### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RNU2-2) # 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}}" "RNU2-2" "RNA, U2 small nuclear 2" "11" "q12.3" "unknown" "NC_000011.9" "UD_136090693808" "" "https://www.LOVD.nl/RNU2-2" "" "1" "10152" "26855" "621238" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2025-09-30 17:42:32" "00006" "2026-06-29 14:36:41" ## 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}}" "00017968" "RNU2-2" "RNA, U2 small nuclear 2" "001" "NR_002761.3" "" "" "" "" "" "1" "138" "138" "62609233" "62609096" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 4 "{{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" "" "" "05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21" "06906" "DEE" "encephalopathy, developmental and epileptic" "" "" "" "" "" "00006" "2022-04-07 09:24:23" "" "" "07184" "DEE119" "encephalopathy, developmental and epileptic, type 119" "AD" "621304" "" "" "" "00006" "2025-09-30 18:03:08" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "RNU2-2" "05611" "RNU2-2" "07184" ## Individuals ## Do not remove or alter this header ## ## Count = 354 "{{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}}" "00454914" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG1" "00454915" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG2" "00454916" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG3" "00454917" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG4" "00454918" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG5" "00454919" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG6" "00454920" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG7" "00454921" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier mother" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG8" "00454922" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 2 affected brothers, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatG9" "00454923" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatM1" "00454924" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatM2" "00454925" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatN1" "00454926" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatS1" "00454927" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier mother" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatS2" "00454928" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "2-generation family, 1 affected, unaffected non carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "PatS3" "00467064" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI1" "00467065" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI2" "00467066" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI3" "00467067" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "PatI4" "00467068" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United States" "" "0" "" "" "" "PatI5" "00467069" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United States" "" "0" "" "" "" "PatI6" "00467070" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Netherlands" "" "0" "" "" "" "PatR1" "00467071" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Netherlands" "" "0" "" "" "" "PatW1" "00467072" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Iceland" "" "0" "" "" "" "PatY1" "00467073" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40210679}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "" "PatZ1" "00467083" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "2-Pat1" "00467084" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "2-Pat2" "00467085" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Australia" "" "0" "" "" "jew-Ashkenazi" "2-Pat3" "00467086" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea" "" "0" "" "" "Asia" "2-Pat4" "00467087" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "Asia" "2-Pat5" "00467088" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "Korea" "" "0" "" "" "Asia" "2-Pat6" "00467089" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Korea" "" "0" "" "" "Asia" "2-Pat7" "00467090" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat8" "00467091" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat9" "00467092" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat10" "00467093" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat11" "00467094" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat12" "00467095" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat13" "00467096" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "Europe" "2-Pat14" "00467097" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat15" "00467098" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat16" "00467099" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat17" "00467100" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat18" "00467101" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat19" "00467102" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat20" "00467103" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat21" "00467104" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat22" "00467105" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat23" "00467106" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat24" "00467107" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat25" "00467108" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "2-Pat26" "00467109" "" "" "" "1" "" "00006" "{PMID:Jackson 2025:40442284}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "Europe" "2-Pat27" "00467110" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamA" "00467111" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamB" "00467112" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamC" "00467113" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamD" "00467114" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamE" "00467115" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamF" "00467116" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamG" "00467117" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamH" "00467118" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamI" "00467119" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamJ" "00467120" "" "" "" "3" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/2 sisters, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamK" "00467121" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamL" "00467122" "" "" "" "3" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 3 affected brothers, unaffected heterozygous carrier parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamM" "00467123" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected parents" "F;M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamN" "00467124" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamO" "00467125" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamP" "00467126" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamQ" "00467127" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "yes" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamR" "00467128" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamU" "00467129" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "" "" "0" "" "" "" "FamV" "00467130" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamW" "00467131" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamXPat1" "00467132" "" "" "" "2" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "" "" "0" "" "" "" "FamYPat1" "00467133" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamA2" "00467134" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamB2" "00467135" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamC2" "00467136" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamD2" "00467137" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamE2" "00467138" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamF2" "00467139" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamG2" "00467140" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamH2" "00467141" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamI2" "00467142" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamJ2" "00467143" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamK2" "00467144" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamL2" "00467145" "" "" "" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "FamM2" "00467146" "" "" "00467131" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "sister" "F" "" "" "" "0" "" "" "" "FamXPat2" "00467147" "" "" "00467132" "1" "" "00006" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "sister" "F" "" "" "" "0" "" "" "" "FamYPat2" "00467152" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-1" "00467153" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-2" "00467154" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-3" "00467155" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-4" "00467156" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-5" "00467157" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-6" "00467158" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-7" "00467159" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-8" "00467160" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-9" "00467161" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-10" "00467162" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-11" "00467163" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-12" "00467164" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "" "PatSupTab2-13" "00467165" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-14" "00467166" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-15" "00467167" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-16" "00467168" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-17" "00467169" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-18" "00467170" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-19" "00467171" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, affected twins, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-20" "00467172" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-21" "00467173" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-22" "00467174" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-23" "00467175" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-24" "00467176" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-25" "00467177" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-26" "00467178" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-27" "00467179" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-28" "00467180" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-29" "00467181" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-30" "00467182" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-31" "00467183" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-32" "00467184" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-33" "00467185" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-34" "00467186" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-35" "00467187" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-36" "00467188" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-37" "00467189" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-38" "00467190" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-39" "00467191" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-40" "00467192" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-41" "00467193" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-42" "00467194" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-43" "00467195" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-44" "00467196" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-45" "00467197" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-46" "00467198" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-47" "00467199" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-48" "00467200" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-49" "00467201" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-50" "00467202" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-51" "00467203" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-52" "00467204" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-53" "00467205" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-54" "00467206" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-55" "00467207" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-56" "00467208" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-57" "00467209" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-58" "00467210" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-59" "00467211" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-60" "00467212" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-61" "00467213" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-62" "00467214" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-63" "00467215" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-64" "00467216" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-65" "00467217" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "" "" "0" "" "" "" "PatSupTab2-66" "00467218" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-67" "00467219" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-68" "00467220" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-69" "00467221" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-70" "00467222" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-71" "00467223" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-72" "00467224" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-73" "00467225" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-74" "00467226" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-75" "00467227" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-76" "00467228" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-77" "00467229" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-78" "00467230" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-79" "00467231" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-80" "00467232" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-81" "00467233" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-82" "00467234" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-83" "00467235" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-84" "00467236" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-85" "00467237" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-86" "00467238" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-87" "00467239" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-88" "00467240" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-89" "00467241" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-90" "00467242" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-91" "00467243" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-92" "00467244" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-93" "00467245" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-94" "00467246" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-95" "00467247" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-96" "00467248" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-97" "00467249" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-98" "00467250" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-99" "00467251" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-100" "00467252" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-101" "00467253" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-102" "00467254" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-103" "00467255" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-104" "00467256" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-105" "00467257" "" "" "" "2" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 2 affected sibs, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-106" "00467258" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, 1 affected, unaffected carrier parents" "" "" "" "" "0" "" "" "" "PatSupTab2-107" "00467259" "" "" "" "1" "" "00006" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "2-generation family, affected fetus, unaffected carrier parents" "" "" "France" "" "0" "" "" "" "PatSupTab2-108" "00467261" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat1" "00467262" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "China" "" "0" "" "" "" "Pat2" "00467263" "" "" "" "1" "" "00006" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "China" "" "0" "" "" "" "Pat3" "00474088" "" "" "" "1" "" "00006" "{PMID:Boukas 2026:41795468}" "2-generation family, 1 affected, unaffected non-carrier parents" "" "" "United States" "" "0" "" "" "" "Duo1" "00480225" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam1Pat1" "00480226" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam2Pat2" "00480227" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-S" "Fam3Pat3" "00480228" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, affected brother/sister, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam4Pat4" "00480229" "" "" "00480228" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sister" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam4Pat5" "00480230" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam5Pat6" "00480231" "" "" "" "3" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 3 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "Fam6Pat7" "00480232" "" "" "00480231" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "Fam6Pat8" "00480233" "" "" "00480231" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Somalia" "Fam6Pat9" "00480234" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-S" "Fam7Pat10" "00480235" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Asia-S" "Fam8Pat11" "00480236" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam9Pat12" "00480237" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam10Pat13" "00480238" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam11Pat14" "00480239" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam12Pat15" "00480240" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam13Pat16" "00480241" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam14Pat17" "00480242" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam15Pat18" "00480243" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam16Pat19" "00480244" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected sibs, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "23y" "0" "" "" "" "Fam17Pat20" "00480245" "" "" "00480244" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sib" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam17Pat21" "00480246" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam18Pat22" "00480247" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Ireland" "" "0" "" "" "white" "Fam19Pat23" "00480248" "" "" "" "3" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 3 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam20Pat24" "00480249" "" "" "00480248" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam20Pat25" "00480250" "" "" "00480248" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam20Pat26" "00480251" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "16y" "0" "" "" "white" "Fam21Pat27" "00480252" "" "" "00480251" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "half-sibling" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam21Pat28" "00480253" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Romania" "Fam22Pat29" "00480254" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam23Pat30" "00480255" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam24Pat31" "00480256" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam25Pat32" "00480257" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "white;Asia" "Fam26Pat33" "00480258" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam27Pat34" "00480259" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "white" "Fam28Pat35" "00480260" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam29Pat36" "00480261" "" "" "00480260" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "M" "" "United Kingdom (Great Britain)" "" "0" "" "" "Pakistan" "Fam29Pat37" "00480262" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam30Pat38" "00480263" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam31Pat39" "00480264" "" "" "00480263" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Fam31Pat40" "00480265" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "Fam32Pat41" "00480266" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam33Pat42" "00480267" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "Fam34Pat43" "00480268" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "Fam35Pat44" "00480269" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "United States" "" "0" "" "" "white" "Fam36Pat45" "00480270" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam37Pat46" "00480271" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam38Pat47" "00480272" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam39Pat48" "00480273" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "United States" "" "0" "" "" "" "Fam40Pat49" "00480274" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "United States" "" "0" "" "" "white" "Fam41Pat50" "00480275" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Australia" "" "0" "" "" "" "Fam42Pat51" "00480276" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Australia" "" "0" "" "" "" "Fam43Pat52" "00480277" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "Fam44Pat53" "00480278" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "F" "" "Italy" "" "0" "" "" "" "Fam45Pat54" "00480279" "" "" "00480278" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "M" "" "Italy" "" "0" "" "" "" "Fam45Pat55" "00480280" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "Fam46Pat56" "00480281" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Korea, South (Republic)" "" "0" "" "" "" "Fam47Pat57" "00480282" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "Fam48Pat58" "00480283" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "Fam49Pat59" "00480284" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam50Pat60" "00480285" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam51Pat61" "00480286" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "" "Afghanistan" "" "0" "" "" "Tajik" "Fam52Pat62" "00480287" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam53Pat63" "00480288" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam54Pat64" "00480289" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam55Pat65" "00480290" "" "" "00480289" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam55Pat66" "00480291" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam56Pat67" "00480292" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam57Pat68" "00480293" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam58Pat69" "00480294" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam59Pat70" "00480295" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam60Pat71" "00480296" "" "" "00480295" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam60Pat72" "00480297" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Saudi Arabia" "" "0" "" "" "" "Fam61Pat73" "00480298" "" "" "" "3" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 3 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam62Pat74" "00480299" "" "" "00480298" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "Sweden" "" "0" "" "" "" "Fam62Pat75" "00480300" "" "" "00480298" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "Sweden" "" "0" "" "" "" "Fam62Pat76" "00480301" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam63Pat77" "00480302" "" "" "00480301" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "Sweden" "" "0" "" "" "" "Fam63Pat78" "00480303" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam64Pat79" "00480304" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam65Pat80" "00480305" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam66Pat81" "00480306" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam67Pat82" "00480307" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam68Pat83" "00480308" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam69Pat84" "00480309" "" "" "" "2" "" "00006" "{PMID:Jackson 2026:41912933}" "2-generation family, 2 affected, unaffected heterozygous carrier parents" "" "" "Sweden" "" "0" "" "" "" "Fam70Pat85" "00480310" "" "" "00480309" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "sibling" "" "" "Sweden" "" "0" "" "" "" "Fam70Pat86" "00480311" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480312" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480313" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480314" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480315" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480316" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480317" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480318" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480319" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480320" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480321" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480322" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480323" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480324" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480325" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480326" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480327" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480328" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480329" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480330" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480331" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480332" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480333" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480334" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480335" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480336" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480337" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480338" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480339" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480340" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480341" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480342" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480343" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480344" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480345" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480346" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480347" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480348" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" 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"00480356" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480357" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480358" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480359" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480360" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480361" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480362" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480363" "" "" "" "1" "" "00006" "{PMID:Jackson 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Britain)" "" "0" "" "" "" "" "00480371" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480372" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480373" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480374" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480375" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00480376" "" "" "" "1" "" "00006" "{PMID:Jackson 2026:41912933}" "control" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 288 "{{individualid}}" "{{diseaseid}}" "00454914" "05611" "00454915" "05611" "00454916" 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"00467222" "05611" "00467223" "05611" "00467224" "05611" "00467225" "05611" "00467226" "05611" "00467227" "05611" "00467228" "05611" "00467229" "05611" "00467230" "05611" "00467231" "05611" "00467232" "05611" "00467233" "05611" "00467234" "05611" "00467235" "05611" "00467236" "05611" "00467237" "05611" "00467238" "05611" "00467239" "05611" "00467240" "00000" "00467241" "05611" "00467242" "00000" "00467243" "05611" "00467244" "05611" "00467245" "05611" "00467246" "05611" "00467247" "05611" "00467248" "05611" "00467249" "05611" "00467250" "05611" "00467251" "05611" "00467252" "05611" "00467253" "05611" "00467254" "05611" "00467255" "05611" "00467256" "05611" "00467257" "05611" "00467258" "05611" "00467259" "00000" "00467261" "05611" "00467262" "05611" "00467263" "05611" "00474088" "06906" "00480225" "05611" "00480226" "05611" "00480227" "05611" "00480228" "05611" "00480229" "05611" "00480230" "05611" "00480231" "05611" "00480232" "05611" "00480233" "05611" "00480234" "05611" "00480235" "05611" "00480236" "05611" "00480237" "05611" "00480238" "05611" "00480239" "05611" "00480240" "05611" "00480241" "05611" "00480242" "05611" "00480243" "05611" "00480244" "05611" "00480245" "05611" "00480246" "05611" "00480247" "05611" "00480248" "05611" "00480249" "05611" "00480250" "05611" "00480251" "05611" "00480252" "05611" "00480253" "05611" "00480254" "05611" "00480255" "05611" "00480256" "05611" "00480257" "05611" "00480258" "05611" "00480259" "05611" "00480260" "05611" "00480261" "05611" "00480262" "05611" "00480263" "05611" "00480264" "05611" "00480265" "05611" "00480266" "05611" "00480267" "05611" "00480268" "05611" "00480269" "05611" "00480270" "05611" "00480271" "05611" "00480272" "05611" "00480273" "05611" "00480274" "05611" "00480275" "05611" "00480276" "05611" "00480277" "05611" "00480278" "05611" "00480279" "05611" "00480280" "05611" "00480281" "05611" "00480282" "05611" "00480283" "05611" "00480284" "05611" "00480285" "05611" "00480286" "05611" "00480287" "05611" "00480288" "05611" "00480289" "05611" "00480290" "05611" "00480291" "05611" "00480292" "05611" "00480293" "05611" "00480294" "05611" "00480295" "05611" "00480296" "05611" "00480297" "05611" "00480298" "05611" "00480299" "05611" "00480300" "05611" "00480301" "05611" "00480302" "05611" "00480303" "05611" "00480304" "05611" "00480305" "05611" "00480306" "05611" "00480307" "05611" "00480308" "05611" "00480309" "05611" "00480310" "05611" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 05611, 06906, 07184 ## Count = 288 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "0000343512" "05611" "00454914" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343513" "05611" "00454915" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343514" "05611" "00454916" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343515" "05611" "00454917" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343516" "05611" "00454918" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343517" "05611" "00454919" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343518" "05611" "00454920" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343519" "05611" "00454921" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343520" "05611" "00454922" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343521" "05611" "00454923" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343522" "05611" "00454924" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343523" "05611" "00454925" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343524" "05611" "00454926" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343525" "05611" "00454927" "00006" "Unknown" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000343526" "05611" "00454928" "00006" "Isolated (sporadic)" "" "see paper; ..., severe/complex seizure phenotype" "" "" "" "" "" "" "" "neurodevelopmental delay" "0000352271" "05611" "00467064" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352272" "05611" "00467065" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352273" "05611" "00467066" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352274" "05611" "00467067" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352275" "05611" "00467068" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352276" "05611" "00467069" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352277" "05611" "00467070" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352278" "05611" "00467071" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352279" "05611" "00467072" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352280" "05611" "00467073" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352290" "05611" "00467083" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352291" "05611" "00467084" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352292" "05611" "00467085" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352293" "05611" "00467086" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352294" "05611" "00467087" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352295" "05611" "00467088" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352296" "05611" "00467089" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352297" "05611" "00467090" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352298" "05611" "00467091" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352299" "05611" "00467092" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352300" "05611" "00467093" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352301" "05611" "00467094" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352302" "05611" "00467095" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352303" "05611" "00467096" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352304" "05611" "00467097" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352305" "05611" "00467098" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352306" "05611" "00467099" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352307" "05611" "00467100" "00006" "Familial, autosomal dominant" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352308" "05611" "00467101" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352309" "05611" "00467102" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352310" "05611" "00467103" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352311" "05611" "00467104" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352312" "05611" "00467105" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352313" "05611" "00467106" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352314" "05611" "00467107" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352315" "05611" "00467108" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352316" "05611" "00467109" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352317" "05611" "00467110" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352318" "05611" "00467111" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352319" "05611" "00467112" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352320" "05611" "00467113" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352321" "05611" "00467114" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352322" "05611" "00467115" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352323" "05611" "00467116" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352324" "05611" "00467117" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352325" "05611" "00467118" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352326" "05611" "00467119" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352327" "05611" "00467120" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352328" "05611" "00467121" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352329" "05611" "00467122" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352330" "05611" "00467123" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352331" "05611" "00467124" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352332" "05611" "00467125" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352333" "05611" "00467126" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352334" "05611" "00467127" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352335" "05611" "00467128" "00006" "Familial, autosomal recessive" "" "see paper; ..., seizures, bilateral tonic-clonic seizure, bilateral tonic-clonic seizure with generalized onset; EEG generalized slow activity; Babinski sign; autism; abnormal repetitive mannerisms; bruxism; recurrent hand flapping; hand clenching; stereotypical body rocking; no speech; global developmental delay; inability to walk; abnormal cerebral white matter morphology; failure to thrive; breathing dysregulation; hyperventilation; generalized hypotonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352336" "05611" "00467129" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; seizures, bilateral tonic-clonic seizure; spasticity; spastic tetraparesis; no speech; global developmental delay; dystonia; inability to walk; hyperreflexia; abnormal cerebral white matter morphology; small basal ganglia; cerebral white matter agenesis; feeding difficulties; scoliosis; hypertonia; generalized hypotonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352337" "05611" "00467130" "00006" "Familial, autosomal recessive" "" "see paper; ..., microcephaly; encephalopathy; seizures; sleep abnormality; inappropriate laughter; abnormal repetitive mannerisms; no speech; global developmental delay; dystonia; hypoglycorrhachia; decreased lacrimation; decreased sweating due to autonomic dysfunction; constipation" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352338" "05611" "00467131" "00006" "Familial, autosomal recessive" "" "see paper; ..., encephalopathy; seizures, myoclonic seizure; choreoathetosis; inappropriate laughter; agitation; abnormal repetitive mannerisms; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; feeding difficulties; hypertonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352339" "05611" "00467132" "00006" "Familial, autosomal recessive" "" "see paper; ..., plagiocephaly; seizures, focal-onset seizure; spasticity; autism; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; dystonia; broad-based gait; inability to walk; failure to thrive; hypertonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352340" "05611" "00467133" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352341" "05611" "00467134" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352342" "05611" "00467135" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352343" "05611" "00467136" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352344" "05611" "00467137" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352345" "05611" "00467138" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352346" "05611" "00467139" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352347" "05611" "00467140" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352348" "05611" "00467141" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352349" "05611" "00467142" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352350" "05611" "00467143" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352351" "05611" "00467144" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352352" "05611" "00467145" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "osteogenesis imperfecta" "0000352353" "05611" "00467146" "00006" "Familial, autosomal recessive" "" "see paper; ..., encephalopathy; seizures, myoclonic seizure; inappropriate laughter; agitation; abnormal repetitive mannerisms; stereotypical hand wringing; no speech; global developmental delay; delayed gross motor development; inability to walk; hyperreflexia; hypoplasia corpus callosum; cerebral cortical atrophy; cerebellar cortical atrophy; abnormal cerebral white matter morphology; failure to thrive; constipation; hypertonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352354" "05611" "00467147" "00006" "Familial, autosomal recessive" "" "see paper; ..., spasticity; agitation; dystonia; broad-based gait; inability to walk; hypertonia" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352359" "05611" "00467152" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352360" "05611" "00467153" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352361" "05611" "00467154" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352362" "05611" "00467155" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352363" "05611" "00467156" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352364" "05611" "00467157" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352365" "05611" "00467158" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352366" "05611" "00467159" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352367" "05611" "00467160" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352368" "05611" "00467161" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352369" "05611" "00467162" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352370" "05611" "00467163" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352371" "05611" "00467164" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352372" "05611" "00467165" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352373" "05611" "00467166" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352374" "05611" "00467167" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352375" "05611" "00467168" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352376" "05611" "00467169" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352377" "05611" "00467170" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352378" "05611" "00467171" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352379" "05611" "00467172" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352380" "05611" "00467173" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352381" "05611" "00467174" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352382" "05611" "00467175" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352383" "05611" "00467176" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352384" "05611" "00467177" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352385" "05611" "00467178" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352386" "05611" "00467179" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352387" "05611" "00467180" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352388" "05611" "00467181" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352389" "05611" "00467182" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352390" "05611" "00467183" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352391" "05611" "00467184" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352392" "05611" "00467185" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352393" "05611" "00467186" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352394" "05611" "00467187" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352395" "05611" "00467188" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352396" "05611" "00467189" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352397" "05611" "00467190" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352398" "05611" "00467191" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352399" "05611" "00467192" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352400" "00000" "00467193" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "unknown (fetus with cerebral malformation)" "0000352401" "00000" "00467194" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance), 14m-hearing impairment, normal developpement" "" "" "" "" "" "" "" "hearing impairment, normal developpement" "0000352402" "05611" "00467195" "00006" "Unknown" "" "see paper; ..., inheritance likely recessive (or dominant with incomplete penetrance)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352403" "05611" "00467196" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352404" "05611" "00467197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352405" "05611" "00467198" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352406" "05611" "00467199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352407" "05611" "00467200" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352408" "05611" "00467201" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352409" "05611" "00467202" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352410" "05611" "00467203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352411" "05611" "00467204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352412" "05611" "00467205" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352413" "05611" "00467206" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352414" "05611" "00467207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352415" "05611" "00467208" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352416" "05611" "00467209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352417" "05611" "00467210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352418" "05611" "00467211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352419" "05611" "00467212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352420" "05611" "00467213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352421" "05611" "00467214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI4" "neurodevelopmental disorder" "0000352422" "05611" "00467215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI4" "neurodevelopmental disorder" "0000352423" "05611" "00467216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352424" "05611" "00467217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI2" "neurodevelopmental disorder" "0000352425" "05611" "00467218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352426" "05611" "00467219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI4" "neurodevelopmental disorder" "0000352427" "05611" "00467220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI3" "neurodevelopmental disorder" "0000352428" "05611" "00467221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI1" "neurodevelopmental disorder" "0000352429" "05611" "00467222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI2" "neurodevelopmental disorder" "0000352430" "05611" "00467223" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI1" "neurodevelopmental disorder" "0000352431" "05611" "00467224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI1" "neurodevelopmental disorder" "0000352432" "05611" "00467225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352433" "05611" "00467226" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352434" "05611" "00467227" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352435" "05611" "00467228" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352436" "05611" "00467229" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352437" "05611" "00467230" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352438" "05611" "00467231" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352439" "05611" "00467232" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352440" "05611" "00467233" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352441" "05611" "00467234" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352442" "05611" "00467235" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352443" "05611" "00467236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352444" "05611" "00467237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352445" "05611" "00467238" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352446" "05611" "00467239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352447" "00000" "00467240" "00006" "Familial, autosomal recessive" "" "see paper; ..., primary ovarian insufficiency" "" "" "" "" "" "" "OI11" "primary ovarian insufficiency" "0000352448" "05611" "00467241" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI11" "neurodevelopmental disorder" "0000352449" "00000" "00467242" "00006" "Familial, autosomal recessive" "" "see paper; ..., chronic kidney disease, hearing impairment, macrocephaly" "" "" "" "" "" "" "" "chronic kidney disease, hearing impairment, macrocephaly" "0000352450" "05611" "00467243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352451" "05611" "00467244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352452" "05611" "00467245" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352453" "05611" "00467246" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352454" "05611" "00467247" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352455" "05611" "00467248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352456" "05611" "00467249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352457" "05611" "00467250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352458" "05611" "00467251" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352459" "05611" "00467252" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352460" "05611" "00467253" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352461" "05611" "00467254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352462" "05611" "00467255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352463" "05611" "00467256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "OI6" "neurodevelopmental disorder" "0000352464" "05611" "00467257" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352465" "05611" "00467258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000352466" "00000" "00467259" "00006" "Familial, autosomal recessive" "" "see paper; ..., fetus with ascites, megacystis, hepatosplenomegaly, dilated abdomen" "" "" "" "" "" "" "" "unknown (fetus with ascites, megacystis, hepatosplenomegaly, dilated abdomen)" "0000352467" "05611" "00467261" "00006" "Isolated (sporadic)" "5m3d" "see paper; ..., global developmental delay, intellectual disability, fine motor delay, seizures, eczema, respiratory infection" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352468" "05611" "00467262" "00006" "Isolated (sporadic)" "1y20d" "see paper; ..., global developmental delay, ventricular septal defect, hypotonia" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000352469" "05611" "00467263" "00006" "Isolated (sporadic)" "6m11d" "see paper; ..., global developmental delay, hypotonia, gross motor delay; MRI brain symmetric hyperintensity bilateral globus pallidus, slightly widened extracerebral space right frontal lobe" "" "" "" "" "" "" "DEE119" "neurodevelopmental disorder" "0000358888" "06906" "00474088" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "DEE119" "developmental and epileptic encephalopathy" "0000364717" "05611" "00480225" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364718" "05611" "00480226" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364719" "05611" "00480227" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., motor delay; speech delay; severe intellectual disability; hypotonia; spasticity; facial dysmorphism, microcephaly, low handing columella, open-mouthed appearance" "28d" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364720" "05611" "00480228" "00006" "Familial, autosomal recessive" "10y9m" "see paper; ..., motor delay; no speech, eye contact, smiles, cries when unhappy; severe intellectual disability, no speech; truncal hypotonia; facial dysmorphism, short philtrum" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364721" "05611" "00480229" "00006" "Familial, autosomal recessive" "14y4m" "see paper; ..., motor delay; no speech, moans, makes facial expressions/rolls eyes when unhappy, smiles when happy; severe intellectual disability, no speech, better understanding than brother (e.NC_000011.10:g. localises pain/discomfort, assists with suction, happy when put into wheelchair, enjoys going out); no hypotonia; facial dysmorphism, short philtrum" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364722" "05611" "00480230" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., motor delay; no speech; severe intellectual disability; hypotonia, floppy; no spasticity; facial dysmorphism" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364723" "05611" "00480231" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., motor delay; speech delay; severe intellectual disability, no speech; hypotonia; no spasticity; facial dysmorphism, prominent upper incisors" "12m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364724" "05611" "00480232" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., motor delay; speech delay; moderate learning difficulties; hypotonia; no spasticity; facial dysmorphism, prominent upper incisors" "2y" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364725" "05611" "00480233" "00006" "Familial, autosomal recessive" "25y" "see paper; ..., motor delay; speech delay; severe intellectual disability, attended special school, unable to read/write, does not engage or use phone; hypotonia; no spasticity; facial dysmorphism, lost upper incisors following a seizure" "2y" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364726" "05611" "00480234" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., motor delay; speech delay; severe intellectual disability; hypotonia; no spasticity; facial dysmorphism, microcephaly, open-mouthed appearance" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364727" "05611" "00480235" "00006" "Familial, autosomal recessive" "19y" "see paper; ..., motor delay; speech delay; severe intellectual disability; hypotonia; no spasticity; facial dysmorphism, double hair-whorl; 3y-OFC (49cm, 2nd centile)" "9m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364728" "05611" "00480236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364729" "05611" "00480237" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364730" "05611" "00480238" "00006" "Familial, autosomal recessive" "" "see paper; ..., multiple conditions segregating separately (sib has neither variant)" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364731" "05611" "00480239" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364732" "05611" "00480240" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364733" "05611" "00480241" "00006" "Familial, autosomal recessive" "30y" "see paper; ..., motor delay; speech delay; severe intellectual disability; no hypotonia, 12m-normal tone aged; no spasticity, 12m-normal tone, normal reflexes, flexor plantars; no facial dysmorphism" "0d" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364734" "05611" "00480242" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364735" "05611" "00480243" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364736" "05611" "00480244" "00006" "Familial, autosomal recessive" "23y" "see paper; ..., no motor delay; no speech; severe intellectual disability; no hypotonia; no spasticity; facial dysmorphism, deep set eyes, low hanging columella" "1d" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364737" "05611" "00480245" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor delay; no speech; severe intellectual disability; facial hypotonia; no spasticity; facial dysmorphism, sloping forehead, facial hypotonia, protruding tongue" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364738" "05611" "00480246" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364739" "05611" "00480247" "00006" "Familial, autosomal recessive" "5y3m" "see paper; ..., motor delay; speech delay, no language; severe-profound intellectual disability; no hypotonia; brisk reflexes; no facial dysmorphism" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364740" "05611" "00480248" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364741" "05611" "00480249" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364742" "05611" "00480250" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364743" "05611" "00480251" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., no motor delay; severe speech delay; severe intellectual disability, speech single words; no hypotonia; no spasticity; no facial dysmorphism" "11m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364744" "05611" "00480252" "00006" "Familial, autosomal recessive" "17y" "see paper; ..., motor delay; severe intellectual disability, no speech; facial dysmorphism, short philtrum, brachycephaly" "7m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364745" "05611" "00480253" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., motor delay; speech delay; severe intellectual disability; hypotonia; no spasticity; facial dysmorphism, microcephaly, slight upslanting palpebral fissures, thick lips" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364746" "05611" "00480254" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364747" "05611" "00480255" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364748" "05611" "00480256" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364749" "05611" "00480257" "00006" "Familial, autosomal recessive" "20y" "see paper; ..., motor delay; speech delay, initially few words then regressed to no speech; severe intellectual disability; hypotonia; intermittently spasticity, dystonic posturing esp. right side ; facial dysmorphism, periorbital fullness, open mouth, dribbling, full lower lip," "19m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364750" "05611" "00480258" "00006" "Familial, autosomal recessive" "34y" "see paper; ..., motor delay; no speech, vocalises, groaning/repetitive sounds; severe intellectual disability; no hypotonia; no spasticity; facial dysmorphism, thickened lips, wide mouth, short philtrum, prominent forehead" "7m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364751" "05611" "00480259" "00006" "Familial, autosomal recessive" "11y" "see paper; ..., motor delay, hypermobile (mother Ehler\'s Danlos type 3); speech delay, always sociable, smiling, 4y-sentences; intellectual disability, attends specialist setting wit EHCP; no hypotonia; no spasticity; no facial dysmorphism" "7m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364752" "05611" "00480260" "00006" "Familial, autosomal recessive" "16y" "see paper; ..., motor delay; speech delay, no words; profound intellectual disability; no hypotonia; spasticity; no facial dysmorphism" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364753" "05611" "00480261" "00006" "Familial, autosomal recessive" "8y" "see paper; ..., motor delay; speech delay, no words; profound intellectual disability; no hypotonia; spasticity; facial dysmorphism, upslant palpebral fissues" "5m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364754" "05611" "00480262" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364755" "05611" "00480263" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364756" "05611" "00480264" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364757" "05611" "00480265" "00006" "Familial, autosomal recessive" "7y" "see paper; ..., motor delay; speech delay; intellectual disability; hypotonia; episodic stiffening; very subtle facial dysmorphism, epicanthic folds, broad nasal root" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364758" "05611" "00480266" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364759" "05611" "00480267" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., no motor delay; normal speech; 5.5y-specialist education with education health care plan; no hypotonia; can be rigid when putting coat on; facial dysmorphism, long smooth philtrum, prominent front teeth, slightly overturned upper ear helices; brother dyslexia" "4.5y" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364760" "05611" "00480268" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., motor delay; no speech, makes sounds but no words, cannot express wishes; intellectual disability; hypotonia; spasticity, mostly in legs; facial dysmorphism, large fleshy ear lobes, wide gap between toes, not otherwise dysmorphic" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364761" "05611" "00480269" "00006" "Familial, autosomal recessive" "5y" "see paper; ..., motor delay; severe speech delay; severe intellectual disability; hypotonia truncal, hypotonia peripheral; facial dysmorphism, bulbous nasal tip, thin upper lip, slightly up slanting palpebral fissures, prominent ears, synophrys" "2y" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364762" "05611" "00480270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364763" "05611" "00480271" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364764" "05611" "00480272" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364765" "05611" "00480273" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364766" "05611" "00480274" "00006" "Familial, autosomal recessive" "26y" "see paper; ..., motor delay; severe intellectual disability; hypotonia; no spasticity; facial dysmorphism, deep set eyes" "11m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364767" "05611" "00480275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364768" "05611" "00480276" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364769" "05611" "00480277" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., motor delay; no speech; intellectual disability; no hypotonia; spasticity; no facial dysmorphism" "9m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364770" "05611" "00480278" "00006" "Familial, autosomal recessive" "15y" "see paper; ..., motor delay; no speech; intellectual disability; mild hypotonia; spasticity; facial dysmorphism, frontal bossing, sunken eyes, slight prognathism" "7m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364771" "05611" "00480279" "00006" "Familial, autosomal recessive" "14y" "see paper; ..., motor delay; no speech; intellectual disability; no hypotonia; mild spasticity; facial dysmorphism" "10m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364772" "05611" "00480280" "00006" "Familial, autosomal recessive" "" "see paper; ..., motor delay; mild speech delay; no hypotonia; no spasticity; no facial dysmorphism; mild-mod intellectual disability; macrocephaly" "00y27m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364773" "05611" "00480281" "00006" "Familial, autosomal recessive" "13y" "see paper; ..., motor delay; speech delay, 2-3 words sentense, 9y-regression; moderate intellectual disability; no hypotonia; no spasticity" "9y3m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364774" "05611" "00480282" "00006" "Familial, autosomal recessive" "8yr8m" "see paper; ..., motor delay; no speech; severe intellectual disability; truncal hypotonia; no spasticity; facial dysmorphism, asymmetric like face, pale skin" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364775" "05611" "00480283" "00006" "Familial, autosomal recessive" "8yr10m" "see paper; ..., motor delay; no speech; severe developmental delay; truncal hypotonia; no spasticity; no facial dysmorphism" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364776" "05611" "00480284" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364777" "05611" "00480285" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364778" "05611" "00480286" "00006" "Familial, autosomal recessive" "10y" "see paper; ..., motor delay; speech delay; intellectual disability; no hypotonia; no spasticity; facial dysmorphism, prominent supra-orbital ridge, deep-set eyes, medial eyebrow flaring, synophrys, long eyelashes, thick upper vermillion border, everted lower lip" "6m" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364779" "05611" "00480287" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364780" "05611" "00480288" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "LCA10" "neurodevelopmental disorder" "0000364781" "05611" "00480289" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364782" "05611" "00480290" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364783" "05611" "00480291" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364784" "05611" "00480292" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364785" "05611" "00480293" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364786" "05611" "00480294" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364787" "05611" "00480295" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364788" "05611" "00480296" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364789" "05611" "00480297" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364790" "05611" "00480298" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364791" "05611" "00480299" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364792" "05611" "00480300" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364793" "05611" "00480301" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364794" "05611" "00480302" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364795" "05611" "00480303" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364796" "05611" "00480304" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364797" "05611" "00480305" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364798" "05611" "00480306" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364799" "05611" "00480307" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364800" "05611" "00480308" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364801" "05611" "00480309" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" "0000364802" "05611" "00480310" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "neurodevelopmental disorder" ## Screenings ## Do not remove or alter this header ## ## Count = 354 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000456527" "00454914" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456528" "00454915" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456529" "00454916" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456530" "00454917" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456531" "00454918" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456532" "00454919" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456533" "00454920" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456534" "00454921" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456535" "00454922" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456536" "00454923" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456537" "00454924" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456538" "00454925" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456539" "00454926" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456540" "00454927" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000456541" "00454928" "1" "00006" "00006" "2024-09-30 13:56:30" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468726" "00467064" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468727" "00467065" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468728" "00467066" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468729" "00467067" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468730" "00467068" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468731" "00467069" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468732" "00467070" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468733" "00467071" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468734" "00467072" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468735" "00467073" "1" "00006" "00006" "2025-10-07 21:09:55" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468745" "00467083" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468746" "00467084" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468747" "00467085" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468748" "00467086" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468749" "00467087" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468750" "00467088" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468751" "00467089" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468752" "00467090" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468753" "00467091" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468754" "00467092" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468755" "00467093" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468756" "00467094" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468757" "00467095" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468758" "00467096" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468759" "00467097" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468760" "00467098" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468761" "00467099" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468762" "00467100" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468763" "00467101" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468764" "00467102" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468765" "00467103" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468766" "00467104" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468767" "00467105" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468768" "00467106" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468769" "00467107" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468770" "00467108" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468771" "00467109" "1" "00006" "00006" "2025-10-07 22:08:47" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468772" "00467110" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468773" "00467111" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468774" "00467112" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468775" "00467113" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468776" "00467114" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468777" "00467115" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468778" "00467116" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468779" "00467117" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468780" "00467118" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468781" "00467119" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468782" "00467120" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468783" "00467121" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468784" "00467122" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468785" "00467123" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468786" "00467124" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468787" "00467125" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468788" "00467126" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468789" "00467127" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468790" "00467128" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468791" "00467129" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468792" "00467130" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468793" "00467131" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468794" "00467132" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468795" "00467133" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468796" "00467134" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468797" "00467135" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468798" "00467136" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468799" "00467137" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468800" "00467138" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468801" "00467139" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468802" "00467140" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468803" "00467141" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468804" "00467142" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468805" "00467143" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468806" "00467144" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468807" "00467145" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468808" "00467146" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468809" "00467147" "1" "00006" "00006" "2025-10-08 11:17:07" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468815" "00467152" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468816" "00467153" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468817" "00467154" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468818" "00467155" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468819" "00467156" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468820" "00467157" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468821" "00467158" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468822" "00467159" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468823" "00467160" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468824" "00467161" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468825" "00467162" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468826" "00467163" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468827" "00467164" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468828" "00467165" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468829" "00467166" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468830" "00467167" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468831" "00467168" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468832" "00467169" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468833" "00467170" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468834" "00467171" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468835" "00467172" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468836" "00467173" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468837" "00467174" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468838" "00467175" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468839" "00467176" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468840" "00467177" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468841" "00467178" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468842" "00467179" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468843" "00467180" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468844" "00467181" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468845" "00467182" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468846" "00467183" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468847" "00467184" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468848" "00467185" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468849" "00467186" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468850" "00467187" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468851" "00467188" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468852" "00467189" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468853" "00467190" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468854" "00467191" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468855" "00467192" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468856" "00467193" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468857" "00467194" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468858" "00467195" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468859" "00467196" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468860" "00467197" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468861" "00467198" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468862" "00467199" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468863" "00467200" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468864" "00467201" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468865" "00467202" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468866" "00467203" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468867" "00467204" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468868" "00467205" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468869" "00467206" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468870" "00467207" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468871" "00467208" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468872" "00467209" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468873" "00467210" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468874" "00467211" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468875" "00467212" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468876" "00467213" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468877" "00467214" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468878" "00467215" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468879" "00467216" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468880" "00467217" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468881" "00467218" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468882" "00467219" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468883" "00467220" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468884" "00467221" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468885" "00467222" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468886" "00467223" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468887" "00467224" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468888" "00467225" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468889" "00467226" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468890" "00467227" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468891" "00467228" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468892" "00467229" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468893" "00467230" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468894" "00467231" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468895" "00467232" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468896" "00467233" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468897" "00467234" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468898" "00467235" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468899" "00467236" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468900" "00467237" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468901" "00467238" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468902" "00467239" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468903" "00467240" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468904" "00467241" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468905" "00467242" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468906" "00467243" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468907" "00467244" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468908" "00467245" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468909" "00467246" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468910" "00467247" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468911" "00467248" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468912" "00467249" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468913" "00467250" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468914" "00467251" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468915" "00467252" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468916" "00467253" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468917" "00467254" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468918" "00467255" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468919" "00467256" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468920" "00467257" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468921" "00467258" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468922" "00467259" "1" "00006" "00006" "2025-10-09 14:24:42" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468923" "00467261" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468924" "00467262" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000468925" "00467263" "1" "00006" "00006" "2025-10-09 14:50:05" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000475758" "00474088" "1" "00006" "00006" "2026-03-10 17:08:41" "" "" "SEQ-PB" "DNA" "" "" "0000481871" "00480225" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481872" "00480226" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481873" "00480227" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481874" "00480228" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481875" "00480229" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481876" "00480230" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481877" "00480231" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481878" "00480232" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481879" "00480233" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481880" "00480234" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481881" "00480235" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481882" "00480236" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481883" "00480237" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481884" "00480238" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481885" "00480239" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481886" "00480240" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481887" "00480241" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481888" "00480242" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481889" "00480243" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481890" "00480244" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481891" "00480245" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481892" "00480246" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481893" "00480247" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481894" "00480248" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481895" "00480249" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481896" "00480250" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481897" "00480251" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481898" "00480252" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481899" "00480253" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481900" "00480254" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481901" "00480255" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481902" "00480256" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481903" "00480257" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481904" "00480258" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481905" "00480259" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481906" "00480260" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481907" "00480261" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481908" "00480262" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481909" "00480263" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481910" "00480264" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481911" "00480265" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481912" "00480266" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481913" "00480267" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481914" "00480268" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481915" "00480269" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "duo WES" "0000481916" "00480270" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481917" "00480271" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481918" "00480272" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481919" "00480273" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481920" "00480274" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481921" "00480275" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481922" "00480276" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481923" "00480277" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481924" "00480278" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481925" "00480279" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000481926" "00480280" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481927" "00480281" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481928" "00480282" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481929" "00480283" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481930" "00480284" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481931" "00480285" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481932" "00480286" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481933" "00480287" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481934" "00480288" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481935" "00480289" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481936" "00480290" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481937" "00480291" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481938" "00480292" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481939" "00480293" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481940" "00480294" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481941" "00480295" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481942" "00480296" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481943" "00480297" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481944" "00480298" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481945" "00480299" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481946" "00480300" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quintet WES" "0000481947" "00480301" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481948" "00480302" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481949" "00480303" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481950" "00480304" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481951" "00480305" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481952" "00480306" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481953" "00480307" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481954" "00480308" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES" "0000481955" "00480309" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481956" "00480310" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES" "0000481957" "00480311" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481958" "00480312" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481959" "00480313" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481960" "00480314" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481961" "00480315" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481962" "00480316" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481963" "00480317" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481964" "00480318" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481965" "00480319" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481966" "00480320" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481967" "00480321" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481968" "00480322" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481969" "00480323" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481970" "00480324" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481971" "00480325" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481972" "00480326" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481973" "00480327" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481974" "00480328" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481975" "00480329" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481976" "00480330" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481977" "00480331" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481978" "00480332" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481979" "00480333" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481980" "00480334" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481981" "00480335" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481982" "00480336" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481983" "00480337" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481984" "00480338" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481985" "00480339" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481986" "00480340" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481987" "00480341" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481988" "00480342" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481989" "00480343" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481990" "00480344" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481991" "00480345" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481992" "00480346" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481993" "00480347" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481994" "00480348" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481995" "00480349" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481996" "00480350" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481997" "00480351" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481998" "00480352" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000481999" "00480353" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482000" "00480354" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482001" "00480355" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482002" "00480356" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482003" "00480357" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482004" "00480358" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482005" "00480359" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482006" "00480360" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482007" "00480361" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482008" "00480362" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482009" "00480363" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482010" "00480364" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482011" "00480365" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482012" "00480366" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482013" "00480367" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482014" "00480368" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482015" "00480369" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482016" "00480370" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482017" "00480371" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482018" "00480372" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482019" "00480373" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482020" "00480374" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482021" "00480375" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" "0000482022" "00480376" "1" "00006" "00006" "2026-06-29 14:22:01" "" "" "SEQ" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 538 "{{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}}" "0001010212" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010213" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010214" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "variant not in mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010215" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010216" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010217" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010218" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010219" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "variant not in mother" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010220" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001010221" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010222" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>G" "" "pathogenic (dominant)" "" "0001010223" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010224" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010225" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.4G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001010226" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}, {DOI:Greene 2024:10.1101/2024.09.03.24312863}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048656" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048657" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048658" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048659" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048660" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048661" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048662" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048663" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048664" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048665" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Greene 2025:40210679}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048675" "0" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.3C>A" "" "De novo" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (dominant)" "" "0001048676" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048677" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048678" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048679" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048680" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048681" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048682" "11" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.3C>A" "" "Germline" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (dominant)" "" "0001048683" "0" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.3C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (dominant)" "" "0001048684" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048685" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048686" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048687" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.4G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048688" "0" "90" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000118" "g.62609277G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.5C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841805G>T" "" "pathogenic (dominant)" "" "0001048689" "0" "90" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000118" "g.62609277G>T" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.5C>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841805G>T" "" "pathogenic (dominant)" "" "0001048690" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048691" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048692" "21" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "Germline" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048693" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048694" "0" "90" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.7_8insA" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841802_62841803insT" "" "pathogenic (dominant)" "" "0001048695" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>G" "" "pathogenic (dominant)" "" "0001048696" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048697" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048698" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048699" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048700" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048701" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000002" "g.62609247T>G" "" "{PMID:Jackson 2025:40442284}" "" "ENST00000410396.1:n.35A>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048703" "1" "90" "11" "62609261" "62609264" "delins" "0" "00006" "RNU2-2_000110" "g.62609261_62609264delinsCCC" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.18_21delinsGGG" "" "Germline" "" "" "0" "" "" "g.62841789_62841792delinsCCC" "" "pathogenic (recessive)" "" "0001048704" "10" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001048705" "0" "90" "11" "62609219" "62609219" "subst" "0" "00006" "RNU2-2_000080" "g.62609219C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.63G>A" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841747C>T" "" "pathogenic (recessive)" "" "0001048706" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001048707" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001048708" "10" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.61C>T" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841749G>A" "" "pathogenic (recessive)" "" "0001048709" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048710" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048711" "11" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048712" "3" "90" "11" "62609218" "62609218" "subst" "0" "00006" "RNU2-2_000077" "g.62609218T>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.64A>G" "" "Germline" "" "" "0" "" "" "g.62841746T>C" "" "pathogenic (recessive)" "" "0001048713" "3" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048714" "3" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001048715" "3" "90" "11" "62609165" "62609165" "subst" "0" "00006" "RNU2-2_000053" "g.62609165A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.117T>C" "" "Germline" "" "" "0" "" "" "g.62841693A>G" "" "pathogenic (recessive)" "" "0001048716" "3" "90" "11" "62609155" "62609155" "subst" "0" "00006" "RNU2-2_000051" "g.62609155C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.127G>C" "" "Germline" "" "" "0" "" "" "g.62841683C>G" "" "pathogenic (recessive)" "" "0001048717" "3" "90" "11" "62609116" "62609116" "subst" "0" "00006" "RNU2-2_000021" "g.62609116C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.166G>C" "" "Germline" "" "" "0" "" "" "g.62841644C>G" "" "pathogenic (recessive)" "" "0001048718" "3" "90" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.181G>C" "" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "pathogenic (recessive)" "" "0001048719" "3" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000010" "g.62609099C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.183G>C" "" "Germline" "" "" "0" "" "" "g.62841627C>G" "" "pathogenic (recessive)" "" "0001048720" "3" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.183G>A" "" "Germline" "" "" "0" "" "" "g.62841627C>T" "" "pathogenic (recessive)" "" "0001048721" "11" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001048722" "0" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048723" "11" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001048724" "11" "70" "11" "62609108" "62609125" "dup" "0" "00006" "RNU2-2_000020" "g.62609108_62609125dup" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.159_176dup" "" "Germline" "" "" "0" "" "" "g.62841636_62841653dup" "" "likely pathogenic (recessive)" "" "0001048725" "11" "70" "11" "62609092" "62609100" "del" "0" "00006" "RNU2-2_000008" "g.62609092_62609100del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.182_190del" "" "Germline" "" "" "0" "" "" "g.62841620_62841628del" "" "likely pathogenic (recessive)" "" "0001048726" "1" "70" "11" "62609274" "62609274" "subst" "0" "00006" "RNU2-2_000115" "g.62609274G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.8C>T" "" "Germline" "" "" "0" "" "" "g.62841802G>A" "" "likely pathogenic (recessive)" "" "0001048727" "1" "70" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000113" "g.62609269G>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.13C>A" "" "Germline" "" "" "0" "" "" "g.62841797G>T" "" "likely pathogenic (recessive)" "" "0001048728" "1" "70" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.25G>A" "" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "likely pathogenic (recessive)" "" "0001048729" "1" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.28C>G" "" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "" "0001048730" "1" "70" "11" "62609243" "62609243" "subst" "0" "00006" "RNU2-2_000097" "g.62609243A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.39T>C" "" "Germline" "" "" "0" "" "" "g.62841771A>G" "" "likely pathogenic (recessive)" "" "0001048731" "1" "70" "11" "62609239" "62609239" "subst" "0" "00006" "RNU2-2_000093" "g.62609239A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.43T>C" "" "Germline" "" "" "0" "" "" "g.62841767A>G" "" "likely pathogenic (recessive)" "" "0001048732" "1" "70" "11" "62609234" "62609234" "subst" "0" "00006" "RNU2-2_000088" "g.62609234T>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.48A>G" "" "Germline" "" "" "0" "" "" "g.62841762T>C" "" "likely pathogenic (recessive)" "" "0001048733" "1" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.61C>T" "" "Germline" "" "" "0" "" "" "g.62841749G>A" "" "pathogenic (recessive)" "" "0001048734" "1" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "" "0001048735" "1" "70" "11" "62609201" "62609201" "subst" "0" "00006" "RNU2-2_000070" "g.62609201C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.81G>A" "" "Germline" "" "" "0" "" "" "g.62841729C>T" "" "likely pathogenic (recessive)" "" "0001048736" "1" "70" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000047" "g.62609153A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.129T>G" "" "Germline" "" "" "0" "" "" "g.62841681A>C" "" "likely pathogenic (recessive)" "" "0001048737" "1" "70" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000048" "g.62609153A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.129T>C" "" "Germline" "" "" "0" "" "" "g.62841681A>G" "" "likely pathogenic (recessive)" "" "0001048738" "1" "70" "11" "62609103" "62609111" "del" "0" "00006" "RNU2-2_000016" "g.62609103_62609111del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.171_179del" "" "Germline" "" "" "0" "" "" "g.62841631_62841639del" "" "likely pathogenic (recessive)" "" "0001048739" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001048740" "21" "90" "11" "62609230" "62609230" "subst" "0" "00006" "RNU2-2_000085" "g.62609230C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.52G>A" "" "Germline" "" "" "0" "" "" "g.62841758C>T" "" "pathogenic (recessive)" "" "0001048741" "21" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001048742" "21" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001048743" "2" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001048744" "2" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.183G>A" "" "Germline" "" "" "0" "" "" "g.62841627C>T" "" "pathogenic (recessive)" "" "0001048745" "21" "50" "11" "62609215" "62609215" "subst" "0" "00006" "RNU2-2_000075" "g.62609215G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.67C>T;183_184insA" "" "Germline" "" "" "0" "" "" "g.62841743G>A" "" "VUS" "" "0001048746" "21" "70" "11" "62609098" "62609099" "ins" "0" "00006" "RNU2-2_000009" "g.62609098_62609099insT" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.67C>T;183_184insA" "" "Germline" "" "" "0" "" "" "g.62841626_62841627insT" "" "likely pathogenic (recessive)" "" "0001048747" "21" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>G" "" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "" "0001048748" "21" "70" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.31G>A" "" "Germline" "" "" "0" "" "" "g.62841779C>T" "" "likely pathogenic (recessive)" "" "0001048749" "21" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.100T>G" "" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "likely pathogenic (recessive)" "" "0001048750" "21" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048751" "21" "70" "11" "62609134" "62609134" "subst" "0" "00006" "RNU2-2_000036" "g.62609134G>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.148C>A" "" "Germline" "" "" "0" "" "" "g.62841662G>T" "" "likely pathogenic (recessive)" "" "0001048752" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>G" "" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "" "0001048753" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.100T>G" "" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "likely pathogenic (recessive)" "" "0001048754" "2" "70" "11" "62609151" "62609151" "subst" "0" "00006" "RNU2-2_000045" "g.62609151C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.131G>C" "" "Germline" "" "" "0" "" "" "g.62841679C>G" "" "likely pathogenic (recessive)" "" "0001048755" "2" "70" "11" "62609124" "62609124" "subst" "0" "00006" "RNU2-2_000024" "g.62609124C>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.158G>C" "" "Germline" "" "" "0" "" "" "g.62841652C>G" "" "likely pathogenic (recessive)" "" "0001048756" "2" "70" "11" "62609202" "62609203" "ins" "0" "00006" "RNU2-2_000072" "g.62609202_62609203insA" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.79_80insT" "" "Germline" "" "" "0" "" "" "g.62841730_62841731insA" "" "likely pathogenic (recessive)" "" "0001048757" "2" "70" "11" "62609107" "62609107" "subst" "0" "00006" "RNU2-2_000018" "g.62609107C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.175G>A" "" "Germline" "" "" "0" "" "" "g.62841635C>T" "" "likely pathogenic (recessive)" "" "0001048758" "2" "70" "11" "62609176" "62609176" "subst" "0" "00006" "RNU2-2_000060" "g.62609176C>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.106G>A" "" "Germline" "" "" "0" "" "" "g.62841704C>T" "" "likely pathogenic (recessive)" "" "0001048759" "2" "70" "11" "62609144" "62609144" "subst" "0" "00006" "RNU2-2_000041" "g.62609144G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.138C>T" "" "Germline" "" "" "0" "" "" "g.62841672G>A" "" "likely pathogenic (recessive)" "" "0001048760" "2" "70" "11" "62609065" "62609096" "del" "0" "00006" "RNU2-2_000006" "g.62609065_62609096del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "" "" "Germline" "" "" "0" "" "" "g.62841593_62841624del" "" "likely pathogenic (recessive)" "" "0001048761" "2" "70" "11" "62609130" "62609130" "subst" "0" "00006" "RNU2-2_000032" "g.62609130C>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.152G>T" "" "Germline" "" "" "0" "" "" "g.62841658C>A" "" "likely pathogenic (recessive)" "" "0001048762" "2" "70" "11" "62609127" "62609127" "subst" "0" "00006" "RNU2-2_000028" "g.62609127G>A" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.155C>T" "" "Germline" "" "" "0" "" "" "g.62841655G>A" "" "likely pathogenic (recessive)" "" "0001048763" "2" "70" "11" "62609147" "62609147" "subst" "0" "00006" "RNU2-2_000043" "g.62609147G>C" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.135C>G" "" "Germline" "" "" "0" "" "" "g.62841675G>C" "" "likely pathogenic (recessive)" "" "0001048764" "2" "70" "11" "62609088" "62609113" "del" "0" "00006" "RNU2-2_000007" "g.62609088_62609113del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "g.62841615_62841640del" "" "Germline" "" "" "0" "" "" "g.62841616_62841641del" "" "likely pathogenic (recessive)" "" "0001048765" "11" "70" "11" "62609108" "62609125" "dup" "0" "00006" "RNU2-2_000020" "g.62609108_62609125dup" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.159_176dup" "" "Germline" "" "" "0" "" "" "g.62841636_62841653dup" "" "likely pathogenic (recessive)" "" "0001048766" "21" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001048767" "11" "70" "11" "62609092" "62609100" "del" "0" "00006" "RNU2-2_000008" "g.62609092_62609100del" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.182_190del" "" "Germline" "" "" "0" "" "" "g.62841620_62841628del" "" "likely pathogenic (recessive)" "" "0001048768" "21" "70" "11" "62609134" "62609134" "subst" "0" "00006" "RNU2-2_000036" "g.62609134G>T" "" "{PMID:Greene 2025:40909831}, {DOI:Greene 2025:10.1101/2025.08.26.25334179}" "" "n.148C>A" "" "Germline" "" "" "0" "" "" "g.62841662G>T" "" "likely pathogenic (recessive)" "" "0001048800" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048801" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048802" "2" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048803" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048804" "21" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048805" "21" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048806" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048807" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048808" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048809" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048810" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048811" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048812" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048813" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048814" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048815" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048816" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048817" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.4G>A" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "ACMG" "0001048818" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; somatic variant (blood 0.1 (678/5218 reads), urine 0.20 (1181/5659 reads), buccal 0.25 (574/2267 reads)" "Somatic" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048819" "21" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048820" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048821" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048822" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048823" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048824" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048825" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048826" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048827" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048828" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048829" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.35A>G" "ACMG PS2_supp, PM1, PM2_supp, PS4, PP5_Moderate" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "ACMG" "0001048830" "0" "70" "11" "62609276" "62609276" "subst" "0" "00006" "RNU2-2_000117" "g.62609276A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.6T>C" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841804A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048831" "0" "50" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.7_8insA" "ACMG PS2_supp, PM1, PM2_supp, PS4_supp" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "VUS" "ACMG" "0001048832" "0" "50" "11" "62609274" "62609274" "subst" "0" "00006" "RNU2-2_000115" "g.62609274G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.8C>T" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841802G>A" "" "VUS" "ACMG" "0001048833" "0" "50" "11" "62609261" "62609261" "subst" "0" "00006" "RNU2-2_000109" "g.62609261G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.21C>G" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841789G>C" "" "VUS" "ACMG" "0001048834" "0" "50" "11" "62609244" "62609244" "subst" "0" "00006" "RNU2-2_000098" "g.62609244T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.38A>G" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841772T>C" "" "VUS" "ACMG" "0001048835" "0" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1; de novo variant on maternal allele" "De novo" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic" "ACMG" "0001048836" "0" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "De novo" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic" "ACMG" "0001048837" "0" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "De novo" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic" "ACMG" "0001048838" "0" "50" "11" "62609220" "62609220" "subst" "0" "00006" "RNU2-2_000082" "g.62609220A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.62T>G" "ACMG PS2_supp, PM1_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841748A>C" "" "VUS" "ACMG" "0001048839" "0" "50" "11" "62609218" "62609219" "ins" "0" "00006" "RNU2-2_000078" "g.62609218_62609219insG" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.63_64insC" "ACMG PS2_supp, PM1_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841746_62841747insG" "" "VUS" "ACMG" "0001048840" "0" "50" "11" "62609173" "62609173" "subst" "0" "00006" "RNU2-2_000058" "g.62609173T>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.109A>T" "ACMG PS2_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841701T>A" "" "VUS" "ACMG" "0001048841" "0" "50" "11" "62609144" "62609154" "del" "0" "00006" "RNU2-2_000042" "g.62609144_62609154del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.129_139del" "ACMG PM1_supp, PS2_supp, PM2_supp; de novo variant on paternal allele" "De novo" "" "" "0" "" "" "g.62841672_62841682del" "" "VUS" "ACMG" "0001048842" "0" "50" "11" "62609116" "62609140" "del" "0" "00006" "RNU2-2_000022" "g.62609116_62609140del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.143_167del" "ACMG PS2_supp, PM1_supp, PM2_supp; de novo variant on paternal allele" "De novo" "" "" "0" "" "" "g.62841644_62841668del" "" "VUS" "ACMG" "0001048843" "0" "50" "11" "62609132" "62609132" "subst" "0" "00006" "RNU2-2_000034" "g.62609132A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.150T>G" "ACMG PM1_supp, PS2_supp, PM2_supp" "De novo" "" "" "0" "" "" "g.62841660A>C" "" "VUS" "ACMG" "0001048844" "0" "50" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000118" "g.62609277G>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.5C>A" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841805G>T" "" "VUS" "ACMG" "0001048845" "2" "50" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000119" "g.62609277G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.5C>T" "ACMG PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841805G>A" "" "VUS" "ACMG" "0001048846" "0" "70" "11" "62609276" "62609276" "subst" "0" "00006" "RNU2-2_000117" "g.62609276A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.6T>C" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp" "De novo" "" "" "0" "" "" "g.62841804A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048847" "0" "50" "11" "62609274" "62609275" "ins" "0" "00006" "RNU2-2_000116" "g.62609274_62609275insT" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.7_8insA" "ACMG PS2_supp, PM1, PM2_supp, PS4_supp" "De novo" "" "" "0" "" "" "g.62841802_62841803insT" "" "VUS" "ACMG" "0001048848" "1" "50" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000114" "g.62609269G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.13C>T" "ACMG PS2_supp, PM1" "Germline" "" "" "0" "" "" "g.62841797G>A" "" "VUS" "ACMG" "0001048849" "0" "50" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000114" "g.62609269G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.13C>T" "ACMG PS2_supp, PM1; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841797G>A" "" "VUS" "ACMG" "0001048850" "3" "50" "11" "62609247" "62609265" "dup" "0" "00006" "RNU2-2_000099" "g.62609247_62609265dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.17_35dup" "ACMG PM1, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841775_62841793dup" "" "VUS" "ACMG" "0001048851" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048852" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048853" "1" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048854" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.20G>A" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048855" "1" "50" "11" "62609258" "62609258" "subst" "0" "00006" "RNU2-2_000107" "g.62609258T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.24A>G" "ACMG PM1, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841786T>C" "" "VUS" "ACMG" "0001048856" "3" "50" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.25G>A" "ACMG PS4_Moderate, PM1" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "VUS" "ACMG" "0001048857" "3" "50" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.25G>A" "ACMG PS4_Moderate, PM1" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "VUS" "ACMG" "0001048858" "2" "50" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.25G>A" "ACMG PS4_Moderate, PM1" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "VUS" "ACMG" "0001048859" "1" "50" "11" "62609256" "62609256" "subst" "0" "00006" "RNU2-2_000105" "g.62609256T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.26A>G" "ACMG PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841784T>C" "" "VUS" "ACMG" "0001048860" "0" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.28C>G" "ACMG PS4_Moderate, PM1, PM3, PP1; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048861" "1" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.28C>G" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048862" "3" "50" "11" "62609252" "62609252" "subst" "0" "00006" "RNU2-2_000103" "g.62609252T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.30A>G" "ACMG PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841780T>C" "" "VUS" "ACMG" "0001048863" "0" "50" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.31G>A" "ACMG PS2_supp, PM1, PM2_supp" "De novo" "" "" "0" "" "" "g.62841779C>T" "" "VUS" "ACMG" "0001048864" "2" "50" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.31G>A" "ACMG PS2_supp, PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841779C>T" "" "VUS" "ACMG" "0001048865" "0" "70" "11" "62609250" "62609250" "subst" "0" "00006" "RNU2-2_000100" "g.62609250A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.32T>G" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp, PP1" "De novo" "" "" "0" "" "" "g.62841778A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048866" "2" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048867" "0" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "De novo" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic (recessive)" "ACMG" "0001048868" "1" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048869" "1" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048870" "2" "70" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000096" "g.62609242G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>G" "ACMG PS4, PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841770G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048871" "2" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic (recessive)" "ACMG" "0001048872" "1" "50" "11" "62609238" "62609238" "subst" "0" "00006" "RNU2-2_000092" "g.62609238A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.44T>C" "ACMG PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841766A>G" "" "VUS" "ACMG" "0001048873" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048874" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048875" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048876" "0" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048877" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048878" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048879" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048880" "0" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048881" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048882" "1" "50" "11" "62609236" "62609236" "subst" "0" "00006" "RNU2-2_000090" "g.62609236A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.46T>G" "ACMG PM2_supp" "Germline" "" "" "0" "" "" "g.62841764A>C" "" "VUS" "ACMG" "0001048883" "1" "50" "11" "62609234" "62609234" "subst" "0" "00006" "RNU2-2_000089" "g.62609234T>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.48A>C" "ACMG PM2_supp, PM1_supp" "Germline" "" "" "0" "" "" "g.62841762T>G" "" "VUS" "ACMG" "0001048884" "3" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>G" "ACMG PS4_Moderate, PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048885" "1" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>G" "ACMG PS4_Moderate, PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048886" "2" "50" "11" "62609218" "62609219" "ins" "0" "00006" "RNU2-2_000079" "g.62609218_62609219insA" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.63_64insT" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841746_62841747insA" "" "VUS" "ACMG" "0001048887" "1" "50" "11" "62609202" "62609209" "dup" "0" "00006" "RNU2-2_000073" "g.62609202_62609209dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.73_80dup" "ACMG PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841730_62841737dup" "" "VUS" "ACMG" "0001048888" "3" "50" "11" "62609186" "62609186" "subst" "0" "00006" "RNU2-2_000069" "g.62609186A>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.96T>A" "ACMG PM2_supp" "Germline" "" "" "0" "" "" "g.62841714A>T" "" "VUS" "ACMG" "0001048889" "3" "50" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>G" "ACMG PS2_supp, PM1, PP1" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "VUS" "ACMG" "0001048890" "2" "50" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000066" "g.62609182A>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>A" "ACMG PM1" "Germline" "" "" "0" "" "" "g.62841710A>T" "" "VUS" "ACMG" "0001048891" "3" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>C" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048892" "3" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>G" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048893" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>G" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048894" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>C" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048895" "1" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048896" "3" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048897" "1" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048898" "1" "50" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.107_118del" "ACMG PS4_Moderate, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "VUS" "ACMG" "0001048899" "1" "50" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.116_127del" "ACMG PS2_supp" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "VUS" "ACMG" "0001048900" "2" "50" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.116_127del" "ACMG PS2_supp" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "VUS" "ACMG" "0001048901" "3" "50" "11" "62609154" "62609154" "subst" "0" "00006" "RNU2-2_000049" "g.62609154G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.128C>T" "ACMG PS2_supp, PM1_supp" "Germline" "" "" "0" "" "" "g.62841682G>A" "" "VUS" "ACMG" "0001048902" "3" "50" "11" "62609129" "62609140" "dup" "0" "00006" "RNU2-2_000031" "g.62609129_62609140dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.142_153dup" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841657_62841668dup" "" "VUS" "ACMG" "0001048903" "0" "50" "11" "62609140" "62609140" "subst" "0" "00006" "RNU2-2_000040" "g.62609140A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.142T>C" "ACMG PM1_supp" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841668A>G" "" "VUS" "ACMG" "0001048904" "2" "50" "11" "62609133" "62609133" "subst" "0" "00006" "RNU2-2_000035" "g.62609133T>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.149A>T" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841661T>A" "" "VUS" "ACMG" "0001048905" "3" "50" "11" "62609130" "62609130" "subst" "0" "00006" "RNU2-2_000033" "g.62609130C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.152G>A" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841658C>T" "" "VUS" "ACMG" "0001048906" "3" "50" "11" "62609167" "62609167" "subst" "0" "00006" "RNU2-2_000056" "g.62609167C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[115G>A;155C>G]" "" "Germline" "" "" "0" "" "" "g.62841695C>T" "" "VUS" "" "0001048907" "1" "50" "11" "62609108" "62609108" "subst" "0" "00006" "RNU2-2_000019" "g.62609108T>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.174A>C" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841636T>G" "" "VUS" "ACMG" "0001048908" "1" "50" "11" "62609202" "62609202" "subst" "0" "00006" "RNU2-2_000071" "g.62609202T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.80A>G" "ACMG PS2_supp" "Germline" "" "" "0" "" "" "g.62841730T>C" "" "VUS" "ACMG" "0001048909" "1" "50" "11" "62609173" "62609173" "subst" "0" "00006" "RNU2-2_000059" "g.62609173T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.109A>G" "ACMG PS2_supp, PM1, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841701T>C" "" "VUS" "ACMG" "0001048910" "0" "50" "11" "62609139" "62609139" "subst" "0" "00006" "RNU2-2_000039" "g.62609139G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.143C>G" "ACMG PM1_supp; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841667G>C" "" "VUS" "ACMG" "0001048911" "11" "50" "11" "62609210" "62609218" "dup" "0" "00006" "RNU2-2_000074" "g.62609210_62609218dup" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.64_72dup" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841738_62841746dup" "" "VUS" "ACMG" "0001048912" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048913" "1" "50" "11" "62609137" "62609137" "subst" "0" "00006" "RNU2-2_000037" "g.62609137T>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.145A>T" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841665T>A" "" "VUS" "ACMG" "0001048914" "2" "50" "11" "62609259" "62609259" "subst" "0" "00006" "RNU2-2_000108" "g.62609259T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.23A>G" "ACMG PM1, PM2_supp" "Germline" "" "" "0" "" "" "g.62841787T>C" "" "VUS" "ACMG" "0001048915" "2" "50" "11" "62609181" "62609181" "subst" "0" "00006" "RNU2-2_000064" "g.62609181A>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.101T>A" "ACMG PM1" "Germline" "" "" "0" "" "" "g.62841709A>T" "" "VUS" "ACMG" "0001048916" "1" "70" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.28C>G" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048917" "1" "50" "11" "62609250" "62609250" "subst" "0" "00006" "RNU2-2_000101" "g.62609250A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.32T>C" "ACMG PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841778A>G" "" "VUS" "ACMG" "0001048918" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.45C>T" "ACMG PS4, PM1, PM3, PP1_Moderate" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "ACMG" "0001048919" "0" "50" "11" "62609137" "62609137" "subst" "0" "00006" "RNU2-2_000038" "g.62609137T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.145A>G" "ACMG PM1_supp, PM3; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841665T>C" "" "VUS" "ACMG" "0001048920" "2" "50" "11" "62609154" "62609154" "subst" "0" "00006" "RNU2-2_000049" "g.62609154G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.128C>T" "ACMG PS2_supp, PM1_supp" "Germline" "" "" "0" "" "" "g.62841682G>A" "" "VUS" "ACMG" "0001048921" "1" "50" "11" "62609120" "62609124" "del" "0" "00006" "RNU2-2_000023" "g.62609120_62609124del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.159_163del" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841648_62841652del" "" "VUS" "ACMG" "0001048922" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048923" "2" "70" "11" "62609250" "62609250" "subst" "0" "00006" "RNU2-2_000100" "g.62609250A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.32T>G" "ACMG PS2_supp, PM1, PM2_supp, PM3, PS4_supp, PP1" "Germline" "" "" "0" "" "" "g.62841778A>C" "" "likely pathogenic (recessive)" "ACMG" "0001048924" "2" "90" "11" "62609242" "62609242" "subst" "0" "00006" "RNU2-2_000095" "g.62609242G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.40C>T" "ACMG PS4, PS2_supp, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841770G>A" "" "pathogenic (recessive)" "ACMG" "0001048925" "1" "50" "11" "62609107" "62609107" "subst" "0" "00006" "RNU2-2_000018" "g.62609107C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.175G>A" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841635C>T" "" "VUS" "ACMG" "0001048926" "1" "50" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.181G>C" "ACMG PS2_supp, PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "VUS" "ACMG" "0001048927" "2" "50" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.99A>G" "ACMG PM1, PM3, BS2" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "VUS" "ACMG" "0001048928" "1" "50" "11" "62609240" "62609240" "subst" "0" "00006" "RNU2-2_000094" "g.62609240C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.42G>A" "ACMG PM1, PM3, PM2_supp" "Germline" "" "" "0" "" "" "g.62841768C>T" "" "VUS" "ACMG" "0001048929" "2" "70" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>G" "ACMG PS4_Moderate, PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "likely pathogenic (recessive)" "ACMG" "0001048930" "2" "70" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.104T>C" "ACMG PS4_Moderate, PM1, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048931" "0" "50" "11" "62609169" "62609169" "subst" "0" "00006" "RNU2-2_000057" "g.62609169C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.113G>A" "ACMG PM3; variant not in parent 1" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841697C>T" "" "VUS" "ACMG" "0001048932" "1" "50" "11" "62609150" "62609150" "subst" "0" "00006" "RNU2-2_000044" "g.62609150G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.132C>T" "ACMG PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841678G>A" "" "VUS" "ACMG" "0001048933" "1" "50" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000012" "g.62609099C>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.183G>T" "ACMG PM1_supp, PM2_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841627C>A" "" "VUS" "ACMG" "0001048934" "2" "70" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[20G>A;49T>C]" "ACMG PS4, PM1" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "likely pathogenic (recessive)" "ACMG" "0001048935" "2" "50" "11" "62609233" "62609233" "subst" "0" "00006" "RNU2-2_000087" "g.62609233A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[20G>A;49T>C]" "" "Germline" "" "" "0" "" "" "g.62841761A>G" "" "VUS" "" "0001048936" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048937" "2" "50" "11" "62609180" "62609181" "delins" "0" "00006" "RNU2-2_000063" "g.62609180_62609181delinsCT" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.101_102delinsAG" "ACMG PM1, PM3, PM2_supp" "Germline" "" "" "0" "" "" "g.62841708_62841709delinsCT" "" "VUS" "ACMG" "0001048938" "2" "50" "11" "62609154" "62609154" "subst" "0" "00006" "RNU2-2_000050" "g.62609154G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.128C>G" "ACMG PM1_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841682G>C" "" "VUS" "ACMG" "0001048939" "2" "50" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000047" "g.62609153A>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.129T>G" "ACMG PM1_supp, PM2_supp, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841681A>C" "" "VUS" "ACMG" "0001048940" "2" "50" "11" "62609151" "62609151" "subst" "0" "00006" "RNU2-2_000046" "g.62609151C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.131G>A" "ACMG PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841679C>T" "" "VUS" "ACMG" "0001048941" "2" "50" "11" "62609219" "62609219" "subst" "0" "00006" "RNU2-2_000081" "g.62609219C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.63G>C" "ACMG PM2_supp, PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841747C>G" "" "VUS" "ACMG" "0001048942" "1" "50" "11" "62609126" "62609138" "del" "0" "00006" "RNU2-2_000027" "g.62609126_62609138del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.144_156del" "ACMG PM1_supp, PM2_supp, PM3" "Germline" "" "" "0" "" "" "g.62841654_62841666del" "" "VUS" "ACMG" "0001048943" "2" "50" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000014" "g.62609101C>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.181G>T" "ACMG PM1_supp, PM2_supp" "Germline" "" "" "0" "" "" "g.62841629C>A" "" "VUS" "ACMG" "0001048944" "2" "50" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.61C>T" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841749G>A" "" "VUS" "ACMG" "0001048945" "2" "50" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.181G>C" "ACMG PS2_supp, PM1_supp, PM3" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "VUS" "ACMG" "0001048946" "1" "50" "11" "62609216" "62609216" "subst" "0" "00006" "RNU2-2_000076" "g.62609216T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.66A>G" "ACMG PM1_supp, PP1" "Germline" "" "" "0" "" "" "g.62841744T>C" "" "VUS" "ACMG" "0001048947" "2" "70" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000067" "g.62609182A>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.100T>C" "ACMG PS4_Moderate, PM1, PM3, PP1" "Germline" "" "" "0" "" "" "g.62841710A>G" "" "likely pathogenic (recessive)" "ACMG" "0001048948" "1" "50" "11" "62609102" "62609102" "subst" "0" "00006" "RNU2-2_000015" "g.62609102C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.180G>A" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841630C>T" "" "VUS" "ACMG" "0001048949" "1" "50" "11" "62609125" "62609125" "subst" "0" "00006" "RNU2-2_000025" "g.62609125C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.157G>C" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841653C>G" "" "VUS" "ACMG" "0001048950" "1" "90" "11" "62607921" "62609235" "del" "0" "00006" "RNU2-2_000005" "g.62607921_62609235del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "del 62840448-62841762 (n.-1_*1176del)" "partial gene deletion" "Germline" "" "" "0" "" "" "g.62840449_62841763del" "" "pathogenic (recessive)" "" "0001048951" "2" "50" "11" "62609166" "62609177" "del" "0" "00006" "RNU2-2_000055" "g.62609166_62609177del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.105_116del" "ACMG PM2_supp" "Germline" "" "" "0" "" "" "g.62841694_62841705del" "" "VUS" "ACMG" "0001048952" "2" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.154C>T" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "ACMG" "0001048953" "2" "50" "11" "62609125" "62609125" "subst" "0" "00006" "RNU2-2_000026" "g.62609125C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.157G>A" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841653C>T" "" "VUS" "ACMG" "0001048954" "2" "50" "11" "62609232" "62609232" "subst" "0" "00006" "RNU2-2_000086" "g.62609232G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.50C>G" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841760G>C" "" "VUS" "ACMG" "0001048955" "0" "50" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.183G>A" "ACMG PM1_supp; variant not in parent 2" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841627C>T" "" "VUS" "ACMG" "0001048956" "0" "50" "11" "62609202" "62609202" "subst" "0" "00006" "RNU2-2_000071" "g.62609202T>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.80A>G" "ACMG PS2_supp" "Germline/De novo (untested)" "" "" "0" "" "" "g.62841730T>C" "" "VUS" "ACMG" "0001048957" "2" "90" "11" "62549272" "63191965" "del" "0" "00006" "RNU2-2_000004" "g.62549272_63191965del" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "del 62781800-63424493" "642kb whole gene deletion" "Germline" "" "" "0" "" "" "g.62781800_63424493del" "" "pathogenic (recessive)" "" "0001048958" "2" "50" "11" "62609106" "62609106" "subst" "0" "00006" "RNU2-2_000017" "g.62609106C>G" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.176G>C" "ACMG PM1_supp" "Germline" "" "" "0" "" "" "g.62841634C>G" "" "VUS" "ACMG" "0001048959" "3" "50" "11" "62609127" "62609127" "subst" "0" "00006" "RNU2-2_000029" "g.62609127G>C" "" "{PMID:Leitao 2025:40950445}, {DOI:Leitao 2025:10.1101/2025.09.02.25334923}" "" "n.[115G>A;155C>G]" "ACMG PM1_supp, PM2_supp, PP1" "Germline" "" "" "0" "" "" "g.62841655G>C" "" "VUS" "ACMG" "0001048960" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001048961" "0" "90" "11" "62609247" "62609247" "subst" "0" "00006" "RNU2-2_000001" "g.62609247T>C" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "n.35A>G" "" "De novo" "" "" "0" "" "" "g.62841775T>C" "" "pathogenic (dominant)" "" "0001048962" "0" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Fan 2025:40968615}, {DOI:Fan 2025:10.1111/cge.70069}" "" "n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001065494" "0" "10" "11" "62609160" "62609160" "dup" "0" "02325" "RNU2-2_000121" "g.62609160dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001065495" "0" "10" "11" "62609162" "62609162" "dup" "0" "02325" "RNU2-2_000122" "g.62609162dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001065496" "0" "50" "11" "62609186" "62609186" "subst" "0" "02325" "RNU2-2_000123" "g.62609186A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001070316" "21" "90" "11" "62609278" "62609278" "subst" "0" "00006" "RNU2-2_000003" "g.62609278C>T" "" "{PMID:Boukas 2026:41795468}" "" "NR_199791.1:n.4G>A" "" "De novo" "" "" "0" "" "" "g.62841806C>T" "" "pathogenic (dominant)" "" "0001078806" "3" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000010" "g.62609099C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.183G>C" "" "Germline" "" "" "0" "" "" "g.62841627C>G" "" "pathogenic (recessive)" "" "0001078807" "3" "90" "11" "62609101" "62609101" "subst" "0" "00006" "RNU2-2_000013" "g.62609101C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.181G>C" "" "Germline" "" "" "0" "" "" "g.62841629C>G" "" "pathogenic (recessive)" "" "0001078808" "3" "90" "11" "62609116" "62609116" "subst" "0" "00006" "RNU2-2_000021" "g.62609116C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.166G>C" "" "Germline" "" "" "0" "" "" "g.62841644C>G" "" "pathogenic (recessive)" "" "0001078809" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "yes" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078810" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "yes" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078811" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078812" "3" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "" "Germline" "yes" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001078813" "3" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "" "Germline" "yes" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001078814" "3" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "" "Germline" "yes" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001078815" "3" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001078816" "3" "90" "11" "62609155" "62609155" "subst" "0" "00006" "RNU2-2_000051" "g.62609155C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.127G>C" "" "Germline" "" "" "0" "" "" "g.62841683C>G" "" "pathogenic (recessive)" "" "0001078817" "1" "90" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.100T>G" "" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "pathogenic (recessive)" "" "0001078818" "1" "90" "11" "62609065" "62609097" "del" "0" "00006" "chr11_008635" "g.62609065_62609097del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.186_*27del" "" "Germline" "" "" "0" "" "" "g.62841593_62841625del" "" "pathogenic (recessive)" "" "0001078819" "1" "90" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "pathogenic (recessive)" "" "0001078820" "1" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>T" "" "Germline" "" "" "0" "" "" "g.62841749G>A" "" "pathogenic (recessive)" "" "0001078821" "1" "90" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "pathogenic (recessive)" "" "0001078822" "1" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>G" "" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "pathogenic (recessive)" "" "0001078823" "1" "90" "11" "62609144" "62609144" "subst" "0" "00006" "RNU2-2_000041" "g.62609144G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.138C>T" "" "Germline" "" "" "0" "" "" "g.62841672G>A" "" "pathogenic (recessive)" "" "0001078824" "1" "90" "11" "62609103" "62609103" "subst" "0" "00006" "chr11_008637" "g.62609103G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.179C>T" "" "Germline" "" "" "0" "" "" "g.62841631G>A" "" "pathogenic (recessive)" "" "0001078825" "1" "90" "11" "62609124" "62609124" "subst" "0" "00006" "RNU2-2_000024" "g.62609124C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.158G>C" "" "Germline" "yes" "" "0" "" "" "g.62841652C>G" "" "pathogenic (recessive)" "" "0001078826" "1" "90" "11" "62609124" "62609124" "subst" "0" "00006" "RNU2-2_000024" "g.62609124C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.158G>C" "" "Germline" "yes" "" "0" "" "" "g.62841652C>G" "" "pathogenic (recessive)" "" "0001078827" "1" "90" "11" "62609202" "62609203" "ins" "0" "00006" "RNU2-2_000072" "g.62609202_62609203insA" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.79_80insT" "" "Germline" "" "" "0" "" "" "g.62841730_62841731insA" "" "pathogenic (recessive)" "" "0001078828" "1" "90" "11" "62609136" "62609136" "subst" "0" "00006" "chr11_008638" "g.62609136G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.146C>T" "" "Germline" "" "" "0" "" "" "g.62841664G>A" "" "pathogenic (recessive)" "" "0001078829" "3" "50" "11" "62609150" "62609150" "subst" "0" "00006" "RNU2-2_000044" "g.62609150G>A" "" "{PMID:Jackson 2026:41912933}" "" "[132C>T;117T>C], 199791.1:n.132C>T" "" "Germline" "yes" "" "0" "" "" "g.62841678G>A" "" "VUS" "" "0001078830" "3" "50" "11" "62609150" "62609150" "subst" "0" "00006" "RNU2-2_000044" "g.62609150G>A" "" "{PMID:Jackson 2026:41912933}" "" "[132C>T;117T>C], 199791.1:n.132C>T" "" "Germline" "yes" "" "0" "" "" "g.62841678G>A" "" "VUS" "" "0001078831" "3" "50" "11" "62609150" "62609150" "subst" "0" "00006" "RNU2-2_000044" "g.62609150G>A" "" "{PMID:Jackson 2026:41912933}" "" "[132C>T;117T>C], 199791.1:n.132C>T" "" "Germline" "yes" "" "0" "" "" "g.62841678G>A" "" "VUS" "" "0001078832" "1" "90" "11" "62609153" "62609153" "subst" "0" "00006" "RNU2-2_000048" "g.62609153A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.129T>C" "" "Germline" "yes" "" "0" "" "" "g.62841681A>G" "" "pathogenic (recessive)" "" "0001078833" "1" "90" "11" "62609063" "62609093" "del" "0" "00006" "chr11_008639" "g.62609063_62609093del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.*9_*29del" "" "Germline" "yes" "" "0" "" "" "g.62841591_62841621del" "" "pathogenic (recessive)" "" "0001078834" "1" "90" "11" "62609107" "62609107" "subst" "0" "00006" "RNU2-2_000018" "g.62609107C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.175G>A" "" "Germline" "" "" "0" "" "" "g.62841635C>T" "" "pathogenic (recessive)" "" "0001078835" "1" "90" "11" "62609163" "62609174" "dup" "0" "00006" "chr11_008640" "g.62609163_62609174dup" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.116_127dup" "" "Germline" "" "" "0" "" "" "g.62841691_62841702dup" "" "pathogenic (recessive)" "" "0001078836" "1" "90" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "pathogenic (recessive)" "" "0001078837" "1" "90" "11" "62609099" "62609099" "subst" "0" "00006" "RNU2-2_000011" "g.62609099C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.183G>A" "" "Germline" "" "" "0" "" "" "g.62841627C>T" "" "pathogenic (recessive)" "" "0001078838" "1" "50" "11" "62609093" "62609093" "subst" "0" "00006" "chr11_008641" "g.62609093A>G" "" "{PMID:Jackson 2026:41912933}" "" "[189T>C;162dup], 199791.1:n.189T>C" "" "Germline" "" "" "0" "" "" "g.62841621A>G" "" "VUS" "" "0001078839" "1" "90" "11" "62609219" "62609219" "subst" "0" "00006" "RNU2-2_000080" "g.62609219C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.63G>A" "" "De novo" "" "" "0" "" "" "g.62841747C>T" "" "pathogenic (recessive)" "" "0001078840" "1" "90" "11" "62609151" "62609151" "subst" "0" "00006" "RNU2-2_000045" "g.62609151C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.131G>C" "" "Germline" "" "" "0" "" "" "g.62841679C>G" "" "pathogenic (recessive)" "" "0001078841" "3" "90" "11" "62609180" "62609180" "subst" "0" "00006" "chr11_008642" "g.62609180A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.102T>C" "" "Germline" "yes" "" "0" "" "" "g.62841708A>G" "" "pathogenic (recessive)" "" "0001078842" "3" "90" "11" "62609180" "62609180" "subst" "0" "00006" "chr11_008642" "g.62609180A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.102T>C" "" "Germline" "yes" "" "0" "" "" "g.62841708A>G" "" "pathogenic (recessive)" "" "0001078843" "1" "90" "11" "62609241" "62609241" "subst" "0" "00006" "chr11_008643" "g.62609241A>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.41T>A" "" "Germline" "" "" "0" "" "" "g.62841769A>T" "" "pathogenic (recessive)" "" "0001078844" "1" "90" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.31G>A" "" "Germline" "yes" "" "0" "" "" "g.62841779C>T" "" "pathogenic (recessive)" "" "0001078845" "1" "90" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.31G>A" "" "Germline" "yes" "" "0" "" "" "g.62841779C>T" "" "pathogenic (recessive)" "" "0001078846" "1" "90" "11" "62609232" "62609232" "subst" "0" "00006" "chr11_008644" "g.62609232G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.50C>T" "" "Germline" "" "" "0" "" "" "g.62841760G>A" "" "pathogenic (recessive)" "" "0001078847" "1" "90" "11" "62609176" "62609176" "subst" "0" "00006" "RNU2-2_000060" "g.62609176C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.106G>A" "" "Germline" "" "" "0" "" "" "g.62841704C>T" "" "pathogenic (recessive)" "" "0001078848" "1" "50" "11" "62609098" "62609099" "ins" "0" "00006" "RNU2-2_000009" "g.62609098_62609099insT" "" "{PMID:Jackson 2026:41912933}" "" "[183_184insA;67C>T], 199791.1:n.183_184insA" "" "Germline" "" "" "0" "" "" "g.62841626_62841627insT" "" "VUS" "" "0001078849" "1" "90" "11" "62609230" "62609230" "subst" "0" "00006" "RNU2-2_000085" "g.62609230C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.52G>A" "" "Germline" "" "" "0" "" "" "g.62841758C>T" "" "pathogenic (recessive)" "" "0001078850" "1" "90" "11" "62609100" "62609100" "subst" "0" "00006" "chr11_008645" "g.62609100A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.182T>C" "" "Germline" "" "" "0" "" "" "g.62841628A>G" "" "pathogenic (recessive)" "" "0001078851" "1" "90" "11" "62609169" "62609169" "subst" "0" "00006" "RNU2-2_000057" "g.62609169C>T" "" "{PMID:Jackson 2026:41912933}" "" "[113G>A;57A>G], 199791.1:n.113G>A" "" "Germline" "" "" "0" "" "" "g.62841697C>T" "" "pathogenic (recessive)" "" "0001078852" "1" "90" "11" "62609086" "62609112" "del" "0" "00006" "chr11_008646" "g.62609086_62609112del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.170_*5del" "" "Germline" "" "" "0" "" "" "g.62841614_62841640del" "" "pathogenic (recessive)" "" "0001078853" "3" "90" "11" "62609218" "62609218" "subst" "0" "00006" "RNU2-2_000077" "g.62609218T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.64A>G" "" "Germline" "" "" "0" "" "" "g.62841746T>C" "" "pathogenic (recessive)" "" "0001078854" "1" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001078855" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078856" "1" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001078857" "3" "90" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.28C>G" "" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "pathogenic (recessive)" "" "0001078858" "1" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "carries de novo VUS in GRIN2A" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001078859" "1" "90" "11" "62609108" "62609125" "dup" "0" "00006" "RNU2-2_000020" "g.62609108_62609125dup" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.159_176dup" "" "Germline" "yes" "" "0" "" "" "g.62841636_62841653dup" "" "pathogenic (recessive)" "" "0001078860" "1" "90" "11" "62609108" "62609125" "dup" "0" "00006" "RNU2-2_000020" "g.62609108_62609125dup" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.159_176dup" "" "Germline" "yes" "" "0" "" "" "g.62841636_62841653dup" "" "pathogenic (recessive)" "" "0001078861" "1" "90" "11" "62609125" "62609125" "subst" "0" "00006" "RNU2-2_000025" "g.62609125C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.157G>C" "" "Germline" "" "" "0" "" "" "g.62841653C>G" "" "pathogenic (recessive)" "" "0001078862" "1" "90" "11" "62609270" "62609270" "subst" "0" "00006" "chr11_008647" "g.62609270C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.12G>C" "" "Germline" "" "" "0" "" "" "g.62841798C>G" "" "pathogenic (recessive)" "" "0001078863" "1" "90" "11" "62609261" "62609261" "subst" "0" "00006" "chr11_008648" "g.62609261G>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.21C>A" "" "Germline" "" "" "0" "" "" "g.62841789G>T" "" "pathogenic (recessive)" "" "0001078864" "1" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078865" "3" "90" "11" "62609121" "62609122" "ins" "0" "00006" "chr11_008649" "g.62609121_62609122insATACCAGGA" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.161_162insCCTGGTATT" "" "Germline" "" "" "0" "" "" "g.62841649_62841650insATACCAGGA" "" "pathogenic (recessive)" "" "0001078866" "3" "90" "11" "62609132" "62609132" "subst" "0" "00006" "chr11_008650" "g.62609132A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.150C>T" "" "Germline" "" "" "0" "" "" "g.62841660A>G" "" "pathogenic (!)" "" "0001078867" "3" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001078868" "3" "90" "11" "62609163" "62609174" "del" "0" "00006" "RNU2-2_000052" "g.62609163_62609174del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.116_127del" "" "Germline" "" "" "0" "" "" "g.62841691_62841702del" "" "pathogenic (recessive)" "" "0001078869" "3" "90" "11" "62609225" "62609226" "ins" "0" "00006" "chr11_008651" "g.62609225_62609226insA" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.56_57insT" "" "Germline" "" "" "0" "" "" "g.62841753_62841754insA" "" "pathogenic (recessive)" "" "0001078870" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "yes" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078871" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "yes" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078872" "3" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078873" "3" "90" "11" "62609258" "62609258" "subst" "0" "00006" "RNU2-2_000107" "g.62609258T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.24G>A" "" "Germline" "" "" "0" "" "" "g.62841786T>C" "" "pathogenic (!)" "" "0001078874" "3" "90" "11" "62609258" "62609258" "subst" "0" "00006" "RNU2-2_000107" "g.62609258T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.24G>A" "" "Germline" "" "" "0" "" "" "g.62841786T>C" "" "pathogenic (!)" "" "0001078875" "3" "90" "11" "62609259" "62609259" "subst" "0" "00006" "RNU2-2_000108" "g.62609259T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.23A>G" "" "Germline" "" "" "0" "" "" "g.62841787T>C" "" "pathogenic (recessive)" "" "0001078876" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "yes" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078877" "3" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "yes" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078878" "3" "90" "11" "62609105" "62609105" "subst" "0" "00006" "chr11_008652" "g.62609105T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.177A>G" "" "Germline" "" "" "0" "" "" "g.62841633T>C" "" "pathogenic (recessive)" "" "0001078879" "1" "90" "11" "62609238" "62609238" "subst" "0" "00006" "chr11_008653" "g.62609238A>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.44T>A" "" "Germline" "yes" "" "0" "" "" "g.62841766A>T" "" "pathogenic (recessive)" "" "0001078880" "1" "90" "11" "62609238" "62609238" "subst" "0" "00006" "chr11_008653" "g.62609238A>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.44T>A" "" "Germline" "yes" "" "0" "" "" "g.62841766A>T" "" "pathogenic (recessive)" "" "0001078881" "1" "90" "11" "62609238" "62609238" "subst" "0" "00006" "chr11_008653" "g.62609238A>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.44T>A" "" "Germline" "yes" "" "0" "" "" "g.62841766A>T" "" "pathogenic (recessive)" "" "0001078882" "1" "90" "11" "62609268" "62609268" "subst" "0" "00006" "chr11_008654" "g.62609268G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.14C>G" "" "Germline" "yes" "" "0" "" "" "g.62841796G>C" "" "pathogenic (recessive)" "" "0001078883" "1" "90" "11" "62609268" "62609268" "subst" "0" "00006" "chr11_008654" "g.62609268G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.14C>G" "" "Germline" "yes" "" "0" "" "" "g.62841796G>C" "" "pathogenic (recessive)" "" "0001078884" "1" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000062" "g.62609178A>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>G" "" "Germline" "" "" "0" "" "" "g.62841706A>C" "" "pathogenic (recessive)" "" "0001078885" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078886" "1" "90" "11" "62609257" "62609257" "subst" "0" "00006" "chr11_008655" "g.62609257C>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.25G>T" "" "Germline" "" "" "0" "" "" "g.62841785C>A" "" "pathogenic (recessive)" "" "0001078887" "3" "90" "11" "62609259" "62609259" "subst" "0" "00006" "RNU2-2_000108" "g.62609259T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.23A>G" "" "Germline" "" "" "0" "" "" "g.62841787T>C" "" "pathogenic (recessive)" "" "0001078888" "1" "90" "11" "62609221" "62609221" "subst" "0" "00006" "chr11_008656" "g.62609221G>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>A" "" "Germline" "" "" "0" "" "" "g.62841749G>T" "" "pathogenic (recessive)" "" "0001078889" "3" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "pathogenic (recessive)" "" "0001078890" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "yes" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078891" "1" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "yes" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078892" "1" "50" "11" "62609226" "62609226" "subst" "0" "00006" "chr11_008657" "g.62609226T>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.56A>T" "" "Germline" "" "" "0" "" "" "g.62841754T>A" "" "VUS" "" "0001078893" "1" "50" "11" "62609215" "62609215" "subst" "0" "00006" "RNU2-2_000075" "g.62609215G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.67C>T" "" "Germline" "" "" "0" "" "" "g.62841743G>A" "" "VUS" "" "0001078894" "1" "30" "11" "62609211" "62609211" "subst" "0" "00006" "chr11_008658" "g.62609211G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.71C>T" "" "Germline" "" "" "0" "" "" "g.62841739G>A" "" "likely benign" "" "0001078895" "1" "30" "11" "62609209" "62609209" "subst" "0" "00006" "chr11_008659" "g.62609209G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.73C>T" "" "Germline" "" "" "0" "" "" "g.62841737G>A" "" "likely benign" "" "0001078896" "1" "30" "11" "62609209" "62609209" "subst" "0" "00006" "chr11_008659" "g.62609209G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.73C>T" "" "Germline" "" "" "0" "" "" "g.62841737G>A" "" "likely benign" "" "0001078897" "1" "30" "11" "62609209" "62609209" "subst" "0" "00006" "chr11_008659" "g.62609209G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.73C>T" "" "Germline" "" "" "0" "" "" "g.62841737G>A" "" "likely benign" "" "0001078898" "1" "30" "11" "62609209" "62609209" "subst" "0" "00006" "chr11_008659" "g.62609209G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.73C>T" "" "Germline" "" "" "0" "" "" "g.62841737G>A" "" "likely benign" "" "0001078899" "1" "30" "11" "62609209" "62609209" "subst" "0" "00006" "chr11_008659" "g.62609209G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.73C>T" "" "Germline" "" "" "0" "" "" "g.62841737G>A" "" "likely benign" "" "0001078900" "1" "50" "11" "62609204" "62609204" "subst" "0" "00006" "chr11_008660" "g.62609204G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.78C>T" "" "Germline" "" "" "0" "" "" "g.62841732G>A" "" "VUS" "" "0001078901" "1" "50" "11" "62609202" "62609202" "subst" "0" "00006" "RNU2-2_000071" "g.62609202T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.80A>G" "" "Germline" "" "" "0" "" "" "g.62841730T>C" "" "VUS" "" "0001078902" "1" "50" "11" "62609200" "62609200" "subst" "0" "00006" "chr11_008661" "g.62609200C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.82G>A" "" "Germline" "" "" "0" "" "" "g.62841728C>T" "" "VUS" "" "0001078903" "1" "50" "11" "62609200" "62609200" "subst" "0" "00006" "chr11_008661" "g.62609200C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.82G>A" "" "Germline" "" "" "0" "" "" "g.62841728C>T" "" "VUS" "" "0001078904" "1" "50" "11" "62609200" "62609200" "subst" "0" "00006" "chr11_008661" "g.62609200C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.82G>A" "" "Germline" "" "" "0" "" "" "g.62841728C>T" "" "VUS" "" "0001078905" "1" "50" "11" "62609196" "62609196" "subst" "0" "00006" "chr11_008662" "g.62609196T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.86A>G" "no PXE phenotype" "Germline" "" "" "0" "" "" "g.62841724T>C" "" "VUS" "" "0001078906" "1" "50" "11" "62609194" "62609194" "subst" "0" "00006" "chr11_008663" "g.62609194T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.88A>G" "no PXE phenotype" "Germline" "" "" "0" "" "" "g.62841722T>C" "" "VUS" "" "0001078907" "1" "50" "11" "62609194" "62609194" "subst" "0" "00006" "chr11_008663" "g.62609194T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.88A>G" "" "Germline" "" "" "0" "" "" "g.62841722T>C" "" "VUS" "" "0001078908" "1" "50" "11" "62609194" "62609194" "subst" "0" "00006" "chr11_008663" "g.62609194T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.88A>G" "" "Germline" "" "" "0" "" "" "g.62841722T>C" "" "VUS" "" "0001078909" "1" "50" "11" "62609193" "62609193" "subst" "0" "00006" "chr11_008664" "g.62609193A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.89T>C" "" "Germline" "" "" "0" "" "" "g.62841721A>G" "" "VUS" "" "0001078910" "1" "50" "11" "62609193" "62609193" "subst" "0" "00006" "chr11_008664" "g.62609193A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.89T>C" "" "Germline" "" "" "0" "" "" "g.62841721A>G" "" "VUS" "" "0001078911" "1" "30" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.99A>G" "" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "likely benign" "" "0001078912" "1" "30" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.99A>G" "" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "likely benign" "" "0001078913" "1" "30" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.99A>G" "" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "likely benign" "" "0001078914" "1" "50" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000066" "g.62609182A>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.100T>A" "" "Germline" "" "" "0" "" "" "g.62841710A>T" "" "VUS" "" "0001078915" "1" "50" "11" "62609176" "62609176" "subst" "0" "00006" "chr11_008665" "g.62609176C>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.106G>T" "" "Germline" "" "" "0" "" "" "g.62841704C>A" "" "VUS" "" "0001078916" "1" "50" "11" "62609175" "62609175" "subst" "0" "00006" "chr11_008666" "g.62609175T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.107A>G" "" "Germline" "" "" "0" "" "" "g.62841703T>C" "" "VUS" "" "0001078917" "1" "30" "11" "62609171" "62609171" "subst" "0" "00006" "chr11_008667" "g.62609171T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.111A>G" "" "Germline" "" "" "0" "" "" "g.62841699T>C" "" "likely benign" "" "0001078918" "1" "50" "11" "62609161" "62609161" "subst" "0" "00006" "chr11_008668" "g.62609161T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.121A>G" "no CNSB phenotype" "Germline" "" "" "0" "" "" "g.62841689T>C" "" "VUS" "" "0001078919" "1" "50" "11" "62609156" "62609156" "subst" "0" "00006" "chr11_008669" "g.62609156T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.126A>G" "" "Germline" "" "" "0" "" "" "g.62841684T>C" "" "VUS" "" "0001078920" "1" "30" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "likely benign" "" "0001078921" "1" "30" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "likely benign" "" "0001078922" "1" "50" "11" "62609146" "62609146" "subst" "0" "00006" "chr11_008670" "g.62609146C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.136G>C" "" "Germline" "" "" "0" "" "" "g.62841674C>G" "" "VUS" "" "0001078923" "1" "90" "11" "62609144" "62609144" "subst" "0" "00006" "RNU2-2_000041" "g.62609144G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.138C>T" "" "Germline" "" "" "0" "" "" "g.62841672G>A" "" "pathogenic (recessive)" "" "0001078924" "1" "90" "11" "62609136" "62609136" "subst" "0" "00006" "chr11_008638" "g.62609136G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.146C>T" "" "Germline" "" "" "0" "" "" "g.62841664G>A" "" "pathogenic (recessive)" "" "0001078925" "1" "90" "11" "62609136" "62609136" "subst" "0" "00006" "chr11_008638" "g.62609136G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.146C>T" "" "Germline" "" "" "0" "" "" "g.62841664G>A" "" "pathogenic (recessive)" "" "0001078926" "1" "90" "11" "62609134" "62609134" "subst" "0" "00006" "chr11_008671" "g.62609134G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.148C>T" "" "Germline" "" "" "0" "" "" "g.62841662G>A" "" "pathogenic (recessive)" "" "0001078927" "1" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.154C>T" "" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "" "0001078928" "1" "50" "11" "62609127" "62609127" "subst" "0" "00006" "RNU2-2_000028" "g.62609127G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.155C>T" "" "Germline" "" "" "0" "" "" "g.62841655G>A" "" "VUS" "" "0001078929" "1" "50" "11" "62609127" "62609127" "subst" "0" "00006" "RNU2-2_000028" "g.62609127G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.155C>T" "" "Germline" "" "" "0" "" "" "g.62841655G>A" "" "VUS" "" "0001078930" "1" "30" "11" "62609116" "62609116" "subst" "0" "00006" "chr11_008672" "g.62609116C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.166G>A" "" "Germline" "" "" "0" "" "" "g.62841644C>T" "" "likely benign" "" "0001078931" "1" "50" "11" "62609110" "62609110" "subst" "0" "00006" "chr11_008673" "g.62609110G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.172C>T" "" "Germline" "" "" "0" "" "" "g.62841638G>A" "" "VUS" "" "0001078932" "3" "30" "11" "62609223" "62609223" "subst" "0" "00006" "chr11_008674" "g.62609223T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.59A>G" "" "Germline" "" "" "0" "" "" "g.62841751T>C" "" "likely benign" "" "0001078933" "3" "30" "11" "62609212" "62609212" "subst" "0" "00006" "chr11_008675" "g.62609212G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.70C>T" "" "Germline" "" "" "0" "" "" "g.62841740G>A" "" "likely benign" "" "0001078934" "3" "30" "11" "62609211" "62609211" "subst" "0" "00006" "chr11_008658" "g.62609211G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.71C>T" "" "Germline" "" "" "0" "" "" "g.62841739G>A" "" "likely benign" "" "0001078935" "3" "30" "11" "62609208" "62609208" "subst" "0" "00006" "chr11_008676" "g.62609208A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.74T>C" "" "Germline" "" "" "0" "" "" "g.62841736A>G" "" "likely benign" "" "0001078936" "3" "30" "11" "62609199" "62609199" "subst" "0" "00006" "chr11_008677" "g.62609199T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.83A>G" "" "Germline" "" "" "0" "" "" "g.62841727T>C" "" "likely benign" "" "0001078937" "3" "30" "11" "62609195" "62609195" "subst" "0" "00006" "chr11_008678" "g.62609195A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.87T>C" "" "Germline" "" "" "0" "" "" "g.62841723A>G" "" "likely benign" "" "0001078938" "3" "30" "11" "62609186" "62609186" "subst" "0" "00006" "RNU2-2_000123" "g.62609186A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.96T>C" "" "Germline" "" "" "0" "" "" "g.62841714A>G" "" "likely benign" "" "0001078939" "3" "30" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.99A>G" "" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "likely benign" "" "0001078940" "3" "30" "11" "62609171" "62609171" "subst" "0" "00006" "chr11_008667" "g.62609171T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.111A>G" "" "Germline" "" "" "0" "" "" "g.62841699T>C" "" "likely benign" "" "0001078941" "3" "30" "11" "62609170" "62609170" "subst" "0" "00006" "chr11_008679" "g.62609170C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.112G>A" "" "Germline" "" "" "0" "" "" "g.62841698C>T" "" "likely benign" "" "0001078942" "3" "30" "11" "62609167" "62609167" "subst" "0" "00006" "RNU2-2_000056" "g.62609167C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.115G>A" "" "Germline" "" "" "0" "" "" "g.62841695C>T" "" "likely benign" "" "0001078943" "3" "30" "11" "62609160" "62609160" "dup" "0" "00006" "RNU2-2_000121" "g.62609160dup" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.122_123insT" "" "Germline" "" "" "0" "" "" "g.62841688dup" "" "likely benign" "" "0001078944" "3" "30" "11" "62609157" "62609157" "subst" "0" "00006" "chr11_008680" "g.62609157C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.125G>A" "" "Germline" "" "" "0" "" "" "g.62841685C>T" "" "likely benign" "" "0001078945" "3" "30" "11" "62609148" "62609148" "subst" "0" "00006" "chr11_008681" "g.62609148G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.134C>T" "" "Germline" "" "" "0" "" "" "g.62841676G>A" "" "likely benign" "" "0001078946" "3" "30" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "likely benign" "" "0001078947" "3" "30" "11" "62609141" "62609141" "subst" "0" "00006" "chr11_008682" "g.62609141G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.141C>T" "" "Germline" "" "" "0" "" "" "g.62841669G>A" "" "likely benign" "" "0001078948" "3" "30" "11" "62609133" "62609133" "subst" "0" "00006" "chr11_008683" "g.62609133T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.149A>G" "" "Germline" "" "" "0" "" "" "g.62841661T>C" "" "likely benign" "" "0001078949" "3" "30" "11" "62609116" "62609116" "subst" "0" "00006" "chr11_008672" "g.62609116C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.166G>A" "" "Germline" "" "" "0" "" "" "g.62841644C>T" "" "likely benign" "" "0001078950" "3" "30" "11" "62609112" "62609112" "subst" "0" "00006" "chr11_008684" "g.62609112A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.170T>C" "" "Germline" "" "" "0" "" "" "g.62841640A>G" "" "likely benign" "" "0001078951" "3" "30" "11" "62609106" "62609106" "subst" "0" "00006" "chr11_008685" "g.62609106C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.176G>A" "" "Germline" "" "" "0" "" "" "g.62841634C>T" "" "likely benign" "" "0001078952" "3" "30" "11" "62609105" "62609105" "subst" "0" "00006" "chr11_008686" "g.62609105T>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.177A>C" "" "Germline" "" "" "0" "" "" "g.62841633T>G" "" "likely benign" "" "0001078953" "3" "30" "11" "62609104" "62609104" "subst" "0" "00006" "chr11_008687" "g.62609104T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.178A>G" "" "Germline" "" "" "0" "" "" "g.62841632T>C" "" "likely benign" "" "0001078954" "3" "30" "11" "62609096" "62609096" "subst" "0" "00006" "chr11_008688" "g.62609096G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.186C>T" "" "Germline" "" "" "0" "" "" "g.62841624G>A" "" "likely benign" "" "0001078955" "3" "30" "11" "62609094" "62609094" "subst" "0" "00006" "chr11_008689" "g.62609094G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.188C>T" "" "Germline" "" "" "0" "" "" "g.62841622G>A" "" "likely benign" "" "0001078956" "3" "30" "11" "62609092" "62609092" "subst" "0" "00006" "chr11_008690" "g.62609092G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.190C>T" "" "Germline" "" "" "0" "" "" "g.62841620G>A" "" "likely benign" "" "0001078957" "3" "30" "11" "62609091" "62609091" "subst" "0" "00006" "chr11_008691" "g.62609091G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.191C>T" "" "Germline" "" "" "0" "" "" "g.62841619G>A" "" "likely benign" "" "0001078958" "2" "90" "11" "62609269" "62609269" "subst" "0" "00006" "RNU2-2_000113" "g.62609269G>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.13C>A" "" "Germline" "" "" "0" "" "" "g.62841797G>T" "" "pathogenic (recessive)" "" "0001078959" "2" "90" "11" "62609098" "62609114" "del" "0" "00006" "chr11_008692" "g.62609098_62609114del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.171_187del" "" "Germline" "" "" "0" "" "" "g.62841626_62841642del" "" "pathogenic (recessive)" "" "0001078960" "2" "90" "11" "62609256" "62609256" "subst" "0" "00006" "RNU2-2_000105" "g.62609256T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.26A>C" "" "Germline" "" "" "0" "" "" "g.62841784T>C" "" "pathogenic (recessive)" "" "0001078961" "2" "90" "11" "62609262" "62609262" "subst" "0" "00006" "RNU2-2_000111" "g.62609262C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.20G>A" "" "Germline" "" "" "0" "" "" "g.62841790C>T" "" "pathogenic (recessive)" "" "0001078962" "2" "90" "11" "62609204" "62609204" "subst" "0" "00006" "chr11_008693" "g.62609204G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.78C>G" "" "Germline" "" "" "0" "" "" "g.62841732G>C" "" "pathogenic (recessive)" "" "0001078963" "2" "90" "11" "62609274" "62609274" "subst" "0" "00006" "RNU2-2_000115" "g.62609274G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.8C>T" "" "Germline" "" "" "0" "" "" "g.62841802G>A" "" "pathogenic (recessive)" "" "0001078964" "2" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000083" "g.62609221G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>T" "" "Germline" "" "" "0" "" "" "g.62841749G>A" "" "pathogenic (recessive)" "" "0001078965" "2" "90" "11" "62609279" "62609279" "subst" "0" "00006" "RNU2-2_000120" "g.62609279G>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.3C>T" "" "Germline" "" "" "0" "" "" "g.62841807G>T" "" "pathogenic (recessive)" "" "0001078966" "2" "90" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.28C>G" "" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "pathogenic (recessive)" "" "0001078967" "2" "90" "11" "62609254" "62609254" "subst" "0" "00006" "RNU2-2_000104" "g.62609254G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.28C>G" "" "Germline" "" "" "0" "" "" "g.62841782G>C" "" "pathogenic (recessive)" "" "0001078968" "2" "90" "11" "62609243" "62609243" "subst" "0" "00006" "RNU2-2_000097" "g.62609243A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.39T>C" "" "Germline" "" "" "0" "" "" "g.62841771A>G" "" "pathogenic (recessive)" "" "0001078969" "2" "90" "11" "62609274" "62609274" "subst" "0" "00006" "RNU2-2_000115" "g.62609274G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.8C>T" "" "Germline" "" "" "0" "" "" "g.62841802G>A" "" "pathogenic (recessive)" "" "0001078970" "3" "50" "11" "62609165" "62609165" "subst" "0" "00006" "RNU2-2_000053" "g.62609165A>G" "" "{PMID:Jackson 2026:41912933}" "" "[132C>T;117T>C], 199791.1:n.117T>C" "" "Germline" "" "" "0" "" "" "g.62841693A>G" "" "VUS" "" "0001078971" "3" "50" "11" "62609165" "62609165" "subst" "0" "00006" "RNU2-2_000053" "g.62609165A>G" "" "{PMID:Jackson 2026:41912933}" "" "[132C>T;117T>C], 199791.1:n.117T>C" "" "Germline" "" "" "0" "" "" "g.62841693A>G" "" "VUS" "" "0001078972" "3" "50" "11" "62609165" "62609165" "subst" "0" "00006" "RNU2-2_000053" "g.62609165A>G" "" "{PMID:Jackson 2026:41912933}" "" "[132C>T;117T>C], 199791.1:n.117T>C" "" "Germline" "" "" "0" "" "" "g.62841693A>G" "" "VUS" "" "0001078973" "2" "90" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000119" "g.62609277G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.5C>T" "" "Germline" "" "" "0" "" "" "g.62841805G>A" "" "pathogenic (recessive)" "" "0001078974" "2" "90" "11" "62609277" "62609277" "subst" "0" "00006" "RNU2-2_000119" "g.62609277G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.5C>T" "" "Germline" "" "" "0" "" "" "g.62841805G>A" "" "pathogenic (recessive)" "" "0001078975" "2" "90" "11" "62609239" "62609239" "subst" "0" "00006" "RNU2-2_000093" "g.62609239A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.43T>C" "" "Germline" "" "" "0" "" "" "g.62841767A>G" "" "pathogenic (recessive)" "" "0001078976" "2" "90" "11" "62609169" "62609169" "subst" "0" "00006" "RNU2-2_000057" "g.62609169C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.113G>A" "" "Germline" "" "" "0" "" "" "g.62841697C>T" "" "pathogenic (recessive)" "" "0001078977" "2" "90" "11" "62609200" "62609200" "subst" "0" "00006" "chr11_008661" "g.62609200C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.82G>A" "" "Germline" "" "" "0" "" "" "g.62841728C>T" "" "pathogenic (recessive)" "" "0001078978" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078979" "1" "50" "11" "62609121" "62609121" "dup" "0" "00006" "chr11_008694" "g.62609121dup" "" "{PMID:Jackson 2026:41912933}" "" "[189T>C;162dup], 199791.1:n.162dup" "" "Germline" "" "" "0" "" "" "g.62841649dup" "" "VUS" "" "0001078980" "2" "50" "11" "62609239" "62609239" "subst" "0" "00006" "chr11_008695" "g.62609239A>C" "" "{PMID:Jackson 2026:41912933}" "" "[62T>G;43T>G], 199791.1:n.43T>G" "" "Germline" "" "" "0" "" "" "g.62841767A>C" "" "VUS" "" "0001078981" "2" "50" "11" "62609220" "62609220" "subst" "0" "00006" "RNU2-2_000082" "g.62609220A>C" "" "{PMID:Jackson 2026:41912933}" "" "[62T>G;43T>G], 199791.1:n.62T>G" "" "Germline" "" "" "0" "" "" "g.62841748A>C" "" "VUS" "" "0001078982" "2" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001078983" "2" "90" "11" "62609257" "62609257" "subst" "0" "00006" "RNU2-2_000106" "g.62609257C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.25G>A" "" "Germline" "" "" "0" "" "" "g.62841785C>T" "" "pathogenic (recessive)" "" "0001078984" "2" "90" "11" "62609155" "62609155" "subst" "0" "00006" "RNU2-2_000051" "g.62609155C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.127G>C" "" "Germline" "" "" "0" "" "" "g.62841683C>G" "" "pathogenic (recessive)" "" "0001078985" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078986" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078987" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "chr11_008696" "g.62609237G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>G" "" "Germline" "" "" "0" "" "" "g.62841765G>C" "" "pathogenic (recessive)" "" "0001078988" "2" "90" "11" "62609234" "62609234" "subst" "0" "00006" "RNU2-2_000088" "g.62609234T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.48A>G" "" "Germline" "" "" "0" "" "" "g.62841762T>C" "" "pathogenic (recessive)" "" "0001078989" "1" "50" "11" "62609215" "62609215" "subst" "0" "00006" "RNU2-2_000075" "g.62609215G>A" "" "{PMID:Jackson 2026:41912933}" "" "[183_184insA;67C>T], 199791.1:n.67C>T" "" "Germline" "" "" "0" "" "" "g.62841743G>A" "" "VUS" "" "0001078990" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078991" "2" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.19G>A" "" "Germline" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001078992" "2" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Jackson 2026:41912933}" "" "[36G>A;154C>T], 199791.1:n.154C>T" "" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "" "0001078993" "2" "50" "11" "62609246" "62609246" "subst" "0" "00006" "chr11_008697" "g.62609246C>T" "" "{PMID:Jackson 2026:41912933}" "" "[36G>A;154C>T], 199791.1:n.36G>A" "" "Germline" "" "" "0" "" "" "g.62841774C>T" "" "VUS" "" "0001078994" "1" "50" "11" "62609225" "62609225" "subst" "0" "00006" "chr11_008698" "g.62609225T>C" "" "{PMID:Jackson 2026:41912933}" "" "[113G>A;57A>G], 199791.1:n.57A>G" "" "Germline" "" "" "0" "" "" "g.62841753T>C" "" "VUS" "" "0001078995" "2" "90" "11" "62609241" "62609241" "dup" "0" "00006" "chr11_008699" "g.62609241dup" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.41_42insT" "" "Germline" "" "" "0" "" "" "g.62841769dup" "" "pathogenic (recessive)" "" "0001078996" "2" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "pathogenic (recessive)" "" "0001078997" "2" "90" "11" "62609237" "62609237" "subst" "0" "00006" "RNU2-2_000091" "g.62609237G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.45C>T" "" "Germline" "" "" "0" "" "" "g.62841765G>A" "" "pathogenic (recessive)" "" "0001078998" "2" "90" "11" "62609261" "62609264" "delins" "0" "00006" "RNU2-2_000110" "g.62609261_62609264delinsCCC" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.18_21delinsGGG" "" "Germline" "" "" "0" "" "" "g.62841789_62841792delinsCCC" "" "pathogenic (recessive)" "" "0001078999" "2" "90" "11" "62609125" "62609125" "subst" "0" "00006" "RNU2-2_000025" "g.62609125C>G" "" "{PMID:Jackson 2026:41912933}" "" "[157G>C;56A>T], 199791.1:n.157G>C" "" "Germline" "" "" "0" "" "" "g.62841653C>G" "" "pathogenic (recessive)" "" "0001079000" "2" "50" "11" "62609226" "62609226" "subst" "0" "00006" "chr11_008657" "g.62609226T>A" "" "{PMID:Jackson 2026:41912933}" "" "[157G>C;56A>T], 199791.1:n.56A>T" "" "Germline" "" "" "0" "" "" "g.62841754T>A" "" "VUS" "" "0001079001" "2" "90" "11" "62609182" "62609182" "subst" "0" "00006" "RNU2-2_000065" "g.62609182A>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.100T>G" "carries de novo VUS in GRIN2A" "Germline" "" "" "0" "" "" "g.62841710A>C" "" "pathogenic (recessive)" "" "0001079002" "2" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001079003" "2" "90" "11" "62609178" "62609178" "subst" "0" "00006" "RNU2-2_000061" "g.62609178A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.104T>C" "" "Germline" "" "" "0" "" "" "g.62841706A>G" "" "pathogenic (recessive)" "" "0001079004" "2" "90" "11" "62609251" "62609251" "subst" "0" "00006" "RNU2-2_000102" "g.62609251C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.31G>A" "" "De novo" "" "" "0" "" "" "g.62841779C>T" "" "pathogenic (recessive)" "" "0001079005" "2" "90" "11" "62609111" "62609111" "subst" "0" "00006" "chr11_008700" "g.62609111A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.171T>C" "" "Germline" "" "" "0" "" "" "g.62841639A>G" "" "pathogenic (recessive)" "" "0001079006" "2" "90" "11" "62609102" "62609102" "subst" "0" "00006" "RNU2-2_000015" "g.62609102C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.180G>A" "" "Germline" "" "" "0" "" "" "g.62841630C>T" "" "pathogenic (recessive)" "" "0001079007" "2" "90" "11" "62609261" "62609261" "subst" "0" "00006" "chr11_008648" "g.62609261G>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.21C>A" "" "Germline" "" "" "0" "" "" "g.62841789G>T" "" "pathogenic (recessive)" "" "0001079008" "2" "90" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.107_118del" "" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "pathogenic (recessive)" "" "0001079009" "2" "90" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.107_118del" "" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "pathogenic (recessive)" "" "0001079010" "2" "90" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.107_118del" "" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "pathogenic (recessive)" "" "0001079011" "2" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "pathogenic (recessive)" "" "0001079012" "2" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "pathogenic (recessive)" "" "0001079013" "2" "90" "11" "62609263" "62609263" "subst" "0" "00006" "RNU2-2_000112" "g.62609263C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.19G>A" "" "De novo" "" "" "0" "" "" "g.62841791C>T" "" "pathogenic (recessive)" "" "0001079014" "2" "90" "11" "62609151" "62609151" "subst" "0" "00006" "RNU2-2_000046" "g.62609151C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.131G>A" "" "Germline" "" "" "0" "" "" "g.62841679C>T" "" "pathogenic (recessive)" "" "0001079015" "2" "90" "11" "62609230" "62609230" "subst" "0" "00006" "RNU2-2_000085" "g.62609230C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.52G>A" "" "Germline" "" "" "0" "" "" "g.62841758C>T" "" "pathogenic (recessive)" "" "0001079016" "2" "90" "11" "62609221" "62609221" "subst" "0" "00006" "RNU2-2_000084" "g.62609221G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.61C>G" "" "Germline" "" "" "0" "" "" "g.62841749G>C" "" "pathogenic (recessive)" "" "0001079017" "2" "90" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.107_118del" "" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "pathogenic (recessive)" "" "0001079018" "2" "90" "11" "62609165" "62609176" "del" "0" "00006" "RNU2-2_000054" "g.62609165_62609176del" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.107_118del" "" "Germline" "" "" "0" "" "" "g.62841693_62841704del" "" "pathogenic (recessive)" "" "0001079019" "2" "50" "11" "62609200" "62609200" "subst" "0" "00006" "chr11_008661" "g.62609200C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.82G>A" "" "Germline" "" "" "0" "" "" "g.62841728C>T" "" "VUS" "" "0001079020" "2" "50" "11" "62609194" "62609194" "subst" "0" "00006" "chr11_008663" "g.62609194T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.88A>G" "" "Germline" "" "" "0" "" "" "g.62841722T>C" "" "VUS" "" "0001079021" "2" "30" "11" "62609171" "62609171" "subst" "0" "00006" "chr11_008667" "g.62609171T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.111A>G" "" "Germline" "" "" "0" "" "" "g.62841699T>C" "" "likely benign" "" "0001079022" "2" "50" "11" "62609096" "62609096" "subst" "0" "00006" "chr11_008701" "g.62609096G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.186C>G" "" "Germline" "" "" "0" "" "" "g.62841624G>C" "" "VUS" "" "0001079023" "2" "50" "11" "62609118" "62609118" "subst" "0" "00006" "chr11_008702" "g.62609118G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.164C>T" "" "Germline" "" "" "0" "" "" "g.62841646G>A" "" "VUS" "" "0001079024" "2" "50" "11" "62609098" "62609098" "subst" "0" "00006" "chr11_008703" "g.62609098G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.184C>T" "" "Germline" "" "" "0" "" "" "g.62841626G>A" "" "VUS" "" "0001079025" "2" "50" "11" "62609113" "62609113" "subst" "0" "00006" "chr11_008704" "g.62609113G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.169C>T" "" "Germline" "" "" "0" "" "" "g.62841641G>A" "" "VUS" "" "0001079026" "2" "50" "11" "62609194" "62609194" "subst" "0" "00006" "chr11_008663" "g.62609194T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.88A>G" "" "Germline" "" "" "0" "" "" "g.62841722T>C" "" "VUS" "" "0001079027" "2" "90" "11" "62609102" "62609102" "subst" "0" "00006" "RNU2-2_000015" "g.62609102C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.180G>A" "" "Germline" "" "" "0" "" "" "g.62841630C>T" "" "pathogenic (recessive)" "" "0001079028" "2" "30" "11" "62609170" "62609170" "subst" "0" "00006" "chr11_008679" "g.62609170C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.112G>A" "" "Germline" "" "" "0" "" "" "g.62841698C>T" "" "likely benign" "" "0001079029" "2" "50" "11" "62609114" "62609114" "subst" "0" "00006" "chr11_008705" "g.62609114T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.168A>G" "" "Germline" "" "" "0" "" "" "g.62841642T>C" "" "VUS" "" "0001079030" "2" "50" "11" "62609195" "62609195" "subst" "0" "00006" "chr11_008706" "g.62609195A>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.87T>A" "" "Germline" "" "" "0" "" "" "g.62841723A>T" "" "VUS" "" "0001079031" "2" "30" "11" "62609183" "62609183" "subst" "0" "00006" "RNU2-2_000068" "g.62609183T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.99A>G" "" "Germline" "" "" "0" "" "" "g.62841711T>C" "" "likely benign" "" "0001079032" "2" "90" "11" "62609134" "62609134" "subst" "0" "00006" "chr11_008671" "g.62609134G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.148C>T" "" "Germline" "" "" "0" "" "" "g.62841662G>A" "" "pathogenic (recessive)" "" "0001079033" "2" "30" "11" "62609116" "62609116" "subst" "0" "00006" "chr11_008672" "g.62609116C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.166G>A" "" "Germline" "" "" "0" "" "" "g.62841644C>T" "" "likely benign" "" "0001079034" "2" "50" "11" "62609139" "62609139" "subst" "0" "00006" "chr11_008707" "g.62609139G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.143C>T" "" "Germline" "" "" "0" "" "" "g.62841667G>A" "" "VUS" "" "0001079035" "2" "50" "11" "62609137" "62609137" "subst" "0" "00006" "RNU2-2_000038" "g.62609137T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.145A>G" "" "Germline" "" "" "0" "" "" "g.62841665T>C" "" "VUS" "" "0001079036" "2" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.154C>T" "" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "" "0001079037" "2" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.154C>T" "" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "" "0001079038" "2" "50" "11" "62609113" "62609113" "subst" "0" "00006" "chr11_008704" "g.62609113G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.169C>T" "" "Germline" "" "" "0" "" "" "g.62841641G>A" "" "VUS" "" "0001079039" "2" "50" "11" "62609113" "62609113" "subst" "0" "00006" "chr11_008704" "g.62609113G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.169C>T" "" "Germline" "" "" "0" "" "" "g.62841641G>A" "" "VUS" "" "0001079040" "2" "50" "11" "62609114" "62609114" "subst" "0" "00006" "chr11_008705" "g.62609114T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.168A>G" "" "Germline" "" "" "0" "" "" "g.62841642T>C" "" "VUS" "" "0001079041" "2" "50" "11" "62609145" "62609145" "subst" "0" "00006" "chr11_008708" "g.62609145A>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.137T>C" "" "Germline" "" "" "0" "" "" "g.62841673A>G" "" "VUS" "" "0001079042" "2" "30" "11" "62609170" "62609170" "subst" "0" "00006" "chr11_008679" "g.62609170C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.112G>A" "" "Germline" "" "" "0" "" "" "g.62841698C>T" "" "likely benign" "" "0001079043" "2" "30" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "likely benign" "" "0001079044" "2" "30" "11" "62609105" "62609105" "subst" "0" "00006" "chr11_008686" "g.62609105T>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.177A>C" "" "Germline" "" "" "0" "" "" "g.62841633T>G" "" "likely benign" "" "0001079045" "2" "50" "11" "62609124" "62609124" "subst" "0" "00006" "chr11_008709" "g.62609124C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.158G>A" "" "Germline" "" "" "0" "" "" "g.62841652C>T" "" "VUS" "" "0001079046" "2" "30" "11" "62609147" "62609147" "subst" "0" "00006" "chr11_008636" "g.62609147G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.135C>T" "" "Germline" "" "" "0" "" "" "g.62841675G>A" "" "likely benign" "" "0001079047" "2" "50" "11" "62609097" "62609097" "subst" "0" "00006" "chr11_008710" "g.62609097T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.185A>G" "" "Germline" "" "" "0" "" "" "g.62841625T>C" "" "VUS" "" "0001079048" "2" "90" "11" "62609134" "62609134" "subst" "0" "00006" "chr11_008671" "g.62609134G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.148C>T" "" "Germline" "" "" "0" "" "" "g.62841662G>A" "" "pathogenic (recessive)" "" "0001079049" "2" "50" "11" "62609122" "62609122" "subst" "0" "00006" "chr11_008711" "g.62609122T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.160A>G" "" "Germline" "" "" "0" "" "" "g.62841650T>C" "" "VUS" "" "0001079050" "2" "50" "11" "62609128" "62609128" "subst" "0" "00006" "RNU2-2_000030" "g.62609128G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.154C>T" "" "Germline" "" "" "0" "" "" "g.62841656G>A" "" "VUS" "" "0001079051" "2" "30" "11" "62609116" "62609116" "subst" "0" "00006" "chr11_008672" "g.62609116C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.166G>A" "" "Germline" "" "" "0" "" "" "g.62841644C>T" "" "likely benign" "" "0001079052" "2" "50" "11" "62609107" "62609107" "subst" "0" "00006" "chr11_008712" "g.62609107C>G" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.175G>C" "" "Germline" "" "" "0" "" "" "g.62841635C>G" "" "VUS" "" "0001079053" "2" "50" "11" "62609098" "62609098" "subst" "0" "00006" "chr11_008703" "g.62609098G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.184C>T" "" "Germline" "" "" "0" "" "" "g.62841626G>A" "" "VUS" "" "0001079054" "2" "50" "11" "62609097" "62609097" "subst" "0" "00006" "chr11_008710" "g.62609097T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.185A>G" "" "Germline" "" "" "0" "" "" "g.62841625T>C" "" "VUS" "" "0001079055" "2" "50" "11" "62609124" "62609124" "subst" "0" "00006" "chr11_008709" "g.62609124C>T" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.158G>A" "" "Germline" "" "" "0" "" "" "g.62841652C>T" "" "VUS" "" "0001079056" "2" "50" "11" "62609108" "62609108" "subst" "0" "00006" "chr11_008713" "g.62609108T>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.174A>G" "" "Germline" "" "" "0" "" "" "g.62841636T>C" "" "VUS" "" "0001079057" "2" "50" "11" "62609109" "62609109" "subst" "0" "00006" "chr11_008714" "g.62609109G>A" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.173C>T" "" "Germline" "" "" "0" "" "" "g.62841637G>A" "" "VUS" "" "0001079058" "2" "50" "11" "62609094" "62609094" "subst" "0" "00006" "chr11_008715" "g.62609094G>C" "" "{PMID:Jackson 2026:41912933}" "" "NR_199791.1:n.188C>G" "" "Germline" "" "" "0" "" "" "g.62841622G>C" "" "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 RNU2-2 ## Count = 538 "{{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}}" "0001010212" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010213" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010214" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010215" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010216" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010217" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010218" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010219" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010220" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001010221" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010222" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001010223" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010224" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010225" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001010226" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048656" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048657" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048658" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048659" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048660" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048661" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048662" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048663" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048664" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048665" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048675" "00017968" "90" "0" "0" "0" "0" "n.-46C>A" "r.(?)" "-" "" "0001048676" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048677" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048678" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048679" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048680" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048681" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048682" "00017968" "90" "0" "0" "0" "0" "n.-46C>A" "r.(?)" "-" "" "0001048683" "00017968" "90" "0" "0" "0" "0" "n.-46C>A" "r.(?)" "-" "" "0001048684" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048685" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048686" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048687" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048688" "00017968" "90" "0" "0" "0" "0" "n.-44C>A" "r.(?)" "-" "" "0001048689" "00017968" "90" "0" "0" "0" "0" "n.-44C>A" "r.(?)" "-" "" "0001048690" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048691" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048692" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048693" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048694" "00017968" "90" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048695" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048696" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048697" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048698" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048699" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048700" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048701" "00017968" "90" "0" "0" "0" "0" "n.-14A>C" "r.(?)" "-" "" "0001048703" "00017968" "90" "0" "0" "0" "0" "n.-31_-28delinsGGG" "r.(?)" "-" "" "0001048704" "00017968" "90" "0" "0" "0" "0" "n.-30G>A" "r.(?)" "-" "" "0001048705" "00017968" "90" "15" "0" "15" "0" "n.15G>A" "r.(?)" "-" "" "0001048706" "00017968" "90" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048707" "00017968" "90" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048708" "00017968" "90" "13" "0" "13" "0" "n.13C>T" "r.(?)" "-" "" "0001048709" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048710" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048711" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048712" "00017968" "90" "16" "0" "16" "0" "n.16A>G" "r.(?)" "-" "" "0001048713" "00017968" "90" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048714" "00017968" "90" "60" "0" "71" "0" "n.60_71del" "r.(?)" "-" "" "0001048715" "00017968" "90" "69" "0" "69" "0" "n.69T>C" "r.(?)" "-" "" "0001048716" "00017968" "90" "79" "0" "79" "0" "n.79G>C" "r.(?)" "-" "" "0001048717" "00017968" "90" "118" "0" "118" "0" "n.118G>C" "r.(?)" "-" "" "0001048718" "00017968" "90" "133" "0" "133" "0" "n.133G>C" "r.(?)" "-" "" "0001048719" "00017968" "90" "135" "0" "135" "0" "n.135G>C" "r.(?)" "-" "" "0001048720" "00017968" "90" "135" "0" "135" "0" "n.135G>A" "r.(?)" "-" "" "0001048721" "00017968" "90" "0" "0" "0" "0" "n.-30G>A" "r.(?)" "-" "" "0001048722" "00017968" "90" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048723" "00017968" "90" "60" "0" "71" "0" "n.60_71del" "r.(?)" "-" "" "0001048724" "00017968" "70" "109" "0" "126" "0" "n.109_126dup" "r.(?)" "-" "" "0001048725" "00017968" "70" "0" "0" "0" "0" "n.134_*4del" "r.?" "-" "" "0001048726" "00017968" "70" "0" "0" "0" "0" "n.-41C>T" "r.(?)" "-" "" "0001048727" "00017968" "70" "0" "0" "0" "0" "n.-36C>A" "r.(?)" "-" "" "0001048728" "00017968" "70" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048729" "00017968" "70" "0" "0" "0" "0" "n.-21C>G" "r.(?)" "-" "" "0001048730" "00017968" "70" "0" "0" "0" "0" "n.-10T>C" "r.(?)" "-" "" "0001048731" "00017968" "70" "0" "0" "0" "0" "n.-6T>C" "r.(?)" "-" "" "0001048732" "00017968" "70" "0" "0" "0" "0" "n.-1A>G" "r.(?)" "-" "" "0001048733" "00017968" "90" "13" "0" "13" "0" "n.13C>T" "r.(?)" "-" "" "0001048734" "00017968" "70" "13" "0" "13" "0" "n.13C>G" "r.(?)" "-" "" "0001048735" "00017968" "70" "33" "0" "33" "0" "n.33G>A" "r.(?)" "-" "" "0001048736" "00017968" "70" "81" "0" "81" "0" "n.81T>G" "r.(?)" "-" "" "0001048737" "00017968" "70" "81" "0" "81" "0" "n.81T>C" "r.(?)" "-" "" "0001048738" "00017968" "70" "123" "0" "131" "0" "n.123_131del" "r.(?)" "-" "" "0001048739" "00017968" "90" "0" "0" "0" "0" "n.-4C>T" "r.(?)" "-" "" "0001048740" "00017968" "90" "4" "0" "4" "0" "n.4G>A" "r.(?)" "-" "" "0001048741" "00017968" "90" "0" "0" "0" "0" "n.-30G>A" "r.(?)" "-" "" "0001048742" "00017968" "90" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048743" "00017968" "90" "60" "0" "71" "0" "n.60_71del" "r.(?)" "-" "" "0001048744" "00017968" "90" "135" "0" "135" "0" "n.135G>A" "r.(?)" "-" "" "0001048745" "00017968" "50" "19" "0" "19" "0" "n.19C>T" "r.(?)" "-" "" "0001048746" "00017968" "70" "135" "0" "136" "0" "n.135_136insA" "r.(?)" "-" "" "0001048747" "00017968" "70" "56" "0" "56" "0" "n.56T>G" "r.(?)" "-" "" "0001048748" "00017968" "70" "0" "0" "0" "0" "n.-18G>A" "r.(?)" "-" "" "0001048749" "00017968" "70" "52" "0" "52" "0" "n.52T>G" "r.(?)" "-" "" "0001048750" "00017968" "90" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048751" "00017968" "70" "100" "0" "100" "0" "n.100C>A" "r.(?)" "-" "" "0001048752" "00017968" "70" "56" "0" "56" "0" "n.56T>G" "r.(?)" "-" "" "0001048753" "00017968" "70" "52" "0" "52" "0" "n.52T>G" "r.(?)" "-" "" "0001048754" "00017968" "70" "83" "0" "83" "0" "n.83G>C" "r.(?)" "-" "" "0001048755" "00017968" "70" "110" "0" "110" "0" "n.110G>C" "r.(?)" "-" "" "0001048756" "00017968" "70" "31" "0" "32" "0" "n.31_32insT" "r.(?)" "-" "" "0001048757" "00017968" "70" "127" "0" "127" "0" "n.127G>A" "r.(?)" "-" "" "0001048758" "00017968" "70" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "" "0001048759" "00017968" "70" "90" "0" "90" "0" "n.90C>T" "r.(?)" "-" "" "0001048760" "00017968" "70" "0" "0" "0" "0" "n.138_*31del" "r.?" "-" "" "0001048761" "00017968" "70" "104" "0" "104" "0" "n.104G>T" "r.(?)" "-" "" "0001048762" "00017968" "70" "107" "0" "107" "0" "n.107C>T" "r.(?)" "-" "" "0001048763" "00017968" "70" "87" "0" "87" "0" "n.87C>G" "r.(?)" "-" "" "0001048764" "00017968" "70" "0" "0" "0" "0" "n.122_*9del" "r.?" "-" "" "0001048765" "00017968" "70" "109" "0" "126" "0" "n.109_126dup" "r.(?)" "-" "" "0001048766" "00017968" "90" "56" "0" "56" "0" "n.56T>C" "r.(?)" "-" "" "0001048767" "00017968" "70" "0" "0" "0" "0" "n.134_*4del" "r.?" "-" "" "0001048768" "00017968" "70" "100" "0" "100" "0" "n.100C>A" "r.(?)" "-" "" "0001048800" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048801" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048802" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048803" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048804" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048805" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048806" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048807" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048808" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048809" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048810" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048811" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048812" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048813" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048814" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048815" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048816" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048817" "00017968" "90" "0" "0" "0" "0" "n.-45G>A" "r.(?)" "-" "" "0001048818" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048819" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048820" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048821" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048822" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048823" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048824" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048825" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048826" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048827" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048828" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048829" "00017968" "90" "0" "0" "0" "0" "n.-14A>G" "r.(?)" "-" "" "0001048830" "00017968" "70" "0" "0" "0" "0" "n.-43T>C" "r.(?)" "-" "" "0001048831" "00017968" "50" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048832" "00017968" "50" "0" "0" "0" "0" "n.-41C>T" "r.(?)" "-" "" "0001048833" "00017968" "50" "0" "0" "0" "0" "n.-28C>G" "r.(?)" "-" "" "0001048834" "00017968" "50" "0" "0" "0" "0" "n.-11A>G" "r.(?)" "-" "" "0001048835" "00017968" "90" "0" "0" "0" "0" "n.-9C>T" "r.(?)" "-" "" "0001048836" "00017968" "90" "0" "0" "0" "0" "n.-9C>T" "r.(?)" "-" "" "0001048837" "00017968" "70" "0" "0" "0" "0" "n.-9C>G" "r.(?)" "-" "" "0001048838" "00017968" "50" "14" "0" "14" "0" "n.14T>G" "r.(?)" "-" "" "0001048839" "00017968" "50" "15" "0" "16" "0" "n.15_16insC" "r.(?)" "-" "" "0001048840" "00017968" "50" "61" "0" "61" "0" "n.61A>T" "r.(?)" "-" "" "0001048841" "00017968" "50" "80" "0" "90" "0" "n.80_90del" "r.(?)" "-" "" "0001048842" "00017968" "50" "94" "0" "118" "0" "n.94_118del" "r.(?)" "-" "" "0001048843" "00017968" "50" "102" "0" "102" "0" "n.102T>G" "r.(?)" "-" "" "0001048844" "00017968" "50" "0" "0" "0" "0" "n.-44C>A" "r.(?)" "-" "" "0001048845" "00017968" "50" "0" "0" "0" "0" "n.-44C>T" "r.(?)" "-" "" "0001048846" "00017968" "70" "0" "0" "0" "0" "n.-43T>C" "r.(?)" "-" "" "0001048847" "00017968" "50" "0" "0" "0" "0" "n.-42_-41insA" "r.(?)" "-" "" "0001048848" "00017968" "50" "0" "0" "0" "0" "n.-36C>T" "r.(?)" "-" "" "0001048849" "00017968" "50" "0" "0" "0" "0" "n.-36C>T" "r.(?)" "-" "" "0001048850" "00017968" "50" "0" "0" "0" "0" "n.-32_-14dup" "r.(?)" "-" "" "0001048851" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048852" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048853" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048854" "00017968" "70" "0" "0" "0" "0" "n.-29G>A" "r.(?)" "-" "" "0001048855" "00017968" "50" "0" "0" "0" "0" "n.-25A>G" "r.(?)" "-" "" "0001048856" "00017968" "50" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048857" "00017968" "50" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048858" "00017968" "50" "0" "0" "0" "0" "n.-24G>A" "r.(?)" "-" "" "0001048859" "00017968" "50" "0" "0" "0" "0" "n.-23A>G" "r.(?)" "-" "" "0001048860" "00017968" "70" "0" "0" "0" "0" "n.-21C>G" "r.(?)" "-" "" "0001048861" "00017968" "70" "0" "0" "0" "0" "n.-21C>G" "r.(?)" "-" "" "0001048862" "00017968" "50" "0" "0" "0" "0" "n.-19A>G" "r.(?)" "-" "" "0001048863" "00017968" "50" "0" "0" "0" "0" "n.-18G>A" "r.(?)" 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"-" "" "0001079019" "00017968" "50" "34" "0" "34" "0" "n.34G>A" "r.(?)" "-" "" "0001079020" "00017968" "50" "40" "0" "40" "0" "n.40A>G" "r.(?)" "-" "" "0001079021" "00017968" "30" "63" "0" "63" "0" "n.63A>G" "r.(?)" "-" "" "0001079022" "00017968" "50" "138" "0" "138" "0" "n.138C>G" "r.(?)" "-" "" "0001079023" "00017968" "50" "116" "0" "116" "0" "n.116C>T" "r.(?)" "-" "" "0001079024" "00017968" "50" "136" "0" "136" "0" "n.136C>T" "r.(?)" "-" "" "0001079025" "00017968" "50" "121" "0" "121" "0" "n.121C>T" "r.(?)" "-" "" "0001079026" "00017968" "50" "40" "0" "40" "0" "n.40A>G" "r.(?)" "-" "" "0001079027" "00017968" "90" "132" "0" "132" "0" "n.132G>A" "r.(?)" "-" "" "0001079028" "00017968" "30" "64" "0" "64" "0" "n.64G>A" "r.(?)" "-" "" "0001079029" "00017968" "50" "120" "0" "120" "0" "n.120A>G" "r.(?)" "-" "" "0001079030" "00017968" "50" "39" "0" "39" "0" "n.39T>A" "r.(?)" "-" "" "0001079031" "00017968" "30" "51" "0" "51" "0" "n.51A>G" "r.(?)" "-" "" "0001079032" "00017968" "90" "100" "0" "100" "0" "n.100C>T" "r.(?)" "-" "" "0001079033" "00017968" "30" "118" "0" "118" "0" "n.118G>A" "r.(?)" "-" "" "0001079034" "00017968" "50" "95" "0" "95" "0" "n.95C>T" "r.(?)" "-" "" "0001079035" "00017968" "50" "97" "0" "97" "0" "n.97A>G" "r.(?)" "-" "" "0001079036" "00017968" "50" "106" "0" "106" "0" "n.106C>T" "r.(?)" "-" "" "0001079037" "00017968" "50" "106" "0" "106" "0" "n.106C>T" "r.(?)" "-" "" "0001079038" "00017968" "50" "121" "0" "121" "0" "n.121C>T" "r.(?)" "-" "" "0001079039" "00017968" "50" "121" "0" "121" "0" "n.121C>T" "r.(?)" "-" "" "0001079040" "00017968" "50" "120" "0" "120" "0" "n.120A>G" "r.(?)" "-" "" "0001079041" "00017968" "50" "89" "0" "89" "0" "n.89T>C" "r.(?)" "-" "" "0001079042" "00017968" "30" "64" "0" "64" "0" "n.64G>A" "r.(?)" "-" "" "0001079043" "00017968" "30" "87" "0" "87" "0" "n.87C>T" "r.(?)" "-" "" "0001079044" "00017968" "30" "129" "0" "129" "0" "n.129A>C" "r.(?)" "-" "" "0001079045" "00017968" "50" "110" "0" "110" "0" "n.110G>A" "r.(?)" "-" "" "0001079046" "00017968" "30" "87" "0" "87" "0" "n.87C>T" "r.(?)" "-" "" "0001079047" "00017968" "50" "137" "0" "137" "0" "n.137A>G" "r.(?)" "-" "" "0001079048" "00017968" "90" "100" "0" "100" "0" "n.100C>T" "r.(?)" "-" "" "0001079049" "00017968" "50" "112" "0" "112" "0" "n.112A>G" "r.(?)" "-" "" "0001079050" "00017968" "50" "106" "0" "106" "0" "n.106C>T" "r.(?)" "-" "" "0001079051" "00017968" "30" "118" "0" "118" "0" "n.118G>A" "r.(?)" "-" "" "0001079052" "00017968" "50" "127" "0" "127" "0" "n.127G>C" "r.(?)" "-" "" "0001079053" "00017968" "50" "136" "0" "136" "0" "n.136C>T" "r.(?)" "-" "" "0001079054" "00017968" "50" "137" "0" "137" "0" "n.137A>G" "r.(?)" "-" "" "0001079055" "00017968" "50" "110" "0" "110" "0" "n.110G>A" "r.(?)" "-" "" "0001079056" "00017968" "50" "126" "0" "126" "0" "n.126A>G" "r.(?)" "-" "" "0001079057" "00017968" "50" "125" "0" "125" "0" "n.125C>T" "r.(?)" "-" "" "0001079058" "00017968" "50" "140" "0" "140" "0" "n.140C>G" "r.(?)" "-" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 535 "{{screeningid}}" "{{variantid}}" "0000456527" "0001010212" "0000456528" "0001010213" "0000456529" "0001010214" "0000456530" "0001010215" "0000456531" "0001010216" "0000456532" "0001010217" "0000456533" "0001010218" "0000456534" "0001010219" "0000456535" "0001010220" "0000456536" "0001010221" "0000456537" "0001010222" "0000456538" "0001010223" "0000456539" "0001010224" "0000456540" "0001010225" "0000456541" "0001010226" "0000468726" "0001048656" "0000468727" "0001048657" "0000468728" "0001048658" "0000468729" "0001048659" "0000468730" "0001048660" "0000468731" "0001048661" "0000468732" "0001048662" "0000468733" "0001048663" "0000468734" "0001048664" "0000468735" "0001048665" "0000468745" "0001048675" "0000468746" "0001048676" "0000468747" "0001048677" "0000468748" "0001048678" "0000468749" "0001048679" "0000468750" "0001048680" "0000468751" "0001048681" "0000468752" "0001048682" "0000468753" 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