "2865" "1" "2865" "1" "c.2865+1G>A" "r.spl?" "p.?" "" "0000623073" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl?" "p.?" "" "0000623074" "00024144" "30" "92" "0" "92" "0" "c.92C>T" "r.(?)" "p.(Pro31Leu)" "" "0000629181" "00024144" "90" "2333" "0" "2333" "0" "c.2333G>T" "r.(?)" "p.(Arg778Leu)" "8" "0000629185" "00024144" "90" "2810" "0" "2810" "0" "c.2810del" "r.(?)" "p.(Val937Glyfs*5)" "12" "0000648799" "00024144" "50" "4213" "0" "4213" "0" "c.4213G>A" "r.(?)" "p.(Gly1405Ser)" "" "0000648800" "00024144" "70" "4039" "0" "4039" "0" "c.4039G>A" "r.(?)" "p.(Gly1347Ser)" "" "0000648801" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "" "0000648802" "00024144" "70" "3659" "0" "3659" "0" "c.3659C>T" "r.(?)" "p.(Thr1220Met)" "" "0000648803" "00024144" "30" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000648804" "00024144" "30" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "0000648805" "00024144" "90" "2930" "0" "2930" "0" "c.2930C>T" "r.(?)" "p.(Thr977Met)" "" "0000648806" "00024144" "70" "2071" "0" "2071" "0" "c.2071G>A" "r.(?)" "p.(Gly691Arg)" "" "0000648807" "00024144" "50" "1969" "0" "1969" "0" "c.1969A>C" "r.(?)" "p.(Ser657Arg)" "" "0000648808" "00024144" "50" "1877" "0" "1877" "0" "c.1877G>C" "r.(?)" "p.(Gly626Ala)" "" "0000648809" "00024144" "70" "865" "0" "865" "0" "c.865C>T" "r.(?)" "p.(Gln289Ter)" "" "0000653120" "00024144" "50" "3526" "0" "3526" "0" "c.3526G>A" "r.(?)" "p.(Gly1176Arg)" "" "0000657312" "00024144" "30" "2447" "17" "2447" "17" "c.2447+17A>G" "r.(=)" "p.(=)" "" "0000657313" "00024144" "70" "1847" "0" "1847" "0" "c.1847G>A" "r.(?)" "p.(Arg616Gln)" "" "0000657314" "00024144" "30" "662" "0" "662" "0" "c.662C>A" "r.(?)" "p.(Pro221Gln)" "" "0000669228" "00024144" "30" "3620" "0" "3620" "0" "c.3620A>G" "r.(?)" "p.(His1207Arg)" "" "0000679830" "00024144" "50" "3529" "0" "3529" "0" "c.3529C>T" "r.(?)" "p.(Gln1177Ter)" "" "0000679831" "00024144" "30" "3498" "0" "3498" "0" "c.3498T>C" "r.(?)" "p.(Ser1166=)" "" "0000679832" "00024144" "50" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "" "0000679833" "00024144" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Ala560Thr)" "" "0000679834" "00024144" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Val519Met)" "" "0000679835" "00024144" "70" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Asn41Ser)" "" "0000682983" "00024144" "70" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000682984" "00024144" "70" "3007" "0" "3007" "0" "c.3007G>A" "r.(?)" "p.(Ala1003Thr)" "" "0000682985" "00024144" "70" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000682994" "00024144" "50" "3671" "0" "3671" "0" "c.3671G>T" "r.(?)" "p.(Arg1224Leu)" "" "0000682995" "00024144" "50" "2175" "0" "2175" "0" "c.2175G>A" "r.(?)" "p.(=)" "" "0000683004" "00024144" "70" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(Glu297Gly)" "" "0000683006" "00024144" "50" "4414" "0" "4414" "0" "c.*16G>A" "r.(?)" "p.(Pro887Leu)" "" "0000683007" "00024144" "50" "2355" "13" "2355" "13" "c.2355+13T>G" "r.spl?" "p.?" "" "0000684789" "00024144" "30" "3889" "0" "3889" "0" "c.3889G>A" "r.(?)" "p.(Val1297Ile)" "" "0000724559" "00024144" "30" "4391" "0" "4391" "0" "c.4391A>C" "r.(?)" "p.(Tyr1464Ser)" "" "0000724560" "00024144" "50" "4163" "0" "4163" "0" "c.4163C>T" "r.(?)" "p.(Ala1388Val)" "" "0000724561" "00024144" "50" "4039" "0" "4039" "0" "c.4039G>A" "r.(?)" "p.(Gly1347Ser)" "" "0000724562" "00024144" "70" "4021" "0" "4021" "0" "c.4021G>A" "r.(?)" "p.(Gly1341Ser)" "" "0000724563" "00024144" "30" "3891" "0" "3891" "0" "c.3891C>T" "r.(?)" "p.(Val1297=)" "" "0000724564" "00024144" "30" "3069" "0" "3069" "0" "c.3069T>C" "r.(?)" "p.(Thr1023=)" "" "0000724565" "00024144" "30" "2955" "0" "2955" "0" "c.2955C>T" "r.(?)" "p.(Cys985=)" "" "0000724566" "00024144" "30" "2463" "0" "2463" "0" "c.2463C>T" "r.(?)" "p.(Pro821=)" "" "0000724567" "00024144" "50" "1995" "0" "1995" "0" "c.1995G>A" "r.(?)" "p.(Met665Ile)" "" "0000724568" "00024144" "50" "1285" "5" "1285" "5" "c.1285+5G>T" "r.spl?" "p.?" "" "0000724569" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "" "0000724570" "00024144" "30" "98" "0" "98" "0" "c.98T>C" "r.(?)" "p.(Met33Thr)" "" "0000736237" "00024144" "90" "2966" "0" "2966" "0" "c.2966T>G" "r.(?)" "p.(Leu989Arg)" "" "0000787518" "00024144" "70" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "" "0000806198" "00024144" "50" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Pro1379Ser)" "" "0000806199" "00024144" "50" "3914" "0" "3914" "0" "c.3914T>C" "r.(?)" "p.(Leu1305Pro)" "" "0000806200" "00024144" "30" "3786" "0" "3786" "0" "c.3786C>T" "r.(?)" "p.(Val1262=)" "" "0000806201" "00024144" "90" "3443" "0" "3443" "0" "c.3443T>C" "r.(?)" "p.(Ile1148Thr)" "" "0000806202" "00024144" "30" "3405" "0" "3405" "0" "c.3405A>G" "r.(?)" "p.(Ala1135=)" "" "0000806203" "00024144" "30" "3368" "0" "3368" "0" "c.3368C>T" "r.(?)" "p.(Pro1123Leu)" "" "0000806204" "00024144" "50" "1877" "0" "1877" "0" "c.1877G>C" "r.(?)" "p.(Gly626Ala)" "" "0000806205" "00024144" "30" "1830" "0" "1830" "0" "c.1830G>A" "r.(?)" "p.(Pro610=)" "" "0000806206" "00024144" "30" "1449" "0" "1449" "0" "c.1449A>G" "r.(?)" "p.(Arg483=)" "" "0000806207" "00024144" "30" "1278" "0" "1278" "0" "c.1278C>T" "r.(?)" "p.(Val426=)" "" "0000806208" "00024144" "50" "902" "0" "902" "0" "c.902A>G" "r.(?)" "p.(Tyr301Cys)" "" "0000841976" "00024144" "90" "3121" "0" "3121" "0" "c.3121C>T" "r.(?)" "p.(Arg1041Trp)" "" "0000841977" "00024144" "90" "0" "0" "0" "0" "c.615_*2087{0}" "r.?" "p.?" "2_21_" "0000853693" "00024144" "50" "3763" "0" "3763" "0" "c.3763C>T" "r.(?)" "p.(Leu1255Phe)" "" "0000853694" "00024144" "30" "3366" "0" "3366" "0" "c.3366A>G" "r.(?)" "p.(Ala1122=)" "" "0000853695" "00024144" "30" "3151" "0" "3151" "0" "c.3151C>T" "r.(?)" "p.(Leu1051=)" "" "0000853696" "00024144" "30" "1707" "9" "1707" "9" "c.1707+9T>C" "r.(=)" "p.(=)" "" "0000853697" "00024144" "90" "51" "4" "51" "4" "c.51+4A>T" "r.spl?" "p.?" "" "0000863398" "00024144" "50" "4021" "3" "4021" "3" "c.4021+3A>G" "r.spl?" "p.?" "" "0000863399" "00024144" "30" "3324" "0" "3324" "0" "c.3324C>T" "r.(?)" "p.(Asn1108=)" "" "0000863400" "00024144" "50" "3101" "0" "3101" "0" "c.3101A>G" "r.(?)" "p.(His1034Arg)" "" "0000863401" "00024144" "10" "3015" "0" "3015" "0" "c.3015C>T" "r.(?)" "p.(Asn1005=)" "" "0000873496" "00024144" "70" "2310" "0" "2310" "0" "c.2310C>G" "r.(?)" "p.(Leu770=)" "" "0000873497" "00024144" "70" "2333" "0" "2333" "0" "c.2333G>T" "r.(?)" "p.(Arg778Leu)" "" "0000873900" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000873911" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000873926" "00024144" "10" "3419" "0" "3419" "0" "c.3419T>C" "r.(?)" "p.(Val1140Ala)" "" "0000891559" "00024144" "10" "4311" "0" "4311" "0" "c.4311G>A" "r.(?)" "p.(Lys1437=)" "" "0000891560" "00024144" "10" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Val536Ala)" "" "0000906013" "00024144" "90" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "" "0000906014" "00024144" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Leu795Phe)" "" "0000906015" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000906087" "00024144" "90" "1934" "0" "1934" "0" "c.1934T>G" "r.(?)" "p.(Met645Arg)" "" "0000906145" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908608" "00024144" "70" "2537" "0" "2537" "0" "c.2537T>C" "r.(?)" "p.(Leu846Pro)" "" "0000908609" "00024144" "90" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000908610" "00024144" "70" "2596" "0" "2596" "0" "c.2596A>G" "r.(?)" "p.(Lys866Glu)" "" "0000908611" "00024144" "90" "3031" "0" "3031" "0" "c.3031G>T" "r.(?)" "p.(Gly1011*)" "" "0000908612" "00024144" "70" "3053" "0" "3053" "0" "c.3053C>T" "r.(?)" "p.(Ala1018Val)" "" "0000908613" "00024144" "70" "4042" "0" "4043" "0" "c.4042_4043del" "r.(?)" "p.(Ile1348Cysfs*29)" "" "0000908614" "00024144" "90" "3188" "0" "3188" "0" "c.3188C>T" "r.(?)" "p.(Ala1063Val)" "" "0000908615" "00024144" "90" "3188" "0" "3188" "0" "c.3188C>T" "r.(?)" "p.(Ala1063Val)" "" "0000908616" "00024144" "90" "3912" "0" "3912" "0" "c.3912G>T" "r.(?)" "p.(Leu1304Phe)" "" "0000908617" "00024144" "90" "2336" "0" "2336" "0" "c.2336G>A" "r.(?)" "p.(Trp779Ter)" "" "0000908618" "00024144" "90" "2222" "0" "2222" "0" "c.2222dup" "r.(?)" "p.(Tyr741Ter)" "" "0000908619" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908620" "00024144" "90" "915" "0" "915" "0" "c.915T>A" "r.(?)" "p.(Cys305Ter)" "" "0000908621" "00024144" "90" "2305" "0" "2305" "0" "c.2305A>G" "r.(?)" "p.(Met769Val)" "" "0000908622" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "" "0000908623" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908624" "00024144" "90" "3424" "0" "3424" "0" "c.3424C>T" "r.(?)" "p.(Gln1142Ter)" "" "0000908625" "00024144" "90" "2532" "0" "2532" "0" "c.2532del" "r.(?)" "p.(Val845SerfsTer28)" "" "0000908626" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "" "0000908627" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908628" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "" "0000908629" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "" "0000908630" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908631" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908632" "00024144" "90" "3890" "0" "3890" "0" "c.3890T>A" "r.(?)" "p.(Val1297Asp)" "" "0000908633" "00024144" "90" "3207" "0" "3207" "0" "c.3207C>A" "r.(?)" "p.(His1069Gln)" "" "0000908634" "00024144" "90" "4054" "0" "4054" "0" "c.4054C>T" "r.(?)" "p.(Gln1351Ter)" "" "0000908635" "00024144" "90" "2108" "0" "2108" "0" "c.2108G>A" "r.(?)" "p.(Cys703Tyr)" "" "0000909548" "00024144" "30" "1544" "-634" "1544" "-634" "c.1544-634G>A" "r.(?)" "p.(=)" "3i" "0000909549" "00024144" "70" "0" "0" "0" "0" "-" "r.(=|red)" "p.(=|red)" "_1" "0000909550" "00024144" "90" "0" "0" "0" "0" "-" "r.(=|red)" "p.(=|red)" "_1" "0000909551" "00024144" "90" "174" "0" "174" "0" "c.174dup" "r.(?)" "p.(Thr59HisfsTer19)" "2" "0000909552" "00024144" "90" "448" "0" "452" "0" "c.448_452del" "r.(?)" "p.(Glu150HisfsTer11)" "2" "0000909553" "00024144" "90" "448" "0" "452" "0" "c.448_452del" "r.(?)" "p.(Glu150HisfsTer11)" "2" "0000909554" "00024144" "90" "448" "0" "452" "0" "c.448_452del" "r.(?)" "p.(Glu150HisfsTer11)" "2" "0000909555" "00024144" "90" "448" "0" "452" "0" "c.448_452del" "r.(?)" "p.(Glu150HisfsTer11)" "2" "0000909556" "00024144" "90" "561" "0" "561" "0" "c.561T>A" "r.(?)" "p.(Tyr187Ter)" "2" "0000909557" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909558" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909559" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909560" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909561" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909562" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909563" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909564" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909565" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909566" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909567" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909568" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909569" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909570" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909571" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909572" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl" "p.?" "4i" "0000909573" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl" "p.?" "4i" "0000909574" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl" "p.?" "4i" "0000909575" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909576" "00024144" "90" "2366" "0" "2366" "0" "c.2366C>G" "r.(?)" "p.(Ser789Ter)" "9" "0000909577" "00024144" "90" "2513" "0" "2513" "0" "c.2513del" "r.(?)" "p.(Lys838SerfsTer35)" "10" "0000909578" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000909579" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000909580" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000909581" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000909582" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000909583" "00024144" "90" "3412" "1" "3412" "1" "c.3412+1G>A" "r.spl" "p.?" "15i" "0000909584" "00024144" "90" "4021" "1" "4021" "1" "c.4021+1G>T" "r.spl" "p.?" "19i" "0000909585" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909586" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909587" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909588" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909589" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909590" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909591" "00024144" "90" "3301" "0" "3301" "0" "c.3301G>A" "r.(?)" "p.(Gly1101Arg)" "15" "0000909592" "00024144" "90" "3301" "0" "3301" "0" "c.3301G>A" "r.(?)" "p.(Gly1101Arg)" "15" "0000909593" "00024144" "90" "3301" "0" "3301" "0" "c.3301G>A" "r.(?)" "p.(Gly1101Arg)" "15" "0000909594" "00024144" "90" "3305" "0" "3305" "0" "c.3305T>C" "r.(?)" "p.(Ile1102Thr)" "15" "0000909595" "00024144" "90" "3556" "0" "3556" "0" "c.3556G>C" "r.(?)" "p.(Gly1186Arg)" "16" "0000909596" "00024144" "90" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Ala1241Val)" "18" "0000909597" "00024144" "90" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Ala1241Val)" "18" "0000909598" "00024144" "90" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Ala1241Val)" "18" "0000909599" "00024144" "90" "3722" "0" "3722" "0" "c.3722C>T" "r.(?)" "p.(Ala1241Val)" "18" "0000909600" "00024144" "90" "3809" "0" "3809" "0" "c.3809A>G" "r.(?)" "p.(Asn1270Ser)" "18" "0000909601" "00024144" "50" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" "p.(Leu1299Phe)" "18" "0000909602" "00024144" "90" "4084" "0" "4084" "0" "c.4084T>G" "r.(?)" "p.(Ser1362Ala)" "20" "0000909603" "00024144" "90" "4088" "0" "4088" "0" "c.4088C>T" "r.(?)" "p.(Ser1363Phe)" "20" "0000909604" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909605" "00024144" "90" "448" "0" "452" "0" "c.448_452del" "r.(?)" "p.(Glu150HisfsTer11)" "2" "0000909606" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909607" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909608" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909609" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909610" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909611" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909612" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909613" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909614" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909615" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909616" "00024144" "90" "813" "0" "813" "0" "c.813C>A" "r.(?)" "p.(Cys271Ter)" "2" "0000909617" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000909618" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909619" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909620" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909621" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909622" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl" "p.?" "4i" "0000909623" "00024144" "90" "1708" "-1" "1708" "-1" "c.1708-1G>C" "r.spl" "p.?" "4i" "0000909624" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909625" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909626" "00024144" "90" "3182" "0" "3182" "0" "c.3182G>A" "r.(?)" "p.(Gly1061Glu)" "14" "0000909627" "00024144" "50" "3895" "0" "3895" "0" "c.3895C>T" "r.(?)" 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"p.(=)" "1" "0000909778" "00024144" "50" "" "0" "" "0" "-" "r.(=)" "p.(=)" "_1" "0000909779" "00024144" "70" "-123" "0" "-119" "0" "c.-123_-119dup" "r.(?)" "p.(=)" "1" "0000909780" "00024144" "70" "-75" "0" "-75" "0" "c.-75C>A" "r.(?)" "p.(=)" "1" "0000909781" "00024144" "70" "-75" "0" "-75" "0" "c.-75C>A" "r.(?)" "p.(=)" "1" "0000909782" "00024144" "70" "-75" "0" "-75" "0" "c.-75C>A" "r.(?)" "p.(=)" "1" "0000909783" "00024144" "90" "3147" "0" "3147" "0" "c.3147del" "r.(?)" "p.(Thr1050HisfsTer71)" "14" "0000914114" "00024144" "30" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Val536Ala)" "" "0000917596" "00024144" "90" "505" "0" "505" "0" "c.505C>T" "r.(?)" "p.(Gln169Ter)" "" "0000918169" "00024144" "70" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Gly1221Glu)" "" "0000925814" "00024144" "50" "4750" "0" "4750" "0" "c.*352C>G" "r.(=)" "p.(=)" "" "0000925815" "00024144" "70" "4125" "-1" "4125" "-1" "c.4125-1G>C" "r.spl?" "p.?" "" "0000925816" "00024144" "10" "3045" "0" "3045" "0" "c.3045G>A" "r.(?)" "p.(Leu1015=)" "" "0000925817" "00024144" "70" "122" "0" "122" "0" "c.122A>G" "r.(?)" "p.(Asn41Ser)" "" "0000950174" "00024144" "30" "3060" "16" "3060" "16" "c.3060+16G>T" "r.(=)" "p.(=)" "" "0000950175" "00024144" "70" "3059" "0" "3059" "0" "c.3059A>G" "r.(?)" "p.(Lys1020Arg)" "" "0000950176" "00024144" "50" "2575" "5" "2575" "5" "c.2575+5G>C" "r.spl?" "p.?" "" "0000950177" "00024144" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Leu795Phe)" "" "0000950178" "00024144" "90" "2304" "0" "2304" "0" "c.2304dup" "r.(?)" "p.(Met769HisfsTer26)" "" "0000950179" "00024144" "90" "254" "0" "254" "0" "c.254G>T" "r.(?)" "p.(Gly85Val)" "" "0000967341" "00024144" "90" "4092" "0" "4093" "0" "c.4092_4093del" "r.(?)" "p.(Ser1365CysfsTer12)" "" "0000967342" "00024144" "70" "3842" "0" "3842" "0" "c.3842G>T" "r.(?)" "p.(Gly1281Val)" "" "0000967343" "00024144" "70" "3275" "0" "3275" "0" "c.3275C>T" "r.(?)" "p.(Thr1092Met)" "" "0000967344" "00024144" "50" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Trp)" "" "0000972027" "00024144" "70" "1869" "5" "1869" "8" "c.1869+5_1869+8del" "r.(?)" "p.(?)" "" "0000972192" "00024144" "70" "3059" "0" "3059" "0" "c.3059A>G" "r.(?)" "p.(Lys1020Arg)" "" "0000980703" "00024144" "90" "3694" "0" "3694" "0" "c.3694A>C" "r.(?)" "p.(Thr1232Pro)" "" "0000980704" "00024144" "70" "3694" "0" "3694" "0" "c.3694A>C" "r.(?)" "p.(Thr1232Pro)" "" "0000985372" "00024144" "70" "2570" "0" "2570" "0" "c.2570T>C" "r.(?)" "p.(Ile857Thr)" "" "0001000611" "00024144" "90" "3818" "0" "3818" "0" "c.3818C>T" "r.(?)" "p.(Pro1273Leu)" "" "0001000612" "00024144" "90" "2804" "0" "2804" "0" "c.2804C>T" "r.(?)" "p.(Thr935Met)" "" "0001000613" "00024144" "30" "2756" "0" "2756" "0" "c.2756G>A" "r.(?)" "p.(Arg919Gln)" "" "0001000614" "00024144" "50" "1915" "0" "1915" "0" "c.1915C>T" "r.(?)" "p.(His639Tyr)" "" "0001011512" "00024144" "70" "3799" "0" "3799" "0" "c.3799G>A" "r.(?)" 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"p.(Leu282ProfsTer2)" "" "0001039728" "00024144" "70" "2662" "0" "2662" "0" "c.2662A>T" "r.(?)" "p.(Thr888Ser)" "" "0001039729" "00024144" "50" "1555" "0" "1555" "0" "c.1555G>A" "r.(?)" "p.(Val519Met)" "" "0001046452" "00024144" "50" "2978" "0" "2978" "0" "c.2978C>T" "r.(?)" "p.(Thr993Met)" "" "0001046454" "00024144" "50" "1285" "5" "1285" "5" "c.1285+5G>A" "r.spl?" "p.?" "" "0001047864" "00024144" "90" "3359" "0" "3359" "0" "c.3359T>A" "r.(?)" "p.(Leu1120Ter)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 414 "{{screeningid}}" "{{variantid}}" "0000000005" "0000000349" "0000000006" "0000000354" "0000000006" "0000000384" "0000000007" "0000000370" "0000000008" "0000000374" "0000000008" "0000000387" "0000000009" "0000000377" "0000000010" "0000000298" "0000000011" "0000000327" "0000000012" "0000000330" "0000000013" "0000000364" "0000000014" "0000000320" "0000000015" "0000000329" "0000000016" "0000000345" "0000000017" "0000000381" "0000000018" "0000000382" "0000000020" "0000000352" "0000000022" "0000000356" "0000000022" "0000000385" "0000000023" "0000000360" "0000000024" "0000000315" "0000000025" "0000000334" "0000000026" "0000000361" "0000000027" "0000000369" "0000000028" "0000000379" "0000000030" "0000000312" "0000000031" "0000000307" "0000000033" "0000000311" "0000000034" "0000000314" "0000000035" "0000000319" "0000000036" "0000000322" "0000000037" "0000000325" "0000000037" "0000000383" 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