### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CASR) # 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}}" "CASR" "calcium-sensing receptor" "3" "q21.1" "unknown" "NG_009058.1" "UD_134408393795" "" "https://www.LOVD.nl/CASR" "" "1" "1514" "846" "601199" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/CASR_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-05-09 11:12:26" "00000" "2025-11-01 13:22:20" ## 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}}" "00004393" "CASR" "transcript variant 2" "001" "NM_000388.3" "" "NP_000379.2" "" "" "" "-372" "4543" "3237" "121902530" "122005344" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{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" "" "" "00091" "CRC" "cancer, colorectal, susceptibility to (CRC)" "AD;SMu" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2021-12-10 21:51:32" "00130" "PCTT" "pancreatitis" "AD" "167800" "" "" "" "00006" "2013-05-14 09:29:20" "00006" "2025-09-05 16:49:18" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00249" "DENT1" "Dent disease, type 1" "XLR" "300009" "" "" "" "00006" "2013-10-20 13:22:51" "00006" "2021-12-10 21:51:32" "00890" "HHC1" "Hypocalciuric hypercalcemia, type I (HHC-1)" "AD" "145980" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "00891" "NSHPT" "hyperparathyroidism, severe, neonatal (NSHPT)" "AD;AR" "239200" "" "autosomal dominant/autosomal recessive" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02345" "HYPOC1" "hypocalcemia, autosomal dominant, Bartter syndrome incl. (HYPOC-1)" "AD" "601198" "" "autosomal dominant" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02742" "TCP" "pancreatitis, calcific, tropical (TCP)" "AD;AR" "608189" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2020-06-09 09:37:33" "03200" "EIG8" "epilepsy, idiopathic, generalized, susceptibility to, type 8 (EIG-8)" "" "612899" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "04397" "HRPT1" "hyperparathyroidism, familial primary, type 1 (HRPT-1)" "AD" "145000" "" "" "" "00000" "2015-09-23 10:25:22" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 4 "{{geneid}}" "{{diseaseid}}" "CASR" "00890" "CASR" "00891" "CASR" "02345" "CASR" "03200" ## Individuals ## Do not remove or alter this header ## ## Count = 347 "{{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}}" "00204779" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204780" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204781" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204782" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204783" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204784" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204785" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204786" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204787" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204788" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204789" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204790" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204791" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204792" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204793" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204794" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204795" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204796" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204797" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204798" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204799" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204800" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204801" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204802" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204803" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204804" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204805" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204806" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204807" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204808" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204809" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204810" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204811" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204812" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204813" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204814" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204815" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204816" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204817" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204818" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204819" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204820" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204821" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204822" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204823" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204824" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204825" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204826" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204827" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204828" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204829" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204830" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204831" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204832" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204833" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204834" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204835" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204836" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204837" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204838" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204839" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204840" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204841" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204842" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204843" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204844" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204845" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204846" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204847" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204848" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204849" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204850" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204851" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204852" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204853" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204854" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204855" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204856" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204857" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204858" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204859" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204860" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204861" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204862" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204863" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204864" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204865" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204866" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204867" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204868" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204869" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204870" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204871" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204872" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204873" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204874" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204875" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204876" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204877" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204878" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204879" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204880" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204881" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204882" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204883" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204884" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204885" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204886" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204887" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204888" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204889" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204890" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204891" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204892" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204893" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204894" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204895" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204896" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204897" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204898" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204899" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204900" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204901" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204902" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204903" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204904" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204905" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204906" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204907" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204908" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204909" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204910" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204911" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204912" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204913" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204914" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204915" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204916" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204917" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204918" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204919" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204920" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204921" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204922" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204923" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204924" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204925" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204926" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204927" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204928" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204929" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204930" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204931" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204932" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204933" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204934" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204935" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204936" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204937" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204938" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204939" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204940" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204941" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204942" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204943" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204944" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204945" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204946" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204947" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204948" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204949" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204950" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204951" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204952" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204953" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204954" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204955" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204956" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204957" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204958" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204959" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204960" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204961" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204962" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204963" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204964" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204965" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204966" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204967" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204968" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204969" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204970" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204971" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204972" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204973" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204974" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204975" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204976" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204977" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204978" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204979" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204980" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204981" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204982" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204983" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204984" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204985" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204986" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204987" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204988" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204989" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204990" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204991" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204992" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204993" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204994" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204995" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204996" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204997" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204998" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00204999" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205000" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205001" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205002" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205003" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205004" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205005" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205006" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205007" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205008" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205009" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205010" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205011" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205012" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205013" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205014" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205015" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205016" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205017" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205018" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205019" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205020" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205021" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205022" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205023" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205024" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205025" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205026" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205027" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205028" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205029" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205030" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205031" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205032" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205033" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205034" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205035" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205036" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205037" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205038" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205039" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205040" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205041" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205042" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205043" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205044" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205045" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205046" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205047" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205048" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205049" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205050" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205051" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205052" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205053" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205054" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205055" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205056" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205057" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205058" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205059" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205060" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205061" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205062" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205063" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205064" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205065" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205066" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205067" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205068" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205069" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205070" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205071" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205072" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205073" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205074" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205075" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205076" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205077" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205078" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205079" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205080" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205081" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205082" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205083" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205084" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205085" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205086" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205087" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205088" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205089" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205090" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205091" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205092" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205093" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205094" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205095" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205096" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205097" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205098" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205099" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205100" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205101" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205102" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205103" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205104" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205105" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205106" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205107" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205108" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205109" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205110" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205111" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205112" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205113" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205114" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205115" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205116" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205117" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205118" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00205119" "" "" "" "1" "" "00000" "" "" "" "?" "" "" "0" "" "" "" "" "00234341" "" "" "" "4" "" "03293" "" "" "" "" "Australia" "" "0" "" "" "" "" "00293187" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00293188" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00419516" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "9027" "00438397" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "F" "" "China" "" "0" "" "" "" "Pat116" "00445391" "" "" "" "1" "" "04626" "" "" "F" "no" "United States" "" "" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 361 "{{individualid}}" "{{diseaseid}}" "00204779" "00890" "00204780" "00890" "00204780" "00891" "00204781" "00890" "00204782" "00890" "00204783" "00890" "00204784" "00890" "00204784" "00891" "00204785" "00890" "00204786" "00000" "00204787" "00000" "00204788" "00890" "00204789" "00890" "00204790" "00891" "00204791" "00891" "00204792" "00891" "00204793" "02345" "00204794" "00890" "00204794" "00891" "00204795" "00890" "00204796" "00890" "00204797" "02345" "00204798" "00890" "00204799" "00890" "00204800" "00890" "00204801" "00890" "00204802" "00890" "00204803" "00890" "00204804" "00890" "00204805" "00890" "00204806" "00890" "00204807" "00891" "00204808" "00891" "00204809" "00890" "00204809" "00891" "00204810" "00890" "00204811" "00890" "00204811" "00891" "00204812" "00890" "00204812" "00891" "00204813" "00891" "00204814" "00890" "00204815" "00890" "00204816" "00890" "00204817" "00891" "00204818" "00891" "00204819" "04397" "00204820" "02345" "00204821" "02345" "00204822" "02345" "00204823" "02345" "00204824" "02345" "00204825" "02345" "00204826" "02345" "00204827" "02345" "00204828" "02345" "00204829" "02345" "00204830" "02345" "00204831" "02345" "00204832" "02345" "00204833" "02345" "00204834" "02345" "00204835" "02345" "00204836" "02345" "00204837" "02345" "00204838" "02345" "00204839" "02345" "00204840" "02345" "00204841" "02345" "00204842" "02345" "00204843" "02345" "00204844" "02345" "00204845" "02345" "00204846" "00890" "00204847" "00890" "00204848" "00890" "00204849" "00890" "00204850" "00890" "00204851" "02345" "00204852" "02345" "00204853" "02345" "00204854" "02345" "00204855" "02345" "00204856" "00890" "00204857" "04397" "00204858" "00890" "00204859" "00891" "00204860" "02742" "00204861" "00891" "00204862" "00891" "00204863" "00891" "00204864" "00890" "00204865" "00890" "00204866" "00890" "00204867" "00890" "00204868" "00890" "00204869" "00890" "00204870" "00890" "00204871" "00890" "00204872" "00890" "00204873" "00890" "00204874" "00890" "00204874" "00891" "00204875" "00890" "00204876" "00890" "00204877" "00891" "00204878" "00891" "00204879" "00890" "00204880" "00890" "00204881" "00890" "00204882" "00891" "00204883" "02345" "00204884" "00890" "00204885" "00890" "00204886" "00890" "00204887" "00890" "00204888" "00890" "00204889" "00891" "00204890" "00890" "00204891" "00890" "00204892" "00890" "00204893" "00890" "00204894" "00890" "00204895" "00890" "00204896" "04397" "00204897" "00890" "00204898" "00890" "00204899" "00891" "00204900" "00890" "00204901" "00890" "00204902" "00890" "00204903" "00890" "00204904" "00890" "00204905" "00890" "00204906" "00890" "00204907" "02345" "00204908" "02345" "00204909" "02345" "00204910" "02345" "00204911" "02345" "00204912" "02345" "00204913" "00890" "00204914" "00891" "00204915" "00890" "00204916" "00890" "00204917" "00891" "00204918" "02345" "00204919" "02345" "00204920" "02345" "00204921" "02345" "00204922" "02345" "00204923" "02345" "00204924" "02345" "00204925" "04397" "00204926" "00890" "00204927" "04397" "00204928" "00890" "00204929" "04397" "00204930" "00890" "00204931" "00000" "00204932" "04397" "00204933" "00000" "00204934" "00890" "00204935" "00890" "00204936" "00890" "00204936" "00891" "00204937" "00890" "00204938" "02345" "00204939" "00890" "00204940" "00890" "00204941" "04397" "00204942" "00890" "00204943" "00891" "00204944" "00890" "00204945" "00890" "00204946" "00890" "00204947" "03200" "00204948" "00891" "00204949" "00890" "00204950" "00890" "00204951" "02345" "00204952" "00890" "00204953" "02742" "00204954" "02742" "00204955" "00000" "00204956" "00890" "00204957" "00890" "00204958" "00891" "00204959" "00890" "00204960" "00890" "00204961" "02742" "00204962" "00890" "00204963" "00890" "00204964" "00890" "00204965" "00890" "00204966" "00890" "00204967" "00891" "00204968" "00890" "00204969" "00890" "00204969" "00891" "00204970" "00890" "00204971" "00890" "00204972" "00890" "00204973" "02345" "00204974" "00890" "00204975" "00890" "00204976" "00890" "00204977" "00890" "00204978" "00890" "00204979" "02345" "00204980" "00890" "00204981" "00890" "00204982" "00890" "00204983" "02345" "00204984" "00891" "00204985" "00890" "00204986" "00890" 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"{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000153015" "00890" "00204779" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153016" "00890" "00204780" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153017" "00890" "00204781" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153018" "00890" "00204782" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153019" "00890" "00204783" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153020" "00890" 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"" "" "" "" "" "" "" "0000153030" "00890" "00204796" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153031" "02345" "00204797" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153032" "00890" "00204798" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153033" "00890" "00204799" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153034" "00890" "00204800" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153035" "00890" "00204801" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153036" "00890" "00204802" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153037" "00890" "00204803" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153038" "00890" "00204804" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153039" "00890" "00204805" "00000" "Familial" "" "" "" "" "" "" 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"Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153050" "00890" "00204816" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153051" "00891" "00204817" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153052" "00891" "00204818" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153053" "04397" "00204819" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153054" "02345" "00204820" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153055" "02345" "00204821" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153056" "02345" "00204822" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153057" "02345" "00204823" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153058" "02345" "00204824" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153059" "02345" "00204825" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153060" "02345" "00204826" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153061" "02345" "00204827" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153062" "02345" "00204828" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153063" "02345" "00204829" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153064" "02345" "00204831" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153065" "02345" "00204832" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153066" "02345" "00204833" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" 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"Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153085" "02345" "00204855" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153086" "00890" "00204856" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153087" "04397" "00204857" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153088" "00890" "00204858" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153089" "00891" "00204859" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153090" "00891" "00204861" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153091" "00891" "00204862" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153092" "00891" "00204863" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153093" "00890" "00204864" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153094" "00890" "00204865" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153095" "00890" "00204866" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153096" "00890" "00204867" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153097" "00890" "00204868" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153098" "00890" "00204869" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153099" "00890" "00204870" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153100" "00890" "00204871" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153101" "00890" "00204872" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153102" "00890" "00204873" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153103" "00890" "00204874" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153104" "00890" "00204875" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153105" "00890" "00204876" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153106" "00891" "00204877" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153107" "00891" "00204878" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153108" "00890" "00204879" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153109" "00890" "00204880" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153110" "00890" "00204881" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153111" "00891" "00204882" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153112" "02345" "00204883" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153113" "00890" "00204884" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153114" "00890" "00204885" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153115" "00890" "00204886" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153116" "00890" "00204887" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153117" "00890" "00204888" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153118" "00891" "00204889" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153119" "00890" "00204890" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153120" "00890" "00204891" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153121" "00890" "00204892" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153122" "00890" "00204893" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153123" "00890" "00204894" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153124" "00890" "00204895" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153125" "04397" "00204896" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153126" "00890" "00204897" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153127" "00890" "00204898" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153128" "00891" "00204899" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153129" "00890" "00204900" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153130" "00890" "00204901" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153131" "00890" "00204902" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153132" "00890" "00204903" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153133" "00890" "00204904" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153134" "00890" "00204905" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153135" "00890" "00204906" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153136" "02345" "00204907" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153137" "02345" "00204908" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153138" "02345" "00204909" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153139" "02345" "00204910" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153140" "02345" "00204911" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153141" "02345" "00204912" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153142" "00890" "00204913" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153143" "00890" "00204915" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153144" "00890" "00204916" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153145" "00891" "00204917" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153146" "02345" "00204918" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153147" "02345" "00204919" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153148" "02345" "00204921" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153149" "02345" "00204922" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153150" "02345" "00204923" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153151" "04397" "00204925" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153152" "00890" "00204926" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153153" "04397" "00204927" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153154" "00890" "00204928" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153155" "04397" "00204929" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153156" "00890" "00204930" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153157" "00890" "00204934" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153158" "00890" "00204935" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153159" "00890" "00204936" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153160" "00890" "00204937" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153161" "02345" "00204938" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153162" "00890" "00204939" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153163" "00890" "00204940" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153164" "04397" "00204941" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153165" "00890" "00204942" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153166" "00891" "00204943" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153167" "00890" "00204944" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153168" "00890" "00204945" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153169" "00890" "00204946" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153170" "03200" "00204947" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153171" "00891" "00204948" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153172" "00890" "00204949" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153173" "00890" "00204950" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153174" "02345" "00204951" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153175" "00890" "00204952" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153176" "00890" "00204956" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153177" "00890" "00204957" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153178" "00890" "00204959" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153179" "00890" "00204960" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153180" "00890" "00204962" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153181" "00890" "00204963" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153182" "00890" "00204964" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153183" "00890" "00204965" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153184" "00890" "00204966" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153185" "00891" "00204967" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153186" "00890" "00204968" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153187" "00890" "00204969" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153188" "00890" "00204970" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153189" "00890" "00204971" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153190" "00890" "00204972" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153191" "02345" "00204973" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153192" "00890" "00204974" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153193" "00890" "00204975" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153194" "00890" "00204976" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153195" "00890" "00204977" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153196" "00890" "00204978" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153197" "02345" "00204979" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153198" "00890" "00204980" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153199" "00890" "00204981" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153200" "00890" "00204982" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153201" "02345" "00204983" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153202" "00891" "00204984" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153203" "00890" "00204985" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153204" "00890" "00204986" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153205" "00890" "00204987" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153206" "00890" "00204988" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153207" "02345" "00204989" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153208" "00891" "00204990" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153209" "00890" "00204991" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153210" "02345" "00204992" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153211" "02345" "00204993" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153212" "02345" "00204994" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153213" "00890" "00204995" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153214" "02345" "00204996" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153215" "02345" "00204997" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153216" "02345" "00204998" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153217" "00890" "00205000" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153218" "00890" "00205001" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153219" "00890" "00205002" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153220" "00890" "00205003" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153221" "00891" "00205004" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153222" "00890" "00205005" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153223" "00891" "00205006" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153224" "04397" "00205007" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153225" "00890" "00205008" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153226" "00890" "00205009" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153227" "00890" "00205010" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153228" "00890" "00205011" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153229" "00890" "00205012" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153230" "00890" "00205013" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153231" "00890" "00205014" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153232" "00890" "00205015" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153233" "00890" "00205016" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153234" "00891" "00205017" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153235" "00891" "00205018" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153236" "00890" "00205019" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153237" "00890" "00205020" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153238" "00890" "00205021" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153239" "02345" "00205022" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153240" "03200" "00205024" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153241" "04397" "00205025" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153242" "00890" "00205026" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153243" "00890" "00205027" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153244" "02345" "00205028" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153245" "00890" "00205029" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153246" "00890" "00205031" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153247" "00890" "00205033" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153248" "00891" "00205034" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153249" "00890" "00205035" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153250" "00890" "00205036" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153251" "00890" "00205037" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153252" "00890" "00205038" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153253" "00890" "00205040" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153254" "00890" "00205041" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153255" "00890" "00205042" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153256" "02345" "00205043" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153257" "02345" "00205045" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153258" "00890" "00205046" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153259" "02345" "00205047" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153260" "02345" "00205048" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153261" "02345" "00205049" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153262" "02345" "00205050" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153263" "00890" "00205051" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153264" "00890" "00205052" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153265" "00890" "00205053" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153266" "00890" "00205054" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153267" "00890" "00205055" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153268" "02345" "00205056" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153269" "02345" "00205057" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153270" "00890" "00205058" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153271" "02345" "00205059" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153272" "00890" "00205060" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153273" "02345" "00205061" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153274" "00890" "00205063" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153275" "02345" "00205065" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153276" "02345" "00205067" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153277" "02345" "00205068" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153278" "02345" "00205070" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153279" "02345" "00205071" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153280" "02345" "00205073" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153281" "02345" "00205074" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153282" "00890" "00205075" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153283" "00890" "00205076" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153284" "02345" "00205077" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153285" "02345" "00205078" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153286" "02345" "00205079" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153287" "02345" "00205080" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153288" "02345" "00205081" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153289" "02345" "00205082" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153290" "02345" "00205083" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153291" "02345" "00205084" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153292" "02345" "00205085" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153293" "02345" "00205086" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153294" "02345" "00205089" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153295" "00890" "00205090" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153296" "00890" "00205091" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153297" "00890" "00205095" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153298" "00890" "00205096" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153299" "00890" "00205097" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153300" "04397" "00205098" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153301" "02345" "00205100" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153302" "00890" "00205101" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153303" "02345" "00205102" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153304" "03200" "00205103" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153305" "00890" "00205104" "00000" "Familial" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153306" "02345" "00205105" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153307" "02345" "00205106" "00000" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153308" "03200" "00205109" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153309" "03200" "00205110" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153310" "03200" "00205111" "00000" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000153311" "00249" "00205114" "00000" "Isolated (sporadic)" "" 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"0000206148" "00205119" "1" "00000" "00006" "2013-02-17 09:22:50" "" "" "SEQ" "DNA" "" "" "0000235443" "00234341" "1" "03293" "03293" "2019-05-09 10:43:03" "" "" "PCR;SEQ" "RNA;protein" "" "" "0000294355" "00293187" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000294356" "00293188" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000420820" "00419516" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000439879" "00438397" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000446963" "00445391" "1" "04626" "04626" "2024-01-12 19:46:06" "" "" "SEQ-NG" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 343 "{{screeningid}}" "{{geneid}}" "0000205808" "CASR" "0000205809" "CASR" "0000205810" "CASR" "0000205811" "CASR" "0000205812" "CASR" "0000205813" 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"CASR" "0000205864" "CASR" "0000205865" "CASR" "0000205866" "CASR" "0000205867" "CASR" "0000205868" "CASR" "0000205869" "CASR" "0000205870" "CASR" "0000205871" "CASR" "0000205872" "CASR" "0000205873" "CASR" "0000205874" "CASR" "0000205875" "CASR" "0000205876" "CASR" "0000205877" "CASR" "0000205878" "CASR" "0000205879" "CASR" "0000205880" "CASR" "0000205881" "CASR" "0000205882" "CASR" "0000205883" "CASR" "0000205884" "CASR" "0000205885" "CASR" "0000205886" "CASR" "0000205887" "CASR" "0000205888" "CASR" "0000205889" "CASR" "0000205890" "CASR" "0000205891" "CASR" "0000205892" "CASR" "0000205893" "CASR" "0000205894" "CASR" "0000205895" "CASR" "0000205896" "CASR" "0000205897" "CASR" "0000205898" "CASR" "0000205899" "CASR" "0000205900" "CASR" "0000205901" "CASR" "0000205902" "CASR" "0000205903" "CASR" "0000205904" "CASR" "0000205905" "CASR" "0000205906" "CASR" "0000205907" "CASR" "0000205908" "CASR" "0000205909" "CASR" "0000205910" "CASR" "0000205911" "CASR" "0000205912" "CASR" "0000205913" "CASR" "0000205914" "CASR" "0000205915" "CASR" "0000205916" "CASR" "0000205917" "CASR" "0000205918" "CASR" "0000205919" "CASR" "0000205920" "CASR" "0000205921" "CASR" "0000205922" "CASR" "0000205923" "CASR" "0000205924" "CASR" "0000205925" "CASR" "0000205926" "CASR" "0000205927" "CASR" "0000205928" "CASR" "0000205929" "CASR" "0000205930" "CASR" "0000205931" "CASR" "0000205932" "CASR" "0000205933" "CASR" "0000205934" "CASR" "0000205935" "CASR" "0000205936" "CASR" "0000205937" "CASR" "0000205938" "CASR" "0000205939" "CASR" "0000205940" "CASR" "0000205941" "CASR" "0000205942" "CASR" "0000205943" "CASR" "0000205944" "CASR" "0000205945" "CASR" "0000205946" "CASR" "0000205947" "CASR" "0000205948" "CASR" "0000205949" "CASR" "0000205950" "CASR" "0000205951" "CASR" "0000205952" "CASR" "0000205953" "CASR" "0000205954" "CASR" "0000205955" "CASR" "0000205956" "CASR" "0000205957" "CASR" "0000205958" "CASR" "0000205959" "CASR" "0000205960" "CASR" "0000205961" "CASR" "0000205962" "CASR" "0000205963" "CASR" "0000205964" "CASR" "0000205965" "CASR" "0000205966" "CASR" "0000205967" "CASR" "0000205968" "CASR" "0000205969" "CASR" "0000205970" "CASR" "0000205971" "CASR" "0000205972" "CASR" "0000205973" "CASR" "0000205974" "CASR" "0000205975" "CASR" "0000205976" "CASR" "0000205977" "CASR" "0000205978" "CASR" "0000205979" "CASR" "0000205980" "CASR" "0000205981" "CASR" "0000205982" "CASR" "0000205983" "CASR" "0000205984" "CASR" "0000205985" "CASR" "0000205986" "CASR" "0000205987" "CASR" "0000205988" "CASR" "0000205989" "CASR" "0000205990" "CASR" "0000205991" "CASR" "0000205992" "CASR" "0000205993" "CASR" "0000205994" "CASR" "0000205995" "CASR" "0000205996" "CASR" "0000205997" "CASR" "0000205998" "CASR" "0000205999" "CASR" "0000206000" "CASR" "0000206001" "CASR" "0000206002" "CASR" "0000206003" "CASR" "0000206004" "CASR" "0000206005" "CASR" "0000206006" "CASR" "0000206007" "CASR" "0000206008" "CASR" "0000206009" "CASR" "0000206010" "CASR" "0000206011" "CASR" "0000206012" "CASR" "0000206013" "CASR" "0000206014" "CASR" "0000206015" "CASR" "0000206016" "CASR" "0000206017" "CASR" "0000206018" "CASR" "0000206019" "CASR" "0000206020" "CASR" "0000206021" "CASR" "0000206022" "CASR" "0000206023" "CASR" "0000206024" "CASR" "0000206025" "CASR" "0000206026" "CASR" "0000206027" "CASR" "0000206028" "CASR" "0000206029" "CASR" "0000206030" "CASR" "0000206031" "CASR" "0000206032" "CASR" "0000206033" "CASR" "0000206034" "CASR" "0000206035" "CASR" "0000206036" "CASR" "0000206037" "CASR" "0000206038" "CASR" "0000206039" "CASR" "0000206040" "CASR" "0000206041" "CASR" "0000206042" "CASR" "0000206043" "CASR" "0000206044" "CASR" "0000206045" "CASR" "0000206046" "CASR" "0000206047" "CASR" "0000206048" "CASR" "0000206049" "CASR" "0000206050" "CASR" "0000206051" "CASR" "0000206052" "CASR" "0000206053" "CASR" "0000206054" "CASR" "0000206055" "CASR" "0000206056" "CASR" "0000206057" "CASR" "0000206058" "CASR" "0000206059" "CASR" "0000206060" "CASR" "0000206061" "CASR" "0000206062" "CASR" "0000206063" "CASR" "0000206064" "CASR" "0000206065" "CASR" "0000206066" "CASR" "0000206067" "CASR" "0000206068" "CASR" "0000206069" "CASR" "0000206070" "CASR" "0000206071" "CASR" "0000206072" "CASR" "0000206073" "CASR" "0000206074" "CASR" "0000206075" "CASR" "0000206076" "CASR" "0000206077" "CASR" "0000206078" "CASR" "0000206079" "CASR" "0000206080" "CASR" "0000206081" "CASR" "0000206082" "CASR" "0000206083" "CASR" "0000206084" "CASR" "0000206085" "CASR" "0000206086" "CASR" "0000206087" "CASR" "0000206088" "CASR" "0000206089" "CASR" "0000206090" "CASR" "0000206091" "CASR" "0000206092" "CASR" "0000206093" "CASR" "0000206094" "CASR" "0000206095" "CASR" "0000206096" "CASR" "0000206097" "CASR" "0000206098" "CASR" "0000206099" "CASR" "0000206100" "CASR" "0000206101" "CASR" "0000206102" "CASR" "0000206103" "CASR" "0000206104" "CASR" "0000206105" "CASR" "0000206106" "CASR" "0000206107" "CASR" "0000206108" "CASR" "0000206109" "CASR" "0000206110" "CASR" "0000206111" "CASR" "0000206112" "CASR" "0000206113" "CASR" "0000206114" "CASR" "0000206115" "CASR" "0000206116" "CASR" "0000206117" "CASR" "0000206118" "CASR" "0000206119" "CASR" "0000206120" "CASR" "0000206121" "CASR" "0000206122" "CASR" "0000206123" "CASR" "0000206124" "CASR" "0000206125" "CASR" "0000206126" "CASR" "0000206127" "CASR" "0000206128" "CASR" "0000206129" "CASR" "0000206130" "CASR" "0000206131" "CASR" "0000206132" "CASR" "0000206133" "CASR" "0000206134" "CASR" "0000206135" "CASR" "0000206136" "CASR" "0000206137" "CASR" "0000206138" "CASR" "0000206139" "CASR" "0000206140" "CASR" "0000206141" "CASR" "0000206142" "CASR" "0000206143" "CASR" "0000206144" "CASR" "0000206145" "CASR" "0000206146" "CASR" "0000206147" "CASR" "0000206148" "CASR" "0000235443" "CASR" "0000446963" "CASR" ## 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 = 512 "{{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}}" "0000251158" "0" "10" "3" "121981215" "121981215" "subst" "0.0331782" "02326" "CASR_000070" "g.121981215A>G" "" "" "" "CASR(NM_001178065.2):c.1333A>G (p.T445A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262368A>G" "" "benign" "" "0000251297" "0" "10" "3" "122004098" "122004098" "subst" "0" "02326" "CASR_000278" "g.122004098A>T" "" "" "" "CASR(NM_001178065.2):c.*60A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122285251A>T" "" "benign" "" "0000256400" "0" "50" "3" "122000973" "122000973" "subst" "1.21819E-5" "01943" "CASR_000291" "g.122000973A>G" "" "" "" "CASR(NM_000388.4):c.1622A>G (p.(Asn541Ser)), CASR(NM_001178065.1):c.1652A>G (p.N551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122282126A>G" "" "VUS" "" "0000266490" "0" "10" "3" "122003045" "122003045" "subst" "0.993577" "02325" "CASR_000271" "g.122003045G>C" "" "" "" "CASR(NM_001178065.2):c.2274G>C (p.P758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284198G>C" "" "benign" "" "0000266491" "0" "10" "3" "122003757" "122003757" "subst" "0.12923" "02325" "CASR_000017" "g.122003757G>T" "" "" "" "CASR(NM_001178065.2):c.2986G>T (p.A996S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284910G>T" "" "benign" "" "0000266492" "0" "30" "3" "122003774" "122003774" "subst" "4.06128E-6" "02325" "CASR_000275" "g.122003774T>C" "" "" "" "CASR(NM_001178065.2):c.3003T>C (p.N1001=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284927T>C" "" "likely benign" "" "0000266493" "0" "10" "3" "122003832" "122003832" "subst" "0.950085" "02325" "CASR_000276" "g.122003832G>C" "" "" "" "CASR(NM_001178065.2):c.3061G>C (p.E1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284985G>C" "" "benign" "" "0000266494" "0" "10" "3" "121976253" "121976253" "subst" "0.949228" "02325" "CASR_000250" "g.121976253G>A" "" "" "" "CASR(NM_001178065.2):c.492+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257406G>A" "" "benign" "" "0000269793" "0" "30" "3" "121981087" "121981087" "subst" "0" "02326" "CASR_000258" "g.121981087G>A" "" "" "" "CASR(NM_001178065.2):c.1205G>A (p.S402N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262240G>A" "" "likely benign" "" "0000269794" "0" "30" "3" "121981167" "121981167" "subst" "0.00225205" "02326" "CASR_000260" "g.121981167C>T" "" "" "" "CASR(NM_001178065.2):c.1285C>T (p.H429Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262320C>T" "" "likely benign" "" "0000269795" "0" "10" "3" "122000871" "122000871" "subst" "0" "02326" "CASR_000264" "g.122000871C>T" "" "" "" "CASR(NM_001178065.2):c.1609-59C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122282024C>T" "" "benign" "" "0000269796" "0" "10" "3" "122003045" "122003045" "subst" "0.993577" "02326" "CASR_000271" "g.122003045G>C" "" "" "" "CASR(NM_001178065.2):c.2274G>C (p.P758=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284198G>C" "" "benign" "" "0000269797" "0" "10" "3" "122003757" "122003757" "subst" "0.12923" "02326" "CASR_000017" "g.122003757G>T" "" "" "" "CASR(NM_001178065.2):c.2986G>T (p.A996S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284910G>T" "" "benign" "" "0000269798" "0" "30" "3" "122003814" "122003814" "subst" "5.28133E-5" "02326" "CASR_000146" "g.122003814G>A" "" "" "" "CASR(NM_000388.3):c.3013G>A (p.(Asp1005Asn)), CASR(NM_001178065.2):c.3043G>A (p.D1015N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284967G>A" "" "likely benign" "" "0000269799" "0" "10" "3" "122003832" "122003832" "subst" "0.950085" "02326" "CASR_000276" "g.122003832G>C" "" "" "" "CASR(NM_001178065.2):c.3061G>C (p.E1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284985G>C" "" "benign" "" "0000269800" "0" "10" "3" "121976253" "121976253" "subst" "0.949228" "02326" "CASR_000250" "g.121976253G>A" "" "" "" "CASR(NM_001178065.2):c.492+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257406G>A" "" "benign" "" "0000269801" "0" "10" "3" "121980242" "121980242" "subst" "0" "02326" "CASR_000252" "g.121980242T>C" "" "" "" "CASR(NM_001178065.2):c.493-133T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261395T>C" "" "benign" "" "0000269802" "0" "30" "3" "121980143" "121980143" "subst" "0" "02326" "CASR_000251" "g.121980143T>C" "" "" "" "CASR(NM_001178065.2):c.493-232T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261296T>C" "" "likely benign" "" "0000269803" "0" "10" "3" "121980284" "121980284" "subst" "0" "02326" "CASR_000253" "g.121980284C>T" "" "" "" "CASR(NM_001178065.2):c.493-91C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261437C>T" "" "benign" "" "0000269804" "0" "30" "3" "121980455" "121980455" "subst" "0.00193947" "02326" "CASR_000254" "g.121980455G>A" "" "" "" "CASR(NM_000388.3):c.573G>A (p.(Glu191=)), CASR(NM_001178065.2):c.573G>A (p.E191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261608G>A" "" "likely benign" "" "0000269805" "0" "30" "3" "121980630" "121980630" "subst" "0.00150746" "02326" "CASR_000068" "g.121980630G>A" "" "" "" "CASR(NM_000388.3):c.748G>A (p.(Glu250Lys)), CASR(NM_001178065.1):c.748G>A (p.E250K), CASR(NM_001178065.2):c.748G>A (p.E250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261783G>A" "" "likely benign" "" "0000272668" "0" "30" "3" "122002586" "122002586" "subst" "0" "01943" "CASR_000269" "g.122002586C>T" "" "" "" "CASR(NM_001178065.1):c.1815C>T (p.H605=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122283739C>T" "" "likely benign" "" "0000337056" "0" "10" "3" "121976253" "121976253" "subst" "0.949228" "02327" "CASR_000250" "g.121976253G>A" "" "" "" "CASR(NM_001178065.2):c.492+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257406G>A" "" "benign" "" "0000337057" "0" "10" "3" "122001099" "122001099" "subst" "0.128998" "02327" "CASR_000266" "g.122001099T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122282252T>C" "" "benign" "" "0000340637" "0" "10" "3" "121973114" "121973114" "subst" "0.00423787" "02327" "CASR_000246" "g.121973114C>G" "" "" "" "CASR(NM_000388.4):c.78C>G (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122254267C>G" "" "benign" "" "0000341032" "0" "30" "3" "122003717" "122003717" "subst" "4.06138E-6" "02327" "CASR_000274" "g.122003717G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284870G>A" "" "likely benign" "" "0000341321" "0" "50" "3" "121973113" "121973113" "subst" "0" "02327" "CASR_000245" "g.121973113C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122254266C>T" "" "VUS" "" "0000341646" "0" "10" "3" "122003757" "122003757" "subst" "0.12923" "02327" "CASR_000017" "g.122003757G>T" "" "" "" "CASR(NM_001178065.2):c.2986G>T (p.A996S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284910G>T" "" "benign" "" "0000342130" "0" "90" "3" "121980436" "121980436" "subst" "0" "02327" "CASR_000009" "g.121980436G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261589G>A" "" "pathogenic" "" "0000342414" "0" "90" "3" "121973109" "121973109" "subst" "8.12704E-6" "02327" "CASR_000109" "g.121973109C>T" "" "" "" "CASR(NM_000388.3):c.73C>T (p.(Arg25Ter)), CASR(NM_001178065.2):c.73C>T (p.R25*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122254262C>T" "" "pathogenic" "" "0000342795" "0" "90" "3" "121981056" "121981056" "subst" "0" "02327" "CASR_000202" "g.121981056C>T" "" "" "" "CASR(NM_001178065.1):c.1174C>T (p.R392*), CASR(NM_001178065.2):c.1174C>T (p.R392*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262209C>T" "" "pathogenic" "" "0000342855" "0" "70" "3" "121981126" "121981126" "subst" "4.06207E-6" "02327" "CASR_000259" "g.121981126G>A" "" "" "" "CASR(NM_000388.4):c.1244G>A (p.R415Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262279G>A" "" "likely pathogenic" "" "0000342948" "0" "90" "3" "121994675" "121994675" "subst" "0" "02327" "CASR_000105" "g.121994675G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122275828G>A" "" "pathogenic" "" "0000343255" "0" "90" "3" "122002839" "122002839" "subst" "0" "02327" "CASR_000023" "g.122002839C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122283992C>T" "" "pathogenic" "" "0000343373" "0" "90" "3" "122003184" "122003184" "subst" "0" "02327" "CASR_000008" "g.122003184C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284337C>T" "" "pathogenic" "" "0000343558" "0" "30" "3" "122004021" "122004021" "subst" "1.63562E-5" "02327" "CASR_000277" "g.122004021A>G" "" "" "" "CASR(NM_000388.4):c.3220A>G (p.(Asn1074Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122285174A>G" "" "likely benign" "" "0000343588" "0" "90" "3" "121976130" "121976135" "del" "0" "02327" "CASR_000247" "g.121976130_121976135del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257283_122257288del" "" "pathogenic" "" "0000344037" "0" "50" "3" "121980707" "121980707" "subst" "0" "02327" "CASR_000256" "g.121980707T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122261860T>A" "" "VUS" "" "0000344394" "0" "50" "3" "121981227" "121981227" "subst" "0" "02327" "CASR_000290" "g.121981227T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262380T>C" "" "VUS" "" "0000344395" "0" "70" "3" "121981227" "121981227" "subst" "0" "02327" "CASR_000261" "g.121981227T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262380T>A" "" "likely pathogenic" "" "0000344429" "0" "70" "3" "122002546" "122002546" "subst" "0" "02327" "CASR_000267" "g.122002546G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122283699G>C" "" "likely pathogenic" "" "0000344430" "0" "90" "3" "122002546" "122002546" "subst" "0" "02327" "CASR_000020" "g.122002546G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122283699G>A" "" "pathogenic" "" "0000344481" "0" "30" "3" "122003832" "122003832" "subst" "0.950085" "02327" "CASR_000276" "g.122003832G>C" "" "" "" "CASR(NM_001178065.2):c.3061G>C (p.E1021Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284985G>C" "" "likely benign" "" "0000345756" "0" "50" "3" "121976214" "121976214" "subst" "0" "02327" "CASR_000249" "g.121976214G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257367G>C" "" "VUS" "" "0000346788" "0" "50" "3" "122002885" "122002885" "subst" "0" "02327" "CASR_000270" "g.122002885T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122284038T>G" "" "VUS" "" "0000346922" "0" "70" "3" "121976218" "121976218" "subst" "0" "02327" "CASR_000222" "g.121976218T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257371T>G" "" "likely pathogenic" "" "0000347524" "0" "90" "3" "121980849" "121980849" "subst" "0" "02327" "CASR_000108" "g.121980849A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262002A>T" "" "pathogenic" "" "0000348227" "0" "50" "3" "121976230" "121976230" "subst" "0" "02327" "CASR_000149" "g.121976230C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257383C>G" "" "VUS" "" "0000348504" "0" "90" "3" "121973200" "121973200" "subst" "0" "02327" "CASR_000016" "g.121973200C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000348707" "0" "70" "3" "121976151" "121976151" "subst" "0" "02327" "CASR_000220" "g.121976151T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257304T>C" "" "likely pathogenic" "" "0000349283" "0" "70" "3" "121976154" "121976154" "subst" "0" "02327" "CASR_000248" "g.121976154A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122257307A>C" "" "likely pathogenic" "" "0000349520" "0" "10" "3" "121981215" "121981215" "subst" "0.0331782" "02327" "CASR_000070" "g.121981215A>G" "" "" "" "CASR(NM_001178065.2):c.1333A>G (p.T445A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122262368A>G" "" "benign" "" "0000349812" "0" "50" "3" "121994761" "121994761" "subst" "0" "02327" "CASR_000262" "g.121994761T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122275914T>C" "" "VUS" "" "0000349822" "0" "70" "3" "121994869" "121994869" "subst" "0" "02327" "CASR_000263" "g.121994869T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.122276022T>C" "" "likely pathogenic" "" "0000435218" "0" "95" "3" "121973027" "121973027" "subst" "2.03226E-5" "00000" "CASR_000197" "g.121973027C>T" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254180C>T" "" "pathogenic" "" "0000435219" "0" "95" "3" "121973038" "121973038" "subst" "0" "00000" "CASR_000114" "g.121973038T>G" "" "{PMID:De Andrade 2006:17121537}" "" "(M1R)" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254191T>G" "" "pathogenic" "" "0000435220" "0" "95" "3" "121973055" "121973055" "dup" "0" "00000" "CASR_000228" "g.121973055dup" "" "{PMID:D\'Souza-Li 2002:11889203}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254208dup" "" "pathogenic" "" "0000435221" "0" "95" "3" "121973055" "121973055" "dup" "0" "00000" "CASR_000074" "g.121973055dup" "" "{PMID:D\'Souza-Li 2002:11889203}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254208dup" "" "pathogenic" "" "0000435222" "0" "95" "3" "121973068" "121973068" "subst" "4.06332E-6" "00000" "CASR_000097" "g.121973068T>C" "" "{PMID:Pidasheva 2005:15879434}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254221T>C" "" "pathogenic" "" "0000435223" "0" "95" "3" "121973074" "121973074" "subst" "0" "00000" "CASR_000095" "g.121973074T>C" "" "{PMID:Miyashiro 2004:15579740}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254227T>C" "" "pathogenic" "" "0000435224" "0" "95" "3" "121973074" "121973074" "subst" "0" "00000" "CASR_000095" "g.121973074T>C" "" "{PMID:Pidasheva 2005:15879434}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254227T>C" "" "pathogenic" "" "0000435225" "0" "15" "3" "121973076" "121973076" "subst" "1.62526E-5" "00000" "CASR_000098" "g.121973076A>G" "" "{PMID:Pidasheva 2005:15879434}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254229A>G" "" "benign" "" "0000435226" "0" "15" "3" "121973096" "121973096" "subst" "7.31398E-5" "00000" "CASR_000179" "g.121973096C>T" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254249C>T" "" "benign" "" "0000435227" "0" "95" "3" "121973097" "121973097" "subst" "0" "00000" "CASR_000131" "g.121973097G>A" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254250G>A" "" "pathogenic" "" "0000435228" "0" "95" "3" "121973109" "121973109" "subst" "8.12704E-6" "00000" "CASR_000109" "g.121973109C>T" "" "{PMID:Ward 2006:16649980}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254262C>T" "" "pathogenic" "" "0000435229" "0" "95" "3" "121973109" "121973109" "subst" "8.12704E-6" "00000" "CASR_000109" "g.121973109C>T" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254262C>T" "" "pathogenic" "" "0000435230" "0" "95" "3" "121973109" "121973109" "subst" "8.12704E-6" "00000" "CASR_000109" "g.121973109C>T" "" "Despert 2005" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254262C>T" "" "pathogenic" "" "0000435231" "0" "95" "3" "121973116" "121973116" "subst" "0" "00000" "CASR_000048" "g.121973116A>G" "" "{PMID:Chikatsu 1999:10468915}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254269A>G" "" "pathogenic" "" "0000435232" "0" "95" "3" "121973121" "121973121" "subst" "0" "00000" "CASR_000089" "g.121973121A>G" "" "{PMID:Hu 2004:15005845}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254274A>G" "" "pathogenic" "" "0000435233" "0" "95" "3" "121973151" "121973151" "subst" "0" "00000" "CASR_000001" "g.121973151C>G" "" "{PMID:Aida 1995:07673400}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254304C>G" "" "pathogenic" "" "0000435234" "0" "95" "3" "121973154" "121973154" "subst" "0" "00000" "CASR_000077" "g.121973154A>T" "" "{PMID:Vargas-Poussou 2002:12191970}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254307A>T" "" "pathogenic" "" "0000435235" "0" "95" "3" "121973161" "121973161" "subst" "0" "00000" "CASR_000167" "g.121973161T>G" "" "{PMID:Cole 2009:19179454}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254314T>G" "" "pathogenic" "" "0000435236" "0" "95" "3" "121973177" "121973177" "subst" "0" "00000" "CASR_000046" "g.121973177A>C" "" "{PMID:Okazaki 1999:09920108}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254330A>C" "" "pathogenic" "" "0000435237" "0" "95" "3" "121973193" "121973193" "subst" "0" "00000" "CASR_000015" "g.121973193T>C" "" "{PMID:Heath 1996:08636323}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254346T>C" "" "pathogenic" "" "0000435238" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Heath 1996:08636323}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435239" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Pearce 1995:08675635}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435240" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Fukimoto 2001:11763315}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435241" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Cetani 2003:12580936}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435242" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Speer 2003:14714270}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435243" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Cole 2009:19179454}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435244" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435245" "0" "95" "3" "121973200" "121973200" "subst" "0" "00000" "CASR_000016" "g.121973200C>T" "" "Haag 2005" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254353C>T" "" "pathogenic" "" "0000435246" "0" "95" "3" "121973215" "121973215" "subst" "0" "00000" "CASR_000090" "g.121973215G>T" "" "{PMID:Waller 2004:15241688}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254368G>T" "" "pathogenic" "" "0000435247" "0" "95" "3" "121973215" "121973215" "subst" "0" "00000" "CASR_000090" "g.121973215G>T" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254368G>T" "" "pathogenic" "" "0000435248" "0" "95" "3" "121973221" "121973221" "subst" "0" "00000" "CASR_000002" "g.121973221G>T" "" "{PMID:Chou 1995:07726161}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254374G>T" "" "pathogenic" "" "0000435249" "0" "95" "3" "121973222" "121973222" "subst" "0" "00000" "CASR_000156" "g.121973222G>C" "" "{PMID:Cetani 2009:19073830}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122254375G>C" "" "pathogenic" "" "0000435250" "0" "95" "3" "121975927" "121975927" "subst" "0" "00000" "CASR_000073" "g.121975927G>T" "" "{PMID:D\'Souza-Li 2002:11889203}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257080G>T" "" "pathogenic" "" "0000435251" "0" "95" "3" "121975938" "121975938" "subst" "0" "00000" "CASR_000003" "g.121975938C>T" "" "{PMID:Chou 1995:07726161}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257091C>T" "" "pathogenic" "" "0000435252" "0" "95" "3" "121975939" "121975939" "subst" "0" "00000" "CASR_000111" "g.121975939G>A" "" "{PMID:Pidasheva 2006:16740594}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257092G>A" "" "pathogenic" "" "0000435253" "0" "95" "3" "121975948" "121975948" "subst" "0" "00000" "CASR_000217" "g.121975948G>A" "" "Rodriguez 2009" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257101G>A" "" "pathogenic" "" "0000435254" "0" "95" "3" "121975985" "121975985" "subst" "0" "00000" "CASR_000168" "g.121975985A>G" "" "{PMID:Cole 2009:19179454}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257138A>G" "" "pathogenic" "" "0000435255" "0" "95" "3" "121976022" "121976022" "subst" "0" "00000" "CASR_000207" "g.121976022G>C" "" "Defrance-Faivre 2008" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257175G>C" "" "pathogenic" "" "0000435256" "0" "95" "3" "121976022" "121976022" "subst" "0" "00000" "CASR_000092" "g.121976022G>T" "" "{PMID:Ward 2004:15292296}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257175G>T" "" "pathogenic" "" "0000435257" "0" "95" "3" "121976022" "121976022" "subst" "0" "00000" "CASR_000092" "g.121976022G>T" "" "Burrows 2001" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257175G>T" "" "pathogenic" "" "0000435258" "0" "95" "3" "121976041" "121976041" "subst" "0" "00000" "CASR_000087" "g.121976041C>T" "" "{PMID:Warner 2004:14985373}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257194C>T" "" "pathogenic" "" "0000435259" "0" "95" "3" "121976088" "121976088" "subst" "0" "00000" "CASR_000030" "g.121976088G>A" "" "{PMID:Baron 1996:08733126}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122257241G>A" "" "pathogenic" "" "0000435260" "0" "95" "3" "121976088" "121976088" "subst" 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"0000435312" "0" "95" "3" "121980421" "121980421" "subst" "0" "00000" "CASR_000116" "g.121980421T>G" "" "{PMID:Zajickova 2007:17473068}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261574T>G" "" "pathogenic" "" "0000435313" "0" "95" "3" "121980435" "121980435" "subst" "0" "00000" "CASR_000043" "g.121980435C>T" "" "{PMID:Kobayashi 1997:09253359}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261588C>T" "" "pathogenic" "" "0000435314" "0" "95" "3" "121980436" "121980436" "subst" "0" "00000" "CASR_000009" "g.121980436G>A" "" "{PMID:Pollak 1993:07916660}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261589G>A" "" "pathogenic" "" "0000435315" "0" "95" "3" "121980436" "121980436" "subst" "0" "00000" "CASR_000009" "g.121980436G>A" "" "{PMID:Heath 1996:08636323}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261589G>A" "" "pathogenic" "" "0000435316" "0" "95" "3" "121980436" "121980436" "subst" "0" "00000" "CASR_000009" "g.121980436G>A" "" "{PMID:Bai 1997:09011580}" "" "" 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"0000435340" "0" "95" "3" "121980540" "121980540" "subst" "4.07232E-6" "00000" "CASR_000052" "g.121980540C>T" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261693C>T" "" "pathogenic" "" "0000435341" "0" "95" "3" "121980541" "121980541" "subst" "4.07232E-6" "00000" "CASR_000038" "g.121980541G>A" "" "{PMID:Pearce 1996:09039332}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261694G>A" "" "pathogenic" "" "0000435342" "0" "95" "3" "121980541" "121980541" "subst" "0" "00000" "CASR_000218" "g.121980541G>C" "" "Ryan 2005" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261694G>C" "" "pathogenic" "" "0000435343" "0" "95" "3" "121980543" "121980543" "subst" "0" "00000" "CASR_000039" "g.121980543C>T" "" "{PMID:Pearce 1996:09039332}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261696C>T" "" "pathogenic" "" "0000435344" "0" "95" "3" "121980544" "121980544" "subst" "0" "00000" "CASR_000127" "g.121980544C>A" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" 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"121980562" "subst" "4.06967E-6" "00000" "CASR_000006" "g.121980562G>A" "" "{PMID:Chou 1995:07726161}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261715G>A" "" "pathogenic" "" "0000435355" "0" "95" "3" "121980562" "121980562" "subst" "4.06967E-6" "00000" "CASR_000006" "g.121980562G>A" "" "{PMID:Wystrychowski 2005:15572418}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261715G>A" "" "pathogenic" "" "0000435356" "0" "95" "3" "121980562" "121980562" "subst" "0" "00000" "CASR_000027" "g.121980562G>T" "" "{PMID:Pearce 1995:08675635}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261715G>T" "" "pathogenic" "" "0000435357" "0" "95" "3" "121980564" "121980564" "subst" "0" "00000" "CASR_000158" "g.121980564G>A" "" "{PMID:Cole 2009:19179454}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261717G>A" "" "pathogenic" "" "0000435358" "0" "95" "3" "121980564" "121980564" "subst" "0" "00000" "CASR_000057" "g.121980564G>C" "" "{PMID:Conley 2000:11136551}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261717G>C" "" "pathogenic" "" "0000435359" "0" "95" "3" "121980565" "121980565" "subst" "0" "00000" "CASR_000236" "g.121980565A>G" "" "{PMID:Nakajima 2009:19915295}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261718A>G" "" "pathogenic" "" "0000435360" "0" "95" "3" "121980603" "121980603" "subst" "0" "00000" "CASR_000190" "g.121980603G>A" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261756G>A" "" "pathogenic" "" "0000435361" "0" "95" "3" "121980616" "121980616" "subst" "0" "00000" "CASR_000058" "g.121980616A>G" "" "{PMID:Conley 2000:11136551}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261769A>G" "" "pathogenic" "" "0000435362" "0" "95" "3" "121980616" "121980616" "subst" "0" "00000" "CASR_000058" "g.121980616A>G" "" "Haag 2005" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261769A>G" "" "pathogenic" "" "0000435363" "0" "95" "3" "121980616" "121980616" "subst" "0" "00000" "CASR_000058" "g.121980616A>G" "" "Perry 1994" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261769A>G" "" "pathogenic" "" "0000435364" "0" "95" "3" "121980630" "121980630" "subst" "0.00150746" "00000" "CASR_000068" "g.121980630G>A" "" "{PMID:Simonds 2002:11807402}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261783G>A" "" "pathogenic" "" "0000435365" "0" "95" "3" "121980630" "121980630" "subst" "0.00150746" "00000" "CASR_000068" "g.121980630G>A" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261783G>A" "" "pathogenic" "" "0000435366" "0" "95" "3" "121980630" "121980630" "subst" "0.00150746" "00000" "CASR_000068" "g.121980630G>A" "" "Haag 2005" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261783G>A" "" "pathogenic" "" "0000435367" "0" "95" "3" "121980670" "121980670" "subst" "0" "00000" "CASR_000175" "g.121980670C>Y" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261823C>Y" "" "pathogenic" "" "0000435368" "0" "95" "3" "121980684" "121980695" "del" "0" "00000" "CASR_000069" "g.121980684_121980695del" "" "{PMID:Simonds 2002:11807402}" "" "801_812del11 " "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261837_122261848del" "" "pathogenic" "" "0000435369" "0" "95" "3" "121980694" "121980694" "subst" "0" "00000" "CASR_000129" "g.121980694C>T" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261847C>T" "" "pathogenic" "" "0000435370" "0" "15" "3" "121980702" "121980702" "subst" "0" "00000" "CASR_000176" "g.121980702C>T" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261855C>T" "" "benign" "" "0000435371" "0" "95" "3" "121980730" "121980730" "subst" "9.75055E-5" "00000" "CASR_000177" "g.121980730T>C" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261883T>C" "" "pathogenic" "" "0000435372" "0" "15" "3" "121980735" "121980735" "subst" "0" "00000" "CASR_000178" "g.121980735C>T" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" 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"{PMID:Silve 2005:16147994}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261926G>C" "" "pathogenic" "" "0000435378" "0" "95" "3" "121980843" "121980843" "subst" "0" "00000" "CASR_000135" "g.121980843G>C" "" "{PMID:Ono 2008:18430790}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122261996G>C" "" "pathogenic" "" "0000435379" "0" "95" "3" "121980849" "121980849" "subst" "0" "00000" "CASR_000108" "g.121980849A>T" "" "{PMID:Ward 2006:16649980}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262002A>T" "" "pathogenic" "" "0000435380" "0" "95" "3" "121980888" "121980890" "del" "0" "00000" "CASR_000088" "g.121980888_121980890del" "" "{PMID:Warner 2004:14985373}" "" "1006_1008delAAG" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262041_122262043del" "" "pathogenic" "" "0000435381" "0" "95" "3" "121980897" "121980897" "subst" "0" "00000" "CASR_000183" "g.121980897C>A" "" "{PMID:Hannan 2010:20846291}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262050C>A" "" "pathogenic" "" "0000435382" "0" "95" "3" "121980913" "121980916" "delins" "0" "00000" "CASR_000182" "g.121980913_121980916delinsT" "" "{PMID:Dong 2010:20631026}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262066_122262069delinsT" "" "pathogenic" "" "0000435383" "0" "95" "3" "121980933" "121980933" "subst" "0" "00000" "CASR_000180" "g.121980933T>G" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262086T>G" "" "pathogenic" "" "0000435384" "0" "95" "3" "121980933" "121980933" "subst" "0" "00000" "CASR_000180" "g.121980933T>G" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262086T>G" "" "pathogenic" "" "0000435385" "0" "95" "3" "121980938" "121980938" "subst" "0" "00000" "CASR_000130" "g.121980938G>A" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262091G>A" "" "pathogenic" "" "0000435386" "0" "95" "3" "121980943" "121980943" "subst" "0" "00000" "CASR_000137" "g.121980943A>C" "" "{PMID:Kapoor 2008:18756473}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262096A>C" "" "pathogenic" "" "0000435387" "0" "95" "3" "121981056" "121981056" "subst" "0" "00000" "CASR_000202" "g.121981056C>T" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262209C>T" "" "pathogenic" "" "0000435388" "0" "95" "3" "121981065" "121981065" "subst" "0" "00000" "CASR_000054" "g.121981065T>C" "" "{PMID:Vigouroux 2000:10971459}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262218T>C" "" "pathogenic" "" "0000435389" "0" "95" "3" "121981071" "121981071" "subst" "0" "00000" "CASR_000132" "g.121981071G>A" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262224G>A" "" "pathogenic" "" "0000435390" "0" "95" "3" "121981138" "121981138" "subst" "0" "00000" "CASR_000192" "g.121981138A>G" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122262291A>G" "" "pathogenic" "" "0000435391" "0" "95" "3" "121981149" "121981150" "delins" 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"122003331" "subst" "0" "00000" "CASR_000212" "g.122003331G>A" "" "Haag 2005" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284484G>A" "" "pathogenic" "" "0000435526" "0" "95" "3" "122003331" "122003331" "subst" "0" "00000" "CASR_000212" "g.122003331G>A" "" "{PMID:Letz 2010:20668040}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284484G>A" "" "pathogenic" "" "0000435527" "0" "95" "3" "122003331" "122003331" "subst" "0" "00000" "CASR_000237" "g.122003331G>C" "" "{PMID:Nakajima 2009:19915295}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284484G>C" "" "pathogenic" "" "0000435528" "0" "95" "3" "122003335" "122003335" "subst" "0" "00000" "CASR_000195" "g.122003335G>A" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284488G>A" "" "pathogenic" "" "0000435529" "0" "95" "3" "122003347" "122003347" "subst" "0" "00000" "CASR_000144" "g.122003347T>C" "" "{PMID:Rus 2008:18796518}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284500T>C" "" "pathogenic" "" "0000435530" "0" "95" "3" "122003351" "122003352" "ins" "0" "00000" "CASR_000072" "g.122003351_122003352insCCAG" "" "{PMID:D\'Souza-Li 2002:11889203}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284504_122284505insCCAG" "" "pathogenic" "" "0000435531" "0" "15" "3" "122003352" "122003352" "subst" "2.44248E-5" "00000" "CASR_000032" "g.122003352T>A" "" "{PMID:Baron 1996:08733126}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284505T>A" "" "benign" "" "0000435532" "0" "15" "3" "122003352" "122003352" "subst" "2.44248E-5" "00000" "CASR_000032" "g.122003352T>A" "" "{PMID:Vigouroux 2000:10971459}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284505T>A" "" "benign" "" "0000435533" "0" "15" "3" "122003352" "122003352" "subst" "2.44248E-5" "00000" "CASR_000032" "g.122003352T>A" "" "{PMID:Guarnieri 2010:20164288}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284505T>A" "" "benign" "" "0000435534" "0" "95" "3" "0" "0" "" "0" "00000" "CASR_000011" "g.?" "" "{PMID:Janicic 1995:08597637}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000435535" "0" "95" "3" "122003442" "122003442" "subst" "0" "00000" "CASR_000051" "g.122003442T>C" "" "{PMID:Carling 2000:10843194}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284595T>C" "" "pathogenic" "" "0000435536" "0" "95" "3" "122003457" "122003457" "subst" "0" "00000" "CASR_000125" "g.122003457C>T" "" "{PMID:Nissen 2007:17698911}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284610C>T" "" "pathogenic" "" "0000435537" "0" "95" "3" "122003458" "122003458" "subst" "0" "00000" "CASR_000066" "g.122003458G>C" "" "{PMID:Simonds 2002:11807402}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284611G>C" "" "pathogenic" "" "0000435538" "0" "95" "3" "122003464" "122003464" "subst" "0" "00000" "CASR_000239" "g.122003464C>T" "" "{PMID:Lazarus 2011:21135065}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284617C>T" "" "pathogenic" "" "0000435539" "0" "95" "3" "122003483" "122004025" "del" "0" "00000" "CASR_000050" "g.122003483_122004025del" "" "{PMID:Lienhardt 2000:10770217}" "" "2682_3224del542" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284636_122285178del" "" "pathogenic" "" "0000435540" "0" "95" "3" "122003488" "122003488" "subst" "8.13928E-6" "00000" "CASR_000103" "g.122003488G>A" "" "{PMID:Felderbauer 2006:16497624}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284641G>A" "" "pathogenic" "" "0000435541" "0" "95" "3" "122003492" "122003492" "dup" "0" "00000" "CASR_000215" "g.122003492dup" "" "Lienhardt 2001" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284645dup" "" "pathogenic" "" "0000435542" "0" "95" "3" "122003494" "122003494" "subst" "3.25616E-5" "00000" "CASR_000139" "g.122003494G>A" "" "{PMID:Kapoor 2008:18756473}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284647G>A" "" "pathogenic" "" "0000435543" "0" "95" "3" "122003578" "122003578" "subst" "0.000109816" "00000" "CASR_000145" "g.122003578A>G" "" "{PMID:Rus 2008:18796518}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284731A>G" "" "pathogenic" "" "0000435544" "0" "95" "3" "122003589" "122003589" "del" "0" "00000" "CASR_000196" "g.122003589del" "" "Christie 2007" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284742del" "" "pathogenic" "" "0000435545" "0" "95" "3" "122003625" "122003625" "subst" "0.000894433" "00000" "CASR_000210" "g.122003625G>A" "" "Ekhzaimy 2006" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284778G>A" "" "pathogenic" "" "0000435546" "0" "15" "3" "122003757" "122003757" "subst" "0.12923" "00000" "CASR_000017" "g.122003757G>T" "" "{PMID:Heath 1996:08636323}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284910G>T" "" "benign" "" "0000435547" "0" "55" "3" "122003757" "122003757" "subst" "0.12923" "00000" "CASR_000017" "g.122003757G>T" "" "{PMID:Jack 2009:19694204}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284910G>T" "" "VUS" "" "0000435548" "0" "95" "3" "122003764" "122003764" "subst" "0" "00000" "CASR_000141" "g.122003764C>G" "" "{PMID:Kapoor 2008:18756473}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284917C>G" "" "pathogenic" "" "0000435549" "0" "95" "3" "122003764" "122003764" "subst" "1.21837E-5" "00000" "CASR_000140" "g.122003764C>T" "" "{PMID:Kapoor 2008:18756473}" "" "2963G>T" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284917C>T" "" "pathogenic" "" "0000435550" "0" "95" "3" "122003764" "122003764" "subst" "1.21837E-5" "00000" "CASR_000140" "g.122003764C>T" "" "{PMID:Kapoor 2008:18756473}" "" "2963G>T" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284917C>T" "" "pathogenic" "" "0000435551" "0" "15" "3" "122003769" "122003769" "subst" "0.150325" "00000" "CASR_000012" "g.122003769A>G" "" "{PMID:Heath 1996:08636323}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284922A>G" "" "benign" "" "0000435552" "0" "55" "3" "122003769" "122003769" "subst" "0.150325" "00000" "CASR_000012" "g.122003769A>G" "" "{PMID:Peters 2004:15598778}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284922A>G" "" "VUS" "" "0000435553" "0" "95" "3" "122003781" "122003781" "subst" "0" "00000" "CASR_000187" "g.122003781C>T" "" "Christie 2002" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284934C>T" "" "pathogenic" "" "0000435554" "0" "95" "3" "122003814" "122003814" "subst" "5.28133E-5" "00000" "CASR_000146" "g.122003814G>A" "" "{PMID:Rus 2008:18796518}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122284967G>A" "" "pathogenic" "" "0000435555" "0" "15" "3" "122003832" "122003832" "subst" "0" "00000" "CASR_000018" "g.122003832C>G" "" "{PMID:Heath 1996:08636323}" "" "" "{CASRdb}\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "benign" "" "0000435556" "0" "55" "3" "122003832" "122003832" "subst" "0" "00000" "CASR_000018" "g.122003832C>G" "" "{PMID:Scillitani 2004:15531522}" "" "" "{CASRdb}\r\nVariant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000435557" "0" "95" "3" "122003994" "122003994" "del" "0" "00000" "CASR_000235" "g.122003994del" "" "{PMID:Yabuta 2009:19423460}" "" "" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122285147del" "" "pathogenic" "" "0000435558" "0" "95" "3" "122004036" "122004036" "subst" "0" "00000" "CASR_000174" "g.122004036T>C" "" "{PMID:Guarnieri 2010:20164288}" "" "(*1079Qext*1087)" "{CASRdb}" "Germline" "" "" "0" "" "" "g.122285189T>C" "" "pathogenic" "" "0000478199" "0" "70" "3" "122003070" "122003070" "subst" "0" "03293" "CASR_000279" "g.122003070G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.122284223G>A" "" "likely pathogenic" "" "0000517518" "0" "30" "3" "121902549" "121902549" "subst" "0" "02327" "CASR_000280" "g.121902549G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122183702G>A" "" "likely benign" "" "0000517519" "0" "10" "3" "121903195" "121903195" "subst" "0" "02327" "CASR_000281" "g.121903195C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122184348C>G" "" "benign" "" "0000517520" "0" "10" "3" "121903266" "121903266" "subst" "0" "02327" "CASR_000282" "g.121903266G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122184419G>A" "" "benign" "" "0000517521" "0" "70" "3" "121973097" "121973097" "subst" "0" "02327" "CASR_000131" "g.121973097G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122254250G>A" "" "likely pathogenic" "" "0000517522" "0" "90" "3" "121973109" "121973109" "subst" "8.12704E-6" "02326" "CASR_000109" "g.121973109C>T" "" "" "" "CASR(NM_000388.3):c.73C>T (p.(Arg25Ter)), CASR(NM_001178065.2):c.73C>T (p.R25*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122254262C>T" "" "pathogenic" "" "0000517523" "0" "50" "3" "121973182" "121973182" "subst" "4.06577E-6" "01943" "CASR_000283" "g.121973182A>G" "" "" "" "CASR(NM_001178065.1):c.146A>G (p.Q49R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122254335A>G" "" "VUS" "" "0000517524" "0" "90" "3" "121976092" "121976092" "subst" "0" "02327" "CASR_000284" "g.121976092A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122257245A>G" "" "pathogenic" "" "0000517525" "0" "70" "3" "121976155" "121976155" "subst" "0" "02327" "CASR_000004" "g.121976155C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122257308C>T" "" "likely pathogenic" "" "0000517526" "0" "70" "3" "121980534" "121980534" "subst" "0" "02327" "CASR_000285" "g.121980534T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122261687T>C" "" "likely pathogenic" "" "0000517527" "0" "50" "3" "121980583" "121980583" "subst" "0" "02327" "CASR_000286" "g.121980583A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122261736A>G" "" "VUS" "" "0000517528" "0" "30" "3" "121980630" "121980630" "subst" "0.00150746" "01943" "CASR_000068" "g.121980630G>A" "" "" "" "CASR(NM_000388.3):c.748G>A (p.(Glu250Lys)), CASR(NM_001178065.1):c.748G>A (p.E250K), CASR(NM_001178065.2):c.748G>A (p.E250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122261783G>A" "" "likely benign" "" "0000517529" "0" "90" "3" "121980685" "121980685" "del" "0" "02327" "CASR_000287" "g.121980685del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122261838del" "" "pathogenic" "" "0000517530" "0" "50" "3" "121980733" "121980733" "subst" "0" "01943" "CASR_000288" "g.121980733T>C" "" "" "" "CASR(NM_001178065.1):c.851T>C (p.V284A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122261886T>C" "" "VUS" "" "0000517531" "0" "50" "3" "121980771" "121980771" "subst" "0" "02327" "CASR_000289" "g.121980771G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122261924G>C" "" "VUS" "" "0000517532" "0" "90" "3" "121981056" "121981056" "subst" "0" "02325" "CASR_000202" "g.121981056C>T" "" "" "" "CASR(NM_001178065.1):c.1174C>T (p.R392*), CASR(NM_001178065.2):c.1174C>T (p.R392*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122262209C>T" "" "pathogenic" "" "0000517533" "0" "70" "3" "121994806" "121994806" "subst" "8.12262E-6" "02327" "CASR_000133" "g.121994806G>A" "" "" "" "CASR(NM_000388.4):c.1525G>A (p.G509R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122275959G>A" "" "likely pathogenic" "" "0000517534" "0" "10" "3" "122002553" "122002553" "subst" "0.000105619" "02327" "CASR_000292" "g.122002553G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122283706G>A" "" "benign" "" "0000517535" "0" "30" "3" "122002576" "122002576" "subst" "0.00344797" "02326" "CASR_000293" "g.122002576A>G" "" "" "" "CASR(NM_000388.3):c.1775A>G (p.(Asn592Ser)), CASR(NM_000388.4):c.1775A>G (p.N592S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122283729A>G" "" "likely benign" "" "0000517536" "0" "50" "3" "122002764" "122002764" "subst" "0" "01943" "CASR_000294" "g.122002764C>T" "" "" "" "CASR(NM_001178065.1):c.1993C>T (p.L665F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122283917C>T" "" "VUS" "" "0000517537" "0" "50" "3" "122003044" "122003044" "subst" "0" "02327" "CASR_000154" "g.122003044C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122284197C>A" "" "VUS" "" "0000608229" "0" "50" "3" "121973145" "121973145" "subst" "0" "02327" "CASR_000295" "g.121973145C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122254298C>T" "" "VUS" "" "0000608230" "0" "30" "3" "121981081" "121981081" "subst" "2.8431E-5" "01804" "CASR_000296" "g.121981081A>T" "" "" "" "CASR(NM_000388.3):c.1199A>T (p.(Asn400Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122262234A>T" "" "likely benign" "" "0000621158" "0" "30" "3" "121981220" "121981220" "subst" "4.0871E-6" "01943" "CASR_000297" "g.121981220T>C" "" "" "" "CASR(NM_001178065.1):c.1338T>C (p.N446=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122262373T>C" "" "likely benign" "" "0000651044" "1" "30" "3" "122002576" "122002576" "subst" "0.00344797" "03575" "CASR_000293" "g.122002576A>G" "1/2791 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs117375173}" "Germline" "" "rs117375173" "0" "" "" "g.122283729A>G" "" "likely benign" "" "0000651045" "1" "50" "3" "122003494" "122003494" "subst" "3.25616E-5" "03575" "CASR_000139" "g.122003494G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs121909269}" "Germline" "" "rs121909269" "0" "" "" "g.122284647G>A" "" "VUS" "" "0000654768" "0" "30" "3" "121902623" "121902623" "subst" "0" "02327" "CASR_000298" "g.121902623G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122183776G>A" "" "likely benign" "" "0000654769" "0" "90" "3" "121981056" "121981056" "subst" "0" "01943" "CASR_000202" "g.121981056C>T" "" "" "" "CASR(NM_001178065.1):c.1174C>T (p.R392*), CASR(NM_001178065.2):c.1174C>T (p.R392*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.122262209C>T" "" "pathogenic" "" "0000676791" "0" "30" "3" "121976019" "121976019" "subst" "4.0624E-6" "02327" "CASR_000299" "g.121976019C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000676792" "0" "50" "3" "121981216" "121981216" "subst" "0" "02325" "CASR_000300" "g.121981216C>A" "" "" "" "CASR(NM_000388.4):c.1334C>A (p.T445N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000676793" "0" "30" "3" "122003638" "122003640" "dup" "0" "02325" "CASR_000301" "g.122003638_122003640dup" "" "" "" "CASR(NM_000388.4):c.2837_2839dupAGC (p.Q946dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000688900" "0" "50" "3" "122002662" "122002662" "subst" "2.84264E-5" "02325" "CASR_000302" "g.122002662G>A" "" "" "" "CASR(NM_000388.4):c.1861G>A (p.V621M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000719140" "0" "70" "3" "121975948" "121975948" "subst" "0" "02327" "CASR_000217" "g.121975948G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000719141" "0" "30" "3" "121994791" "121994791" "subst" "3.24876E-5" "01804" "CASR_000303" "g.121994791G>A" "" "" "" "CASR(NM_000388.3):c.1510G>A (p.(Val504Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719142" "0" "30" "3" "122002576" "122002576" "subst" "0.00344797" "01804" "CASR_000293" "g.122002576A>G" "" "" "" "CASR(NM_000388.3):c.1775A>G (p.(Asn592Ser)), CASR(NM_000388.4):c.1775A>G (p.N592S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000719143" "0" "10" "3" "122003411" "122003411" "subst" "0.0103944" "02327" "CASR_000304" "g.122003411G>A" "" "" "" "CASR(NM_000388.3):c.2610G>A (p.(Glu870=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000719144" "0" "10" "3" "122003625" "122003625" "subst" "0.000894433" "02327" "CASR_000210" "g.122003625G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800915" "0" "10" "3" "121980419" "121980419" "subst" "0.000873877" "02327" "CASR_000305" "g.121980419A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000800916" "0" "50" "3" "121981126" "121981126" "subst" "4.06207E-6" "02325" "CASR_000259" "g.121981126G>A" "" "" "" "CASR(NM_000388.4):c.1244G>A (p.R415Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000800917" "0" "50" "3" "121981207" "121981207" "subst" "0" "02327" "CASR_000306" "g.121981207G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850094" "0" "50" "3" "121975975" "121975975" "subst" "0" "02327" "CASR_000307" "g.121975975T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850095" "0" "50" "3" "122002912" "122002912" "subst" "0" "02327" "CASR_000310" "g.122002912T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850096" "0" "50" "3" "122003416" "122003416" "subst" "0" "02327" "CASR_000311" "g.122003416T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850097" "0" "50" "3" "122003438" "122003438" "subst" "0" "02326" "CASR_000312" "g.122003438C>G" "" "" "" "CASR(NM_000388.4):c.2637C>G (p.H879Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000850098" "0" "50" "3" "122003578" "122003578" "subst" "0.000109816" "01943" "CASR_000145" "g.122003578A>G" "" "" "" "CASR(NM_001178065.1):c.2807A>G (p.Q936R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858761" "0" "50" "3" "121976050" "121976050" "subst" "8.12401E-6" "01804" "CASR_000308" "g.121976050C>T" "" "" "" "CASR(NM_000388.3):c.308C>T (p.(Thr103Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858762" "0" "50" "3" "121980486" "121980486" "subst" "0" "02327" "CASR_000309" "g.121980486G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858763" "0" "50" "3" "122003928" "122003928" "subst" "0" "01804" "CASR_000313" "g.122003928G>A" "" "" "" "CASR(NM_000388.3):c.3127G>A (p.(Glu1043Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858764" "0" "50" "3" "122003976" "122003976" "subst" "0" "01804" "CASR_000314" "g.122003976T>C" "" "" "" "CASR(NM_000388.3):c.3175T>C (p.(Ser1059Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000881179" "0" "70" "3" "122003307" "122003307" "subst" "0" "02300" "CASR_000315" "g.122003307G>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM2, PP2, PP3, PP4, PP5" "Germline/De novo (untested)" "" "" "0" "" "" "g.122284460G>T" "" "likely pathogenic (dominant)" "ACMG" "0000885495" "0" "50" "3" "121976254" "121976254" "subst" "8.25341E-6" "02327" "CASR_000316" "g.121976254C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885496" "0" "30" "3" "121980821" "121980821" "subst" "1.21999E-5" "02327" "CASR_000317" "g.121980821G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885497" "0" "50" "3" "121981014" "121981014" "subst" "0" "02325" "CASR_000318" "g.121981014G>A" "" "" "" "CASR(NM_000388.4):c.1132G>A (p.E378K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885498" "0" "50" "3" "121981252" "121981252" "subst" "0" "02325" "CASR_000319" "g.121981252C>T" "" "" "" "CASR(NM_000388.4):c.1370C>T (p.A457V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885499" "0" "70" "3" "121994806" "121994806" "subst" "8.12262E-6" "02325" "CASR_000133" "g.121994806G>A" "" "" "" "CASR(NM_000388.4):c.1525G>A (p.G509R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000885500" "0" "50" "3" "122002644" "122002644" "subst" "0" "02327" "CASR_000320" "g.122002644G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885501" "0" "50" "3" "122002678" "122002678" "subst" "0" "02327" "CASR_000321" "g.122002678T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000885502" "0" "90" "3" "122002890" "122002890" "subst" "0" "02327" "CASR_000232" "g.122002890G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000885503" "0" "30" "3" "122003702" "122003702" "subst" "0.000263955" "02326" "CASR_000322" "g.122003702C>A" "" "" "" "CASR(NM_000388.4):c.2901C>A (p.I967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000885504" "0" "50" "3" "122003856" "122003856" "subst" "4.06088E-6" "01804" "CASR_000323" "g.122003856G>A" "" "" "" "CASR(NM_000388.3):c.3055G>A (p.(Gly1019Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911806" "0" "70" "3" "122000977" "122000977" "subst" "0" "02327" "CASR_000325" "g.122000977C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000923813" "0" "10" "3" "121980455" "121980455" "subst" "0.00193947" "02327" "CASR_000254" "g.121980455G>A" "" "" "" "CASR(NM_000388.3):c.573G>A (p.(Glu191=)), CASR(NM_001178065.2):c.573G>A (p.E191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000928687" "0" "90" "3" "121980562" "121980562" "subst" "4.06967E-6" "02327" "CASR_000006" "g.121980562G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000928688" "0" "30" "3" "121981074" "121981074" "subst" "0.000572724" "02326" "CASR_000326" "g.121981074G>A" "" "" "" "CASR(NM_000388.4):c.1192G>A (p.D398N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000928689" "0" "50" "3" "122003341" "122003341" "subst" "0" "02327" "CASR_000327" "g.122003341G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000936008" "0" "70" "3" "122003826" "122003826" "subst" "4.06289E-6" "00006" "CASR_000328" "g.122003826C>T" "" "{PMID:Chuan 2022:35571021}" "" "NM_001178065.2:c.3025C>T" "ACMG PM1,PM2,PP3,PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.122284979C>T" "" "likely pathogenic (dominant)" "ACMG" "0000947992" "0" "70" "3" "121975938" "121975938" "subst" "0" "02327" "CASR_000003" "g.121975938C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947993" "0" "50" "3" "121980613" "121980613" "subst" "0" "02327" "CASR_000329" "g.121980613C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947994" "0" "30" "3" "121980630" "121980630" "subst" "0.00150746" "01804" "CASR_000068" "g.121980630G>A" "" "" "" "CASR(NM_000388.3):c.748G>A (p.(Glu250Lys)), CASR(NM_001178065.1):c.748G>A (p.E250K), CASR(NM_001178065.2):c.748G>A (p.E250K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000947995" "0" "50" "3" "121980819" "121980819" "subst" "8.13339E-6" "02326" "CASR_000330" "g.121980819G>A" "" "" "" "CASR(NM_000388.3):c.937G>A (p.(Val313Met)), CASR(NM_000388.4):c.937G>A (p.V313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947996" "0" "70" "3" "121994674" "121994674" "subst" "1.2193E-5" "02327" "CASR_000181" "g.121994674C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947997" "0" "70" "3" "122002809" "122002809" "subst" "0" "01804" "CASR_000022" "g.122002809G>A" "" "" "" "CASR(NM_000388.3):c.2008G>A (p.(Gly670Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000947998" "0" "50" "3" "122003350" "122003350" "subst" "4.07256E-6" "01804" "CASR_000331" "g.122003350C>A" "" "" "" "CASR(NM_000388.3):c.2549C>A (p.(Ala850Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000947999" "0" "50" "3" "122003353" "122003353" "subst" "0" "02325" "CASR_000332" "g.122003353G>C" "" "" "" "CASR(NM_000388.4):c.2552G>C (p.C851S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000952601" "0" "90" "3" "121980769" "121980769" "subst" "0" "03779" "CASR_000201" "g.121980769G>A" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "pathogenic" "" "0000955411" "10" "90" "3" "121980439" "121980439" "subst" "0" "04626" "CASR_000333" "g.121980439C>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.122261592C>A" "" "pathogenic (dominant)" "" "0000962433" "0" "10" "3" "121973114" "121973114" "subst" "0.00423787" "02326" "CASR_000246" "g.121973114C>G" "" "" "" "CASR(NM_000388.4):c.78C>G (p.A26=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000962434" "0" "50" "3" "121980529" "121980529" "subst" "0" "02327" "CASR_000334" "g.121980529A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000962436" "0" "70" "3" "122002611" "122002611" "subst" "0" "02327" "CASR_000079" "g.122002611G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000962437" "0" "50" "3" "122003530" "122003530" "subst" "4.07183E-6" "02327" "CASR_000335" "g.122003530C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000975511" "0" "50" "3" "122003814" "122003814" "subst" "5.28133E-5" "01804" "CASR_000146" "g.122003814G>A" "" "" "" "CASR(NM_000388.3):c.3013G>A (p.(Asp1005Asn)), CASR(NM_001178065.2):c.3043G>A (p.D1015N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993190" "0" "30" "3" "121973150" "121973150" "subst" "4.87654E-5" "02327" "CASR_000338" "g.121973150T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993191" "0" "30" "3" "121980819" "121980819" "subst" "8.13339E-6" "01804" "CASR_000330" "g.121980819G>A" "" "" "" "CASR(NM_000388.3):c.937G>A (p.(Val313Met)), CASR(NM_000388.4):c.937G>A (p.V313M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000993192" "0" "50" "3" "121981219" "121981219" "subst" "0" "01804" "CASR_000339" "g.121981219A>G" "" "" "" "CASR(NM_000388.3):c.1337A>G (p.(Asn446Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000993193" "0" "90" "3" "122000982" "122000982" "subst" "0.000885207" "01804" "CASR_000340" "g.122000982G>A" "" "" "" "CASR(NM_000388.3):c.1631G>A (p.(Arg544Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013801" "0" "30" "3" "121980455" "121980455" "subst" "0.00193947" "01804" "CASR_000254" "g.121980455G>A" "" "" "" "CASR(NM_000388.3):c.573G>A (p.(Glu191=)), CASR(NM_001178065.2):c.573G>A (p.E191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001013802" "0" "50" "3" "121980798" "121980798" "subst" "0" "01804" "CASR_000341" "g.121980798G>A" "" "" "" "CASR(NM_000388.3):c.916G>A (p.(Ala306Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001013803" "0" "30" "3" "121994757" "121994757" "subst" "0" "01804" "CASR_000342" "g.121994757C>T" "" "" "" "CASR(NM_000388.3):c.1476C>T (p.(Ile492=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001024707" "0" "90" "3" "122001069" "122001069" "subst" "0" "01804" "CASR_000343" "g.122001069A>G" "" "" "" "CASR(NM_000388.3):c.1718A>G (p.(Tyr573Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024708" "0" "90" "3" "122002840" "122002840" "subst" "4.06626E-6" "01804" "CASR_000165" "g.122002840G>A" "" "" "" "CASR(NM_000388.3):c.2039G>A (p.(Arg680His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001024709" "0" "50" "3" "122003206" "122003206" "subst" "1.21874E-5" "01804" "CASR_000344" "g.122003206A>G" "" "" "" "CASR(NM_000388.3):c.2405A>G (p.(Asn802Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001024710" "0" "10" "3" "122003411" "122003411" "subst" "0.0103944" "01804" "CASR_000304" "g.122003411G>A" "" "" "" "CASR(NM_000388.3):c.2610G>A (p.(Glu870=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001033595" "0" "90" "3" "121973109" "121973109" "subst" "8.12704E-6" "01804" "CASR_000109" "g.121973109C>T" "" "" "" "CASR(NM_000388.3):c.73C>T (p.(Arg25Ter)), CASR(NM_001178065.2):c.73C>T (p.R25*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001033596" "0" "30" "3" "121973111" "121973111" "subst" "4.06312E-6" "01804" "CASR_000345" "g.121973111A>C" "" "" "" "CASR(NM_000388.3):c.75A>C (p.(Arg25=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033597" "0" "50" "3" "121976222" "121976222" "subst" "0" "01804" "CASR_000346" "g.121976222C>G" "" "" "" "CASR(NM_000388.3):c.480C>G (p.(Phe160Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033598" "0" "50" "3" "121980687" "121980687" "subst" "0" "01804" "CASR_000347" "g.121980687G>T" "" "" "" "CASR(NM_000388.4):c.805G>T (p.(Val269Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033599" "0" "50" "3" "122001027" "122001027" "subst" "0" "01804" "CASR_000348" "g.122001027C>A" "" "" "" "CASR(NM_000388.3):c.1676C>A (p.(Pro559His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033600" "0" "50" "3" "122001036" "122001036" "subst" "0" "01804" "CASR_000349" "g.122001036G>T" "" "" "" "CASR(NM_000388.3):c.1685G>T (p.(Cys562Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033601" "0" "50" "3" "122002996" "122002996" "subst" "0" "01804" "CASR_000350" "g.122002996C>A" "" "" "" "CASR(NM_000388.4):c.2195C>A (p.(Thr732Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033602" "0" "50" "3" "122003386" "122003386" "subst" "0.000121971" "01804" "CASR_000351" "g.122003386T>C" "" "" "" "CASR(NM_000388.4):c.2585T>C (p.(Phe862Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033603" "0" "50" "3" "122003562" "122003562" "subst" "0" "01804" "CASR_000352" "g.122003562G>C" "" "" "" "CASR(NM_000388.4):c.2761G>C (p.(Glu921Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001033604" "0" "30" "3" "122003667" "122003667" "subst" "0" "01804" "CASR_000353" "g.122003667T>G" "" "" "" "CASR(NM_000388.4):c.2866T>G (p.(Ser956Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001033605" "0" "50" "3" "122003716" "122003716" "subst" "4.46722E-5" "01804" "CASR_000354" "g.122003716C>T" "" "" "" "CASR(NM_000388.4):c.2915C>T (p.(Thr972Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001045868" "0" "30" "3" "121981265" "121981265" "subst" "4.17404E-6" "01804" "CASR_000355" "g.121981265T>C" "" "" "" "CASR(NM_000388.3):c.1377+6T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001045869" "0" "70" "3" "122002547" "122002547" "dup" "0" "01804" "CASR_000110" "g.122002547dup" "" "" "" "CASR(NM_000388.3):c.1746dup (p.(Asn583Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001048420" "0" "70" "3" "121980534" "121980534" "subst" "0" "03779" "CASR_000285" "g.121980534T>C" "" "" "" "" "" "Unknown" "" "rs1057520583" "0" "" "" "" "" "likely pathogenic" "" "0001049093" "0" "10" "3" "121994941" "121994941" "subst" "0" "03779" "CASR_000356" "g.121994941G>A" "" "" "" "" "" "Unknown" "" "rs2279802" "0" "" "" "" "" "benign" "" "0001049094" "0" "30" "3" "122003769" "122003769" "subst" "0.150325" "03779" "CASR_000012" "g.122003769A>G" "" "" "" "" "" "Unknown" "" "rs1042636" "0" "" "" "" "" "likely benign" "" "0001049095" "0" "30" "3" "122003769" "122003769" "subst" "0.150325" "03779" "CASR_000012" "g.122003769A>G" "" "" "" "" "" "Unknown" "" "rs1042636" "0" "" "" "" "" "likely benign" "" "0001051457" "0" "70" "3" "121980436" "121980436" "subst" "0" "01804" "CASR_000357" "g.121980436G>T" "" "" "" "CASR(NM_000388.3):c.554G>T (p.(Arg185Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051458" "0" "50" "3" "121980873" "121980873" "subst" "0" "01804" "CASR_000358" "g.121980873C>T" "" "" "" "CASR(NM_000388.4):c.991C>T (p.(Arg331Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051459" "0" "50" "3" "121981263" "121981263" "subst" "0" "01804" "CASR_000359" "g.121981263C>T" "" "" "" "CASR(NM_000388.4):c.1377+4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051460" "0" "50" "3" "122000973" "122000973" "subst" "1.21819E-5" "01804" "CASR_000291" "g.122000973A>G" "" "" "" "CASR(NM_000388.4):c.1622A>G (p.(Asn541Ser)), CASR(NM_001178065.1):c.1652A>G (p.N551S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051461" "0" "50" "3" "122001051" "122001051" "subst" "0" "01804" "CASR_000360" "g.122001051A>G" "" "" "" "CASR(NM_000388.4):c.1700A>G (p.(Glu567Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051462" "0" "70" "3" "122003173" "122003173" "subst" "0" "01804" "CASR_000361" "g.122003173C>T" "" "" "" "CASR(NM_000388.4):c.2372C>T (p.(Ala791Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001051463" "0" "50" "3" "122003488" "122003488" "subst" "8.13928E-6" "01804" "CASR_000103" "g.122003488G>A" "" "" "" "CASR(NM_000388.4):c.2687G>A (p.(Arg896His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001051464" "0" "50" "3" "122004021" "122004021" "subst" "1.63562E-5" "01804" "CASR_000277" "g.122004021A>G" "" "" "" "CASR(NM_000388.4):c.3220A>G (p.(Asn1074Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 CASR ## Count = 512 "{{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}}" "{{VariantOnTranscript/Protein/Domain}}" "0000251158" "00004393" "10" "1333" "0" "1333" "0" "c.1333A>G" "r.(?)" "p.(Thr445Ala)" "" "" "0000251297" "00004393" "10" "3297" "0" "3297" "0" "c.*60A>T" "r.(=)" "p.(=)" "" "" "0000256400" "00004393" "50" "1622" "0" "1622" "0" "c.1622A>G" "r.(?)" "p.(Asn541Ser)" "" "" "0000266490" "00004393" "10" "2244" "0" "2244" "0" "c.2244=" "r.(=)" "p.(Pro748=)" "" "" "0000266491" "00004393" "10" "2956" "0" "2956" "0" "c.2956G>T" "r.(?)" "p.(Ala986Ser)" "" "" "0000266492" "00004393" "30" "2973" "0" "2973" "0" "c.2973T>C" "r.(?)" "p.(Asn991=)" "" "" "0000266493" "00004393" "10" "3031" "0" "3031" "0" "c.3031=" "r.(=)" "p.(Gln1011=)" "" "" "0000266494" "00004393" "10" "492" "19" "492" "19" "c.492+19G>A" "r.(=)" "p.(=)" "" "" "0000269793" "00004393" "30" "1205" "0" "1205" "0" "c.1205G>A" "r.(?)" "p.(Ser402Asn)" "" "" "0000269794" "00004393" "30" "1285" "0" "1285" "0" "c.1285C>T" "r.(?)" "p.(His429Tyr)" "" "" "0000269795" "00004393" "10" "1609" "-89" "1609" "-89" "c.1609-89C>T" "r.(=)" "p.(=)" "" "" "0000269796" "00004393" "10" "2244" "0" "2244" "0" "c.2244=" "r.(=)" "p.(Pro748=)" "" "" "0000269797" "00004393" "10" "2956" "0" "2956" "0" "c.2956G>T" "r.(?)" "p.(Ala986Ser)" "" "" "0000269798" "00004393" "30" "3013" "0" "3013" "0" "c.3013G>A" "r.(?)" "p.(Asp1005Asn)" "" "" "0000269799" "00004393" "10" "3031" "0" "3031" "0" "c.3031=" "r.(=)" "p.(Gln1011=)" "" "" "0000269800" "00004393" "10" "492" "19" "492" "19" "c.492+19G>A" "r.(=)" "p.(=)" "" "" "0000269801" "00004393" "10" "493" "-133" "493" "-133" "c.493-133T>C" "r.(=)" "p.(=)" "" "" "0000269802" "00004393" "30" "493" "-232" "493" "-232" "c.493-232T>C" "r.(=)" "p.(=)" "" "" "0000269803" "00004393" "10" "493" "-91" "493" "-91" "c.493-91C>T" "r.(=)" "p.(=)" "" "" "0000269804" "00004393" "30" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Glu191=)" "" "" "0000269805" "00004393" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "" "0000272668" "00004393" "30" "1785" "0" "1785" "0" "c.1785C>T" "r.(?)" "p.(His595=)" "" "" "0000337056" "00004393" "10" "492" "19" "492" "19" "c.492+19G>A" "r.(=)" "p.(=)" "" "" "0000337057" "00004393" "10" "1732" "16" "1732" "16" "c.1732+16T>C" "r.(=)" "p.(=)" "" "" "0000340637" "00004393" "10" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Ala26=)" "" "" "0000341032" "00004393" "30" "2916" "0" "2916" "0" "c.2916G>A" "r.(?)" "p.(Thr972=)" "" "" "0000341321" "00004393" "50" "77" "0" "77" "0" "c.77C>T" "r.(?)" "p.(Ala26Val)" "" "" "0000341646" "00004393" "10" "2956" "0" "2956" "0" "c.2956G>T" "r.(?)" "p.(Ala986Ser)" "" "" "0000342130" "00004393" "90" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185Gln)" "" "" "0000342414" "00004393" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25Ter)" "" "" "0000342795" "00004393" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Ter)" "" "" "0000342855" "00004393" "70" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "" "0000342948" "00004393" "90" "1394" "0" "1394" "0" "c.1394G>A" "r.(?)" "p.(Arg465Gln)" "" "" "0000343255" "00004393" "90" "2038" "0" "2038" "0" "c.2038C>T" "r.(?)" "p.(Arg680Cys)" "" "" "0000343373" "00004393" "90" "2383" "0" "2383" "0" "c.2383C>T" "r.(?)" "p.(Arg795Trp)" "" "" "0000343558" "00004393" "30" "3220" "0" "3220" "0" "c.3220A>G" "r.(?)" "p.(Asn1074Asp)" "" "" "0000343588" "00004393" "90" "388" "0" "393" "0" "c.388_393del" "r.(?)" "p.(Asn130_Cys131del)" "" "" "0000344037" "00004393" "50" "825" "0" "825" "0" "c.825T>A" "r.(?)" "p.(Asp275Glu)" "" "" "0000344394" "00004393" "50" "1345" "0" "1345" "0" "c.1345T>C" "r.(?)" "p.(Cys449Arg)" "" "" "0000344395" "00004393" "70" "1345" "0" "1345" "0" "c.1345T>A" "r.(?)" "p.(Cys449Ser)" "" "" "0000344429" "00004393" "70" "1745" "0" "1745" "0" "c.1745G>C" "r.(?)" "p.(Cys582Ser)" "" "" "0000344430" "00004393" "90" "1745" "0" "1745" "0" "c.1745G>A" "r.(?)" "p.(Cys582Tyr)" "" "" "0000344481" "00004393" "30" "3031" "0" "3031" "0" "c.3031=" "r.(=)" "p.(Gln1011=)" "" "" "0000345756" "00004393" "50" "472" "0" "472" "0" "c.472G>C" "r.(?)" "p.(Gly158Arg)" "" "" "0000346788" "00004393" "50" "2084" "0" "2084" "0" "c.2084T>G" "r.(?)" "p.(Ile695Ser)" "" "" "0000346922" "00004393" "70" "476" "0" "476" "0" "c.476T>G" "r.(?)" "p.(Leu159Arg)" "" "" "0000347524" "00004393" "90" "967" "0" "967" "0" "c.967A>T" "r.(?)" "p.(Lys323Ter)" "" "" "0000348227" "00004393" "50" "488" "0" "488" "0" "c.488C>G" "r.(?)" "p.(Pro163Arg)" "" "" "0000348504" "00004393" "90" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(Pro55Leu)" "" "" "0000348707" "00004393" "70" "409" "0" "409" "0" "c.409T>C" "r.(?)" "p.(Ser137Pro)" "" "" "0000349283" "00004393" "70" "412" "0" "412" "0" "c.412A>C" "r.(?)" "p.(Thr138Pro)" "" "" "0000349520" "00004393" "10" "1333" "0" "1333" "0" "c.1333A>G" "r.(?)" "p.(Thr445Ala)" "" "" "0000349812" "00004393" "50" "1480" "0" "1480" "0" "c.1480T>C" "r.(?)" "p.(Trp494Arg)" "" "" "0000349822" "00004393" "70" "1588" "0" "1588" "0" "c.1588T>C" "r.(?)" "p.(Trp530Arg)" "" "" "0000435218" "00004393" "95" "-10" "0" "-10" "0" "c.-10C>T" "r.(?)" "p.(=)" "2" "5\'UTR " "0000435219" "00004393" "95" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.0?" "2" "SP " "0000435220" "00004393" "95" "19" "0" "19" "0" "c.19dup" "r.(?)" "p.(Cys7LeufsTer41)" "2" "" "0000435221" "00004393" "95" "19" "0" "19" "0" "c.19dup" "r.(?)" "p.(Cys7LeufsTer41)" "2" "SP " "0000435222" "00004393" "95" "32" "0" "32" "0" "c.32T>C" "r.(?)" "p.(L11S)" "2" "SP " "0000435223" "00004393" "95" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(L13P)" "2" "SP " "0000435224" "00004393" "95" "38" "0" "38" "0" "c.38T>C" "r.(?)" "p.(L13P)" "2" "SP " "0000435225" "00004393" "15" "40" "0" "40" "0" "c.40A>G" "r.(?)" "p.(T14A)" "2" "SP " "0000435226" "00004393" "15" "60" "0" "60" "0" "c.60C>T" "r.(?)" "p.(Y20H)" "2" "ECD " "0000435227" "00004393" "95" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(G21R)" "2" "ECD " "0000435228" "00004393" "95" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(R25*)" "2" "ECD " "0000435229" "00004393" "95" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(R25*)" "2" "ECD " "0000435230" "00004393" "95" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(R25*)" "2" "ECD " "0000435231" "00004393" "95" "80" "0" "80" "0" "c.80A>G" "r.(?)" "p.(Q27R)" "2" "ECD " "0000435232" "00004393" "95" "85" "0" "85" "0" "c.85A>G" "r.(?)" "p.(K29E)" "2" "ECD " "0000435233" "00004393" "95" "115" "0" "115" "0" "c.115C>G" "r.(?)" "p.(P39A)" "2" "ECD " "0000435234" "00004393" "95" "118" "0" "118" "0" "c.118A>T" "r.(?)" "p.(I40F)" "2" "ECD " "0000435235" "00004393" "95" "125" "0" "125" "0" "c.125T>G" "r.(?)" "p.(F42S)" "2" "ECD " "0000435236" "00004393" "95" "141" "0" "141" "0" "c.141A>C" "r.(?)" "p.(K47N)" "2" "ECD " "0000435237" "00004393" "95" "157" "0" "157" "0" "c.157T>C" "r.(?)" "p.(S53P)" "2" "ECD " "0000435238" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435239" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435240" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435241" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435242" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435243" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435244" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435245" "00004393" "95" "164" "0" "164" "0" "c.164C>T" "r.(?)" "p.(P55L)" "2" "ECD " "0000435246" "00004393" "95" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(C60F)" "2" "ECD " "0000435247" "00004393" "95" "179" "0" "179" "0" "c.179G>T" "r.(?)" "p.(C60F)" "2" "ECD " "0000435248" "00004393" "95" "185" "0" "185" "0" "c.185G>T" "r.(?)" "p.(R62M)" "2" "ECD " "0000435249" "00004393" "95" "185" "1" "185" "1" "c.185+1G>C" "r.spl" "p.?" "2i" "" "0000435250" "00004393" "95" "186" "-1" "186" "-1" "c.186-1G>T" "r.spl" "p.?" "2i" "" "0000435251" "00004393" "95" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(R66C)" "3" "ECD " "0000435252" "00004393" "95" "197" "0" "197" "0" "c.197G>A" "r.(?)" "p.(R66H)" "3" "ECD " "0000435253" "00004393" "95" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(R69H)" "3" "ECD " "0000435254" "00004393" "95" "243" "0" "243" "0" "c.243A>G" "r.(?)" "p.(I81M)" "3" "ECD " "0000435255" "00004393" "95" "280" "0" "280" "0" "c.280G>C" "r.(?)" "p.(G94R)" "3" "ECD " "0000435256" "00004393" "95" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(G94*)" "3" "ECD " "0000435257" "00004393" "95" "280" "0" "280" "0" "c.280G>T" "r.(?)" "p.(G94*)" "3" "ECD " "0000435258" "00004393" "95" "299" "0" "299" "0" "c.299C>T" "r.(?)" "p.(T100I)" "3" "ECD " "0000435259" "00004393" "95" "346" "0" "346" "0" "c.346G>A" "r.(?)" "p.(A116T)" "3" "ECD " "0000435260" "00004393" "95" "346" "0" "346" "0" "c.346G>C" "r.(?)" "p.(A116P)" "3" "ECD " "0000435261" "00004393" "95" "354" "0" "354" "0" "c.354C>A" "r.(?)" "p.(N118K)" "3" "ECD " "0000435262" "00004393" "95" "354" "0" "354" "0" "c.354C>G" "r.(?)" "p.(N118K)" "3" "ECD " "0000435263" "00004393" "95" "354" "0" "354" "0" "c.354C>G" "r.(?)" 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"p.(A826T)" "7" "TM6 " "0000435509" "00004393" "95" "2483" "0" "2483" "0" "c.2483C>A" "r.(?)" "p.(T828N)" "7" "ECL3 " "0000435510" "00004393" "95" "2488" "0" "2488" "0" "c.2488G>A" "r.(?)" "p.(G830S)" "7" "ECL3 " "0000435511" "00004393" "95" "2488" "0" "2488" "0" "c.2488G>A" "r.(?)" "p.(G830S)" "7" "" "0000435512" "00004393" "95" "2494" "0" "2494" "0" "c.2494T>C" "r.(?)" "p.(F832L)" "7" "ECL3 " "0000435513" "00004393" "95" "2495" "0" "2495" "0" "c.2495T>C" "r.(?)" "p.(F832S)" "7" "ECL3 " "0000435514" "00004393" "95" "2495" "0" "2495" "0" "c.2495T>C" "r.(?)" "p.(F832S)" "7" "ECL3 " "0000435515" "00004393" "95" "2501" "0" "2501" "0" "c.2501del" "r.(?)" "p.(Ser834LeufsTer3)" "7" "ECL3 " "0000435516" "00004393" "95" "2503" "0" "2503" "0" "c.2503G>A" "r.(?)" "p.(A835T)" "7" "ECL3 " "0000435517" "00004393" "95" "2506" "0" "2506" "0" "c.2506G>C" "r.(?)" "p.(V836L)" "7" "ECL3 " "0000435518" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435519" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435520" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435521" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435522" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435523" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435524" "00004393" "95" "2528" "0" "2528" "0" "c.2528C>A" "r.(?)" "p.(A843E)" "7" "TM7 " "0000435525" "00004393" "95" "2530" "0" "2530" "0" "c.2530G>A" "r.(?)" "p.(A844T)" "7" "TM7 " "0000435526" "00004393" "95" "2530" "0" "2530" "0" "c.2530G>A" "r.(?)" "p.(A844T)" "7" "" "0000435527" "00004393" "95" "2530" "0" "2530" "0" "c.2530G>C" "r.(?)" "p.(A844P)" "7" "" "0000435528" "00004393" "95" "2534" "0" "2534" "0" "c.2534G>A" "r.(?)" "p.(S845N)" "7" "TM7 " "0000435529" "00004393" "95" "2546" "0" "2546" "0" "c.2546T>C" "r.(?)" "p.(L849P)" "7" "TM7 " "0000435530" "00004393" "95" "2550" "0" "2551" "0" "c.2550_2551insCCAG" "r.(?)" "p.(A850ins/fs*981)" "7" "TM7 " "0000435531" "00004393" "15" "2551" "0" "2551" "0" "c.2551T>A" "r.(?)" "p.(C851S)" "7" "TM7 " "0000435532" "00004393" "15" "2551" "0" "2551" "0" "c.2551T>A" "r.(?)" "p.(C851S)" "7" "TM7 " "0000435533" "00004393" "15" "2551" "0" "2551" "0" "c.2551T>A" "r.(?)" "p.(C851S)" "7" "TM7 " "0000435534" "00004393" "95" "2627" "0" "2628" "0" "c.2627_2628insAlu" "r.(?)" "p.(T876Aluins)" "7" "ICD " "0000435535" "00004393" "95" "2641" "0" "2641" "0" "c.2641T>C" "r.(?)" "p.(F881L)" "7" "ICD " "0000435536" "00004393" "95" "2656" "0" "2656" "0" "c.2656C>T" "r.(?)" "p.(R886W)" "7" "ICD " "0000435537" "00004393" "95" "2657" "0" "2657" "0" "c.2657G>C" "r.(?)" "p.(R886P)" "7" "ICD " "0000435538" "00004393" "95" "2663" "0" "2663" "0" "c.2663C>T" "r.(?)" "p.(T888M)" "7" "" "0000435539" "00004393" "95" "2682" "0" "3224" "0" "c.2682_3224del" "r.(?)" "p.(S895_V1075del)" "7" "ICD " "0000435540" "00004393" "95" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(R896H)" "7" "ICD " "0000435541" "00004393" "95" "2691" "0" "2691" "0" "c.2691dup" "r.(?)" "p.(Arg898AlafsTer83)" "7" "ICD " "0000435542" "00004393" "95" "2693" "0" "2693" "0" "c.2693G>A" "r.(?)" "p.(R898Q)" "7" "ICD " "0000435543" "00004393" "95" "2777" "0" "2777" "0" "c.2777A>G" "r.(?)" "p.(Q926R)" "7" "ICD " "0000435544" "00004393" "95" "2788" "0" "2788" "0" "c.2788del" "r.(?)" "p.(Gln930ArgfsTer9)" "7" "ICD " "0000435545" "00004393" "95" "2824" "0" "2824" "0" "c.2824G>A" "r.(?)" "p.(E942K)" "7" "ICD " "0000435546" "00004393" "15" "2956" "0" "2956" "0" "c.2956G>T" "r.(?)" "p.(A986S)" "7" "ICD " "0000435547" "00004393" "55" "2956" "0" "2956" "0" "c.2956G>T" "r.(?)" "p.(A986S)" "7" "" "0000435548" "00004393" "95" "2963" "0" "2963" "0" "c.2963C>G" "r.(?)" "p.(A988G)" "7" "ICD " "0000435549" "00004393" "95" "2963" "0" "2963" "0" "c.2963C>T" "r.(?)" "p.(A988V)" "7" "ICD " "0000435550" "00004393" "95" "2963" "0" "2963" "0" "c.2963C>T" "r.(?)" "p.(A988V)" "7" "ICD " "0000435551" "00004393" "15" "2968" "0" "2968" "0" "c.2968A>G" "r.(?)" "p.(R990G)" "7" "ICD " "0000435552" "00004393" "55" "2968" "0" "2968" "0" "c.2968A>G" "r.(?)" "p.(R990G)" "7" "" "0000435553" "00004393" "95" "2980" "0" "2980" "0" "c.2980C>T" "r.(?)" "p.(H994Y)" "7" "ICD " "0000435554" "00004393" "95" "3013" "0" "3013" "0" "c.3013G>A" "r.(?)" "p.(D1005N)" "7" "ICD " "0000435555" "00004393" "15" "3031" "0" "3031" "0" "c.3031C>G" "r.(?)" "p.(Q1011E)" "7" "ICD " "0000435556" "00004393" "55" "3031" "0" "3031" "0" "c.3031C>G" "r.(?)" "p.(Q1011E)" "7" "" "0000435557" "00004393" "95" "3193" "0" "3193" "0" "c.3193del" "r.(?)" "p.(Ser1065ValfsTer11)" "7" "" "0000435558" "00004393" "95" "3235" "0" "3235" "0" "c.3235T>C" "r.(?)" "p.(*1079Glnext*8)" "7" "ICD " "0000478199" "00004393" "70" "2269" "0" "2269" "0" "c.2269G>A" "r.(?)" "p.(Glu757Lys)" "" "" "0000517518" "00004393" "30" "-353" "0" "-353" "0" "c.-353G>A" "r.(?)" "p.(=)" "" "" "0000517519" "00004393" "10" "-243" "536" "-243" "536" "c.-243+536C>G" "r.(=)" "p.(=)" "" "" "0000517520" "00004393" "10" "-243" "607" "-243" "607" "c.-243+607G>A" "r.(=)" "p.(=)" "" "" "0000517521" "00004393" "70" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Gly21Arg)" "" "" "0000517522" "00004393" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25Ter)" "" "" "0000517523" "00004393" "50" "146" "0" "146" "0" "c.146A>G" "r.(?)" "p.(Gln49Arg)" "" "" "0000517524" "00004393" "90" "350" "0" "350" "0" "c.350A>G" "r.(?)" "p.(Gln117Arg)" "" "" "0000517525" "00004393" "70" "413" "0" "413" "0" "c.413C>T" "r.(?)" "p.(Thr138Met)" "" "" "0000517526" "00004393" "70" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Tyr218His)" "" "" "0000517527" "00004393" "50" "701" "0" "701" "0" "c.701A>G" "r.(?)" "p.(Asp234Gly)" "" "" "0000517528" "00004393" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "" "0000517529" "00004393" "90" "803" "0" "803" "0" "c.803del" "r.(?)" "p.(Val268GlyfsTer37)" "" "" "0000517530" "00004393" "50" "851" "0" "851" "0" "c.851T>C" "r.(?)" "p.(Val284Ala)" "" "" "0000517531" "00004393" "50" "889" "0" "889" "0" "c.889G>C" "r.(?)" "p.(Glu297Gln)" "" "" "0000517532" "00004393" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Ter)" "" "" "0000517533" "00004393" "70" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Gly509Arg)" "" "" "0000517534" "00004393" "10" "1752" "0" "1752" "0" "c.1752G>A" "r.(?)" "p.(Lys584=)" "" "" "0000517535" "00004393" "30" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Asn592Ser)" "" "" "0000517536" "00004393" "50" "1963" "0" "1963" "0" "c.1963C>T" "r.(?)" "p.(Leu655Phe)" "" "" "0000517537" "00004393" "50" "2243" "0" "2243" "0" "c.2243C>A" "r.(?)" "p.(Pro748His)" "" "" "0000608229" "00004393" "50" "109" "0" "109" "0" "c.109C>T" "r.(?)" "p.(Leu37Phe)" "" "" "0000608230" "00004393" "30" "1199" "0" "1199" "0" "c.1199A>T" "r.(?)" "p.(Asn400Ile)" "" "" "0000621158" "00004393" "30" "1338" "0" "1338" "0" "c.1338T>C" "r.(?)" "p.(Asn446=)" "" "" "0000651044" "00004393" "30" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Asn592Ser)" "" "" "0000651045" "00004393" "50" "2693" "0" "2693" "0" "c.2693G>A" "r.(?)" "p.(Arg898Gln)" "" "" "0000654768" "00004393" "30" "-279" "0" "-279" "0" "c.-279G>A" "r.(?)" "p.(=)" "" "" "0000654769" "00004393" "90" "1174" "0" "1174" "0" "c.1174C>T" "r.(?)" "p.(Arg392Ter)" "" "" "0000676791" "00004393" "30" "277" "0" "277" "0" "c.277C>T" "r.(?)" "p.(Leu93=)" "" "" "0000676792" "00004393" "50" "1334" "0" "1334" "0" "c.1334C>A" "r.(?)" "p.(Thr445Asn)" "" "" "0000676793" "00004393" "30" "2837" "0" "2839" "0" "c.2837_2839dup" "r.(?)" "p.(Gln946dup)" "" "" "0000688900" "00004393" "50" "1861" "0" "1861" "0" "c.1861G>A" "r.(?)" "p.(Val621Met)" "" "" "0000719140" "00004393" "70" "206" "0" "206" "0" "c.206G>A" "r.(?)" "p.(Arg69His)" "" "" "0000719141" "00004393" "30" "1510" "0" "1510" "0" "c.1510G>A" "r.(?)" "p.(Val504Met)" "" "" "0000719142" "00004393" "30" "1775" "0" "1775" "0" "c.1775A>G" "r.(?)" "p.(Asn592Ser)" "" "" "0000719143" "00004393" "10" "2610" "0" "2610" "0" "c.2610G>A" "r.(?)" "p.(Glu870=)" "" "" "0000719144" "00004393" "10" "2824" "0" "2824" "0" "c.2824G>A" "r.(?)" "p.(Glu942Lys)" "" "" "0000800915" "00004393" "10" "537" "0" "537" "0" "c.537A>G" "r.(?)" "p.(Gln179=)" "" "" "0000800916" "00004393" "50" "1244" "0" "1244" "0" "c.1244G>A" "r.(?)" "p.(Arg415Gln)" "" "" "0000800917" "00004393" "50" "1325" "0" "1325" "0" "c.1325G>C" "r.(?)" "p.(Gly442Ala)" "" "" "0000850094" "00004393" "50" "233" "0" "233" "0" "c.233T>C" "r.(?)" "p.(Ile78Thr)" "" "" "0000850095" "00004393" "50" "2111" "0" "2111" "0" "c.2111T>C" "r.(?)" "p.(Leu704Pro)" "" "" "0000850096" "00004393" "50" "2615" "0" "2615" "0" "c.2615T>G" "r.(?)" "p.(Val872Gly)" "" "" "0000850097" "00004393" "50" "2637" "0" "2637" "0" "c.2637C>G" "r.(?)" "p.(His879Gln)" "" "" "0000850098" "00004393" "50" "2777" "0" "2777" "0" "c.2777A>G" "r.(?)" "p.(Gln926Arg)" "" "" "0000858761" "00004393" "50" "308" "0" "308" "0" "c.308C>T" "r.(?)" "p.(Thr103Ile)" "" "" "0000858762" "00004393" "50" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Glu202Lys)" "" "" "0000858763" "00004393" "50" "3127" "0" "3127" "0" "c.3127G>A" "r.(?)" "p.(Glu1043Lys)" "" "" "0000858764" "00004393" "50" "3175" "0" "3175" "0" "c.3175T>C" "r.(?)" "p.(Ser1059Pro)" "" "" "0000881179" "00004393" "70" "2536" "0" "2536" "0" "c.2536G>T" "r.(?)" "p.(Val846Leu)" "" "" "0000885495" "00004393" "50" "492" "20" "492" "20" "c.492+20C>T" "r.(=)" "p.(=)" "" "" "0000885496" "00004393" "30" "939" "0" "939" "0" "c.939G>A" "r.(?)" "p.(Val313=)" "" "" "0000885497" "00004393" "50" "1132" "0" "1132" "0" "c.1132G>A" "r.(?)" "p.(Glu378Lys)" "" "" "0000885498" "00004393" "50" "1370" "0" "1370" "0" "c.1370C>T" "r.(?)" "p.(Ala457Val)" "" "" "0000885499" "00004393" "70" "1525" "0" "1525" "0" "c.1525G>A" "r.(?)" "p.(Gly509Arg)" "" "" "0000885500" "00004393" "50" "1843" "0" "1843" "0" "c.1843G>C" "r.(?)" "p.(Ala615Pro)" "" "" "0000885501" "00004393" "50" "1877" "0" "1877" "0" "c.1877T>C" "r.(?)" "p.(Leu626Pro)" "" "" "0000885502" "00004393" "90" "2089" "0" "2089" "0" "c.2089G>A" "r.(?)" "p.(Val697Met)" "" "" "0000885503" "00004393" "30" "2901" "0" "2901" "0" "c.2901C>A" "r.(?)" "p.(Ile967=)" "" "" "0000885504" "00004393" "50" "3055" "0" "3055" "0" "c.3055G>A" "r.(?)" "p.(Gly1019Arg)" "" "" "0000911806" "00004393" "70" "1626" "0" "1626" "0" "c.1626C>G" "r.(?)" "p.(Cys542Trp)" "" "" "0000923813" "00004393" "10" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Glu191=)" "" "" "0000928687" "00004393" "90" "680" "0" "680" "0" "c.680G>A" "r.(?)" "p.(Arg227Gln)" "" "" "0000928688" "00004393" "30" "1192" "0" "1192" "0" "c.1192G>A" "r.(?)" "p.(Asp398Asn)" "" "" "0000928689" "00004393" "50" "2540" "0" "2540" "0" "c.2540G>A" "r.(?)" "p.(Gly847Asp)" "" "" "0000936008" "00004393" "70" "3025" "0" "3025" "0" "c.3025C>T" "r.(?)" "p.(Arg1009*)" "" "" "0000947992" "00004393" "70" "196" "0" "196" "0" "c.196C>T" "r.(?)" "p.(Arg66Cys)" "" "" "0000947993" "00004393" "50" "731" "0" "731" "0" "c.731C>T" "r.(?)" "p.(Ser244Phe)" "" "" "0000947994" "00004393" "30" "748" "0" "748" "0" "c.748G>A" "r.(?)" "p.(Glu250Lys)" "" "" "0000947995" "00004393" "50" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Val313Met)" "" "" "0000947996" "00004393" "70" "1393" "0" "1393" "0" "c.1393C>T" "r.(?)" "p.(Arg465Trp)" "" "" "0000947997" "00004393" "70" "2008" "0" "2008" "0" "c.2008G>A" "r.(?)" "p.(Gly670Arg)" "" "" "0000947998" "00004393" "50" "2549" "0" "2549" "0" "c.2549C>A" "r.(?)" "p.(Ala850Glu)" "" "" "0000947999" "00004393" "50" "2552" "0" "2552" "0" "c.2552G>C" "r.(?)" "p.(Cys851Ser)" "" "" "0000952601" "00004393" "90" "887" "0" "887" "0" "c.887G>A" "r.(?)" "p.(Ser296Asn)" "" "" "0000955411" "00004393" "90" "557" "0" "557" "0" "c.557C>A" "r.(?)" "p.(Thr186Asn)" "4" "" "0000962433" "00004393" "10" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Ala26=)" "" "" "0000962434" "00004393" "50" "647" "0" "647" "0" "c.647A>G" "r.(?)" "p.(Asp216Gly)" "" "" "0000962436" "00004393" "70" "1810" "0" "1810" "0" "c.1810G>A" "r.(?)" "p.(Glu604Lys)" "" "" "0000962437" "00004393" "50" "2729" "0" "2729" "0" "c.2729C>G" "r.(?)" "p.(Pro910Arg)" "" "" "0000975511" "00004393" "50" "3013" "0" "3013" "0" "c.3013G>A" "r.(?)" "p.(Asp1005Asn)" "" "" "0000993190" "00004393" "30" "114" "0" "114" "0" "c.114T>C" "r.(?)" "p.(=)" "" "" "0000993191" "00004393" "30" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Val313Met)" "" "" "0000993192" "00004393" "50" "1337" "0" "1337" "0" "c.1337A>G" "r.(?)" "p.(Asn446Ser)" "" "" "0000993193" "00004393" "90" "1631" "0" "1631" "0" "c.1631G>A" "r.(?)" "p.(Arg544Gln)" "" "" "0001013801" "00004393" "30" "573" "0" "573" "0" "c.573G>A" "r.(?)" "p.(Glu191=)" "" "" "0001013802" "00004393" "50" "916" "0" "916" "0" "c.916G>A" "r.(?)" "p.(Ala306Thr)" "" "" "0001013803" "00004393" "30" "1476" "0" "1476" "0" "c.1476C>T" "r.(?)" "p.(=)" "" "" "0001024707" "00004393" "90" "1718" "0" "1718" "0" "c.1718A>G" "r.(?)" "p.(Tyr573Cys)" "" "" "0001024708" "00004393" "90" "2039" "0" "2039" "0" "c.2039G>A" "r.(?)" "p.(Arg680His)" "" "" "0001024709" "00004393" "50" "2405" "0" "2405" "0" "c.2405A>G" "r.(?)" "p.(Asn802Ser)" "" "" "0001024710" "00004393" "10" "2610" "0" "2610" "0" "c.2610G>A" "r.(?)" "p.(Glu870=)" "" "" "0001033595" "00004393" "90" "73" "0" "73" "0" "c.73C>T" "r.(?)" "p.(Arg25Ter)" "" "" "0001033596" "00004393" "30" "75" "0" "75" "0" "c.75A>C" "r.(?)" "p.(=)" "" "" "0001033597" "00004393" "50" "480" "0" "480" "0" "c.480C>G" "r.(?)" "p.(Phe160Leu)" "" "" "0001033598" "00004393" "50" "805" "0" "805" "0" "c.805G>T" "r.(?)" "p.(Val269Phe)" "" "" "0001033599" "00004393" "50" "1676" "0" "1676" "0" "c.1676C>A" "r.(?)" "p.(Pro559His)" "" "" "0001033600" "00004393" "50" "1685" "0" "1685" "0" "c.1685G>T" "r.(?)" "p.(Cys562Phe)" "" "" "0001033601" "00004393" "50" "2195" "0" "2195" "0" "c.2195C>A" "r.(?)" "p.(Thr732Asn)" "" "" "0001033602" "00004393" "50" "2585" "0" "2585" "0" "c.2585T>C" "r.(?)" "p.(Phe862Ser)" "" "" "0001033603" "00004393" "50" "2761" "0" "2761" "0" "c.2761G>C" "r.(?)" "p.(Glu921Gln)" "" "" "0001033604" "00004393" "30" "2866" "0" "2866" "0" "c.2866T>G" "r.(?)" "p.(Ser956Ala)" "" "" "0001033605" "00004393" "50" "2915" "0" "2915" "0" "c.2915C>T" "r.(?)" "p.(Thr972Met)" "" "" "0001045868" "00004393" "30" "1377" "6" "1377" "6" "c.1377+6T>C" "r.(=)" "p.(=)" "" "" "0001045869" "00004393" "70" "1746" "0" "1746" "0" "c.1746dup" "r.(?)" "p.(Asn583Ter)" "" "" "0001048420" "00004393" "70" "652" "0" "652" "0" "c.652T>C" "r.(?)" "p.(Tyr218His)" "" "" "0001049093" "00004393" "10" "1608" "52" "1608" "52" "c.1608+52G>A" "r.(?)" "p.(?)" "" "" "0001049094" "00004393" "30" "2968" "0" "2968" "0" "c.2968A>G" "r.(?)" "p.(Arg990Gly)" "" "" "0001049095" "00004393" "30" "2968" "0" "2968" "0" "c.2968A>G" "r.(?)" "p.(Arg990Gly)" "" "" "0001051457" "00004393" "70" "554" "0" "554" "0" "c.554G>T" "r.(?)" "p.(Arg185Leu)" "" "" "0001051458" "00004393" "50" "991" "0" "991" "0" "c.991C>T" "r.(?)" "p.(Arg331Trp)" "" "" "0001051459" "00004393" "50" "1377" "4" "1377" "4" "c.1377+4C>T" "r.spl?" "p.?" "" "" "0001051460" "00004393" "50" "1622" "0" "1622" "0" "c.1622A>G" "r.(?)" "p.(Asn541Ser)" "" "" "0001051461" "00004393" "50" "1700" "0" "1700" "0" "c.1700A>G" "r.(?)" "p.(Glu567Gly)" "" "" "0001051462" "00004393" "70" "2372" "0" "2372" "0" "c.2372C>T" "r.(?)" "p.(Ala791Val)" "" "" "0001051463" "00004393" "50" "2687" "0" "2687" "0" "c.2687G>A" "r.(?)" "p.(Arg896His)" "" "" "0001051464" "00004393" "50" "3220" "0" "3220" "0" "c.3220A>G" "r.(?)" "p.(Asn1074Asp)" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 347 "{{screeningid}}" "{{variantid}}" "0000205808" "0000435218" "0000205809" "0000435219" "0000205810" "0000435220" "0000205811" "0000435221" "0000205812" "0000435222" "0000205813" "0000435223" "0000205814" "0000435224" "0000205815" "0000435225" "0000205816" "0000435226" "0000205817" "0000435227" "0000205818" "0000435228" "0000205819" "0000435229" "0000205820" "0000435230" "0000205821" "0000435231" "0000205822" "0000435232" "0000205823" "0000435233" "0000205824" "0000435234" "0000205825" "0000435235" "0000205826" "0000435236" "0000205827" "0000435237" "0000205828" "0000435238" "0000205829" "0000435239" "0000205830" "0000435240" "0000205831" "0000435241" "0000205832" "0000435242" "0000205833" "0000435243" "0000205834" "0000435244" "0000205835" "0000435245" "0000205836" "0000435246" "0000205837" "0000435247" "0000205838" "0000435248" "0000205839" "0000435249" "0000205840" "0000435250" "0000205841" "0000435251" "0000205842" "0000435252" "0000205843" "0000435253" "0000205844" "0000435254" "0000205845" "0000435255" "0000205846" "0000435256" "0000205847" "0000435257" "0000205848" "0000435258" "0000205849" "0000435259" "0000205850" "0000435260" "0000205851" "0000435261" "0000205852" "0000435262" "0000205853" "0000435263" "0000205854" "0000435264" "0000205855" "0000435265" "0000205856" "0000435266" "0000205857" "0000435267" "0000205858" "0000435268" "0000205859" "0000435269" "0000205860" "0000435270" "0000205861" "0000435271" "0000205862" "0000435272" "0000205863" "0000435273" "0000205864" "0000435274" "0000205865" "0000435275" "0000205866" "0000435276" "0000205867" "0000435277" "0000205868" "0000435278" "0000205869" "0000435279" "0000205870" "0000435280" "0000205871" "0000435281" "0000205872" "0000435282" "0000205873" "0000435283" "0000205874" "0000435284" "0000205875" "0000435285" "0000205876" "0000435286" "0000205877" "0000435287" "0000205878" "0000435288" "0000205879" "0000435289" "0000205880" "0000435290" "0000205881" "0000435291" "0000205882" "0000435292" "0000205883" "0000435293" "0000205884" "0000435294" "0000205885" "0000435295" "0000205886" "0000435296" "0000205887" "0000435297" "0000205888" "0000435298" "0000205889" "0000435299" "0000205890" "0000435300" "0000205891" "0000435301" "0000205892" "0000435302" "0000205893" "0000435303" "0000205894" "0000435304" "0000205895" "0000435305" "0000205896" "0000435306" "0000205897" "0000435307" "0000205898" "0000435308" "0000205899" "0000435309" "0000205900" "0000435310" "0000205901" "0000435311" "0000205902" "0000435312" "0000205903" "0000435313" "0000205904" "0000435314" "0000205905" "0000435315" "0000205906" "0000435316" "0000205907" "0000435317" "0000205908" "0000435318" "0000205909" "0000435319" "0000205910" "0000435320" "0000205911" "0000435321" "0000205912" "0000435322" "0000205913" "0000435323" "0000205914" "0000435324" "0000205915" "0000435325" "0000205916" "0000435326" "0000205917" "0000435327" "0000205918" "0000435328" "0000205919" "0000435329" "0000205920" "0000435330" "0000205921" "0000435331" "0000205922" "0000435332" "0000205923" "0000435333" "0000205924" "0000435334" "0000205925" "0000435335" "0000205926" "0000435336" "0000205927" "0000435337" "0000205928" "0000435338" "0000205929" "0000435339" "0000205930" "0000435340" "0000205931" "0000435341" "0000205932" "0000435342" "0000205933" "0000435343" "0000205934" "0000435344" "0000205935" "0000435345" "0000205936" "0000435346" "0000205937" "0000435347" "0000205938" "0000435348" "0000205939" "0000435349" "0000205940" "0000435350" "0000205941" "0000435351" "0000205942" "0000435352" "0000205943" "0000435353" "0000205944" "0000435354" "0000205945" "0000435355" "0000205946" "0000435356" "0000205947" "0000435357" "0000205948" "0000435358" "0000205949" "0000435359" "0000205950" "0000435360" "0000205951" "0000435361" "0000205952" "0000435362" "0000205953" "0000435363" "0000205954" "0000435364" "0000205955" "0000435365" "0000205956" "0000435366" "0000205957" "0000435367" "0000205958" "0000435368" "0000205959" "0000435369" "0000205960" "0000435370" "0000205961" "0000435371" "0000205962" "0000435372" "0000205963" "0000435373" "0000205964" "0000435374" "0000205965" "0000435375" "0000205966" "0000435376" "0000205967" "0000435377" "0000205968" "0000435378" "0000205969" "0000435379" "0000205970" "0000435380" "0000205971" "0000435381" "0000205972" "0000435382" "0000205973" "0000435383" "0000205974" "0000435384" "0000205975" "0000435385" "0000205976" "0000435386" "0000205977" "0000435387" "0000205978" "0000435388" "0000205979" "0000435389" "0000205980" "0000435390" "0000205981" "0000435391" "0000205982" "0000435392" "0000205983" "0000435393" "0000205984" "0000435394" "0000205985" "0000435395" "0000205986" "0000435396" "0000205987" "0000435397" "0000205988" "0000435398" "0000205989" "0000435399" "0000205990" "0000435400" "0000205991" "0000435401" "0000205992" "0000435402" "0000205993" "0000435403" "0000205994" "0000435404" "0000205995" "0000435405" "0000205996" "0000435406" "0000205997" "0000435407" "0000205998" "0000435408" "0000205999" "0000435409" "0000206000" "0000435410" "0000206001" "0000435411" "0000206002" "0000435412" "0000206003" "0000435413" "0000206004" "0000435414" "0000206005" "0000435415" "0000206006" "0000435416" "0000206007" "0000435417" "0000206008" "0000435418" "0000206009" "0000435419" "0000206010" "0000435420" "0000206011" "0000435421" "0000206012" "0000435422" "0000206013" "0000435423" "0000206014" "0000435424" "0000206015" "0000435425" "0000206016" "0000435426" "0000206017" "0000435427" "0000206018" "0000435428" "0000206019" "0000435429" "0000206020" "0000435430" "0000206021" "0000435431" "0000206022" "0000435432" "0000206023" "0000435433" "0000206024" "0000435434" "0000206025" "0000435435" "0000206026" "0000435436" "0000206027" "0000435437" "0000206028" "0000435438" "0000206029" "0000435439" "0000206030" "0000435440" "0000206031" "0000435441" "0000206032" "0000435442" "0000206033" "0000435443" "0000206034" "0000435444" "0000206035" "0000435445" "0000206036" "0000435446" "0000206037" "0000435447" "0000206038" "0000435448" "0000206039" "0000435449" "0000206040" "0000435450" "0000206041" "0000435451" "0000206042" "0000435452" "0000206043" "0000435453" "0000206044" "0000435454" "0000206045" "0000435455" "0000206046" "0000435456" "0000206047" "0000435457" "0000206048" "0000435458" "0000206049" "0000435459" "0000206050" "0000435460" "0000206051" "0000435461" "0000206052" "0000435462" "0000206053" "0000435463" "0000206054" "0000435464" "0000206055" "0000435465" "0000206056" "0000435466" "0000206057" "0000435467" "0000206058" "0000435468" "0000206059" "0000435469" "0000206060" "0000435470" "0000206061" "0000435471" "0000206062" "0000435472" "0000206063" "0000435473" "0000206064" "0000435474" "0000206065" "0000435475" "0000206066" "0000435476" "0000206067" "0000435477" "0000206068" "0000435478" "0000206069" "0000435479" "0000206070" "0000435480" "0000206071" "0000435481" "0000206072" "0000435482" "0000206073" "0000435483" "0000206074" "0000435484" "0000206075" "0000435485" "0000206076" "0000435486" "0000206077" "0000435487" "0000206078" "0000435488" "0000206079" "0000435489" "0000206080" "0000435490" "0000206081" "0000435491" "0000206082" "0000435492" "0000206083" "0000435493" "0000206084" "0000435494" "0000206085" "0000435495" "0000206086" "0000435496" "0000206087" "0000435497" "0000206088" "0000435498" "0000206089" "0000435499" "0000206090" "0000435500" "0000206091" "0000435501" "0000206092" "0000435502" "0000206093" "0000435503" "0000206094" "0000435504" "0000206095" "0000435505" "0000206096" "0000435506" "0000206097" "0000435507" "0000206098" "0000435508" "0000206099" "0000435509" "0000206100" "0000435510" "0000206101" "0000435511" "0000206102" "0000435512" "0000206103" "0000435513" "0000206104" "0000435514" "0000206105" "0000435515" "0000206106" "0000435516" "0000206107" "0000435517" "0000206108" "0000435518" "0000206109" "0000435519" "0000206110" "0000435520" "0000206111" "0000435521" "0000206112" "0000435522" "0000206113" "0000435523" "0000206114" "0000435524" "0000206115" "0000435525" "0000206116" "0000435526" "0000206117" "0000435527" "0000206118" "0000435528" "0000206119" "0000435529" "0000206120" "0000435530" "0000206121" "0000435531" "0000206122" "0000435532" "0000206123" "0000435533" "0000206124" "0000435534" "0000206125" "0000435535" "0000206126" "0000435536" "0000206127" "0000435537" "0000206128" "0000435538" "0000206129" "0000435539" "0000206130" "0000435540" "0000206131" "0000435541" "0000206132" "0000435542" "0000206133" "0000435543" "0000206134" "0000435544" "0000206135" "0000435545" "0000206136" "0000435546" "0000206137" "0000435547" "0000206138" "0000435548" "0000206139" "0000435549" "0000206140" "0000435550" "0000206141" "0000435551" "0000206142" "0000435552" "0000206143" "0000435553" "0000206144" "0000435554" "0000206145" "0000435555" "0000206146" "0000435556" "0000206147" "0000435557" "0000206148" "0000435558" "0000235443" "0000478199" "0000294355" "0000651044" "0000294356" "0000651045" "0000420820" "0000881179" "0000439879" "0000936008" "0000446963" "0000955411"