### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ABCC8) # 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}}" "ABCC8" "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" "11" "p15.1" "unknown" "NG_008867.1" "UD_128143686316" "" "https://www.LOVD.nl/ABCC8" "" "1" "59" "6833" "600509" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/ABCC8_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-02-19 12:41:43" "00000" "2025-07-08 13:22:38" ## 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}}" "00001876" "ABCC8" "ATP-binding cassette, sub-family C (CFTR/MRP), member 8" "001" "NM_000352.3" "" "NP_000343.2" "" "" "" "-126" "4852" "4746" "17498449" "17414432" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 11 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00151" "NIDDM" "diabetes mellitus, type II (NIDDM)" "AD" "125853" "" "" "" "00001" "2013-06-14 15:56:30" "00006" "2021-12-10 21:51:32" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00412" "diabetes" "diabetes" "" "" "" "" "" "00006" "2014-06-15 21:21:04" "" "" "01863" "LIH" "Hypoglycemia of infancy, leucine-sensitive" "AD" "240800" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "01966" "HHF1" "hypoglycemia, hyperinsulinemic, familial, type 1(HHF-1)" "AD;AR" "256450" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02935" "TNDM2" "diabetes mellitus, transient neonatal, type 2 (TNMD-2)" "" "610374" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05415" "USH" "Usher syndrome (USH)" "" "" "" "" "" "00006" "2018-04-02 16:40:44" "" "" "05615" "TNDM" "diabetes mellitus, transient neonatal (TNDM)" "" "" "" "" "" "00006" "2019-06-28 10:16:43" "" "" "05985" "hypertension" "hypertension" "AD" "" "" "" "" "00006" "2021-11-08 09:15:28" "00006" "2021-12-10 21:51:32" "06157" "PNDM3" "Diabetes mellitus, permanent neonatal 3, with or without neurologic features" "" "618857" "" "" "" "00006" "2021-12-10 23:20:41" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 6 "{{geneid}}" "{{diseaseid}}" "ABCC8" "00151" "ABCC8" "01863" "ABCC8" "01966" "ABCC8" "02935" "ABCC8" "05615" "ABCC8" "06157" ## Individuals ## Do not remove or alter this header ## ## Count = 270 "{{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}}" "00019911" "" "" "" "1" "" "00705" "{PMID:Gilissen 2014:24896178}" "" "?" "?" "" "" "0" "" "" "" "" "00165969" "" "" "" "2" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "5-generation family, 2 affected (F, M), proband" "M" "" "" "" "0" "" "" "" "Fam1PatV1" "00165970" "" "" "" "1" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "4-generation family, 4 affected (2f, 2M), proband" "F" "" "" "" "0" "" "" "" "Fam2PatIV2" "00165971" "" "" "00165975" "1" "" "02416" "{PMID:Bitner-Glindzicz 2000:10973248}" "relative" "M" "" "" "" "0" "" "" "" "Fam2PatIV4" "00244594" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244595" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244596" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244597" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244598" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244599" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244600" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244601" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244602" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244603" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244604" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244605" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244606" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244607" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244608" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244609" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244610" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244611" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244612" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244613" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244614" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244615" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244616" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244617" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244618" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244619" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244620" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244621" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244622" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244623" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244624" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244625" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244626" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244627" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244628" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244629" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244630" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244631" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244632" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244633" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244634" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244635" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244636" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244637" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244638" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244639" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244640" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244641" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244642" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244643" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244644" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244645" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244646" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244647" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244648" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244649" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244650" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244651" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244652" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244653" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244654" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244655" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244656" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244657" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244658" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244659" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244660" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244661" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244662" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244663" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244664" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244665" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244666" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244667" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244668" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244669" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244670" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244671" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244672" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244673" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244674" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244675" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244676" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244677" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244678" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244679" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244680" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244681" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244682" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244683" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244684" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244685" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244686" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244687" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244688" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244689" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244690" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244691" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244692" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244693" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244694" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244695" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244696" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244697" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244698" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244699" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244700" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244701" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244702" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244703" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244704" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244705" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244706" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244707" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244708" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244709" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244710" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244711" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244712" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244713" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244714" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244715" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244716" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244717" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244718" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244719" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244720" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244721" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244722" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244723" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244724" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244725" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244726" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244727" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244728" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244729" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244730" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244731" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244732" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244733" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244734" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244735" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244736" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244737" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244738" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244739" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244740" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244741" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244742" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244743" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244744" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244745" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244746" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244747" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244748" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244749" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244750" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244751" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244752" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244753" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244754" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244755" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244756" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244757" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244758" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244759" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244760" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244761" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244762" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244763" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244764" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244765" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244766" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244767" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244768" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244769" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244770" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244771" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244772" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244773" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244774" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244775" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244776" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244777" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244778" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244779" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244780" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244781" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244782" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244783" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244784" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244785" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244786" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244787" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244788" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244789" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244790" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244791" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244792" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244793" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244794" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244795" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244796" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244797" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244798" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244799" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244800" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244801" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244802" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244803" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244804" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244805" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244806" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244807" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244808" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244809" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244810" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244811" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244812" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244813" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244814" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244815" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244816" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244817" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244818" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244819" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244820" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244821" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244822" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244823" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244824" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244825" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244826" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244827" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244828" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244829" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244830" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00244831" "" "" "" "1" "" "01905" "De Franco et al 2019, submitted" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "?" "00290310" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290311" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290312" "" "" "" "56" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290314" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290315" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290316" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295651" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" "" "00305888" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "1" "00305902" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "17" "00305903" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "18" "00306183" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "81" "00306196" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "94" "00320435" "" "" "" "1" "" "03946" "" "" "F" "no" "Belgium" "" "" "" "" "" "P2 in Saint-Martin et al" "00320436" "" "" "" "1" "" "03946" "" "" "M" "no" "Belgium" "" "" "" "" "" "P3 in Saint-Martin et al" "00320437" "" "" "" "1" "" "03946" "" "" "M" "?" "India" "" "" "" "" "" "P4 in Saint-Martin et al" "00320441" "" "" "" "1" "" "03946" "" "" "F" "" "France" "" "" "" "" "" "P5 in Saint-Martin et al" "00320444" "" "" "" "1" "" "03946" "" "" "M" "yes" "Lebanon" "" "" "" "" "" "P6 in Saint-Martin et al" "00320447" "" "" "" "1" "" "03946" "" "" "M" "no" "" "" "" "" "" "Mother from Lebanon, Father from Greece" "P7 in Saint-Martin et al" "00320449" "" "" "" "1" "" "03946" "" "" "F" "?" "" "" "" "" "" "" "P8 in Saint-Martin et al" "00320450" "" "" "" "1" "" "03946" "" "" "F" "?" "France" "" "" "" "" "" "P9 in Saint-Martin et al" "00320452" "" "" "" "1" "" "03946" "" "" "M" "?" "France" "" "" "" "" "" "P11 in Saint-Martin et al" "00320455" "" "" "" "1" "" "03946" "" "" "M" "?" "France" "" "" "" "" "" "P18 in Saint-Martin et al" "00320458" "" "" "" "1" "" "03946" "" "" "F" "?" "Algeria" "" "" "" "" "" "P20 in Saint-Martin et al" "00363226" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Pat96" "00363227" "" "" "" "1" "" "00000" "{PMID:Neuhaus 2017:28944237}" "" "" "" "Saudi Arabia" "" "0" "" "" "" "Pat97" "00374640" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3974" "00390049" "" "" "" "1" "" "00006" "{PMID: Gelinas 2020:33187088}" "" "M" "" "" "" "0" "" "" "" "P4" "00451461" "" "" "" "1" "" "04221" "{PMID:Vela-Amieva 2024:39519275}" "Co-occurrence of two different monogenic diseases (a pathogenic variant in the RET gene was identified as a secondary finding)" "M" "no" "Mexico" "" "" "" "" "Mexican" "3bINP-045" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 270 "{{individualid}}" "{{diseaseid}}" "00019911" "00139" "00165969" "05415" "00165970" "05415" "00165971" "05415" "00244594" "00412" "00244595" "00412" "00244596" "00412" "00244597" "00412" "00244598" "00412" "00244599" "00412" "00244600" "00412" "00244601" "00412" "00244602" "00412" "00244603" "00412" "00244604" "00412" "00244605" "00412" "00244606" "00412" "00244607" "00412" "00244608" "00412" "00244609" "00412" "00244610" "00412" "00244611" "00412" "00244612" "00412" "00244613" "00412" "00244614" "00412" "00244615" "00412" "00244616" "00412" "00244617" "00412" "00244618" "00412" "00244619" "00412" "00244620" "00412" "00244621" "00412" "00244622" "00412" "00244623" "00412" "00244624" "00412" "00244625" "00412" "00244626" "00412" "00244627" "00412" "00244628" "00412" "00244629" "00412" "00244630" "00412" "00244631" "00412" "00244632" "00412" "00244633" "00412" "00244634" "00412" "00244635" "00412" "00244636" "00412" "00244637" "00412" "00244638" "00412" "00244639" "00412" "00244640" "00412" "00244641" "00412" "00244642" "00412" "00244643" "00412" "00244644" "00412" "00244645" "00412" "00244646" "00412" "00244647" "00412" "00244648" "00412" "00244649" "00412" "00244650" "00412" "00244651" "00412" "00244652" "00412" "00244653" "00412" "00244654" "00412" "00244655" "00412" "00244656" "00412" "00244657" "00412" "00244658" "00412" "00244659" "00412" "00244660" "00412" "00244661" "00412" "00244662" "00412" "00244663" "00412" "00244664" "00412" "00244665" "00412" "00244666" "00412" "00244667" "00412" "00244668" "00412" "00244669" "00412" "00244670" "00412" "00244671" "00412" "00244672" "00412" "00244673" "00412" "00244674" "00412" "00244675" "00412" "00244676" "00412" "00244677" "00412" "00244678" "00412" "00244679" "00412" "00244680" "00412" "00244681" "00412" "00244682" "00412" "00244683" "00412" "00244684" "00412" "00244685" "00412" "00244686" "00412" "00244687" "00412" "00244688" "00412" "00244689" "00412" "00244690" "00412" "00244691" "00412" "00244692" "00412" "00244693" "00412" "00244694" "00412" "00244695" "00412" "00244696" "00412" "00244697" "00412" "00244698" "00412" "00244699" "00412" "00244700" "00412" "00244701" "00412" "00244702" "00412" "00244703" "00412" "00244704" "00412" "00244705" "00412" "00244706" "00412" "00244707" "00412" "00244708" "00412" "00244709" "00412" "00244710" "00412" "00244711" "00412" "00244712" "00412" "00244713" "00412" "00244714" "00412" "00244715" "00412" "00244716" "00412" "00244717" "00412" "00244718" "00412" "00244719" "00412" "00244720" "00412" "00244721" "00412" "00244722" "00412" "00244723" "00412" "00244724" "00412" "00244725" "00412" "00244726" "00412" "00244727" "00412" "00244728" "00412" "00244729" "00412" "00244730" "00412" "00244731" "00412" "00244732" "00412" "00244733" "00412" "00244734" "00412" "00244735" "00412" "00244736" "00412" "00244737" "00412" "00244738" "00412" "00244739" "00412" "00244740" "00412" "00244741" "00412" "00244742" "00412" "00244743" "00412" "00244744" "00412" "00244745" "00412" "00244746" "00412" "00244747" "00412" "00244748" "00412" "00244749" "00412" "00244750" "00412" "00244751" "00412" "00244752" "00412" "00244753" "00412" "00244754" 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"01966" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00139, 00151, 00198, 00412, 01863, 01966, 02935, 05415, 05615, 05985, 06157 ## Count = 264 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000020356" "00139" "00019911" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130833" "05415" "00165969" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH), contiguous gene syndrome" "" "0000130834" "05415" "00165970" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH), contiguous gene syndrome" "" "0000130835" "05415" "00165971" "02416" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "Usher syndrome (USH), contiguous gene syndrome" "" "0000184560" "00412" "00244594" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184561" "00412" "00244595" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184562" "00412" "00244596" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184563" "00412" "00244597" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184564" "00412" "00244598" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184565" "00412" "00244599" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184566" "00412" "00244600" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184567" "00412" "00244601" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184568" "00412" "00244602" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184569" "00412" "00244603" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184570" "00412" "00244604" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184571" "00412" "00244605" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184572" "00412" "00244606" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184573" "00412" "00244607" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184574" "00412" "00244608" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184575" "00412" "00244609" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184576" "00412" "00244610" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184577" "00412" "00244611" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184578" "00412" "00244612" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184579" "00412" "00244613" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184580" "00412" "00244614" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184581" "00412" "00244615" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184582" "00412" "00244616" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184583" "00412" "00244617" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184584" "00412" "00244618" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184585" "00412" "00244619" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184586" "00412" "00244620" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184587" "00412" "00244621" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184588" "00412" "00244622" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184589" "00412" "00244623" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184590" "00412" "00244624" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184591" "00412" "00244625" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184592" "00412" "00244626" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184593" "00412" "00244627" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184594" "00412" "00244628" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184595" "00412" "00244629" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184596" "00412" "00244630" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184597" "00412" "00244631" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184598" "00412" "00244632" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184599" "00412" "00244633" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184600" "00412" "00244634" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184601" "00412" "00244635" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184602" "00412" "00244636" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184603" "00412" "00244637" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184604" "00412" "00244638" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184605" "00412" "00244639" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184606" "00412" "00244640" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184607" "00412" "00244641" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184608" "00412" "00244642" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes hyperinsulinism" "" "0000184609" "00412" "00244643" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184610" "00412" "00244644" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184611" "00412" "00244645" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184612" "00412" "00244646" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184613" "00412" "00244647" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184614" "00412" "00244648" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes / hyperinsulinism" "" "0000184615" "00412" "00244649" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184616" "00412" "00244650" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184617" "00412" "00244651" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184618" "00412" "00244652" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184619" "00412" "00244653" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184620" "00412" "00244654" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184621" "00412" "00244655" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184622" "00412" "00244656" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184623" "00412" "00244657" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184624" "00412" "00244658" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184625" "00412" "00244659" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184626" "00412" "00244660" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184627" "00412" "00244661" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184628" "00412" "00244662" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184629" "00412" "00244663" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184630" "00412" "00244664" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184631" "00412" "00244665" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184632" "00412" "00244666" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184633" "00412" "00244667" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184634" "00412" "00244668" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "diabetes" "" "0000184635" "00412" "00244669" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184636" "00412" "00244670" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184637" "00412" "00244671" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184638" "00412" "00244672" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184639" "00412" "00244673" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184640" "00412" "00244674" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184641" "00412" "00244675" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184642" "00412" "00244676" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184643" "00412" "00244677" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184644" "00412" "00244678" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184645" "00412" "00244679" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184646" "00412" "00244680" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184647" "00412" "00244681" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184648" "00412" "00244682" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184649" "00412" "00244683" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184650" "00412" "00244684" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184651" "00412" "00244685" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184652" "00412" "00244686" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184653" "00412" "00244687" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184654" "00412" "00244688" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184655" "00412" "00244689" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184656" "00412" "00244690" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184657" "00412" "00244691" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184658" "00412" "00244692" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184659" "00412" "00244693" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184660" "00412" "00244694" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184661" "00412" "00244695" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184662" "00412" "00244696" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184663" "00412" "00244697" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184664" "00412" "00244698" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184665" "00412" "00244699" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184666" "00412" "00244700" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184667" "00412" "00244701" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184668" "00412" "00244702" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184669" "00412" "00244703" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184670" "00412" "00244704" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184671" "00412" "00244705" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184672" "00412" "00244706" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184673" "00412" "00244707" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184674" "00412" "00244708" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184675" "00412" "00244709" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184676" "00412" "00244710" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184677" "00412" "00244711" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184678" "00412" "00244712" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184679" "00412" "00244713" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184680" "00412" "00244714" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184681" "00412" "00244715" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184682" "00412" "00244716" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184683" "00412" "00244717" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184684" "00412" "00244718" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184685" "00412" "00244719" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184686" "00412" "00244720" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184687" "00412" "00244721" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184688" "00412" "00244722" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184689" "00412" "00244723" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184690" "00412" "00244724" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184691" "00412" "00244725" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184692" "00412" "00244726" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184693" "00412" "00244727" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184694" "00412" "00244728" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184695" "00412" "00244729" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184696" "00412" "00244730" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184697" "00412" "00244731" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184698" "00412" "00244732" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184699" "00412" "00244733" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184700" "00412" "00244734" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184701" "00412" "00244735" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184702" "00412" "00244736" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184703" "00412" "00244737" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184704" "00412" "00244738" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184705" "00412" "00244739" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184706" "00412" "00244740" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184707" "00412" "00244741" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184708" "00412" "00244742" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184709" "00412" "00244743" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184710" "00412" "00244744" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184711" "00412" "00244745" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184712" "00412" "00244746" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184713" "00412" "00244747" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184714" "00412" "00244748" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184715" "00412" "00244749" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184716" "00412" "00244750" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184717" "00412" "00244751" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184718" "00412" "00244752" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184719" "00412" "00244753" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184720" "00412" "00244754" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184721" "00412" "00244755" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184722" "00412" "00244756" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184723" "00412" "00244757" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184724" "00412" "00244758" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184725" "00412" "00244759" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184726" "00412" "00244760" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184727" "00412" "00244761" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184728" "00412" "00244762" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184729" "00412" "00244763" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184730" "00412" "00244764" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184731" "00412" "00244765" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184732" "00412" "00244766" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184733" "00412" "00244767" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184734" "00412" "00244768" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184735" "00412" "00244769" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184736" "00412" "00244770" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184737" "00412" "00244771" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184738" "00412" "00244772" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184739" "00412" "00244773" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184740" "00412" "00244774" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184741" "00412" "00244775" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184742" "00412" "00244776" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184743" "00412" "00244777" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184744" "00412" "00244778" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184745" "00412" "00244779" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184746" "00412" "00244780" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184747" "00412" "00244781" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184748" "00412" "00244782" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184749" "00412" "00244783" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184750" "00412" "00244784" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184751" "00412" "00244785" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184752" "00412" "00244786" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184753" "00412" "00244787" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184754" "00412" "00244788" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184755" "00412" "00244789" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "adult-onset diabetes" "" "0000184756" "00412" "00244790" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184757" "00412" "00244791" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184758" "00412" "00244792" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184759" "00412" "00244793" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184760" "00412" "00244794" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184761" "00412" "00244795" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184762" "00412" "00244796" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184763" "00412" "00244797" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184764" "00412" "00244798" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184765" "00412" "00244799" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184766" "00412" "00244800" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184767" "00412" "00244801" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184768" "00412" "00244802" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184769" "00412" "00244803" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184770" "00412" "00244804" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184771" "00412" "00244805" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184772" "00412" "00244806" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184773" "00412" "00244807" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184774" "00412" "00244808" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184775" "00412" "00244809" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "neonatal diabetes mellitus" "" "0000184776" "00412" "00244810" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184777" "00412" "00244811" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184778" "00412" "00244812" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184779" "00412" "00244813" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184780" "00412" "00244814" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184781" "00412" "00244815" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184782" "00412" "00244816" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184783" "00412" "00244817" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184784" "00412" "00244818" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184785" "00412" "00244819" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184786" "00412" "00244820" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "adult-onset diabetes" "" "0000184787" "00412" "00244821" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism progressed to diabetes" "" "0000184788" "00412" "00244822" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184789" "00412" "00244823" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184790" "00412" "00244824" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184791" "00412" "00244825" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184792" "00412" "00244826" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184793" "00412" "00244827" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "transient neonatal diabetes mellitus" "" "0000184794" "00412" "00244828" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "permanent neonatal diabetes mellitus" "" "0000184795" "00412" "00244829" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184796" "00412" "00244830" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000184797" "00412" "00244831" "01905" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "hyperinsulinism" "" "0000223215" "00198" "00295651" "01164" "Unknown" "" "Maturity-onset diabetes of the young (HP:0004904)" "" "" "" "" "" "" "" "" "" "" "" "0000231733" "01966" "00305888" "03695" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231749" "01966" "00305902" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231750" "01966" "00305903" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232029" "01966" "00306183" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232044" "01966" "00306196" "03695" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000242411" "01966" "00320435" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia - unresponsive to diazoxide - focal form" "" "" "" "" "" "" "" "" "" "" "" "0000242412" "01966" "00320436" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form" "" "" "" "" "" "" "" "" "" "" "" "0000242413" "01966" "00320437" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, focal form" "" "" "" "" "" "" "" "" "" "" "" "0000242417" "01966" "00320441" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide" "" "" "" "" "" "" "" "" "" "" "" "0000242420" "01966" "00320444" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form" "" "" "" "" "" "" "" "" "" "" "" "0000242424" "01966" "00320447" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide" "" "" "" "" "" "" "" "" "" "" "" "0000242426" "01966" "00320449" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form" "" "" "" "" "" "" "" "" "" "" "" "0000242427" "01966" "00320450" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, focal form" "" "" "" "" "" "" "" "" "" "" "" "0000242429" "01966" "00320452" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form" "" "" "" "" "" "" "" "" "" "" "" "0000242432" "01966" "00320455" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, diffuse form" "" "" "" "" "" "" "" "" "" "" "" "0000242435" "01966" "00320458" "03946" "Isolated (sporadic)" "" "Hyperinsulinemic hypoglycemia (HP:0000825) unresponsive to diazoxide, focal form" "" "" "" "" "" "" "" "" "" "" "" "0000258591" "05415" "00363226" "00000" "Familial, autosomal recessive" "9y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000258592" "05415" "00363227" "00000" "Familial, autosomal recessive" "2y" "" "" "" "" "" "" "" "" "" "" "Usher syndrome, type I" "" "0000269850" "00198" "00374640" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "poor feeding, reduced activity" "" "0000283589" "05985" "00390049" "00006" "Unknown" "" "pulmonary arterial hypertension" "00y19m" "" "" "" "" "" "" "" "" "hypertension" "" "0000340198" "01966" "00451461" "04221" "Familial, autosomal dominant" "" "Seizure, chronic constipation, \r\nAttention deficit hyperactivity disorder. Secondary finding: Multiple endocrine neoplasia, Type IIA (OMIM: 171400)" "" "21y" "" "" "" "" "" "" "Hyperinsulinemic hypoglycemia, familial, 1" "Hyperinsulinemic hypoglycemia" "" ## Screenings ## Do not remove or alter this header ## ## Count = 270 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000019903" "00019911" "1" "00705" "00705" "2014-09-17 10:32:05" "" "" "SEQ" "DNA" "" "" "0000166848" "00165969" "1" "02416" "02416" "2010-03-04 17:55:24" "00110" "2012-04-10 08:46:11" "SEQ" "DNA" "" "" "0000166849" "00165970" "1" "02416" "02416" "2010-03-04 17:55:24" "00110" "2012-04-10 08:46:11" "SEQ" "DNA" "" "" "0000166850" "00165971" "1" "02416" "02416" "2010-03-04 17:55:24" "00110" "2012-04-10 08:46:11" "SEQ" "DNA" "" "" "0000245706" "00244594" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245707" "00244595" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245708" "00244596" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245709" "00244597" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245710" "00244598" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245711" "00244599" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245712" "00244600" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245713" "00244601" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245714" "00244602" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245715" "00244603" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245716" "00244604" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245717" "00244605" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245718" "00244606" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245719" "00244607" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245720" "00244608" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245721" "00244609" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245722" "00244610" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245723" "00244611" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245724" "00244612" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245725" "00244613" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245726" "00244614" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245727" "00244615" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245728" "00244616" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245729" "00244617" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245730" "00244618" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245731" "00244619" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245732" "00244620" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245733" "00244621" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245734" "00244622" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245735" "00244623" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245736" "00244624" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245737" "00244625" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245738" "00244626" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245739" "00244627" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245740" "00244628" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245741" "00244629" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245742" "00244630" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245743" "00244631" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245744" "00244632" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245745" "00244633" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245746" "00244634" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245747" "00244635" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245748" "00244636" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245749" "00244637" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245750" "00244638" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" 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"0000245894" "00244782" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245895" "00244783" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245896" "00244784" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245897" "00244785" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245898" "00244786" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245899" "00244787" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245900" "00244788" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245901" "00244789" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245902" "00244790" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245903" "00244791" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245904" "00244792" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245905" "00244793" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245906" "00244794" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245907" "00244795" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245908" "00244796" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245909" "00244797" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245910" "00244798" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245911" "00244799" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245912" "00244800" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245913" "00244801" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245914" "00244802" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245915" "00244803" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245916" "00244804" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245917" "00244805" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245918" "00244806" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245919" "00244807" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245920" "00244808" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245921" "00244809" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245922" "00244810" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245923" "00244811" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245924" "00244812" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245925" "00244813" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245926" "00244814" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245927" "00244815" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245928" "00244816" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245929" "00244817" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245930" "00244818" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245931" "00244819" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245932" "00244820" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245933" "00244821" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245934" "00244822" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245935" "00244823" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245936" "00244824" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245937" "00244825" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245938" "00244826" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245939" "00244827" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245940" "00244828" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245941" "00244829" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245942" "00244830" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000245943" "00244831" "1" "01905" "00006" "2019-06-29 17:53:27" "" "" "SEQ" "DNA" "" "" "0000291478" "00290310" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291479" "00290311" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291480" "00290312" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291482" "00290314" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291483" "00290315" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291484" "00290316" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296823" "00295651" "1" "01164" "01164" "2020-03-22 12:43:27" "" "" "SEQ-NG-S" "DNA" "" "" "0000307018" "00305888" "1" "03695" "03695" "2020-07-05 09:28:51" "" "" "SEQ-NG" "DNA" "" "" "0000307033" "00305902" "1" "03695" "03695" "2020-07-05 15:25:58" "" "" "SEQ-NG" "DNA" "" "" "0000307034" "00305903" "1" "03695" "03695" "2020-07-05 15:30:44" "" "" "SEQ-NG" "DNA" "" "" "0000307316" "00306183" "1" "03695" "03695" "2020-07-11 02:39:09" "" "" "SEQ-NG" "DNA" "" "" "0000307330" "00306196" "1" "03695" "03695" "2020-07-11 07:33:27" "" "" "SEQ-NG" "DNA" "" "" "0000321622" "00320435" "1" "03946" "03946" "2020-11-30 11:14:26" "" "" "SEQ" "DNA" "Blood and pancreas" "" "0000321623" "00320436" "1" "03946" "03946" "2020-11-30 11:51:57" "" "" "SEQ" "DNA" "blood" "" "0000321624" "00320437" "1" "03946" "03946" "2020-11-30 12:10:36" "" "" "SEQ" "DNA" "blood" "" "0000321629" "00320441" "1" "03946" "03946" "2020-11-30 12:28:24" "" "" "SEQ" "DNA" "blood" "" "0000321632" "00320444" "1" "03946" "03946" "2020-11-30 12:55:29" "" "" "SEQ-NG-R" "DNA" "blood" "" "0000321636" "00320447" "1" "03946" "03946" "2020-11-30 14:22:24" "" "" "SEQ" "DNA" "blood" "" "0000321638" "00320449" "1" "03946" "03946" "2020-11-30 14:31:00" "" "" "SEQ" "DNA" "blood" "" "0000321639" "00320450" "1" "03946" "03946" "2020-11-30 14:42:14" "" "" "SEQ" "DNA" "blood" "" "0000321641" "00320452" "1" "03946" "03946" "2020-11-30 14:50:58" "" "" "SEQ" "DNA" "blood" "" "0000321644" "00320455" "1" "03946" "03946" "2020-11-30 15:11:13" "" "" "SEQ" "DNA" "blood" "" "0000321647" "00320458" "1" "03946" "03946" "2020-11-30 15:21:00" "" "" "SEQ" "DNA" "" "" "0000364454" "00363226" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "SEQ-NG" "DNA" "" "gene panel" "0000364455" "00363227" "1" "00000" "00006" "2021-04-26 15:58:48" "" "" "arrayCGH" "DNA" "" "" "0000375834" "00374640" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000391290" "00390049" "1" "00006" "00006" "2021-11-08 13:37:36" "" "" "SEQ-NG" "DNA" "" "WES" "0000453062" "00451461" "1" "04221" "04221" "2024-06-06 23:12:59" "" "" "SEQ-NG-I" "DNA" "gDNA from peripheral blood" "whole exome sequencing" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 275 "{{screeningid}}" "{{geneid}}" "0000019903" "ABCC8" "0000245706" "ABCC8" "0000245707" "ABCC8" "0000245708" "ABCC8" "0000245709" "ABCC8" "0000245710" "ABCC8" "0000245711" "ABCC8" "0000245712" "ABCC8" "0000245713" "ABCC8" "0000245714" "ABCC8" "0000245715" "ABCC8" "0000245716" "ABCC8" "0000245717" "ABCC8" "0000245718" "ABCC8" "0000245719" "ABCC8" "0000245720" "ABCC8" "0000245721" "ABCC8" "0000245722" "ABCC8" "0000245723" "ABCC8" "0000245724" "ABCC8" "0000245725" "ABCC8" "0000245726" "ABCC8" "0000245727" "ABCC8" "0000245728" "ABCC8" "0000245729" "ABCC8" "0000245730" "ABCC8" "0000245731" "ABCC8" "0000245732" "ABCC8" "0000245733" "ABCC8" "0000245734" "ABCC8" "0000245735" "ABCC8" "0000245736" "ABCC8" "0000245737" "ABCC8" "0000245738" "ABCC8" "0000245739" "ABCC8" "0000245740" "ABCC8" "0000245741" "ABCC8" "0000245742" "ABCC8" "0000245743" "ABCC8" "0000245744" "ABCC8" "0000245745" "ABCC8" "0000245746" "ABCC8" "0000245747" "ABCC8" "0000245748" "ABCC8" "0000245749" "ABCC8" "0000245750" "ABCC8" "0000245751" "ABCC8" "0000245752" "ABCC8" "0000245753" "ABCC8" "0000245754" "ABCC8" "0000245755" "ABCC8" "0000245756" "ABCC8" "0000245757" "ABCC8" "0000245758" "ABCC8" "0000245759" "ABCC8" "0000245760" "ABCC8" "0000245761" "ABCC8" "0000245762" "ABCC8" "0000245763" "ABCC8" "0000245764" "ABCC8" "0000245765" "ABCC8" "0000245766" "ABCC8" "0000245767" "ABCC8" "0000245768" "ABCC8" "0000245769" "ABCC8" "0000245770" "ABCC8" "0000245771" "ABCC8" "0000245772" "ABCC8" "0000245773" "ABCC8" "0000245774" "ABCC8" "0000245775" "ABCC8" "0000245776" "ABCC8" "0000245777" "ABCC8" "0000245778" "ABCC8" "0000245779" "ABCC8" "0000245780" "ABCC8" "0000245781" "ABCC8" "0000245782" "ABCC8" "0000245783" "ABCC8" "0000245784" "ABCC8" "0000245785" "ABCC8" "0000245786" "ABCC8" "0000245787" "ABCC8" "0000245788" "ABCC8" "0000245789" "ABCC8" "0000245790" "ABCC8" "0000245791" "ABCC8" "0000245792" "ABCC8" "0000245793" "ABCC8" "0000245794" "ABCC8" "0000245795" "ABCC8" "0000245796" "ABCC8" "0000245797" "ABCC8" "0000245798" "ABCC8" "0000245799" "ABCC8" "0000245800" "ABCC8" "0000245801" "ABCC8" "0000245802" "ABCC8" "0000245803" "ABCC8" "0000245804" "ABCC8" "0000245805" "ABCC8" "0000245806" "ABCC8" "0000245807" "ABCC8" "0000245808" "ABCC8" "0000245809" "ABCC8" "0000245810" "ABCC8" "0000245811" "ABCC8" "0000245812" "ABCC8" "0000245813" "ABCC8" "0000245814" "ABCC8" "0000245815" "ABCC8" "0000245816" "ABCC8" "0000245817" "ABCC8" "0000245818" "ABCC8" "0000245819" "ABCC8" "0000245820" "ABCC8" "0000245821" "ABCC8" "0000245822" "ABCC8" "0000245823" "ABCC8" "0000245824" "ABCC8" "0000245825" "ABCC8" "0000245826" "ABCC8" "0000245827" "ABCC8" "0000245828" "ABCC8" "0000245829" "ABCC8" "0000245830" "ABCC8" "0000245831" "ABCC8" "0000245832" "ABCC8" "0000245833" "ABCC8" "0000245834" "ABCC8" "0000245835" "ABCC8" "0000245836" "ABCC8" "0000245837" "ABCC8" "0000245838" "ABCC8" "0000245839" "ABCC8" "0000245840" "ABCC8" "0000245841" "ABCC8" "0000245842" "ABCC8" "0000245843" "ABCC8" "0000245844" "ABCC8" "0000245845" "ABCC8" "0000245846" "ABCC8" "0000245847" "ABCC8" "0000245848" "ABCC8" "0000245849" "ABCC8" "0000245850" "ABCC8" "0000245851" "ABCC8" "0000245852" "ABCC8" "0000245853" "ABCC8" "0000245854" "ABCC8" "0000245855" "ABCC8" "0000245856" "ABCC8" "0000245857" "ABCC8" "0000245858" "ABCC8" "0000245859" "ABCC8" "0000245860" "ABCC8" "0000245861" "ABCC8" "0000245862" "ABCC8" "0000245863" "ABCC8" "0000245864" "ABCC8" "0000245865" "ABCC8" "0000245866" "ABCC8" "0000245867" "ABCC8" "0000245868" "ABCC8" "0000245869" "ABCC8" "0000245870" "ABCC8" "0000245871" "ABCC8" "0000245872" "ABCC8" "0000245873" "ABCC8" "0000245874" "ABCC8" "0000245875" "ABCC8" "0000245876" "ABCC8" "0000245877" "ABCC8" "0000245878" "ABCC8" "0000245879" "ABCC8" "0000245880" "ABCC8" "0000245881" "ABCC8" "0000245882" "ABCC8" "0000245883" "ABCC8" "0000245884" "ABCC8" "0000245885" "ABCC8" "0000245886" "ABCC8" "0000245887" "ABCC8" "0000245888" "ABCC8" "0000245889" "ABCC8" "0000245890" "ABCC8" "0000245891" "ABCC8" "0000245892" "ABCC8" "0000245893" "ABCC8" "0000245894" "ABCC8" "0000245895" "ABCC8" "0000245896" "ABCC8" "0000245897" "ABCC8" "0000245898" "ABCC8" "0000245899" "ABCC8" "0000245900" "ABCC8" "0000245901" "ABCC8" "0000245902" "ABCC8" "0000245903" "ABCC8" "0000245904" "ABCC8" "0000245905" "ABCC8" "0000245906" "ABCC8" "0000245907" "ABCC8" "0000245908" "ABCC8" "0000245909" "ABCC8" "0000245910" "ABCC8" "0000245911" "ABCC8" "0000245912" "ABCC8" "0000245913" "ABCC8" "0000245914" "ABCC8" "0000245915" "ABCC8" "0000245916" "ABCC8" "0000245917" "ABCC8" "0000245918" "ABCC8" "0000245919" "ABCC8" "0000245920" "ABCC8" "0000245921" "ABCC8" "0000245922" "ABCC8" "0000245923" "ABCC8" "0000245924" "ABCC8" "0000245925" "ABCC8" "0000245926" "ABCC8" "0000245927" "ABCC8" "0000245928" "ABCC8" "0000245929" "ABCC8" "0000245930" "ABCC8" "0000245931" "ABCC8" "0000245932" "ABCC8" "0000245933" "ABCC8" "0000245934" "ABCC8" "0000245935" "ABCC8" "0000245936" "ABCC8" "0000245937" "ABCC8" "0000245938" "ABCC8" "0000245939" "ABCC8" "0000245940" "ABCC8" "0000245941" "ABCC8" "0000245942" "ABCC8" "0000245943" "ABCC8" "0000307018" "ABCC8" "0000307033" "ABCC8" "0000307034" "ABCC8" "0000307316" "ABCC8" "0000307330" "ABCC8" "0000321622" "ABCC8" "0000321622" "KCNJ11" "0000321623" "ABCC8" "0000321623" "KCMF1" "0000321623" "KCNJ11" "0000321624" "ABCC8" "0000321624" "KCNJ11" "0000321629" "ABCC8" "0000321629" "KCNJ11" "0000321632" "ABCC8" "0000321632" "GCK" "0000321632" "HNF1A" "0000321632" "HNF4A" "0000321632" "KCNJ11" "0000321636" "ABCC8" "0000321636" "GCK" "0000321636" "KCNJ11" "0000321638" "ABCC8" "0000321638" "KCNJ11" "0000321639" "ABCC8" "0000321639" "KCNJ11" "0000321641" "ABCC8" "0000321641" "KCNJ11" "0000321644" "ABCC8" "0000321644" "KCNJ11" "0000321647" "ABCC8" "0000321647" "KCNJ11" "0000364454" "USH1C" "0000364455" "USH1C" "0000375834" "ABCC8" "0000453062" "ABCC8" ## 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 = 610 "{{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}}" "0000040391" "0" "30" "11" "17483205" "17483205" "subst" "4.06088E-6" "00705" "ABCC8_000101" "g.17483205G>A" "" "{PMID:Gilissen 2014:24896178}" "" "Ala249Ala" "" "De novo" "" "" "0" "" "" "g.17461658G>A" "" "likely benign" "" "0000248636" "0" "10" "11" "17496516" "17496516" "subst" "0.475101" "02325" "ABCC8_000166" "g.17496516A>G" "" "" "" "ABCC8(NM_000352.6):c.207T>C (p.P69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17474969A>G" "" "benign" "" "0000250495" "0" "70" "11" "17483314" "17483314" "subst" "0" "02329" "ABCC8_000158" "g.17483314A>G" "" "" "" "ABCC8(NM_001287174.3):c.638T>C (p.L213P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17461767A>G" "" "likely pathogenic" "" "0000258853" "0" "10" "11" "17452492" "17452492" "subst" "0.421789" "02325" "ABCC8_000143" "g.17452492G>A" "" "" "" "ABCC8(NM_000352.6):c.1686C>T (p.H562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17430945G>A" "" "benign" "" "0000258854" "0" "10" "11" "17434284" "17434284" "subst" "0.0966294" "02325" "ABCC8_000130" "g.17434284G>A" "" "" "" "ABCC8(NM_000352.6):c.2485C>T (p.L829=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17412737G>A" "" "benign" "" "0000258855" "0" "10" "11" "17429922" "17429922" "subst" "0.614883" "02325" "ABCC8_000127" "g.17429922T>C" "" "" "" "ABCC8(NM_000352.6):c.2820+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17408375T>C" "" "benign" "" "0000258856" "0" "10" "11" "17419279" "17419279" "subst" "0.290645" "02325" "ABCC8_000117" "g.17419279C>T" "" "" "" "ABCC8(NM_000352.6):c.3819G>A (p.R1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17397732C>T" "" "benign" "" "0000258857" "0" "10" "11" "17418477" "17418477" "subst" "0.634153" "02325" "ABCC8_000112" "g.17418477C>A" "" "" "" "ABCC8(NM_000352.6):c.4105G>T (p.A1369S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17396930C>A" "" "benign" "" "0000258858" "0" "10" "11" "17484971" "17484971" "subst" "0.387612" "02325" "ABCC8_000160" "g.17484971G>A" "" "" "" "ABCC8(NM_000352.6):c.579+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17463424G>A" "" "benign" "" "0000260450" "0" "70" "11" "17482118" "17482118" "subst" "1.2207E-5" "02326" "ABCC8_000153" "g.17482118C>T" "" "" "" "ABCC8(NM_001287174.2):c.928G>A (p.D310N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17460571C>T" "" "likely pathogenic" "" "0000261672" "0" "50" "11" "17474779" "17474779" "subst" "0.000458909" "01943" "ABCC8_000151" "g.17474779C>T" "" "" "" "ABCC8(NM_000352.3):c.1063G>A (p.(Ala355Thr)), ABCC8(NM_000352.6):c.1063G>A (p.A355T), ABCC8(NM_001287174.1):c.1063G>A (p.A355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17453232C>T" "" "VUS" "" "0000261673" "0" "30" "11" "17470059" "17470059" "del" "0.000982893" "01943" "ABCC8_000148" "g.17470059del" "" "" "" "ABCC8(NM_000352.3):c.1332+4delC (p.?), ABCC8(NM_001287174.1):c.1332+4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17448512del" "" "likely benign" "" "0000261674" "0" "30" "11" "17452471" "17452471" "subst" "0.00125937" "01943" "ABCC8_000142" "g.17452471G>A" "" "" "" "ABCC8(NM_000352.3):c.1707C>T (p.(Ala569=)), ABCC8(NM_001287174.1):c.1707C>T (p.A569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17430924G>A" "" "likely benign" "" "0000261675" "0" "30" "11" "17419224" "17419224" "subst" "0.000318809" "01943" "ABCC8_000116" "g.17419224C>T" "" "" "" "ABCC8(NM_000352.3):c.3867+7G>A (p.(=)), ABCC8(NM_001287174.1):c.3870+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17397677C>T" "" "likely benign" "" "0000261676" "0" "30" "11" "17418761" "17418761" "subst" "0" "01943" "ABCC8_000115" "g.17418761C>T" "" "" "" "ABCC8(NM_001287174.1):c.3970G>A (p.E1324K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17397214C>T" "" "likely benign" "" "0000261677" "0" "50" "11" "17483201" "17483201" "subst" "1.62437E-5" "01943" "ABCC8_000157" "g.17483201C>T" "" "" "" "ABCC8(NM_001287174.1):c.751G>A (p.G251R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17461654C>T" "" "VUS" "" "0000281717" "0" "10" "11" "17409572" "17409572" "subst" "0.638793" "02325" "KCNJ11_000017" "g.17409572T>C" "" "" "" "KCNJ11(NM_000525.4):c.67A>G (p.K23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17388025T>C" "" "benign" "" "0000322089" "0" "30" "11" "17409531" "17409531" "subst" "0.00106546" "01804" "KCNJ11_000016" "g.17409531C>T" "" "" "" "KCNJ11(NM_000525.3):c.108G>A (p.(Val36=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17387984C>T" "" "likely benign" "" "0000322091" "0" "10" "11" "17414556" "17414556" "subst" "0.00288848" "01804" "ABCC8_000102" "g.17414556G>A" "" "" "" "ABCC8(NM_000352.3):c.4728C>T (p.(Phe1576=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393009G>A" "" "benign" "" "0000322092" "0" "30" "11" "17414628" "17414628" "subst" "0.000341278" "01804" "ABCC8_000103" "g.17414628C>T" "" "" "" "ABCC8(NM_000352.3):c.4656G>A (p.(Lys1552=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393081C>T" "" "likely benign" "" "0000322093" "0" "70" "11" "17414671" "17414671" "subst" "0" "01804" "ABCC8_000104" "g.17414671C>T" "" "" "" "ABCC8(NM_000352.3):c.4613G>A (p.(Arg1538Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393124C>T" "" "likely pathogenic" "" "0000322094" "0" "70" "11" "17414674" "17414674" "subst" "0" "01804" "ABCC8_000105" "g.17414674T>C" "" "" "" "ABCC8(NM_000352.3):c.4610A>G (p.(His1537Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17393127T>C" "" "likely pathogenic" "" "0000322097" "0" "30" "11" "17415816" "17415816" "subst" "0.00105708" "01804" "ABCC8_000106" "g.17415816G>T" "" "" "" "ABCC8(NM_000352.3):c.4542C>A (p.(Ala1514=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17394269G>T" "" "likely benign" "" "0000322099" "0" "50" "11" "17417151" "17417151" "del" "0" "01804" "ABCC8_000108" "g.17417151del" "" "" "" "ABCC8(NM_000352.3):c.4307+9del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17395604del" "" "VUS" "" "0000322100" "0" "30" "11" "17417381" "17417381" "subst" "0.000219207" "01804" "ABCC8_000109" "g.17417381G>A" "" "" "" "ABCC8(NM_000352.3):c.4198+18C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17395834G>A" "" "likely benign" "" "0000322101" "0" "30" "11" "17417496" "17417496" "subst" "0.0179583" "01804" "ABCC8_000110" "g.17417496G>A" "" "" "" "ABCC8(NM_000352.3):c.4120-19C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17395949G>A" "" "likely benign" "" "0000322102" "0" "30" "11" "17418448" "17418448" "subst" "0.000240318" "01804" "ABCC8_000111" "g.17418448G>A" "" "" "" "ABCC8(NM_000352.3):c.4119+15C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17396901G>A" "" "likely benign" "" "0000322103" "0" "50" "11" "17418602" "17418602" "subst" "0.000312734" "01804" "ABCC8_000113" "g.17418602C>T" "" "" "" "ABCC8(NM_000352.3):c.3989-9G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17397055C>T" "" "VUS" "" "0000322105" "0" "30" "11" "17418753" "17418753" "subst" "0.000394601" "01804" "ABCC8_000114" "g.17418753G>A" "" "" "" "ABCC8(NM_000352.3):c.3975C>T (p.(Tyr1325=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17397206G>A" "" "likely benign" "" "0000322106" "0" "30" "11" "17424246" "17424246" "subst" "0.0202755" "01804" "ABCC8_000118" "g.17424246G>A" "" "" "" "ABCC8(NM_000352.3):c.3612C>T (p.(Ala1204=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17402699G>A" "" "likely benign" "" "0000322107" "0" "50" "11" "17424278" "17424278" "subst" "4.06114E-6" "01804" "ABCC8_000119" "g.17424278T>C" "" "" "" "ABCC8(NM_000352.3):c.3580A>G (p.(Thr1194Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17402731T>C" "" "VUS" "" "0000322109" "0" "30" "11" "17427028" "17427028" "subst" "0.000832426" "01804" "ABCC8_000121" "g.17427028C>T" "" "" "" "ABCC8(NM_000352.3):c.3399+13G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17405481C>T" "" "likely benign" "" "0000322110" "0" "10" "11" "17428163" "17428163" "subst" "0.0114525" "01804" "ABCC8_000122" "g.17428163G>A" "" "" "" "ABCC8(NM_000352.3):c.3329+6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17406616G>A" "" "benign" "" "0000322113" "0" "30" "11" "17428639" "17428639" "subst" "0.000872694" "01804" "ABCC8_000125" "g.17428639C>T" "" "" "" "ABCC8(NM_000352.3):c.2958G>A (p.(Ser986=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17407092C>T" "" "likely benign" "" "0000322115" "0" "50" "11" "17434225" "17434225" "subst" "2.48486E-5" "01804" "ABCC8_000128" "g.17434225G>A" "" "" "" "ABCC8(NM_000352.3):c.2544C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17412678G>A" "" "VUS" "" "0000322116" "0" "10" "11" "17434231" "17434231" "subst" "0.0024839" "01804" "ABCC8_000129" "g.17434231G>A" "" "" "" "ABCC8(NM_000352.3):c.2538C>T (p.(His846=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17412684G>A" "" "benign" "" "0000322118" "0" "10" "11" "17435042" "17435042" "subst" "0.00175481" "01804" "ABCC8_000132" "g.17435042C>A" "" "" "" "ABCC8(NM_000352.3):c.2391-17G>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17413495C>A" "" "benign" "" "0000322119" "0" "10" "11" "17436865" "17436865" "subst" "0.0272879" "01804" "ABCC8_000133" "g.17436865G>A" "" "" "" "ABCC8(NM_000352.3):c.2277C>T (p.(Thr759=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17415318G>A" "" "benign" "" "0000322121" "0" "30" "11" "17448584" "17448584" "subst" "0.000415316" "01804" "ABCC8_000135" "g.17448584T>C" "" "" "" "ABCC8(NM_000352.3):c.2222+12A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17427037T>C" "" "likely benign" "" "0000322122" "0" "30" "11" "17448609" "17448609" "subst" "9.34625E-5" "01804" "ABCC8_000136" "g.17448609C>T" "" "" "" "ABCC8(NM_000352.3):c.2209G>A (p.(Val737Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17427062C>T" "" "likely benign" "" "0000322123" "0" "30" "11" "17449950" "17449950" "subst" "0.000615036" "01804" "ABCC8_000137" "g.17449950G>C" "" "" "" "ABCC8(NM_000352.3):c.1926C>G (p.(Pro642=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17428403G>C" "" "likely benign" "" "0000322124" "0" "30" "11" "17449969" "17449969" "subst" "0.000935916" "01804" "ABCC8_000138" "g.17449969G>A" "" "" "" "ABCC8(NM_000352.3):c.1924-17C>T (p.(=)), ABCC8(NM_000352.6):c.1924-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17428422G>A" "" "likely benign" "" "0000322125" "0" "30" "11" "17450115" "17450115" "subst" "0.000488321" "01804" "ABCC8_000139" "g.17450115C>T" "" "" "" "ABCC8(NM_000352.3):c.1920G>A (p.(Ala640=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17428568C>T" "" "likely benign" "" "0000322126" "0" "30" "11" "17450116" "17450116" "subst" "0.000105789" "01804" "ABCC8_000140" "g.17450116G>A" "" "" "" "ABCC8(NM_000352.3):c.1919C>T (p.(Ala640Val)), ABCC8(NM_000352.6):c.1919C>T (p.A640V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17428569G>A" "" "likely benign" "" "0000322127" "0" "30" "11" "17450177" "17450177" "subst" "0.000630286" "01804" "ABCC8_000141" "g.17450177G>A" "" "" "" "ABCC8(NM_000352.3):c.1858C>T (p.(Arg620Cys)), ABCC8(NM_000352.6):c.1858C>T (p.R620C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17428630G>A" "" "likely benign" "" "0000322129" "0" "30" "11" "17452471" "17452471" "subst" "0.00125937" "01804" "ABCC8_000142" "g.17452471G>A" "" "" "" "ABCC8(NM_000352.3):c.1707C>T (p.(Ala569=)), ABCC8(NM_001287174.1):c.1707C>T (p.A569=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17430924G>A" "" "likely benign" "" "0000322130" "0" "30" "11" "17453778" "17453778" "subst" "9.93614E-5" "01804" "ABCC8_000144" "g.17453778C>A" "" "" "" "ABCC8(NM_000352.3):c.1644G>T (p.(Thr548=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17432231C>A" "" "likely benign" "" "0000322131" "0" "70" "11" "17464320" "17464320" "subst" "8.13273E-6" "01804" "ABCC8_000145" "g.17464320C>A" "" "" "" "ABCC8(NM_000352.3):c.1577G>T (p.(Arg526Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17442773C>A" "" "likely pathogenic" "" "0000322132" "0" "30" "11" "17464325" "17464325" "subst" "0.00258214" "01804" "ABCC8_000146" "g.17464325C>T" "" "" "" "ABCC8(NM_000352.3):c.1572G>A (p.(Thr524=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17442778C>T" "" "likely benign" "" "0000322133" "0" "30" "11" "17464808" "17464808" "subst" "0.000861354" "01804" "ABCC8_000147" "g.17464808T>C" "" "" "" "ABCC8(NM_000352.3):c.1384A>G (p.(Ile462Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17443261T>C" "" "likely benign" "" "0000322134" "0" "30" "11" "17470059" "17470059" "del" "0.000982893" "01804" "ABCC8_000148" "g.17470059del" "" "" "" "ABCC8(NM_000352.3):c.1332+4delC (p.?), ABCC8(NM_001287174.1):c.1332+4delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17448512del" "" "likely benign" "" "0000322136" "0" "50" "11" "17470143" "17470143" "subst" "0.000694382" "01804" "ABCC8_000149" "g.17470143A>G" "" "" "" "ABCC8(NM_000352.3):c.1252T>C (p.(Cys418Arg)), ABCC8(NM_000352.5):c.1252T>C (p.C418R), ABCC8(NM_000352.6):c.1252T>C (p.C418R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17448596A>G" "" "VUS" "" "0000322137" "0" "30" "11" "17474684" "17474684" "subst" "0.00325279" "01804" "ABCC8_000150" "g.17474684G>A" "" "" "" "ABCC8(NM_000352.3):c.1158C>T (p.(Asn386=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17453137G>A" "" "likely benign" "" "0000322140" "0" "50" "11" "17482233" "17482233" "subst" "0" "01804" "ABCC8_000155" "g.17482233G>A" "" "" "" "ABCC8(NM_000352.3):c.823-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17460686G>A" "" "VUS" "" "0000322141" "0" "30" "11" "17483110" "17483110" "subst" "0.000330186" "01804" "ABCC8_000156" "g.17483110G>A" "" "" "" "ABCC8(NM_000352.3):c.822+20C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17461563G>A" "" "likely benign" "" "0000322143" "0" "30" "11" "17485141" "17485141" "subst" "0.00480784" "01804" "ABCC8_000161" "g.17485141C>T" "" "" "" "ABCC8(NM_000352.3):c.423G>A (p.(Val141=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17463594C>T" "" "likely benign" "" "0000322145" "0" "30" "11" "17491706" "17491706" "subst" "0.0046669" "01804" "ABCC8_000163" "g.17491706G>A" "" "" "" "ABCC8(NM_000352.3):c.354C>T (p.(Val118=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17470159G>A" "" "likely benign" "" "0000322147" "0" "30" "11" "17496444" "17496444" "subst" "0.000438597" "01804" "ABCC8_000165" "g.17496444G>T" "" "" "" "ABCC8(NM_000352.3):c.279C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17474897G>T" "" "likely benign" "" "0000322148" "0" "30" "11" "17498219" "17498219" "subst" "0.000232786" "01804" "ABCC8_000167" "g.17498219C>T" "" "" "" "ABCC8(NM_000352.3):c.105G>A (p.(Pro35=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17476672C>T" "" "likely benign" "" "0000341072" "0" "50" "11" "17428327" "17428327" "subst" "4.06091E-6" "02327" "ABCC8_000171" "g.17428327G>A" "" "" "" "ABCC8(NM_000352.3):c.3171C>T (p.(Thr1057=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17406780G>A" "" "VUS" "" "0000343053" "0" "50" "11" "17464335" "17464335" "subst" "0.000105725" "02327" "ABCC8_000172" "g.17464335C>T" "" "" "" "ABCC8(NM_000352.3):c.1562G>A (p.(Arg521Gln)), ABCC8(NM_000352.6):c.1562G>A (p.R521Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17442788C>T" "" "VUS" "" "0000345946" "0" "50" "11" "17482207" "17482207" "subst" "0" "02327" "ABCC8_000174" "g.17482207C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17460660C>T" "" "VUS" "" "0000349694" "0" "50" "11" "17416779" "17416779" "subst" "0" "02327" "ABCC8_000170" "g.17416779A>G" "" "" "" "ABCC8(NM_000352.3):c.4351T>C (p.(Trp1451Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17395232A>G" "" "VUS" "" "0000350116" "0" "90" "11" "17464424" "17464424" "subst" "0" "02327" "ABCC8_000173" "g.17464424A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.17442877A>C" "" "pathogenic" "" "0000374101" "3" "99" "11" "17431532" "17554222" "del" "0" "02416" "USH1C_000034" "g.17431532_17554222del" "" "{PMID:Bitner-Glindzicz 2000:10973248}" "" "105_2700del" "" "Germline" "yes" "" "0" "" "" "g.17409985_17532675del" "" "pathogenic (recessive)" "" "0000374102" "3" "99" "11" "17431532" "17554222" "del" "0" "02416" "USH1C_000034" "g.17431532_17554222del" "" "{PMID:Bitner-Glindzicz 2000:10973248}" "" "" "" "Germline" "yes" "" "0" "" "" "g.17409985_17532675del" "" "pathogenic (recessive)" "" "0000374103" "3" "99" "11" "17431532" "17554222" "del" "0" "02416" "USH1C_000034" "g.17431532_17554222del" "" "{PMID:Bitner-Glindzicz 2000:10973248}" "" "105_2700del" "" "Germline" "yes" "" "0" "" "" "g.17409985_17532675del" "" "pathogenic (recessive)" "" "0000497876" "0" "50" "11" "17498284" "17498284" "subst" "0" "01905" "ABCC8_000408" "g.17498284C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476737C>A" "" "VUS" "" "0000497877" "0" "50" "11" "17498280" "17498280" "subst" "0" "01905" "ABCC8_000407" "g.17498280T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476733T>A" "" "VUS" "" "0000497878" "0" "50" "11" "17498203" "17498203" "subst" "0" "01905" "ABCC8_000402" "g.17498203A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476656A>G" "" "VUS" "" "0000497879" "0" "50" "11" "17496548" "17496548" "subst" "0" "01905" "ABCC8_000398" "g.17496548G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17475001G>T" "" "VUS" "" "0000497880" "0" "50" "11" "17491769" "17491769" "subst" "0" "01905" "ABCC8_000393" "g.17491769C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17470222C>A" "" "VUS" "" "0000497881" "0" "50" "11" "17491699" "17491699" "subst" "0" "01905" "ABCC8_000392" "g.17491699C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17470152C>T" "" "VUS" "" "0000497882" "0" "50" "11" "17491698" "17491698" "subst" "0" "01905" "ABCC8_000391" "g.17491698A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17470151A>G" "" "VUS" "" "0000497883" "0" "50" "11" "17491680" "17491680" "subst" "0" "01905" "ABCC8_000390" "g.17491680A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17470133A>G" "" "VUS" "" "0000497884" "0" "50" "11" "17491650" "17491650" "subst" "0" "01905" "ABCC8_000388" "g.17491650A>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17470103A>C" "" "VUS" "" "0000497885" "0" "50" "11" "17483386" "17483388" "del" "1.22478E-5" "01905" "ABCC8_000384" "g.17483386_17483388del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461839_17461841del" "" "VUS" "" "0000497886" "0" "50" "11" "17483371" "17483371" "subst" "0" "01905" "ABCC8_000381" "g.17483371C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461824C>T" "" "VUS" "" "0000497887" "0" "50" "11" "17483350" "17483350" "subst" "0" "01905" "ABCC8_000380" "g.17483350G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461803G>A" "" "VUS" "" "0000497888" "0" "50" "11" "17483234" "17483234" "subst" "0" "01905" "ABCC8_000373" "g.17483234C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461687C>T" "" "VUS" "" "0000497889" "0" "50" "11" "17483183" "17483183" "subst" "4.06088E-6" "01905" "ABCC8_000371" "g.17483183T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461636T>G" "" "VUS" "" "0000497890" "0" "50" "11" "17483182" "17483182" "subst" "0" "01905" "ABCC8_000370" "g.17483182A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461635A>G" "" "VUS" "" "0000497891" "0" "50" "11" "17483143" "17483143" "subst" "0" "01905" "ABCC8_000369" "g.17483143A>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461596A>C" "" "VUS" "" "0000497892" "0" "50" "11" "17482168" "17482168" "subst" "0" "01905" "ABCC8_000366" "g.17482168T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17460621T>G" "" "VUS" "" "0000497893" "0" "50" "11" "17482099" "17482099" "subst" "0" "01905" "ABCC8_000365" "g.17482099C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17460552C>T" "" "VUS" "" "0000497894" "0" "50" "11" "17474818" "17474818" "subst" "1.6245E-5" "01905" "ABCC8_000362" "g.17474818C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453271C>T" "" "VUS" "" "0000497895" "0" "50" "11" "17474773" "17474773" "subst" "3.65506E-5" "01905" "ABCC8_000358" "g.17474773C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453226C>T" "" "VUS" "" "0000497896" "0" "50" "11" "17470212" "17470212" "subst" "8.12183E-6" "01905" "ABCC8_000350" "g.17470212T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17448665T>A" "" "VUS" "" "0000497897" "0" "50" "11" "17470157" "17470157" "subst" "0" "01905" "ABCC8_000349" "g.17470157G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17448610G>C" "" "VUS" "" "0000497898" "0" "50" "11" "17470124" "17470124" "subst" "0" "01905" "ABCC8_000348" "g.17470124T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17448577T>C" "" "VUS" "" "0000497899" "0" "50" "11" "17464855" "17464855" "subst" "1.21897E-5" "01905" "ABCC8_000345" "g.17464855A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17443308A>G" "" "VUS" "" "0000497900" "0" "50" "11" "17464823" "17464823" "subst" "4.87611E-5" "01905" "ABCC8_000343" "g.17464823C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17443276C>T" "" "VUS" "" "0000497901" "0" "50" "11" "17464387" "17464387" "subst" "8.13974E-6" "01905" "ABCC8_000339" "g.17464387G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442840G>A" "" "VUS" "" "0000497902" "0" "50" "11" "17464384" "17464384" "subst" "0" "01905" "ABCC8_000337" "g.17464384C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442837C>A" "" "VUS" "" "0000497903" "0" "50" "11" "17464360" "17464360" "subst" "4.88031E-5" "01905" "ABCC8_000336" "g.17464360C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442813C>T" "" "VUS" "" "0000497904" "0" "50" "11" "17464336" "17464336" "subst" "2.84673E-5" "01905" "ABCC8_000335" "g.17464336G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442789G>A" "" "VUS" "" "0000497905" "0" "50" "11" "17464333" "17464333" "subst" "8.1324E-6" "01905" "ABCC8_000334" "g.17464333C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442786C>T" "" "VUS" "" "0000497906" "0" "50" "11" "17464288" "17464288" "subst" "0" "01905" "ABCC8_000332" "g.17464288C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442741C>T" "" "VUS" "" "0000497907" "0" "50" "11" "17452455" "17452455" "subst" "4.06147E-6" "01905" "ABCC8_000327" "g.17452455C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430908C>T" "" "VUS" "" "0000497908" "0" "50" "11" "17452437" "17452437" "subst" "8.12229E-6" "01905" "ABCC8_000325" "g.17452437A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430890A>T" "" "VUS" "" "0000497909" "0" "50" "11" "17450198" "17450198" "subst" "0" "01905" "ABCC8_000320" "g.17450198A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428651A>G" "" "VUS" "" "0000497910" "0" "50" "11" "17449996" "17449996" "subst" "0" "01905" "ABCC8_000319" "g.17449996T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428449T>C" "" "VUS" "" "0000497911" "0" "50" "11" "17449909" "17449909" "subst" "4.06583E-6" "01905" "ABCC8_000316" "g.17449909C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428362C>A" "" "VUS" "" "0000497912" "0" "50" "11" "17449426" "17449426" "subst" "9.35949E-5" "01905" "ABCC8_000313" "g.17449426G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427879G>A" "" "VUS" "" "0000497913" "0" "50" "11" "17449353" "17449353" "subst" "0" "01905" "ABCC8_000310" "g.17449353T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427806T>C" "" "VUS" "" "0000497914" "0" "50" "11" "17448627" "17448627" "subst" "1.2189E-5" "01905" "ABCC8_000305" "g.17448627G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427080G>C" "" "VUS" "" "0000497915" "0" "50" "11" "17436144" "17436144" "subst" "2.0307E-5" "01905" "ABCC8_000301" "g.17436144C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17414597C>T" "" "VUS" "" "0000497916" "0" "50" "11" "17434281" "17434281" "subst" "0" "01905" "ABCC8_000293" "g.17434281A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412734A>T" "" "VUS" "" "0000497917" "0" "50" "11" "17434268" "17434268" "subst" "2.4936E-5" "01905" "ABCC8_000292" "g.17434268C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412721C>T" "" "VUS" "" "0000497918" "0" "50" "11" "17434260" "17434260" "subst" "0" "01905" "ABCC8_000291" "g.17434260T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412713T>C" "" "VUS" "" "0000497919" "0" "50" "11" "17434253" "17434253" "subst" "0" "01905" "ABCC8_000290" "g.17434253A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412706A>G" "" "VUS" "" "0000497920" "0" "50" "11" "17434226" "17434226" "subst" "0" "01905" "ABCC8_000287" "g.17434226T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412679T>G" "" "VUS" "" "0000497921" "0" "50" "11" "17432172" "17432172" "subst" "8.12163E-6" "01905" "ABCC8_000284" "g.17432172T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17410625T>C" "" "VUS" "" "0000497922" "0" "50" "11" "17429961" "17429961" "subst" "1.21871E-5" "01905" "ABCC8_000280" "g.17429961C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17408414C>T" "" "VUS" "" "0000497923" "0" "50" "11" "17428596" "17428596" "subst" "2.87872E-5" "01905" "ABCC8_000273" "g.17428596C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17407049C>T" "" "VUS" "" "0000497924" "0" "50" "11" "17428544" "17428544" "subst" "8.15228E-6" "01905" "ABCC8_000272" "g.17428544G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406997G>A" "" "VUS" "" "0000497925" "0" "50" "11" "17428487" "17428487" "subst" "0" "01905" "ABCC8_000271" "g.17428487G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406940G>T" "" "VUS" "" "0000497926" "0" "50" "11" "17426123" "17426123" "subst" "9.74698E-5" "01905" "ABCC8_000255" "g.17426123C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404576C>T" "" "VUS" "" "0000497927" "0" "50" "11" "17424319" "17424319" "subst" "0" "01905" "ABCC8_000251" "g.17424319T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402772T>G" "" "VUS" "" "0000497928" "0" "50" "11" "17424236" "17424236" "subst" "0" "01905" "ABCC8_000246" "g.17424236C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402689C>T" "" "VUS" "" "0000497929" "0" "50" "11" "17424210" "17424210" "subst" "0" "01905" "ABCC8_000245" "g.17424210G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402663G>C" "" "VUS" "" "0000497930" "0" "50" "11" "17424204" "17424204" "subst" "0.000162435" "01905" "ABCC8_000243" "g.17424204G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402657G>C" "" "VUS" "" "0000497931" "0" "50" "11" "17419920" "17419920" "subst" "0" "01905" "ABCC8_000241" "g.17419920A>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17398373A>C" "" "VUS" "" "0000497932" "0" "50" "11" "17419896" "17419896" "subst" "0" "01905" "ABCC8_000240" "g.17419896T>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17398349T>G" "" "VUS" "" "0000497933" "0" "50" "11" "17419343" "17419343" "subst" "0" "01905" "ABCC8_000238" "g.17419343T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397796T>C" "" "VUS" "" "0000497934" "0" "50" "11" "17419323" "17419323" "subst" "5.70558E-5" "01905" "ABCC8_000237" "g.17419323C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397776C>T" "" "VUS" "" "0000497935" "0" "50" "11" "17418603" "17418603" "subst" "0.000434592" "01905" "ABCC8_000224" "g.17418603G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397056G>A" "" "VUS" "" "0000497936" "0" "50" "11" "17417494" "17417494" "subst" "0" "01905" "ABCC8_000220" "g.17417494A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395947A>G" "" "VUS" "" "0000497937" "0" "50" "11" "17417199" "17417199" "subst" "0" "01905" "ABCC8_000211" "g.17417199G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395652G>A" "" "VUS" "" "0000497938" "0" "50" "11" "17417188" "17417188" "subst" "0" "01905" "ABCC8_000210" "g.17417188G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395641G>T" "" "VUS" "" "0000497939" "0" "50" "11" "17416816" "17416816" "subst" "0" "01905" "ABCC8_000205" "g.17416816G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395269G>A" "" "VUS" "" "0000497940" "0" "50" "11" "17416808" "17416808" "subst" "0" "01905" "ABCC8_000204" "g.17416808G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395261G>A" "" "VUS" "" "0000497941" "0" "50" "11" "17416779" "17416779" "subst" "0" "01905" "ABCC8_000170" "g.17416779A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395232A>G" "" "VUS" "" "0000497942" "0" "50" "11" "17416761" "17416761" "subst" "0" "01905" "ABCC8_000202" "g.17416761C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395214C>G" "" "VUS" "" "0000497943" "0" "50" "11" "17415927" "17415927" "subst" "0.000170554" "01905" "ABCC8_000201" "g.17415927G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394380G>A" "" "VUS" "" "0000497944" "0" "50" "11" "17415876" "17415876" "subst" "0.000251811" "01905" "ABCC8_000196" "g.17415876G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394329G>A" "" "VUS" "" "0000497945" "0" "50" "11" "17415872" "17415872" "subst" "1.21854E-5" "01905" "ABCC8_000195" "g.17415872C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394325C>T" "" "VUS" "" "0000497946" "0" "50" "11" "17415850" "17415850" "subst" "0" "01905" "ABCC8_000194" "g.17415850A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394303A>T" "" "VUS" "" "0000497947" "0" "50" "11" "17415263" "17415263" "subst" "8.12123E-6" "01905" "ABCC8_000189" "g.17415263C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393716C>T" "" "VUS" "" "0000497948" "0" "50" "11" "17415255" "17415255" "subst" "0" "01905" "ABCC8_000188" "g.17415255C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393708C>G" "" "VUS" "" "0000497949" "0" "50" "11" "17414561" "17414561" "subst" "0" "01905" "ABCC8_000180" "g.17414561A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393014A>G" "" "VUS" "" "0000497950" "0" "50" "11" "17414551" "17414551" "subst" "4.46929E-5" "01905" "ABCC8_000179" "g.17414551C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393004C>T" "" "VUS" "" "0000497951" "0" "90" "11" "17482034" "17498324" "del" "0" "01905" "ABCC8_000175" "g.(17474831_17482034)_(17498324_?)del" "" "De Franco et al 2019, submitted" "" "c.(?-1)_(1011+1_1012-1)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000497952" "0" "90" "11" "17414537" "17498324" "del" "0" "01905" "ABCC8_000177" "g.(?_17414537)_(17498324_?)del" "" "De Franco et al 2019, submitted" "" "c.(?-1)_(4749+?)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000497953" "0" "90" "11" "17498305" "17498305" "subst" "0" "01905" "ABCC8_000411" "g.17498305C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476758C>A" "" "pathogenic" "" "0000497954" "0" "90" "11" "17498299" "17498299" "subst" "0" "01905" "ABCC8_000410" "g.17498299C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476752C>A" "" "pathogenic" "" "0000497955" "0" "90" "11" "17498296" "17498296" "del" "0" "01905" "ABCC8_000409" "g.17498296del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476749del" "" "pathogenic" "" "0000497956" "0" "90" "11" "17498269" "17498269" "subst" "4.29686E-6" "01905" "ABCC8_000406" "g.17498269G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476722G>A" "" "pathogenic" "" "0000497957" "0" "90" "11" "17498251" "17498251" "del" "0" "01905" "ABCC8_000405" "g.17498251del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476704del" "" "pathogenic" "" "0000497958" "0" "90" "11" "17498246" "17498246" "subst" "0" "01905" "ABCC8_000404" "g.17498246G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476699G>C" "" "pathogenic" "" "0000497959" "0" "90" "11" "17498242" "17498243" "ins" "0" "01905" "ABCC8_000403" "g.17498242_17498243insT" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476695_17476696insT" "" "pathogenic" "" "0000497960" "0" "90" "11" "17498187" "17498187" "subst" "0" "01905" "ABCC8_000401" "g.17498187A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476640A>G" "" "pathogenic" "" "0000497961" "0" "90" "11" "17498175" "17498175" "subst" "0" "01905" "ABCC8_000400" "g.17498175C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17476628C>T" "" "pathogenic" "" "0000497962" "0" "90" "11" "17496432" "17496575" "del" "0" "01905" "ABCC8_000394" "g.(17491770_17496432)_(17496575_17498175)del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000497963" "0" "90" "11" "17496550" "17496550" "subst" "0" "01905" "ABCC8_000399" "g.17496550A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17475003A>T" "" "pathogenic" "" "0000497964" "0" "90" "11" "17496528" "17496528" "subst" "0" "01905" "ABCC8_000397" "g.17496528C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17474981C>T" "" "pathogenic" "" "0000497965" "0" "90" "11" "17496502" "17496502" "subst" "4.06121E-6" "01905" "ABCC8_000396" "g.17496502C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17474955C>A" "" "pathogenic" "" "0000497966" "0" "90" "11" "17496494" "17496498" "del" "0" "01905" "ABCC8_000395" "g.17496494_17496498del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17474947_17474951del" "" "pathogenic" "" "0000497967" "0" "90" "11" "17483129" "17491770" "del" "0" "01905" "ABCC8_000368" "g.(17482224_17483129)_(17491770_17496432)del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000497968" "0" "90" "11" "17491662" "17491662" "subst" "0" "01905" "ABCC8_000389" "g.17491662G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17470115G>C" "" "pathogenic" "" "0000497969" "0" "90" "11" "17484984" "17485152" "del" "0" "01905" "ABCC8_000385" "g.(17483373_17484984)_(17485152_17491647)del" "" "De Franco et al 2019, submitted" "" "c.413-?_579+?del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000497970" "0" "90" "11" "17485151" "17485151" "del" "0" "01905" "ABCC8_000387" "g.17485151del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17463604del" "" "pathogenic" "" "0000497971" "0" "90" "11" "17485042" "17485042" "dup" "0" "01905" "ABCC8_000386" "g.17485042dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17463495dup" "" "pathogenic" "" "0000497972" "0" "90" "11" "17483375" "17483375" "subst" "4.07515E-6" "01905" "ABCC8_000383" "g.17483375G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461828G>C" "" "pathogenic" "" "0000497973" "0" "90" "11" "17483374" "17483374" "subst" "0" "01905" "ABCC8_000382" "g.17483374T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461827T>C" "" "pathogenic" "" "0000497974" "0" "90" "11" "17483335" "17483335" "subst" "0" "01905" "ABCC8_000379" "g.17483335G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461788G>A" "" "pathogenic" "" "0000497975" "0" "90" "11" "17483317" "17483317" "subst" "0" "01905" "ABCC8_000378" "g.17483317T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461770T>C" "" "pathogenic" "" "0000497976" "0" "90" "11" "17483316" "17483316" "subst" "0" "01905" "ABCC8_000377" "g.17483316G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461769G>C" "" "pathogenic" "" "0000497977" "0" "90" "11" "17483277" "17483278" "ins" "0" "01905" "ABCC8_000376" "g.17483277_17483278insTGCTACTTCGTG" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461730_17461731insTGCTACTTCGTG" "" "pathogenic" "" "0000497978" "0" "90" "11" "17483263" "17483263" "subst" "0.000105576" "01905" "ABCC8_000375" "g.17483263T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461716T>C" "" "pathogenic" "" "0000497979" "0" "90" "11" "17483248" "17483248" "subst" "0" "01905" "ABCC8_000374" "g.17483248G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461701G>A" "" "pathogenic" "" "0000497980" "0" "90" "11" "17483191" "17483191" "subst" "0" "01905" "ABCC8_000372" "g.17483191G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17461644G>A" "" "pathogenic" "" "0000497981" "0" "90" "11" "17482202" "17482202" "subst" "0" "01905" "ABCC8_000367" "g.17482202G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17460655G>A" "" "pathogenic" "" "0000497982" "0" "90" "11" "17482061" "17482061" "subst" "0" "01905" "ABCC8_000364" "g.17482061T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17460514T>A" "" "pathogenic" "" "0000497983" "0" "90" "11" "17474832" "17474832" "subst" "0" "01905" "ABCC8_000363" "g.17474832T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453285T>C" "" "pathogenic" "" "0000497984" "0" "90" "11" "17474810" "17474810" "subst" "0" "01905" "ABCC8_000361" "g.17474810G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453263G>C" "" "pathogenic" "" "0000497985" "0" "90" "11" "17474793" "17474793" "subst" "0" "01905" "ABCC8_000360" "g.17474793T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453246T>C" "" "pathogenic" "" "0000497986" "0" "90" "11" "17474774" "17474774" "subst" "0" "01905" "ABCC8_000359" "g.17474774G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453227G>C" "" "pathogenic" "" "0000497987" "0" "90" "11" "17474763" "17474763" "subst" "0" "01905" "ABCC8_000357" "g.17474763A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453216A>G" "" "pathogenic" "" "0000497988" "0" "90" "11" "17474757" "17474757" "del" "0" "01905" "ABCC8_000356" "g.17474757del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453210del" "" "pathogenic" "" "0000497989" "0" "90" "11" "17474746" "17474746" "subst" "0" "01905" "ABCC8_000355" "g.17474746G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453199G>A" "" "pathogenic" "" "0000497990" "0" "90" "11" "17474730" "17474730" "subst" "4.06095E-6" "01905" "ABCC8_000354" "g.17474730G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453183G>A" "" "pathogenic" "" "0000497991" "0" "90" "11" "17474722" "17474722" "subst" "0" "01905" "ABCC8_000353" "g.17474722G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453175G>A" "" "pathogenic" "" "0000497992" "0" "90" "11" "17474705" "17474705" "del" "0" "01905" "ABCC8_000352" "g.17474705del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453158del" "" "pathogenic" "" "0000497993" "0" "90" "11" "17474687" "17474696" "del" "0" "01905" "ABCC8_000351" "g.17474687_17474696del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17453140_17453149del" "" "pathogenic" "" "0000497994" "0" "90" "11" "17470062" "17470062" "subst" "0" "01905" "ABCC8_000347" "g.17470062C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17448515C>T" "" "pathogenic" "" "0000497995" "0" "90" "11" "17470060" "17470060" "subst" "0" "01905" "ABCC8_000346" "g.17470060T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17448513T>C" "" "pathogenic" "" "0000497996" "0" "90" "11" "17453750" "17464860" "dup" "0" "01905" "ABCC8_000330" "g.(17452507_17453750)_(17464860_17470062)dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000497997" "0" "90" "11" "17464854" "17464855" "dup" "0" "01905" "ABCC8_000344" "g.17464854_17464855dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17443307_17443308dup" "" "pathogenic" "" "0000497998" "0" "90" "11" "17464719" "17464719" "subst" "0" "01905" "ABCC8_000342" "g.17464719A>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17443172A>C" "" "pathogenic" "" "0000497999" "0" "90" "11" "17464477" "17464477" "subst" "0" "01905" "ABCC8_000341" "g.17464477C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442930C>T" "" "pathogenic" "" "0000498000" "0" "90" "11" "17464401" "17464401" "dup" "0" "01905" "ABCC8_000340" "g.17464401dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442854dup" "" "pathogenic" "" "0000498001" "0" "90" "11" "17464384" "17464384" "subst" "0" "01905" "ABCC8_000338" "g.17464384C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442837C>G" "" "pathogenic" "" "0000498002" "0" "90" "11" "17464290" "17464290" "subst" "0" "01905" "ABCC8_000333" "g.17464290A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17442743A>G" "" "pathogenic" "" "0000498003" "0" "90" "11" "17453793" "17453793" "subst" "0" "01905" "ABCC8_000331" "g.17453793T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17432246T>A" "" "pathogenic" "" "0000498004" "0" "90" "11" "17452526" "17452526" "subst" "0" "01905" "ABCC8_000329" "g.17452526T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430979T>A" "" "pathogenic" "" "0000498005" "0" "90" "11" "17452492" "17452496" "del" "0" "01905" "ABCC8_000328" "g.17452492_17452496del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430945_17430949del" "" "pathogenic" "" "0000498006" "0" "90" "11" "17452447" "17452447" "subst" "0" "01905" "ABCC8_000326" "g.17452447A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430900A>G" "" "pathogenic" "" "0000498007" "0" "90" "11" "17452418" "17452418" "subst" "0" "01905" "ABCC8_000324" "g.17452418A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430871A>T" "" "pathogenic" "" "0000498008" "0" "90" "11" "17452398" "17452398" "subst" "0" "01905" "ABCC8_000323" "g.17452398A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17430851A>G" "" "pathogenic" "" "0000498009" "0" "90" "11" "17450207" "17450209" "delins" "0" "01905" "ABCC8_000322" "g.17450207_17450209delinsCC" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428660_17428662delinsCC" "" "pathogenic" "" "0000498010" "0" "90" "11" "17450199" "17450199" "subst" "8.14226E-6" "01905" "ABCC8_000321" "g.17450199C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428652C>A" "" "pathogenic" "" "0000498011" "0" "90" "11" "17449954" "17449954" "subst" "0" "01905" "ABCC8_000318" "g.17449954T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428407T>A" "" "pathogenic" "" "0000498012" "0" "90" "11" "17449916" "17449916" "subst" "0" "01905" "ABCC8_000317" "g.17449916C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17428369C>A" "" "pathogenic" "" "0000498013" "0" "90" "11" "17449491" "17449491" "subst" "0" "01905" "ABCC8_000315" "g.17449491T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427944T>C" "" "pathogenic" "" "0000498014" "0" "90" "11" "17449490" "17449490" "subst" "0" "01905" "ABCC8_000314" "g.17449490C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427943C>T" "" "pathogenic" "" "0000498015" "0" "90" "11" "17449417" "17449417" "subst" "0" "01905" "ABCC8_000312" "g.17449417G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427870G>A" "" "pathogenic" "" "0000498016" "0" "90" "11" "17449413" "17449413" "subst" "0" "01905" "ABCC8_000311" "g.17449413C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427866C>G" "" "pathogenic" "" "0000498017" "0" "90" "11" "17448681" "17448681" "subst" "0" "01905" "ABCC8_000309" "g.17448681C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427134C>G" "" "pathogenic" "" "0000498018" "0" "90" "11" "17448678" "17448678" "subst" "0" "01905" "ABCC8_000308" "g.17448678G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427131G>A" "" "pathogenic" "" "0000498019" "0" "90" "11" "17448675" "17448675" "subst" "0" "01905" "ABCC8_000307" "g.17448675C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427128C>T" "" "pathogenic" "" "0000498020" "0" "90" "11" "17448633" "17448633" "subst" "0" "01905" "ABCC8_000306" "g.17448633C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427086C>A" "" "pathogenic" "" "0000498021" "0" "90" "11" "17448595" "17448595" "subst" "0" "01905" "ABCC8_000304" "g.17448595C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17427048C>T" "" "pathogenic" "" "0000498022" "0" "90" "11" "17436876" "17436876" "subst" "0" "01905" "ABCC8_000303" "g.17436876C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17415329C>A" "" "pathogenic" "" "0000498023" "0" "90" "11" "17436142" "17436154" "delins" "0" "01905" "ABCC8_000300" "g.17436142_17436154delinsTT" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17414595_17414607delinsTT" "" "pathogenic" "" "0000498024" "0" "90" "11" "17436154" "17436155" "del" "0" "01905" "ABCC8_000302" "g.17436154_17436155del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17414607_17414608del" "" "pathogenic" "" "0000498025" "0" "90" "11" "17436075" "17436075" "del" "0" "01905" "ABCC8_000299" "g.17436075del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17414528del" "" "pathogenic" "" "0000498026" "0" "90" "11" "17435022" "17435022" "del" "0" "01905" "ABCC8_000298" "g.17435022del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17413475del" "" "pathogenic" "" "0000498027" "0" "90" "11" "17435002" "17435002" "subst" "0" "01905" "ABCC8_000297" "g.17435002C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17413455C>T" "" "pathogenic" "" "0000498028" "0" "90" "11" "17434987" "17434987" "subst" "0" "01905" "ABCC8_000296" "g.17434987T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17413440T>A" "" "pathogenic" "" "0000498029" "0" "90" "11" "17434294" "17434294" "subst" "0" "01905" "ABCC8_000295" "g.17434294C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412747C>T" "" "pathogenic" "" "0000498030" "0" "90" "11" "17434294" "17434294" "del" "0" "01905" "ABCC8_000294" "g.17434294del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412747del" "" "pathogenic" "" "0000498031" "0" "90" "11" "17434250" "17434250" "del" "0" "01905" "ABCC8_000289" "g.17434250del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412703del" "" "pathogenic" "" "0000498032" "0" "90" "11" "17434247" "17434247" "subst" "0" "01905" "ABCC8_000288" "g.17434247C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412700C>G" "" "pathogenic" "" "0000498033" "0" "90" "11" "17434198" "17434210" "delins" "0" "01905" "ABCC8_000286" "g.17434198_17434210delinsACAAGGACCCCAGG" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17412651_17412663delinsACAAGGACCCCAGG" "" "pathogenic" "" "0000498034" "0" "90" "11" "17432201" "17432201" "subst" "0" "01905" "ABCC8_000285" "g.17432201C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17410654C>T" "" "pathogenic" "" "0000498035" "0" "90" "11" "17428168" "17432201" "del" "0" "01905" "ABCC8_000264" "g.(17427111_17428168)_(17432201_17434212)del" "" "De Franco et al 2019, submitted" "" "c.(2559+1_2560-1)_(3332+1_3333-1)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000498036" "0" "90" "11" "17432086" "17432086" "subst" "0" "01905" "ABCC8_000283" "g.17432086G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17410539G>A" "" "pathogenic" "" "0000498037" "0" "90" "11" "17432084" "17432088" "del" "0" "01905" "ABCC8_000282" "g.17432084_17432088del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17410537_17410541del" "" "pathogenic" "" "0000498038" "0" "90" "11" "17430028" "17430028" "subst" "0" "01905" "ABCC8_000281" "g.17430028C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17408481C>G" "" "pathogenic" "" "0000498039" "0" "90" "11" "17429947" "17429947" "del" "0" "01905" "ABCC8_000279" "g.17429947del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17408400del" "" "pathogenic" "" "0000498040" "0" "90" "11" "17429938" "17429938" "subst" "0" "01905" "ABCC8_000278" "g.17429938C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17408391C>T" "" "pathogenic" "" "0000498041" "0" "90" "11" "17428955" "17428955" "del" "0" "01905" "ABCC8_000277" "g.17428955del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17407408del" "" "pathogenic" "" "0000498042" "0" "90" "11" "17428908" "17428908" "del" "0" "01905" "ABCC8_000276" "g.17428908del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17407361del" "" "pathogenic" "" "0000498043" "0" "90" "11" "17428903" "17428903" "subst" "0" "01905" "ABCC8_000275" "g.17428903T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17407356T>C" "" "pathogenic" "" "0000498044" "0" "90" "11" "17428677" "17428677" "subst" "4.24997E-6" "01905" "ABCC8_000274" "g.17428677C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17407130C>T" "" "pathogenic" "" "0000498045" "0" "90" "11" "17428433" "17428433" "subst" "0" "01905" "ABCC8_000270" "g.17428433A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406886A>T" "" "pathogenic" "" "0000498046" "0" "90" "11" "17428336" "17428336" "subst" "4.06098E-6" "01905" "ABCC8_000269" "g.17428336C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406789C>T" "" "pathogenic" "" "0000498047" "0" "90" "11" "17428320" "17428320" "subst" "0" "01905" "ABCC8_000268" "g.17428320G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406773G>A" "" "pathogenic" "" "0000498048" "0" "90" "11" "17428264" "17428264" "subst" "0" "01905" "ABCC8_000267" "g.17428264G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406717G>T" "" "pathogenic" "" "0000498049" "0" "90" "11" "17428208" "17428208" "subst" "0" "01905" "ABCC8_000266" "g.17428208T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406661T>C" "" "pathogenic" "" "0000498050" "0" "90" "11" "17428178" "17428178" "dup" "0" "01905" "ABCC8_000265" "g.17428178dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17406631dup" "" "pathogenic" "" "0000498051" "0" "90" "11" "17427043" "17427043" "subst" "0" "01905" "ABCC8_000263" "g.17427043G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17405496G>A" "" "pathogenic" "" "0000498052" "0" "90" "11" "17427042" "17427042" "subst" "8.1211E-6" "01905" "ABCC8_000262" "g.17427042T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17405495T>C" "" "pathogenic" "" "0000498053" "0" "90" "11" "17424207" "17426217" "del" "0" "01905" "ABCC8_000242" "g.(17419989_17424207)_(17426217_17427040)del" "" "De Franco et al 2019, submitted" "" "c.(3402+1_3403-1)_(3653+1_3654-1)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000498054" "0" "90" "11" "17426210" "17426214" "dup" "0" "01905" "ABCC8_000261" "g.17426210_17426214dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404663_17404667dup" "" "pathogenic" "" "0000498055" "0" "90" "11" "17426198" "17426198" "subst" "0" "01905" "ABCC8_000260" "g.17426198C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404651C>A" "" "pathogenic" "" "0000498056" "0" "90" "11" "17426197" "17426197" "subst" "0" "01905" "ABCC8_000259" "g.17426197T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404650T>C" "" "pathogenic" "" "0000498057" "0" "90" "11" "17426169" "17426169" "subst" "4.07173E-6" "01905" "ABCC8_000258" "g.17426169A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404622A>T" "" "pathogenic" "" "0000498058" "0" "90" "11" "17426161" "17426161" "subst" "0" "01905" "ABCC8_000256" "g.17426161G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404614G>A" "" "pathogenic" "" "0000498059" "0" "90" "11" "17426161" "17426161" "subst" "0" "01905" "ABCC8_000257" "g.17426161G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404614G>C" "" "pathogenic" "" "0000498060" "0" "90" "11" "17426076" "17426076" "subst" "0" "01905" "ABCC8_000254" "g.17426076G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404529G>T" "" "pathogenic" "" "0000498061" "0" "90" "11" "17426073" "17426073" "subst" "0" "01905" "ABCC8_000253" "g.17426073G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404526G>T" "" "pathogenic" "" "0000498062" "0" "90" "11" "17426058" "17426058" "subst" "0" "01905" "ABCC8_000252" "g.17426058C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17404511C>T" "" "pathogenic" "" "0000498063" "0" "90" "11" "17424280" "17424280" "subst" "4.06124E-5" "01905" "ABCC8_000250" "g.17424280T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402733T>A" "" "pathogenic" "" "0000498064" "0" "90" "11" "17424266" "17424266" "subst" "0" "01905" "ABCC8_000249" "g.17424266G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402719G>A" "" "pathogenic" "" "0000498065" "0" "90" "11" "17424265" "17424265" "subst" "0" "01905" "ABCC8_000248" "g.17424265G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402718G>T" "" "pathogenic" "" "0000498066" "0" "90" "11" "17424259" "17424263" "del" "0" "01905" "ABCC8_000247" "g.17424259_17424263del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402712_17402716del" "" "pathogenic" "" "0000498067" "0" "90" "11" "17424206" "17424206" "subst" "0" "01905" "ABCC8_000244" "g.17424206A>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17402659A>T" "" "pathogenic" "" "0000498068" "0" "90" "11" "17419279" "17419362" "del" "0" "01905" "ABCC8_000235" "g.17419279_17419362del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397732_17397815del" "" "pathogenic" "" "0000498069" "0" "90" "11" "17419344" "17419344" "subst" "0" "01905" "ABCC8_000239" "g.17419344C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397797C>A" "" "pathogenic" "" "0000498070" "0" "90" "11" "17419301" "17419301" "subst" "0" "01905" "ABCC8_000236" "g.17419301G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397754G>A" "" "pathogenic" "" "0000498071" "0" "90" "11" "17419274" "17419274" "subst" "0" "01905" "ABCC8_000234" "g.17419274A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397727A>G" "" "pathogenic" "" "0000498072" "0" "90" "11" "17419257" "17419258" "dup" "0" "01905" "ABCC8_000233" "g.17419257_17419258dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397710_17397711dup" "" "pathogenic" "" "0000498073" "0" "90" "11" "17419240" "17419240" "subst" "0" "01905" "ABCC8_000232" "g.17419240G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397693G>T" "" "pathogenic" "" "0000498074" "0" "90" "11" "17419231" "17419231" "subst" "0" "01905" "ABCC8_000231" "g.17419231C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397684C>A" "" "pathogenic" "" "0000498075" "0" "90" "11" "17418862" "17418862" "subst" "0" "01905" "ABCC8_000230" "g.17418862T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397315T>C" "" "pathogenic" "" "0000498076" "0" "90" "11" "17418848" "17418848" "subst" "0" "01905" "ABCC8_000229" "g.17418848G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397301G>A" "" "pathogenic" "" "0000498077" "0" "90" "11" "17418761" "17418761" "subst" "0" "01905" "ABCC8_000228" "g.17418761C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397214C>A" "" "pathogenic" "" "0000498078" "0" "90" "11" "17418753" "17418753" "del" "0" "01905" "ABCC8_000227" "g.17418753del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397206del" "" "pathogenic" "" "0000498079" "0" "90" "11" "17418752" "17418752" "subst" "0" "01905" "ABCC8_000226" "g.17418752C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397205C>A" "" "pathogenic" "" "0000498080" "0" "90" "11" "17418739" "17418739" "subst" "0" "01905" "ABCC8_000225" "g.17418739C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397192C>T" "" "pathogenic" "" "0000498081" "0" "90" "11" "17418587" "17418587" "subst" "4.06098E-6" "01905" "ABCC8_000223" "g.17418587G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17397040G>T" "" "pathogenic" "" "0000498082" "0" "90" "11" "17418546" "17418546" "subst" "0" "01905" "ABCC8_000222" "g.17418546T>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17396999T>A" "" "pathogenic" "" "0000498083" "0" "90" "11" "17418524" "17418540" "delins" "0" "01905" "ABCC8_000221" "g.17418524_17418540delinsA" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17396977_17396993delinsA" "" "pathogenic" "" "0000498084" "0" "90" "11" "17417461" "17417461" "subst" "0" "01905" "ABCC8_000219" "g.17417461C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395914C>G" "" "pathogenic" "" "0000498085" "0" "90" "11" "17417458" "17417458" "subst" "0" "01905" "ABCC8_000218" "g.17417458G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395911G>T" "" "pathogenic" "" "0000498086" "0" "90" "11" "17417399" "17417399" "subst" "0" "01905" "ABCC8_000217" "g.17417399C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395852C>A" "" "pathogenic" "" "0000498087" "0" "90" "11" "17417398" "17417398" "subst" "0" "01905" "ABCC8_000216" "g.17417398C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395851C>G" "" "pathogenic" "" "0000498088" "0" "90" "11" "17417266" "17417266" "del" "0" "01905" "ABCC8_000215" "g.17417266del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395719del" "" "pathogenic" "" "0000498089" "0" "90" "11" "17417259" "17417261" "del" "0" "01905" "ABCC8_000214" "g.17417259_17417261del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395712_17395714del" "" "pathogenic" "" "0000498090" "0" "90" "11" "17417200" "17417200" "subst" "0" "01905" "ABCC8_000213" "g.17417200A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395653A>G" "" "pathogenic" "" "0000498092" "0" "90" "11" "17417199" "17417199" "subst" "0" "01905" "ABCC8_000212" "g.17417199G>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395652G>C" "" "pathogenic" "" "0000498093" "0" "90" "11" "17417172" "17417188" "del" "0" "01905" "ABCC8_000208" "g.17417172_17417188del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395625_17395641del" "" "pathogenic" "" "0000498094" "0" "90" "11" "17417175" "17417182" "del" "0" "01905" "ABCC8_000209" "g.17417175_17417182del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395628_17395635del" "" "pathogenic" "" "0000498095" "0" "90" "11" "17417156" "17417156" "subst" "0" "01905" "ABCC8_000207" "g.17417156C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395609C>T" "" "pathogenic" "" "0000498096" "0" "90" "11" "17416823" "17416823" "subst" "0" "01905" "ABCC8_000206" "g.17416823C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395276C>A" "" "pathogenic" "" "0000498097" "0" "90" "11" "17416777" "17416777" "subst" "0" "01905" "ABCC8_000203" "g.17416777C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17395230C>G" "" "pathogenic" "" "0000498098" "0" "90" "11" "17414537" "17415947" "del" "0" "01905" "ABCC8_000176" "g.(?_17414537)_(17415947_17416718)del" "" "De Franco et al 2019, submitted" "" "c.(4414+1_4415-1)_(*4749+34)del" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000498099" "0" "90" "11" "17415907" "17415907" "subst" "0" "01905" "ABCC8_000200" "g.17415907C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394360C>A" "" "pathogenic" "" "0000498100" "0" "90" "11" "17415905" "17415905" "subst" "4.06085E-6" "01905" "ABCC8_000199" "g.17415905G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394358G>A" "" "pathogenic" "" "0000498101" "0" "90" "11" "17415898" "17415898" "subst" "0" "01905" "ABCC8_000198" "g.17415898T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394351T>C" "" "pathogenic" "" "0000498102" "0" "90" "11" "17415890" "17415890" "del" "0" "01905" "ABCC8_000197" "g.17415890del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394343del" "" "pathogenic" "" "0000498103" "0" "90" "11" "17415847" "17415847" "subst" "1.21867E-5" "01905" "ABCC8_000193" "g.17415847A>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394300A>G" "" "pathogenic" "" "0000498104" "0" "90" "11" "17415845" "17415845" "subst" "0" "01905" "ABCC8_000192" "g.17415845C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394298C>T" "" "pathogenic" "" "0000498105" "0" "90" "11" "17415825" "17415845" "dup" "0" "01905" "ABCC8_000191" "g.17415825_17415845dup" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394278_17394298dup" "" "pathogenic" "" "0000498106" "0" "90" "11" "17415812" "17415812" "subst" "0" "01905" "ABCC8_000190" "g.17415812C>G" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17394265C>G" "" "pathogenic" "" "0000498107" "0" "90" "11" "17415240" "17415240" "subst" "0" "01905" "ABCC8_000187" "g.17415240T>C" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393693T>C" "" "pathogenic" "" "0000498108" "0" "90" "11" "17414676" "17414676" "subst" "0" "01905" "ABCC8_000186" "g.17414676C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393129C>A" "" "pathogenic" "" "0000498109" "0" "90" "11" "17414672" "17414672" "subst" "0" "01905" "ABCC8_000185" "g.17414672G>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393125G>A" "" "pathogenic" "" "0000498110" "0" "90" "11" "17414669" "17414669" "subst" "0" "01905" "ABCC8_000184" "g.17414669C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393122C>T" "" "pathogenic" "" "0000498111" "0" "90" "11" "17414626" "17414626" "subst" "0" "01905" "ABCC8_000183" "g.17414626C>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393079C>T" "" "pathogenic" "" "0000498112" "0" "90" "11" "17414612" "17414612" "subst" "0" "01905" "ABCC8_000182" "g.17414612C>A" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393065C>A" "" "pathogenic" "" "0000498113" "0" "90" "11" "17414571" "17414571" "subst" "0" "01905" "ABCC8_000181" "g.17414571G>T" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393024G>T" "" "pathogenic" "" "0000498114" "0" "90" "11" "17414553" "17414556" "del" "0" "01905" "ABCC8_000178" "g.17414553_17414556del" "" "De Franco et al 2019, submitted" "" "" "" "Germline" "" "" "0" "" "" "g.17393006_17393009del" "" "pathogenic" "" "0000543112" "0" "50" "11" "17409547" "17409547" "subst" "4.06984E-6" "01804" "ABCC8_000412" "g.17409547C>A" "" "" "" "KCNJ11(NM_000525.3):c.92G>T (p.(Arg31Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17388000C>A" "" "VUS" "" "0000543114" "0" "50" "11" "17414555" "17414555" "subst" "1.62504E-5" "01804" "ABCC8_000414" "g.17414555C>T" "" "" "" "ABCC8(NM_000352.3):c.4729G>A (p.(Val1577Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393008C>T" "" "VUS" "" "0000543115" "0" "30" "11" "17414565" "17414565" "subst" "7.71881E-5" "01804" "ABCC8_000415" "g.17414565G>A" "" "" "" "ABCC8(NM_000352.3):c.4719C>T (p.(Phe1573=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393018G>A" "" "likely benign" "" "0000543117" "0" "30" "11" "17414581" "17414581" "subst" "0.000788028" "01804" "ABCC8_000417" "g.17414581C>T" "" "" "" "ABCC8(NM_000352.3):c.4703G>A (p.(Arg1568Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393034C>T" "" "likely benign" "" "0000543119" "0" "50" "11" "17414660" "17414660" "subst" "0" "01804" "ABCC8_000419" "g.17414660T>A" "" "" "" "ABCC8(NM_000352.3):c.4624A>T (p.(Ile1542Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393113T>A" "" "VUS" "" "0000543120" "0" "30" "11" "17414687" "17414687" "subst" "0" "01804" "ABCC8_000420" "g.17414687A>T" "" "" "" "ABCC8(NM_000352.3):c.4609-12T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393140A>T" "" "likely benign" "" "0000543121" "0" "30" "11" "17414690" "17414690" "subst" "0" "01804" "ABCC8_000421" "g.17414690A>T" "" "" "" "ABCC8(NM_000352.3):c.4609-15T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393143A>T" "" "likely benign" "" "0000543124" "0" "30" "11" "17415289" "17415289" "subst" "0.000316726" "01804" "ABCC8_000424" "g.17415289C>A" "" "" "" "ABCC8(NM_000352.3):c.4563G>T (p.(Lys1521Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17393742C>A" "" "likely benign" "" "0000543125" "0" "50" "11" "17415814" "17415814" "subst" "4.06656E-6" "01804" "ABCC8_000425" "g.17415814G>A" "" "" "" "ABCC8(NM_000352.3):c.4544C>T (p.(Thr1515Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17394267G>A" "" "VUS" "" "0000543126" "0" "30" "11" "17415873" "17415873" "subst" "2.03077E-5" "01804" "ABCC8_000426" "g.17415873G>A" "" "" "" "ABCC8(NM_000352.3):c.4485C>T (p.(Phe1495=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17394326G>A" "" "likely benign" "" "0000543130" "0" "30" "11" "17417225" "17417225" "subst" "5.56648E-5" "01804" "ABCC8_000429" "g.17417225C>A" "" "" "" "ABCC8(NM_000352.3):c.4239G>T (p.(Pro1413=)), ABCC8(NM_001351295.1):c.4305G>T (p.P1435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17395678C>A" "" "likely benign" "" "0000543135" "0" "30" "11" "17418445" "17418445" "subst" "0.00235086" "01804" "ABCC8_000434" "g.17418445T>C" "" "" "" "ABCC8(NM_000352.3):c.4119+18A>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17396898T>C" "" "likely benign" "" "0000543138" "0" "30" "11" "17419224" "17419224" "subst" "0.000318809" "01804" "ABCC8_000116" "g.17419224C>T" "" "" "" "ABCC8(NM_000352.3):c.3867+7G>A (p.(=)), ABCC8(NM_001287174.1):c.3870+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17397677C>T" "" "likely benign" "" "0000543140" "0" "70" "11" "17419323" "17419323" "subst" "5.70558E-5" "01804" "ABCC8_000237" "g.17419323C>T" "" "" "" "ABCC8(NM_000352.3):c.3775G>A (p.(Val1259Met)), ABCC8(NM_000352.6):c.3775G>A (p.V1259M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17397776C>T" "" "likely pathogenic" "" "0000543142" "0" "90" "11" "17426072" "17426072" "subst" "0" "01804" "ABCC8_000437" "g.17426072G>A" "" "" "" "ABCC8(NM_000352.3):c.3544C>T (p.(Arg1182Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17404525G>A" "" "pathogenic" "" "0000543143" "0" "50" "11" "17426099" "17426099" "subst" "1.21829E-5" "02327" "ABCC8_000120" "g.17426099C>T" "" "" "" "ABCC8(NM_000352.6):c.3517G>A (p.V1173M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17404552C>T" "" "VUS" "" "0000543144" "0" "50" "11" "17426143" "17426143" "subst" "0" "01804" "ABCC8_000438" "g.17426143T>C" "" "" "" "ABCC8(NM_000352.3):c.3473A>G (p.(Tyr1158Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17404596T>C" "" "VUS" "" "0000543146" "0" "30" "11" "17427029" "17427029" "subst" "0.000166485" "01804" "ABCC8_000440" "g.17427029G>A" "" "" "" "ABCC8(NM_000352.3):c.3399+12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17405482G>A" "" "likely benign" "" "0000543147" "0" "30" "11" "17428206" "17428206" "subst" "2.43883E-5" "01804" "ABCC8_000441" "g.17428206G>A" "" "" "" "ABCC8(NM_000352.3):c.3292C>T (p.(Arg1098Cys)), ABCC8(NM_000352.6):c.3292C>T (p.R1098C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17406659G>A" "" "likely benign" "" "0000543148" "0" "30" "11" "17428443" "17428443" "subst" "4.06851E-6" "01804" "ABCC8_000442" "g.17428443G>A" "" "" "" "ABCC8(NM_000352.3):c.3154C>T (p.(Leu1052Phe)), ABCC8(NM_001351295.2):c.3220C>T (p.L1074F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17406896G>A" "" "likely benign" "" "0000543149" "0" "50" "11" "17428509" "17428509" "subst" "0" "02327" "ABCC8_000443" "g.17428509C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17406962C>T" "" "VUS" "" "0000543150" "0" "30" "11" "17428617" "17428617" "subst" "1.23726E-5" "01804" "ABCC8_000444" "g.17428617C>T" "" "" "" "ABCC8(NM_000352.3):c.2980G>A (p.(Glu994Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17407070C>T" "" "likely benign" "" "0000543151" "0" "90" "11" "17428964" "17428964" "subst" "1.62425E-5" "01804" "ABCC8_000445" "g.17428964G>A" "" "" "" "ABCC8(NM_000352.3):c.2857C>T (p.(Gln953*)), ABCC8(NM_000352.6):c.2857C>T (p.Q953*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17407417G>A" "" "pathogenic" "" "0000543153" "0" "10" "11" "17430084" "17430084" "subst" "0.000333064" "01804" "ABCC8_000446" "g.17430084C>T" "" "" "" "ABCC8(NM_000352.3):c.2695-20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17408537C>T" "" "benign" "" "0000543154" "0" "30" "11" "17432147" "17432147" "subst" "0.000605066" "01804" "ABCC8_000447" "g.17432147G>A" "" "" "" "ABCC8(NM_000352.3):c.2610C>T (p.(Ala870=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17410600G>A" "" "likely benign" "" "0000543155" "0" "30" "11" "17434279" "17434279" "subst" "0" "01804" "ABCC8_000448" "g.17434279A>G" "" "" "" "ABCC8(NM_000352.3):c.2490T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17412732A>G" "" "likely benign" "" "0000543159" "0" "30" "11" "17436042" "17436042" "subst" "0.000860865" "01804" "ABCC8_000452" "g.17436042C>G" "" "" "" "ABCC8(NM_000352.3):c.2390+17G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17414495C>G" "" "likely benign" "" "0000543162" "0" "30" "11" "17436843" "17436843" "subst" "1.71019E-5" "01804" "ABCC8_000455" "g.17436843C>T" "" "" "" "ABCC8(NM_000352.3):c.2291+8G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17415296C>T" "" "likely benign" "" "0000543164" "0" "30" "11" "17438482" "17438482" "subst" "0" "01804" "ABCC8_000457" "g.17438482G>T" "" "" "" "ABCC8(NM_000352.3):c.2250C>A (p.(Asp750Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17416935G>T" "" "likely benign" "" "0000543166" "0" "30" "11" "17448642" "17448642" "subst" "0.000455207" "01804" "ABCC8_000459" "g.17448642C>T" "" "" "" "ABCC8(NM_000352.3):c.2176G>A (p.(Ala726Thr)), ABCC8(NM_000352.6):c.2176G>A (p.A726T), ABCC8(NM_001351295.1):c.2242G>A (p.A748T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17427095C>T" "" "likely benign" "" "0000543169" "0" "30" "11" "17449501" "17449501" "subst" "0.000490714" "01804" "ABCC8_000462" "g.17449501G>A" "" "" "" "ABCC8(NM_000352.3):c.2041-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17427954G>A" "" "likely benign" "" "0000543170" "0" "50" "11" "17449918" "17449918" "subst" "0.000622118" "01804" "ABCC8_000463" "g.17449918C>T" "" "" "" "ABCC8(NM_000352.3):c.1958G>A (p.(Arg653Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428371C>T" "" "VUS" "" "0000543172" "0" "30" "11" "17450102" "17450102" "subst" "2.03714E-5" "01804" "ABCC8_000465" "g.17450102G>A" "" "" "" "ABCC8(NM_000352.3):c.1923+10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428555G>A" "" "likely benign" "" "0000543173" "0" "30" "11" "17450109" "17450109" "subst" "6.10486E-5" "01804" "ABCC8_000466" "g.17450109C>T" "" "" "" "ABCC8(NM_000352.3):c.1923+3G>A (p.?), ABCC8(NM_000352.6):c.1923+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428562C>T" "" "likely benign" "" "0000543175" "0" "30" "11" "17450161" "17450161" "subst" "0.000134173" "01804" "ABCC8_000468" "g.17450161G>A" "" "" "" "ABCC8(NM_000352.3):c.1874C>T (p.(Ala625Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428614G>A" "" "likely benign" "" "0000543176" "0" "30" "11" "17450223" "17450223" "subst" "0.000106506" "01804" "ABCC8_000469" "g.17450223C>T" "" "" "" "ABCC8(NM_000352.3):c.1818-6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428676C>T" "" "likely benign" "" "0000543177" "0" "30" "11" "17450232" "17450232" "subst" "4.11401E-6" "01804" "ABCC8_000470" "g.17450232C>G" "" "" "" "ABCC8(NM_000352.3):c.1818-15G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428685C>G" "" "likely benign" "" "0000543180" "0" "30" "11" "17452512" "17452512" "subst" "0" "01804" "ABCC8_000472" "g.17452512G>T" "" "" "" "ABCC8(NM_000352.3):c.1672-6C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17430965G>T" "" "likely benign" "" "0000543183" "0" "50" "11" "17464386" "17464386" "subst" "2.4418E-5" "01804" "ABCC8_000475" "g.17464386C>T" "" "" "" "ABCC8(NM_000352.3):c.1511G>A (p.(Arg504His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17442839C>T" "" "VUS" "" "0000543187" "0" "50" "11" "17474779" "17474779" "subst" "0.000458909" "01804" "ABCC8_000151" "g.17474779C>T" "" "" "" "ABCC8(NM_000352.3):c.1063G>A (p.(Ala355Thr)), ABCC8(NM_000352.6):c.1063G>A (p.A355T), ABCC8(NM_001287174.1):c.1063G>A (p.A355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17453232C>T" "" "VUS" "" "0000543189" "0" "70" "11" "17482108" "17482108" "subst" "0" "01804" "ABCC8_000478" "g.17482108C>T" "" "" "" "ABCC8(NM_000352.3):c.938G>A (p.(Gly313Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17460561C>T" "" "likely pathogenic" "" "0000543190" "0" "30" "11" "17483159" "17483159" "subst" "0" "01804" "ABCC8_000479" "g.17483159G>T" "" "" "" "ABCC8(NM_000352.3):c.793C>A (p.(Arg265=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17461612G>T" "" "likely benign" "" "0000543191" "0" "50" "11" "17483192" "17483192" "subst" "0" "01804" "ABCC8_000480" "g.17483192G>T" "" "" "" "ABCC8(NM_000352.3):c.760C>A (p.(Pro254Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17461645G>T" "" "VUS" "" "0000543192" "0" "30" "11" "17483202" "17483202" "subst" "1.21827E-5" "01804" "ABCC8_000481" "g.17483202G>A" "" "" "" "ABCC8(NM_000352.3):c.750C>T (p.(Ile250=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17461655G>A" "" "likely benign" "" "0000543194" "0" "90" "11" "17483297" "17483297" "subst" "0" "02329" "ABCC8_000483" "g.17483297G>A" "" "" "" "ABCC8(NM_001287174.3):c.655C>T (p.Q219*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17461750G>A" "" "pathogenic" "" "0000543195" "0" "50" "11" "17483336" "17483336" "subst" "0" "01804" "ABCC8_000484" "g.17483336G>A" "" "" "" "ABCC8(NM_000352.3):c.616C>T (p.(Pro206Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17461789G>A" "" "VUS" "" "0000543197" "0" "50" "11" "17485047" "17485047" "subst" "0" "01804" "ABCC8_000485" "g.17485047C>T" "" "" "" "ABCC8(NM_000352.3):c.517G>A (p.(Gly173Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17463500C>T" "" "VUS" "" "0000543198" "0" "50" "11" "17485062" "17485062" "subst" "0" "02327" "ABCC8_000486" "g.17485062G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17463515G>A" "" "VUS" "" "0000543201" "0" "10" "11" "17491730" "17491730" "subst" "0.0447768" "01804" "ABCC8_000488" "g.17491730G>A" "" "" "" "ABCC8(NM_000352.3):c.330C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17470183G>A" "" "benign" "" "0000543204" "0" "30" "11" "17496461" "17496461" "subst" "0" "01804" "ABCC8_000491" "g.17496461C>T" "" "" "" "ABCC8(NM_000352.3):c.262G>A (p.(Glu88Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17474914C>T" "" "likely benign" "" "0000543206" "0" "50" "11" "17498233" "17498233" "subst" "8.35666E-6" "02327" "ABCC8_000492" "g.17498233G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17476686G>A" "" "VUS" "" "0000613199" "0" "30" "11" "17409453" "17409453" "subst" "1.62832E-5" "02327" "ABCC8_000493" "g.17409453C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17387906C>T" "" "likely benign" "" "0000613200" "0" "50" "11" "17409572" "17409572" "subst" "0.638793" "02327" "KCNJ11_000017" "g.17409572T>C" "" "" "" "KCNJ11(NM_000525.4):c.67A>G (p.K23E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17388025T>C" "" "VUS" "" "0000613201" "0" "50" "11" "17418477" "17418477" "subst" "0.634153" "02327" "ABCC8_000112" "g.17418477C>A" "" "" "" "ABCC8(NM_000352.6):c.4105G>T (p.A1369S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17396930C>A" "" "VUS" "" "0000613202" "0" "10" "11" "17429922" "17429922" "subst" "0.614883" "02327" "ABCC8_000127" "g.17429922T>C" "" "" "" "ABCC8(NM_000352.6):c.2820+17A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17408375T>C" "" "benign" "" "0000613203" "0" "30" "11" "17438465" "17438465" "subst" "1.62608E-5" "01804" "ABCC8_000494" "g.17438465C>T" "" "" "" "ABCC8(NM_000352.3):c.2255+12G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17416918C>T" "" "likely benign" "" "0000613204" "0" "50" "11" "17448704" "17448704" "subst" "0.440407" "02327" "ABCC8_000461" "g.17448704G>A" "" "" "" "ABCC8(NM_000352.6):c.2117-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17427157G>A" "" "VUS" "" "0000613205" "0" "10" "11" "17484971" "17484971" "subst" "0.387612" "02327" "ABCC8_000160" "g.17484971G>A" "" "" "" "ABCC8(NM_000352.6):c.579+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17463424G>A" "" "benign" "" "0000613206" "0" "10" "11" "17496516" "17496516" "subst" "0.475101" "02327" "ABCC8_000166" "g.17496516A>G" "" "" "" "ABCC8(NM_000352.6):c.207T>C (p.P69=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17474969A>G" "" "benign" "" "0000648167" "1" "70" "11" "17415288" "17415288" "subst" "0" "03575" "ABCC8_000495" "g.17415288C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs193922407}" "Germline" "" "rs193922407" "0" "" "" "g.17393741C>T" "" "likely pathogenic" "" "0000648168" "1" "90" "11" "17426072" "17426072" "subst" "0" "03575" "ABCC8_000437" "g.17426072G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs797045209}" "Germline" "" "rs797045209" "0" "" "" "g.17404525G>A" "" "pathogenic" "" "0000648169" "1" "30" "11" "17436865" "17436865" "subst" "0.0272879" "03575" "ABCC8_000133" "g.17436865G>A" "56/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "56 heterozygous, no homozygous; {DB:CLININrs1801261}" "Germline" "" "rs1801261" "0" "" "" "g.17415318G>A" "" "likely benign" "" "0000648171" "1" "30" "11" "17449470" "17449470" "subst" "0.000195507" "03575" "ABCC8_000496" "g.17449470G>A" "1/2792 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs150316347}" "Germline" "" "rs150316347" "0" "" "" "g.17427923G>A" "" "likely benign" "" "0000648172" "1" "50" "11" "17450177" "17450177" "subst" "0.000630286" "03575" "ABCC8_000141" "g.17450177G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs58241708}" "Germline" "" "rs58241708" "0" "" "" "g.17428630G>A" "" "VUS" "" "0000648173" "1" "70" "11" "17491729" "17491729" "subst" "8.12341E-6" "03575" "ABCC8_000497" "g.17491729C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs761749884}" "Germline" "" "rs761749884" "0" "" "" "g.17470182C>T" "" "likely pathogenic" "" "0000653538" "0" "50" "11" "17415872" "17415872" "subst" "1.21854E-5" "01164" "ABCC8_000195" "g.17415872C>T" "" "" "" "" "" "Germline" "" "rs377696470" "0" "" "" "g.17394325C>T" "" "VUS" "ACMG" "0000656744" "0" "50" "11" "17419279" "17419279" "subst" "0.290645" "02327" "ABCC8_000117" "g.17419279C>T" "" "" "" "ABCC8(NM_000352.6):c.3819G>A (p.R1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17397732C>T" "" "VUS" "" "0000656745" "0" "50" "11" "17450116" "17450116" "subst" "0.000105789" "02325" "ABCC8_000140" "g.17450116G>A" "" "" "" "ABCC8(NM_000352.3):c.1919C>T (p.(Ala640Val)), ABCC8(NM_000352.6):c.1919C>T (p.A640V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17428569G>A" "" "VUS" "" "0000656746" "0" "10" "11" "17452492" "17452492" "subst" "0.421789" "02327" "ABCC8_000143" "g.17452492G>A" "" "" "" "ABCC8(NM_000352.6):c.1686C>T (p.H562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.17430945G>A" "" "benign" "" "0000673554" "11" "70" "11" "17453749" "17453749" "subst" "0" "03695" "ABCC8_000501" "g.17453749A>G" "" "" "" "" "" "Unknown" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673569" "2" "70" "11" "17436101" "17436101" "subst" "0" "03695" "ABCC8_000500" "g.17436101A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673570" "2" "70" "11" "17428471" "17428473" "delins" "0" "03695" "ABCC8_000498" "g.17428471_17428473delinsCAGTTCCTGGCTG" "" "" "" "3124_3126delACCinsCAGCCAGGAACTG" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000673571" "2" "70" "11" "17415959" "17415959" "subst" "4.06118E-6" "03695" "ABCC8_000428" "g.17415959C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic" "" "0000673572" "2" "90" "11" "17428605" "17428605" "subst" "0" "03695" "ABCC8_000499" "g.17428605G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673932" "2" "90" "11" "17434214" "17434216" "del" "0" "03695" "ABCC8_000503" "g.17434214_17434216del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000673933" "2" "90" "11" "17482222" "17482222" "subst" "0.000246781" "03695" "ABCC8_000505" "g.17482222C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673949" "2" "90" "11" "17434940" "17434940" "subst" "4.06065E-6" "03695" "ABCC8_000504" "g.17434940C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "pathogenic" "" "0000673950" "2" "90" "11" "17415895" "17415898" "dup" "0" "03695" "ABCC8_000502" "g.17415895_17415898dup" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000690999" "0" "70" "11" "17415881" "17415881" "subst" "1.62466E-5" "02327" "ABCC8_000507" "g.17415881G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691000" "0" "50" "11" "17428295" "17428295" "subst" "0.000219295" "02325" "ABCC8_000508" "g.17428295G>A" "" "" "" "ABCC8(NM_000352.3):c.3203C>T (p.(Thr1068Met)), ABCC8(NM_000352.6):c.3203C>T (p.T1068M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000691001" "0" "70" "11" "17428964" "17428964" "subst" "1.62425E-5" "02327" "ABCC8_000445" "g.17428964G>A" "" "" "" "ABCC8(NM_000352.3):c.2857C>T (p.(Gln953*)), ABCC8(NM_000352.6):c.2857C>T (p.Q953*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000691002" "0" "30" "11" "17448642" "17448642" "subst" "0.000455207" "02325" "ABCC8_000459" "g.17448642C>T" "" "" "" "ABCC8(NM_000352.3):c.2176G>A (p.(Ala726Thr)), ABCC8(NM_000352.6):c.2176G>A (p.A726T), ABCC8(NM_001351295.1):c.2242G>A (p.A748T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691003" "0" "10" "11" "17466045" "17466045" "subst" "0" "02327" "ABCC8_000509" "g.17466045A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000704534" "21" "30" "11" "17470059" "17470059" "del" "0.000982893" "03946" "ABCC8_000148" "g.17470059del" "" "" "" "" "alternate (paternal) allele carrying probably pathogenic variant" "Germline" "" "" "0" "" "" "" "" "likely benign" "ACMG" "0000704535" "11" "70" "11" "17449479" "17449479" "subst" "0" "03946" "ABCC8_000510" "g.17449479C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704536" "21" "90" "11" "17464719" "17464719" "subst" "0" "03946" "ABCC8_000342" "g.17464719A>C" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704537" "11" "50" "11" "17414552" "17414555" "del" "0" "03946" "ABCC8_000178" "g.17414552_17414555del" "" "" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "ACMG" "0000704540" "0" "70" "11" "17450107" "17450107" "subst" "0" "03946" "ABCC8_000511" "g.17450107C>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704546" "11" "30" "11" "17449501" "17449501" "subst" "0.000490714" "03946" "ABCC8_000462" "g.17449501G>A" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely benign" "ACMG" "0000704551" "11" "70" "11" "17428685" "17428685" "subst" "2.59186E-5" "03946" "ABCC8_000512" "g.17428685C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704552" "21" "70" "11" "17414561" "17414561" "subst" "0" "03946" "ABCC8_000180" "g.17414561A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704554" "11" "70" "11" "17428685" "17428685" "subst" "2.59186E-5" "03946" "ABCC8_000512" "g.17428685C>T" "" "" "" "NM_001287174.1(ABCC8):c.2924-9G>A" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704557" "21" "70" "11" "17419887" "17419888" "del" "0" "03946" "ABCC8_000513" "g.17419887_17419888del" "" "" "" "NM_001287174.1(ABCC8):c.3754_3755del" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000704558" "11" "70" "11" "17418728" "17418741" "del" "0" "03946" "ABCC8_000514" "g.17418728_17418741del" "" "" "" "NM_001287174.1(ABCC8):c.3991+2_3991+15del" "" "Germline" "" "" "0" "" "" "g.17397181_17397194del" "" "likely pathogenic (recessive)" "ACMG" "0000704561" "11" "90" "11" "17432169" "17432172" "del" "0" "03946" "ABCC8_000515" "g.17432169_17432172del" "" "" "" "NM_001287174.1(ABCC8):c.2588_2591del" "" "Germline" "" "" "" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000704562" "21" "70" "11" "17418596" "17418596" "subst" "0" "03946" "ABCC8_000516" "g.17418596G>C" "" "" "" "NM_001287174.1(ABCC8):c.3992-3C>G" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704567" "21" "70" "11" "17430028" "17430028" "subst" "0" "03946" "ABCC8_000281" "g.17430028C>G" "" "" "" "NM_001287174.1(ABCC8):c.2734G>C" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704570" "11" "70" "11" "17415959" "17415959" "subst" "4.06118E-6" "03946" "ABCC8_000428" "g.17415959C>T" "" "" "" "NM_001287174.1(ABCC8):c.4415-13G>A" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000704574" "11" "70" "11" "17415244" "17415244" "subst" "0" "03946" "ABCC8_000517" "g.17415244C>T" "" "" "" "NM_001287174.1(ABCC8):c.4611G>A" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000723322" "0" "50" "11" "17415244" "17415244" "subst" "0" "02329" "ABCC8_000517" "g.17415244C>T" "" "" "" "ABCC8(NM_000352.3):c.4608G>A (p.(=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723323" "0" "70" "11" "17415959" "17415959" "subst" "4.06118E-6" "02329" "ABCC8_000428" "g.17415959C>T" "" "" "" "ABCC8(NM_001287174.3):c.4415-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723324" "0" "50" "11" "17418531" "17418531" "subst" "0" "02329" "ABCC8_000518" "g.17418531C>T" "" "" "" "ABCC8(NM_000352.6):c.4051G>A (p.(Val1351Met)), ABCC8(NM_001351295.2):c.4117G>A (p.V1373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723325" "0" "30" "11" "17419981" "17419981" "subst" "4.06161E-6" "01943" "ABCC8_000519" "g.17419981C>T" "" "" "" "ABCC8(NM_001351295.1):c.3724G>A (p.A1242T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723326" "0" "50" "11" "17428206" "17428206" "subst" "2.43883E-5" "02325" "ABCC8_000441" "g.17428206G>A" "" "" "" "ABCC8(NM_000352.3):c.3292C>T (p.(Arg1098Cys)), ABCC8(NM_000352.6):c.3292C>T (p.R1098C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723327" "0" "30" "11" "17428510" "17428510" "subst" "1.22089E-5" "01943" "ABCC8_000520" "g.17428510G>T" "" "" "" "ABCC8(NM_001351295.1):c.3153C>A (p.I1051=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000723328" "0" "50" "11" "17428668" "17428668" "subst" "9.67623E-5" "01943" "ABCC8_000521" "g.17428668C>T" "" "" "" "ABCC8(NM_000352.3):c.2929G>A (p.(Ala977Thr)), ABCC8(NM_000352.6):c.2929G>A (p.A977T), ABCC8(NM_001351295.1):c.2995G>A (p.A999T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723330" "0" "70" "11" "17448674" "17448674" "subst" "0" "02329" "ABCC8_000460" "g.17448674A>G" "" "" "" "ABCC8(NM_001287174.3):c.2144T>C (p.V715A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000723331" "0" "90" "11" "17464854" "17464855" "dup" "0" "02329" "ABCC8_000344" "g.17464854_17464855dup" "" "" "" "ABCC8(NM_001287174.3):c.1337_1338dupTT (p.V447Lfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723332" "0" "50" "11" "17474779" "17474779" "subst" "0.000458909" "02325" "ABCC8_000151" "g.17474779C>T" "" "" "" "ABCC8(NM_000352.3):c.1063G>A (p.(Ala355Thr)), ABCC8(NM_000352.6):c.1063G>A (p.A355T), ABCC8(NM_001287174.1):c.1063G>A (p.A355T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000723333" "0" "30" "11" "17482227" "17482227" "subst" "0" "02325" "ABCC8_000154" "g.17482227C>T" "" "" "" "ABCC8(NM_000352.6):c.823-4G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000765234" "3" "90" "11" "17434212" "17553090" "del" "0" "00000" "USH1C_000212" "g.(17432201_17434212)_(17553090_17554801)del" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex3-27" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000765235" "3" "90" "11" "0" "0" "" "0" "00000" "USH1C_000212" "g.(?_g.17436861)_(17546526_?)del" "" "{PMID:Neuhaus 2017:28944237}" "" "del ex3-27" "123kb deletion incl. ABCC8 and USH1C" "Germline" "" "" "0" "" "" "17439772_17546526del" "" "pathogenic" "" "0000787185" "0" "50" "11" "17452393" "17452393" "subst" "8.12269E-6" "00006" "ABCC8_000523" "g.17452393A>T" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "rs983621605" "0" "" "" "g.17430846A>T" "" "VUS" "" "0000805030" "0" "50" "11" "17426099" "17426099" "subst" "1.21829E-5" "02325" "ABCC8_000120" "g.17426099C>T" "" "" "" "ABCC8(NM_000352.6):c.3517G>A (p.V1173M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805031" "0" "50" "11" "17449969" "17449969" "subst" "0.000935916" "02325" "ABCC8_000138" "g.17449969G>A" "" "" "" "ABCC8(NM_000352.3):c.1924-17C>T (p.(=)), ABCC8(NM_000352.6):c.1924-17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805032" "0" "30" "11" "17450177" "17450177" "subst" "0.000630286" "02325" "ABCC8_000141" "g.17450177G>A" "" "" "" "ABCC8(NM_000352.3):c.1858C>T (p.(Arg620Cys)), ABCC8(NM_000352.6):c.1858C>T (p.R620C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805033" "0" "50" "11" "17464281" "17464281" "subst" "8.12988E-6" "01943" "ABCC8_000524" "g.17464281T>C" "" "" "" "ABCC8(NM_001287174.1):c.1616A>G (p.(Tyr539Cys)), ABCC8(NM_001351295.1):c.1616A>G (p.Y539C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000805034" "0" "30" "11" "17464735" "17464735" "subst" "2.84456E-5" "01943" "ABCC8_000525" "g.17464735C>T" "" "" "" "ABCC8(NM_000352.3):c.1457G>A (p.(Arg486Gln)), ABCC8(NM_001351295.1):c.1457G>A (p.R486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000821027" "0" "70" "11" "17474773" "17474773" "subst" "3.65506E-5" "00006" "ABCC8_000358" "g.17474773C>T" "" "{PMID:Gelinas 2020:33187088}" "" "" "parents not available" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000852838" "0" "50" "11" "17415860" "17415860" "subst" "0" "02329" "ABCC8_000534" "g.17415860T>C" "" "" "" "ABCC8(NM_001351295.2):c.4564A>G (p.S1522G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852839" "0" "50" "11" "17424284" "17424284" "subst" "4.06141E-6" "02325" "ABCC8_000542" "g.17424284C>G" "" "" "" "ABCC8(NM_000352.6):c.3574G>C (p.D1192H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852840" "0" "10" "11" "17436191" "17436191" "subst" "0.207232" "02327" "ABCC8_000453" "g.17436191A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000852841" "0" "30" "11" "17436193" "17436193" "subst" "0.193235" "02327" "ABCC8_000454" "g.17436193G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000852842" "0" "50" "11" "17448642" "17448642" "subst" "0.000455207" "01943" "ABCC8_000459" "g.17448642C>T" "" "" "" "ABCC8(NM_000352.3):c.2176G>A (p.(Ala726Thr)), ABCC8(NM_000352.6):c.2176G>A (p.A726T), ABCC8(NM_001351295.1):c.2242G>A (p.A748T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000852843" "0" "30" "11" "17482154" "17482154" "subst" "0.000212446" "01943" "ABCC8_000570" "g.17482154G>A" "" "" "" "ABCC8(NM_001351295.1):c.892C>T (p.R298C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862395" "0" "50" "11" "17409509" "17409509" "subst" "8.12856E-6" "01804" "KCNJ11_000094" "g.17409509C>T" "" "" "" "KCNJ11(NM_000525.3):c.130G>A (p.(Val44Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862396" "0" "30" "11" "17409602" "17409602" "subst" "0.000298237" "01804" "ABCC8_000527" "g.17409602C>T" "" "" "" "KCNJ11(NM_000525.3):c.37G>A (p.(Val13Met)), KCNJ11(NM_000525.4):c.37G>A (p.V13M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862397" "0" "50" "11" "17409624" "17409624" "subst" "0" "01804" "ABCC8_000528" "g.17409624C>G" "" "" "" "KCNJ11(NM_000525.3):c.15G>C (p.(Lys5Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862398" "0" "50" "11" "17409628" "17409628" "subst" "8.20782E-6" "01804" "KCNJ11_000101" "g.17409628C>T" "" "" "" "KCNJ11(NM_000525.3):c.11G>A (p.(Arg4His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862399" "0" "30" "11" "17414637" "17414637" "subst" "7.3144E-5" "01804" "ABCC8_000529" "g.17414637G>A" "" "" "" "ABCC8(NM_000352.3):c.4647C>T (p.(Ile1549=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862400" "0" "10" "11" "17414682" "17414682" "subst" "0" "01804" "ABCC8_000530" "g.17414682A>T" "" "" "" "ABCC8(NM_000352.3):c.4609-7T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862401" "0" "70" "11" "17415244" "17415244" "subst" "0" "01804" "ABCC8_000517" "g.17415244C>T" "" "" "" "ABCC8(NM_000352.3):c.4608G>A (p.(=)), ABCC8(NM_001351295.2):c.4674G>A (p.A1558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862402" "0" "30" "11" "17415799" "17415799" "subst" "0" "01804" "ABCC8_000531" "g.17415799G>A" "" "" "" "ABCC8(NM_000352.3):c.4545+14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862403" "0" "30" "11" "17415800" "17415800" "subst" "0.000537512" "01804" "ABCC8_000532" "g.17415800G>A" "" "" "" "ABCC8(NM_000352.3):c.4545+13C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862404" "0" "30" "11" "17415843" "17415843" "subst" "2.43772E-5" "01804" "ABCC8_000533" "g.17415843G>A" "" "" "" "ABCC8(NM_000352.3):c.4515C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862405" "0" "30" "11" "17416710" "17416710" "subst" "0" "01804" "ABCC8_000535" "g.17416710A>G" "" "" "" "ABCC8(NM_000352.3):c.4411+9T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862406" "0" "30" "11" "17416762" "17416762" "subst" "0.000200644" "01804" "ABCC8_000536" "g.17416762G>A" "" "" "" "ABCC8(NM_000352.3):c.4368C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862407" "0" "70" "11" "17416779" "17416779" "subst" "0" "01804" "ABCC8_000170" "g.17416779A>G" "" "" "" "ABCC8(NM_000352.3):c.4351T>C (p.(Trp1451Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862408" "0" "30" "11" "17417225" "17417225" "subst" "5.56648E-5" "01943" "ABCC8_000429" "g.17417225C>A" "" "" "" "ABCC8(NM_000352.3):c.4239G>T (p.(Pro1413=)), ABCC8(NM_001351295.1):c.4305G>T (p.P1435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862409" "0" "30" "11" "17417403" "17417403" "subst" "5.73909E-5" "01804" "ABCC8_000537" "g.17417403G>A" "" "" "" "ABCC8(NM_000352.3):c.4194C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862410" "0" "70" "11" "17418527" "17418527" "subst" "2.03049E-5" "01804" "ABCC8_000538" "g.17418527C>T" "" "" "" "ABCC8(NM_000352.3):c.4055G>A (p.(Arg1352His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862411" "0" "30" "11" "17418777" "17418777" "subst" "0.000207413" "01804" "ABCC8_000539" "g.17418777G>C" "" "" "" "ABCC8(NM_000352.3):c.3951C>G (p.(Leu1317=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862412" "0" "50" "11" "17419890" "17419890" "subst" "4.06161E-6" "01804" "ABCC8_000540" "g.17419890C>T" "" "" "" "ABCC8(NM_000352.3):c.3749G>A (p.(Arg1250Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862413" "0" "30" "11" "17419907" "17419907" "subst" "1.2183E-5" "01804" "ABCC8_000541" "g.17419907G>A" "" "" "" "ABCC8(NM_000352.3):c.3732C>T (p.(Asn1244=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862414" "0" "30" "11" "17424308" "17424308" "subst" "0.000475873" "01804" "ABCC8_000543" "g.17424308G>A" "" "" "" "ABCC8(NM_000352.3):c.3558-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862415" "0" "30" "11" "17426202" "17426202" "subst" "2.09765E-5" "01804" "ABCC8_000544" "g.17426202C>T" "" "" "" "ABCC8(NM_000352.3):c.3414G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862416" "0" "30" "11" "17426227" "17426227" "subst" "0" "01804" "ABCC8_000545" "g.17426227C>T" "" "" "" "ABCC8(NM_000352.3):c.3400-11G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862417" "0" "70" "11" "17428256" "17428256" "subst" "4.06128E-6" "01804" "ABCC8_000546" "g.17428256G>A" "" "" "" "ABCC8(NM_000352.3):c.3242C>T (p.(Thr1081Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862418" "0" "30" "11" "17428295" "17428295" "subst" "0.000219295" "01804" "ABCC8_000508" "g.17428295G>A" "" "" "" "ABCC8(NM_000352.3):c.3203C>T (p.(Thr1068Met)), ABCC8(NM_000352.6):c.3203C>T (p.T1068M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862419" "0" "30" "11" "17428327" "17428327" "subst" "4.06091E-6" "01804" "ABCC8_000171" "g.17428327G>A" "" "" "" "ABCC8(NM_000352.3):c.3171C>T (p.(Thr1057=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862420" "0" "30" "11" "17428424" "17428424" "subst" "0.000256371" "01804" "ABCC8_000547" "g.17428424G>A" "" "" "" "ABCC8(NM_000352.3):c.3162+11C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862421" "0" "50" "11" "17428550" "17428550" "subst" "1.22357E-5" "01804" "ABCC8_000548" "g.17428550A>G" "" "" "" "ABCC8(NM_000352.3):c.3047T>C (p.(Val1016Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862422" "0" "30" "11" "17428558" "17428558" "subst" "0.000212245" "01804" "ABCC8_000549" "g.17428558C>T" "" "" "" "ABCC8(NM_000352.3):c.3039G>A (p.(Ser1013=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862423" "0" "50" "11" "17428559" "17428559" "subst" "8.16587E-6" "01804" "ABCC8_000550" "g.17428559G>A" "" "" "" "ABCC8(NM_000352.3):c.3038C>T (p.(Ser1013Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862424" "0" "50" "11" "17428578" "17428578" "subst" "0" "01804" "ABCC8_000551" "g.17428578C>T" "" "" "" "ABCC8(NM_000352.3):c.3019G>A (p.(Ala1007Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862425" "0" "30" "11" "17428668" "17428668" "subst" "9.67623E-5" "01804" "ABCC8_000521" "g.17428668C>T" "" "" "" "ABCC8(NM_000352.3):c.2929G>A (p.(Ala977Thr)), ABCC8(NM_000352.6):c.2929G>A (p.A977T), ABCC8(NM_001351295.1):c.2995G>A (p.A999T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862426" "0" "30" "11" "17429924" "17429924" "subst" "0" "01804" "ABCC8_000552" "g.17429924C>G" "" "" "" "ABCC8(NM_000352.3):c.2820+15G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862427" "0" "50" "11" "17429961" "17429961" "subst" "1.21871E-5" "01804" "ABCC8_000280" "g.17429961C>T" "" "" "" "ABCC8(NM_000352.3):c.2798G>A (p.(Arg933Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862428" "0" "50" "11" "17429962" "17429962" "subst" "1.21864E-5" "01804" "ABCC8_000553" "g.17429962G>C" "" "" "" "ABCC8(NM_000352.3):c.2797C>G (p.(Arg933Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862429" "0" "50" "11" "17429980" "17429980" "subst" "0" "01804" "ABCC8_000554" "g.17429980A>G" "" "" "" "ABCC8(NM_000352.3):c.2779T>C (p.(Trp927Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862430" "0" "30" "11" "17436145" "17436145" "subst" "6.90406E-5" "01804" "ABCC8_000555" "g.17436145G>A" "" "" "" "ABCC8(NM_000352.3):c.2304C>T (p.(Pro768=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862431" "0" "30" "11" "17436878" "17436878" "subst" "7.13381E-5" "01804" "ABCC8_000556" "g.17436878C>T" "" "" "" "ABCC8(NM_000352.3):c.2264G>A (p.(Arg755Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862432" "0" "50" "11" "17438487" "17438487" "subst" "4.06412E-6" "01804" "ABCC8_000557" "g.17438487C>G" "" "" "" "ABCC8(NM_000352.3):c.2245G>C (p.(Glu749Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862433" "0" "30" "11" "17448648" "17448648" "subst" "0" "01804" "ABCC8_000558" "g.17448648G>A" "" "" "" "ABCC8(NM_000352.3):c.2170C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862434" "0" "50" "11" "17449470" "17449470" "subst" "0" "01804" "ABCC8_000559" "g.17449470G>C" "" "" "" "ABCC8(NM_000352.3):c.2060C>G (p.(Thr687Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862435" "0" "50" "11" "17449853" "17449853" "subst" "8.13385E-6" "01804" "ABCC8_000560" "g.17449853C>T" "" "" "" "ABCC8(NM_000352.3):c.2023G>A (p.(Asp675Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862436" "0" "50" "11" "17449919" "17449919" "subst" "1.2198E-5" "01804" "ABCC8_000561" "g.17449919G>A" "" "" "" "ABCC8(NM_000352.3):c.1957C>T (p.(Arg653Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862437" "0" "30" "11" "17450132" "17450132" "subst" "8.13392E-6" "01804" "ABCC8_000562" "g.17450132C>T" "" "" "" "ABCC8(NM_000352.3):c.1903G>A (p.(Ala635Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862438" "0" "90" "11" "17452386" "17452386" "subst" "1.21845E-5" "01804" "ABCC8_000563" "g.17452386G>A" "" "" "" "ABCC8(NM_000352.3):c.1792C>T (p.(Arg598Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000862439" "0" "30" "11" "17452393" "17452393" "subst" "8.12269E-6" "01804" "ABCC8_000523" "g.17452393A>T" "" "" "" "ABCC8(NM_000352.3):c.1785T>A (p.(Ser595Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862440" "0" "70" "11" "17452434" "17452434" "subst" "0" "01804" "ABCC8_000564" "g.17452434G>A" "" "" "" "ABCC8(NM_000352.3):c.1744C>T (p.(Leu582Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862441" "0" "50" "11" "17452440" "17452440" "subst" "0" "01804" "ABCC8_000565" "g.17452440G>A" "" "" "" "ABCC8(NM_000352.3):c.1738C>T (p.(Leu580Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862442" "0" "30" "11" "17452500" "17452500" "subst" "0.000631251" "01804" "ABCC8_000566" "g.17452500C>T" "" "" "" "ABCC8(NM_000352.3):c.1678G>A (p.(Val560Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862443" "0" "30" "11" "17464257" "17464257" "subst" "0.000142288" "01804" "ABCC8_000567" "g.17464257G>A" "" "" "" "ABCC8(NM_000352.3):c.1630+10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862444" "0" "50" "11" "17464735" "17464735" "subst" "2.84456E-5" "01804" "ABCC8_000525" "g.17464735C>T" "" "" "" "ABCC8(NM_000352.3):c.1457G>A (p.(Arg486Gln)), ABCC8(NM_001351295.1):c.1457G>A (p.R486Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862445" "0" "50" "11" "17470088" "17470088" "subst" "0" "01804" "ABCC8_000568" "g.17470088G>T" "" "" "" "ABCC8(NM_000352.3):c.1307C>A (p.(Pro436Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862446" "0" "30" "11" "17482119" "17482119" "subst" "2.84884E-5" "01804" "ABCC8_000569" "g.17482119G>A" "" "" "" "ABCC8(NM_000352.3):c.927C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862447" "0" "30" "11" "17482231" "17482231" "subst" "4.20741E-5" "01804" "ABCC8_000571" "g.17482231G>A" "" "" "" "ABCC8(NM_000352.3):c.823-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862448" "0" "30" "11" "17483187" "17483187" "subst" "5.68528E-5" "01804" "ABCC8_000572" "g.17483187G>A" "" "" "" "ABCC8(NM_000352.3):c.765C>T (p.(Ile255=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862449" "0" "30" "11" "17483217" "17483217" "subst" "0.000162427" "01804" "ABCC8_000573" "g.17483217G>A" "" "" "" "ABCC8(NM_000352.3):c.735C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862450" "0" "50" "11" "17483305" "17483305" "subst" "4.46686E-5" "01804" "ABCC8_000574" "g.17483305C>T" "" "" "" "ABCC8(NM_000352.3):c.647G>A (p.(Arg216His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862451" "0" "50" "11" "17483332" "17483332" "subst" "2.0311E-5" "01804" "ABCC8_000575" "g.17483332G>A" "" "" "" "ABCC8(NM_000352.3):c.620C>T (p.(Pro207Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862452" "0" "30" "11" "17485077" "17485077" "subst" "0.000233979" "01804" "ABCC8_000576" "g.17485077C>T" "" "" "" "ABCC8(NM_000352.3):c.487G>A (p.(Gly163Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862453" "0" "50" "11" "17485156" "17485156" "subst" "8.60635E-5" "01804" "ABCC8_000577" "g.17485156C>T" "" "" "" "ABCC8(NM_000352.3):c.413-5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862454" "0" "50" "11" "17491671" "17491671" "subst" "0" "01804" "ABCC8_000578" "g.17491671G>A" "" "" "" "ABCC8(NM_000352.3):c.389C>T (p.(Ser130Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862455" "0" "30" "11" "17491717" "17491717" "subst" "0.000251783" "01804" "ABCC8_000579" "g.17491717T>C" "" "" "" "ABCC8(NM_000352.3):c.343A>G (p.(Met115Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000862456" "0" "70" "11" "17491736" "17491754" "del" "0" "01804" "ABCC8_000580" "g.17491736_17491754del" "" "" "" "ABCC8(NM_000352.3):c.309_327del (p.(His103Glnfs*28))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862457" "0" "30" "11" "17491774" "17491774" "subst" "0" "01804" "ABCC8_000581" "g.17491774G>A" "" "" "" "ABCC8(NM_000352.3):c.291-5C>T (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889716" "0" "50" "11" "17409602" "17409602" "subst" "0.000298237" "02325" "ABCC8_000527" "g.17409602C>T" "" "" "" "KCNJ11(NM_000525.3):c.37G>A (p.(Val13Met)), KCNJ11(NM_000525.4):c.37G>A (p.V13M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889717" "0" "50" "11" "17414669" "17414669" "subst" "0" "01804" "ABCC8_000184" "g.17414669C>T" "" "" "" "ABCC8(NM_000352.3):c.4615G>A (p.(Val1539Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889718" "0" "50" "11" "17415926" "17415926" "subst" "0" "02327" "ABCC8_000582" "g.17415926C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889719" "0" "70" "11" "17417206" "17417206" "subst" "0" "02327" "ABCC8_000583" "g.17417206G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889720" "0" "90" "11" "17419891" "17419891" "subst" "0" "02325" "ABCC8_000584" "g.17419891G>A" "" "" "" "ABCC8(NM_000352.6):c.3748C>T (p.R1250*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889721" "0" "50" "11" "17419977" "17419977" "subst" "2.03072E-5" "02327" "ABCC8_000585" "g.17419977C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889722" "0" "70" "11" "17424280" "17424280" "subst" "4.06124E-5" "01804" "ABCC8_000250" "g.17424280T>A" "" "" "" "ABCC8(NM_000352.3):c.3578A>T (p.(Asp1193Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000889723" "0" "30" "11" "17426228" "17426228" "subst" "0" "01804" "ABCC8_000586" "g.17426228G>A" "" "" "" "ABCC8(NM_000352.3):c.3400-12C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889724" "0" "50" "11" "17428443" "17428443" "subst" "4.06851E-6" "02329" "ABCC8_000442" "g.17428443G>A" "" "" "" "ABCC8(NM_000352.3):c.3154C>T (p.(Leu1052Phe)), ABCC8(NM_001351295.2):c.3220C>T (p.L1074F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889725" "0" "90" "11" "17428964" "17428964" "subst" "1.62425E-5" "02325" "ABCC8_000445" "g.17428964G>A" "" "" "" "ABCC8(NM_000352.3):c.2857C>T (p.(Gln953*)), ABCC8(NM_000352.6):c.2857C>T (p.Q953*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000889726" "0" "30" "11" "17435031" "17435031" "subst" "8.12288E-5" "01804" "ABCC8_000587" "g.17435031G>A" "" "" "" "ABCC8(NM_000352.3):c.2391-6C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889727" "0" "50" "11" "17450176" "17450176" "subst" "8.13273E-6" "02327" "ABCC8_000588" "g.17450176C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889728" "0" "30" "11" "17482192" "17482192" "subst" "0.000115385" "01804" "ABCC8_000589" "g.17482192C>T" "" "" "" "ABCC8(NM_000352.3):c.854G>A (p.(Arg285Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889729" "0" "30" "11" "17483157" "17483157" "subst" "4.0624E-6" "01804" "ABCC8_000590" "g.17483157C>A" "" "" "" "ABCC8(NM_000352.3):c.795G>T (p.(Arg265=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889730" "0" "30" "11" "17485005" "17485005" "subst" "0" "01804" "ABCC8_000591" "g.17485005C>T" "" "" "" "ABCC8(NM_000352.3):c.559G>A (p.(Val187Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000889731" "0" "50" "11" "17485121" "17485121" "subst" "4.88773E-6" "01804" "ABCC8_000592" "g.17485121A>G" "" "" "" "ABCC8(NM_000352.3):c.443T>C (p.(Ile148Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000889732" "0" "50" "11" "17496451" "17496451" "subst" "0" "01804" "ABCC8_000593" "g.17496451T>G" "" "" "" "ABCC8(NM_000352.3):c.272A>C (p.(Glu91Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913536" "0" "90" "11" "17416721" "17416721" "del" "0" "01804" "ABCC8_000594" "g.17416721del" "" "" "" "ABCC8(NM_000352.3):c.4409del (p.(Leu1470Profs*27))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000913537" "0" "50" "11" "17418466" "17418466" "subst" "0.000158498" "01804" "ABCC8_000595" "g.17418466C>T" "" "" "" "ABCC8(NM_000352.3):c.4116G>A (p.(Gln1372=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913538" "0" "30" "11" "17426100" "17426100" "subst" "1.62441E-5" "01804" "ABCC8_000596" "g.17426100G>A" "" "" "" "ABCC8(NM_000352.3):c.3516C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913539" "0" "50" "11" "17428277" "17428277" "subst" "0" "02329" "ABCC8_000597" "g.17428277C>A" "" "" "" "ABCC8(NM_001351295.2):c.3287G>T (p.G1096V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913540" "0" "30" "11" "17432123" "17432123" "subst" "2.43651E-5" "01804" "ABCC8_000598" "g.17432123G>A" "" "" "" "ABCC8(NM_000352.3):c.2634C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913541" "0" "30" "11" "17434925" "17434925" "subst" "4.87278E-5" "01804" "ABCC8_000599" "g.17434925A>T" "" "" "" "ABCC8(NM_000352.3):c.2475+16T>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913542" "0" "50" "11" "17450187" "17450187" "subst" "0" "01804" "ABCC8_000600" "g.17450187A>C" "" "" "" "ABCC8(NM_000352.3):c.1848T>G (p.(Ser616Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913543" "0" "30" "11" "17452341" "17452341" "subst" "1.6248E-5" "01804" "ABCC8_000601" "g.17452341C>T" "" "" "" "ABCC8(NM_000352.3):c.1817+20G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000913544" "0" "50" "11" "17483249" "17483249" "subst" "4.06068E-6" "01804" "ABCC8_000602" "g.17483249C>T" "" "" "" "ABCC8(NM_000352.3):c.703G>A (p.(Ala235Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913545" "0" "50" "11" "17485134" "17485134" "subst" "0" "01804" "ABCC8_000603" "g.17485134T>C" "" "" "" "ABCC8(NM_000352.3):c.430A>G (p.(Thr144Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000913546" "0" "50" "11" "17496541" "17496541" "subst" "0" "01804" "ABCC8_000604" "g.17496541T>C" "" "" "" "ABCC8(NM_000352.3):c.182A>G (p.(His61Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925348" "0" "50" "11" "17416805" "17416805" "subst" "7.9927E-5" "01804" "ABCC8_000605" "g.17416805T>A" "" "" "" "ABCC8(NM_000352.3):c.4325A>T (p.(Glu1442Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925349" "0" "30" "11" "17452423" "17452423" "subst" "4.06121E-6" "01804" "ABCC8_000606" "g.17452423G>T" "" "" "" "ABCC8(NM_000352.3):c.1755C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925350" "0" "30" "11" "17464411" "17464411" "subst" "9.38255E-5" "01804" "ABCC8_000607" "g.17464411G>A" "" "" "" "ABCC8(NM_000352.3):c.1486C>T (p.(Leu496=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000925351" "0" "50" "11" "17482223" "17482223" "subst" "0" "01804" "ABCC8_000608" "g.17482223G>A" "" "" "" "ABCC8(NM_000352.3):c.823C>T (p.(Arg275Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000925352" "0" "50" "11" "17496467" "17496467" "subst" "0" "01804" "ABCC8_000609" "g.17496467C>T" "" "" "" "ABCC8(NM_000352.3):c.256G>A (p.(Val86Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929825" "0" "50" "11" "17414582" "17414582" "subst" "4.06194E-6" "02325" "ABCC8_000610" "g.17414582G>A" "" "" "" "ABCC8(NM_000352.6):c.4702C>T (p.R1568W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929826" "0" "30" "11" "17415804" "17415804" "subst" "1.22095E-5" "01804" "ABCC8_000611" "g.17415804A>G" "" "" "" "ABCC8(NM_000352.3):c.4545+9T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929827" "0" "50" "11" "17415923" "17415923" "subst" "0" "01804" "ABCC8_000612" "g.17415923C>T" "" "" "" "ABCC8(NM_000352.3):c.4435G>A (p.(Glu1479Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929828" "0" "30" "11" "17415960" "17415960" "subst" "4.06124E-5" "01804" "ABCC8_000613" "g.17415960G>A" "" "" "" "ABCC8(NM_000352.3):c.4412-14C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929829" "0" "50" "11" "17448630" "17448630" "subst" "4.06303E-6" "01804" "ABCC8_000614" "g.17448630T>C" "" "" "" "ABCC8(NM_000352.3):c.2188A>G (p.(Met730Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929830" "0" "30" "11" "17482222" "17482222" "subst" "0.000246781" "01804" "ABCC8_000505" "g.17482222C>T" "" "" "" "ABCC8(NM_000352.3):c.824G>A (p.(Arg275Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929831" "0" "50" "11" "17498263" "17498263" "subst" "0" "01804" "ABCC8_000615" "g.17498263C>T" "" "" "" "ABCC8(NM_000352.3):c.61G>A (p.(Val21Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949621" "0" "50" "11" "17415914" "17415914" "subst" "0" "02325" "ABCC8_000169" "g.17415914T>C" "" "" "" "ABCC8(NM_000352.6):c.4444A>G (p.S1482G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949622" "0" "50" "11" "17418476" "17418476" "subst" "2.43754E-5" "01804" "ABCC8_000616" "g.17418476G>A" "" "" "" "ABCC8(NM_000352.3):c.4106C>T (p.(Ala1369Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949623" "0" "50" "11" "17418522" "17418522" "subst" "0" "01804" "ABCC8_000617" "g.17418522C>T" "" "" "" "ABCC8(NM_000352.3):c.4060G>A (p.(Asp1354Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949624" "0" "30" "11" "17418603" "17418603" "subst" "0.000434592" "01804" "ABCC8_000224" "g.17418603G>A" "" "" "" "ABCC8(NM_000352.3):c.3989-10C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949625" "0" "30" "11" "17426181" "17426181" "subst" "0.000784987" "01804" "ABCC8_000618" "g.17426181G>A" "" "" "" "ABCC8(NM_000352.3):c.3435C>T (p.(Ser1145=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949626" "0" "50" "11" "17449934" "17449934" "subst" "2.03366E-5" "01804" "ABCC8_000619" "g.17449934G>A" "" "" "" "ABCC8(NM_000352.3):c.1942C>T (p.(Arg648Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949627" "0" "50" "11" "17452389" "17452389" "subst" "4.06134E-6" "01804" "ABCC8_000620" "g.17452389C>T" "" "" "" "ABCC8(NM_000352.3):c.1789G>A (p.(Val597Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949628" "0" "50" "11" "17452463" "17452463" "subst" "2.0309E-5" "01804" "ABCC8_000621" "g.17452463G>A" "" "" "" "ABCC8(NM_000352.3):c.1715C>T (p.(Ser572Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949629" "0" "50" "11" "17464335" "17464335" "subst" "0.000105725" "02325" "ABCC8_000172" "g.17464335C>T" "" "" "" "ABCC8(NM_000352.3):c.1562G>A (p.(Arg521Gln)), ABCC8(NM_000352.6):c.1562G>A (p.R521Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949630" "0" "50" "11" "17464363" "17464363" "subst" "0" "01804" "ABCC8_000622" "g.17464363A>G" "" "" "" "ABCC8(NM_000352.3):c.1534T>C (p.(Tyr512His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949631" "0" "30" "11" "17470153" "17470153" "subst" "1.62437E-5" "01804" "ABCC8_000623" "g.17470153A>G" "" "" "" "ABCC8(NM_000352.3):c.1242T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949632" "0" "30" "11" "17474842" "17474842" "subst" "0" "01804" "ABCC8_000624" "g.17474842A>G" "" "" "" "ABCC8(NM_000352.3):c.1012-12T>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949633" "0" "30" "11" "17485012" "17485012" "subst" "0.000220988" "01804" "ABCC8_000625" "g.17485012G>A" "" "" "" "ABCC8(NM_000352.3):c.552C>T (p.(Leu184=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949634" "0" "30" "11" "17485078" "17485078" "subst" "5.51694E-5" "01804" "ABCC8_000626" "g.17485078G>A" "" "" "" "ABCC8(NM_000352.3):c.486C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966242" "0" "50" "11" "17414604" "17414604" "subst" "8.12374E-6" "01804" "ABCC8_000627" "g.17414604A>T" "" "" "" "ABCC8(NM_000352.3):c.4680T>A (p.(Asp1560Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966246" "0" "90" "11" "17417462" "17417462" "subst" "0" "01804" "ABCC8_000628" "g.17417462G>A" "" "" "" "ABCC8(NM_000352.3):c.4135C>T (p.(Arg1379Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966250" "0" "50" "11" "17419323" "17419323" "subst" "5.70558E-5" "02325" "ABCC8_000237" "g.17419323C>T" "" "" "" "ABCC8(NM_000352.3):c.3775G>A (p.(Val1259Met)), ABCC8(NM_000352.6):c.3775G>A (p.V1259M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966251" "0" "30" "11" "17426136" "17426136" "subst" "0" "01804" "ABCC8_000629" "g.17426136T>C" "" "" "" "ABCC8(NM_000352.3):c.3480A>G (p.(Thr1160=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000966253" "0" "50" "11" "17432140" "17432140" "subst" "0" "02325" "ABCC8_000630" "g.17432140G>A" "" "" "" "ABCC8(NM_000352.6):c.2617C>T (p.L873F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966259" "0" "50" "11" "17449852" "17449852" "subst" "0" "01804" "ABCC8_000631" "g.17449852T>A" "" "" "" "ABCC8(NM_000352.3):c.2024A>T (p.(Asp675Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966264" "0" "50" "11" "17464335" "17464335" "subst" "0.000105725" "01804" "ABCC8_000172" "g.17464335C>T" "" "" "" "ABCC8(NM_000352.3):c.1562G>A (p.(Arg521Gln)), ABCC8(NM_000352.6):c.1562G>A (p.R521Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966265" "0" "50" "11" "17470052" "17470052" "subst" "0" "01804" "ABCC8_000632" "g.17470052C>G" "" "" "" "ABCC8(NM_000352.3):c.1332+11G>C (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966267" "0" "50" "11" "17470143" "17470143" "subst" "0.000694382" "02325" "ABCC8_000149" "g.17470143A>G" "" "" "" "ABCC8(NM_000352.3):c.1252T>C (p.(Cys418Arg)), ABCC8(NM_000352.5):c.1252T>C (p.C418R), ABCC8(NM_000352.6):c.1252T>C (p.C418R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000966273" "0" "50" "11" "17498271" "17498271" "subst" "0" "01804" "ABCC8_000633" "g.17498271T>G" "" "" "" "ABCC8(NM_000352.3):c.53A>C (p.(Asp18Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979484" "0" "50" "11" "17409499" "17409499" "subst" "0" "01804" "ABCC8_000634" "g.17409499T>C" "" "" "" "KCNJ11(NM_000525.4):c.140A>G (p.(Lys47Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979485" "0" "30" "11" "17409573" "17409573" "subst" "4.07319E-5" "01804" "ABCC8_000635" "g.17409573G>A" "" "" "" "KCNJ11(NM_000525.3):c.66C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979486" "0" "30" "11" "17418444" "17418444" "subst" "3.66799E-5" "01804" "ABCC8_000636" "g.17418444G>A" "" "" "" "ABCC8(NM_000352.3):c.4119+19C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979487" "0" "70" "11" "17426065" "17426065" "subst" "4.0624E-6" "01804" "ABCC8_000637" "g.17426065G>A" "" "" "" "ABCC8(NM_000352.3):c.3551C>T (p.(Ala1184Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979488" "0" "30" "11" "17448719" "17448719" "subst" "0.000150175" "01804" "ABCC8_000638" "g.17448719G>T" "" "" "" "ABCC8(NM_000352.3):c.2117-18C>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979489" "0" "50" "11" "17453799" "17453799" "subst" "0" "01804" "ABCC8_000639" "g.17453799G>C" "" "" "" "ABCC8(NM_000352.3):c.1631-8C>G (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979490" "0" "30" "11" "17482161" "17482161" "subst" "8.17742E-6" "01804" "ABCC8_000640" "g.17482161G>A" "" "" "" "ABCC8(NM_000352.3):c.885C>T (p.(Phe295=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979491" "0" "30" "11" "17483331" "17483331" "subst" "4.06256E-6" "01804" "ABCC8_000641" "g.17483331G>T" "" "" "" "ABCC8(NM_000352.3):c.621C>A (p.(Pro207=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000987569" "11" "90" "11" "17434263" "17434263" "subst" "6.20599E-5" "04221" "ABCC8_000642" "g.17434263G>A" "" "" "" "" "This variant was confirmed by Sanger sequencing in patient and parents (paternal confirmed). Other pathogenic variant in RET gene was also identified in WES analysis as a secondary finding: (NM_020975.6:c.2410G>A); Lin 2020:32792356, De Franco 2020:32027066, Farnaes 2018:29644095" "Germline" "yes" "rs72559722" "0" "" "" "g.17412716G>A" "{CV:188915}" "pathogenic (dominant)" "ACMG" "0000998911" "0" "50" "11" "17417402" "17417402" "subst" "0" "02329" "ABCC8_000643" "g.17417402C>T" "" "" "" "ABCC8(NM_001351295.2):c.4261G>A (p.E1421K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998912" "0" "50" "11" "17417456" "17417456" "subst" "0" "01804" "ABCC8_000644" "g.17417456C>T" "" "" "" "ABCC8(NM_001287174.1):c.4144G>A (p.(Gly1382Ser)), ABCC8(NM_001351295.2):c.4207G>A (p.G1403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998913" "0" "70" "11" "17417456" "17417456" "subst" "0" "02329" "ABCC8_000644" "g.17417456C>T" "" "" "" "ABCC8(NM_001287174.1):c.4144G>A (p.(Gly1382Ser)), ABCC8(NM_001351295.2):c.4207G>A (p.G1403S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000998914" "0" "30" "11" "17424204" "17424204" "subst" "0.000162435" "01804" "ABCC8_000243" "g.17424204G>C" "" "" "" "ABCC8(NM_000352.3):c.3650+4C>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998915" "0" "30" "11" "17428695" "17428695" "subst" "0.000307363" "01804" "ABCC8_000645" "g.17428695C>T" "" "" "" "ABCC8(NM_000352.3):c.2921-19G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998916" "0" "50" "11" "17428933" "17428933" "subst" "0.000174608" "02325" "ABCC8_000646" "g.17428933T>C" "" "" "" "ABCC8(NM_000352.6):c.2888A>G (p.D963G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998917" "0" "30" "11" "17436861" "17436861" "subst" "4.19695E-6" "01804" "ABCC8_000647" "g.17436861A>T" "" "" "" "ABCC8(NM_001287174.1):c.2284T>A (p.(Leu762Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998918" "0" "30" "11" "17436904" "17436904" "del" "0" "01804" "ABCC8_000648" "g.17436904del" "" "" "" "ABCC8(NM_000352.3):c.2256-16del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998919" "0" "30" "11" "17449903" "17449903" "subst" "1.21993E-5" "01804" "ABCC8_000649" "g.17449903C>A" "" "" "" "ABCC8(NM_000352.3):c.1973G>T (p.(Gly658Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000998920" "0" "50" "11" "17464281" "17464281" "subst" "8.12988E-6" "01804" "ABCC8_000524" "g.17464281T>C" "" "" "" "ABCC8(NM_001287174.1):c.1616A>G (p.(Tyr539Cys)), ABCC8(NM_001351295.1):c.1616A>G (p.Y539C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998921" "0" "50" "11" "17470134" "17470134" "subst" "0" "01804" "ABCC8_000650" "g.17470134C>T" "" "" "" "ABCC8(NM_000352.3):c.1261G>A (p.(Val421Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000998922" "0" "30" "11" "17482073" "17482073" "subst" "0" "01804" "ABCC8_000651" "g.17482073C>A" "" "" "" "ABCC8(NM_001287174.1):c.973G>T (p.(Asp325Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014771" "0" "70" "11" "17418527" "17418527" "subst" "4.06098E-6" "01804" "ABCC8_000652" "g.17418527C>G" "" "" "" "ABCC8(NM_000352.3):c.4055G>C (p.(Arg1352Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014772" "0" "70" "11" "17418790" "17418790" "subst" "2.03439E-5" "01804" "ABCC8_000653" "g.17418790C>T" "" "" "" "ABCC8(NM_000352.3):c.3938G>A (p.(Arg1313His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014773" "0" "50" "11" "17430022" "17430022" "subst" "0" "01804" "ABCC8_000654" "g.17430022G>C" "" "" "" "ABCC8(NM_000352.3):c.2737C>G (p.(Leu913Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014774" "0" "10" "11" "17448704" "17448704" "subst" "0.440407" "02325" "ABCC8_000461" "g.17448704G>A" "" "" "" "ABCC8(NM_000352.6):c.2117-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001014775" "0" "30" "11" "17450109" "17450109" "subst" "6.10486E-5" "02325" "ABCC8_000466" "g.17450109C>T" "" "" "" "ABCC8(NM_000352.3):c.1923+3G>A (p.?), ABCC8(NM_000352.6):c.1923+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001017595" "0" "70" "11" "17482195" "17482211" "dup" "0" "03779" "ABCC8_000655" "g.17482195_17482211dup" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0001025942" "0" "50" "11" "17409548" "17409548" "subst" "0.000113968" "01804" "ABCC8_000656" "g.17409548G>A" "" "" "" "KCNJ11(NM_000525.3):c.91C>T (p.(Arg31Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025943" "0" "50" "11" "17428668" "17428668" "subst" "9.67623E-5" "02325" "ABCC8_000521" "g.17428668C>T" "" "" "" "ABCC8(NM_000352.3):c.2929G>A (p.(Ala977Thr)), ABCC8(NM_000352.6):c.2929G>A (p.A977T), ABCC8(NM_001351295.1):c.2995G>A (p.A999T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025944" "0" "90" "11" "17448703" "17448703" "subst" "4.10391E-6" "02329" "ABCC8_000657" "g.17448703T>A" "" "" "" "ABCC8(NM_001351295.2):c.2183-2A>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025945" "0" "50" "11" "17470143" "17470143" "subst" "0.000694382" "02326" "ABCC8_000149" "g.17470143A>G" "" "" "" "ABCC8(NM_000352.3):c.1252T>C (p.(Cys418Arg)), ABCC8(NM_000352.5):c.1252T>C (p.C418R), ABCC8(NM_000352.6):c.1252T>C (p.C418R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025946" "0" "50" "11" "17482100" "17482100" "subst" "8.13359E-6" "01804" "ABCC8_000658" "g.17482100C>T" "" "" "" "ABCC8(NM_000352.3):c.946G>A (p.(Gly316Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025947" "0" "50" "11" "17498224" "17498224" "subst" "0" "01804" "ABCC8_000659" "g.17498224C>T" "" "" "" "ABCC8(NM_000352.3):c.100G>A (p.(Val34Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038367" "0" "50" "11" "17414551" "17414551" "subst" "4.46929E-5" "01804" "ABCC8_000179" "g.17414551C>T" "" "" "" "ABCC8(NM_000352.3):c.4733G>A (p.(Arg1578His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038368" "0" "50" "11" "17418531" "17418531" "subst" "0" "01804" "ABCC8_000518" "g.17418531C>T" "" "" "" "ABCC8(NM_000352.6):c.4051G>A (p.(Val1351Met)), ABCC8(NM_001351295.2):c.4117G>A (p.V1373M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038369" "0" "50" "11" "17418851" "17418851" "subst" "3.27718E-5" "01804" "ABCC8_000660" "g.17418851A>C" "" "" "" "ABCC8(NM_000352.6):c.3877T>G (p.(Tyr1293Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038370" "0" "50" "11" "17428926" "17428928" "del" "0" "01804" "ABCC8_000661" "g.17428926_17428928del" "" "" "" "ABCC8(NM_000352.6):c.2895_2897del (p.(Leu966del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038371" "0" "50" "11" "17429956" "17429956" "subst" "2.03123E-5" "01804" "ABCC8_000662" "g.17429956C>T" "" "" "" "ABCC8(NM_000352.6):c.2803G>A (p.(Asp935Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038372" "0" "30" "11" "17438513" "17438513" "subst" "0" "01804" "ABCC8_000663" "g.17438513C>A" "" "" "" "ABCC8(NM_001287174.2):c.2223-1G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001038373" "0" "50" "11" "17449859" "17449859" "subst" "2.03274E-5" "01804" "ABCC8_000664" "g.17449859C>T" "" "" "" "ABCC8(NM_000352.6):c.2017G>A (p.(Asp673Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038374" "0" "50" "11" "17456532" "17456533" "ins" "0" "01804" "ABCC8_000665" "g.17456532_17456533insCGTGTG" "" "" "" "ABCC8(NM_000352.6):c.1631-2741_1631-2740insACACGC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038375" "0" "50" "11" "17470077" "17470077" "subst" "0" "01804" "ABCC8_000666" "g.17470077C>T" "" "" "" "ABCC8(NM_000352.6):c.1318G>A (p.(Ala440Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001038376" "0" "90" "11" "17474789" "17474789" "del" "0" "02325" "ABCC8_000667" "g.17474789del" "" "" "" "ABCC8(NM_000352.6):c.1054delC (p.A353Pfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001045047" "0" "50" "11" "17450194" "17450194" "subst" "0" "03779" "ABCC8_000668" "g.17450194A>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0001046295" "0" "50" "11" "17415245" "17415245" "subst" "8.12137E-6" "01804" "ABCC8_000669" "g.17415245G>A" "" "" "" "ABCC8(NM_000352.3):c.4607C>T (p.(Ala1536Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046296" "0" "50" "11" "17424239" "17424239" "subst" "0" "01804" "ABCC8_000670" "g.17424239C>T" "" "" "" "ABCC8(NM_000352.3):c.3619G>A (p.(Val1207Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046297" "0" "50" "11" "17428439" "17428439" "subst" "4.06838E-6" "01804" "ABCC8_000671" "g.17428439C>T" "" "" "" "ABCC8(NM_000352.3):c.3158G>A (p.(Ser1053Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046298" "0" "90" "11" "17428617" "17428617" "subst" "4.12419E-6" "01804" "ABCC8_000672" "g.17428617C>A" "" "" "" "ABCC8(NM_000352.3):c.2980G>T (p.(Glu994Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046299" "0" "50" "11" "17428659" "17428659" "subst" "1.6655E-5" "01804" "ABCC8_000673" "g.17428659C>T" "" "" "" "ABCC8(NM_000352.3):c.2938G>A (p.(Glu980Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046300" "0" "50" "11" "17432093" "17432093" "subst" "0" "01804" "ABCC8_000674" "g.17432093G>C" "" "" "" "ABCC8(NM_000352.3):c.2664C>G (p.(His888Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046301" "0" "50" "11" "17436131" "17436131" "subst" "0" "01804" "ABCC8_000675" "g.17436131G>A" "" "" "" "ABCC8(NM_000352.3):c.2318C>T (p.(Ser773Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046302" "0" "50" "11" "17450202" "17450202" "subst" "1.22185E-5" "01804" "ABCC8_000676" "g.17450202G>A" "" "" "" "ABCC8(NM_000352.3):c.1833C>T (p.(Ser611=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046303" "0" "30" "11" "17482101" "17482101" "subst" "0.00035791" "01804" "ABCC8_000677" "g.17482101G>A" "" "" "" "ABCC8(NM_000352.3):c.945C>T (p.(Ala315=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## 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 ABCC8 ## Count = 610 "{{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}}" "0000040391" "00001876" "30" "747" "0" "747" "0" "c.747C>T" "r.(?)" "p.(=)" "5" "0000248636" "00001876" "10" "207" "0" "207" "0" "c.207T>C" "r.(?)" "p.(Pro69=)" "" "0000250495" "00001876" "70" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "" "0000258853" "00001876" "10" "1686" "0" "1686" "0" "c.1686C>T" "r.(?)" "p.(His562=)" "" "0000258854" "00001876" "10" "2485" "0" "2485" "0" "c.2485C>T" "r.(?)" "p.(Leu829=)" "" "0000258855" "00001876" "10" "2820" "17" "2820" "17" "c.2820+17A>G" "r.(=)" "p.(=)" "" "0000258856" "00001876" "10" "3819" "0" "3819" "0" "c.3819G>A" "r.(?)" "p.(Arg1273=)" "" "0000258857" "00001876" "10" "4105" "0" "4105" "0" "c.4105G>T" "r.(?)" "p.(Ala1369Ser)" "" "0000258858" "00001876" "10" "579" "14" "579" "14" "c.579+14C>T" "r.(=)" "p.(=)" "" "0000260450" "00001876" "70" "928" "0" "928" "0" "c.928G>A" "r.(?)" "p.(Asp310Asn)" "" "0000261672" "00001876" "50" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Ala355Thr)" "" "0000261673" "00001876" "30" "1332" "4" "1332" "4" "c.1332+4del" "r.spl?" "p.?" "" "0000261674" "00001876" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Ala569=)" "" "0000261675" "00001876" "30" "3867" "7" "3867" "7" "c.3867+7G>A" "r.(=)" "p.(=)" "" "0000261676" "00001876" "30" "3967" "0" "3967" "0" "c.3967G>A" "r.(?)" "p.(Glu1323Lys)" "" "0000261677" "00001876" "50" "751" "0" "751" "0" "c.751G>A" "r.(?)" "p.(Gly251Arg)" "" "0000281717" "00001876" "10" "9712" "0" "9712" "0" "c.*4966A>G" "r.(=)" "p.(=)" "" "0000322089" "00001876" "30" "9753" "0" "9753" "0" "c.*5007G>A" "r.(=)" "p.(=)" "" "0000322091" "00001876" "10" "4728" "0" "4728" "0" "c.4728C>T" "r.(?)" "p.(Phe1576=)" "" "0000322092" "00001876" "30" "4656" "0" "4656" "0" "c.4656G>A" "r.(?)" "p.(Lys1552=)" "" "0000322093" "00001876" "70" "4613" "0" "4613" "0" "c.4613G>A" "r.(?)" "p.(Arg1538Gln)" "" "0000322094" "00001876" "70" "4610" "0" "4610" "0" "c.4610A>G" "r.(?)" "p.(His1537Arg)" "" "0000322097" "00001876" "30" "4542" "0" "4542" "0" "c.4542C>A" "r.(?)" "p.(Ala1514=)" "" "0000322099" "00001876" "50" "4307" "9" "4307" "9" "c.4307+9del" "r.(=)" "p.(=)" "" "0000322100" "00001876" "30" "4198" "18" "4198" "18" "c.4198+18C>T" "r.(=)" "p.(=)" "" "0000322101" "00001876" "30" "4120" "-19" "4120" "-19" "c.4120-19C>T" "r.(=)" "p.(=)" "" "0000322102" "00001876" "30" "4119" "15" "4119" "15" "c.4119+15C>T" "r.(=)" "p.(=)" "" "0000322103" "00001876" "50" "3989" "-9" "3989" "-9" "c.3989-9G>A" "r.(=)" "p.(=)" "" "0000322105" "00001876" "30" "3975" "0" "3975" "0" "c.3975C>T" "r.(?)" "p.(Tyr1325=)" "" "0000322106" "00001876" "30" "3612" "0" "3612" "0" "c.3612C>T" "r.(?)" "p.(Ala1204=)" "" "0000322107" "00001876" "50" "3580" "0" "3580" "0" "c.3580A>G" "r.(?)" "p.(Thr1194Ala)" "" "0000322109" "00001876" "30" "3399" "13" "3399" "13" "c.3399+13G>A" "r.(=)" "p.(=)" "" "0000322110" "00001876" "10" "3329" "6" "3329" "6" "c.3329+6C>T" "r.(=)" "p.(=)" "" "0000322113" "00001876" "30" "2958" "0" "2958" "0" "c.2958G>A" "r.(?)" "p.(Ser986=)" "" "0000322115" "00001876" "50" "2544" "0" "2544" "0" "c.2544C>T" "r.(?)" "p.(Asn848=)" "" "0000322116" "00001876" "10" "2538" "0" "2538" "0" "c.2538C>T" "r.(?)" "p.(His846=)" "" "0000322118" "00001876" "10" "2391" "-17" "2391" "-17" "c.2391-17G>T" "r.(=)" "p.(=)" "" "0000322119" "00001876" "10" "2277" "0" "2277" "0" "c.2277C>T" "r.(?)" "p.(Thr759=)" "" "0000322121" "00001876" "30" "2222" "12" "2222" "12" "c.2222+12A>G" "r.(=)" "p.(=)" "" "0000322122" "00001876" "30" "2209" "0" "2209" "0" "c.2209G>A" "r.(?)" "p.(Val737Ile)" "" "0000322123" "00001876" "30" "1926" "0" "1926" "0" "c.1926C>G" "r.(?)" "p.(Pro642=)" "" "0000322124" "00001876" "30" "1924" "-17" "1924" "-17" "c.1924-17C>T" "r.(=)" "p.(=)" "" "0000322125" "00001876" "30" "1920" "0" "1920" "0" "c.1920G>A" "r.(?)" "p.(Ala640=)" "" "0000322126" "00001876" "30" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Ala640Val)" "" "0000322127" "00001876" "30" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Cys)" "" "0000322129" "00001876" "30" "1707" "0" "1707" "0" "c.1707C>T" "r.(?)" "p.(Ala569=)" "" "0000322130" "00001876" "30" "1644" "0" "1644" "0" "c.1644G>T" "r.(?)" "p.(Thr548=)" "" "0000322131" "00001876" "70" "1577" "0" "1577" "0" "c.1577G>T" "r.(?)" "p.(Arg526Leu)" "" "0000322132" "00001876" "30" "1572" "0" "1572" "0" "c.1572G>A" "r.(?)" "p.(Thr524=)" "" "0000322133" "00001876" "30" "1384" "0" "1384" "0" "c.1384A>G" "r.(?)" "p.(Ile462Val)" "" "0000322134" "00001876" "30" "1332" "4" "1332" "4" "c.1332+4del" "r.spl?" "p.?" "" "0000322136" "00001876" "50" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Cys418Arg)" "" "0000322137" "00001876" "30" "1158" "0" "1158" "0" "c.1158C>T" "r.(?)" "p.(Asn386=)" "" "0000322140" "00001876" "50" "823" "-10" "823" "-10" "c.823-10C>T" "r.(=)" "p.(=)" "" "0000322141" "00001876" "30" "822" "20" "822" "20" "c.822+20C>T" "r.(=)" "p.(=)" "" "0000322143" "00001876" "30" "423" "0" "423" "0" "c.423G>A" "r.(?)" "p.(Val141=)" "" "0000322145" "00001876" "30" "354" "0" "354" "0" "c.354C>T" "r.(?)" "p.(Val118=)" "" "0000322147" "00001876" "30" "279" "0" "279" "0" "c.279C>A" "r.(?)" "p.(Ile93=)" "" "0000322148" "00001876" "30" "105" "0" "105" "0" "c.105G>A" "r.(?)" "p.(Pro35=)" "" "0000341072" "00001876" "50" "3171" "0" "3171" "0" "c.3171C>T" "r.(?)" "p.(Thr1057=)" "" "0000343053" "00001876" "50" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0000345946" "00001876" "50" "839" "0" "839" "0" "c.839G>A" "r.(?)" "p.(Gly280Asp)" "" "0000349694" "00001876" "50" "4351" "0" "4351" "0" "c.4351T>C" "r.(?)" "p.(Trp1451Arg)" "" "0000350116" "00001876" "90" "1473" "0" "1473" "0" "c.1473T>G" "r.(?)" "p.(Tyr491Ter)" "" "0000374101" "00001876" "90" "-216" "0" "2694" "531" "c.-216_2694+531del" "r.0?" "p.0?" "_1_22i" "0000374102" "00001876" "90" "-216" "0" "2694" "531" "c.-216_2694+531del" "r.0?" "p.0?" "_1_22i" "0000374103" "00001876" "90" "-216" "0" "2694" "531" "c.-216_2694+531del" "r.0?" "p.0?" "_1_22i" "0000497876" "00001876" "50" "40" "0" "40" "0" "c.40G>T" "r.(?)" "p.(Ala14Ser)" "1" "0000497877" "00001876" "50" "44" "0" "44" "0" "c.44A>T" "r.(?)" "p.(Tyr15Phe)" "1" "0000497878" "00001876" "50" "121" "0" "121" "0" "c.121T>C" "r.(?)" "p.(Phe41Leu)" "1" "0000497879" "00001876" "50" "175" "0" "175" "0" "c.175C>A" "r.(?)" "p.(His59Asn)" "2" "0000497880" "00001876" "50" "291" "0" "291" "0" "c.291G>T" "r.(?)" "p.(Gly96=)" "3" "0000497881" "00001876" "50" "361" "0" "361" "0" "c.361G>A" "r.(?)" "p.(Val121Met)" "3" "0000497882" "00001876" "50" "362" "0" "362" "0" "c.362T>C" "r.(?)" "p.(Val121Ala)" "3" "0000497883" "00001876" "50" "380" "0" "380" "0" "c.380T>C" "r.(?)" "p.(Ile127Thr)" "3" "0000497884" "00001876" "50" "410" "0" "410" "0" "c.410T>G" "r.(?)" "p.(Ile137Ser)" "3" "0000497885" "00001876" "50" "580" "-16" "580" "-14" "c.580-16_580-14del" "r.spl?" "p.(=)" "4i" "0000497886" "00001876" "50" "581" "0" "581" "0" "c.581G>A" "r.(?)" "p.(Arg194Lys)" "5" "0000497887" "00001876" "50" "602" "0" "602" "0" "c.602C>T" "r.(?)" "p.(Pro201Leu)" "5" "0000497888" "00001876" "50" "718" "0" "718" "0" "c.718G>A" "r.(?)" "p.(Ala240Thr)" "5" "0000497889" "00001876" "50" "769" "0" "769" "0" "c.769A>C" "r.(?)" "p.(Met257Leu)" "5" "0000497890" "00001876" "50" "770" "0" "770" "0" "c.770T>C" "r.(?)" "p.(Met257Thr)" "5" "0000497891" "00001876" "50" "809" "0" "809" "0" "c.809T>G" "r.(?)" "p.(Phe270Cys)" "5" "0000497892" "00001876" "50" "878" "0" "878" "0" "c.878A>C" "r.(?)" "p.(His293Pro)" "6" "0000497893" "00001876" "50" "947" "0" "947" "0" "c.947G>A" "r.(?)" "p.(Gly316Glu)" "6" "0000497894" "00001876" "50" "1024" "0" "1024" "0" "c.1024G>A" "r.(?)" "p.(Gly342Arg)" "7" "0000497895" "00001876" "50" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Val357Ile)" "7" "0000497896" "00001876" "50" "1183" "0" "1183" "0" "c.1183A>T" "r.(?)" "p.(Ile395Phe)" "8" "0000497897" "00001876" "50" "1238" "0" "1238" "0" "c.1238C>G" "r.(?)" "p.(Thr413Ser)" "8" "0000497898" "00001876" "50" "1271" "0" "1271" "0" "c.1271A>G" "r.(?)" "p.(Asp424Gly)" "8" "0000497899" "00001876" "50" "1337" "0" "1337" "0" "c.1337T>C" "r.(?)" "p.(Ile446Thr)" "9" "0000497900" "00001876" "50" "1369" "0" "1369" "0" "c.1369G>A" "r.(?)" "p.(Gly457Arg)" "9" "0000497901" "00001876" "50" "1510" "0" "1510" "0" "c.1510C>T" "r.(?)" "p.(Arg504Cys)" "10" "0000497902" "00001876" "50" "1513" "0" "1513" "0" "c.1513G>T" "r.(?)" "p.(Gly505Cys)" "10" "0000497903" "00001876" "50" "1537" "0" "1537" "0" "c.1537G>A" "r.(?)" "p.(Ala513Thr)" "10" "0000497904" "00001876" "50" "1561" "0" "1561" "0" "c.1561C>T" "r.(?)" "p.(Arg521Trp)" "10" "0000497905" "00001876" "50" "1564" "0" "1564" "0" "c.1564G>A" "r.(?)" "p.(Val522Met)" "10" "0000497906" "00001876" "50" "1609" "0" "1609" "0" "c.1609G>A" "r.(?)" "p.(Ala537Thr)" "10" "0000497907" "00001876" "50" "1723" "0" "1723" "0" "c.1723G>A" "r.(?)" "p.(Val575Met)" "12" "0000497908" "00001876" "50" "1741" "0" "1741" "0" "c.1741T>A" "r.(?)" "p.(Ser581Thr)" "12" "0000497909" "00001876" "50" "1837" "0" "1837" "0" "c.1837T>C" "r.(?)" "p.(Phe613Leu)" "13" "0000497910" "00001876" "50" "1924" "-44" "1924" "-44" "c.1924-44A>G" "r.spl?" "p.(=)" "13i" "0000497911" "00001876" "50" "1967" "0" "1967" "0" "c.1967G>T" "r.(?)" "p.(Cys656Phe)" "14" "0000497912" "00001876" "50" "2104" "0" "2104" "0" "c.2104C>T" "r.(?)" "p.(Arg702Cys)" "15" "0000497913" "00001876" "50" "2116" "61" "2116" "61" "c.2116+61A>G" "r.spl?" "p.(=)" "15i" "0000497914" "00001876" "50" "2191" "0" "2191" "0" "c.2191C>G" "r.(?)" "p.(Gln731Glu)" "16" "0000497915" "00001876" "50" "2305" "0" "2305" "0" "c.2305G>A" "r.(?)" "p.(Val769Met)" "19" "0000497916" "00001876" "50" "2488" "0" "2488" "0" "c.2488T>A" "r.(?)" "p.(Ser830Thr)" "21" "0000497917" "00001876" "50" "2501" "0" "2501" "0" "c.2501G>A" "r.(?)" "p.(Arg834His)" "21" "0000497918" "00001876" "50" "2509" "0" "2509" "0" "c.2509A>G" "r.(?)" "p.(Ile837Val)" "21" "0000497919" "00001876" "50" "2516" "0" "2516" "0" "c.2516T>C" "r.(?)" "p.(Val839Ala)" "21" "0000497920" "00001876" "50" "2543" "0" "2543" "0" "c.2543A>C" "r.(?)" "p.(Asn848Thr)" "21" "0000497921" "00001876" "50" "2585" "0" "2585" "0" "c.2585A>G" "r.(?)" "p.(His862Arg)" "22" "0000497922" "00001876" "50" "2798" "0" "2798" "0" "c.2798G>A" "r.(?)" "p.(Arg933Gln)" "23" "0000497923" "00001876" "50" "3001" "0" "3001" "0" "c.3001G>A" "r.(?)" "p.(Ala1001Thr)" "25" "0000497924" "00001876" "50" "3053" "0" "3053" "0" "c.3053C>T" "r.(?)" "p.(Ser1018Leu)" "25" "0000497925" "00001876" "50" "3110" "0" "3110" "0" "c.3110C>A" "r.(?)" "p.(Thr1037Asn)" "25" "0000497926" "00001876" "50" "3493" "0" "3493" "0" "c.3493G>A" "r.(?)" "p.(Val1165Met)" "28" "0000497927" "00001876" "50" "3558" "-19" "3558" "-19" "c.3558-19A>C" "r.spl?" "p.(=)" "28i" "0000497928" "00001876" "50" "3622" "0" "3622" "0" "c.3622G>A" "r.(?)" "p.(Glu1208Lys)" "29" "0000497929" "00001876" "50" "3648" "0" "3648" "0" "c.3648C>G" "r.(?)" "p.(Phe1216Leu)" "29" "0000497930" "00001876" "50" "3650" "4" "3650" "4" "c.3650+4C>G" "r.spl?" "p.?" "29i" "0000497931" "00001876" "50" "3719" "0" "3719" "0" "c.3719T>G" "r.(?)" "p.(Leu1240Arg)" "30" "0000497932" "00001876" "50" "3743" "0" "3743" "0" "c.3743A>C" "r.(?)" "p.(Glu1248Ala)" "30" "0000497933" "00001876" "50" "3755" "0" "3755" "0" "c.3755A>G" "r.(?)" "p.(Glu1252Gly)" "31" "0000497934" "00001876" "50" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Val1259Met)" "31" "0000497935" "00001876" "50" "3989" "-10" "3989" "-10" "c.3989-10C>T" "r.spl?" "p.(=)" "32i" "0000497936" "00001876" "50" "4120" "-17" "4120" "-17" "c.4120-17T>C" "r.spl?" "p.(=)" "33i" "0000497937" "00001876" "50" "4265" "0" "4265" "0" "c.4265C>T" "r.(?)" "p.(Ser1422Phe)" "35" "0000497938" "00001876" "50" "4276" "0" "4276" "0" "c.4276C>A" "r.(?)" "p.(Gln1426Lys)" "35" "0000497939" "00001876" "50" "4314" "0" "4314" "0" "c.4314C>T" "r.(?)" "p.(Asn14398=)" "36" "0000497940" "00001876" "50" "4322" "0" "4322" "0" "c.4322C>T" "r.(?)" "p.(Pro1441Leu)" "36" "0000497941" "00001876" "50" "4351" "0" "4351" "0" "c.4351T>C" "r.(?)" "p.(Trp1451Arg)" "36" "0000497942" "00001876" "50" "4369" "0" "4369" "0" "c.4369G>C" "r.(?)" "p.(Ala1457Pro)" "36" "0000497943" "00001876" "50" "4431" "0" "4431" "0" "c.4431C>T" "r.(?)" "p.(Gly1477=)" "37" "0000497944" "00001876" "50" "4482" "0" "4482" "0" "c.4482C>T" "r.(?)" "p.(Ala1494=)" "37" "0000497945" "00001876" "50" "4486" "0" "4486" "0" "c.4486G>A" "r.(?)" "p.(Val1496Met)" "37" "0000497946" "00001876" "50" "4508" "0" "4508" "0" "c.4508T>A" "r.(?)" "p.(Ile1503Asn)" "37" "0000497947" "00001876" "50" "4589" "0" "4589" "0" "c.4589G>A" "r.(?)" "p.(Arg1530His)" "38" "0000497948" "00001876" "50" "4597" "0" "4597" "0" "c.4597G>C" "r.(?)" "p.(Val1533Leu)" "38" "0000497949" "00001876" "50" "4723" "0" "4723" "0" "c.4723T>C" "r.(?)" "p.(Ser1575Pro)" "39" "0000497950" "00001876" "50" "4733" "0" "4733" "0" "c.4733G>A" "r.(?)" "p.(Arg1578His)" "39" "0000497951" "00001876" "90" "-1" "0" "1011" "1" "c.(?_-1)_(1011+1_1012-1)del" "r.0?" "p.0?" "_1_6i" "0000497952" "00001876" "90" "" "0" "" "0" "c.(?_-1)_(*1_)del" "r.0?" "p.0?" "_1_39_" "0000497953" "00001876" "90" "19" "0" "19" "0" "c.19G>T" "r.(?)" "p.(Gly7Cys)" "1" "0000497954" "00001876" "90" "25" "0" "25" "0" "c.25G>T" "r.(?)" "p.(Glu9*)" "1" "0000497955" "00001876" "90" "29" "0" "29" "0" "c.29del" "r.(?)" "p.(Asn10Thrfs*68)" "1" "0000497956" "00001876" "90" "55" "0" "55" "0" "c.55C>T" "r.(?)" "p.(Gln19*)" "1" "0000497957" "00001876" "90" "74" "0" "74" "0" "c.74del" "r.(?)" "p.(Gly25Alafs*53)" "1" "0000497958" "00001876" "90" "78" "0" "78" "0" "c.78C>G" "r.(?)" "p.(Cys26Trp)" "1" "0000497959" "00001876" "90" "81" "0" "82" "0" "c.81_82insA" "r.(?)" "p.(Val28Serfs*61)" "1" "0000497960" "00001876" "90" "137" "0" "137" "0" "c.137T>C" "r.(?)" "p.(Ile46Thr)" "1" "0000497961" "00001876" "90" "148" "1" "148" "1" "c.148+1G>A" "r.spl" "p.?" "1i" "0000497962" "00001876" "90" "149" "-1" "290" "1" "c.(148+1_149-1)_(290+1_291-1)del" "r.?" "p.?" "" "0000497963" "00001876" "90" "173" "0" "173" "0" "c.173T>A" "r.(?)" "p.(Val58Glu)" "2" "0000497964" "00001876" "90" "195" "0" "195" "0" "c.195G>A" "r.(?)" "p.(Trp65*)" "2" "0000497965" "00001876" "90" "221" "0" "221" "0" "c.221G>T" "r.(?)" "p.(Arg74Leu)" "2" "0000497966" "00001876" "90" "225" "0" "229" "0" "c.225_229del" "r.(?)" "p.(Trp75Cysfs*12)" "2" "0000497967" "00001876" "90" "291" "-1" "822" "1" "c.(290+1_291-1)_(822+1_823-1)del" "r.?" "p.?" "" "0000497968" "00001876" "90" "398" "0" "398" "0" "c.398C>G" "r.(?)" "p.(Pro133Arg)" "3" "0000497969" "00001876" "90" "413" "-1" "579" "1" "c.(412+1_413-1)_(579+1_580-1)del" "r.?" "p.?" "" "0000497970" "00001876" "90" "415" "0" "415" "0" "c.415del" "r.(?)" "p.(Leu139Cysfs*38)" "4" "0000497971" "00001876" "90" "522" "0" "522" "0" "c.522dup" "r.(?)" "p.(Leu175Alafs*97)" "4" "0000497972" "00001876" "90" "580" "-3" "580" "-3" "c.580-3C>G" "r.spl?" "p.?" "4i" "0000497973" "00001876" "90" "580" "-2" "580" "-2" "c.580-2A>G" "r.spl" "p.?" "4i" "0000497974" "00001876" "90" "617" "0" "617" "0" "c.617C>T" "r.(?)" "p.(Pro206Leu)" "5" "0000497975" "00001876" "90" "635" "0" "635" "0" "c.635A>G" "r.(?)" "p.(Asp212Gly)" "5" "0000497976" "00001876" "90" "636" "0" "636" "0" "c.636C>G" "r.(?)" "p.(Asp212Glu)" "5" "0000497977" "00001876" "90" "674" "0" "675" "0" "c.674_675insCACGAAGTAGCA" "r.(?)" "p.(Ser226_Asp1580delinsThr)" "5" "0000497978" "00001876" "90" "689" "0" "689" "0" "c.689A>G" "r.(?)" "p.(Tyr230Cys)" "5" "0000497979" "00001876" "90" "704" "0" "704" "0" "c.704C>T" "r.(?)" "p.(Ala235Val)" "5" "0000497980" "00001876" "90" "761" "0" "761" "0" "c.761C>T" "r.(?)" "p.(Pro254Leu)" "5" "0000497981" "00001876" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "6" "0000497982" "00001876" "90" "985" "0" "985" "0" "c.985A>T" "r.(?)" "p.(Lys329*)" "6" "0000497983" "00001876" "90" "1012" "-2" "1012" "-2" "c.1012-2A>G" "r.spl" "p.?" "6i" "0000497984" "00001876" "90" "1032" "0" "1032" "0" "c.1032C>G" "r.(?)" "p.(Tyr344*)" "7" "0000497985" "00001876" "90" "1049" "0" "1049" "0" "c.1049A>G" "r.(?)" "p.(Glu350Gly)" "7" "0000497986" "00001876" "90" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Tyr356*)" "7" "0000497987" "00001876" "90" "1079" "0" "1079" "0" "c.1079T>C" "r.(?)" "p.(Val360Ala)" "7" "0000497988" "00001876" "90" "1085" "0" "1085" "0" "c.1085del" "r.(?)" "p.(Leu362Argfs*26)" "7" "0000497989" "00001876" "90" "1096" "0" "1096" "0" "c.1096C>T" "r.(?)" "p.(Leu366Phe)" "7" "0000497990" "00001876" "90" "1112" "0" "1112" "0" "c.1112C>T" "r.(?)" "p.(Thr371Ile)" "7" "0000497991" "00001876" "90" "1120" "0" "1120" "0" "c.1120C>T" "r.(?)" "p.(Gln374*)" "7" "0000497992" "00001876" "90" "1138" "0" "1138" "0" "c.1138del" "r.(?)" "p.(Ala380Profs*8)" "7" "0000497993" "00001876" "90" "1150" "0" "1159" "0" "c.1150_1159del" "r.(?)" "p.(Gly384*)" "7" "0000497994" "00001876" "90" "1332" "1" "1332" "1" "c.1332+1G>A" "r.spl" "p.?" "8i" "0000497995" "00001876" "90" "1332" "3" "1332" "3" "c.1332+3A>G" "r.spl?" "p.?" "8i" "0000497996" "00001876" "90" "1333" "-1" "1671" "1" "c.(1332+1_1333-1)_(1671+1_1672-1)dup" "r.?" "p.?" "" "0000497997" "00001876" "90" "1337" "0" "1338" "0" "c.1337_1338dup" "r.(?)" "p.(Val447Leufs*4)" "9" "0000497998" "00001876" "90" "1467" "6" "1467" "6" "c.1467+6T>G" "r.spl?" "p.(=)" "9i" "0000497999" "00001876" "90" "1468" "-48" "1468" "-48" "c.1468-48G>A" "r.spl?" "p.(=)" "9i" "0000498000" "00001876" "90" "1497" "0" "1497" "0" "c.1497dup" "r.(?)" "p.(Asn500Glnfs*122)" "10" "0000498001" "00001876" "90" "1513" "0" "1513" "0" "c.1513G>C" "r.(?)" "p.(Gly505Arg)" "10" "0000498002" "00001876" "90" "1607" "0" "1607" "0" "c.1607T>C" "r.(?)" "p.(Phe536Ser)" "10" "0000498003" "00001876" "90" "1631" "-2" "1631" "-2" "c.1631-2A>T" "r.spl" "p.?" "10i" "0000498004" "00001876" "90" "1672" "-20" "1672" "-20" "c.1672-20A>T" "r.spl?" "p.(=)" "11i" "0000498005" "00001876" "90" "1683" "0" "1687" "0" "c.1683_1687del" "r.(?)" "p.(Hiss562Glnfs*58)" "12" "0000498006" "00001876" "90" "1731" "0" "1731" "0" "c.1731T>C" "r.(?)" "p.(=)" "12" "0000498007" "00001876" "90" "1760" "0" "1760" "0" "c.1760T>A" "r.(?)" "p.(Val587Asp)" "12" "0000498008" "00001876" "90" "1780" "0" "1780" "0" "c.1780T>C" "r.(?)" "p.(Ser594Pro)" "12" "0000498009" "00001876" "90" "1826" "0" "1828" "0" "c.1826_1828delinsGG" "r.(?)" "p.(Lys609Argfs*2)" "13" "0000498010" "00001876" "90" "1836" "0" "1836" "0" "c.1836G>T" "r.(?)" "p.(Glu612Asp)" "13" "0000498011" "00001876" "90" "1924" "-2" "1924" "-2" "c.1924-2A>T" "r.spl" "p.?" "13i" "0000498012" "00001876" "90" "1960" "0" "1960" "0" "c.1960G>T" "r.(?)" "p.(Glu654*)" "14" "0000498013" "00001876" "90" "2041" "-2" "2041" "-2" "c.2041-2A>G" "r.spl" "p.?" "14i" "0000498014" "00001876" "90" "2041" "-1" "2041" "-1" "c.2041-1G>A" "r.spl" "p.?" "14i" "0000498015" "00001876" "90" "2113" "0" "2113" "0" "c.2113C>T" "r.(?)" "p.(Arg705*)" "15" "0000498016" "00001876" "90" "2116" "1" "2116" "1" "c.2116+1G>C" "r.spl" "p.?" "15i" "0000498017" "00001876" "90" "2137" "0" "2137" "0" "c.2137G>C" "r.(?)" "p.(Gly713Arg)" "16" "0000498018" "00001876" "90" "2140" "0" "2140" "0" "c.2140C>T" "r.(?)" "p.(Gln714*)" "16" "0000498019" "00001876" "90" "2143" "0" "2143" "0" "c.2143G>A" "r.(?)" "p.(Val715Met)" "16" "0000498020" "00001876" "90" "2185" "0" "2185" "0" "c.2185G>T" "r.(?)" "p.(Glu729*)" "16" "0000498021" "00001876" "90" "2222" "1" "2222" "1" "c.2222+1G>A" "r.spl" "p.?" "16i" "0000498022" "00001876" "90" "2266" "0" "2266" "0" "c.2266G>T" "r.(?)" "p.(Glu756*)" "18" "0000498023" "00001876" "90" "2295" "0" "2307" "0" "c.2295_2307delinsAA" "r.(?)" "p.(Arg766Serfs*21)" "19" "0000498024" "00001876" "90" "2298" "0" "2299" "0" "c.2298_2299del" "r.(?)" "p.(Gly767Profs*23)" "19" "0000498025" "00001876" "90" "2376" "0" "2376" "0" "c.2376del" "r.(?)" "p.(Phe793Serfs*71)" "19" "0000498026" "00001876" "90" "2394" "0" "2394" "0" "c.2394del" "r.(?)" "p.(Tyr798*)" "20" "0000498027" "00001876" "90" "2414" "0" "2414" "0" "c.2414G>A" "r.(?)" "p.(Cys805Tyr)" "20" "0000498028" "00001876" "90" "2429" "0" "2429" "0" "c.2429A>T" "r.(?)" "p.(Asp810Val)" "20" "0000498029" "00001876" "90" "2476" "-1" "2476" "-1" "c.2476-1G>A" "r.spl" "p.?" "20i" "0000498030" "00001876" "90" "2477" "0" "2477" "0" "c.2477del" "r.(?)" "p.(Gly826Alafs*38)" "21" "0000498031" "00001876" "90" "2521" "0" "2521" "0" "c.2521del" "r.(?)" "p.(Arg841Glufs*23)" "21" "0000498032" "00001876" "90" "2522" "0" "2522" "0" "c.2522G>C" "r.(?)" "p.(Arg841Pro)" "21" "0000498033" "00001876" "90" "2556" "3" "2556" "15" "c.2556+3_2556+15delinsCCTGGGGTCCTTGT" "r.spl?" "p.?" "21i" "0000498034" "00001876" "90" "2557" "-1" "2557" "-1" "c.2557-1G>A" "r.spl" "p.?" "21i" "0000498035" "00001876" "90" "2557" "-1" "3329" "1" "c.(2556+1_2557-1)_(3329+1_3330-1)del" "r.?" "p.?" "" "0000498036" "00001876" "90" "2671" "0" "2671" "0" "c.2671C>T" "r.(?)" "p.(Gln891*)" "22" "0000498037" "00001876" "90" "2672" "0" "2676" "0" "c.2672_2676del" "r.(?)" "p.(Gln891Profs*28)" "22" "0000498038" "00001876" "90" "2731" "0" "2731" "0" "c.2731G>C" "r.(?)" "p.(Gly911Arg)" "23" "0000498039" "00001876" "90" "2812" "0" "2812" "0" "c.2812del" "r.(?)" "p.(Leu938Trpfs*104)" "23" "0000498040" "00001876" "90" "2820" "1" "2820" "1" "c.2820+1G>A" "r.spl" "p.?" "23i" "0000498041" "00001876" "90" "2866" "0" "2866" "0" "c.2866del" "r.(?)" "p.(Ser956Leufs*86)" "24" "0000498042" "00001876" "90" "2914" "0" "2914" "0" "c.2914del" "r.(?)" "p.(Glu972Argfs*70)" "24" "0000498043" "00001876" "90" "2918" "0" "2918" "0" "c.2918A>G" "r.(?)" "p.(Glu973Gly)" "24" "0000498044" "00001876" "90" "2921" "-1" "2921" "-1" "c.2921-1G>A" "r.spl" "p.?" "24i" "0000498045" "00001876" "90" "3162" "2" "3162" "2" "c.3162+2T>A" "r.spl" "p.?" "25i" "0000498046" "00001876" "90" "3163" "-1" "3163" "-1" "c.3163-1G>A" "r.spl" "p.?" "25i" "0000498047" "00001876" "90" "3178" "0" "3178" "0" "c.3178C>T" "r.(?)" "p.(Gln1060*)" "26" "0000498048" "00001876" "90" "3234" "0" "3234" "0" "c.3234C>A" "r.(?)" "p.(Cys1078*)" "26" "0000498049" "00001876" "90" "3290" "0" "3290" "0" "c.3290A>G" "r.(?)" "p.(His1097Arg)" "26" "0000498050" "00001876" "90" "3324" "0" "3324" "0" "c.3324dup" "r.(?)" "p.(Met1109Hisfs*5)" "26" "0000498051" "00001876" "90" "3397" "0" "3397" "0" "c.3397C>T" "r.(?)" "p.(Gln1133*)" "27" "0000498052" "00001876" "90" "3398" "0" "3398" "0" "c.3398A>G" "r.(?)" "p.(Gln1133Arg)" "27" "0000498053" "00001876" "90" "3400" "-1" "3650" "1" "c.(3399+1_3400-1)_(3650+1_3651-1)del" "r.?" "p.?" "27i_29i" "0000498054" "00001876" "90" "3407" "0" "3411" "0" "c.3407_3411dup" "r.(?)" "p.(Thr1138Hisfs*7)" "28" "0000498055" "00001876" "90" "3418" "0" "3418" "0" "c.3418G>T" "r.(?)" "p.(Glu1140*)" "28" "0000498056" "00001876" "90" "3419" "0" "3419" "0" "c.3419A>G" "r.(?)" "p.(Glu1140Gly)" "28" "0000498057" "00001876" "90" "3447" "0" "3447" "0" "c.3447T>A" "r.(?)" "p.(Cys1149*)" "28" "0000498058" "00001876" "90" "3455" "0" "3455" "0" "c.3455C>T" "r.(?)" "p.(Ala1152Val)" "28" "0000498059" "00001876" "90" "3455" "0" "3455" "0" "c.3455C>G" "r.(?)" "p.(Ala1152Gly)" "28" "0000498060" "00001876" "90" "3540" "0" "3540" "0" "c.3540C>A" "r.(?)" "p.(Tyr1180*)" "28" "0000498061" "00001876" "90" "3543" "0" "3543" "0" "c.3543C>A" "r.(?)" "p.(Phe1181Leu)" "28" "0000498062" "00001876" "90" "3557" "1" "3557" "1" "c.3557+1G>A" "r.spl" "p.?" "28i" "0000498063" "00001876" "90" "3578" "0" "3578" "0" "c.3578A>T" "r.(?)" "p.(Asp1193Val)" "29" "0000498064" "00001876" "90" "3592" "0" "3592" "0" "c.3592C>T" "r.(?)" "p.(Pro1198Ser)" "29" "0000498065" "00001876" "90" "3593" "0" "3593" "0" "c.3593C>A" "r.(?)" "p.(Pro1198Gln)" "29" "0000498066" "00001876" "90" "3597" "0" "3601" "0" "c.3597_3601del" "r.(?)" "p.(Leu1200Thrfs*18)" "29" "0000498067" "00001876" "90" "3650" "2" "3650" "2" "c.3650+2T>A" "r.spl" "p.?" "29i" "0000498068" "00001876" "90" "3754" "-17" "3820" "0" "c.3754-17_3820del" "r.spl" "p.?" "30i_31" "0000498069" "00001876" "90" "3754" "0" "3754" "0" "c.3754G>T" "r.(?)" "p.(Glu1252*)" "31" "0000498070" "00001876" "90" "3797" "0" "3797" "0" "c.3797C>T" "r.(?)" "p.(Ser1266Phe)" "31" "0000498071" "00001876" "90" "3824" "0" "3824" "0" "c.3824T>C" "r.(?)" "p.(Leu1275Pro)" "31" "0000498072" "00001876" "90" "3841" "0" "3842" "0" "c.3841_3842dup" "r.(?)" "p.(Leu1282Alafs*8)" "31" "0000498073" "00001876" "90" "3858" "0" "3858" "0" "c.3858C>A" "r.(?)" "p.(Tyr1286*)" "31" "0000498074" "00001876" "90" "3867" "0" "3867" "0" "c.3867G>T" "r.(?)" "p.(Met1289Ile)" "31" "0000498075" "00001876" "90" "3868" "-2" "3868" "-2" "c.3868-2A>G" "r.spl" "p.?" "31i" "0000498076" "00001876" "90" "3880" "0" "3880" "0" "c.3880C>T" "r.(?)" "p.(Leu1294Phe)" "32" "0000498077" "00001876" "90" "3967" "0" "3967" "0" "c.3967G>T" "r.(?)" "p.(Glu1323*)" "32" "0000498078" "00001876" "90" "3975" "0" "3975" "0" "c.3975del" "r.(?)" "p.(Tyr1325*)" "32" "0000498079" "00001876" "90" "3976" "0" "3976" "0" "c.3976G>T" "r.(?)" "p.(Glu1326*)" "32" "0000498080" "00001876" "90" "3988" "1" "3988" "1" "c.3988+1G>A" "r.spl" "p.?" "32i" "0000498081" "00001876" "90" "3995" "0" "3995" "0" "c.3995C>A" "r.(?)" "p.(Ser1332*)" "33" "0000498082" "00001876" "90" "4036" "0" "4036" "0" "c.4036A>T" "r.(?)" "p.(Ile1346Phe)" "33" "0000498083" "00001876" "90" "4042" "0" "4058" "0" "c.4042_4058delinsT" "r.(?)" "p.(Asn1348Serfs*5)" "33" "0000498084" "00001876" "90" "4136" "0" "4136" "0" "c.4136G>C" "r.(?)" "p.(Arg1379Pro)" "34" "0000498085" "00001876" "90" "4139" "0" "4139" "0" "c.4139C>A" "r.(?)" "p.(Thr1380Asn)" "34" "0000498086" "00001876" "90" "4198" "0" "4198" "0" "c.4198G>T" "r.(?)" "p.(Gly1400Trp)" "34" "0000498087" "00001876" "90" "4198" "1" "4198" "1" "c.4198+1G>C" "r.spl" "p.?" "34i" "0000498088" "00001876" "90" "4200" "0" "4200" "0" "c.4200del" "r.(?)" "p.(His1401Thrfs*59)" "35" "0000498089" "00001876" "90" "4209" "0" "4211" "0" "c.4209_4211del" "r.(?)" "p.(Ile1404del)" "35" "0000498090" "00001876" "90" "4264" "0" "4264" "0" "c.4264T>C" "r.(?)" "p.(Ser1422Pro)" "35" "0000498092" "00001876" "90" "4265" "0" "4265" "0" "c.4265C>G" "r.(?)" "p.(Ser1422Cys)" "35" "0000498093" "00001876" "90" "4279" "0" "4295" "0" "c.4279_4295del" "r.(?)" "p.(Asp1427Argfs*6)" "35" "0000498094" "00001876" "90" "4283" "0" "4290" "0" "c.4283_4290del" "r.(?)" "p.(Pro1428Leufs*8)" "35" "0000498095" "00001876" "90" "4307" "1" "4307" "1" "c.4307+1G>A" "r.spl" "p.?" "35i" "0000498096" "00001876" "90" "4308" "-1" "4308" "-1" "c.4308-1G>T" "r.spl" "p.?" "35i" "0000498097" "00001876" "90" "4353" "0" "4353" "0" "c.4353G>C" "r.(?)" "p.(Trp1451Cys)" "36" "0000498098" "00001876" "90" "4412" "-1" "4747" "0" "c.(4411+1_4412-1)_(*1_?)del" "r.?" "p.?" "36i_39_" "0000498099" "00001876" "90" "4451" "0" "4451" "0" "c.4451G>T" "r.(?)" "p.(Gly1484Val)" "37" "0000498100" "00001876" "90" "4453" "0" "4453" "0" "c.4453C>T" "r.(?)" "p.(Gln1485*)" "37" "0000498101" "00001876" "90" "4460" "0" "4460" "0" "c.4460A>G" "r.(?)" "p.(Gln1487Arg)" "37" "0000498102" "00001876" "90" "4468" "0" "4468" "0" "c.4468del" "r.(?)" "p.(Cys1490Alafs*7)" "37" "0000498103" "00001876" "90" "4511" "0" "4511" "0" "c.4511T>C" "r.(?)" "p.(Met1504Thr)" "37" "0000498104" "00001876" "90" "4513" "0" "4513" "0" "c.4513G>A" "r.(?)" "p.(Asp1505Asn)" "37" "0000498105" "00001876" "90" "4516" "0" "4536" "0" "c.4516_4536dup" "r.(?)" "p.(Glu1506_Asp1512dup)" "37" "0000498106" "00001876" "90" "4545" "1" "4545" "1" "c.4545+1G>C" "r.spl" "p.?" "37i" "0000498107" "00001876" "90" "4608" "4" "4608" "4" "c.4608+4A>G" "r.spl?" "p.?" "38i" "0000498108" "00001876" "90" "4609" "-1" "4609" "-1" "c.4609-1G>T" "r.spl" "p.?" "38i" "0000498109" "00001876" "90" "4612" "0" "4612" "0" "c.4612C>T" "r.(?)" "p.(Arg1538*)" "39" "0000498110" "00001876" "90" "4615" "0" "4615" "0" "c.4615G>A" "r.(?)" "p.(Val1539Met)" "39" "0000498111" "00001876" "90" "4658" "0" "4658" "0" "c.4658G>A" "r.(?)" "p.(Arg1553Gln)" "39" "0000498112" "00001876" "90" "4672" "0" "4672" "0" "c.4672G>T" "r.(?)" "p.(Glu1558*)" "39" "0000498113" "00001876" "90" "4713" "0" "4713" "0" "c.4713C>A" "r.(?)" "p.(Ser1571Arg)" "39" "0000498114" "00001876" "90" "4731" "0" "4734" "0" "c.4731_4734del" "r.(?)" "p.(Arg1578Glnfs*?)" "39" "0000543112" "00001876" "50" "9737" "0" "9737" "0" "c.*4991G>T" "r.(=)" "p.(=)" "" "0000543114" "00001876" "50" "4729" "0" "4729" "0" "c.4729G>A" "r.(?)" "p.(Val1577Ile)" "" "0000543115" "00001876" "30" "4719" "0" "4719" "0" "c.4719C>T" "r.(?)" "p.(Phe1573=)" "" "0000543117" "00001876" "30" "4703" "0" "4703" "0" "c.4703G>A" "r.(?)" "p.(Arg1568Gln)" "" "0000543119" "00001876" "50" "4624" "0" "4624" "0" "c.4624A>T" "r.(?)" "p.(Ile1542Phe)" "" "0000543120" "00001876" "30" "4609" "-12" "4609" "-12" "c.4609-12T>A" "r.(=)" "p.(=)" "" "0000543121" "00001876" "30" "4609" "-15" "4609" "-15" "c.4609-15T>A" "r.(=)" "p.(=)" "" "0000543124" "00001876" "30" "4563" "0" "4563" "0" "c.4563G>T" "r.(?)" "p.(Lys1521Asn)" "" "0000543125" "00001876" "50" "4544" "0" "4544" "0" "c.4544C>T" "r.(?)" "p.(Thr1515Met)" "" "0000543126" "00001876" "30" "4485" "0" "4485" "0" "c.4485C>T" "r.(?)" "p.(Phe1495=)" "" "0000543130" "00001876" "30" "4239" "0" "4239" "0" "c.4239G>T" "r.(?)" "p.(Pro1413=)" "" "0000543135" "00001876" "30" "4119" "18" "4119" "18" "c.4119+18A>G" "r.(=)" "p.(=)" "" "0000543138" "00001876" "30" "3867" "7" "3867" "7" "c.3867+7G>A" "r.(=)" "p.(=)" "" "0000543140" "00001876" "70" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Val1259Met)" "" "0000543142" "00001876" "90" "3544" "0" "3544" "0" "c.3544C>T" "r.(?)" "p.(Arg1182Trp)" "" "0000543143" "00001876" "50" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Val1173Met)" "" "0000543144" "00001876" "50" "3473" "0" "3473" "0" "c.3473A>G" "r.(?)" "p.(Tyr1158Cys)" "" "0000543146" "00001876" "30" "3399" "12" "3399" "12" "c.3399+12C>T" "r.(=)" "p.(=)" "" "0000543147" "00001876" "30" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "" "0000543148" "00001876" "30" "3154" "0" "3154" "0" "c.3154C>T" "r.(?)" "p.(Leu1052Phe)" "" "0000543149" "00001876" "50" "3088" "0" "3088" "0" "c.3088G>A" "r.(?)" "p.(Asp1030Asn)" "" "0000543150" "00001876" "30" "2980" "0" "2980" "0" "c.2980G>A" "r.(?)" "p.(Glu994Lys)" "" "0000543151" "00001876" "90" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Gln953Ter)" "" "0000543153" "00001876" "10" "2695" "-20" "2695" "-20" "c.2695-20G>A" "r.(=)" "p.(=)" "" "0000543154" "00001876" "30" "2610" "0" "2610" "0" "c.2610C>T" "r.(?)" "p.(Ala870=)" "" "0000543155" "00001876" "30" "2490" "0" "2490" "0" "c.2490T>C" "r.(?)" "p.(Ser830=)" "" "0000543159" "00001876" "30" "2390" "17" "2390" "17" "c.2390+17G>C" "r.(=)" "p.(=)" "" "0000543162" "00001876" "30" "2291" "8" "2291" "8" "c.2291+8G>A" "r.(=)" "p.(=)" "" "0000543164" "00001876" "30" "2250" "0" "2250" "0" "c.2250C>A" "r.(?)" "p.(Asp750Glu)" "" "0000543166" "00001876" "30" "2176" "0" "2176" "0" "c.2176G>A" "r.(?)" "p.(Ala726Thr)" "" "0000543169" "00001876" "30" "2041" "-12" "2041" "-12" "c.2041-12C>T" "r.(=)" "p.(=)" "" "0000543170" "00001876" "50" "1958" "0" "1958" "0" "c.1958G>A" "r.(?)" "p.(Arg653Gln)" "" "0000543172" "00001876" "30" "1923" "10" "1923" "10" "c.1923+10C>T" "r.(=)" "p.(=)" "" "0000543173" "00001876" "30" "1923" "3" "1923" "3" "c.1923+3G>A" "r.spl?" "p.?" "" "0000543175" "00001876" "30" "1874" "0" "1874" "0" "c.1874C>T" "r.(?)" "p.(Ala625Val)" "" "0000543176" "00001876" "30" "1818" "-6" "1818" "-6" "c.1818-6G>A" "r.(=)" "p.(=)" "" "0000543177" "00001876" "30" "1818" "-15" "1818" "-15" "c.1818-15G>C" "r.(=)" "p.(=)" "" "0000543180" "00001876" "30" "1672" "-6" "1672" "-6" "c.1672-6C>A" "r.(=)" "p.(=)" "" "0000543183" "00001876" "50" "1511" "0" "1511" "0" "c.1511G>A" "r.(?)" "p.(Arg504His)" "" "0000543187" "00001876" "50" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Ala355Thr)" "" "0000543189" "00001876" "70" "938" "0" "938" "0" "c.938G>A" "r.(?)" "p.(Gly313Asp)" "" "0000543190" "00001876" "30" "793" "0" "793" "0" "c.793C>A" "r.(?)" "p.(Arg265=)" "" "0000543191" "00001876" "50" "760" "0" "760" "0" "c.760C>A" "r.(?)" "p.(Pro254Thr)" "" "0000543192" "00001876" "30" "750" "0" "750" "0" "c.750C>T" "r.(?)" "p.(Ile250=)" "" "0000543194" "00001876" "90" "655" "0" "655" "0" "c.655C>T" "r.(?)" "p.(Gln219Ter)" "" "0000543195" "00001876" "50" "616" "0" "616" "0" "c.616C>T" "r.(?)" "p.(Pro206Ser)" "" "0000543197" "00001876" "50" "517" "0" "517" "0" "c.517G>A" "r.(?)" "p.(Gly173Arg)" "" "0000543198" "00001876" "50" "502" "0" "502" "0" "c.502C>T" "r.(?)" "p.(Arg168Cys)" "" "0000543201" "00001876" "10" "330" "0" "330" "0" "c.330C>T" "r.(?)" "p.(Ala110=)" "" "0000543204" "00001876" "30" "262" "0" "262" "0" "c.262G>A" "r.(?)" "p.(Glu88Lys)" "" "0000543206" "00001876" "50" "91" "0" "91" "0" "c.91C>T" "r.(?)" "p.(Leu31Phe)" "" "0000613199" "00001876" "30" "9831" "0" "9831" "0" "c.*5085G>A" "r.(=)" "p.(=)" "" "0000613200" "00001876" "50" "9712" "0" "9712" "0" "c.*4966A>G" "r.(=)" "p.(=)" "" "0000613201" "00001876" "50" "4105" "0" "4105" "0" "c.4105G>T" "r.(?)" "p.(Ala1369Ser)" "" "0000613202" "00001876" "10" "2820" "17" "2820" "17" "c.2820+17A>G" "r.(=)" "p.(=)" "" "0000613203" "00001876" "30" "2255" "12" "2255" "12" "c.2255+12G>A" "r.(=)" "p.(=)" "" "0000613204" "00001876" "50" "2117" "-3" "2117" "-3" "c.2117-3C>T" "r.spl?" "p.?" "" "0000613205" "00001876" "10" "579" "14" "579" "14" "c.579+14C>T" "r.(=)" "p.(=)" "" "0000613206" "00001876" "10" "207" "0" "207" "0" "c.207T>C" "r.(?)" "p.(Pro69=)" "" "0000648167" "00001876" "70" "4564" "0" "4564" "0" "c.4564G>A" "r.(?)" "p.(Val1522Met)" "" "0000648168" "00001876" "90" "3544" "0" "3544" "0" "c.3544C>T" "r.(?)" "p.(Arg1182Trp)" "" "0000648169" "00001876" "30" "2277" "0" "2277" "0" "c.2277C>T" "r.(=)" "p.(=)" "" "0000648171" "00001876" "30" "2060" "0" "2060" "0" "c.2060C>T" "r.(?)" "p.(Thr687Met)" "" "0000648172" "00001876" "50" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Cys)" "" "0000648173" "00001876" "70" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Gly111Arg)" "" "0000653538" "00001876" "50" "4486" "0" "4486" "0" "c.4486G>A" "r.(?)" "p.(Val1496Met)" "" "0000656744" "00001876" "50" "3819" "0" "3819" "0" "c.3819G>A" "r.(?)" "p.(Arg1273=)" "" "0000656745" "00001876" "50" "1919" "0" "1919" "0" "c.1919C>T" "r.(?)" "p.(Ala640Val)" "" "0000656746" "00001876" "10" "1686" "0" "1686" "0" "c.1686C>T" "r.(?)" "p.(His562=)" "" "0000673554" "00001876" "70" "1671" "2" "1671" "2" "c.1671+2T>C" "r.spl?" "p.?" "" "0000673569" "00001876" "70" "2348" "0" "2348" "0" "c.2348T>G" "r.(?)" "p.(Val783Gly)" "" "0000673570" "00001876" "70" "3124" "0" "3126" "0" "c.3124_3126delinsCAGCCAGGAACTG" "r.(?)" "p.(Thr1042Glnfs*75)" "" "0000673571" "00001876" "70" "4412" "-13" "4412" "-13" "c.4412-13G>A" "r.(=)" "p.(=)" "" "0000673572" "00001876" "90" "2992" "0" "2992" "0" "c.2992C>T" "r.(?)" "p.(Arg998*)" "" "0000673932" "00001876" "90" "2553" "0" "2555" "0" "c.2553_2555del" "r.(?)" "p.(Phe851del)" "" "0000673933" "00001876" "90" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" "" "0000673949" "00001876" "90" "2475" "1" "2475" "1" "c.2475+1G>A" "r.spl?" "p.?" "" "0000673950" "00001876" "90" "4460" "0" "4463" "0" "c.4460_4463dup" "r.(?)" "p.(Phe1489Alafs*25)" "" "0000690999" "00001876" "70" "4477" "0" "4477" "0" "c.4477C>T" "r.(?)" "p.(Arg1493Trp)" "" "0000691000" "00001876" "50" "3203" "0" "3203" "0" "c.3203C>T" "r.(?)" "p.(Thr1068Met)" "" "0000691001" "00001876" "70" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Gln953Ter)" "" "0000691002" "00001876" "30" "2176" "0" "2176" "0" "c.2176G>A" "r.(?)" "p.(Ala726Thr)" "" "0000691003" "00001876" "10" "1333" "-1186" "1333" "-1186" "c.1333-1186T>G" "r.(=)" "p.(=)" "" "0000704534" "00001876" "30" "1332" "4" "1332" "4" "c.1332+4del" "r.spl?" "p.?" "8i" "0000704535" "00001876" "70" "2051" "0" "2051" "0" "c.2051G>A" "r.(?)" "p.(Gly684Asp)" "e15" "0000704536" "00001876" "90" "1467" "6" "1467" "6" "c.1467+6T>G" "r.spl?" "p.?" "9i" "0000704537" "00001876" "50" "4731" "0" "4734" "0" "c.4731_4734del" "r.?" "p.?" "39" "0000704540" "00001876" "70" "1923" "5" "1923" "5" "c.1923+5G>T" "r.spl?" "p.?" "13i" "0000704546" "00001876" "30" "2041" "-12" "2041" "-12" "c.2041-12C>T" "r.(?)" "p.?" "14i" "0000704551" "00001876" "70" "2921" "-9" "2921" "-9" "c.2921-9G>A" "r.spl?" "p.?" "24i" "0000704552" "00001876" "70" "4723" "0" "4723" "0" "c.4723T>C" "r.?" "p.?" "39" "0000704554" "00001876" "70" "2921" "-9" "2921" "-9" "c.2921-9G>A" "r.spl?" "p.?" "24i" "0000704557" "00001876" "70" "3751" "0" "3752" "0" "c.3751_3752del" "r.(?)" "p.?" "30" "0000704558" "00001876" "70" "3988" "2" "3988" "15" "c.3988+2_3988+15del" "r.spl?" "p.?" "32i" "0000704561" "00001876" "90" "2585" "0" "2588" "0" "c.2585_2588del" "r.(?)" "p.(His862Argfs*5)" "22" "0000704562" "00001876" "70" "3989" "-3" "3989" "-3" "c.3989-3C>G" "r.spl?" "p.?" "32i" "0000704567" "00001876" "70" "2731" "0" "2731" "0" "c.2731G>C" "r.(?)" "p.?" "23" "0000704570" "00001876" "70" "4412" "-13" "4412" "-13" "c.4412-13G>A" "r.spl?" "p.?" "36i" "0000704574" "00001876" "70" "4608" "0" "4608" "0" "c.4608G>A" "r.spl?" "p.?" "38" "0000723322" "00001876" "50" "4608" "0" "4608" "0" "c.4608G>A" "r.(?)" "p.(Ala1536=)" "" "0000723323" "00001876" "70" "4412" "-13" "4412" "-13" "c.4412-13G>A" "r.(=)" "p.(=)" "" "0000723324" "00001876" "50" "4051" "0" "4051" "0" "c.4051G>A" "r.(?)" "p.(Val1351Met)" "" "0000723325" "00001876" "30" "3658" "0" "3658" "0" "c.3658G>A" "r.(?)" "p.(Ala1220Thr)" "" "0000723326" "00001876" "50" "3292" "0" "3292" "0" "c.3292C>T" "r.(?)" "p.(Arg1098Cys)" "" "0000723327" "00001876" "30" "3087" "0" "3087" "0" "c.3087C>A" "r.(?)" "p.(Ile1029=)" "" "0000723328" "00001876" "50" "2929" "0" "2929" "0" "c.2929G>A" "r.(?)" "p.(Ala977Thr)" "" "0000723330" "00001876" "70" "2144" "0" "2144" "0" "c.2144T>C" "r.(?)" "p.(Val715Ala)" "" "0000723331" "00001876" "90" "1337" "0" "1338" "0" "c.1337_1338dup" "r.(?)" "p.(Val447LeufsTer4)" "" "0000723332" "00001876" "50" "1063" "0" "1063" "0" "c.1063G>A" "r.(?)" "p.(Ala355Thr)" "" "0000723333" "00001876" "30" "823" "-4" "823" "-4" "c.823-4G>A" "r.spl?" "p.?" "" "0000765234" "00001876" "90" "0" "0" "0" "0" "c.-126_(2556+1_2557-1){0}" "r.0?" "p.0?" "_1_22i" "0000765235" "00001876" "90" "0" "0" "0" "0" "c.-126_(2556+1_2557-1){0}" "r.0?" "p.0?" "_1_22i" "0000787185" "00001876" "50" "1785" "0" "1785" "0" "c.1785T>A" "r.(?)" "p.(Ser595Arg)" "12" "0000805030" "00001876" "50" "3517" "0" "3517" "0" "c.3517G>A" "r.(?)" "p.(Val1173Met)" "" "0000805031" "00001876" "50" "1924" "-17" "1924" "-17" "c.1924-17C>T" "r.(=)" "p.(=)" "" "0000805032" "00001876" "30" "1858" "0" "1858" "0" "c.1858C>T" "r.(?)" "p.(Arg620Cys)" "" "0000805033" "00001876" "50" "1616" "0" "1616" "0" "c.1616A>G" "r.(?)" "p.(Tyr539Cys)" "" "0000805034" "00001876" "30" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486Gln)" "" "0000821027" "00001876" "70" "1069" "0" "1069" "0" "c.1069G>A" "r.(?)" "p.(Val357Ile)" "" "0000852838" "00001876" "50" "4498" "0" "4498" "0" "c.4498A>G" "r.(?)" "p.(Ser1500Gly)" "" "0000852839" "00001876" "50" "3574" "0" "3574" "0" "c.3574G>C" "r.(?)" "p.(Asp1192His)" "" "0000852840" "00001876" "10" "2292" "-34" "2292" "-34" "c.2292-34T>C" "r.(=)" "p.(=)" "" "0000852841" "00001876" "30" "2292" "-36" "2292" "-36" "c.2292-36C>T" "r.(=)" "p.(=)" "" "0000852842" "00001876" "50" "2176" "0" "2176" "0" "c.2176G>A" "r.(?)" "p.(Ala726Thr)" "" "0000852843" "00001876" "30" "892" "0" "892" "0" "c.892C>T" "r.(?)" "p.(Arg298Cys)" "" "0000862395" "00001876" "50" "9775" "0" "9775" "0" "c.*5029G>A" "r.(=)" "p.(=)" "" "0000862396" "00001876" "30" "9682" "0" "9682" "0" "c.*4936G>A" "r.(=)" "p.(=)" "" "0000862397" "00001876" "50" "9660" "0" "9660" "0" "c.*4914G>C" "r.(=)" "p.(=)" "" "0000862398" "00001876" "50" "9656" "0" "9656" "0" "c.*4910G>A" "r.(=)" "p.(=)" "" "0000862399" "00001876" "30" "4647" "0" "4647" "0" "c.4647C>T" "r.(?)" "p.(Ile1549=)" "" "0000862400" "00001876" "10" "4609" "-7" "4609" "-7" "c.4609-7T>A" "r.(=)" "p.(=)" "" "0000862401" "00001876" "70" "4608" "0" "4608" "0" "c.4608G>A" "r.(?)" "p.(Ala1536=)" "" "0000862402" "00001876" "30" "4545" "14" "4545" "14" "c.4545+14C>T" "r.(=)" "p.(=)" "" "0000862403" "00001876" "30" "4545" "13" "4545" "13" "c.4545+13C>T" "r.(=)" "p.(=)" "" "0000862404" "00001876" "30" "4515" "0" "4515" "0" "c.4515C>T" "r.(?)" "p.(Asp1505=)" "" "0000862405" "00001876" "30" "4411" "9" "4411" "9" "c.4411+9T>C" "r.(=)" "p.(=)" "" "0000862406" "00001876" "30" "4368" "0" "4368" "0" "c.4368C>T" "r.(?)" "p.(Ile1456=)" "" "0000862407" "00001876" "70" "4351" "0" "4351" "0" "c.4351T>C" "r.(?)" "p.(Trp1451Arg)" "" "0000862408" "00001876" "30" "4239" "0" "4239" "0" "c.4239G>T" "r.(?)" "p.(Pro1413=)" "" "0000862409" "00001876" "30" "4194" "0" "4194" "0" "c.4194C>T" "r.(?)" "p.(Phe1398=)" "" "0000862410" "00001876" "70" "4055" "0" "4055" "0" "c.4055G>A" "r.(?)" "p.(Arg1352His)" "" "0000862411" "00001876" "30" "3951" "0" "3951" "0" "c.3951C>G" "r.(?)" "p.(Leu1317=)" "" "0000862412" "00001876" "50" "3749" "0" "3749" "0" "c.3749G>A" "r.(?)" "p.(Arg1250Gln)" "" "0000862413" "00001876" "30" "3732" "0" "3732" "0" "c.3732C>T" "r.(?)" "p.(Asn1244=)" "" "0000862414" "00001876" "30" "3558" "-8" "3558" "-8" "c.3558-8C>T" "r.(=)" "p.(=)" "" "0000862415" "00001876" "30" "3414" "0" "3414" "0" "c.3414G>A" "r.(?)" "p.(Thr1138=)" "" "0000862416" "00001876" "30" "3400" "-11" "3400" "-11" "c.3400-11G>A" "r.(=)" "p.(=)" "" "0000862417" "00001876" "70" "3242" "0" "3242" "0" "c.3242C>T" "r.(?)" "p.(Thr1081Met)" "" "0000862418" "00001876" "30" "3203" "0" "3203" "0" "c.3203C>T" "r.(?)" "p.(Thr1068Met)" "" "0000862419" "00001876" "30" "3171" "0" "3171" "0" "c.3171C>T" "r.(?)" "p.(Thr1057=)" "" "0000862420" "00001876" "30" "3162" "11" "3162" "11" "c.3162+11C>T" "r.(=)" "p.(=)" "" "0000862421" "00001876" "50" "3047" "0" "3047" "0" "c.3047T>C" "r.(?)" "p.(Val1016Ala)" "" "0000862422" "00001876" "30" "3039" "0" "3039" "0" "c.3039G>A" "r.(?)" "p.(Ser1013=)" "" "0000862423" "00001876" "50" "3038" "0" "3038" "0" "c.3038C>T" "r.(?)" "p.(Ser1013Leu)" "" "0000862424" "00001876" "50" "3019" "0" "3019" "0" "c.3019G>A" "r.(?)" "p.(Ala1007Thr)" "" "0000862425" "00001876" "30" "2929" "0" "2929" "0" "c.2929G>A" "r.(?)" "p.(Ala977Thr)" "" "0000862426" "00001876" "30" "2820" "15" "2820" "15" "c.2820+15G>C" "r.(=)" "p.(=)" "" "0000862427" "00001876" "50" "2798" "0" "2798" "0" "c.2798G>A" "r.(?)" "p.(Arg933Gln)" "" "0000862428" "00001876" "50" "2797" "0" "2797" "0" "c.2797C>G" "r.(?)" "p.(Arg933Gly)" "" "0000862429" "00001876" "50" "2779" "0" "2779" "0" "c.2779T>C" "r.(?)" "p.(Trp927Arg)" "" "0000862430" "00001876" "30" "2304" "0" "2304" "0" "c.2304C>T" "r.(?)" "p.(Pro768=)" "" "0000862431" "00001876" "30" "2264" "0" "2264" "0" "c.2264G>A" "r.(?)" "p.(Arg755Gln)" "" "0000862432" "00001876" "50" "2245" "0" "2245" "0" "c.2245G>C" "r.(?)" "p.(Glu749Gln)" "" "0000862433" "00001876" "30" "2170" "0" "2170" "0" "c.2170C>T" "r.(?)" "p.(Leu724=)" "" "0000862434" "00001876" "50" "2060" "0" "2060" "0" "c.2060C>G" "r.(?)" "p.(Thr687Arg)" "" "0000862435" "00001876" "50" "2023" "0" "2023" "0" "c.2023G>A" "r.(?)" "p.(Asp675Asn)" "" "0000862436" "00001876" "50" "1957" "0" "1957" "0" "c.1957C>T" "r.(?)" "p.(Arg653Trp)" "" "0000862437" "00001876" "30" "1903" "0" "1903" "0" "c.1903G>A" "r.(?)" "p.(Ala635Thr)" "" "0000862438" "00001876" "90" "1792" "0" "1792" "0" "c.1792C>T" "r.(?)" "p.(Arg598Ter)" "" "0000862439" "00001876" "30" "1785" "0" "1785" "0" "c.1785T>A" "r.(?)" "p.(Ser595Arg)" "" "0000862440" "00001876" "70" "1744" "0" "1744" "0" "c.1744C>T" "r.(?)" "p.(Leu582Phe)" "" "0000862441" "00001876" "50" "1738" "0" "1738" "0" "c.1738C>T" "r.(?)" "p.(Leu580Phe)" "" "0000862442" "00001876" "30" "1678" "0" "1678" "0" "c.1678G>A" "r.(?)" "p.(Val560Met)" "" "0000862443" "00001876" "30" "1630" "10" "1630" "10" "c.1630+10C>T" "r.(=)" "p.(=)" "" "0000862444" "00001876" "50" "1457" "0" "1457" "0" "c.1457G>A" "r.(?)" "p.(Arg486Gln)" "" "0000862445" "00001876" "50" "1307" "0" "1307" "0" "c.1307C>A" "r.(?)" "p.(Pro436Gln)" "" "0000862446" "00001876" "30" "927" "0" "927" "0" "c.927C>T" "r.(?)" "p.(Ala309=)" "" "0000862447" "00001876" "30" "823" "-8" "823" "-8" "c.823-8C>T" "r.(=)" "p.(=)" "" "0000862448" "00001876" "30" "765" "0" "765" "0" "c.765C>T" "r.(?)" "p.(Ile255=)" "" "0000862449" "00001876" "30" "735" "0" "735" "0" "c.735C>T" "r.(?)" "p.(Ile245=)" "" "0000862450" "00001876" "50" "647" "0" "647" "0" "c.647G>A" "r.(?)" "p.(Arg216His)" "" "0000862451" "00001876" "50" "620" "0" "620" "0" "c.620C>T" "r.(?)" "p.(Pro207Leu)" "" "0000862452" "00001876" "30" "487" "0" "487" "0" "c.487G>A" "r.(?)" "p.(Gly163Ser)" "" "0000862453" "00001876" "50" "413" "-5" "413" "-5" "c.413-5G>A" "r.spl?" "p.?" "" "0000862454" "00001876" "50" "389" "0" "389" "0" "c.389C>T" "r.(?)" "p.(Ser130Phe)" "" "0000862455" "00001876" "30" "343" "0" "343" "0" "c.343A>G" "r.(?)" "p.(Met115Val)" "" "0000862456" "00001876" "70" "309" "0" "327" "0" "c.309_327del" "r.(?)" "p.(His103Glnfs*28)" "" "0000862457" "00001876" "30" "291" "-5" "291" "-5" "c.291-5C>T" "r.spl?" "p.?" "" "0000889716" "00001876" "50" "9682" "0" "9682" "0" "c.*4936G>A" "r.(=)" "p.(=)" "" "0000889717" "00001876" "50" "4615" "0" "4615" "0" "c.4615G>A" "r.(?)" "p.(Val1539Met)" "" "0000889718" "00001876" "50" "4432" "0" "4432" "0" "c.4432G>A" "r.(?)" "p.(Gly1478Arg)" "" "0000889719" "00001876" "70" "4258" "0" "4258" "0" "c.4258C>T" "r.(?)" "p.(Arg1420Cys)" "" "0000889720" "00001876" "90" "3748" "0" "3748" "0" "c.3748C>T" "r.(?)" "p.(Arg1250*)" "" "0000889721" "00001876" "50" "3662" "0" "3662" "0" "c.3662G>A" "r.(?)" "p.(Arg1221Gln)" "" "0000889722" "00001876" "70" "3578" "0" "3578" "0" "c.3578A>T" "r.(?)" "p.(Asp1193Val)" "" "0000889723" "00001876" "30" "3400" "-12" "3400" "-12" "c.3400-12C>T" "r.(=)" "p.(=)" "" "0000889724" "00001876" "50" "3154" "0" "3154" "0" "c.3154C>T" "r.(?)" "p.(Leu1052Phe)" "" "0000889725" "00001876" "90" "2857" "0" "2857" "0" "c.2857C>T" "r.(?)" "p.(Gln953Ter)" "" "0000889726" "00001876" "30" "2391" "-6" "2391" "-6" "c.2391-6C>T" "r.(=)" "p.(=)" "" "0000889727" "00001876" "50" "1859" "0" "1859" "0" "c.1859G>A" "r.(?)" "p.(Arg620His)" "" "0000889728" "00001876" "30" "854" "0" "854" "0" "c.854G>A" "r.(?)" "p.(Arg285Gln)" "" "0000889729" "00001876" "30" "795" "0" "795" "0" "c.795G>T" "r.(?)" "p.(Arg265=)" "" "0000889730" "00001876" "30" "559" "0" "559" "0" "c.559G>A" "r.(?)" "p.(Val187Ile)" "" "0000889731" "00001876" "50" "443" "0" "443" "0" "c.443T>C" "r.(?)" "p.(Ile148Thr)" "" "0000889732" "00001876" "50" "272" "0" "272" "0" "c.272A>C" "r.(?)" "p.(Glu91Ala)" "" "0000913536" "00001876" "90" "4409" "0" "4409" "0" "c.4409del" "r.(?)" "p.(Leu1470Profs*27)" "" "0000913537" "00001876" "50" "4116" "0" "4116" "0" "c.4116G>A" "r.(?)" "p.(Gln1372=)" "" "0000913538" "00001876" "30" "3516" "0" "3516" "0" "c.3516C>T" "r.(?)" "p.(Ile1172=)" "" "0000913539" "00001876" "50" "3221" "0" "3221" "0" "c.3221G>T" "r.(?)" "p.(Gly1074Val)" "" "0000913540" "00001876" "30" "2634" "0" "2634" "0" "c.2634C>T" "r.(?)" "p.(Asp878=)" "" "0000913541" "00001876" "30" "2475" "16" "2475" "16" "c.2475+16T>A" "r.(=)" "p.(=)" "" "0000913542" "00001876" "50" "1848" "0" "1848" "0" "c.1848T>G" "r.(?)" "p.(Ser616Arg)" "" "0000913543" "00001876" "30" "1817" "20" "1817" "20" "c.1817+20G>A" "r.(=)" "p.(=)" "" "0000913544" "00001876" "50" "703" "0" "703" "0" "c.703G>A" "r.(?)" "p.(Ala235Thr)" "" "0000913545" "00001876" "50" "430" "0" "430" "0" "c.430A>G" "r.(?)" "p.(Thr144Ala)" "" "0000913546" "00001876" "50" "182" "0" "182" "0" "c.182A>G" "r.(?)" "p.(His61Arg)" "" "0000925348" "00001876" "50" "4325" "0" "4325" "0" "c.4325A>T" "r.(?)" "p.(Glu1442Val)" "" "0000925349" "00001876" "30" "1755" "0" "1755" "0" "c.1755C>A" "r.(?)" "p.(Ile585=)" "" "0000925350" "00001876" "30" "1486" "0" "1486" "0" "c.1486C>T" "r.(?)" "p.(Leu496=)" "" "0000925351" "00001876" "50" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Arg275Trp)" "" "0000925352" "00001876" "50" "256" "0" "256" "0" "c.256G>A" "r.(?)" "p.(Val86Met)" "" "0000929825" "00001876" "50" "4702" "0" "4702" "0" "c.4702C>T" "r.(?)" "p.(Arg1568Trp)" "" "0000929826" "00001876" "30" "4545" "9" "4545" "9" "c.4545+9T>C" "r.(=)" "p.(=)" "" "0000929827" "00001876" "50" "4435" "0" "4435" "0" "c.4435G>A" "r.(?)" "p.(Glu1479Lys)" "" "0000929828" "00001876" "30" "4412" "-14" "4412" "-14" "c.4412-14C>T" "r.(=)" "p.(=)" "" "0000929829" "00001876" "50" "2188" "0" "2188" "0" "c.2188A>G" "r.(?)" "p.(Met730Val)" "" "0000929830" "00001876" "30" "824" "0" "824" "0" "c.824G>A" "r.(?)" "p.(Arg275Gln)" "" "0000929831" "00001876" "50" "61" "0" "61" "0" "c.61G>A" "r.(?)" "p.(Val21Ile)" "" "0000949621" "00001876" "50" "4444" "0" "4444" "0" "c.4444A>G" "r.(?)" "p.(Ser1482Gly)" "" "0000949622" "00001876" "50" "4106" "0" "4106" "0" "c.4106C>T" "r.(?)" "p.(Ala1369Val)" "" "0000949623" "00001876" "50" "4060" "0" "4060" "0" "c.4060G>A" "r.(?)" "p.(Asp1354Asn)" "" "0000949624" "00001876" "30" "3989" "-10" "3989" "-10" "c.3989-10C>T" "r.(=)" "p.(=)" "" "0000949625" "00001876" "30" "3435" "0" "3435" "0" "c.3435C>T" "r.(?)" "p.(=)" "" "0000949626" "00001876" "50" "1942" "0" "1942" "0" "c.1942C>T" "r.(?)" "p.(Arg648Cys)" "" "0000949627" "00001876" "50" "1789" "0" "1789" "0" "c.1789G>A" "r.(?)" "p.(Val597Ile)" "" "0000949628" "00001876" "50" "1715" "0" "1715" "0" "c.1715C>T" "r.(?)" "p.(Ser572Leu)" "" "0000949629" "00001876" "50" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0000949630" "00001876" "50" "1534" "0" "1534" "0" "c.1534T>C" "r.(?)" "p.(Tyr512His)" "" "0000949631" "00001876" "30" "1242" "0" "1242" "0" "c.1242T>C" "r.(?)" "p.(=)" "" "0000949632" "00001876" "30" "1012" "-12" "1012" "-12" "c.1012-12T>C" "r.(=)" "p.(=)" "" "0000949633" "00001876" "30" "552" "0" "552" "0" "c.552C>T" "r.(?)" "p.(=)" "" "0000949634" "00001876" "30" "486" "0" "486" "0" "c.486C>T" "r.(?)" "p.(=)" "" "0000966242" "00001876" "50" "4680" "0" "4680" "0" "c.4680T>A" "r.(?)" "p.(Asp1560Glu)" "" "0000966246" "00001876" "90" "4135" "0" "4135" "0" "c.4135C>T" "r.(?)" "p.(Arg1379Cys)" "" "0000966250" "00001876" "50" "3775" "0" "3775" "0" "c.3775G>A" "r.(?)" "p.(Val1259Met)" "" "0000966251" "00001876" "30" "3480" "0" "3480" "0" "c.3480A>G" "r.(?)" "p.(=)" "" "0000966253" "00001876" "50" "2617" "0" "2617" "0" "c.2617C>T" "r.(?)" "p.(Leu873Phe)" "" "0000966259" "00001876" "50" "2024" "0" "2024" "0" "c.2024A>T" "r.(?)" "p.(Asp675Val)" "" "0000966264" "00001876" "50" "1562" "0" "1562" "0" "c.1562G>A" "r.(?)" "p.(Arg521Gln)" "" "0000966265" "00001876" "50" "1332" "11" "1332" "11" "c.1332+11G>C" "r.(=)" "p.(=)" "" "0000966267" "00001876" "50" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Cys418Arg)" "" "0000966273" "00001876" "50" "53" "0" "53" "0" "c.53A>C" "r.(?)" "p.(Asp18Ala)" "" "0000979484" "00001876" "50" "9785" "0" "9785" "0" "c.*5039A>G" "r.(=)" "p.(=)" "" "0000979485" "00001876" "30" "9711" "0" "9711" "0" "c.*4965C>T" "r.(=)" "p.(=)" "" "0000979486" "00001876" "30" "4119" "19" "4119" "19" "c.4119+19C>T" "r.(=)" "p.(=)" "" "0000979487" "00001876" "70" "3551" "0" "3551" "0" "c.3551C>T" "r.(?)" "p.(Ala1184Val)" "" "0000979488" "00001876" "30" "2117" "-18" "2117" "-18" "c.2117-18C>A" "r.(=)" "p.(=)" "" "0000979489" "00001876" "50" "1631" "-8" "1631" "-8" "c.1631-8C>G" "r.(=)" "p.(=)" "" "0000979490" "00001876" "30" "885" "0" "885" "0" "c.885C>T" "r.(?)" "p.(=)" "" "0000979491" "00001876" "30" "621" "0" "621" "0" "c.621C>A" "r.(?)" "p.(=)" "" "0000987569" "00001876" "90" "2506" "0" "2506" "0" "c.2506C>T" "r.(?)" "p.(Arg836*)" "21" "0000998911" "00001876" "50" "4195" "0" "4195" "0" "c.4195G>A" "r.(?)" "p.(Glu1399Lys)" "" "0000998912" "00001876" "50" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Gly1381Ser)" "" "0000998913" "00001876" "70" "4141" "0" "4141" "0" "c.4141G>A" "r.(?)" "p.(Gly1381Ser)" "" "0000998914" "00001876" "30" "3650" "4" "3650" "4" "c.3650+4C>G" "r.spl?" "p.?" "" "0000998915" "00001876" "30" "2921" "-19" "2921" "-19" "c.2921-19G>A" "r.(=)" "p.(=)" "" "0000998916" "00001876" "50" "2888" "0" "2888" "0" "c.2888A>G" "r.(?)" "p.(Asp963Gly)" "" "0000998917" "00001876" "30" "2281" "0" "2281" "0" "c.2281T>A" "r.(?)" "p.(Leu761Met)" "" "0000998918" "00001876" "30" "2256" "-16" "2256" "-16" "c.2256-16del" "r.(=)" "p.(=)" "" "0000998919" "00001876" "30" "1973" "0" "1973" "0" "c.1973G>T" "r.(?)" "p.(Gly658Val)" "" "0000998920" "00001876" "50" "1616" "0" "1616" "0" "c.1616A>G" "r.(?)" "p.(Tyr539Cys)" "" "0000998921" "00001876" "50" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Val421Ile)" "" "0000998922" "00001876" "30" "973" "0" "973" "0" "c.973G>T" "r.(?)" "p.(Asp325Tyr)" "" "0001014771" "00001876" "70" "4055" "0" "4055" "0" "c.4055G>C" "r.(?)" "p.(Arg1352Pro)" "" "0001014772" "00001876" "70" "3938" "0" "3938" "0" "c.3938G>A" "r.(?)" "p.(Arg1313His)" "" "0001014773" "00001876" "50" "2737" "0" "2737" "0" "c.2737C>G" "r.(?)" "p.(Leu913Val)" "" "0001014774" "00001876" "10" "2117" "-3" "2117" "-3" "c.2117-3C>T" "r.spl?" "p.?" "" "0001014775" "00001876" "30" "1923" "3" "1923" "3" "c.1923+3G>A" "r.spl?" "p.?" "" "0001017595" "00001876" "70" "836" "0" "852" "0" "c.836_852dup" "r.(?)" "p.(Ile287LeufsTer78)" "" "0001025942" "00001876" "50" "9736" "0" "9736" "0" "c.*4990C>T" "r.(=)" "p.(=)" "" "0001025943" "00001876" "50" "2929" "0" "2929" "0" "c.2929G>A" "r.(?)" "p.(Ala977Thr)" "" "0001025944" "00001876" "90" "2117" "-2" "2117" "-2" "c.2117-2A>T" "r.spl?" "p.?" "" "0001025945" "00001876" "50" "1252" "0" "1252" "0" "c.1252T>C" "r.(?)" "p.(Cys418Arg)" "" "0001025946" "00001876" "50" "946" "0" "946" "0" "c.946G>A" "r.(?)" "p.(Gly316Arg)" "" "0001025947" "00001876" "50" "100" "0" "100" "0" "c.100G>A" "r.(?)" "p.(Val34Met)" "" "0001038367" "00001876" "50" "4733" "0" "4733" "0" "c.4733G>A" "r.(?)" "p.(Arg1578His)" "" "0001038368" "00001876" "50" "4051" "0" "4051" "0" "c.4051G>A" "r.(?)" "p.(Val1351Met)" "" "0001038369" "00001876" "50" "3877" "0" "3877" "0" "c.3877T>G" "r.(?)" "p.(Tyr1293Asp)" "" "0001038370" "00001876" "50" "2895" "0" "2897" "0" "c.2895_2897del" "r.(?)" "p.(Leu966del)" "" "0001038371" "00001876" "50" "2803" "0" "2803" "0" "c.2803G>A" "r.(?)" "p.(Asp935Asn)" "" "0001038372" "00001876" "30" "2223" "-4" "2223" "-4" "c.2223-4G>T" "r.spl?" "p.?" "" "0001038373" "00001876" "50" "2017" "0" "2017" "0" "c.2017G>A" "r.(?)" "p.(Asp673Asn)" "" "0001038374" "00001876" "50" "1631" "-2741" "1631" "-2740" "c.1631-2741_1631-2740insACACGC" "r.(=)" "p.(=)" "" "0001038375" "00001876" "50" "1318" "0" "1318" "0" "c.1318G>A" "r.(?)" "p.(Ala440Thr)" "" "0001038376" "00001876" "90" "1054" "0" "1054" "0" "c.1054del" "r.(?)" "p.(Ala353Profs*6)" "" "0001045047" "00001876" "50" "1841" "0" "1841" "0" "c.1841T>C" "r.(?)" "p.(Leu614Pro)" "" "0001046295" "00001876" "50" "4607" "0" "4607" "0" "c.4607C>T" "r.(?)" "p.(Ala1536Val)" "" "0001046296" "00001876" "50" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Val1207Ile)" "" "0001046297" "00001876" "50" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Ser1053Asn)" "" "0001046298" "00001876" "90" "2980" "0" "2980" "0" "c.2980G>T" "r.(?)" "p.(Glu994*)" "" "0001046299" "00001876" "50" "2938" "0" "2938" "0" "c.2938G>A" "r.(?)" "p.(Glu980Lys)" "" "0001046300" "00001876" "50" "2664" "0" "2664" "0" "c.2664C>G" "r.(?)" "p.(His888Gln)" "" "0001046301" "00001876" "50" "2318" "0" "2318" "0" "c.2318C>T" "r.(?)" "p.(Ser773Leu)" "" "0001046302" "00001876" "50" "1833" "0" "1833" "0" "c.1833C>T" "r.(?)" "p.(=)" "" "0001046303" "00001876" "30" "945" "0" "945" "0" "c.945C>T" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 279 "{{screeningid}}" "{{variantid}}" "0000019903" "0000040391" "0000166848" "0000374101" "0000166849" "0000374102" "0000166850" "0000374103" "0000245706" "0000497876" "0000245707" "0000497877" "0000245708" "0000497878" "0000245709" "0000497879" "0000245710" "0000497880" "0000245711" "0000497881" "0000245712" "0000497882" "0000245713" "0000497883" "0000245714" "0000497884" "0000245715" "0000497885" "0000245716" "0000497886" "0000245717" "0000497887" "0000245718" "0000497888" "0000245719" "0000497889" "0000245720" "0000497890" "0000245721" "0000497891" "0000245722" "0000497892" "0000245723" "0000497893" "0000245724" "0000497894" "0000245725" "0000497895" "0000245726" "0000497896" "0000245727" "0000497897" "0000245728" "0000497898" "0000245729" "0000497899" "0000245730" "0000497900" "0000245731" "0000497901" "0000245732" "0000497902" "0000245733" "0000497903" "0000245734" "0000497904" "0000245735" "0000497905" "0000245736" "0000497906" "0000245737" "0000497907" "0000245738" "0000497908" "0000245739" "0000497909" "0000245740" "0000497910" "0000245741" "0000497911" "0000245742" "0000497912" "0000245743" "0000497913" "0000245744" "0000497914" "0000245745" "0000497915" "0000245746" "0000497916" "0000245747" "0000497917" "0000245748" "0000497918" "0000245749" "0000497919" "0000245750" "0000497920" "0000245751" "0000497921" "0000245752" "0000497922" "0000245753" "0000497923" "0000245754" "0000497924" "0000245755" "0000497925" "0000245756" "0000497926" "0000245757" "0000497927" "0000245758" "0000497928" "0000245759" "0000497929" "0000245760" "0000497930" "0000245761" "0000497931" "0000245762" "0000497932" "0000245763" "0000497933" "0000245764" "0000497934" "0000245765" "0000497935" "0000245766" "0000497936" "0000245767" "0000497937" "0000245768" "0000497938" "0000245769" "0000497939" "0000245770" "0000497940" "0000245771" "0000497941" "0000245772" "0000497942" "0000245773" "0000497943" "0000245774" "0000497944" "0000245775" "0000497945" "0000245776" "0000497946" "0000245777" "0000497947" "0000245778" "0000497948" "0000245779" "0000497949" "0000245780" "0000497950" "0000245781" "0000497951" "0000245782" "0000497952" "0000245783" "0000497953" "0000245784" "0000497954" "0000245785" "0000497955" "0000245786" "0000497956" "0000245787" "0000497957" "0000245788" "0000497958" "0000245789" "0000497959" "0000245790" "0000497960" "0000245791" "0000497961" "0000245792" "0000497962" "0000245793" "0000497963" "0000245794" "0000497964" "0000245795" "0000497965" "0000245796" "0000497966" "0000245797" "0000497967" "0000245798" "0000497968" "0000245799" "0000497969" "0000245800" "0000497970" "0000245801" "0000497971" "0000245802" "0000497972" "0000245803" "0000497973" "0000245804" "0000497974" "0000245805" "0000497975" "0000245806" "0000497976" "0000245807" "0000497977" "0000245808" "0000497978" "0000245809" "0000497979" "0000245810" "0000497980" "0000245811" "0000497981" "0000245812" "0000497982" "0000245813" "0000497983" "0000245814" "0000497984" "0000245815" "0000497985" "0000245816" "0000497986" "0000245817" "0000497987" "0000245818" "0000497988" "0000245819" "0000497989" "0000245820" "0000497990" "0000245821" "0000497991" "0000245822" "0000497992" "0000245823" "0000497993" "0000245824" "0000497994" "0000245825" "0000497995" "0000245826" "0000497996" "0000245827" "0000497997" "0000245828" "0000497998" "0000245829" "0000497999" "0000245830" "0000498000" "0000245831" "0000498001" "0000245832" "0000498002" "0000245833" "0000498003" "0000245834" "0000498004" "0000245835" "0000498005" "0000245836" "0000498006" "0000245837" "0000498007" "0000245838" "0000498008" "0000245839" "0000498009" "0000245840" "0000498010" "0000245841" "0000498011" "0000245842" "0000498012" "0000245843" "0000498013" "0000245844" "0000498014" "0000245845" "0000498015" "0000245846" "0000498016" "0000245847" "0000498017" "0000245848" "0000498018" "0000245849" "0000498019" "0000245850" "0000498020" "0000245851" "0000498021" "0000245852" "0000498022" "0000245853" "0000498023" "0000245854" "0000498024" "0000245855" "0000498025" "0000245856" "0000498026" "0000245857" "0000498027" "0000245858" "0000498028" "0000245859" "0000498029" "0000245860" "0000498030" "0000245861" "0000498031" "0000245862" "0000498032" "0000245863" "0000498033" "0000245864" "0000498034" "0000245865" "0000498035" "0000245866" "0000498036" "0000245867" "0000498037" "0000245868" "0000498038" "0000245869" "0000498039" "0000245870" "0000498040" "0000245871" "0000498041" "0000245872" "0000498042" "0000245873" "0000498043" "0000245874" "0000498044" "0000245875" "0000498045" "0000245876" "0000498046" "0000245877" "0000498047" "0000245878" "0000498048" "0000245879" "0000498049" "0000245880" "0000498050" "0000245881" "0000498051" "0000245882" "0000498052" "0000245883" "0000498053" "0000245884" "0000498054" "0000245885" "0000498055" "0000245886" "0000498056" "0000245887" "0000498057" "0000245888" "0000498058" "0000245889" "0000498059" "0000245890" "0000498060" "0000245891" "0000498061" "0000245892" "0000498062" "0000245893" "0000498063" "0000245894" "0000498064" "0000245895" "0000498065" "0000245896" "0000498066" "0000245897" "0000498067" "0000245898" "0000498068" "0000245899" "0000498069" "0000245900" "0000498070" "0000245901" "0000498071" "0000245902" "0000498072" "0000245903" "0000498073" "0000245904" "0000498074" "0000245905" "0000498075" "0000245906" "0000498076" "0000245907" "0000498077" "0000245908" "0000498078" "0000245909" "0000498079" "0000245910" "0000498080" "0000245911" "0000498081" "0000245912" "0000498082" "0000245913" "0000498083" "0000245914" "0000498084" "0000245915" "0000498085" "0000245916" "0000498086" "0000245917" "0000498087" "0000245918" "0000498088" "0000245919" "0000498089" "0000245920" "0000498090" "0000245921" "0000498092" "0000245922" "0000498093" "0000245923" "0000498094" "0000245924" "0000498095" "0000245925" "0000498096" "0000245926" "0000498097" "0000245927" "0000498098" "0000245928" "0000498099" "0000245929" "0000498100" "0000245930" "0000498101" "0000245931" "0000498102" "0000245932" "0000498103" "0000245933" "0000498104" "0000245934" "0000498105" "0000245935" "0000498106" "0000245936" "0000498107" "0000245937" "0000498108" "0000245938" "0000498109" "0000245939" "0000498110" "0000245940" "0000498111" "0000245941" "0000498112" "0000245942" "0000498113" "0000245943" "0000498114" "0000291478" "0000648167" "0000291479" "0000648168" "0000291480" "0000648169" "0000291482" "0000648171" "0000291483" "0000648172" "0000291484" "0000648173" "0000296823" "0000653538" "0000307018" "0000673554" "0000307033" "0000673569" "0000307033" "0000673570" "0000307034" "0000673571" "0000307034" "0000673572" "0000307316" "0000673932" "0000307316" "0000673933" "0000307330" "0000673949" "0000307330" "0000673950" "0000321622" "0000704534" "0000321622" "0000704535" "0000321623" "0000704536" "0000321623" "0000704537" "0000321624" "0000704540" "0000321629" "0000704546" "0000321632" "0000704551" "0000321632" "0000704552" "0000321636" "0000704554" "0000321638" "0000704557" "0000321639" "0000704558" "0000321641" "0000704561" "0000321641" "0000704562" "0000321644" "0000704567" "0000321644" "0000704570" "0000321647" "0000704574" "0000364454" "0000765234" "0000364455" "0000765235" "0000375834" "0000787185" "0000391290" "0000821027" "0000453062" "0000987569"