### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = KMT2D)
# 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}}"
"KMT2D" "lysine (K)-specific methyltransferase 2D" "12" "q13.12" "unknown" "NG_027827.1" "UD_138540061909" "" "https://www.LOVD.nl/KMT2D" "" "1" "7133" "8085" "602113" "1" "1" "1" "1" "Alias MLL2.\r\nWe gratefully acknowledge Aimée Paulussen for acting as a curator until 2016.\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/KMT2D_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2011-06-06 00:00:00" "00006" "2019-01-21 12:31:41" "00006" "2026-01-07 11:45:51"
## 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}}"
"00023885" "KMT2D" "lysine (K)-specific methyltransferase 2D" "002" "NM_003482.3" "" "NP_003473.3" "" "" "" "1" "19419" "16614" "49449107" "49412758" "00008" "2013-11-25 18:32:32" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 12
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00152" "CHD" "heart disease, congenital (CHD)" "" "" "" "" "" "00008" "2013-06-19 09:27:11" "00006" "2015-01-23 22:14:45"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00282" "KABUK1" "Kabuki syndrome, type 1" "AD" "147920" "" "autosomal dominant" "" "00008" "2013-11-25 18:31:50" "00006" "2025-10-10 15:53:17"
"00356" "MCOP" "anoophthalmia/microphthalmia" "" "" "" "" "" "00006" "2014-03-14 18:41:31" "00006" "2025-11-23 21:29:13"
"01544" "RB1" "retinoblastoma, type 1" "AD;SMu" "180200" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2025-01-14 18:01:23"
"03381" "cancer, gastric" "cancer, gastric (Neoplasm of stomach)" "" "613659" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-07-14 15:28:09"
"04227" "BD" "brachydactyly (BD)" "" "" "" "" "" "00006" "2015-03-14 21:49:37" "" ""
"05476" "SEMDSP" "dysplasia, spondyloepimetaphyseal, SPONASTRIME type (SEMDSP)" "AR" "271510" "" "autosomal recesive" "" "00006" "2018-10-20 03:14:40" "00006" "2020-05-19 10:37:38"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
"05793" "IMD74" "immunodeficiency, type 74, COVID19-related, X-linked" "XLR" "301051" "" "" "" "00006" "2020-07-24 22:16:50" "00006" "2025-08-26 15:50:59"
"05873" "KABUK" "Kabuki syndrome (KABUK)" "AD" "" "" "" "" "00006" "2020-11-08 17:13:44" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"KMT2D" "00139"
"KMT2D" "00282"
"KMT2D" "05873"
## Individuals ## Do not remove or alter this header ##
## Count = 1106
"{{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}}"
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"00019690" "" "" "" "1" "" "00006" "" "" "" "" "Italy" "" "0" "" "" "" ""
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"00036161" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036162" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036163" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036164" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
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"00036169" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036170" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036171" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036172" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036173" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036174" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036175" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036176" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036177" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036178" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036179" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036180" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036181" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036182" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036183" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036184" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036185" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036186" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036187" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036188" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036189" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036190" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036191" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036192" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036193" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036194" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036195" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036196" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00036197" "" "" "" "1" "" "01164" "" "" "" "" "Germany" "" "0" "" "" "" ""
"00047868" "" "" "" "1" "" "01380" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "M" "no" "Czech Republic" "" "0" "" "" "" ""
"00047869" "" "" "" "1" "" "01380" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "M" "no" "Czech Republic" "" "0" "" "" "white" ""
"00047870" "" "" "" "1" "" "01380" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "F" "no" "Czech Republic" "" "0" "" "" "white" ""
"00050491" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00050526" "" "" "" "2" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}" "family, affected mother/child" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00056501" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056502" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056503" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056504" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
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"00056506" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056507" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056508" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056509" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056510" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056511" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056512" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056513" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056514" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056515" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056516" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056517" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056518" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056519" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056520" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
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"00056523" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056524" "" "" "" "2" "" "01484" "{PMID:Ng 2010:20711175}, {PMID:Hannibal 2011:21671394}" "affected parent (and child)" "" "" "" "" "0" "" "" "" ""
"00056525" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}, {PMID:Hannibal 2011:21671394}" "affected child (and parent)" "" "" "" "" "0" "" "" "" ""
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"00056527" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
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"00056531" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056532" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056533" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056534" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056535" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "" "" "" "" "" "0" "" "" "" ""
"00056536" "" "" "" "2" "" "01484" "{PMID:Ng 2010:20711175}, {PMID:Hannibal 2011:21671394}" "" "" "" "" "" "0" "" "" "" ""
"00056537" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "affected parent (and child)" "" "" "" "" "0" "" "" "" ""
"00056538" "" "" "" "1" "" "01484" "{PMID:Ng 2010:20711175}" "affected child (and parent)" "" "" "" "" "0" "" "" "" ""
"00056539" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056540" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056541" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056542" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056543" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056544" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056545" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056546" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056547" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056548" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056549" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056550" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056551" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056552" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056553" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056554" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056555" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056556" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056557" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056558" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056559" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056560" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056561" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056562" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056563" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056564" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056565" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056566" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056567" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056568" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056569" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056570" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056571" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056572" "" "" "" "1" "" "01484" "{PMID:Paulussen 2011:21280141}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00056573" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056574" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056575" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056576" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056577" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056578" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056579" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056580" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056581" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056582" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056583" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056584" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056585" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056586" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056587" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056588" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056589" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056590" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056591" "" "" "" "1" "" "01484" "{PMID:Li 2011:21607748}" "" "" "" "Germany" "" "0" "" "" "" ""
"00056592" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056593" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056594" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056595" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056596" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056597" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056598" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056599" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056600" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056603" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056604" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056605" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056606" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056607" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056609" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056610" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056611" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056612" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056613" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056615" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056616" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056617" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056618" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056619" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056620" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056621" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056622" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056623" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056624" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056625" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056626" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056627" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056628" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056629" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056630" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056631" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056632" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056633" "" "" "" "1" "" "01484" "{PMID:Micale 2011:21658225}" "" "" "" "Italy" "" "0" "" "" "" ""
"00056637" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056638" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056639" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056640" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056641" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056642" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056643" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056644" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056645" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056646" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056647" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056648" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056649" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056650" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
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"00056652" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056653" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056654" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056655" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056656" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056657" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
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"00056659" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056660" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056661" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056662" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056663" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056664" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056665" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056666" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056667" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056668" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056669" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056670" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056671" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056672" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056673" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056674" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056675" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056676" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056677" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056678" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056679" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056680" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056681" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056682" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056683" "" "" "" "1" "" "01484" "{PMID:Hannibal 2011:21671394}" "" "" "" "United States" "" "0" "" "" "" ""
"00056684" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056685" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056686" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056687" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056688" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056689" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056690" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056691" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056692" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056693" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056694" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056695" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056696" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056697" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056698" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056699" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056700" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056701" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056702" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056703" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056704" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056705" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056706" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056707" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056708" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056709" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056710" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056711" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056712" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056713" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056714" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00056715" "" "" "" "1" "" "01484" "{PMID:Banka 2012:22126750}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
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"00073334" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "2-generation family, affected parent/child" "" "no" "" "" "0" "" "" "" "P1"
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"00073350" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P17"
"00073351" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P18"
"00073352" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P19"
"00073353" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P20"
"00073354" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P21"
"00073355" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P22"
"00073356" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P23"
"00073357" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P24"
"00073358" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P25"
"00073359" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P26"
"00073360" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P27"
"00073361" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P28"
"00073362" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P29"
"00073363" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P30"
"00073364" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P31"
"00073365" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P32"
"00073366" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P33"
"00073367" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P34"
"00073368" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P35"
"00073369" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P36"
"00073370" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P37"
"00073371" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P38"
"00073372" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P39"
"00073373" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P40"
"00073374" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P41"
"00073375" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P42"
"00073376" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P43"
"00073377" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P44"
"00073378" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P45"
"00073379" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P46"
"00073380" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P47"
"00073381" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P48"
"00073382" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P49"
"00073383" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P50"
"00073384" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P51"
"00073385" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P52"
"00073386" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P53"
"00073387" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P54"
"00073388" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P55"
"00073389" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P56"
"00073390" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P57"
"00073391" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P58"
"00073392" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P59"
"00073393" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P60"
"00073394" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P61"
"00073395" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P62"
"00073396" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P63"
"00073397" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P64"
"00073398" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P65"
"00073399" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P66"
"00073400" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P67"
"00073401" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P68"
"00073402" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P69"
"00073403" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P70"
"00073404" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P71"
"00073405" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P72"
"00073406" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P73"
"00073407" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P74"
"00073408" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P75"
"00073409" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P76"
"00073410" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P77"
"00073411" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P78"
"00073412" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P79"
"00073413" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P80"
"00073414" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P81"
"00073415" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P82"
"00073416" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P83"
"00073417" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P84"
"00073418" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P85"
"00073419" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P86"
"00073420" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P87"
"00073421" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P88"
"00073422" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P89"
"00073423" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P90"
"00073424" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P91"
"00073425" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P92"
"00073426" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P93"
"00073427" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P94"
"00073428" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P95"
"00073429" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P96"
"00073430" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P97"
"00073431" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P98"
"00073432" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P99"
"00073433" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P100"
"00073434" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P101"
"00073435" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P102"
"00073436" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P103"
"00073437" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P104"
"00073438" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P105"
"00073439" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P106"
"00073440" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P107"
"00073441" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P108"
"00073442" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P109"
"00073443" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P110"
"00073444" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P111"
"00073445" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P112"
"00073446" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P113"
"00073447" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P114"
"00073448" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P115"
"00073449" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P116"
"00073450" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P117"
"00073451" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P118"
"00073452" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P119"
"00073453" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P120"
"00073454" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P121"
"00073455" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P122"
"00073456" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P123"
"00073457" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P124"
"00073458" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P125"
"00073459" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P126"
"00073460" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P127"
"00073461" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P128"
"00073462" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P129"
"00073463" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P130"
"00073464" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P131"
"00073465" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P132"
"00073466" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P133"
"00073467" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P134"
"00073468" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P135"
"00073469" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P136"
"00073470" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P137"
"00073471" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P138"
"00073472" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P139"
"00073473" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P140"
"00073474" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P141"
"00073475" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P142"
"00073476" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P143"
"00073477" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P144"
"00073478" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P145"
"00073479" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P146"
"00073480" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P147"
"00073481" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P148"
"00073482" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P149"
"00073483" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P150"
"00073484" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P151"
"00073485" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P152"
"00073486" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P153"
"00073487" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "2-generation family, affected parent/child" "" "no" "" "" "0" "" "" "" "P154"
"00073488" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "2-generation family, affected parent/child" "" "no" "" "" "0" "" "" "" "P155"
"00073489" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P156"
"00073490" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P157"
"00073491" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P158"
"00073492" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P159"
"00073493" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P160"
"00073494" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P161"
"00073495" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P162"
"00073496" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P163"
"00073497" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P164"
"00073498" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P165"
"00073499" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P166"
"00073500" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P167"
"00073501" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P168"
"00073502" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P169"
"00073503" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P170"
"00073504" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P171"
"00073505" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P172"
"00073506" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P173"
"00073507" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P174"
"00073508" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P175"
"00073509" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P176"
"00073510" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P177"
"00073511" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P178"
"00073512" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P179"
"00073513" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P180"
"00073514" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P181"
"00073515" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P182"
"00073516" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P183"
"00073517" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P184"
"00073518" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P185"
"00073519" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P186"
"00073520" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P187"
"00073521" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P188"
"00073522" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P189"
"00073523" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P190"
"00073524" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P191"
"00073525" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P192"
"00073526" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P193"
"00073527" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P194"
"00073528" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P195"
"00073529" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P196"
"00073530" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P197"
"00073531" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P198"
"00073532" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P199"
"00073533" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P200"
"00073534" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P201"
"00073535" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P202"
"00073536" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P203"
"00073537" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P204"
"00073538" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P205"
"00073539" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P206"
"00073540" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P207"
"00073541" "" "" "" "1" "" "01671" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "no" "" "" "0" "" "" "" "P208"
"00073542" "" "" "" "1" "" "01380" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "M" "no" "Czech Republic" "" "0" "" "" "" ""
"00073543" "" "" "" "1" "" "01380" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "M" "no" "Czech Republic" "" "0" "" "" "" ""
"00073544" "" "" "" "1" "" "01380" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "M" "no" "Czech Republic" "" "0" "" "" "" ""
"00073545" "" "" "" "1" "" "00006" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "?" "" "Czech Republic" "" "0" "" "" "" ""
"00073546" "" "" "" "1" "" "00006" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Czech Republic" "" "0" "" "" "" ""
"00073547" "" "" "" "1" "" "00006" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Czech Republic" "" "0" "" "" "" ""
"00073548" "" "" "" "1" "" "00006" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Czech Republic" "" "0" "" "" "" ""
"00100191" "" "" "" "3" "" "01744" "{PMID:Sun 2016:27984602}" "3-generation family, affected proband, father and uncle" "M" "" "(China)" "" "0" "" "" "" ""
"00102094" "" "" "" "1" "" "01864" "" "" "M" "no" "China" "00y08m" "" "" "" "" "P24"
"00104009" "" "" "" "1" "" "00587" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer" "" "" "" "" "0" "" "" "" "Vogelaar-509A"
"00173736" "" "" "" "1" "" "02541" "{PMID:de Billy 2019:30569626}" "" "M" "" "Italy" "" "0" "" "" "" ""
"00183660" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat05"
"00183678" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat23"
"00183683" "" "" "" "1" "" "00006" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "Spain" "" "0" "" "" "" "27620904-Pat28"
"00207350" "" "" "" "1" "" "03112" "" "" "M" "" "Italy" "" "0" "" "" "" ""
"00207914" "" "" "" "1" "" "03117" "" "" "" "" "Romania" "" "0" "" "" "" ""
"00207915" "" "" "" "1" "" "03117" "" "" "" "" "Romania" "" "0" "" "" "" ""
"00207917" "" "" "" "1" "" "03117" "" "" "" "" "Romania" "" "0" "" "" "" ""
"00207918" "" "" "" "1" "" "03117" "" "" "" "" "Romania" "" "0" "" "" "" ""
"00207919" "" "" "" "1" "" "03117" "" "" "" "" "Romania" "" "0" "" "" "" ""
"00225453" "" "" "" "1" "" "00006" "{DOI:Chang 2019:10.1016/j.ajhg.2019.01.009}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Korea, South (Republic)" "" "0" "" "" "" "-Pat5"
"00276045" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00289351" "" "" "" "1" "" "01164" "" "" "M" "" "" "" "0" "" "" "" ""
"00289356" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" ""
"00290717" "" "" "" "8" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290718" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290719" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290720" "" "" "" "107" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290721" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290722" "" "" "" "7" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290723" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290724" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290725" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290726" "" "" "" "11" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00290727" "" "" "" "103" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295257" "" "" "" "15" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00295633" "" "" "" "1" "" "03626" "" "" "F" "yes" "Iran" "11y" "0" "" "" "" "1340588_1389"
"00301099" "" "" "" "1" "" "01807" "" "" "?" "" "(Germany)" "" "0" "" "" "" ""
"00303063" "" "" "" "1" "" "01164" "" "" "F" "" "" "" "0" "" "" "" ""
"00304360" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304361" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00304362" "" "" "" "4" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" ""
"00305938" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "36"
"00306213" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "113"
"00306231" "" "" "" "1" "" "03695" "" "" "F" "" "China" "" "" "" "" "" "139"
"00306233" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "141"
"00307142" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "-" "Brazil" "" "0" "" "" "" "Patient 06"
"00307145" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "no" "Brazil" "" "0" "" "" "" "Patient 21"
"00307257" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "0" "" "" "" "Patient 62"
"00307262" "" "" "" "1" "" "03753" "{PMID:Mendonca 2021:34478740}" "" "M" "" "Brazil" "" "" "" "" "" "Patient 86"
"00307753" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5410982"
"00311476" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "275507"
"00311477" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "269446"
"00311478" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "274620"
"00311513" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "262896"
"00311514" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "272231"
"00311515" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "280814"
"00311516" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270550"
"00311517" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "266963"
"00311518" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "263792"
"00311519" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "267442"
"00311520" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "276221"
"00311521" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270621"
"00311522" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "275576"
"00311523" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "275034"
"00311524" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "266963"
"00311525" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "264846"
"00311526" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "267993"
"00311527" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "280092"
"00311528" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "268551"
"00311529" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "275576"
"00311530" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "277357"
"00311531" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "272058"
"00311532" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "274405"
"00311533" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "281225"
"00311534" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "274149"
"00311535" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "274473"
"00311536" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270550"
"00311537" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "281225"
"00311538" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "265369"
"00311539" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "267342"
"00311540" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "266700"
"00311541" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "268551"
"00311542" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "275034"
"00311543" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "263792"
"00311544" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "266700"
"00311545" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "260428"
"00311546" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270621"
"00311547" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "260348"
"00311548" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "270682"
"00311549" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "276589"
"00311550" "" "" "" "1" "" "00006" "{PMID:Faundes 2018:29276005}" "" "" "" "" "" "0" "" "" "" "279053"
"00314907" "" "" "" "1" "" "00006" "{PMID:Zhu 2015:25590979}" "" "F" "" "United States" "" "0" "" "" "" "Trio101"
"00314967" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1112"
"00314968" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1450"
"00314969" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1180"
"00314970" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1148"
"00314971" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1056"
"00314972" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1066"
"00314973" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1170"
"00314974" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1357"
"00314975" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1197"
"00314976" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1142"
"00314977" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1146"
"00314978" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1116"
"00314979" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1301"
"00314980" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1173"
"00314981" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1179"
"00314982" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1042"
"00314983" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1204"
"00314984" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1199"
"00314985" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1302"
"00314986" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1354"
"00314987" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1114"
"00314988" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1340"
"00314989" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1084"
"00319496" "" "" "" "1" "" "01164" "" "" "F" "" "Germany" "" "0" "" "" "" "165860"
"00319896" "" "" "" "1" "" "00006" "{PMID:Brackmann 2012:23042018}" "" "" "" "Germany" "" "0" "" "" "" ""
"00319897" "" "" "" "1" "" "00006" "{PMID:Courcet 2013:23535010}" "" "" "" "France" "" "0" "" "" "" ""
"00319898" "" "" "" "1" "" "00006" "{PMID:Giordano 2014:24460868}" "" "" "" "Italy" "" "0" "" "" "" ""
"00319899" "" "" "" "1" "" "00006" "{PMID:Karagianni 2016:26898171}" "" "" "" "Greece" "" "0" "" "" "" ""
"00319900" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319901" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319902" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319903" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319904" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319905" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319906" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319907" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319908" "" "" "" "1" "" "00006" "{PMID:Lindsley 2016:26194542}" "" "" "" "" "" "0" "" "" "" ""
"00319909" "" "" "" "1" "" "00006" "{PMID:McVeigh 2015:26049589}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" ""
"00319910" "" "" "" "1" "" "00006" "{PMID:Schulz 2014:24705355}" "" "" "" "" "" "0" "" "" "" ""
"00319911" "" "" "" "1" "" "00006" "{PMID:Soden 2014:25473036}" "" "" "" "United States" "" "0" "" "" "" "CMH471"
"00319912" "" "" "" "1" "" "00006" "{PMID:Verhagen 2014:24862881}" "" "" "" "Netherlands" "" "0" "" "" "" ""
"00319913" "" "" "" "1" "" "00006" "{PMID:Yuen 2015:25621899}" "" "" "" "" "" "0" "" "" "" ""
"00319914" "" "" "" "1" "" "00006" "{PMID:Zaidi 2013:23665959}" "" "" "" "" "" "0" "" "" "" ""
"00319915" "" "" "" "1" "" "00006" "{PMID:Banka 2013:22901312}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat3"
"00319916" "" "" "" "2" "" "00006" "{PMID:Riess 2012:23326255}" "monozygotic twin brothers" "" "" "Germany" "" "0" "" "" "" "twins"
"00319917" "" "" "" "1" "" "00006" "{PMID:Banka 2013:22901312}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat5"
"00319918" "" "" "" "1" "" "00006" "{PMID:Banka 2013:22901312}" "" "" "" "United Kingdom (Great Britain)" "" "0" "" "" "" "Pat4"
"00332089" "" "" "" "1" "" "00000" "{PMID:Patel 2017:29450879}" "patient" "" "no" "Saudi Arabia" "" "0" "" "" "" "F17‐M"
"00334288" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334313" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334324" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334343" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334395" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334500" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334506" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334537" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334543" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334545" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334850" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334851" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334862" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00334944" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00335016" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00335030" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00335042" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" ""
"00361603" "" "" "" "1" "" "00006" "{PMID:Anazi 2017:27431290}" "simplex case" "M" "no" "Saudi Arabia" "" "0" "" "" "" "11DG0138"
"00374114" "" "" "" "1" "" "00006" "{PMID:Lefebvre 2021:32732226}" "fetus" "M" "" "France" "" "0" "" "" "" ""
"00374357" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-1143"
"00374358" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-2052"
"00374359" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-4848"
"00386951" "" "" "" "1" "" "03830" "" "" "F" "no" "Latvia" "" "" "" "" "" "Sk247.2"
"00391594" "" "" "" "1" "" "02494" "" "" "F" "no" "Spain" "" "" "" "" "" "030P"
"00398856" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "190896"
"00419633" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8031"
"00419634" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8046"
"00419681" "" "" "" "1" "" "04404" "" "" "F" "" "Italy" "" "" "" "" "white" ""
"00424915" "" "" "" "1" "" "03698" "" "" "M" "" "" "" "" "" "" "" ""
"00434203" "" "" "" "1" "" "00006" "{PMID:Jackson 2020:32830442}" "" "M" "" "" "" "0" "" "" "" "Fam1PatI"
"00435638" "" "" "" "1" "" "04087" "" "" "M" "no" "(Germany)" "" "" "" "" "" "HN- F142-II-1"
"00435656" "" "" "" "1" "" "04087" "" "" "M" "no" "(Germany)" "" "" "" "" "" "HN- F83-II-1"
"00437982" "" "" "" "1" "" "04531" "" "" "M" "no" "Poland" "" "" "" "" "white" "patient"
"00440378" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED2438.1"
"00443836" "" "" "" "1" "" "00006" "{PMID:Imafidon 2021:34136434}" "" "M" "" "Netherlands" "" "0" "" "" "" "Pat575"
"00446725" "" "" "" "1" "" "00006" "{PMID:Szakszon 2024:37580113}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Mexico" "" "0" "" "" "" "Pat20"
"00453785" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV934"
"00453799" "" "" "" "1" "" "00006" "{PMID:Mansoorshahi 2024:39226896}" "analysis 215 early-onset complications bicuspid aortic valve-affected families." "" "" "United States" "" "0" "" "" "" "BAV048"
"00455839" "" "" "" "1" "" "00006" "{PMID:Salinas 2020:33084218}" "patient" "M" "" "" "" "0" "" "" "" "Pat79"
"00457828" "" "" "" "1" "" "03544" "" "" "?" "-" "- (not applicable)" "" "" "" "" "white" ""
"00457831" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" ""
"00458100" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" ""
"00465306" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "331157"
"00466072" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" ""
"00469046" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469047" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469048" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469049" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469050" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469051" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469052" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00469115" "" "" "" "1" "" "00006" "{PMID:Retterer 2016:26633542}" "analysis proband (1/3040); possible combination of variants not reported" "" "" "United States" "" "0" "" "" "" ""
"00472083" "" "" "" "1" "" "00006" "{PMID:Yap 2019: 29907798}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "no" "" "" "0" "" "" "Hispanic" "Pat5"
"00472084" "" "" "" "1" "" "00006" "{PMID:Yap 2019: 29907798}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Hispanic;Latino" "Pat3"
"00472085" "" "" "" "1" "" "00006" "{PMID:Yap 2019: 29907798}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "Ecuador" "" "0" "" "" "" "Pat10"
"00472086" "" "" "" "1" "" "00006" "{PMID:Yap 2019: 29907798}" "2-generation family, 1 affected, unaffected non-carrier parents" "F" "" "" "" "0" "" "" "white" "Pat6"
"00472087" "" "" "" "1" "" "00006" "{PMID:Yap 2019: 29907798}" "2-generation family, 1 affected, unaffected non-carrier parents" "M" "" "" "" "0" "" "" "Asia" "Pat7"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1081
"{{individualid}}" "{{diseaseid}}"
"00019621" "00282"
"00019622" "00282"
"00019623" "00282"
"00019624" "00282"
"00019625" "00282"
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"00056651" "00282"
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"00056665" "00282"
"00056666" "00282"
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"00056671" "00282"
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"00073356" "00282"
"00073357" "00282"
"00073358" "00282"
"00073359" "00282"
"00073360" "00282"
"00073361" "00282"
"00073362" "00282"
"00073363" "00282"
"00073364" "00282"
"00073365" "00282"
"00073366" "00282"
"00073367" "00282"
"00073368" "00282"
"00073369" "00282"
"00073370" "00282"
"00073371" "00282"
"00073372" "00282"
"00073373" "00282"
"00073374" "00282"
"00073375" "00282"
"00073376" "00282"
"00073377" "00282"
"00073378" "00282"
"00073379" "00282"
"00073380" "00282"
"00073381" "00282"
"00073382" "00282"
"00073383" "00282"
"00073384" "00282"
"00073385" "00282"
"00073386" "00282"
"00073387" "00282"
"00073388" "00282"
"00073389" "00282"
"00073390" "00282"
"00073391" "00282"
"00073392" "00282"
"00073393" "00282"
"00073394" "00282"
"00073395" "00282"
"00073396" "00282"
"00073397" "00282"
"00073398" "00282"
"00073399" "00282"
"00073400" "00282"
"00073401" "00282"
"00073402" "00282"
"00073403" "00282"
"00073404" "00282"
"00073405" "00282"
"00073406" "00282"
"00073407" "00282"
"00073408" "00282"
"00073409" "00282"
"00073410" "00282"
"00073411" "00282"
"00073412" "00282"
"00073413" "00282"
"00073414" "00282"
"00073415" "00282"
"00073416" "00282"
"00073417" "00282"
"00073418" "00282"
"00073419" "00282"
"00073420" "00282"
"00073421" "00282"
"00073422" "00282"
"00073423" "00282"
"00073424" "00282"
"00073425" "00282"
"00073426" "00282"
"00073427" "00282"
"00073428" "00282"
"00073429" "00282"
"00073430" "00282"
"00073431" "00282"
"00073432" "00282"
"00073433" "00282"
"00073434" "00282"
"00073435" "00282"
"00073436" "00282"
"00073437" "00282"
"00073438" "00282"
"00073439" "00282"
"00073440" "00282"
"00073441" "00282"
"00073442" "00282"
"00073443" "00282"
"00073444" "00282"
"00073445" "00282"
"00073446" "00282"
"00073447" "00282"
"00073448" "00282"
"00073449" "00282"
"00073450" "00282"
"00073451" "00282"
"00073452" "00282"
"00073453" "00282"
"00073454" "00282"
"00073455" "00282"
"00073456" "00282"
"00073457" "00282"
"00073458" "00282"
"00073459" "00282"
"00073460" "00282"
"00073461" "00282"
"00073462" "00282"
"00073463" "00282"
"00073464" "00282"
"00073465" "00282"
"00073466" "00282"
"00073467" "00282"
"00073468" "00282"
"00073469" "00282"
"00073470" "00282"
"00073471" "00282"
"00073472" "00282"
"00073473" "00282"
"00073474" "00282"
"00073475" "00282"
"00073476" "00282"
"00073477" "00282"
"00073478" "00282"
"00073479" "00282"
"00073480" "00282"
"00073481" "00282"
"00073482" "00282"
"00073483" "00282"
"00073484" "00282"
"00073485" "00282"
"00073486" "00282"
"00073487" "00282"
"00073488" "00282"
"00073489" "00282"
"00073490" "00282"
"00073491" "00282"
"00073492" "00282"
"00073493" "00282"
"00073494" "00282"
"00073495" "00282"
"00073496" "00282"
"00073497" "00282"
"00073498" "00282"
"00073499" "00282"
"00073500" "00282"
"00073501" "00282"
"00073502" "00282"
"00073503" "00282"
"00073504" "00282"
"00073505" "00282"
"00073506" "00282"
"00073507" "00282"
"00073508" "00282"
"00073509" "00282"
"00073510" "00282"
"00073511" "00282"
"00073512" "00282"
"00073513" "00282"
"00073514" "00282"
"00073515" "00282"
"00073516" "00282"
"00073517" "00282"
"00073518" "00282"
"00073519" "00282"
"00073520" "00282"
"00073521" "00282"
"00073522" "00282"
"00073523" "00282"
"00073524" "00282"
"00073525" "00282"
"00073526" "00282"
"00073527" "00282"
"00073528" "00282"
"00073529" "00282"
"00073530" "00282"
"00073531" "00282"
"00073532" "00282"
"00073533" "00282"
"00073534" "00282"
"00073535" "00282"
"00073536" "00282"
"00073537" "00282"
"00073538" "00282"
"00073539" "00282"
"00073540" "00282"
"00073541" "00282"
"00073542" "00282"
"00073543" "00282"
"00073544" "00282"
"00073545" "00282"
"00073546" "00282"
"00073547" "00282"
"00073548" "00282"
"00100191" "04227"
"00102094" "00139"
"00104009" "03381"
"00173736" "00282"
"00183660" "00139"
"00183678" "00139"
"00183683" "00139"
"00207350" "00282"
"00207914" "00282"
"00207915" "00282"
"00207917" "00282"
"00207918" "00282"
"00207919" "00282"
"00225453" "05476"
"00276045" "00198"
"00289351" "00198"
"00289356" "00198"
"00290717" "00198"
"00290718" "00198"
"00290719" "00198"
"00290720" "00198"
"00290721" "00198"
"00290722" "00198"
"00290723" "00198"
"00290724" "00198"
"00290725" "00198"
"00290726" "00198"
"00290727" "00198"
"00295257" "00198"
"00295633" "00282"
"00301099" "00198"
"00303063" "00198"
"00304360" "00198"
"00304361" "00198"
"00304362" "00198"
"00305938" "00282"
"00306213" "00282"
"00306231" "00282"
"00306233" "00282"
"00307142" "01544"
"00307145" "01544"
"00307257" "01544"
"00307262" "01544"
"00307753" "00139"
"00311476" "00198"
"00311477" "00198"
"00311478" "00198"
"00311513" "00198"
"00311514" "00198"
"00311515" "00198"
"00311516" "00198"
"00311517" "00198"
"00311518" "00198"
"00311519" "00198"
"00311520" "00198"
"00311521" "00198"
"00311522" "00198"
"00311523" "00198"
"00311524" "00198"
"00311525" "00198"
"00311526" "00198"
"00311527" "00198"
"00311528" "00198"
"00311529" "00198"
"00311530" "00198"
"00311531" "00198"
"00311532" "00198"
"00311533" "00198"
"00311534" "00198"
"00311535" "00198"
"00311536" "00198"
"00311537" "00198"
"00311538" "00198"
"00311539" "00198"
"00311540" "00198"
"00311541" "00198"
"00311542" "00198"
"00311543" "00198"
"00311544" "00198"
"00311545" "00198"
"00311546" "00198"
"00311547" "00198"
"00311548" "00198"
"00311549" "00198"
"00311550" "00198"
"00314907" "00198"
"00314967" "00198"
"00314968" "00198"
"00314969" "00198"
"00314970" "00198"
"00314971" "00198"
"00314972" "00198"
"00314973" "00198"
"00314974" "00198"
"00314975" "00198"
"00314976" "00198"
"00314977" "00198"
"00314978" "00198"
"00314979" "00198"
"00314980" "00198"
"00314981" "00198"
"00314982" "00198"
"00314983" "00198"
"00314984" "00198"
"00314985" "00198"
"00314986" "00198"
"00314987" "00198"
"00314988" "00198"
"00314989" "00198"
"00319496" "00282"
"00319896" "05873"
"00319897" "05873"
"00319898" "05873"
"00319899" "05873"
"00319900" "05873"
"00319901" "05873"
"00319902" "05873"
"00319903" "05873"
"00319904" "05873"
"00319905" "05873"
"00319906" "05873"
"00319907" "05873"
"00319908" "05873"
"00319909" "05873"
"00319910" "05873"
"00319911" "05873"
"00319912" "05873"
"00319913" "00198"
"00319914" "00198"
"00319915" "05873"
"00319916" "05873"
"00319917" "05873"
"00319918" "05873"
"00332089" "00356"
"00334288" "05793"
"00334313" "05793"
"00334324" "05793"
"00334343" "05793"
"00334395" "05793"
"00334500" "05793"
"00334506" "05793"
"00334537" "05793"
"00334543" "05793"
"00334545" "05793"
"00334850" "05793"
"00334851" "05793"
"00334862" "05793"
"00334944" "05793"
"00335016" "05793"
"00335030" "05793"
"00335042" "05793"
"00361603" "00139"
"00374114" "00198"
"00374357" "00198"
"00374358" "00198"
"00374359" "00198"
"00386951" "00282"
"00391594" "00282"
"00398856" "00282"
"00419633" "00198"
"00419634" "00198"
"00419681" "05873"
"00424915" "05873"
"00434203" "00198"
"00435638" "00282"
"00435656" "00282"
"00437982" "00282"
"00440378" "00198"
"00443836" "00198"
"00446725" "05611"
"00453785" "00152"
"00453799" "00152"
"00455839" "00198"
"00457828" "00152"
"00457831" "05873"
"00458100" "05873"
"00465306" "00282"
"00466072" "05611"
"00469046" "00198"
"00469047" "00198"
"00469048" "00198"
"00469049" "00198"
"00469050" "00198"
"00469051" "00198"
"00469052" "00198"
"00469115" "00198"
"00472083" "05873"
"00472084" "05873"
"00472085" "05873"
"00472086" "05873"
"00472087" "05873"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00152, 00198, 00282, 00356, 01544, 03381, 04227, 05476, 05611, 05793, 05873
## Count = 1053
"{{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}}"
"0000017422" "00282" "00019621" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017423" "00282" "00019622" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017424" "00282" "00019623" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017425" "00282" "00019624" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017426" "00282" "00019625" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017427" "00282" "00019626" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017428" "00282" "00019627" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017429" "00282" "00019628" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017430" "00282" "00019629" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017431" "00282" "00019630" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017432" "00282" "00019631" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017433" "00282" "00019632" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017434" "00282" "00019633" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017435" "00282" "00019634" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017436" "00282" "00019635" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017437" "00282" "00019636" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017438" "00282" "00019637" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017439" "00282" "00019638" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017440" "00282" "00019639" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017441" "00282" "00019640" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017442" "00282" "00019641" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017443" "00282" "00019642" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017444" "00282" "00019643" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017445" "00282" "00019644" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017446" "00282" "00019645" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017447" "00282" "00019646" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017448" "00282" "00019647" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017449" "00282" "00019648" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017450" "00282" "00019649" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017451" "00282" "00019650" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017452" "00282" "00019651" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017453" "00282" "00019652" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017454" "00282" "00019653" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017455" "00282" "00019654" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017456" "00282" "00019655" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017457" "00282" "00019656" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017458" "00282" "00019657" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017459" "00282" "00019658" "00669" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017460" "00282" "00019659" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017461" "00282" "00019660" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017462" "00282" "00019661" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017463" "00282" "00019662" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017464" "00282" "00019663" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017465" "00282" "00019664" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017466" "00282" "00019665" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017467" "00282" "00019666" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017468" "00282" "00019667" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017469" "00282" "00019668" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017470" "00282" "00019669" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017471" "00282" "00019670" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017472" "00282" "00019671" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017474" "00282" "00019673" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017475" "00282" "00019674" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017476" "00282" "00019675" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017477" "00282" "00019676" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017478" "00282" "00019677" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017479" "00282" "00019678" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017480" "00282" "00019679" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017481" "00282" "00019680" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017482" "00282" "00019681" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017483" "00282" "00019682" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017484" "00282" "00019683" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017485" "00282" "00019684" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017486" "00282" "00019685" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017487" "00282" "00019686" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017488" "00282" "00019687" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017489" "00282" "00019688" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017490" "00282" "00019689" "00672" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017491" "00282" "00019690" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017492" "00282" "00019691" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017493" "00282" "00019692" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017494" "00282" "00019693" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017495" "00282" "00019694" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017496" "00282" "00019695" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000017497" "00282" "00019696" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000037103" "00198" "00050491" "00006" "Isolated (sporadic)" "" "seizures, global developmental delay, wide nasal bridge, epicanthus, long eyelashes, sparse eyebrow, slender tapering fingers, wide mouth, joint laxity, delayed eruption of teeth, truncal ataxia" "" "" "" "" "" "" "" "" "" "" ""
"0000037138" "00198" "00050526" "00006" "Unknown" "" "bilateral cleft lip and palate, ventricular septal defect, aortic regurgitation, laryngomalacia, hypertelorism, upslanted palpebral fissure, widows peak" "" "" "" "" "" "" "" "" "" "" ""
"0000043189" "00282" "00056501" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043190" "00282" "00056502" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043191" "00282" "00056503" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043192" "00282" "00056504" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043193" "00282" "00056505" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043194" "00282" "00056506" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043195" "00282" "00056507" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043196" "00282" "00056508" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043197" "00282" "00056509" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043198" "00282" "00056510" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
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"0000043724" "00282" "00057036" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043725" "00282" "00057037" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043726" "00282" "00057038" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043727" "00282" "00057039" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043728" "00282" "00057040" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043729" "00282" "00057041" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043730" "00282" "00057042" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043731" "00282" "00057043" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043732" "00282" "00057044" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043733" "00282" "00057045" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043734" "00282" "00057046" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043735" "00282" "00057047" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043736" "00282" "00057048" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043737" "00282" "00057049" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043738" "00282" "00057050" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043739" "00282" "00057051" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043740" "00282" "00057052" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043741" "00282" "00057053" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043742" "00282" "00057054" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043743" "00282" "00057055" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043744" "00282" "00057056" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043745" "00282" "00057057" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043746" "00282" "00057058" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043747" "00282" "00057059" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043748" "00282" "00057060" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043749" "00282" "00057061" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043750" "00282" "00057062" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043751" "00282" "00057063" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043752" "00282" "00057064" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043753" "00282" "00057065" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043754" "00282" "00057066" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043755" "00282" "00057067" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043756" "00282" "00057068" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043757" "00282" "00057069" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043758" "00282" "00057070" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043759" "00282" "00057071" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043760" "00282" "00057072" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043761" "00282" "00057073" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043762" "00282" "00057074" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043763" "00282" "00057075" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043764" "00282" "00057076" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043765" "00282" "00057077" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043766" "00282" "00057078" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043767" "00282" "00057079" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043768" "00282" "00057080" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043769" "00282" "00057081" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043770" "00282" "00057082" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043771" "00282" "00057083" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043772" "00282" "00057084" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043773" "00282" "00057085" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043774" "00282" "00057086" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043775" "00282" "00057087" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043776" "00282" "00057088" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043777" "00282" "00057089" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043778" "00282" "00057090" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043779" "00282" "00057091" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043780" "00282" "00057092" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043781" "00282" "00057093" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043782" "00282" "00057094" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043783" "00282" "00057095" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043784" "00282" "00057096" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043785" "00282" "00057097" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043786" "00282" "00057098" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043787" "00282" "00057099" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043788" "00282" "00057100" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043789" "00282" "00057101" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043790" "00282" "00057102" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043791" "00282" "00057103" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043792" "00282" "00057104" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043793" "00282" "00057105" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043794" "00282" "00057106" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043795" "00282" "00057107" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043796" "00282" "00057108" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043797" "00282" "00057109" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043798" "00282" "00057110" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043799" "00282" "00057111" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043800" "00282" "00057112" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043801" "00282" "00057113" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043802" "00282" "00057114" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043803" "00282" "00057115" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043804" "00282" "00057116" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043805" "00282" "00057117" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043806" "00282" "00057118" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043807" "00282" "00057119" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043808" "00282" "00057120" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043809" "00282" "00057121" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043810" "00282" "00057122" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043811" "00282" "00057123" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043812" "00282" "00057124" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043813" "00282" "00057125" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043814" "00282" "00057126" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043815" "00282" "00057127" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043816" "00282" "00057128" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043817" "00282" "00057129" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043818" "00282" "00057130" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043819" "00282" "00057131" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043820" "00282" "00057132" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043821" "00282" "00057133" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043822" "00282" "00057134" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043823" "00282" "00057135" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043824" "00282" "00057136" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043825" "00282" "00057137" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043826" "00282" "00057138" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043827" "00282" "00057139" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043828" "00282" "00057140" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043829" "00282" "00057141" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043830" "00282" "00057142" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043831" "00282" "00057143" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043832" "00282" "00057144" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043833" "00282" "00057145" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043834" "00282" "00057146" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043835" "00282" "00057147" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043836" "00282" "00057148" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043837" "00282" "00057149" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043838" "00282" "00057150" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043839" "00282" "00057151" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043840" "00282" "00057152" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043841" "00282" "00057153" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043842" "00282" "00057154" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043843" "00282" "00057155" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043844" "00282" "00057156" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000043845" "00282" "00057157" "01484" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000053009" "00282" "00073334" "01671" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053010" "00282" "00073335" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053011" "00282" "00073336" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053012" "00282" "00073337" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053013" "00282" "00073338" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053014" "00282" "00073339" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053015" "00282" "00073340" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053016" "00282" "00073341" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053017" "00282" "00073342" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053018" "00282" "00073343" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053019" "00282" "00073344" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053020" "00282" "00073345" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053021" "00282" "00073346" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053022" "00282" "00073347" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053023" "00282" "00073348" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053024" "00282" "00073349" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053025" "00282" "00073350" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053026" "00282" "00073351" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053027" "00282" "00073352" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053028" "00282" "00073353" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053029" "00282" "00073354" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053030" "00282" "00073355" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053031" "00282" "00073356" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053032" "00282" "00073357" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053033" "00282" "00073358" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053034" "00282" "00073359" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053035" "00282" "00073360" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053036" "00282" "00073361" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053037" "00282" "00073362" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053038" "00282" "00073363" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053039" "00282" "00073364" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053040" "00282" "00073365" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053041" "00282" "00073366" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053042" "00282" "00073367" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053043" "00282" "00073368" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053044" "00282" "00073369" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053045" "00282" "00073370" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053046" "00282" "00073371" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053047" "00282" "00073372" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053048" "00282" "00073373" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053049" "00282" "00073374" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053050" "00282" "00073375" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053051" "00282" "00073376" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053052" "00282" "00073377" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053053" "00282" "00073378" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053054" "00282" "00073379" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053055" "00282" "00073380" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053056" "00282" "00073381" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053057" "00282" "00073382" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053058" "00282" "00073383" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053059" "00282" "00073384" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053060" "00282" "00073385" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053061" "00282" "00073386" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053062" "00282" "00073387" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053063" "00282" "00073388" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053064" "00282" "00073389" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053065" "00282" "00073390" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053066" "00282" "00073391" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053067" "00282" "00073392" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053068" "00282" "00073393" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053069" "00282" "00073394" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053070" "00282" "00073395" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053071" "00282" "00073396" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053072" "00282" "00073397" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053073" "00282" "00073398" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053074" "00282" "00073399" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053075" "00282" "00073400" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053076" "00282" "00073401" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053077" "00282" "00073402" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053078" "00282" "00073403" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053079" "00282" "00073404" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053080" "00282" "00073405" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053081" "00282" "00073406" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053082" "00282" "00073407" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053083" "00282" "00073408" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053084" "00282" "00073409" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053085" "00282" "00073410" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053086" "00282" "00073411" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053087" "00282" "00073412" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053088" "00282" "00073413" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053089" "00282" "00073414" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053090" "00282" "00073415" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053091" "00282" "00073416" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053092" "00282" "00073417" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053093" "00282" "00073418" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053094" "00282" "00073419" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053095" "00282" "00073420" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053096" "00282" "00073421" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053097" "00282" "00073422" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053098" "00282" "00073423" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053099" "00282" "00073424" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053100" "00282" "00073425" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053101" "00282" "00073426" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053102" "00282" "00073427" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053103" "00282" "00073428" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053104" "00282" "00073429" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053105" "00282" "00073430" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053106" "00282" "00073431" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053107" "00282" "00073432" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053108" "00282" "00073433" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053109" "00282" "00073434" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053110" "00282" "00073435" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053111" "00282" "00073436" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053112" "00282" "00073437" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053113" "00282" "00073438" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053114" "00282" "00073439" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053115" "00282" "00073440" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053116" "00282" "00073441" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053117" "00282" "00073442" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053118" "00282" "00073443" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053119" "00282" "00073444" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053120" "00282" "00073445" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053121" "00282" "00073446" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053122" "00282" "00073447" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053123" "00282" "00073448" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053124" "00282" "00073449" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053125" "00282" "00073450" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053126" "00282" "00073451" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053127" "00282" "00073452" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053128" "00282" "00073453" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053129" "00282" "00073454" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053130" "00282" "00073455" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053131" "00282" "00073456" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053132" "00282" "00073457" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053133" "00282" "00073458" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053134" "00282" "00073459" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053135" "00282" "00073460" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053136" "00282" "00073461" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053137" "00282" "00073462" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053138" "00282" "00073463" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053139" "00282" "00073464" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053140" "00282" "00073465" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053141" "00282" "00073466" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053142" "00282" "00073467" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053143" "00282" "00073468" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053144" "00282" "00073469" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053145" "00282" "00073470" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053146" "00282" "00073471" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053147" "00282" "00073472" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053148" "00282" "00073473" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053149" "00282" "00073474" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053150" "00282" "00073475" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053151" "00282" "00073476" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053152" "00282" "00073477" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053153" "00282" "00073478" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053154" "00282" "00073479" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053155" "00282" "00073480" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053156" "00282" "00073481" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053157" "00282" "00073482" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053158" "00282" "00073483" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053159" "00282" "00073484" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053160" "00282" "00073485" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053161" "00282" "00073486" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053162" "00282" "00073487" "01671" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053163" "00282" "00073488" "01671" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053164" "00282" "00073489" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053165" "00282" "00073490" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053166" "00282" "00073491" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053167" "00282" "00073492" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053168" "00282" "00073493" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053169" "00282" "00073494" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053170" "00282" "00073495" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053171" "00282" "00073496" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053172" "00282" "00073497" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053173" "00282" "00073498" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053174" "00282" "00073499" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053175" "00282" "00073500" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053176" "00282" "00073501" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053177" "00282" "00073502" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053178" "00282" "00073503" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053179" "00282" "00073504" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053180" "00282" "00073505" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053181" "00282" "00073506" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053182" "00282" "00073507" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "Kabuku syndrome" ""
"0000053183" "00282" "00073508" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053184" "00282" "00073509" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053185" "00282" "00073510" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053186" "00282" "00073511" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053187" "00282" "00073512" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053188" "00282" "00073513" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053189" "00282" "00073514" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053190" "00282" "00073515" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053191" "00282" "00073516" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053192" "00282" "00073517" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053193" "00282" "00073518" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053194" "00282" "00073519" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053195" "00282" "00073520" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053196" "00282" "00073521" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053197" "00282" "00073522" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053198" "00282" "00073523" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053199" "00282" "00073524" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053200" "00282" "00073525" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053201" "00282" "00073526" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053202" "00282" "00073527" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053203" "00282" "00073528" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053204" "00282" "00073529" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053205" "00282" "00073530" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053206" "00282" "00073531" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053207" "00282" "00073532" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053208" "00282" "00073533" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053209" "00282" "00073534" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053210" "00282" "00073535" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053211" "00282" "00073536" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053212" "00282" "00073537" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053213" "00282" "00073538" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053214" "00282" "00073539" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053215" "00282" "00073540" "01671" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053216" "00282" "00073541" "01671" "Unknown" "" "" "" "" "" "" "" "" "" "" "KABUK1" "Kabuku syndrome" ""
"0000053217" "00282" "00047870" "01380" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000053218" "00282" "00047869" "01380" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000053219" "00282" "00047868" "01380" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000053220" "00282" "00073542" "01380" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000053221" "00282" "00073543" "01380" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000053222" "00282" "00073544" "01380" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" ""
"0000078452" "04227" "00100191" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000080278" "00139" "00102094" "01864" "Isolated (sporadic)" "" "HP:0001999; HP:0001510; HP:0011968; HP:0000175; HP:0001629; HP:0001643; HP:0006532; global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" ""
"0000081943" "03381" "00104009" "00587" "Unknown" "" "diffuse-type or intestinal-type gastric cancer" "" "" "" "" "" "" "" "" "" "" ""
"0000138602" "00282" "00173736" "02541" "Isolated (sporadic)" "" "Patient affected by Kabuki syndrome and Burkitt\'s lymphoma" "" "" "" "" "" "" "" "" "" "" ""
"0000144346" "00139" "00183660" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK-1" "intellectual disability" ""
"0000144364" "00139" "00183678" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK-1" "intellectual disability" ""
"0000144369" "00139" "00183683" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK-1" "intellectual disability" ""
"0000156381" "00198" "00036174" "01164" "Unknown" "" "psychomotor retardation, muscle hypotonia, Fazies (Kabuki syndrome)" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156382" "00198" "00036175" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156383" "00198" "00036177" "01164" "Unknown" "" "psychomotor retardation, muscle hypotonia, Fazies (Kabuki syndrome)" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156384" "00198" "00036179" "01164" "Unknown" "" "global developmental delay" "" "" "" "" "" "" "" "" "" "global developmental delay" ""
"0000156385" "00198" "00036180" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156386" "00198" "00036182" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156387" "00198" "00036184" "01164" "Unknown" "" "vague dysmorphism syndrome" "" "" "" "" "" "" "" "" "" "multiple dysmorphisms" ""
"0000156388" "00198" "00036187" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156389" "00198" "00036190" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156390" "00198" "00036193" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156391" "00198" "00036194" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000156392" "00198" "00036197" "01164" "Unknown" "" "suspected Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome?" ""
"0000170568" "05476" "00225453" "00006" "Familial, autosomal recessive" "2y7m" "see paper; …" "" "" "" "" "" "" "" "" "" "SPONASTRIME dysplasia" ""
"0000210601" "00198" "00276045" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Short stature (HP:0004322); Decreased body weight (HP:0004325); Microcephaly (HP:0000252)" "" "" "" "" "" "" "" "" "" "" ""
"0000222970" "00198" "00289351" "01164" "Unknown" "" "Cerebral palsy (HP:0100021); Polydactyly (HP:0010442); Intellectual disability (HP:0001249); Neurodevelopmental delay (HP:0012758); Thick lower lip vermilion (HP:0000179); Malformation of the heart and great vessels (HP:0002564); Hypospadias (HP:0000047); Increased axial globe length (HP:0007800)" "" "" "" "" "" "" "" "" "" "" ""
"0000222975" "00198" "00289356" "01807" "Unknown" "" "Global developmental delay (HP:0001263); Seizures (HP:0001250); Horseshoe kidney (HP:0000085); Low-set ears (HP:0000369); High palate (HP:0000218); Short toe (HP:0001831); Ventricular septal defect (HP:0001629); Ptosis (HP:0000508); Muscular hypotonia (HP:0001252); Joint hypermobility (HP:0001382)" "" "" "" "" "" "" "" "" "" "" ""
"0000223197" "00282" "00295633" "03626" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000228404" "00198" "00301099" "01807" "Unknown" "" "Horseshoe kidney (HP:0000085); Microcephaly (HP:0000252); Single umbilical artery (HP:0001195); Ventricular septal defect (HP:0001629); Pleural effusion (HP:0002202); Increased nuchal translucency (HP:0010880)" "" "" "" "" "" "" "" "" "" "" ""
"0000230146" "00198" "00303063" "01164" "Unknown" "" "Generalized hypotonia (HP:0001290); Hypertelorism (HP:0000316); Abnormality of skeletal physiology (HP:0011843); Abnormality of the skeletal system (HP:0000924); Abnormal facial shape (HP:0001999); Abnormal muscle tone (HP:0003808); Abnormality of skeletal morphology (HP:0011842); Feeding difficulties (HP:0011968); Muscular hypotonia (HP:0001252)" "" "" "" "" "" "" "" "" "" "" ""
"0000231788" "00282" "00305938" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232061" "00282" "00306213" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232079" "00282" "00306231" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232081" "00282" "00306233" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000232946" "01544" "00307142" "03753" "-" "" "Unilateral" "" "00y35m" "HP:0000555" "" "" "" "" "" "" "" ""
"0000232950" "01544" "00307145" "03753" "Unknown" "" "Unilateral" "" "00y32m" "HP:0000555" "" "" "" "" "" "" "" ""
"0000233061" "01544" "00307257" "03753" "Unknown" "" "Unilateral" "" "00y22m" "HP:0000486" "" "" "" "" "" "" "" ""
"0000233066" "01544" "00307262" "03753" "Unknown" "" "Unilateral" "" "00y05m" "HP:0000486" "" "" "" "" "" "" "" ""
"0000236722" "00198" "00311476" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236723" "00198" "00311477" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236724" "00198" "00311478" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236759" "00198" "00311513" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236760" "00198" "00311514" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236761" "00198" "00311515" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236762" "00198" "00311516" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236763" "00198" "00311517" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236764" "00198" "00311518" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236765" "00198" "00311519" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236766" "00198" "00311520" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236767" "00198" "00311521" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236768" "00198" "00311522" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236769" "00198" "00311523" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236770" "00198" "00311524" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236771" "00198" "00311525" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236772" "00198" "00311526" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236773" "00198" "00311527" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236774" "00198" "00311528" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236775" "00198" "00311529" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236776" "00198" "00311530" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236777" "00198" "00311531" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236778" "00198" "00311532" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236779" "00198" "00311533" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236780" "00198" "00311534" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236781" "00198" "00311535" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236782" "00198" "00311536" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236783" "00198" "00311537" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236784" "00198" "00311538" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236785" "00198" "00311539" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236786" "00198" "00311540" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236787" "00198" "00311541" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236788" "00198" "00311542" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236789" "00198" "00311543" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236790" "00198" "00311544" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236791" "00198" "00311545" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236792" "00198" "00311546" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236793" "00198" "00311547" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236794" "00198" "00311548" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236795" "00198" "00311549" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000236796" "00198" "00311550" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" ""
"0000238665" "00198" "00314907" "00006" "Unknown" "14y" "Multiple congential anomalies: preauricular pit, athelia bilaterally, anterior displacement of the anus, bilaternal 5th finger clinodactyly, vestibular/cochlear abnormalities, pituitary hypoplasia, hypotonia, knee contractures, choanal atresia, surfactant metabolism disorder, bronchopulmonary dysplasia - tracheostomy/G-tube dependent." "1d" "" "" "" "" "" "" "" "" "" ""
"0000238719" "00198" "00314967" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238720" "00198" "00314968" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238721" "00198" "00314969" "00006" "Familial" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238722" "00198" "00314970" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238723" "00198" "00314971" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238724" "00198" "00314972" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238725" "00198" "00314973" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238726" "00198" "00314974" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238727" "00198" "00314975" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238728" "00198" "00314976" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238729" "00198" "00314977" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238730" "00198" "00314978" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238731" "00198" "00314979" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238732" "00198" "00314980" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238733" "00198" "00314981" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238734" "00198" "00314982" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238735" "00198" "00314983" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238736" "00198" "00314984" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238737" "00198" "00314985" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238738" "00198" "00314986" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238739" "00198" "00314987" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238740" "00198" "00314988" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000238741" "00198" "00314989" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" ""
"0000241906" "00282" "00319496" "01164" "Unknown" "" "Sensory neuropathy, Muscular hypotonia, Global developmental delay, Abnormal muscle tone, Infantile muscular hypotonia, Peripheral neuropathy, Neurodevelopmental delay" "" "10y" "" "" "" "" "" "" "" "" ""
"0000241998" "05873" "00319896" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000241999" "05873" "00319897" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242000" "05873" "00319898" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242001" "05873" "00319899" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242002" "05873" "00319900" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242003" "05873" "00319901" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242004" "05873" "00319902" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242005" "05873" "00319903" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242006" "05873" "00319904" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242007" "05873" "00319905" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242008" "05873" "00319906" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242009" "05873" "00319907" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242010" "05873" "00319908" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242011" "05873" "00319909" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242012" "05873" "00319910" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242013" "05873" "00319911" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242014" "05873" "00319912" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242015" "00198" "00319913" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "autism spectrum disorder" ""
"0000242016" "00198" "00319914" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "congenital heart disease" ""
"0000242017" "05873" "00319915" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242018" "05873" "00319916" "00006" "Unknown" "" "see paper; ..., microcephaly, cleft lip/cleft palate (left-sided one twin, right-sided other twin), congenital heart disease" "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242019" "05873" "00319917" "00006" "Isolated (sporadic)" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000242020" "05873" "00319918" "00006" "Unknown" "" "see paper; ..." "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000250280" "00356" "00332089" "00000" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "syndromic microphthalmia" ""
"0000253098" "05793" "00334288" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253123" "05793" "00334313" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253134" "05793" "00334324" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253138" "05793" "00334343" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253178" "05793" "00334395" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253213" "05793" "00334500" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253214" "05793" "00334506" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253227" "05793" "00334537" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253233" "05793" "00334543" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253235" "05793" "00334545" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253247" "05793" "00334850" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253248" "05793" "00334851" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253259" "05793" "00334862" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253286" "05793" "00334944" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253298" "05793" "00335016" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253312" "05793" "00335030" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000253324" "05793" "00335042" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "COVID-19" ""
"0000257008" "00139" "00361603" "00006" "Isolated (sporadic)" "13y" "syndromic; global developmental delay, microphthalmia, horseshoe kidneys, PUJ obstruction, cleft palate" "" "" "" "" "" "" "" "" "" "intellectual disability" ""
"0000269325" "00198" "00374114" "00006" "Isolated (sporadic)" "<0d" "26w-fetus, ultrasound Hypoplastic left heart; autopsy Facial dysmorphism, hypoplastic left heart, left kidney hypoplasia, cleft palate; Hypoplastic left heart, neurodevelopmental defects not accessible" "" "" "" "" "" "" "" "" "" "multiple congenital abnormalities" ""
"0000269567" "00198" "00374357" "00006" "Familial, autosomal dominant" "" "Global developmental delay, failure to gain weight, long face, flared pinna, shallow orbits, nystagmus, cataract and cardiac abnormalities" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" ""
"0000269568" "00198" "00374358" "00006" "Familial, autosomal dominant" "" "Long palpebral fissures, low set ears, flat nose tip and small little finger" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" ""
"0000269569" "00198" "00374359" "00006" "Familial, autosomal dominant" "" "Features suggestive of Kabuki syndrome" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" ""
"0000280748" "00282" "00386951" "03830" "Familial, autosomal dominant" "01y" "Global developmental delay, cleft palate" "" "" "" "" "" "" "" "" "" "" ""
"0000291954" "00282" "00398856" "01164" "Unknown" "12y" "Generalized hypotonia, Abnormal periventricular white matter morphology, Microcephaly, Psychomotor retardation, Unilateral ptosis" "" "" "" "" "" "" "" "" "" "" ""
"0000310914" "00198" "00419633" "02300" "Isolated (sporadic)" "14y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000310915" "00198" "00419634" "02300" "Isolated (sporadic)" "2y" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" ""
"0000316114" "05873" "00424915" "03698" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "KABUK1" "KABUK1" ""
"0000324561" "00198" "00434203" "00006" "Familial, autosomal dominant" "4m" "chorioretinal coloboma; iris coloboma; esodeviation; ventricular septal defect; patent ductus arteriosus; congenital cystic adenomatoid malformation of the lung" "" "" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000325822" "00282" "00435638" "04087" "Isolated (sporadic)" "" "HP:0001650, HP:0001643, HP:0005176, HP:0006695, HP:0000089, HP:0025415, HP:0000125" "" "" "" "" "" "" "" "" "147920" "VACTERL Assotiation" ""
"0000325840" "00282" "00435656" "04087" "Isolated (sporadic)" "" "HP:0002144, HP:0002023, HP:0004383, HP:0010883, HP:0001655, HP:0011641, HP:0025516, HP:0000126, HP:0000072" "" "" "" "" "" "" "" "" "147920" "VACTERL Assotiation" ""
"0000327886" "00282" "00437982" "04531" "Familial, autosomal dominant" "" "" "" "02y" "" "" "" "" "" "" "" "" ""
"0000330288" "00198" "00440378" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome 1 (MIM #147920)" "" ""
"0000333113" "00198" "00443836" "00006" "Isolated (sporadic)" "" "bilateral choanal atresia, dysmorphic features" "" "" "" "" "" "" "" "" "" "" ""
"0000335927" "05611" "00446725" "00006" "Isolated (sporadic)" "17y" "see paper; ..., birth 35w; respiratory distress, ventilation support; no fetal hydrops/edema; no feeding difficulty, no failure to thrive; no spasticity extremities; no hypotonia; no recurrent infections; renal tubular acidosis, nephrocalcinosis; no cardiac defect; no sketelal anomalies; bilateral clubfoot, proximally placed trigger thumbs, brachydactyly, 5th toe clinodactyly, overriding 2nd toe; no corpus callosum agenesis/hypoplasia; no seizures, EEG normal; delayed motor development, y-walk; mild intellectual disability; speech delay; no behavioural problems; yes, myopia; no hearing problems; high pain treshold; upslanted eyes, narrow, fullness of the medial two thirds upper eyelids, stabismus, esotropia, glaucoma; long face; broad, square chin; large nose, high and straight nasal ridge, broad nasal base, long columella, mildly hypoplastic alae nasi; high arced palate, thin upper lip, long, deeply grooved philtrum; no dental anomalies; ears mildly low set, attached lobules; abnormal dermatoglyphics of palms, dry hair; no haematological problems; bilateral hydrocele, inguinal hernia" "" "" "" "" "" "" "" "" "GDACCF" "neurodevelopmental delay" ""
"0000342442" "00152" "00453785" "00006" "Unknown" "" "ascending aortic replacement; large ascending aneurysm" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" ""
"0000342456" "00152" "00453799" "00006" "Unknown" "" "mitral valve prolapse" "" "" "" "" "" "" "" "" "" "bicuspid aortic valve" ""
"0000344372" "00198" "00455839" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "KABUK1" "neurogenetic diseases" ""
"0000346277" "00152" "00457828" "03544" "Isolated (sporadic)" "" "HP:0001719, HP:0001627" "" "" "" "" "" "" "" "" "KABUK1" "double outlet right ventricle" ""
"0000346279" "05873" "00457831" "03544" "Isolated (sporadic)" "" "HP:0002023, HP:0000252, HP:0012443, HP:0001508, HP:0500093, HP:0000271" "" "" "" "" "" "" "" "" "KABUK1" "" ""
"0000346547" "05873" "00458100" "03544" "Isolated (sporadic)" "" "HP:0004467, HP:0009062, HP:0001382, HP:0000248, HP:0000637" "" "" "" "" "" "" "" "" "KABUK1" "" ""
"0000350859" "00282" "00465306" "01164" "Isolated (sporadic)" "00y04m" "Neurodevelopmental delay, Patent foramen ovale, High, narrow palate, Thin vermilion border, Wide nasal bridge, Narrow nose, Feeding difficulties, Abnormal visual fixation, Hip dysplasia, Joint hypermobility, Horizontal nystagmus, Facial hypotonia, Hypotonia, Deviated nasal septum" "" "" "" "" "" "" "" "" "" "" ""
"0000351458" "05611" "00466072" "03544" "Isolated (sporadic)" "" "HP:0001256, HP:0001363" "" "" "" "" "" "" "" "" "KABUK1" "craniosynostosis" ""
"0000354199" "00198" "00469046" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the nervous system" ""
"0000354200" "00198" "00469047" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" ""
"0000354201" "00198" "00469048" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" ""
"0000354202" "00198" "00469049" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" ""
"0000354203" "00198" "00469050" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" ""
"0000354204" "00198" "00469051" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "abnormality of the immune system" ""
"0000354205" "00198" "00469052" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" ""
"0000354268" "00198" "00469115" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "multiple congenital anomalies" ""
"0000356892" "05873" "00472083" "00006" "Isolated (sporadic)" "5y" "see paper; ..., long palpebral fissures, short nasal septum, arching eyebrows; normal eye; normal mouth; no skeletal anomalies; normal hands; hearing loss, developmental delay; atrial septal defect; feeding difficulties; no urogenital anomalies; no short stature" "" "1y" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000356893" "05873" "00472084" "00006" "Isolated (sporadic)" "13m" "see paper; ..., long palpebral fissures with lateral eversion of eyelid; normal eye; thin upper lip vermilion; sacral dimple with hair tuft; 5th finger clinodactyly, tapering fingers, abnormal palmar creases, fleshy finger pads; developmental delay; no cardiovascular anomalies; feeding difficulties; dysplastic left kidney, renal cysts in right; short stature: 5th percentile in height" "" "6m" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000356894" "05873" "00472085" "00006" "Isolated (sporadic)" "7m" "see paper; ..., arched eyebrows; long eyelashes, blue sclerae; developmentally delayed; heart murmur, ventricular septal defect; imperforate anus, gerd; undescended testes; low weight and height" "" "7m" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000356895" "05873" "00472086" "00006" "Isolated (sporadic)" "3y" "see paper; ..., long palpebral fissures, short nasal septum, low set ear; normal eye; normal mouth; no skeletal anomalies; normal hands; hearing loss, developmental delay; no cardiovascular anomalies; feeding difficulties; no urogenital anomalies; no short stature" "" "18m" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
"0000356896" "05873" "00472087" "00006" "Isolated (sporadic)" "9m" "see paper; ..., long palpebral fissures; normal eye; normal mouth; sacral dimple; normal hands; developmental delay; one umbilical artery; feeding difficulties; no urogenital anomalies; no short stature" "" "9m" "" "" "" "" "" "" "KABUK1" "Kabuki syndrome" ""
## Screenings ## Do not remove or alter this header ##
## Count = 1106
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000019608" "00019621" "1" "00669" "00669" "2014-02-27 12:08:02" "" "" "SEQ" "DNA" "" ""
"0000019609" "00019622" "1" "00669" "00669" "2014-02-27 12:42:02" "" "" "SEQ" "DNA" "" ""
"0000019610" "00019623" "1" "00669" "00669" "2014-02-27 13:30:59" "" "" "SEQ" "DNA" "" ""
"0000019611" "00019624" "1" "00669" "00669" "2014-02-27 13:50:03" "" "" "SEQ" "DNA" "" ""
"0000019612" "00019625" "1" "00669" "00669" "2014-02-27 14:05:32" "" "" "SEQ" "DNA" "" ""
"0000019613" "00019626" "1" "00669" "00669" "2014-02-27 14:31:05" "" "" "SEQ" "DNA" "" ""
"0000019614" "00019627" "1" "00669" "00669" "2014-02-27 14:51:44" "" "" "SEQ" "DNA" "" ""
"0000019615" "00019628" "1" "00669" "00669" "2014-02-27 14:57:32" "00669" "2014-02-27 16:57:42" "SEQ" "DNA" "" ""
"0000019616" "00019629" "1" "00669" "00669" "2014-02-27 15:01:16" "" "" "SEQ" "DNA" "" ""
"0000019617" "00019630" "1" "00669" "00669" "2014-02-27 15:05:24" "" "" "SEQ" "DNA" "" ""
"0000019618" "00019631" "1" "00669" "00669" "2014-02-27 15:08:18" "" "" "SEQ" "DNA" "" ""
"0000019619" "00019632" "1" "00669" "00669" "2014-02-27 15:11:39" "" "" "SEQ" "DNA" "" ""
"0000019620" "00019633" "1" "00669" "00669" "2014-02-27 15:16:53" "" "" "SEQ" "DNA" "" ""
"0000019621" "00019634" "1" "00669" "00669" "2014-02-27 15:19:10" "" "" "SEQ" "DNA" "" ""
"0000019622" "00019635" "1" "00669" "00669" "2014-02-27 15:21:33" "" "" "SEQ" "DNA" "" ""
"0000019623" "00019636" "1" "00669" "00669" "2014-02-27 15:24:29" "" "" "SEQ" "DNA" "" ""
"0000019624" "00019637" "1" "00669" "00669" "2014-02-27 15:28:05" "" "" "SEQ" "DNA" "" ""
"0000019625" "00019638" "1" "00669" "00669" "2014-02-27 15:31:32" "" "" "SEQ" "DNA" "" ""
"0000019626" "00019639" "1" "00669" "00669" "2014-02-27 15:34:12" "" "" "SEQ" "DNA" "" ""
"0000019627" "00019640" "1" "00669" "00669" "2014-02-27 15:36:48" "" "" "SEQ" "DNA" "" ""
"0000019628" "00019641" "1" "00669" "00669" "2014-02-27 15:51:59" "" "" "SEQ" "DNA" "" ""
"0000019629" "00019642" "1" "00669" "00669" "2014-02-27 15:54:56" "" "" "SEQ" "DNA" "" ""
"0000019630" "00019643" "1" "00669" "00669" "2014-02-27 15:58:15" "" "" "SEQ" "DNA" "" ""
"0000019631" "00019644" "1" "00669" "00669" "2014-02-27 16:00:44" "" "" "SEQ" "DNA" "" ""
"0000019632" "00019645" "1" "00669" "00669" "2014-02-27 16:02:37" "" "" "SEQ" "DNA" "" ""
"0000019633" "00019646" "1" "00669" "00669" "2014-02-27 16:05:29" "" "" "SEQ" "DNA" "" ""
"0000019634" "00019647" "1" "00669" "00669" "2014-02-27 16:07:36" "" "" "SEQ" "DNA" "" ""
"0000019635" "00019648" "1" "00669" "00669" "2014-02-27 16:10:49" "" "" "SEQ" "DNA" "" ""
"0000019636" "00019649" "1" "00669" "00669" "2014-02-27 16:12:52" "" "" "SEQ" "DNA" "" ""
"0000019637" "00019650" "1" "00669" "00669" "2014-02-27 16:15:13" "" "" "SEQ" "DNA" "" ""
"0000019638" "00019651" "1" "00669" "00669" "2014-02-27 16:18:18" "" "" "SEQ" "DNA" "" ""
"0000019639" "00019652" "1" "00669" "00669" "2014-02-27 16:21:03" "" "" "SEQ" "DNA" "" ""
"0000019640" "00019653" "1" "00669" "00669" "2014-02-27 16:23:34" "" "" "SEQ" "DNA" "" ""
"0000019641" "00019654" "1" "00669" "00669" "2014-02-27 16:27:08" "00006" "2014-08-15 14:47:22" "MLPA;PCR;SEQ" "DNA" "" ""
"0000019642" "00019655" "1" "00669" "00669" "2014-02-27 16:31:23" "" "" "SEQ" "DNA" "" ""
"0000019643" "00019656" "1" "00669" "00669" "2014-02-27 16:35:12" "" "" "SEQ" "DNA" "" ""
"0000019644" "00019657" "1" "00669" "00669" "2014-02-27 16:39:44" "" "" "SEQ" "DNA" "" ""
"0000019645" "00019658" "1" "00669" "00669" "2014-02-27 16:42:55" "" "" "SEQ" "DNA" "" ""
"0000019646" "00019659" "1" "00672" "00672" "2014-02-28 09:42:06" "" "" "SEQ" "DNA" "" ""
"0000019647" "00019660" "1" "00672" "00672" "2014-02-28 09:54:06" "" "" "SEQ" "DNA" "" ""
"0000019648" "00019661" "1" "00672" "00672" "2014-02-28 10:06:46" "" "" "SEQ" "DNA" "" ""
"0000019649" "00019662" "1" "00672" "00672" "2014-02-28 10:08:36" "" "" "SEQ" "DNA" "" ""
"0000019650" "00019663" "1" "00672" "00672" "2014-02-28 10:11:52" "" "" "SEQ" "DNA" "" ""
"0000019651" "00019664" "1" "00672" "00672" "2014-02-28 10:15:59" "" "" "SEQ" "DNA" "" ""
"0000019652" "00019665" "1" "00672" "00672" "2014-02-28 10:19:55" "" "" "SEQ" "DNA" "" ""
"0000019653" "00019666" "1" "00672" "00672" "2014-02-28 10:21:59" "" "" "SEQ" "DNA" "" ""
"0000019654" "00019667" "1" "00672" "00672" "2014-02-28 10:29:53" "" "" "SEQ" "DNA" "" ""
"0000019655" "00019668" "1" "00672" "00672" "2014-02-28 10:32:03" "" "" "SEQ" "DNA" "" ""
"0000019656" "00019669" "1" "00672" "00672" "2014-02-28 10:33:56" "" "" "SEQ" "DNA" "" ""
"0000019657" "00019670" "1" "00672" "00672" "2014-02-28 10:36:20" "" "" "SEQ" "DNA" "" ""
"0000019658" "00019671" "1" "00672" "00672" "2014-02-28 10:38:56" "" "" "SEQ" "DNA" "" ""
"0000019660" "00019673" "1" "00672" "00672" "2014-02-28 10:56:05" "" "" "SEQ" "DNA" "" ""
"0000019661" "00019674" "1" "00672" "00672" "2014-02-28 11:00:14" "" "" "SEQ" "DNA" "" ""
"0000019662" "00019675" "1" "00672" "00672" "2014-02-28 11:02:08" "" "" "SEQ" "DNA" "" ""
"0000019663" "00019676" "1" "00672" "00672" "2014-02-28 12:12:03" "" "" "SEQ" "DNA" "" ""
"0000019664" "00019677" "1" "00672" "00672" "2014-02-28 12:16:26" "" "" "SEQ" "DNA" "" ""
"0000019665" "00019678" "1" "00672" "00672" "2014-02-28 12:20:06" "" "" "SEQ" "DNA" "" ""
"0000019666" "00019679" "1" "00672" "00672" "2014-02-28 12:21:54" "" "" "SEQ" "DNA" "" ""
"0000019667" "00019680" "1" "00672" "00672" "2014-02-28 12:24:19" "" "" "SEQ" "DNA" "" ""
"0000019668" "00019681" "1" "00672" "00672" "2014-02-28 13:34:51" "" "" "SEQ" "DNA" "" ""
"0000019669" "00019682" "1" "00672" "00672" "2014-02-28 13:37:26" "00006" "2014-08-15 13:48:36" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019670" "00019683" "1" "00672" "00672" "2014-02-28 13:40:37" "00006" "2014-08-15 13:51:43" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019671" "00019684" "1" "00672" "00672" "2014-02-28 13:43:24" "00006" "2014-08-15 13:55:32" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019672" "00019685" "1" "00672" "00672" "2014-02-28 13:45:44" "" "" "SEQ" "DNA" "" ""
"0000019673" "00019686" "1" "00672" "00672" "2014-02-28 13:48:43" "00006" "2014-08-15 13:58:11" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019674" "00019687" "1" "00672" "00672" "2014-02-28 13:50:48" "00006" "2014-08-15 14:02:00" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019675" "00019688" "1" "00672" "00672" "2014-02-28 13:54:15" "00006" "2014-08-15 14:13:38" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019676" "00019689" "1" "00672" "00672" "2014-02-28 13:56:51" "00006" "2014-08-15 14:18:57" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019677" "00019690" "1" "00006" "00006" "2014-08-15 14:56:20" "" "" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019678" "00019691" "1" "00006" "00006" "2014-08-15 15:11:23" "00006" "2014-08-15 15:16:20" "RT-PCR;SEQ" "DNA;RNA" "" ""
"0000019679" "00019692" "1" "00006" "00006" "2014-08-15 15:19:08" "" "" "RT-PCR" "DNA;RNA" "" ""
"0000019680" "00019693" "1" "00006" "00006" "2014-08-15 15:23:14" "" "" "SEQ" "DNA" "" ""
"0000019681" "00019694" "1" "00006" "00006" "2014-08-15 15:38:36" "" "" "SEQ" "DNA" "" ""
"0000019682" "00019695" "1" "00006" "00006" "2014-08-15 15:40:51" "" "" "SEQ" "DNA" "" ""
"0000019683" "00019696" "1" "00006" "00006" "2014-08-15 15:44:24" "" "" "SEQ" "DNA" "" ""
"0000036231" "00036161" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036232" "00036162" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036233" "00036163" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036234" "00036164" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036235" "00036165" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036236" "00036166" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036237" "00036167" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036238" "00036168" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036239" "00036169" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036240" "00036170" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036241" "00036171" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036242" "00036172" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036243" "00036173" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036244" "00036174" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036245" "00036175" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036246" "00036176" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036247" "00036177" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036248" "00036178" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036249" "00036179" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036250" "00036180" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036251" "00036181" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036252" "00036182" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036253" "00036183" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036254" "00036184" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036255" "00036185" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036256" "00036186" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036257" "00036187" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036258" "00036188" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036259" "00036189" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036260" "00036190" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036261" "00036191" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036262" "00036192" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036263" "00036193" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036264" "00036194" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036265" "00036195" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036266" "00036196" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000036267" "00036197" "1" "01164" "00008" "2015-04-02 13:01:39" "" "" "SEQ" "DNA" "" ""
"0000047994" "00047868" "1" "01380" "01380" "2015-08-30 22:11:15" "" "" "SEQ" "DNA" "blood" ""
"0000047995" "00047869" "1" "01380" "01380" "2015-08-30 22:25:45" "" "" "SEQ" "DNA" "blood" ""
"0000047996" "00047870" "1" "01380" "01380" "2015-08-30 22:32:45" "" "" "SEQ" "DNA" "blood" ""
"0000050436" "00050491" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000050471" "00050526" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000056462" "00056501" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056463" "00056502" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056464" "00056503" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056465" "00056504" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056466" "00056505" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056467" "00056506" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056468" "00056507" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056469" "00056508" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056470" "00056509" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056471" "00056510" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056472" "00056511" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056473" "00056512" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056474" "00056513" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056475" "00056514" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056476" "00056515" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056477" "00056516" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056478" "00056517" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056479" "00056518" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056480" "00056519" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056481" "00056520" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056482" "00056521" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056483" "00056522" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056484" "00056523" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056485" "00056524" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056486" "00056525" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056487" "00056526" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056488" "00056527" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056489" "00056528" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056490" "00056529" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056491" "00056530" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056492" "00056531" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056493" "00056532" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056494" "00056533" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056495" "00056534" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056496" "00056535" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056497" "00056536" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056498" "00056537" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056499" "00056538" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056500" "00056539" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056501" "00056540" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056502" "00056541" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056503" "00056542" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056504" "00056543" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056505" "00056544" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056640" "00056679" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056641" "00056680" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056642" "00056681" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056643" "00056682" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056644" "00056683" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056645" "00056684" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056646" "00056685" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056647" "00056686" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056648" "00056687" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056649" "00056688" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056650" "00056689" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056651" "00056690" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056652" "00056691" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056653" "00056692" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056654" "00056693" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056655" "00056694" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056656" "00056695" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056657" "00056696" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056661" "00056700" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056662" "00056701" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056670" "00056709" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056672" "00056711" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056673" "00056712" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056674" "00056713" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056675" "00056714" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056676" "00056715" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056680" "00056719" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056682" "00056721" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056683" "00056722" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056684" "00056723" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056685" "00056724" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056686" "00056725" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056687" "00056726" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056688" "00056727" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056814" "00056853" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056844" "00056883" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056847" "00056886" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056850" "00056889" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056852" "00056891" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056853" "00056892" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056854" "00056893" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056855" "00056894" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056856" "00056895" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056868" "00056907" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056869" "00056908" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056871" "00056910" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056872" "00056911" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056873" "00056912" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056874" "00056913" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056875" "00056914" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056876" "00056915" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056877" "00056916" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056878" "00056917" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056880" "00056919" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056881" "00056920" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056882" "00056921" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056883" "00056922" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056884" "00056923" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056885" "00056924" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056886" "00056925" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056887" "00056926" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056888" "00056927" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056889" "00056928" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056890" "00056929" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056891" "00056930" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056892" "00056931" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056893" "00056932" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056894" "00056933" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056895" "00056934" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056896" "00056935" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056897" "00056936" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056898" "00056937" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056899" "00056938" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056900" "00056939" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056901" "00056940" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056902" "00056941" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056903" "00056942" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056904" "00056943" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056905" "00056944" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056906" "00056945" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056907" "00056946" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056908" "00056947" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056911" "00056950" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056912" "00056951" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056913" "00056952" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056914" "00056953" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056915" "00056954" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056916" "00056955" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056917" "00056956" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056919" "00056958" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056920" "00056959" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056921" "00056960" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056922" "00056961" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056923" "00056962" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056924" "00056963" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056925" "00056964" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000056927" "00056966" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056928" "00056967" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056929" "00056968" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056930" "00056969" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056931" "00056970" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056932" "00056971" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056933" "00056972" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000056934" "00056973" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
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"0000057113" "00057152" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000057114" "00057153" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000057115" "00057154" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000057116" "00057155" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000057117" "00057156" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000057118" "00057157" "1" "01484" "00006" "2016-01-12 04:31:37" "" "" "SEQ" "DNA" "" ""
"0000073493" "00073334" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073494" "00073335" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073495" "00073336" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073496" "00073337" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073497" "00073338" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073498" "00073339" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073499" "00073340" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073500" "00073341" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073501" "00073342" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073502" "00073343" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073503" "00073344" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073504" "00073345" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073505" "00073346" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073506" "00073347" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073507" "00073348" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073508" "00073349" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073509" "00073350" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073510" "00073351" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073511" "00073352" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073512" "00073353" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073513" "00073354" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073514" "00073355" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073515" "00073356" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073516" "00073357" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073517" "00073358" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073518" "00073359" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073519" "00073360" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073520" "00073361" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073521" "00073362" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073522" "00073363" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073523" "00073364" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073524" "00073365" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073525" "00073366" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073526" "00073367" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073527" "00073368" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073528" "00073369" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073529" "00073370" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073530" "00073371" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073531" "00073372" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073532" "00073373" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073533" "00073374" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073534" "00073375" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073535" "00073376" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073536" "00073377" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073537" "00073378" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073538" "00073379" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073539" "00073380" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073540" "00073381" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073541" "00073382" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073542" "00073383" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073543" "00073384" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073544" "00073385" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073545" "00073386" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073546" "00073387" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073547" "00073388" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073548" "00073389" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073549" "00073390" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073550" "00073391" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073551" "00073392" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073552" "00073393" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073553" "00073394" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073554" "00073395" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073555" "00073396" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073556" "00073397" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073557" "00073398" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073558" "00073399" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073559" "00073400" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073560" "00073401" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073561" "00073402" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073562" "00073403" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073563" "00073404" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073564" "00073405" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073565" "00073406" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073566" "00073407" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073567" "00073408" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073568" "00073409" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073569" "00073410" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073570" "00073411" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073571" "00073412" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073572" "00073413" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073573" "00073414" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073574" "00073415" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073575" "00073416" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073576" "00073417" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073577" "00073418" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073578" "00073419" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073579" "00073420" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073580" "00073421" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073581" "00073422" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073582" "00073423" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073583" "00073424" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073584" "00073425" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073585" "00073426" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073586" "00073427" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073587" "00073428" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073588" "00073429" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073589" "00073430" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073590" "00073431" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073591" "00073432" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073592" "00073433" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073593" "00073434" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073594" "00073435" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073595" "00073436" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073596" "00073437" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073597" "00073438" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073598" "00073439" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073599" "00073440" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073600" "00073441" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073601" "00073442" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073602" "00073443" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073603" "00073444" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073604" "00073445" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073605" "00073446" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073606" "00073447" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073607" "00073448" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073608" "00073449" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073609" "00073450" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073610" "00073451" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073611" "00073452" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073612" "00073453" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073613" "00073454" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073614" "00073455" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073615" "00073456" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073616" "00073457" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073617" "00073458" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073618" "00073459" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073619" "00073460" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073620" "00073461" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073621" "00073462" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073622" "00073463" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073623" "00073464" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073624" "00073465" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073625" "00073466" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073626" "00073467" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073627" "00073468" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073628" "00073469" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073629" "00073470" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073630" "00073471" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073631" "00073472" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073632" "00073473" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073633" "00073474" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073634" "00073475" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073635" "00073476" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073636" "00073477" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073637" "00073478" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073638" "00073479" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073639" "00073480" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073640" "00073481" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073641" "00073482" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073642" "00073483" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073643" "00073484" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073644" "00073485" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073645" "00073486" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073646" "00073487" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073647" "00073488" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073648" "00073489" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073649" "00073490" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073650" "00073491" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073651" "00073492" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073652" "00073493" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073653" "00073494" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073654" "00073495" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073655" "00073496" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073656" "00073497" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073657" "00073498" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073658" "00073499" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073659" "00073500" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073660" "00073501" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073661" "00073502" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073662" "00073503" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073663" "00073504" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073664" "00073505" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073665" "00073506" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073666" "00073507" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073667" "00073508" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073668" "00073509" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073669" "00073510" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073670" "00073511" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073671" "00073512" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073672" "00073513" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073673" "00073514" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073674" "00073515" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073675" "00073516" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073676" "00073517" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073677" "00073518" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073678" "00073519" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073679" "00073520" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073680" "00073521" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073681" "00073522" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073682" "00073523" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073683" "00073524" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073684" "00073525" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073685" "00073526" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073686" "00073527" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073687" "00073528" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073688" "00073529" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073689" "00073530" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073690" "00073531" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073691" "00073532" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073692" "00073533" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073693" "00073534" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073694" "00073535" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073695" "00073536" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073696" "00073537" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073697" "00073538" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073698" "00073539" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073699" "00073540" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073700" "00073541" "1" "01671" "01671" "2016-05-30 09:32:44" "" "" "SEQ" "DNA" "" ""
"0000073701" "00073542" "1" "01380" "00006" "2016-06-10 22:32:56" "" "" "SEQ" "DNA" "" ""
"0000073702" "00073543" "1" "01380" "00006" "2016-06-10 22:37:15" "" "" "SEQ" "DNA" "" ""
"0000073703" "00073544" "1" "01380" "00006" "2016-06-10 22:39:40" "" "" "SEQ" "DNA" "" ""
"0000073705" "00073545" "1" "00006" "00006" "2016-06-10 22:48:58" "" "" "SEQ" "DNA" "" ""
"0000073706" "00073546" "1" "00006" "00006" "2016-06-10 22:51:27" "" "" "SEQ" "DNA" "" ""
"0000073707" "00073547" "1" "00006" "00006" "2016-06-10 22:53:13" "" "" "SEQ" "DNA" "" ""
"0000073708" "00073548" "1" "00006" "00006" "2016-06-10 22:54:47" "" "" "SEQ" "DNA" "" ""
"0000100595" "00100191" "1" "01744" "01744" "2017-02-03 09:56:10" "" "" "SEQ;SEQ-NG-R" "DNA" "blood" ""
"0000102545" "00102094" "1" "01864" "01864" "2017-03-30 10:28:14" "" "" "SEQ;SEQ-NG-I" "DNA" "blood" ""
"0000104480" "00104009" "1" "00587" "00006" "2017-04-28 08:15:46" "" "" "SEQ-NG" "DNA" "" ""
"0000174627" "00173736" "1" "02541" "02541" "2018-07-31 14:32:41" "" "" "SEQ-NG" "DNA" "" ""
"0000184628" "00183660" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel"
"0000184646" "00183678" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel"
"0000184651" "00183683" "1" "00006" "00006" "2018-10-27 10:06:27" "" "" "SEQ;SEQ-NG" "DNA" "" "1256 gene panel"
"0000208386" "00207350" "1" "03112" "03112" "2018-11-20 10:58:14" "" "" "SEQ-NG" "DNA" "" ""
"0000208959" "00207914" "1" "03117" "03117" "2018-12-04 11:36:31" "" "" "SEQ" "DNA" "blood" ""
"0000208960" "00207915" "1" "03117" "03117" "2018-12-04 11:44:14" "" "" "SEQ" "DNA" "blood" ""
"0000208961" "00207917" "1" "03117" "03117" "2018-12-04 11:54:59" "" "" "SEQ" "DNA" "blood" ""
"0000208962" "00207918" "1" "03117" "03117" "2018-12-04 11:58:37" "" "" "SEQ" "DNA" "blood" ""
"0000208964" "00207919" "1" "03117" "03117" "2018-12-04 12:01:20" "" "" "SEQ" "DNA" "blood" ""
"0000226532" "00225453" "1" "00006" "00006" "2019-02-16 14:29:08" "" "" "SEQ;SEQ-NG" "DNA" "" "quad WES"
"0000277192" "00276045" "1" "01807" "01807" "2020-01-24 11:02:50" "" "" "SEQ" "DNA" "" ""
"0000290521" "00289351" "1" "01164" "01164" "2020-03-05 10:31:57" "" "" "SEQ-NG-S" "DNA" "" ""
"0000290526" "00289356" "1" "01807" "01807" "2020-03-05 10:32:06" "" "" "SEQ" "DNA" "" ""
"0000291885" "00290717" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291886" "00290718" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291887" "00290719" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291888" "00290720" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291889" "00290721" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291890" "00290722" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291891" "00290723" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291892" "00290724" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291893" "00290725" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291894" "00290726" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000291895" "00290727" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296425" "00295257" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000296805" "00295633" "1" "03626" "03626" "2020-03-21 11:49:57" "" "" "SEQ-NG-I" "DNA" "" ""
"0000302221" "00301099" "1" "01807" "01807" "2020-05-07 10:15:01" "" "" "SEQ" "DNA" "" ""
"0000304188" "00303063" "1" "01164" "01164" "2020-06-05 14:41:01" "" "" "SEQ-NG-S" "DNA" "" ""
"0000305489" "00304360" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305490" "00304361" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000305491" "00304362" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0"
"0000307069" "00305938" "1" "03695" "03695" "2020-07-05 20:29:58" "" "" "SEQ-NG" "DNA" "" ""
"0000307346" "00306213" "1" "03695" "03695" "2020-07-11 09:39:05" "" "" "SEQ-NG" "DNA" "" ""
"0000307364" "00306231" "1" "03695" "03695" "2020-07-11 11:12:17" "" "" "SEQ-NG" "DNA" "" ""
"0000307366" "00306233" "1" "03695" "03695" "2020-07-11 11:17:21" "" "" "SEQ-NG" "DNA" "" ""
"0000308283" "00307142" "1" "03753" "03753" "2020-08-04 07:20:11" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "gene panel"
"0000308287" "00307145" "1" "03753" "03753" "2020-08-04 20:52:23" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" ""
"0000308399" "00307257" "1" "03753" "03753" "2020-08-06 23:25:39" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308404" "00307262" "1" "03753" "03753" "2020-08-07 04:11:37" "" "" "SEQ-NG-I" "DNA" "blood/FFPE tumor" "160 genes"
"0000308893" "00307753" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel"
"0000312646" "00311476" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312647" "00311477" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312648" "00311478" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312683" "00311513" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312684" "00311514" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312685" "00311515" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312686" "00311516" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312687" "00311517" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312688" "00311518" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312689" "00311519" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312690" "00311520" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312691" "00311521" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312692" "00311522" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312693" "00311523" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312694" "00311524" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312695" "00311525" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312696" "00311526" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312697" "00311527" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312698" "00311528" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312699" "00311529" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312700" "00311530" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312701" "00311531" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312702" "00311532" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312703" "00311533" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312704" "00311534" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312705" "00311535" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312706" "00311536" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312707" "00311537" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312708" "00311538" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312709" "00311539" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312710" "00311540" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312711" "00311541" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312712" "00311542" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312713" "00311543" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312714" "00311544" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312715" "00311545" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312716" "00311546" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312717" "00311547" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312718" "00311548" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312719" "00311549" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000312720" "00311550" "1" "00006" "00006" "2020-09-25 14:39:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000316081" "00314907" "1" "00006" "00006" "2020-10-20 15:09:17" "" "" "SEQ;SEQ-NG" "DNA" "" "trio WES"
"0000316143" "00314967" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316144" "00314968" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316145" "00314969" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316146" "00314970" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316147" "00314971" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316148" "00314972" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316149" "00314973" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316150" "00314974" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316151" "00314975" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316152" "00314976" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316153" "00314977" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316154" "00314978" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316155" "00314979" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316156" "00314980" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316157" "00314981" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316158" "00314982" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316159" "00314983" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316160" "00314984" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316161" "00314985" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316162" "00314986" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316163" "00314987" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316164" "00314988" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000316165" "00314989" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel"
"0000320677" "00319496" "1" "01164" "01164" "2020-11-06 15:32:17" "" "" "SEQ-NG-I" "DNA" "" ""
"0000321077" "00319896" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321078" "00319897" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321079" "00319898" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321080" "00319899" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321081" "00319900" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321082" "00319901" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321083" "00319902" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321084" "00319903" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321085" "00319904" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321086" "00319905" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321087" "00319906" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321088" "00319907" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321089" "00319908" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321090" "00319909" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321091" "00319910" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321092" "00319911" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321093" "00319912" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321094" "00319913" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321095" "00319914" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "SEQ" "DNA" "" ""
"0000321096" "00319915" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "arrayCGH;MLPA" "DNA" "" ""
"0000321097" "00319916" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "MLPA" "DNA" "" ""
"0000321098" "00319917" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "MLPA" "DNA" "" ""
"0000321099" "00319918" "1" "00006" "00006" "2020-11-10 14:11:10" "" "" "MLPA" "DNA" "" ""
"0000333309" "00332089" "1" "00000" "00006" "2021-02-15 09:08:25" "" "" "SEQ-NG" "DNA" "" ""
"0000335514" "00334288" "1" "04011" "04011" "2021-02-27 03:25:35" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335541" "00334313" "1" "04011" "04011" "2021-02-27 07:33:49" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335552" "00334324" "1" "04011" "04011" "2021-02-27 14:24:46" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335571" "00334343" "1" "04011" "04011" "2021-02-28 03:01:06" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335624" "00334395" "1" "04011" "04011" "2021-02-28 12:10:25" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335729" "00334500" "1" "04011" "04011" "2021-03-01 07:35:19" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335736" "00334506" "1" "04011" "04011" "2021-03-01 09:43:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335766" "00334537" "1" "04011" "04011" "2021-03-01 13:15:39" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335772" "00334543" "1" "04011" "04011" "2021-03-01 13:55:37" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000335774" "00334545" "1" "04011" "04011" "2021-03-01 14:26:33" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336078" "00334850" "1" "04011" "04011" "2021-03-02 03:15:23" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336080" "00334851" "1" "04011" "04011" "2021-03-02 03:39:59" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336091" "00334862" "1" "04011" "04011" "2021-03-02 07:32:34" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336173" "00334944" "1" "04011" "04011" "2021-03-02 14:20:54" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336245" "00335016" "1" "04011" "04011" "2021-03-03 02:53:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336259" "00335030" "1" "04011" "04011" "2021-03-03 04:40:31" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000336271" "00335042" "1" "04011" "04011" "2021-03-03 06:38:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES"
"0000362831" "00361603" "1" "00006" "00006" "2021-04-07 19:07:03" "" "" "SEQ-NG" "DNA" "" "WES"
"0000375307" "00374114" "1" "00006" "00006" "2021-05-23 14:33:57" "" "" "SEQ-NG" "DNA" "" "WES"
"0000375551" "00374357" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000375552" "00374358" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000375553" "00374359" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel"
"0000388178" "00386951" "1" "03830" "03830" "2021-10-28 09:59:23" "" "" "SEQ-NG" "DNA" "blood" "WGS"
"0000392836" "00391594" "1" "02494" "02494" "2021-11-18 12:44:43" "" "" "SEQ-NG" "DNA" "" "WES"
"0000400098" "00398856" "1" "01164" "01164" "2022-01-13 17:17:11" "" "" "SEQ-NG-I" "DNA" "" ""
"0000420937" "00419633" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing"
"0000420938" "00419634" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing"
"0000420986" "00419681" "1" "04404" "04404" "2022-10-21 11:47:46" "" "" "SEQ-NG" "DNA" "blood" ""
"0000426233" "00424915" "1" "03698" "03698" "2022-11-23 10:32:41" "" "" "SEQ-NG" "DNA" "" ""
"0000435671" "00434203" "1" "00006" "00006" "2023-03-22 17:30:10" "" "" "SEQ-NG" "DNA" "" "gene panel"
"0000437119" "00435638" "1" "04087" "04087" "2023-08-07 11:41:00" "" "" "SEQ-NG" "DNA" "Blood" "WES"
"0000437137" "00435656" "1" "04087" "04087" "2023-08-07 12:33:39" "" "" "SEQ-NG" "DNA" "Blood" ""
"0000439466" "00437982" "1" "04531" "04531" "2023-10-19 11:42:10" "" "" "SEQ-NG" "DNA" "" ""
"0000441863" "00440378" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000445333" "00443836" "1" "00006" "00006" "2023-12-03 11:44:16" "" "" "arraySNP;SEQ-NG" "DNA" "" "WES"
"0000448300" "00446725" "1" "00006" "00006" "2024-01-22 13:14:03" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000455397" "00453785" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000455411" "00453799" "1" "00006" "00006" "2024-09-11 19:50:28" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000457455" "00455839" "1" "00006" "00006" "2024-10-20 15:03:37" "" "" "SEQ-NG" "DNA" "" "WES"
"0000459448" "00457828" "1" "03544" "03544" "2024-11-20 07:11:19" "" "" "SEQ-NG-I" "DNA" "amniocytes" "CES"
"0000459451" "00457831" "1" "03544" "03544" "2024-11-20 11:28:01" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES"
"0000459718" "00458100" "1" "03544" "03544" "2024-11-29 12:43:21" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES"
"0000466954" "00465306" "1" "01164" "01164" "2025-05-08 17:30:03" "" "" "SEQ-NG-I" "DNA" "Blood" ""
"0000467729" "00466072" "1" "03544" "03544" "2025-07-26 12:57:47" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES"
"0000470714" "00469046" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470715" "00469047" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470716" "00469048" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470717" "00469049" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470718" "00469050" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470719" "00469051" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470720" "00469052" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000470783" "00469115" "1" "00006" "00006" "2025-11-13 13:02:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000473753" "00472083" "1" "00006" "00006" "2026-01-07 11:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000473754" "00472084" "1" "00006" "00006" "2026-01-07 11:45:49" "" "" "SEQ" "DNA" "" ""
"0000473755" "00472085" "1" "00006" "00006" "2026-01-07 11:45:49" "" "" "SEQ" "DNA" "" ""
"0000473756" "00472086" "1" "00006" "00006" "2026-01-07 11:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000473757" "00472087" "1" "00006" "00006" "2026-01-07 11:45:49" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1041
"{{screeningid}}" "{{geneid}}"
"0000019608" "KMT2D"
"0000019609" "KMT2D"
"0000019610" "KMT2D"
"0000019611" "KMT2D"
"0000019612" "KMT2D"
"0000019613" "KMT2D"
"0000019614" "KMT2D"
"0000019615" "KMT2D"
"0000019616" "KMT2D"
"0000019617" "KMT2D"
"0000019618" "KMT2D"
"0000019619" "KMT2D"
"0000019620" "KMT2D"
"0000019621" "KMT2D"
"0000019622" "KMT2D"
"0000019623" "KMT2D"
"0000019624" "KMT2D"
"0000019625" "KMT2D"
"0000019626" "KMT2D"
"0000019627" "KMT2D"
"0000019628" "KMT2D"
"0000019629" "KMT2D"
"0000019630" "KMT2D"
"0000019631" "KMT2D"
"0000019632" "KMT2D"
"0000019633" "KMT2D"
"0000019634" "KMT2D"
"0000019635" "KMT2D"
"0000019636" "KMT2D"
"0000019637" "KMT2D"
"0000019638" "KMT2D"
"0000019639" "KMT2D"
"0000019640" "KMT2D"
"0000019641" "KMT2D"
"0000019642" "KMT2D"
"0000019643" "KMT2D"
"0000019644" "KMT2D"
"0000019645" "KMT2D"
"0000019646" "KMT2D"
"0000019647" "KMT2D"
"0000019648" "KMT2D"
"0000019649" "KMT2D"
"0000019650" "KMT2D"
"0000019651" "KMT2D"
"0000019652" "KMT2D"
"0000019653" "KMT2D"
"0000019654" "KMT2D"
"0000019655" "KMT2D"
"0000019656" "KMT2D"
"0000019657" "KMT2D"
"0000019658" "KMT2D"
"0000019660" "KMT2D"
"0000019661" "KMT2D"
"0000019662" "KMT2D"
"0000019663" "KMT2D"
"0000019664" "KMT2D"
"0000019665" "KMT2D"
"0000019666" "KMT2D"
"0000019667" "KMT2D"
"0000019668" "KMT2D"
"0000019669" "KMT2D"
"0000019670" "KMT2D"
"0000019671" "KMT2D"
"0000019672" "KMT2D"
"0000019673" "KMT2D"
"0000019674" "KMT2D"
"0000019675" "KMT2D"
"0000019676" "KMT2D"
"0000019677" "KMT2D"
"0000019678" "KMT2D"
"0000019679" "KMT2D"
"0000019680" "KMT2D"
"0000019681" "KMT2D"
"0000019682" "KMT2D"
"0000019683" "KMT2D"
"0000036231" "KMT2D"
"0000036232" "KMT2D"
"0000036233" "KMT2D"
"0000036234" "KMT2D"
"0000036235" "KMT2D"
"0000036236" "KMT2D"
"0000036237" "KMT2D"
"0000036238" "KMT2D"
"0000036239" "KMT2D"
"0000036240" "KMT2D"
"0000036241" "KMT2D"
"0000036242" "KMT2D"
"0000036243" "KMT2D"
"0000036244" "KMT2D"
"0000036245" "KMT2D"
"0000036246" "KMT2D"
"0000036247" "KMT2D"
"0000036248" "KMT2D"
"0000036249" "KMT2D"
"0000036250" "KMT2D"
"0000036251" "KMT2D"
"0000036252" "KMT2D"
"0000036253" "KMT2D"
"0000036254" "KMT2D"
"0000036255" "KMT2D"
"0000036256" "KMT2D"
"0000036257" "KMT2D"
"0000036258" "KMT2D"
"0000036259" "KMT2D"
"0000036260" "KMT2D"
"0000036261" "KMT2D"
"0000036262" "KMT2D"
"0000036263" "KMT2D"
"0000036264" "KMT2D"
"0000036265" "KMT2D"
"0000036266" "KMT2D"
"0000036267" "KMT2D"
"0000047994" "KMT2D"
"0000047995" "KMT2D"
"0000047996" "KMT2D"
"0000050436" "KMT2D"
"0000050471" "KMT2D"
"0000050471" "MID1"
"0000056462" "KMT2D"
"0000056463" "KMT2D"
"0000056464" "KMT2D"
"0000056465" "KMT2D"
"0000056466" "KMT2D"
"0000056467" "KMT2D"
"0000056468" "KMT2D"
"0000056469" "KMT2D"
"0000056470" "KMT2D"
"0000056471" "KMT2D"
"0000056472" "KMT2D"
"0000056473" "KMT2D"
"0000056474" "KMT2D"
"0000056475" "KMT2D"
"0000056476" "KMT2D"
"0000056477" "KMT2D"
"0000056478" "KMT2D"
"0000056479" "KMT2D"
"0000056480" "KMT2D"
"0000056481" "KMT2D"
"0000056482" "KMT2D"
"0000056483" "KMT2D"
"0000056484" "KMT2D"
"0000056485" "KMT2D"
"0000056486" "KMT2D"
"0000056487" "KMT2D"
"0000056488" "KMT2D"
"0000056489" "KMT2D"
"0000056490" "KMT2D"
"0000056491" "KMT2D"
"0000056492" "KMT2D"
"0000056493" "KMT2D"
"0000056494" "KMT2D"
"0000056495" "KMT2D"
"0000056496" "KMT2D"
"0000056497" "KMT2D"
"0000056498" "KMT2D"
"0000056499" "KMT2D"
"0000056500" "KMT2D"
"0000056501" "KMT2D"
"0000056502" "KMT2D"
"0000056503" "KMT2D"
"0000056504" "KMT2D"
"0000056505" "KMT2D"
"0000056506" "KMT2D"
"0000056507" "KMT2D"
"0000056508" "KMT2D"
"0000056509" "KMT2D"
"0000056510" "KMT2D"
"0000056511" "KMT2D"
"0000056512" "KMT2D"
"0000056513" "KMT2D"
"0000056514" "KMT2D"
"0000056515" "KMT2D"
"0000056516" "KMT2D"
"0000056517" "KMT2D"
"0000056518" "KMT2D"
"0000056519" "KMT2D"
"0000056520" "KMT2D"
"0000056521" "KMT2D"
"0000056522" "KMT2D"
"0000056523" "KMT2D"
"0000056524" "KMT2D"
"0000056525" "KMT2D"
"0000056526" "KMT2D"
"0000056527" "KMT2D"
"0000056528" "KMT2D"
"0000056529" "KMT2D"
"0000056530" "KMT2D"
"0000056531" "KMT2D"
"0000056532" "KMT2D"
"0000056533" "KMT2D"
"0000056534" "KMT2D"
"0000056535" "KMT2D"
"0000056536" "KMT2D"
"0000056537" "KMT2D"
"0000056538" "KMT2D"
"0000056539" "KMT2D"
"0000056540" "KMT2D"
"0000056541" "KMT2D"
"0000056542" "KMT2D"
"0000056543" "KMT2D"
"0000056544" "KMT2D"
"0000056545" "KMT2D"
"0000056546" "KMT2D"
"0000056547" "KMT2D"
"0000056548" "KMT2D"
"0000056549" "KMT2D"
"0000056550" "KMT2D"
"0000056551" "KMT2D"
"0000056552" "KMT2D"
"0000056553" "KMT2D"
"0000056554" "KMT2D"
"0000056555" "KMT2D"
"0000056556" "KMT2D"
"0000056557" "KMT2D"
"0000056558" "KMT2D"
"0000056559" "KMT2D"
"0000056560" "KMT2D"
"0000056561" "KMT2D"
"0000056564" "KMT2D"
"0000056565" "KMT2D"
"0000056566" "KMT2D"
"0000056567" "KMT2D"
"0000056568" "KMT2D"
"0000056570" "KMT2D"
"0000056571" "KMT2D"
"0000056572" "KMT2D"
"0000056573" "KMT2D"
"0000056574" "KMT2D"
"0000056576" "KMT2D"
"0000056577" "KMT2D"
"0000056578" "KMT2D"
"0000056579" "KMT2D"
"0000056580" "KMT2D"
"0000056581" "KMT2D"
"0000056582" "KMT2D"
"0000056583" "KMT2D"
"0000056584" "KMT2D"
"0000056585" "KMT2D"
"0000056586" "KMT2D"
"0000056587" "KMT2D"
"0000056588" "KMT2D"
"0000056589" "KMT2D"
"0000056590" "KMT2D"
"0000056591" "KMT2D"
"0000056592" "KMT2D"
"0000056593" "KMT2D"
"0000056594" "KMT2D"
"0000056598" "KMT2D"
"0000056599" "KMT2D"
"0000056600" "KMT2D"
"0000056601" "KMT2D"
"0000056602" "KMT2D"
"0000056603" "KMT2D"
"0000056604" "KMT2D"
"0000056605" "KMT2D"
"0000056606" "KMT2D"
"0000056607" "KMT2D"
"0000056608" "KMT2D"
"0000056609" "KMT2D"
"0000056610" "KMT2D"
"0000056611" "KMT2D"
"0000056612" "KMT2D"
"0000056613" "KMT2D"
"0000056614" "KMT2D"
"0000056615" "KMT2D"
"0000056616" "KMT2D"
"0000056617" "KMT2D"
"0000056618" "KMT2D"
"0000056619" "KMT2D"
"0000056620" "KMT2D"
"0000056621" "KMT2D"
"0000056622" "KMT2D"
"0000056623" "KMT2D"
"0000056624" "KMT2D"
"0000056625" "KMT2D"
"0000056626" "KMT2D"
"0000056627" "KMT2D"
"0000056628" "KMT2D"
"0000056629" "KMT2D"
"0000056630" "KMT2D"
"0000056631" "KMT2D"
"0000056632" "KMT2D"
"0000056633" "KMT2D"
"0000056634" "KMT2D"
"0000056635" "KMT2D"
"0000056636" "KMT2D"
"0000056637" "KMT2D"
"0000056638" "KMT2D"
"0000056639" "KMT2D"
"0000056640" "KMT2D"
"0000056641" "KMT2D"
"0000056642" "KMT2D"
"0000056643" "KMT2D"
"0000056644" "KMT2D"
"0000056645" "KMT2D"
"0000056646" "KMT2D"
"0000056647" "KMT2D"
"0000056648" "KMT2D"
"0000056649" "KMT2D"
"0000056650" "KMT2D"
"0000056651" "KMT2D"
"0000056652" "KMT2D"
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"0000100595" "TRPS1"
"0000102545" "KMT2D"
"0000174627" "KMT2D"
"0000184628" "KMT2D"
"0000184646" "KMT2D"
"0000184651" "KMT2D"
"0000208386" "KMT2D"
"0000208959" "KMT2D"
"0000208960" "KMT2D"
"0000208961" "KMT2D"
"0000208962" "KMT2D"
"0000208964" "KMT2D"
"0000226532" "TONSL"
"0000307069" "KMT2D"
"0000307346" "KMT2D"
"0000307364" "KMT2D"
"0000307366" "KMT2D"
"0000308287" "RB1"
"0000308893" "KMT2D"
"0000312646" "KMT2D"
"0000312647" "KMT2D"
"0000312648" "KMT2D"
"0000312683" "KMT2D"
"0000312684" "KMT2D"
"0000312685" "KMT2D"
"0000312686" "KMT2D"
"0000312687" "KMT2D"
"0000312688" "KMT2D"
"0000312689" "KMT2D"
"0000312690" "KMT2D"
"0000312691" "KMT2D"
"0000312692" "KMT2D"
"0000312693" "KMT2D"
"0000312694" "KMT2D"
"0000312695" "KMT2D"
"0000312696" "KMT2D"
"0000312697" "KMT2D"
"0000312698" "KMT2D"
"0000312699" "KMT2D"
"0000312700" "KMT2D"
"0000312701" "KMT2D"
"0000312702" "KMT2D"
"0000312703" "KMT2D"
"0000312704" "KMT2D"
"0000312705" "KMT2D"
"0000312706" "KMT2D"
"0000312707" "KMT2D"
"0000312708" "KMT2D"
"0000312709" "KMT2D"
"0000312710" "KMT2D"
"0000312711" "KMT2D"
"0000312712" "KMT2D"
"0000312713" "KMT2D"
"0000312714" "KMT2D"
"0000312715" "KMT2D"
"0000312716" "KMT2D"
"0000312717" "KMT2D"
"0000312718" "KMT2D"
"0000312719" "KMT2D"
"0000312720" "KMT2D"
"0000316081" "KMT2D"
"0000316143" "KMT2D"
"0000316144" "KMT2D"
"0000316145" "KMT2D"
"0000316146" "KMT2D"
"0000316147" "KMT2D"
"0000316148" "KMT2D"
"0000316149" "KMT2D"
"0000316150" "KMT2D"
"0000316151" "KMT2D"
"0000316152" "KMT2D"
"0000316153" "KMT2D"
"0000316154" "KMT2D"
"0000316155" "KMT2D"
"0000316156" "KMT2D"
"0000316157" "KMT2D"
"0000316158" "KMT2D"
"0000316159" "KMT2D"
"0000316160" "KMT2D"
"0000316161" "KMT2D"
"0000316162" "KMT2D"
"0000316163" "KMT2D"
"0000316164" "KMT2D"
"0000316165" "KMT2D"
"0000320677" "KMT2D"
"0000321077" "KMT2D"
"0000321078" "KMT2D"
"0000321079" "KMT2D"
"0000321080" "KMT2D"
"0000321081" "KMT2D"
"0000321082" "KMT2D"
"0000321083" "KMT2D"
"0000321084" "KMT2D"
"0000321085" "KMT2D"
"0000321086" "KMT2D"
"0000321087" "KMT2D"
"0000321088" "KMT2D"
"0000321089" "KMT2D"
"0000321090" "KMT2D"
"0000321091" "KMT2D"
"0000321092" "KMT2D"
"0000321093" "KMT2D"
"0000321094" "KMT2D"
"0000321095" "KMT2D"
"0000321096" "KMT2D"
"0000321097" "KMT2D"
"0000321098" "KMT2D"
"0000321099" "KMT2D"
"0000333309" "KMT2D"
"0000362831" "KMT2D"
"0000375307" "KMT2D"
"0000375551" "KMT2D"
"0000375552" "KMT2D"
"0000375553" "KMT2D"
"0000400098" "KMT2D"
"0000420986" "KMT2D"
"0000426233" "HNRNPK"
"0000426233" "KDM6A"
"0000426233" "KMT2A"
"0000426233" "KMT2D"
"0000426233" "RAP1A"
"0000426233" "RAP1B"
"0000437137" "KMT2D"
"0000466954" "KMT2D"
## 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 = 1891
"{{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}}"
"0000040033" "0" "90" "12" "49437758" "49437758" "subst" "0" "00669" "KMT2D_000002" "g.49437758C>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49043975C>A" "" "pathogenic" ""
"0000040034" "0" "90" "12" "49436632" "49436632" "subst" "0" "00669" "KMT2D_000001" "g.49436632G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49042849G>A" "" "pathogenic" ""
"0000040035" "0" "90" "12" "49433617" "49433617" "subst" "0" "00669" "KMT2D_000077" "g.49433617C>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49039834C>A" "" "pathogenic" ""
"0000040036" "0" "90" "12" "49427738" "49427738" "subst" "0" "00669" "KMT2D_000034" "g.49427738G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49033955G>A" "" "pathogenic" ""
"0000040037" "0" "90" "12" "49426784" "49426784" "subst" "0" "00669" "KMT2D_000035" "g.49426784G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49033001G>A" "" "pathogenic" ""
"0000040038" "0" "90" "12" "49426619" "49426619" "subst" "0" "00669" "KMT2D_000040" "g.49426619G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49032836G>A" "" "pathogenic" ""
"0000040039" "0" "90" "12" "49425644" "49425644" "subst" "0" "00669" "KMT2D_000020" "g.49425644G>A" "" "{PMID:Micale 2014:24633898}" "" "" "LCL reduced expression of HOXC6, S100A2, S100A4, S100A5, S100A6" "De novo" "-" "" "0" "" "" "g.49031861G>A" "" "pathogenic" ""
"0000040040" "0" "90" "12" "49425533" "49425533" "subst" "0" "00669" "KMT2D_000043" "g.49425533T>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49031750T>A" "" "pathogenic" ""
"0000040041" "0" "90" "12" "49424981" "49424981" "subst" "0" "00669" "KMT2D_000047" "g.49424981G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49031198G>A" "" "pathogenic" ""
"0000040042" "0" "90" "12" "49420727" "49420727" "subst" "0" "00669" "KMT2D_000016" "g.49420727C>A" "" "{PMID:Micale 2014:24633898}" "" "" "LCL reduced RNA expression (NMD)" "Unknown" "?" "" "0" "" "" "g.49026944C>A" "" "pathogenic" ""
"0000040043" "0" "90" "12" "49445963" "49445963" "dup" "0" "00669" "KMT2D_000003" "g.49445963dup" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49052180dup" "" "pathogenic" ""
"0000040044" "0" "90" "12" "49444204" "49444214" "del" "0" "00669" "KMT2D_000056" "g.49444204_49444214del" "" "{PMID:Micale 2014:24633898}" "" "3161_3171delCGTTGAGTCCC" "" "Unknown" "?" "" "0" "" "" "g.49050421_49050431del" "" "pathogenic" ""
"0000040045" "0" "90" "12" "49443645" "49443645" "del" "0" "00669" "KMT2D_000060" "g.49443645del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49049862del" "" "pathogenic" ""
"0000040046" "0" "90" "12" "49442553" "49442553" "del" "0" "00669" "KMT2D_000061" "g.49442553del" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49048770del" "" "pathogenic" ""
"0000040047" "0" "90" "12" "49441848" "49441849" "del" "0" "00669" "KMT2D_000062" "g.49441848_49441849del" "" "{PMID:Micale 2014:24633898}" "" "4135_4136delAT" "" "Unknown" "?" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic" ""
"0000040048" "0" "90" "12" "49440175" "49440175" "del" "0" "00669" "KMT2D_000066" "g.49440175del" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49046392del" "" "pathogenic" ""
"0000040049" "0" "90" "12" "49438585" "49438594" "del" "0" "00669" "KMT2D_000067" "g.49438585_49438594del" "" "{PMID:Micale 2014:24633898}" "" "4896_4905delAGATGCCCTT" "" "Unknown" "?" "" "0" "" "" "g.49044802_49044811del" "" "pathogenic" ""
"0000040050" "0" "90" "12" "49436355" "49436355" "del" "0" "00669" "KMT2D_000068" "g.49436355del" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49042572del" "" "pathogenic" ""
"0000040051" "0" "90" "12" "49436027" "49436027" "del" "0" "00669" "KMT2D_000069" "g.49436027del" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49042244del" "" "pathogenic" ""
"0000040052" "0" "90" "12" "49435735" "49435736" "del" "0" "00669" "KMT2D_000070" "g.49435735_49435736del" "" "{PMID:Micale 2014:24633898}" "" "6149_6150delGA" "" "De novo" "-" "" "0" "" "" "g.49041952_49041953del" "" "pathogenic" ""
"0000040053" "0" "90" "12" "49434970" "49434970" "del" "0" "00669" "KMT2D_000072" "g.49434970del" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49041187del" "" "pathogenic" ""
"0000040054" "0" "90" "12" "49434817" "49434817" "del" "0" "00669" "KMT2D_000074" "g.49434817del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49041034del" "" "pathogenic" ""
"0000040055" "0" "90" "12" "49434763" "49434763" "del" "0" "00669" "KMT2D_000075" "g.49434763del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49040980del" "" "pathogenic" ""
"0000040056" "0" "90" "12" "49434073" "49434073" "dup" "0" "00669" "KMT2D_000076" "g.49434073dup" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49040290dup" "" "pathogenic" ""
"0000040057" "0" "90" "12" "49433251" "49433251" "del" "0" "00669" "KMT2D_000078" "g.49433251del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49039468del" "" "pathogenic" ""
"0000040058" "0" "90" "12" "49432709" "49432710" "ins" "0" "00669" "KMT2D_000079" "g.49432709_49432710insTT" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49038926_49038927insTT" "" "pathogenic" ""
"0000040059" "0" "90" "12" "49431936" "49431936" "del" "0" "00669" "KMT2D_000080" "g.49431936del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49038153del" "" "pathogenic" ""
"0000040060" "0" "90" "12" "49425842" "49425842" "del" "0" "00669" "KMT2D_000042" "g.49425842del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49032059del" "" "pathogenic" ""
"0000040061" "0" "90" "12" "49425523" "49425523" "del" "0" "00669" "KMT2D_000044" "g.49425523del" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49031740del" "" "pathogenic" ""
"0000040062" "0" "90" "12" "49425211" "49425211" "dup" "0" "00669" "KMT2D_000046" "g.49425211dup" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49031428dup" "" "pathogenic" ""
"0000040063" "0" "90" "12" "49424183" "49424183" "dup" "0" "00669" "KMT2D_000048" "g.49424183dup" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49030400dup" "" "pathogenic" ""
"0000040064" "0" "90" "12" "49421637" "49421637" "dup" "0" "00669" "KMT2D_000049" "g.49421637dup" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49027854dup" "" "pathogenic" ""
"0000040065" "0" "90" "12" "49420718" "49420718" "del" "0" "00669" "KMT2D_000050" "g.49420718del" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49026935del" "" "pathogenic" ""
"0000040066" "0" "90" "12" "49416543" "49418967" "delins" "0" "00669" "KMT2D_000014" "g.49416543_49418967delinsTTAGATACAA" "" "{PMID:Micale 2014:24633898}" "" "15785-238_16168del2425insTTGTATCTAA" "alternative description of variant: c.[15785-244_15785-229del;15785-207_16172del]" "Unknown" "?" "" "0" "" "" "g.49022760_49025184delinsTTAGATACAA" "" "pathogenic" ""
"0000040067" "0" "50" "12" "49444877" "49444936" "del" "0" "00669" "KMT2D_000055" "g.49444877_49444936del" "" "{PMID:Micale 2014:24633898}" "" "2532_2591del60" "" "Unknown" "?" "" "0" "" "" "g.49051094_49051153del" "" "VUS" ""
"0000040068" "21" "50" "12" "49426785" "49426787" "dup" "0" "00669" "KMT2D_000036" "g.49426785_49426787dup" "" "{PMID:Micale 2014:24633898}" "" "11714_11716dupAGC" "" "Germline" "?" "" "0" "" "" "g.49033002_49033004dup" "" "VUS" ""
"0000040069" "11" "50" "12" "49426641" "49426658" "del" "0" "00669" "KMT2D_000038" "g.49426641_49426658del" "" "{PMID:Micale 2014:24633898}" "" "11843_11860del18" "" "Germline" "?" "" "0" "" "" "g.49032858_49032875del" "" "VUS" ""
"0000040070" "11" "50" "12" "49426614" "49426634" "dup" "0" "00669" "KMT2D_000039" "g.49426614_49426634dup" "" "{PMID:Micale 2014:24633898}" "" "11854_11874dup21" "" "Germline" "?" "" "0" "" "" "g.49032831_49032851dup" "" "VUS" ""
"0000040071" "21" "50" "12" "49448365" "49448365" "subst" "0" "00672" "KMT2D_000007" "g.49448365A>G" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49054582A>G" "" "VUS" ""
"0000040072" "21" "10" "12" "49448090" "49448090" "subst" "0" "00672" "KMT2D_000006" "g.49448090C>G" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49054307C>G" "" "benign" ""
"0000040073" "0" "50" "12" "49447808" "49447808" "subst" "2.84317E-5" "00672" "KMT2D_000071" "g.49447808G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49054025G>A" "" "VUS" ""
"0000040074" "21" "50" "12" "49443979" "49443979" "subst" "0.00118135" "00672" "KMT2D_000057" "g.49443979G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49050196G>A" "" "VUS" ""
"0000040075" "0" "50" "12" "49443847" "49443847" "subst" "1.21965E-5" "00672" "KMT2D_000058" "g.49443847G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49050064G>A" "" "VUS" ""
"0000040076" "11" "50" "12" "49443799" "49443799" "subst" "0.000967377" "00672" "KMT2D_000059" "g.49443799G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49050016G>A" "" "VUS" ""
"0000040077" "0" "50" "12" "49441813" "49441813" "subst" "0" "00672" "KMT2D_000063" "g.49441813C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49048030C>T" "" "VUS" ""
"0000040078" "21" "50" "12" "49440527" "49440527" "subst" "0" "00672" "KMT2D_000064" "g.49440527A>G" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49046744A>G" "" "VUS" ""
"0000040079" "0" "30" "12" "49440199" "49440199" "subst" "4.07814E-6" "00672" "KMT2D_000065" "g.49440199G>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49046416G>C" "" "likely benign" ""
"0000040080" "0" "30" "12" "49437744" "49437744" "subst" "0" "00672" "KMT2D_000027" "g.49437744C>G" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49043961C>G" "" "likely benign" ""
"0000040081" "21" "70" "12" "49434915" "49434915" "subst" "3.50717E-5" "00672" "KMT2D_000029" "g.49434915C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49041132C>T" "" "likely pathogenic" ""
"0000040082" "21" "70" "12" "49434915" "49434915" "subst" "3.50717E-5" "00672" "KMT2D_000029" "g.49434915C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041132C>T" "" "likely pathogenic" ""
"0000040083" "0" "30" "12" "49434742" "49434742" "subst" "0.000497652" "00672" "KMT2D_000031" "g.49434742G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49040959G>A" "" "likely benign" ""
"0000040084" "0" "70" "12" "49434583" "49434583" "subst" "0" "00672" "KMT2D_000025" "g.49434583G>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49040800G>T" "" "likely pathogenic" ""
"0000040086" "0" "70" "12" "49428201" "49428201" "subst" "0" "00672" "KMT2D_000033" "g.49428201C>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49034418C>A" "" "likely pathogenic" ""
"0000040087" "0" "70" "12" "49427522" "49427522" "subst" "8.98803E-5" "00672" "KMT2D_000023" "g.49427522G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49033739G>A" "" "likely pathogenic" ""
"0000040088" "0" "50" "12" "49426694" "49426694" "subst" "0" "00672" "KMT2D_000037" "g.49426694G>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49032911G>C" "" "VUS" ""
"0000040089" "0" "50" "12" "49426003" "49426003" "subst" "0.000142623" "00672" "KMT2D_000041" "g.49426003C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49032220C>T" "" "VUS" ""
"0000040090" "21" "70" "12" "49425232" "49425232" "subst" "0" "00672" "KMT2D_000045" "g.49425232G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49031449G>A" "" "likely pathogenic" ""
"0000040091" "0" "70" "12" "49420457" "49420457" "subst" "0" "00672" "KMT2D_000051" "g.49420457T>G" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49026674T>G" "" "likely pathogenic" ""
"0000040092" "0" "70" "12" "49420100" "49420100" "subst" "0" "00672" "KMT2D_000052" "g.49420100A>G" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49026317A>G" "" "likely pathogenic" ""
"0000040093" "0" "70" "12" "49416438" "49416438" "subst" "0" "00672" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49022655C>T" "" "likely pathogenic" ""
"0000040094" "0" "70" "12" "49415649" "49415649" "subst" "0" "00672" "KMT2D_000054" "g.49415649A>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49021866A>C" "" "likely pathogenic" ""
"0000040095" "0" "90" "12" "49448536" "49448536" "subst" "0" "00672" "KMT2D_000008" "g.49448536T>G" "" "{PMID:Micale 2014:24633898}" "" "r.177_400del224" "" "De novo" "-" "" "0" "" "" "g.49054753T>G" "" "pathogenic" ""
"0000040096" "0" "90" "12" "49448310" "49448310" "subst" "0" "00672" "KMT2D_000004" "g.49448310C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49054527C>T" "" "pathogenic" ""
"0000040097" "0" "90" "12" "49448202" "49448202" "subst" "0" "00672" "KMT2D_000005" "g.49448202T>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49054419T>C" "" "pathogenic" ""
"0000040098" "0" "90" "12" "49439847" "49439847" "subst" "0" "00672" "KMT2D_000013" "g.49439847C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49046064C>T" "" "pathogenic" ""
"0000040099" "0" "90" "12" "49424058" "49424058" "subst" "0" "00672" "KMT2D_000009" "g.49424058C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49030275C>T" "" "pathogenic" ""
"0000040100" "0" "90" "12" "49422747" "49422748" "ins" "0" "00672" "KMT2D_000010" "g.49422747_49422748insTTCT" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49028964_49028965insTTCT" "" "pathogenic" ""
"0000040101" "0" "90" "12" "49421585" "49421585" "subst" "0" "00672" "KMT2D_000011" "g.49421585C>T" "" "{PMID:Micale 2014:24633898}" "" "" "NOTE: effect on RNA makes no sense since normal but variant 47i splice donor sites is reported to be used; LCL reduced expression of HOXC6, S100A2, S100A4, S100A5, S100A6" "De novo" "-" "" "0" "" "" "g.49027802C>T" "" "pathogenic" ""
"0000040102" "0" "90" "12" "49421108" "49421108" "subst" "0" "00672" "KMT2D_000012" "g.49421108G>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "De novo" "-" "" "0" "" "" "g.49027325G>C" "" "pathogenic" ""
"0000040103" "0" "90" "12" "49431178" "49431178" "subst" "0" "00006" "KMT2D_000015" "g.49431178G>A" "" "{PMID:Micale 2014:24633898}" "" "" "fibroblast reduction RNA expression (NMD), impaired regulation of HOXC6" "De novo" "-" "" "0" "" "" "g.49037395G>A" "" "pathogenic" ""
"0000040104" "0" "90" "12" "49436656" "49436656" "dup" "0" "00006" "KMT2D_000017" "g.49436656dup" "" "{PMID:Micale 2014:24633898}" "" "" "fibroblast reduced RNA expression (NMD), impaired regulation of HOXC6" "Unknown" "?" "" "0" "" "" "g.49042873dup" "" "pathogenic" ""
"0000040105" "0" "90" "12" "49433650" "49433650" "subst" "0" "00006" "KMT2D_000018" "g.49433650G>A" "" "{PMID:Micale 2014:24633898}" "" "" "fibroblast reduced RNA expression (NMD), impaired regulation of HOXC6" "De novo" "-" "" "0" "" "" "g.49039867G>A" "" "pathogenic" ""
"0000040106" "0" "90" "12" "49444383" "49444383" "dup" "0" "00006" "KMT2D_000019" "g.49444383dup" "" "{PMID:Micale 2014:24633898}" "" "" "LCL reduced RNA expression (NMD); LCL reduced expression of HOXC6, S100A2, S100A4, S100A5, S100A6" "De novo" "-" "" "0" "" "" "g.49050600dup" "" "pathogenic" ""
"0000040107" "0" "90" "12" "49427369" "49427369" "subst" "0" "00006" "KMT2D_000021" "g.49427369G>A" "" "{PMID:Micale 2014:24633898}" "" "" "LCL reduced expression of HOXC6, S100A2, S100A4, S100A5, S100A6" "Unknown" "?" "" "0" "" "" "g.49033586G>A" "" "pathogenic" ""
"0000040108" "0" "90" "12" "49427369" "49427369" "subst" "0" "00006" "KMT2D_000021" "g.49427369G>A" "" "{PMID:Micale 2014:24633898}" "" "" "LCL reduced expression of HOXC6, S100A2, S100A4, S100A5, S100A6" "Unknown" "?" "" "0" "" "" "g.49033586G>A" "" "pathogenic" ""
"0000040109" "0" "90" "12" "49420670" "49420670" "subst" "0" "00006" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Micale 2014:24633898}" "" "" "LCL reduced expression of HOXC6, S100A2, S100A4, S100A5, S100A6" "Unknown" "?" "" "0" "" "" "g.49026887G>A" "" "pathogenic" ""
"0000040110" "0" "30" "12" "49420856" "49420856" "subst" "0.00015895" "00672" "KMT2D_000024" "g.49420856C>T" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49027073C>T" "" "likely benign" ""
"0000040111" "0" "30" "12" "49426000" "49426000" "subst" "0" "00672" "KMT2D_000026" "g.49426000G>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49032217G>A" "" "likely benign" ""
"0000040112" "0" "90" "12" "49416063" "49416063" "subst" "0" "00006" "KMT2D_000028" "g.49416063C>A" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49022280C>A" "" "pathogenic" ""
"0000040113" "11" "30" "12" "49426418" "49426418" "subst" "0" "00672" "KMT2D_000030" "g.49426418T>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "Germline" "?" "" "0" "" "" "g.49032635T>C" "" "likely benign" ""
"0000040114" "0" "50" "12" "49430947" "49430947" "subst" "0.00875387" "00672" "KMT2D_000032" "g.49430947T>C" "" "{PMID:Micale 2014:24633898}" "" "" "" "Unknown" "?" "" "0" "" "" "g.49037164T>C" "" "VUS" ""
"0000063356" "1" "10" "12" "49422795" "49422795" "subst" "0.0462491" "01164" "KMT2D_000106" "g.49422795G>A" "" "" "" "" "" "Germline" "" "rs11168828" "0" "" "" "g.49029012G>A" "" "benign" ""
"0000063357" "1" "50" "12" "49427400" "49427400" "subst" "8.14485E-6" "01164" "KMT2D_000084" "g.49427400T>C" "" "" "" "" "MGZ #50493" "Germline" "" "" "0" "" "" "g.49033617T>C" "" "VUS" ""
"0000063358" "1" "10" "12" "49437399" "49437399" "subst" "0.0259888" "01164" "KMT2D_000092" "g.49437399T>G" "" "" "" "" "" "Germline" "" "rs78764337" "0" "" "" "g.49043616T>G" "" "benign" ""
"0000063359" "1" "10" "12" "49434074" "49434074" "subst" "0.410734" "01164" "KMT2D_000089" "g.49434074C>A" "up to 0.36" "" "" "" "MAF 0,001" "Germline" "" "rs10747559" "0" "" "" "g.49040291C>A" "" "benign" ""
"0000063360" "1" "10" "12" "49426460" "49426460" "subst" "0.0263664" "01164" "KMT2D_000081" "g.49426460A>G" "up to 0.06" "" "" "" "" "Germline" "" "rs80132640" "0" "" "" "g.49032677A>G" "" "benign" ""
"0000063361" "1" "10" "12" "49418435" "49418435" "subst" "0.0269803" "01164" "KMT2D_000112" "g.49418435A>C" "up to 0.06" "" "" "" "" "Germline" "" "rs55776396" "0" "" "" "g.49024652A>C" "" "benign" ""
"0000063362" "1" "10" "12" "49442566" "49442567" "del" "0" "01164" "KMT2D_000096" "g.49442566_49442567del" "" "" "" "" "" "Germline" "" "rs55776244" "0" "" "" "g.49048783_49048784del" "" "benign" ""
"0000063363" "1" "10" "12" "49425978" "49425978" "subst" "0.321124" "01164" "KMT2D_000109" "g.49425978T>C" "" "" "" "" "" "Germline" "" "rs3741622" "0" "" "" "g.49032195T>C" "" "benign" ""
"0000063364" "1" "10" "12" "49424616" "49424616" "subst" "0" "01164" "KMT2D_000108" "g.49424616G>A" "" "" "" "" "" "Germline" "" "rs11614738" "0" "" "" "g.49030833G>A" "" "benign" ""
"0000063365" "1" "50" "12" "49421715" "49421715" "subst" "0" "01164" "KMT2D_000111" "g.49421715T>C" "" "" "" "" "MGZ# 71376" "Germline" "" "" "0" "" "" "g.49027932T>C" "" "VUS" ""
"0000063366" "1" "10" "12" "49427652" "49427652" "subst" "0" "01164" "KMT2D_000086" "g.49427652C>T" "up to 0.35" "" "" "" "" "Germline" "" "rs3782357" "0" "" "" "g.49033869C>T" "" "benign" ""
"0000063367" "1" "50" "12" "49447190" "49447190" "subst" "0" "01164" "KMT2D_000104" "g.49447190C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49053407C>T" "" "VUS" ""
"0000063368" "1" "90" "12" "49427388" "49427389" "ins" "0" "01164" "KMT2D_000083" "g.49427388_49427389insT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49033605_49033606insT" "" "pathogenic" ""
"0000063369" "1" "50" "12" "49427495" "49427495" "subst" "0.00138" "01164" "KMT2D_000085" "g.49427495G>C" "" "" "" "" "" "Germline" "" "rs112170602" "0" "" "" "g.49033712G>C" "" "VUS" ""
"0000063370" "1" "90" "12" "49421078" "49421078" "subst" "0" "01164" "KMT2D_000110" "g.49421078G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49027295G>A" "" "pathogenic" ""
"0000063371" "1" "50" "12" "49437117" "49437117" "subst" "0.000877913" "01164" "KMT2D_000091" "g.49437117C>T" "" "" "" "" "" "Germline" "" "rs145103774" "0" "" "" "g.49043334C>T" "" "VUS" ""
"0000063372" "1" "10" "12" "49445028" "49445028" "subst" "0.0423795" "01164" "KMT2D_000098" "g.49445028G>A" "" "" "" "" "" "Germline" "" "rs75226229" "0" "" "" "g.49051245G>A" "" "benign" ""
"0000063373" "1" "10" "12" "49439659" "49439659" "subst" "0.994392" "01164" "KMT2D_000095" "g.49439659C>T" "" "" "" "" "" "Germline" "" "rs833818" "0" "" "" "g.49045876C>T" "" "benign" ""
"0000063374" "1" "90" "12" "49445209" "49445234" "del" "0" "01164" "KMT2D_000099" "g.49445209_49445234del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49051426_49051451del" "" "pathogenic" ""
"0000063375" "1" "50" "12" "49447085" "49447085" "subst" "6.49942E-5" "01164" "KMT2D_000103" "g.49447085T>C" "" "" "" "" "PolyPhen-2 benign score 0.009" "Germline" "" "" "0" "" "" "g.49053302T>C" "" "VUS" ""
"0000063376" "1" "10" "12" "49416048" "49416048" "del" "0" "01164" "KMT2D_000114" "g.49416048del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49022265del" "" "benign" ""
"0000063377" "1" "50" "12" "49416178" "49416178" "subst" "7.31422E-5" "01164" "KMT2D_000113" "g.49416178G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49022395G>A" "" "VUS" ""
"0000063378" "1" "10" "12" "49444545" "49444545" "subst" "0.374775" "01164" "KMT2D_000097" "g.49444545G>A" "" "" "" "" "" "Germline" "" "rs2241726" "0" "" "" "g.49050762G>A" "" "benign" ""
"0000063379" "1" "90" "12" "49426517" "49426517" "subst" "0" "01164" "KMT2D_000082" "g.49426517G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49032734G>A" "" "pathogenic" ""
"0000063380" "1" "10" "12" "49436724" "49436724" "subst" "0" "01164" "KMT2D_000090" "g.49436724A>G" "" "" "" "" "" "Germline" "" "rs12580349" "0" "" "" "g.49042941A>G" "" "benign" ""
"0000063381" "1" "10" "12" "49427919" "49427919" "subst" "0.0461502" "01164" "KMT2D_000087" "g.49427919T>C" "" "" "" "" "" "Germline" "" "rs61942218" "0" "" "" "g.49034136T>C" "" "benign" ""
"0000063382" "1" "50" "12" "49438321" "49438321" "subst" "4.08547E-6" "01164" "KMT2D_000094" "g.49438321G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49044538G>A" "" "VUS" ""
"0000063383" "1" "10" "12" "49448463" "49448463" "subst" "0.0260112" "01164" "KMT2D_000105" "g.49448463C>T" "up to 0.06" "" "" "" "" "Germline" "" "rs55865069" "0" "" "" "g.49054680C>T" "" "benign" ""
"0000063384" "1" "10" "12" "49430947" "49430947" "subst" "0.00875387" "01164" "KMT2D_000032" "g.49430947T>C" "" "" "" "" "" "Germline" "" "rs75937132" "0" "" "" "g.49037164T>C" "" "benign" ""
"0000063385" "1" "90" "12" "49446856" "49446856" "subst" "0" "01164" "KMT2D_000102" "g.49446856C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49053073C>T" "" "pathogenic" ""
"0000063386" "1" "90" "12" "49425644" "49425644" "subst" "0" "01164" "KMT2D_000020" "g.49425644G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49031861G>A" "" "pathogenic" ""
"0000063387" "1" "90" "12" "49432491" "49432500" "delins" "0" "01164" "KMT2D_000088" "g.49432491_49432500delinsCTGGTCCT" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49038708_49038717delinsCTGGTCCT" "" "pathogenic" ""
"0000063388" "1" "50" "12" "49445806" "49445806" "subst" "0" "01164" "KMT2D_000101" "g.49445806A>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49052023A>T" "" "VUS" ""
"0000063389" "1" "50" "12" "49445798" "49445798" "subst" "1.22079E-5" "01164" "KMT2D_000100" "g.49445798C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.49052015C>T" "" "VUS" ""
"0000063390" "1" "10" "12" "49438164" "49438164" "subst" "0.0260188" "01164" "KMT2D_000093" "g.49438164C>T" "up to 0.06" "" "" "" "" "Germline" "" "rs75566539" "0" "" "" "g.49044381C>T" "" "benign" ""
"0000063391" "1" "10" "12" "49424534" "49424534" "subst" "0.10217" "01164" "KMT2D_000107" "g.49424534G>A" "" "" "" "" "" "Germline" "" "rs11168830" "0" "" "" "g.49030751G>A" "" "benign" ""
"0000063392" "1" "10" "12" "49422795" "49422795" "subst" "0.0462491" "01164" "KMT2D_000106" "g.49422795G>A" "" "" "" "" "PolyPhen-2: benign (PSIC: 0.002)" "Germline" "" "" "0" "" "" "g.49029012G>A" "" "benign" ""
"0000076780" "0" "70" "12" "49444978" "49444978" "subst" "0" "01380" "KMT2D_000116" "g.49444978C>A" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "g.8580G>T" "" "De novo" "" "" "0" "" "" "g.49051195C>A" "" "likely pathogenic" ""
"0000076781" "0" "70" "12" "49440077" "49440077" "del" "0" "01380" "KMT2D_000117" "g.49440077del" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "4549_4549delG" "" "De novo" "" "" "0" "" "" "g.49046294del" "" "likely pathogenic" ""
"0000076782" "0" "70" "12" "49435203" "49435204" "delins" "0" "01380" "KMT2D_000115" "g.49435203_49435204delinsT" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "18354_18355delinsA" "" "De novo" "" "" "0" "" "" "g.49041420_49041421delinsT" "" "likely pathogenic" ""
"0000079416" "0" "70" "12" "49420264" "49420264" "subst" "0" "00006" "KMT2D_000119" "g.49420264A>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.49026481A>C" "" "VUS" ""
"0000079670" "21" "70" "12" "49445799" "49445799" "subst" "4.06726E-6" "00006" "KMT2D_000118" "g.49445799G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}, {PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49052016G>A" "" "VUS" ""
"0000086743" "1" "90" "12" "49420554" "49420554" "subst" "0" "01484" "KMT2D_000174" "g.49420554C>T" "" "{PMID:Ng 2010:20711175}" "" "G15195A, W5065X" "" "Germline" "yes" "" "0" "" "" "g.49026771C>T" "" "pathogenic" ""
"0000086744" "1" "90" "12" "49420554" "49420554" "subst" "0" "01484" "KMT2D_000174" "g.49420554C>T" "" "{PMID:Ng 2010:20711175}" "" "G15195A, W5065X" "" "Germline" "yes" "" "0" "" "" "g.49026771C>T" "" "pathogenic" ""
"0000086745" "1" "90" "12" "49435971" "49435971" "subst" "0" "01484" "KMT2D_000397" "g.49435971G>A" "" "{PMID:Ng 2010:20711175}" "" "C6010T, Q2004X" "" "Germline" "yes" "" "0" "" "" "g.49042188G>A" "" "pathogenic" ""
"0000086746" "1" "90" "12" "49425791" "49425791" "subst" "0" "01484" "KMT2D_000245" "g.49425791G>A" "" "{PMID:Ng 2010:20711175}" "" "C12697T, Q4233X" "" "Germline" "yes" "" "0" "" "" "g.49032008G>A" "" "pathogenic" ""
"0000086747" "1" "90" "12" "49432651" "49432651" "subst" "0" "01484" "KMT2D_000351" "g.49432651G>A" "" "{PMID:Ng 2010:20711175}" "" "C8488T, R2830X" "" "Germline" "?" "" "0" "" "" "g.49038868G>A" "" "pathogenic" ""
"0000086748" "1" "90" "12" "49426691" "49426694" "del" "0" "01484" "KMT2D_000281" "g.49426691_49426694del" "" "{PMID:Ng 2010:20711175}" "" "11794_11797delCAAC, Q3932SfsX46" "" "Germline" "yes" "" "0" "" "" "g.49032908_49032911del" "" "pathogenic" ""
"0000086749" "1" "90" "12" "49420131" "49420131" "subst" "0" "01484" "KMT2D_000148" "g.49420131A>C" "" "{PMID:Ng 2010:20711175}" "" "T15618G, Y5206X" "" "Germline" "yes" "" "0" "" "" "g.49026348A>C" "" "pathogenic" ""
"0000086750" "1" "90" "12" "49443786" "49443786" "dup" "0" "01484" "KMT2D_000471" "g.49443786dup" "" "{PMID:Ng 2010:20711175}" "" "3585_3586insA, P1196TfsX11" "" "Germline" "yes" "" "0" "" "" "g.49050003dup" "" "pathogenic" ""
"0000086751" "1" "90" "12" "49435258" "49435258" "subst" "0" "01484" "KMT2D_000395" "g.49435258G>A" "" "{PMID:Ng 2010:20711175}" "" "C6295T, R2099X" "" "Germline" "yes" "" "0" "" "" "g.49041475G>A" "" "pathogenic" ""
"0000086752" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Ng 2010:20711175}" "" "6595delT, Y2199IfsX65" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000086753" "1" "90" "12" "49420423" "49420423" "subst" "0" "01484" "KMT2D_000168" "g.49420423C>A" "" "{PMID:Ng 2010:20711175}" "" "G15326T, C5109F" "" "Germline" "yes" "" "0" "" "" "g.49026640C>A" "" "pathogenic" ""
"0000086754" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Ng 2010:20711175}, {OMIM602113:0001}" "" "G15536A, R5179H" "" "Germline" "yes" "rs267607237" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000086755" "1" "90" "12" "49427339" "49427339" "subst" "0" "01484" "KMT2D_000307" "g.49427339G>A" "" "{PMID:Ng 2010:20711175}" "" "C11149T, Q3717X" "" "Germline" "yes" "" "0" "" "" "g.49033556G>A" "" "pathogenic" ""
"0000086756" "1" "90" "12" "49420304" "49420305" "del" "0" "01484" "KMT2D_000160" "g.49420304_49420305del" "" "{PMID:Ng 2010:20711175}" "" "15444_15445delTT, F5149CfsX9" "" "Germline" "?" "" "0" "" "" "g.49026521_49026522del" "" "pathogenic" ""
"0000086757" "1" "90" "12" "49420532" "49420532" "subst" "0" "01484" "KMT2D_000172" "g.49420532G>A" "" "{PMID:Ng 2010:20711175}" "" "C15217T, Q5073X" "" "Germline" "?" "" "0" "" "" "g.49026749G>A" "" "pathogenic" ""
"0000086758" "1" "90" "12" "49431178" "49431178" "subst" "0" "01484" "KMT2D_000015" "g.49431178G>A" "" "{PMID:Ng 2010:20711175}" "" "C9961T, R3321X" "" "Germline" "?" "" "0" "" "" "g.49037395G>A" "" "pathogenic" ""
"0000086759" "1" "90" "12" "49421039" "49421039" "subst" "0" "01484" "KMT2D_000201" "g.49421039G>A" "" "{PMID:Ng 2010:20711175}" "" "C14710T, R4904X" "" "Germline" "?" "" "0" "" "" "g.49027256G>A" "" "pathogenic" ""
"0000086760" "1" "90" "12" "49436091" "49436107" "dup" "0" "01484" "KMT2D_000401" "g.49436091_49436107dup" "" "{PMID:Ng 2010:20711175}" "" "5875_5891dup17, E1965GfsX88" "" "Germline" "?" "" "0" "" "" "g.49042308_49042324dup" "" "pathogenic" ""
"0000086761" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Ng 2010:20711175}, {OMIM602113:0001}" "" "G15536A, R5179H" "" "Germline" "?" "rs267607237" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000086762" "1" "90" "12" "49425785" "49425785" "subst" "0" "01484" "KMT2D_000243" "g.49425785G>A" "" "{PMID:Ng 2010:20711175}" "" "C12703T, Q4235X" "" "Germline" "?" "" "0" "" "" "g.49032002G>A" "" "pathogenic" ""
"0000086763" "1" "90" "12" "49426247" "49426247" "subst" "5.81294E-6" "01484" "KMT2D_000260" "g.49426247G>A" "" "{PMID:Ng 2010:20711175}" "" "C12241T, Q4081X" "" "Germline" "?" "" "0" "" "" "g.49032464G>A" "" "pathogenic" ""
"0000086764" "1" "90" "12" "49425098" "49425098" "subst" "0" "01484" "KMT2D_000225" "g.49425098G>A" "" "{PMID:Ng 2010:20711175}" "" "C13390T, Q4464X" "" "Germline" "yes" "" "0" "" "" "g.49031315G>A" "" "pathogenic" ""
"0000086765" "1" "90" "12" "49420108" "49420108" "subst" "0" "01484" "KMT2D_000145" "g.49420108C>T" "" "{PMID:Ng 2010:20711175}" "" "G15641A, R5214H" "" "Germline" "?" "" "0" "" "" "g.49026325C>T" "" "pathogenic" ""
"0000086766" "1" "90" "12" "49424768" "49424768" "subst" "0" "01484" "KMT2D_000220" "g.49424768T>A" "" "{PMID:Ng 2010:20711175}, {PMID:Hannibal 2011:21671394}, {OMIM602113:0002}" "" "A13580T, K4527X" "" "Germline" "yes" "rs267607240" "0" "" "" "g.49030985T>A" "" "pathogenic" ""
"0000086767" "1" "90" "12" "49424768" "49424768" "subst" "0" "01484" "KMT2D_000220" "g.49424768T>A" "" "{PMID:Ng 2010:20711175}, {PMID:Hannibal 2011:21671394}, {OMIM602113:0002}" "" "A13580T, K4527X" "" "Germline" "?" "" "0" "" "" "g.49030985T>A" "" "pathogenic" ""
"0000086768" "1" "90" "12" "49415846" "49415846" "subst" "0" "01484" "KMT2D_000553" "g.49415846G>A" "" "{PMID:Ng 2010:20711175}" "" "C16501T, R5501X" "" "Germline" "?" "" "0" "" "" "g.49022063G>A" "" "pathogenic" ""
"0000086769" "1" "90" "12" "49427852" "49427852" "subst" "0" "01484" "KMT2D_000314" "g.49427852G>A" "" "{PMID:Ng 2010:20711175}" "" "C10738T, Q3580X" "" "Germline" "?" "" "0" "" "" "g.49034069G>A" "" "pathogenic" ""
"0000086770" "1" "90" "12" "49416115" "49416115" "subst" "0" "01484" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Ng 2010:20711175}, {OMIM602113:0003}" "" "C16360T, R5454X" "" "Germline" "?" "rs267607239" "0" "" "" "g.49022332G>A" "" "pathogenic" ""
"0000086771" "1" "90" "12" "49438534" "49438534" "dup" "0" "01484" "KMT2D_000424" "g.49438534dup" "" "{PMID:Ng 2010:20711175}" "" "4956_4957insG, E1654X" "" "Germline" "?" "" "0" "" "" "g.49044751dup" "" "pathogenic" ""
"0000086772" "1" "90" "12" "49427961" "49427992" "del" "0" "01484" "KMT2D_000316" "g.49427961_49427992del" "" "{PMID:Ng 2010:20711175}" "" "10599_10630del32, V3534QfsX11" "" "Germline" "?" "" "0" "" "" "g.49034178_49034209del" "" "pathogenic" ""
"0000086773" "1" "90" "12" "49424741" "49424741" "subst" "0" "01484" "KMT2D_000219" "g.49424741G>A" "" "{PMID:Ng 2010:20711175}" "" "C13606T, R4536X" "" "Germline" "?" "" "0" "" "" "g.49030958G>A" "" "pathogenic" ""
"0000086774" "1" "90" "12" "49418394" "49418394" "subst" "0" "01484" "KMT2D_000131" "g.49418394C>A" "" "{PMID:Ng 2010:20711175}" "" "G16019T, R5340L" "" "Germline" "?" "" "0" "" "" "g.49024611C>A" "" "pathogenic" ""
"0000086775" "1" "90" "12" "49438647" "49438647" "subst" "0" "01484" "KMT2D_000426" "g.49438647G>A" "" "{PMID:Ng 2010:20711175}" "" "C4843T, R1615X" "" "Germline" "?" "" "0" "" "" "g.49044864G>A" "" "pathogenic" ""
"0000086776" "1" "90" "12" "49416084" "49416084" "subst" "0" "01484" "KMT2D_000539" "g.49416084G>A" "" "{PMID:Ng 2010:20711175}" "" "C16391T, T5464M" "" "Germline" "?" "" "0" "" "" "g.49022301G>A" "" "pathogenic" ""
"0000086777" "1" "90" "12" "49416115" "49416115" "subst" "0" "01484" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Ng 2010:20711175}, {OMIM602113:0003}" "" "C16360T, R5454X" "" "Germline" "?" "rs267607239" "0" "" "" "g.49022332G>A" "" "pathogenic" ""
"0000086778" "1" "90" "12" "49446142" "49446142" "del" "0" "01484" "KMT2D_000508" "g.49446142del" "" "{PMID:Ng 2010:20711175}, {PMID:Hannibal 2011:21671394}" "" "1324delC, P442HfsX487" "" "Germline" "?" "" "0" "" "" "g.49052359del" "" "pathogenic" ""
"0000086779" "1" "90" "12" "49416084" "49416084" "subst" "0" "01484" "KMT2D_000539" "g.49416084G>A" "" "{PMID:Ng 2010:20711175}, {OMIM602113:0004}" "" "C16391T, T5464M" "" "Germline" "yes" "rs267607238" "0" "" "" "g.49022301G>A" "" "pathogenic" ""
"0000086780" "1" "90" "12" "49416084" "49416084" "subst" "0" "01484" "KMT2D_000539" "g.49416084G>A" "" "{PMID:Ng 2010:20711175}, {OMIM602113:0004}" "" "C16391T, T5464M" "" "Germline" "?" "rs267607238" "0" "" "" "g.49022301G>A" "" "pathogenic" ""
"0000086781" "1" "90" "12" "49446165" "49446165" "del" "0" "01484" "KMT2D_000509" "g.49446165del" "" "{PMID:Paulussen 2011:21280141}" "" "1301delT, Leu434GlnfsX496" "" "Germline" "yes" "" "0" "" "" "g.49052382del" "" "pathogenic" ""
"0000086782" "1" "90" "12" "49445357" "49445357" "del" "0" "01484" "KMT2D_000494" "g.49445357del" "" "{PMID:Paulussen 2011:21280141}" "" "2110delG, Asp704ThrfsX226" "" "Germline" "yes" "" "0" "" "" "g.49051574del" "" "pathogenic" ""
"0000086783" "1" "90" "12" "49445195" "49445195" "del" "0" "01484" "KMT2D_000492" "g.49445195del" "" "{PMID:Paulussen 2011:21280141}" "" "2272delG, Glu758SerfsX171" "" "Germline" "yes" "" "0" "" "" "g.49051412del" "" "pathogenic" ""
"0000086784" "1" "90" "12" "49444907" "49444908" "del" "0" "01484" "KMT2D_000488" "g.49444907_49444908del" "" "{PMID:Paulussen 2011:21280141}" "" "2558_2559delCT, Arg853ProfsX3" "" "Germline" "yes" "" "0" "" "" "g.49051124_49051125del" "" "pathogenic" ""
"0000086785" "1" "90" "12" "49443484" "49443484" "del" "0" "01484" "KMT2D_000465" "g.49443484del" "" "{PMID:Paulussen 2011:21280141}" "" "3889delC, Arg1297ValfsX33" "" "Germline" "yes" "" "0" "" "" "g.49049701del" "" "pathogenic" ""
"0000086786" "1" "90" "12" "49441764" "49441767" "del" "0" "01484" "KMT2D_000451" "g.49441764_49441767del" "" "{PMID:Paulussen 2011:21280141}" "" "4219_4222delTACT, Tyr1407ValfsX9" "" "Germline" "yes" "" "0" "" "" "g.49047981_49047984del" "" "pathogenic" ""
"0000086787" "1" "90" "12" "49437567" "49437567" "subst" "0" "01484" "KMT2D_000415" "g.49437567T>C" "" "{PMID:Paulussen 2011:21280141}" "" "5320-2A>G," "" "Germline" "?" "" "0" "" "" "g.49043784T>C" "" "pathogenic" ""
"0000086788" "1" "90" "12" "49436919" "49436919" "del" "0" "01484" "KMT2D_000412" "g.49436919del" "" "{PMID:Paulussen 2011:21280141}" "" "5585delA, Lys1862SerfsX14" "" "Germline" "yes" "" "0" "" "" "g.49043136del" "" "pathogenic" ""
"0000086789" "1" "90" "12" "49436069" "49436069" "del" "0" "01484" "KMT2D_000400" "g.49436069del" "" "{PMID:Paulussen 2011:21280141}" "" "5912delG, Ser1971ThrfsX76" "" "Germline" "yes" "" "0" "" "" "g.49042286del" "" "pathogenic" ""
"0000086790" "1" "90" "12" "49433620" "49433620" "subst" "0" "01484" "KMT2D_000365" "g.49433620G>A" "" "{PMID:Paulussen 2011:21280141}" "" "7933C>T, Arg2645X" "" "Germline" "yes" "" "0" "" "" "g.49039837G>A" "" "pathogenic" ""
"0000086791" "1" "90" "12" "49433247" "49433247" "subst" "0" "01484" "KMT2D_000360" "g.49433247G>A" "" "{PMID:Paulussen 2011:21280141}" "" "8200C>T, Arg2734X" "" "Germline" "yes" "" "0" "" "" "g.49039464G>A" "" "pathogenic" ""
"0000086792" "1" "90" "12" "49433060" "49433060" "subst" "0" "01484" "KMT2D_000357" "g.49433060G>A" "" "{PMID:Paulussen 2011:21280141}" "" "8311C>T, Arg2771X" "" "Germline" "yes" "" "0" "" "" "g.49039277G>A" "" "pathogenic" ""
"0000086793" "1" "90" "12" "49432493" "49432498" "delins" "0" "01484" "KMT2D_000348" "g.49432493_49432498delinsCCTGGTCCAGAGACATTGAGGTC" "" "{PMID:Paulussen 2011:21280141}" "" "8641_8646delCGGCACinsGACCTCAATGTCTCTGGACCAGG, Arg2881AspfsX35" "" "Germline" "?" "" "0" "" "" "g.49038710_49038715delinsCCTGGTCCAGAGACATTGAGGTC" "" "pathogenic" ""
"0000086794" "1" "90" "12" "49431916" "49431916" "dup" "0" "01484" "KMT2D_000333" "g.49431916dup" "" "{PMID:Paulussen 2011:21280141}" "" "9223dupT, Ser3075PhefsX3" "" "Germline" "yes" "" "0" "" "" "g.49038133dup" "" "pathogenic" ""
"0000086795" "1" "90" "12" "49431810" "49431810" "del" "0" "01484" "KMT2D_000332" "g.49431810del" "" "{PMID:Paulussen 2011:21280141}" "" "9329delG, Arg3110ProfsX9" "" "Germline" "?" "" "0" "" "" "g.49038027del" "" "pathogenic" ""
"0000086796" "1" "90" "12" "49431370" "49431370" "dup" "0" "01484" "KMT2D_000328" "g.49431370dup" "" "{PMID:Paulussen 2011:21280141}" "" "9770dupA, Lys3250GlufsX43" "" "Germline" "yes" "" "0" "" "" "g.49037587dup" "" "pathogenic" ""
"0000086797" "1" "90" "12" "49431016" "49431028" "del" "0" "01484" "KMT2D_000320" "g.49431016_49431028del" "" "{PMID:Paulussen 2011:21280141}" "" "10114_10126delAGCTCACAGCCAG, Ser3372CysfsX16" "" "Germline" "?" "" "0" "" "" "g.49037233_49037245del" "" "pathogenic" ""
"0000086798" "1" "90" "12" "49426993" "49426993" "del" "0" "01484" "KMT2D_000299" "g.49426993del" "" "{PMID:Paulussen 2011:21280141}" "" "11497delC, Arg3833GlyfsX48" "" "Germline" "yes" "" "0" "" "" "g.49033210del" "" "pathogenic" ""
"0000086799" "1" "90" "12" "49426781" "49426781" "subst" "0" "01484" "KMT2D_000290" "g.49426781G>A" "" "{PMID:Paulussen 2011:21280141}" "" "11707C>T, Gln3903X" "" "Germline" "yes" "" "0" "" "" "g.49032998G>A" "" "pathogenic" ""
"0000086800" "1" "90" "12" "49426766" "49426766" "subst" "0" "01484" "KMT2D_000289" "g.49426766G>A" "" "{PMID:Paulussen 2011:21280141}" "" "11722C>T, Glu3908X" "" "Germline" "yes" "" "0" "" "" "g.49032983G>A" "" "pathogenic" ""
"0000086801" "1" "90" "12" "49426544" "49426544" "subst" "0" "01484" "KMT2D_000271" "g.49426544G>A" "" "{PMID:Paulussen 2011:21280141}" "" "11944C>T, Arg3982X" "" "Germline" "yes" "" "0" "" "" "g.49032761G>A" "" "pathogenic" ""
"0000086802" "1" "90" "12" "49426323" "49426324" "del" "0" "01484" "KMT2D_000265" "g.49426323_49426324del" "" "{PMID:Paulussen 2011:21280141}" "" "12164_12165delCT, Pro4055ArgfsX6" "" "Germline" "yes" "" "0" "" "" "g.49032540_49032541del" "" "pathogenic" ""
"0000086803" "1" "90" "12" "49425519" "49425519" "dup" "0" "01484" "KMT2D_000236" "g.49425519dup" "" "{PMID:Paulussen 2011:21280141}" "" "12969dupA, Pro4324ThrfsX10" "" "Germline" "yes" "" "0" "" "" "g.49031736dup" "" "pathogenic" ""
"0000086804" "1" "90" "12" "49425038" "49425038" "subst" "0" "01484" "KMT2D_000223" "g.49425038G>A" "" "{PMID:Paulussen 2011:21280141}" "" "13450C>T, Arg4484X" "" "Germline" "?" "" "0" "" "" "g.49031255G>A" "" "pathogenic" ""
"0000086805" "1" "90" "12" "49424058" "49424058" "subst" "0" "01484" "KMT2D_000009" "g.49424058C>T" "" "{PMID:Paulussen 2011:21280141}" "" "13999+5G>A," "" "Germline" "yes" "" "0" "" "" "g.49030275C>T" "" "pathogenic" ""
"0000086806" "1" "90" "12" "49421714" "49421714" "subst" "0" "01484" "KMT2D_000204" "g.49421714C>G" "" "{PMID:Paulussen 2011:21280141}" "" "14516-1G>C," "" "Germline" "?" "" "0" "" "" "g.49027931C>G" "" "pathogenic" ""
"0000086807" "1" "90" "12" "49421107" "49421107" "subst" "0" "01484" "KMT2D_000203" "g.49421107T>C" "" "{PMID:Paulussen 2011:21280141}" "" "14644-2A>G," "" "Germline" "yes" "" "0" "" "" "g.49027324T>C" "" "pathogenic" ""
"0000086808" "1" "90" "12" "49420901" "49420904" "dup" "0" "01484" "KMT2D_000196" "g.49420901_49420904dup" "" "{PMID:Paulussen 2011:21280141}" "" "14845_14848dupCCTC, Leu4950ProfsX9" "" "Germline" "yes" "" "0" "" "" "g.49027118_49027121dup" "" "pathogenic" ""
"0000086809" "1" "90" "12" "49420871" "49420871" "subst" "0" "01484" "KMT2D_000193" "g.49420871G>A" "" "{PMID:Paulussen 2011:21280141}" "" "14878C>T, Arg4960X" "" "Germline" "yes" "" "0" "" "" "g.49027088G>A" "" "pathogenic" ""
"0000086810" "1" "90" "12" "49420670" "49420670" "subst" "0" "01484" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Paulussen 2011:21280141}" "" "15079C>T, Arg5027X" "" "Germline" "yes" "" "0" "" "" "g.49026887G>A" "" "pathogenic" ""
"0000086811" "1" "90" "12" "49420120" "49420120" "subst" "0" "01484" "KMT2D_000147" "g.49420120T>C" "" "{PMID:Paulussen 2011:21280141}" "" "15629A>G, Tyr5210Cys" "" "Germline" "yes" "" "0" "" "" "g.49026337T>C" "" "pathogenic" ""
"0000086812" "1" "90" "12" "49418395" "49418395" "subst" "0" "01484" "KMT2D_000133" "g.49418395G>A" "" "{PMID:Paulussen 2011:21280141}" "" "16018C>T, Arg5340X" "" "Germline" "yes" "" "0" "" "" "g.49024612G>A" "" "pathogenic" ""
"0000086813" "1" "90" "12" "49416428" "49416428" "subst" "0" "01484" "KMT2D_000122" "g.49416428C>T" "" "{PMID:Paulussen 2011:21280141}" "" "16283G>A, Gly5428Asp" "" "Germline" "yes" "" "0" "" "" "g.49022645C>T" "" "pathogenic" ""
"0000086814" "1" "90" "12" "49416115" "49416115" "subst" "0" "01484" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Paulussen 2011:21280141}" "" "16360C>T, Arg5454X" "" "Germline" "?" "" "0" "" "" "g.49022332G>A" "" "pathogenic" ""
"0000086815" "1" "90" "12" "49443797" "49443797" "subst" "0" "01484" "KMT2D_000472" "g.49443797C>T" "" "{PMID:Li 2011:21607748}" "" "3574G>A, V1192M" "" "Germline" "yes" "" "0" "" "" "g.49050014C>T" "" "pathogenic" ""
"0000086816" "1" "90" "12" "49431679" "49431679" "del" "0" "01484" "KMT2D_000331" "g.49431679del" "" "{PMID:Li 2011:21607748}" "" "9460delC, L3154X" "" "Germline" "yes" "" "0" "" "" "g.49037896del" "" "pathogenic" ""
"0000086817" "1" "90" "12" "49415854" "49415854" "subst" "0" "01484" "KMT2D_000555" "g.49415854G>A" "" "{PMID:Li 2011:21607748}" "" "16493C>T, S5498F" "" "Germline" "yes" "" "0" "" "" "g.49022071G>A" "" "pathogenic" ""
"0000086818" "1" "90" "12" "49445955" "49445956" "del" "0" "01484" "KMT2D_000502" "g.49445955_49445956del" "" "{PMID:Li 2011:21607748}" "" "1512_1513delTC, P506TfsX2" "" "Germline" "yes" "" "0" "" "" "g.49052172_49052173del" "" "pathogenic" ""
"0000086819" "1" "90" "12" "49420288" "49420288" "subst" "0" "01484" "KMT2D_000158" "g.49420288C>T" "" "{PMID:Li 2011:21607748}" "" "15461G>A, R5154Q" "" "Germline" "yes" "" "0" "" "" "g.49026505C>T" "" "pathogenic" ""
"0000086820" "1" "90" "12" "49424817" "49424817" "subst" "0" "01484" "KMT2D_000221" "g.49424817C>A" "" "{PMID:Li 2011:21607748}" "" "13531-1G>T," "" "Germline" "yes" "" "0" "" "" "g.49031034C>A" "" "pathogenic" ""
"0000086821" "1" "90" "12" "49446989" "49446989" "subst" "0" "01484" "KMT2D_000516" "g.49446989C>A" "" "{PMID:Li 2011:21607748}" "" "954+1G>T," "" "Germline" "yes" "" "0" "" "" "g.49053206C>A" "" "pathogenic" ""
"0000086822" "1" "90" "12" "49432708" "49432708" "subst" "0" "01484" "KMT2D_000353" "g.49432708G>A" "" "{PMID:Li 2011:21607748}" "" "8431C>T, Q2811X" "" "Germline" "yes" "" "0" "" "" "g.49038925G>A" "" "pathogenic" ""
"0000086823" "1" "90" "12" "49440452" "49440452" "subst" "0" "01484" "KMT2D_000442" "g.49440452T>C" "" "{PMID:Li 2011:21607748}" "" "4358A>G, H1453R" "" "Germline" "yes" "" "0" "" "" "g.49046669T>C" "" "pathogenic" ""
"0000086824" "1" "90" "12" "49434264" "49434264" "dup" "0" "01484" "KMT2D_000373" "g.49434264dup" "" "{PMID:Li 2011:21607748}" "" "7289dupT, S2431VfsX3" "" "Germline" "yes" "" "0" "" "" "g.49040481dup" "" "pathogenic" ""
"0000086825" "1" "90" "12" "49437703" "49437703" "dup" "0" "01484" "KMT2D_000417" "g.49437703dup" "" "{PMID:Li 2011:21607748}" "" "5268dupG, R1757AfsX31" "" "Germline" "yes" "" "0" "" "" "g.49043920dup" "" "pathogenic" ""
"0000086826" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Li 2011:21607748}" "" "6595delT, Y2199IfsX65" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000086827" "1" "90" "12" "49445983" "49445986" "del" "0" "01484" "KMT2D_000503" "g.49445983_49445986del" "" "{PMID:Li 2011:21607748}" "" "1483_1486delTCTC, S495RfsX434" "" "Germline" "?" "" "0" "" "" "g.49052200_49052203del" "" "pathogenic" ""
"0000086828" "1" "90" "12" "49420288" "49420288" "subst" "0" "01484" "KMT2D_000158" "g.49420288C>T" "" "{PMID:Li 2011:21607748}" "" "15461G>A, R5154Q" "" "Germline" "?" "" "0" "" "" "g.49026505C>T" "" "pathogenic" ""
"0000086829" "1" "90" "12" "49442950" "49442950" "subst" "0" "01484" "KMT2D_000462" "g.49442950C>A" "" "{PMID:Li 2011:21607748}" "" "3958G>T, G1320X" "" "Germline" "?" "" "0" "" "" "g.49049167C>A" "" "pathogenic" ""
"0000086830" "1" "90" "12" "49432396" "49432396" "subst" "4.08033E-6" "01484" "KMT2D_000342" "g.49432396G>A" "" "{PMID:Li 2011:21607748}" "" "8743C>T, R2915X" "" "Germline" "?" "" "0" "" "" "g.49038613G>A" "" "pathogenic" ""
"0000086831" "1" "90" "12" "49438018" "49438018" "subst" "4.0661E-6" "01484" "KMT2D_000419" "g.49438018G>A" "" "{PMID:Li 2011:21607748}" "" "5153C>T, A1718V" "" "Germline" "?" "" "0" "" "" "g.49044235G>A" "" "pathogenic" ""
"0000086832" "1" "90" "12" "49445526" "49445526" "subst" "0.000486959" "01484" "KMT2D_000496" "g.49445526G>T" "" "{PMID:Li 2011:21607748}" "" "1940C>A, P647Q" "" "Germline" "?" "" "0" "" "" "g.49051743G>T" "" "pathogenic" ""
"0000086833" "1" "90" "12" "49445838" "49445838" "subst" "8.14292E-6" "01484" "KMT2D_000500" "g.49445838G>A" "" "{PMID:Li 2011:21607748}" "" "1628C>T, S543L" "" "Germline" "no" "" "0" "" "" "g.49052055G>A" "" "pathogenic" ""
"0000086834" "1" "90" "12" "49447765" "49447765" "subst" "0" "01484" "KMT2D_000525" "g.49447765A>C" "" "{PMID:Micale 2011:21658225}" "" "669T>G, Tyr223X" "" "Germline" "?" "" "0" "" "" "g.49053982A>C" "" "pathogenic" ""
"0000086835" "1" "90" "12" "49445545" "49445545" "subst" "0" "01484" "KMT2D_000497" "g.49445545C>A" "" "{PMID:Micale 2011:21658225}" "" "1921G>T, Glu641X" "" "Germline" "?" "" "0" "" "" "g.49051762C>A" "" "pathogenic" ""
"0000086836" "1" "90" "12" "49440207" "49440207" "subst" "0" "01484" "KMT2D_000435" "g.49440207C>T" "" "{PMID:Micale 2011:21658225}" "" "4419G>A, Trp1473X" "" "Germline" "?" "" "0" "" "" "g.49046424C>T" "" "pathogenic" ""
"0000086837" "1" "90" "12" "49438595" "49438595" "del" "0" "01484" "KMT2D_000425" "g.49438595del" "" "{PMID:Micale 2011:21658225}" "" "4895delC, Ser1632X" "" "Germline" "?" "" "0" "" "" "g.49044812del" "" "pathogenic" ""
"0000086838" "1" "90" "12" "49435258" "49435258" "subst" "0" "01484" "KMT2D_000395" "g.49435258G>A" "" "{PMID:Micale 2011:21658225}" "" "6295C>T, Arg2099X" "" "Germline" "?" "" "0" "" "" "g.49041475G>A" "" "pathogenic" ""
"0000086839" "1" "90" "12" "49434307" "49434307" "subst" "0" "01484" "KMT2D_000375" "g.49434307G>A" "" "{PMID:Micale 2011:21658225}" "" "7246C>T, Gln2416X" "" "Germline" "?" "" "0" "" "" "g.49040524G>A" "" "pathogenic" ""
"0000086840" "1" "90" "12" "49433650" "49433650" "subst" "0" "01484" "KMT2D_000018" "g.49433650G>A" "" "{PMID:Micale 2011:21658225}" "" "7903C>T, Arg2635X" "" "Germline" "?" "" "0" "" "" "g.49039867G>A" "" "pathogenic" ""
"0000086841" "1" "90" "12" "49431004" "49431004" "subst" "0" "01484" "KMT2D_000319" "g.49431004G>A" "" "{PMID:Micale 2011:21658225}" "" "10135C>T, Gln3379X" "" "Germline" "?" "" "0" "" "" "g.49037221G>A" "" "pathogenic" ""
"0000086842" "1" "90" "12" "49427647" "49427647" "subst" "0" "01484" "KMT2D_000311" "g.49427647G>C" "" "{PMID:Micale 2011:21658225}" "" "10841C>G, Ser3614X" "" "Germline" "yes" "" "0" "" "" "g.49033864G>C" "" "pathogenic" ""
"0000086845" "1" "90" "12" "49427219" "49427219" "subst" "0" "01484" "KMT2D_000304" "g.49427219G>A" "" "{PMID:Micale 2011:21658225}" "" "11269C>T, Gln3757X" "" "Germline" "?" "" "0" "" "" "g.49033436G>A" "" "pathogenic" ""
"0000086846" "1" "90" "12" "49427054" "49427054" "subst" "0" "01484" "KMT2D_000302" "g.49427054G>A" "" "{PMID:Micale 2011:21658225}" "" "11434C>T, Gln3812X" "" "Germline" "?" "" "0" "" "" "g.49033271G>A" "" "pathogenic" ""
"0000086847" "1" "90" "12" "49426412" "49426412" "subst" "0" "01484" "KMT2D_000268" "g.49426412G>A" "" "{PMID:Micale 2011:21658225}" "" "12076C>T, Gln4026X" "" "Germline" "?" "" "0" "" "" "g.49032629G>A" "" "pathogenic" ""
"0000086848" "1" "90" "12" "49426214" "49426214" "subst" "0" "01484" "KMT2D_000259" "g.49426214G>A" "" "{PMID:Micale 2011:21658225}" "" "12274C>T, Gln4092X" "" "Germline" "?" "" "0" "" "" "g.49032431G>A" "" "pathogenic" ""
"0000086849" "1" "90" "12" "49424681" "49424681" "subst" "0" "01484" "KMT2D_000218" "g.49424681T>A" "" "{PMID:Micale 2011:21658225}" "" "13666A>T, Lys4556X" "" "Germline" "?" "" "0" "" "" "g.49030898T>A" "" "pathogenic" ""
"0000086851" "1" "90" "12" "49420670" "49420670" "subst" "0" "01484" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Micale 2011:21658225}" "" "15079C>T, Arg5027X" "" "Germline" "?" "" "0" "" "" "g.49026887G>A" "" "pathogenic" ""
"0000086852" "1" "90" "12" "49448128" "49448128" "del" "0" "01484" "KMT2D_000531" "g.49448128del" "" "{PMID:Micale 2011:21658225}" "" "472delT, Cys158ValfsX50" "" "Germline" "?" "" "0" "" "" "g.49054345del" "" "pathogenic" ""
"0000086853" "1" "90" "12" "49447393" "49447393" "del" "0" "01484" "KMT2D_000522" "g.49447393del" "" "{PMID:Micale 2011:21658225}" "" "705delA, Pro235ProfsX26" "" "Germline" "?" "" "0" "" "" "g.49053610del" "" "pathogenic" ""
"0000086854" "1" "90" "12" "49446780" "49446781" "del" "0" "01484" "KMT2D_000513" "g.49446780_49446781del" "" "{PMID:Micale 2011:21658225}" "" "1035_1036delCT, Leu345LeufsX18" "" "Germline" "?" "" "0" "" "" "g.49052997_49052998del" "" "pathogenic" ""
"0000086855" "1" "90" "12" "49446120" "49446121" "del" "0" "01484" "KMT2D_000507" "g.49446120_49446121del" "" "{PMID:Micale 2011:21658225}" "" "1345_1346delCT, Leu449ValfsX5" "" "Germline" "?" "" "0" "" "" "g.49052337_49052338del" "" "pathogenic" ""
"0000086857" "1" "90" "12" "49436527" "49436527" "del" "0" "01484" "KMT2D_000407" "g.49436527del" "" "{PMID:Micale 2011:21658225}" "" "5779delC, Glu1927Lysfs120X" "" "Germline" "?" "" "0" "" "" "g.49042744del" "" "pathogenic" ""
"0000086858" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Micale 2011:21658225}" "" "6595delT, Tyr2199IlefsX65" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000086859" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Micale 2011:21658225}" "" "6595delT, Tyr2199IlefsX65" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000086860" "1" "90" "12" "49434912" "49434915" "del" "0" "01484" "KMT2D_000384" "g.49434912_49434915del" "" "{PMID:Micale 2011:21658225}" "" "6638_6641delGCGC, Gly2213AlafsX50" "" "Germline" "yes" "" "0" "" "" "g.49041129_49041132del" "" "pathogenic" ""
"0000086861" "1" "90" "12" "49433099" "49433099" "del" "0" "01484" "KMT2D_000359" "g.49433099del" "" "{PMID:Micale 2011:21658225}" "" "8273delG, Gly2758AlafsX29" "" "Germline" "?" "" "0" "" "" "g.49039316del" "" "pathogenic" ""
"0000086862" "1" "90" "12" "49427985" "49427985" "del" "0" "01484" "KMT2D_000317" "g.49427985del" "" "{PMID:Micale 2011:21658225}" "" "10606delC, Arg3536AlafsX122" "" "Germline" "?" "" "0" "" "" "g.49034202del" "" "pathogenic" ""
"0000086863" "1" "90" "12" "49427410" "49427422" "del" "0" "01484" "KMT2D_000309" "g.49427410_49427422del" "" "{PMID:Micale 2011:21658225}" "" "11066_11078delCTGGATCCCTGGC, Ala3689ValfsX56" "" "Germline" "yes" "" "0" "" "" "g.49033627_49033639del" "" "pathogenic" ""
"0000086864" "1" "90" "12" "49425360" "49425360" "dup" "0" "01484" "KMT2D_000231" "g.49425360dup" "" "{PMID:Micale 2011:21658225}" "" "13129_13130insT, Trp4377LeufsX33" "" "Germline" "?" "" "0" "" "" "g.49031577dup" "" "pathogenic" ""
"0000086865" "1" "90" "12" "49415878" "49415879" "del" "0" "01484" "KMT2D_000544" "g.49415878_49415879del" "" "{PMID:Micale 2011:21658225}" "" "16469_16470delAA, Lys5490ArgfsX21" "" "Germline" "?" "" "0" "" "" "g.49022095_49022096del" "" "pathogenic" ""
"0000086866" "1" "90" "12" "49426662" "49426679" "dup" "0" "01484" "KMT2D_000276" "g.49426662_49426679dup" "" "{PMID:Micale 2011:21658225}" "" "11819_11836dupTTCAACAACAGCAGCAGC, Lys3940_Gln3945dupLysGlnGlnGlnGlnGln" "" "Germline" "no" "" "0" "" "" "g.49032879_49032896dup" "" "pathogenic" ""
"0000086867" "1" "90" "12" "49420592" "49420597" "dup" "0" "01484" "KMT2D_000178" "g.49420592_49420597dup" "" "{PMID:Micale 2011:21658225}" "" "15163_15168dupGACCTG, Asp5055_Leu5056dup" "" "Germline" "?" "" "0" "" "" "g.49026809_49026814dup" "" "pathogenic" ""
"0000086868" "1" "90" "12" "49415865" "49415867" "del" "0" "01484" "KMT2D_000542" "g.49415865_49415867del" "" "{PMID:Micale 2011:21658225}" "" "16489_16491delATC, Ile5497del" "" "Germline" "?" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic" ""
"0000086869" "1" "90" "12" "49443598" "49443598" "subst" "0" "01484" "KMT2D_000466" "g.49443598C>T" "" "{PMID:Micale 2011:21658225}" "" "3773G>A, Arg1258Gln" "" "Germline" "no" "" "0" "" "" "g.49049815C>T" "" "pathogenic" ""
"0000086870" "1" "50" "12" "49440561" "49440561" "subst" "0" "01484" "KMT2D_000450" "g.49440561T>C" "" "{PMID:Micale 2011:21658225}" "" "" "" "Germline" "no" "" "0" "" "" "g.49046778T>C" "" "VUS" ""
"0000086871" "1" "90" "12" "49440061" "49440061" "subst" "0" "01484" "KMT2D_000433" "g.49440061T>C" "" "{PMID:Micale 2011:21658225}" "" "4565A>G, Gln1522Arg" "" "Germline" "no" "" "0" "" "" "g.49046278T>C" "" "pathogenic" ""
"0000086872" "1" "90" "12" "49432618" "49432618" "subst" "6.32735E-6" "01484" "KMT2D_000350" "g.49432618G>T" "" "{PMID:Micale 2011:21658225}" "" "8521C>A, Pro2841Thr" "" "Germline" "?" "" "0" "" "" "g.49038835G>T" "" "pathogenic" ""
"0000086873" "1" "50" "12" "49420665" "49420665" "subst" "0" "01484" "KMT2D_000186" "g.49420665G>C" "" "{PMID:Micale 2011:21658225}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026882G>C" "" "VUS" ""
"0000086874" "1" "90" "12" "49420573" "49420573" "subst" "0" "01484" "KMT2D_000176" "g.49420573T>G" "" "{PMID:Micale 2011:21658225}" "" "15176A>C, His5059Pro" "" "Germline" "?" "" "0" "" "" "g.49026790T>G" "" "pathogenic" ""
"0000086875" "1" "90" "12" "49418394" "49418394" "subst" "0" "01484" "KMT2D_000132" "g.49418394C>T" "" "{PMID:Micale 2011:21658225}" "" "16019G>A, Arg5340Gln" "" "Germline" "?" "" "0" "" "" "g.49024611C>T" "" "pathogenic" ""
"0000086879" "1" "90" "12" "49440398" "49440398" "subst" "0" "01484" "KMT2D_000438" "g.49440398C>T" "" "{PMID:Hannibal 2011:21671394}" "" "4412G>A, C1471Y" "" "Germline" "?" "" "0" "" "" "g.49046615C>T" "" "pathogenic" ""
"0000086880" "1" "90" "12" "49447105" "49447105" "subst" "0" "01484" "KMT2D_000518" "g.49447105C>T" "" "{PMID:Hannibal 2011:21671394}" "" "840-1G>A," "" "Germline" "?" "" "0" "" "" "g.49053322C>T" "" "pathogenic" ""
"0000086881" "1" "90" "12" "49418730" "49418730" "subst" "0" "01484" "KMT2D_000140" "g.49418730C>G" "" "{PMID:Hannibal 2011:21671394}" "" "15785-1G>C," "" "Germline" "yes" "" "0" "" "" "g.49024947C>G" "" "pathogenic" ""
"0000086882" "1" "90" "12" "49436344" "49436346" "delins" "0" "01484" "KMT2D_000403" "g.49436344_49436346delinsGGGGG" "" "{PMID:Hannibal 2011:21671394}" "" "5865_5867delTAGinsCCCCC, R1956PfsX92" "" "Germline" "?" "" "0" "" "" "g.49042561_49042563delinsGGGGG" "" "pathogenic" ""
"0000086883" "1" "90" "12" "49425203" "49425203" "subst" "0" "01484" "KMT2D_000227" "g.49425203G>A" "" "{PMID:Hannibal 2011:21671394}" "" "13285C>T, Q4429X" "" "Germline" "yes" "" "0" "" "" "g.49031420G>A" "" "pathogenic" ""
"0000086884" "1" "90" "12" "49427441" "49427441" "subst" "0" "01484" "KMT2D_000310" "g.49427441G>A" "" "{PMID:Hannibal 2011:21671394}" "" "11047C>T, Q3683X" "" "Germline" "?" "" "0" "" "" "g.49033658G>A" "" "pathogenic" ""
"0000086885" "1" "90" "12" "49434325" "49434325" "subst" "0" "01484" "KMT2D_000376" "g.49434325G>A" "" "{PMID:Hannibal 2011:21671394}" "" "7228C>T, R2410X" "" "Germline" "?" "" "0" "" "" "g.49040542G>A" "" "pathogenic" ""
"0000086886" "1" "90" "12" "49433903" "49433903" "del" "0" "01484" "KMT2D_000368" "g.49433903del" "" "{PMID:Hannibal 2011:21671394}" "" "7650delT, V2551SfsX32" "" "Germline" "?" "" "0" "" "" "g.49040120del" "" "pathogenic" ""
"0000086887" "1" "90" "12" "49447399" "49447399" "del" "0" "01484" "KMT2D_000523" "g.49447399del" "" "{PMID:Hannibal 2011:21671394}" "" "702delG, P235QfsX26" "" "Germline" "?" "" "0" "" "" "g.49053616del" "" "pathogenic" ""
"0000086888" "1" "90" "12" "49416133" "49416133" "subst" "0" "01484" "KMT2D_000543" "g.49416133G>A" "" "{PMID:Hannibal 2011:21671394}" "" "16342C>T, R5448X" "" "Germline" "?" "" "0" "" "" "g.49022350G>A" "" "pathogenic" ""
"0000086889" "1" "90" "12" "49416115" "49416115" "subst" "0" "01484" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Hannibal 2011:21671394}" "" "16360C>T, R5454X" "" "Germline" "?" "" "0" "" "" "g.49022332G>A" "" "pathogenic" ""
"0000086890" "1" "90" "12" "49436379" "49436379" "subst" "0" "01484" "KMT2D_000405" "g.49436379G>T" "" "{PMID:Hannibal 2011:21671394}" "" "5832C>A, Y1944X" "" "Germline" "?" "" "0" "" "" "g.49042596G>T" "" "pathogenic" ""
"0000086891" "1" "90" "12" "49431317" "49431319" "dup" "0" "01484" "KMT2D_000325" "g.49431317_49431319dup" "" "{PMID:Hannibal 2011:21671394}" "" "9831_9833dupGCA, Q3282dup" "" "Germline" "?" "" "0" "" "" "g.49037534_49037536dup" "" "pathogenic" ""
"0000086892" "1" "90" "12" "49420670" "49420677" "dup" "0" "01484" "KMT2D_000187" "g.49420670_49420677dup" "" "{PMID:Hannibal 2011:21671394}" "" "15073_15080dup8, D5028YfsX26" "" "Germline" "?" "" "0" "" "" "g.49026887_49026894dup" "" "pathogenic" ""
"0000086893" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Hannibal 2011:21671394}" "" "15142C>T, R5048C" "" "Germline" "?" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000086894" "1" "90" "12" "49420108" "49420108" "subst" "0" "01484" "KMT2D_000145" "g.49420108C>T" "" "{PMID:Hannibal 2011:21671394}" "" "15641G>A, R5214H" "" "Germline" "?" "" "0" "" "" "g.49026325C>T" "" "pathogenic" ""
"0000086895" "1" "90" "12" "49422843" "49422843" "subst" "0" "01484" "KMT2D_000207" "g.49422843C>T" "" "{PMID:Hannibal 2011:21671394}" "" "14251+1G>A," "" "Germline" "yes" "" "0" "" "" "g.49029060C>T" "" "pathogenic" ""
"0000086896" "1" "90" "12" "49421039" "49421039" "subst" "0" "01484" "KMT2D_000201" "g.49421039G>A" "" "{PMID:Hannibal 2011:21671394}" "" "14710C>T, R4904X" "" "Germline" "yes" "" "0" "" "" "g.49027256G>A" "" "pathogenic" ""
"0000086897" "1" "90" "12" "49424171" "49424171" "del" "0" "01484" "KMT2D_000216" "g.49424171del" "" "{PMID:Hannibal 2011:21671394}" "" "13895delC, P4632HfsX8" "" "Germline" "?" "" "0" "" "" "g.49030388del" "" "pathogenic" ""
"0000086898" "1" "90" "12" "49416063" "49416063" "subst" "0" "01484" "KMT2D_000538" "g.49416063C>G" "" "{PMID:Hannibal 2011:21671394}" "" "16412G>C, R5471T" "" "Germline" "?" "" "0" "" "" "g.49022280C>G" "" "pathogenic" ""
"0000086899" "1" "90" "12" "49435222" "49435222" "del" "0" "01484" "KMT2D_000392" "g.49435222del" "" "{PMID:Hannibal 2011:21671394}" "" "6334delG, A2112HfsX32" "" "Germline" "yes" "" "0" "" "" "g.49041439del" "" "pathogenic" ""
"0000086900" "1" "90" "12" "49426667" "49426667" "subst" "0" "01484" "KMT2D_000278" "g.49426667G>A" "" "{PMID:Hannibal 2011:21671394}" "" "11821C>T, Q3941X" "" "Germline" "yes" "" "0" "" "" "g.49032884G>A" "" "pathogenic" ""
"0000086901" "1" "90" "12" "49432411" "49432414" "del" "0" "01484" "KMT2D_000344" "g.49432411_49432414del" "" "{PMID:Hannibal 2011:21671394}" "" "8727_8730delAAGT, S2910RfsX32" "" "Germline" "?" "" "0" "" "" "g.49038628_49038631del" "" "pathogenic" ""
"0000086902" "1" "90" "12" "49432418" "49432418" "subst" "0" "01484" "KMT2D_000345" "g.49432418G>C" "" "{PMID:Hannibal 2011:21671394}" "" "8721C>G, Y2907X" "" "Germline" "yes" "" "0" "" "" "g.49038635G>C" "" "pathogenic" ""
"0000086903" "1" "90" "12" "49425800" "49425800" "subst" "0" "01484" "KMT2D_000246" "g.49425800G>A" "" "{PMID:Hannibal 2011:21671394}" "" "12688C>T, Q4230X" "" "Germline" "yes" "" "0" "" "" "g.49032017G>A" "" "pathogenic" ""
"0000086904" "1" "90" "12" "49420803" "49420803" "subst" "0" "01484" "KMT2D_000190" "g.49420803C>T" "" "{PMID:Hannibal 2011:21671394}" "" "14946G>A, W4982X" "" "Germline" "yes" "" "0" "" "" "g.49027020C>T" "" "pathogenic" ""
"0000086905" "1" "90" "12" "49415910" "49415910" "del" "0" "01484" "KMT2D_000547" "g.49415910del" "" "{PMID:Hannibal 2011:21671394}" "" "16437delT, N5480TfsX7" "" "Germline" "yes" "" "0" "" "" "g.49022127del" "" "pathogenic" ""
"0000086906" "1" "90" "12" "49426724" "49426724" "subst" "0" "01484" "KMT2D_000284" "g.49426724G>A" "" "{PMID:Hannibal 2011:21671394}" "" "11764C>T, Q3922X" "" "Germline" "?" "" "0" "" "" "g.49032941G>A" "" "pathogenic" ""
"0000086907" "1" "90" "12" "49415865" "49415867" "del" "0" "01484" "KMT2D_000542" "g.49415865_49415867del" "" "{PMID:Hannibal 2011:21671394}" "" "16489_16491delATC, I5497del" "" "Germline" "?" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic" ""
"0000086908" "1" "90" "12" "49420109" "49420109" "subst" "0" "01484" "KMT2D_000146" "g.49420109G>A" "" "{PMID:Hannibal 2011:21671394}" "" "15640C>T, R5214C" "" "Germline" "yes" "" "0" "" "" "g.49026326G>A" "" "pathogenic" ""
"0000086909" "1" "90" "12" "49432651" "49432651" "subst" "0" "01484" "KMT2D_000351" "g.49432651G>A" "" "{PMID:Hannibal 2011:21671394}" "" "8488C>T, R2830X" "" "Germline" "yes" "" "0" "" "" "g.49038868G>A" "" "pathogenic" ""
"0000086910" "1" "90" "12" "49431558" "49431558" "del" "0" "01484" "KMT2D_000329" "g.49431558del" "" "{PMID:Hannibal 2011:21671394}" "" "9581delA, H3194PfsX3" "" "Germline" "?" "" "0" "" "" "g.49037775del" "" "pathogenic" ""
"0000086911" "1" "90" "12" "49415865" "49415867" "del" "0" "01484" "KMT2D_000542" "g.49415865_49415867del" "" "{PMID:Hannibal 2011:21671394}" "" "16489_16491delATC, I5497del" "" "Germline" "yes" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic" ""
"0000086912" "1" "90" "12" "49440522" "49440522" "subst" "0" "01484" "KMT2D_000445" "g.49440522A>G" "" "{PMID:Hannibal 2011:21671394}" "" "4288T>C, C1430R" "" "Germline" "?" "" "0" "" "" "g.49046739A>G" "" "pathogenic" ""
"0000086913" "1" "90" "12" "49428410" "49428410" "del" "0" "01484" "KMT2D_000318" "g.49428410del" "" "{PMID:Hannibal 2011:21671394}" "" "10395delA, P3466LfsX36" "" "Germline" "?" "" "0" "" "" "g.49034627del" "" "pathogenic" ""
"0000086914" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Hannibal 2011:21671394}" "" "15536G>A, R5179H" "" "Germline" "?" "" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000086915" "1" "90" "12" "49420109" "49420109" "subst" "0" "01484" "KMT2D_000146" "g.49420109G>A" "" "{PMID:Hannibal 2011:21671394}" "" "15640C>T, R5214C" "" "Germline" "?" "" "0" "" "" "g.49026326G>A" "" "pathogenic" ""
"0000086916" "1" "90" "12" "49441821" "49441821" "subst" "0.000402665" "01484" "KMT2D_000455" "g.49441821C>A" "" "{PMID:Hannibal 2011:21671394}" "" "4163G>T, R1388L" "" "Germline" "?" "" "0" "" "" "g.49048038C>A" "" "pathogenic" ""
"0000086917" "1" "90" "12" "49425287" "49425287" "subst" "0" "01484" "KMT2D_000229" "g.49425287G>A" "" "{PMID:Hannibal 2011:21671394}" "" "13201C>T, Q4401X" "" "Germline" "?" "" "0" "" "" "g.49031504G>A" "" "pathogenic" ""
"0000086918" "1" "90" "12" "49427339" "49427339" "subst" "0" "01484" "KMT2D_000307" "g.49427339G>A" "" "{PMID:Hannibal 2011:21671394}" "" "11149C>T, Q3717X" "" "Germline" "?" "" "0" "" "" "g.49033556G>A" "" "pathogenic" ""
"0000086919" "1" "90" "12" "49420410" "49420410" "subst" "0" "01484" "KMT2D_000165" "g.49420410G>T" "" "{PMID:Hannibal 2011:21671394}" "" "15339C>A, Y5113X" "" "Germline" "?" "" "0" "" "" "g.49026627G>T" "" "pathogenic" ""
"0000086920" "1" "90" "12" "49415908" "49415911" "del" "0" "01484" "KMT2D_000546" "g.49415908_49415911del" "" "{PMID:Hannibal 2011:21671394}" "" "16438_16441delAACT, N5480VfsX6" "" "Germline" "?" "" "0" "" "" "g.49022125_49022128del" "" "pathogenic" ""
"0000086921" "1" "90" "12" "49432474" "49432474" "subst" "0" "01484" "KMT2D_000347" "g.49432474C>A" "" "{PMID:Hannibal 2011:21671394}" "" "8665G>T, G2889X" "" "Germline" "?" "" "0" "" "" "g.49038691C>A" "" "pathogenic" ""
"0000086922" "1" "90" "12" "49434964" "49434964" "del" "0" "01484" "KMT2D_000389" "g.49434964del" "" "{PMID:Hannibal 2011:21671394}" "" "6594delC, Y2199IfsX65" "" "Germline" "?" "" "0" "" "" "g.49041181del" "" "pathogenic" ""
"0000086923" "1" "90" "12" "49431178" "49431178" "subst" "0" "01484" "KMT2D_000015" "g.49431178G>A" "" "{PMID:Hannibal 2011:21671394}" "" "9961C>T, R3321X" "" "Germline" "?" "" "0" "" "" "g.49037395G>A" "" "pathogenic" ""
"0000086924" "1" "90" "12" "49432278" "49432280" "delins" "0" "01484" "KMT2D_000340" "g.49432278_49432280delinsTG" "" "{PMID:Hannibal 2011:21671394}" "" "8859_8861delGGGinsCA, K2953NfsX51" "" "Germline" "?" "" "0" "" "" "g.49038495_49038497delinsTG" "" "pathogenic" ""
"0000086925" "1" "90" "12" "49432189" "49432189" "del" "0" "01484" "KMT2D_000338" "g.49432189del" "" "{PMID:Hannibal 2011:21671394}" "" "8952delG, K2985SfsX19" "" "Germline" "?" "" "0" "" "" "g.49038406del" "" "pathogenic" ""
"0000086926" "1" "90" "12" "49447401" "49447401" "subst" "0" "01484" "KMT2D_000524" "g.49447401C>A" "" "{PMID:Banka 2012:22126750}" "" "697G>T, E233X" "" "Germline" "?" "" "0" "" "" "g.49053618C>A" "" "pathogenic" ""
"0000086927" "1" "90" "12" "49446019" "49446019" "dup" "0" "01484" "KMT2D_000504" "g.49446019dup" "" "{PMID:Banka 2012:22126750}" "" "1446insT, L483FfsX17" "" "Germline" "?" "" "0" "" "" "g.49052236dup" "" "pathogenic" ""
"0000086928" "1" "90" "12" "49445832" "49445832" "del" "0" "01484" "KMT2D_000499" "g.49445832del" "" "{PMID:Banka 2012:22126750}" "" "1634delT, L545RfsX" "" "Germline" "?" "" "0" "" "" "g.49052049del" "" "pathogenic" ""
"0000086929" "1" "90" "12" "49444017" "49444017" "del" "0" "01484" "KMT2D_000476" "g.49444017del" "" "{PMID:Banka 2012:22126750}" "" "3354delA, L1118LfsX45" "" "Germline" "?" "" "0" "" "" "g.49050234del" "" "pathogenic" ""
"0000086930" "1" "90" "12" "49441813" "49441813" "subst" "0" "01484" "KMT2D_000453" "g.49441813C>A" "" "{PMID:Banka 2012:22126750}" "" "4171G>T, Q1391X" "" "Germline" "?" "" "0" "" "" "g.49048030C>A" "" "pathogenic" ""
"0000086931" "1" "90" "12" "49438216" "49438216" "dup" "0" "01484" "KMT2D_000423" "g.49438216dup" "" "{PMID:Banka 2012:22126750}" "" "5058dupA, R1687TfsX3" "" "Germline" "?" "" "0" "" "" "g.49044433dup" "" "pathogenic" ""
"0000086932" "1" "90" "12" "49438051" "49438052" "del" "0" "01484" "KMT2D_000421" "g.49438051_49438052del" "" "{PMID:Banka 2012:22126750}" "" "5124delAC, T1708TfsX25" "" "Germline" "?" "" "0" "" "" "g.49044268_49044269del" "" "pathogenic" ""
"0000086933" "1" "90" "12" "49437152" "49437152" "dup" "0" "01484" "KMT2D_000413" "g.49437152dup" "" "{PMID:Banka 2012:22126750}" "" "5528insA, T1843NfsX4" "" "Germline" "?" "" "0" "" "" "g.49043369dup" "" "pathogenic" ""
"0000086934" "1" "90" "12" "49436875" "49436878" "del" "0" "01484" "KMT2D_000411" "g.49436875_49436878del" "" "{PMID:Banka 2012:22126750}" "" "5627delACAG, D1876GfsX37" "" "Germline" "?" "" "0" "" "" "g.49043092_49043095del" "" "pathogenic" ""
"0000086935" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Banka 2012:22126750}" "" "6595delT, Y2199IfsX65" "" "Germline" "?" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000086936" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Banka 2012:22126750}" "" "6595delT, Y2199IfsX65" "" "Germline" "?" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000086937" "1" "90" "12" "49434325" "49434325" "subst" "0" "01484" "KMT2D_000376" "g.49434325G>A" "" "{PMID:Banka 2012:22126750}" "" "7228C>T, R2410X" "" "Germline" "?" "" "0" "" "" "g.49040542G>A" "" "pathogenic" ""
"0000086938" "1" "90" "12" "49433731" "49433731" "del" "0" "01484" "KMT2D_000366" "g.49433731del" "" "{PMID:Banka 2012:22126750}" "" "7822delT, S2608PfsX83" "" "Germline" "?" "" "0" "" "" "g.49039948del" "" "pathogenic" ""
"0000086939" "1" "90" "12" "49433388" "49433388" "subst" "0" "01484" "KMT2D_000363" "g.49433388G>A" "" "{PMID:Banka 2012:22126750}" "" "8059C>T, R2687X" "" "Germline" "?" "" "0" "" "" "g.49039605G>A" "" "pathogenic" ""
"0000086940" "1" "90" "12" "49433063" "49433064" "del" "0" "01484" "KMT2D_000358" "g.49433063_49433064del" "" "{PMID:Banka 2012:22126750}" "" "8307_8308delTG, D2769EfsX1" "" "Germline" "?" "" "0" "" "" "g.49039280_49039281del" "" "pathogenic" ""
"0000086941" "1" "90" "12" "49433060" "49433060" "subst" "0" "01484" "KMT2D_000357" "g.49433060G>A" "" "{PMID:Banka 2012:22126750}" "" "8311C>T, R2771X" "" "Germline" "?" "" "0" "" "" "g.49039277G>A" "" "pathogenic" ""
"0000086942" "1" "90" "12" "49431645" "49431645" "del" "0" "01484" "KMT2D_000330" "g.49431645del" "" "{PMID:Banka 2012:22126750}" "" "9494delC, D3165VfsX32" "" "Germline" "?" "" "0" "" "" "g.49037862del" "" "pathogenic" ""
"0000086943" "1" "90" "12" "49431334" "49431334" "subst" "0" "01484" "KMT2D_000327" "g.49431334G>A" "" "{PMID:Banka 2012:22126750}" "" "9805C>T, Q3269X" "" "Germline" "?" "" "0" "" "" "g.49037551G>A" "" "pathogenic" ""
"0000086944" "1" "90" "12" "49431178" "49431178" "subst" "0" "01484" "KMT2D_000015" "g.49431178G>A" "" "{PMID:Banka 2012:22126750}" "" "9961C>T, R3321X" "" "Germline" "?" "" "0" "" "" "g.49037395G>A" "" "pathogenic" ""
"0000086945" "1" "90" "12" "49427388" "49427388" "del" "0" "01484" "KMT2D_000308" "g.49427388del" "" "{PMID:Banka 2012:22126750}" "" "11102delC, P3701LfsX47" "" "Germline" "?" "" "0" "" "" "g.49033605del" "" "pathogenic" ""
"0000086946" "1" "90" "12" "49426978" "49426978" "dup" "0" "01484" "KMT2D_000297" "g.49426978dup" "" "{PMID:Banka 2012:22126750}" "" "11515dupC, Q3839Pfs" "" "Germline" "?" "" "0" "" "" "g.49033195dup" "" "pathogenic" ""
"0000086947" "1" "90" "12" "49426961" "49426961" "subst" "0" "01484" "KMT2D_000295" "g.49426961G>A" "" "{PMID:Banka 2012:22126750}" "" "11527C>T, Q3843X" "" "Germline" "?" "" "0" "" "" "g.49033178G>A" "" "pathogenic" ""
"0000086948" "1" "90" "12" "49426814" "49426814" "subst" "0" "01484" "KMT2D_000292" "g.49426814G>A" "" "{PMID:Banka 2012:22126750}" "" "11674C>T, Q3892X" "" "Germline" "?" "" "0" "" "" "g.49033031G>A" "" "pathogenic" ""
"0000086949" "1" "90" "12" "49426601" "49426601" "subst" "0" "01484" "KMT2D_000274" "g.49426601G>A" "" "{PMID:Banka 2012:22126750}" "" "11887C>T, Q3963X" "" "Germline" "?" "" "0" "" "" "g.49032818G>A" "" "pathogenic" ""
"0000086950" "1" "90" "12" "49426307" "49426310" "del" "0" "01484" "KMT2D_000264" "g.49426307_49426310del" "" "{PMID:Banka 2012:22126750}" "" "12179-12182delCTGA, T4060NfsX4" "" "Germline" "?" "" "0" "" "" "g.49032524_49032527del" "" "pathogenic" ""
"0000086951" "1" "90" "12" "49426247" "49426247" "subst" "5.81294E-6" "01484" "KMT2D_000260" "g.49426247G>A" "" "{PMID:Banka 2012:22126750}" "" "12241C>T, Q4081X" "" "Germline" "?" "" "0" "" "" "g.49032464G>A" "" "pathogenic" ""
"0000086952" "1" "90" "12" "49426048" "49426048" "del" "0" "01484" "KMT2D_000254" "g.49426048del" "" "{PMID:Banka 2012:22126750}" "" "12441delC, S4147X" "" "Germline" "?" "" "0" "" "" "g.49032265del" "" "pathogenic" ""
"0000086953" "1" "90" "12" "49425896" "49425896" "subst" "0" "01484" "KMT2D_000250" "g.49425896G>A" "" "{PMID:Banka 2012:22126750}" "" "12592C>T, R4198X" "" "Germline" "?" "" "0" "" "" "g.49032113G>A" "" "pathogenic" ""
"0000086954" "1" "90" "12" "49425737" "49425738" "del" "0" "01484" "KMT2D_000242" "g.49425737_49425738del" "" "{PMID:Banka 2012:22126750}" "" "12753_12754del, L4253PfsX80" "" "Germline" "?" "" "0" "" "" "g.49031954_49031955del" "" "pathogenic" ""
"0000086955" "1" "90" "12" "49425386" "49425386" "dup" "0" "01484" "KMT2D_000232" "g.49425386dup" "" "{PMID:Banka 2012:22126750}" "" "13102dupA, T4368NfsX3" "" "Germline" "?" "" "0" "" "" "g.49031603dup" "" "pathogenic" ""
"0000086956" "1" "90" "12" "49425098" "49425098" "subst" "0" "01484" "KMT2D_000225" "g.49425098G>A" "" "{PMID:Banka 2012:22126750}" "" "13390C>T, Q4464X" "" "Germline" "?" "" "0" "" "" "g.49031315G>A" "" "pathogenic" ""
"0000086957" "1" "90" "12" "49424171" "49424171" "del" "0" "01484" "KMT2D_000216" "g.49424171del" "" "{PMID:Banka 2012:22126750}" "" "13895delC, P4632HfsX8" "" "Germline" "?" "" "0" "" "" "g.49030388del" "" "pathogenic" ""
"0000086958" "1" "90" "12" "49424156" "49424156" "subst" "0" "01484" "KMT2D_000213" "g.49424156G>A" "" "{PMID:Banka 2012:22126750}" "" "13906C>T, Q4636X" "" "Germline" "?" "" "0" "" "" "g.49030373G>A" "" "pathogenic" ""
"0000086959" "1" "90" "12" "49420988" "49420989" "ins" "0" "01484" "KMT2D_000198" "g.49420988_49420989insT" "" "{PMID:Banka 2012:22126750}" "" "14761insA, L4921IfsX10" "" "Germline" "?" "" "0" "" "" "g.49027205_49027206insT" "" "pathogenic" ""
"0000086960" "1" "90" "12" "49420871" "49420871" "subst" "0" "01484" "KMT2D_000193" "g.49420871G>A" "" "{PMID:Banka 2012:22126750}" "" "14878C>T, R4960X" "" "Germline" "?" "" "0" "" "" "g.49027088G>A" "" "pathogenic" ""
"0000086961" "1" "90" "12" "49420871" "49420871" "subst" "0" "01484" "KMT2D_000193" "g.49420871G>A" "" "{PMID:Banka 2012:22126750}" "" "14878C>T, R4960X" "" "Germline" "?" "" "0" "" "" "g.49027088G>A" "" "pathogenic" ""
"0000086962" "1" "90" "12" "49420688" "49420688" "subst" "0" "01484" "KMT2D_000188" "g.49420688G>A" "" "{PMID:Banka 2012:22126750}" "" "15061C>T, R5021X" "" "Germline" "?" "" "0" "" "" "g.49026905G>A" "" "pathogenic" ""
"0000086963" "1" "90" "12" "49420493" "49420493" "subst" "0" "01484" "KMT2D_000170" "g.49420493G>A" "" "{PMID:Banka 2012:22126750}" "" "15256C>T, R5086X" "" "Germline" "?" "" "0" "" "" "g.49026710G>A" "" "pathogenic" ""
"0000086964" "1" "90" "12" "49420398" "49420398" "subst" "0" "01484" "KMT2D_000163" "g.49420398A>T" "" "{PMID:Banka 2012:22126750}" "" "15351T>A, C5117X" "" "Germline" "?" "" "0" "" "" "g.49026615A>T" "" "pathogenic" ""
"0000086965" "1" "90" "12" "49416611" "49416611" "del" "0" "01484" "KMT2D_000127" "g.49416611del" "" "{PMID:Banka 2012:22126750}" "" "16101delC, T5367TfsX90" "" "Germline" "?" "" "0" "" "" "g.49022828del" "" "pathogenic" ""
"0000086966" "1" "90" "12" "49416555" "49416555" "dup" "0" "01484" "KMT2D_000124" "g.49416555dup" "" "{PMID:Banka 2012:22126750}" "" "16156dupT, S5386FfsX72" "" "Germline" "?" "" "0" "" "" "g.49022772dup" "" "pathogenic" ""
"0000086967" "1" "90" "12" "49416508" "49416508" "dup" "0" "01484" "KMT2D_000123" "g.49416508dup" "" "{PMID:Banka 2012:22126750}" "" "16204dupG, A5401GfsX56" "" "Germline" "?" "" "0" "" "" "g.49022725dup" "" "pathogenic" ""
"0000086968" "1" "90" "12" "49416103" "49416106" "del" "0" "01484" "KMT2D_000540" "g.49416103_49416106del" "" "{PMID:Banka 2012:22126750}" "" "16371-16374delTGAA, N5457NfsX2" "" "Germline" "?" "" "0" "" "" "g.49022320_49022323del" "" "pathogenic" ""
"0000086969" "1" "90" "12" "49436427" "49436429" "delins" "0" "01484" "KMT2D_000406" "g.49436427_49436429delinsT" "" "{PMID:Banka 2012:22126750}" "" "5783-1_5784delinsA," "" "Germline" "?" "" "0" "" "" "g.49042644_49042646delinsT" "" "pathogenic" ""
"0000086970" "1" "90" "12" "49424062" "49424062" "subst" "0" "01484" "KMT2D_000211" "g.49424062C>G" "" "{PMID:Banka 2012:22126750}" "" "13999+1G>C," "" "Germline" "?" "" "0" "" "" "g.49030279C>G" "" "pathogenic" ""
"0000086971" "1" "90" "12" "49419964" "49419964" "subst" "0" "01484" "KMT2D_000141" "g.49419964C>T" "" "{PMID:Banka 2012:22126750}" "" "15784+1G>A," "" "Germline" "?" "" "0" "" "" "g.49026181C>T" "" "pathogenic" ""
"0000086972" "1" "90" "12" "49418583" "49418595" "del" "0" "01484" "KMT2D_000135" "g.49418583_49418595del" "" "{PMID:Banka 2012:22126750}" "" "15919-15921+8delTCAgtaaggaagg," "" "Germline" "?" "" "0" "" "" "g.49024800_49024812del" "" "pathogenic" ""
"0000086973" "1" "90" "12" "49418591" "49418591" "subst" "0" "01484" "KMT2D_000136" "g.49418591A>C" "" "{PMID:Banka 2012:22126750}" "" "15921+2T>G," "" "Germline" "?" "" "0" "" "" "g.49024808A>C" "" "pathogenic" ""
"0000086974" "1" "90" "12" "49416138" "49416138" "subst" "0" "01484" "KMT2D_000549" "g.49416138T>C" "" "{PMID:Banka 2012:22126750}" "" "16339-2A>G," "" "Germline" "?" "" "0" "" "" "g.49022355T>C" "" "pathogenic" ""
"0000086975" "1" "90" "12" "49416062" "49416062" "subst" "0" "01484" "KMT2D_000537" "g.49416062C>G" "" "{PMID:Banka 2012:22126750}" "" "16412+1G>C," "" "Germline" "?" "" "0" "" "" "g.49022279C>G" "" "pathogenic" ""
"0000086976" "1" "90" "12" "49446800" "49446800" "subst" "3.24907E-5" "01484" "KMT2D_000515" "g.49446800G>A" "" "{PMID:Banka 2012:22126750}" "" "1010C>T, S337L" "" "Germline" "?" "" "0" "" "" "g.49053017G>A" "" "pathogenic" ""
"0000086977" "1" "90" "12" "49425430" "49425430" "subst" "3.46473E-5" "01484" "KMT2D_000233" "g.49425430G>A" "" "{PMID:Banka 2012:22126750}" "" "13058C>T, P4353L" "" "Germline" "?" "" "0" "" "" "g.49031647G>A" "" "pathogenic" ""
"0000086978" "1" "90" "12" "49420609" "49420609" "subst" "0" "01484" "KMT2D_000182" "g.49420609G>A" "" "{PMID:Banka 2012:22126750}" "" "15140C>T, A5047V" "" "Germline" "?" "" "0" "" "" "g.49026826G>A" "" "pathogenic" ""
"0000086979" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Banka 2012:22126750}" "" "15142C>T, R5048C" "" "Germline" "yes" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000086980" "1" "90" "12" "49415905" "49415905" "subst" "4.06174E-6" "01484" "KMT2D_000545" "g.49415905C>T" "" "{PMID:Banka 2012:22126750}" "" "16442G>A, C5481Y" "" "Germline" "?" "" "0" "" "" "g.49022122C>T" "" "pathogenic" ""
"0000086981" "1" "90" "12" "49446798" "49446798" "subst" "0" "01484" "KMT2D_000514" "g.49446798C>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "1012G>T, (Glu338*)" "" "Germline" "?" "" "0" "" "" "g.49053015C>A" "" "pathogenic" ""
"0000086982" "1" "90" "12" "49435753" "49435753" "subst" "0" "01484" "KMT2D_000396" "g.49435753G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "6130C>T, (Gln2044*)" "" "Germline" "?" "" "0" "" "" "g.49041970G>A" "" "pathogenic" ""
"0000086983" "1" "90" "12" "49434567" "49434567" "del" "0" "01484" "KMT2D_000378" "g.49434567del" "" "{PMID:Makrythanasis 2013:23320472}" "" "6991del, (Leu2331*)" "" "Germline" "?" "" "0" "" "" "g.49040784del" "" "pathogenic" ""
"0000086984" "1" "90" "12" "49434325" "49434325" "subst" "0" "01484" "KMT2D_000376" "g.49434325G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "7228C>T, (Arg2410*)" "" "Germline" "?" "" "0" "" "" "g.49040542G>A" "" "pathogenic" ""
"0000086985" "1" "90" "12" "49433521" "49433521" "subst" "0" "01484" "KMT2D_000364" "g.49433521C>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "8032G>T, (Glu2678*)" "" "Germline" "?" "" "0" "" "" "g.49039738C>A" "" "pathogenic" ""
"0000086986" "1" "90" "12" "49427198" "49427198" "subst" "0" "01484" "KMT2D_000303" "g.49427198G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "11290C>T, (Gln3764*)" "" "Germline" "?" "" "0" "" "" "g.49033415G>A" "" "pathogenic" ""
"0000086987" "1" "90" "12" "49426745" "49426745" "subst" "0" "01484" "KMT2D_000286" "g.49426745G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "11743C>T, (Gln3915*)" "" "Germline" "yes" "" "0" "" "" "g.49032962G>A" "" "pathogenic" ""
"0000086988" "1" "90" "12" "49425977" "49425977" "subst" "0" "01484" "KMT2D_000251" "g.49425977G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "12511C>T, (Gln4171*)" "" "Germline" "yes" "" "0" "" "" "g.49032194G>A" "" "pathogenic" ""
"0000086989" "1" "90" "12" "49425896" "49425896" "subst" "0" "01484" "KMT2D_000250" "g.49425896G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "12592C>T, (Arg4198*)" "" "Germline" "yes" "" "0" "" "" "g.49032113G>A" "" "pathogenic" ""
"0000086990" "1" "90" "12" "49425680" "49425680" "subst" "0" "01484" "KMT2D_000241" "g.49425680G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "12808C>T, (Gln4270*)" "" "Germline" "?" "" "0" "" "" "g.49031897G>A" "" "pathogenic" ""
"0000086991" "1" "90" "12" "49425287" "49425287" "subst" "0" "01484" "KMT2D_000229" "g.49425287G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "13201C>T, (Gln4401*)" "" "Germline" "?" "" "0" "" "" "g.49031504G>A" "" "pathogenic" ""
"0000086992" "1" "90" "12" "49425038" "49425038" "subst" "0" "01484" "KMT2D_000223" "g.49425038G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "13450C>T, (Arg4484*)" "" "Germline" "?" "" "0" "" "" "g.49031255G>A" "" "pathogenic" ""
"0000086993" "1" "90" "12" "49421039" "49421039" "subst" "0" "01484" "KMT2D_000201" "g.49421039G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "14710C>T, (Arg4904*)" "" "Germline" "?" "" "0" "" "" "g.49027256G>A" "" "pathogenic" ""
"0000086994" "1" "90" "12" "49447849" "49447849" "del" "0" "01484" "KMT2D_000527" "g.49447849del" "" "{PMID:Makrythanasis 2013:23320472}" "" "588del, (Cys197Alafs*11)" "" "Germline" "yes" "" "0" "" "" "g.49054066del" "" "pathogenic" ""
"0000086995" "1" "90" "12" "49447845" "49447845" "del" "0" "01484" "KMT2D_000526" "g.49447845del" "" "{PMID:Makrythanasis 2013:23320472}" "" "589del, (Cys197Alafs*11)" "" "Germline" "?" "" "0" "" "" "g.49054062del" "" "pathogenic" ""
"0000086996" "1" "90" "12" "49447084" "49447085" "ins" "0" "01484" "KMT2D_000517" "g.49447084_49447085insA" "" "{PMID:Makrythanasis 2013:23320472}" "" "859_860insT, (Lys287Ilefs*6)" "" "Germline" "yes" "" "0" "" "" "g.49053301_49053302insA" "" "pathogenic" ""
"0000086997" "1" "90" "12" "49441821" "49441822" "ins" "0" "01484" "KMT2D_000456" "g.49441821_49441822insCG" "" "{PMID:Makrythanasis 2013:23320472}" "" "4162_4163insCG, (Arg1388Profs*30)" "" "Germline" "?" "" "0" "" "" "g.49048038_49048039insCG" "" "pathogenic" ""
"0000086998" "1" "90" "12" "49441821" "49441821" "dup" "0" "01484" "KMT2D_000454" "g.49441821dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "4168dup, (Ala1390Glyfs*40)" "" "Germline" "yes" "" "0" "" "" "g.49048038dup" "" "pathogenic" ""
"0000086999" "1" "90" "12" "49438035" "49438036" "del" "0" "01484" "KMT2D_000420" "g.49438035_49438036del" "" "{PMID:Makrythanasis 2013:23320472}" "" "5135_5136del, (Lys1712Argfs*22)" "" "Germline" "yes" "" "0" "" "" "g.49044252_49044253del" "" "pathogenic" ""
"0000087000" "1" "90" "12" "49436656" "49436656" "dup" "0" "01484" "KMT2D_000017" "g.49436656dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "5652dup, (Lys1885Glnfs*18)" "" "Germline" "?" "" "0" "" "" "g.49042873dup" "" "pathogenic" ""
"0000087001" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Makrythanasis 2013:23320472}" "" "6595del, (Tyr2199Ilefs*65)" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000087002" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Makrythanasis 2013:23320472}" "" "6595del, (Tyr2199Ilefs*65)" "" "Germline" "?" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000087003" "1" "90" "12" "49434824" "49434824" "dup" "0" "01484" "KMT2D_000383" "g.49434824dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "6729dup, (Phe2244Ilefs*11)" "" "Germline" "?" "" "0" "" "" "g.49041041dup" "" "pathogenic" ""
"0000087004" "1" "90" "12" "49434256" "49434256" "del" "0" "01484" "KMT2D_000372" "g.49434256del" "" "{PMID:Makrythanasis 2013:23320472}" "" "7297del, (Glu2433Lysfs*52)" "" "Germline" "?" "" "0" "" "" "g.49040473del" "" "pathogenic" ""
"0000087005" "1" "90" "12" "49434245" "49434246" "ins" "0" "01484" "KMT2D_000371" "g.49434245_49434246insA" "" "{PMID:Makrythanasis 2013:23320472}" "" "7307_7308insT, (Ser2438Ilefs*11)" "" "Germline" "?" "" "0" "" "" "g.49040462_49040463insA" "" "pathogenic" ""
"0000087006" "1" "90" "12" "49434079" "49434079" "del" "0" "01484" "KMT2D_000370" "g.49434079del" "" "{PMID:Makrythanasis 2013:23320472}" "" "7479del, (Phe2494Serfs*49)" "" "Germline" "?" "" "0" "" "" "g.49040296del" "" "pathogenic" ""
"0000087007" "1" "90" "12" "49432403" "49432403" "dup" "0" "01484" "KMT2D_000343" "g.49432403dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "8740dup, (His2914Profs*6)" "" "Germline" "yes" "" "0" "" "" "g.49038620dup" "" "pathogenic" ""
"0000087008" "1" "90" "12" "49427716" "49427716" "dup" "0" "01484" "KMT2D_000313" "g.49427716dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "10772dup, (Met3592Hisfs*83)" "" "Germline" "?" "" "0" "" "" "g.49033933dup" "" "pathogenic" ""
"0000087009" "1" "90" "12" "49426074" "49426074" "dup" "0" "01484" "KMT2D_000255" "g.49426074dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "12414dup, (Val4139Cysfs*29)" "" "Germline" "?" "" "0" "" "" "g.49032291dup" "" "pathogenic" ""
"0000087010" "1" "90" "12" "49420376" "49420376" "dup" "0" "01484" "KMT2D_000162" "g.49420376dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "15374dup, (Phe5126Leufs*12)" "" "Germline" "yes" "" "0" "" "" "g.49026593dup" "" "pathogenic" ""
"0000087011" "1" "90" "12" "49418469" "49418469" "dup" "0" "01484" "KMT2D_000134" "g.49418469dup" "" "{PMID:Makrythanasis 2013:23320472}" "" "15947dup, (Asn5316Lysfs*29)" "" "Germline" "?" "" "0" "" "" "g.49024686dup" "" "pathogenic" ""
"0000087012" "1" "90" "12" "49445526" "49445526" "subst" "0.000486959" "01484" "KMT2D_000496" "g.49445526G>T" "" "{PMID:Makrythanasis 2013:23320472}" "" "1940C>A, (Pro647Gln)" "" "Germline" "yes" "" "0" "" "" "g.49051743G>T" "" "pathogenic" ""
"0000087013" "1" "90" "12" "49441846" "49441846" "subst" "0" "01484" "KMT2D_000459" "g.49441846A>G" "" "{PMID:Makrythanasis 2013:23320472}" "" "4138T>C, (Cys1380Arg)" "" "Germline" "?" "" "0" "" "" "g.49048063A>G" "" "pathogenic" ""
"0000087014" "1" "90" "12" "49440399" "49440399" "subst" "0" "01484" "KMT2D_000439" "g.49440399A>G" "" "{PMID:Makrythanasis 2013:23320472}" "" "4411T>C, (Cys1471Arg)" "" "Germline" "yes" "" "0" "" "" "g.49046616A>G" "" "pathogenic" ""
"0000087015" "1" "50" "12" "49420661" "49420661" "subst" "0" "01484" "KMT2D_000185" "g.49420661G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026878G>A" "" "VUS" ""
"0000087016" "1" "90" "12" "49420661" "49420661" "subst" "0" "01484" "KMT2D_000185" "g.49420661G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "15088C>T, (Arg5030Cys)" "" "Germline" "?" "" "0" "" "" "g.49026878G>A" "" "pathogenic" ""
"0000087017" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "15142C>T, (Arg5048Cys)" "" "Germline" "?" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087018" "1" "50" "12" "49420606" "49420606" "subst" "0" "01484" "KMT2D_000180" "g.49420606C>T" "" "{PMID:Makrythanasis 2013:23320472}" "" "" "" "Germline" "?" "" "0" "" "" "g.49026823C>T" "" "VUS" ""
"0000087019" "1" "90" "12" "49420109" "49420109" "subst" "0" "01484" "KMT2D_000146" "g.49420109G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "15640C>T, (Arg5214Cys)" "" "Germline" "?" "" "0" "" "" "g.49026326G>A" "" "pathogenic" ""
"0000087020" "1" "90" "12" "49416417" "49416417" "subst" "0" "01484" "KMT2D_000121" "g.49416417G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "16294C>T, (Arg5432Trp)" "" "Germline" "yes" "" "0" "" "" "g.49022634G>A" "" "pathogenic" ""
"0000087021" "1" "90" "12" "49415854" "49415854" "subst" "0" "01484" "KMT2D_000555" "g.49415854G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "16493C>T, (Ser5498Phe)" "" "Germline" "yes" "" "0" "" "" "g.49022071G>A" "" "pathogenic" ""
"0000087022" "1" "90" "12" "49448091" "49448091" "subst" "0" "01484" "KMT2D_000530" "g.49448091T>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "509A>T, ?" "" "Germline" "?" "" "0" "" "" "g.49054308T>A" "" "pathogenic" ""
"0000087023" "1" "90" "12" "49448090" "49448090" "subst" "0" "01484" "KMT2D_000006" "g.49448090C>G" "" "{PMID:Makrythanasis 2013:23320472}" "" "510G>C, ?" "" "Germline" "yes" "" "0" "" "" "g.49054307C>G" "" "pathogenic" ""
"0000087024" "1" "90" "12" "49448090" "49448090" "subst" "0" "01484" "KMT2D_000529" "g.49448090C>T" "" "{PMID:Makrythanasis 2013:23320472}" "" "510G>A, ?" "" "Germline" "yes" "" "0" "" "" "g.49054307C>T" "" "pathogenic" ""
"0000087025" "1" "90" "12" "49436344" "49436344" "del" "0" "01484" "KMT2D_000402" "g.49436344del" "" "{PMID:Makrythanasis 2013:23320472}" "" "5867+1del, ?" "" "Germline" "?" "" "0" "" "" "g.49042561del" "" "pathogenic" ""
"0000087072" "1" "90" "12" "49433617" "49433617" "subst" "0" "01484" "KMT2D_000077" "g.49433617C>A" "" "{PMID:Micale 2014:24633898}" "" "7936G>T, Glu2646X" "" "Germline" "yes" "" "0" "" "" "g.49039834C>A" "" "pathogenic" ""
"0000087094" "1" "90" "12" "49431302" "49431319" "dup" "0" "01484" "KMT2D_000324" "g.49431302_49431319dup" "" "{PMID:Miyake 2013:23913813}" "" "9831_9848dup, Gln3277_Gln3282dup" "" "Germline" "?" "" "0" "" "" "g.49037519_49037536dup" "" "pathogenic" ""
"0000087095" "1" "90" "12" "49425800" "49425800" "subst" "0" "01484" "KMT2D_000246" "g.49425800G>A" "" "{PMID:Miyake 2013:23913813}" "" "12688C>T, Gln4230*" "" "Germline" "yes" "" "0" "" "" "g.49032017G>A" "" "pathogenic" ""
"0000087096" "1" "90" "12" "49445032" "49445033" "ins" "0" "01484" "KMT2D_000490" "g.49445032_49445033insTG" "" "{PMID:Miyake 2013:23913813}" "" "2433_2434insCA, Glu812Glnfs*119" "" "Germline" "yes" "" "0" "" "" "g.49051249_49051250insTG" "" "pathogenic" ""
"0000087097" "1" "90" "12" "49426682" "49426683" "dup" "0" "01484" "KMT2D_000280" "g.49426682_49426683dup" "" "{PMID:Miyake 2013:23913813}" "" "11806_11807dup, Gln3936Hisfs*44" "" "Germline" "yes" "" "0" "" "" "g.49032899_49032900dup" "" "pathogenic" ""
"0000087098" "1" "90" "12" "49420630" "49420630" "subst" "0" "01484" "KMT2D_000183" "g.49420630T>C" "" "{PMID:Miyake 2013:23913813}" "" "15119A>G, Asp5040Gly" "" "Germline" "yes" "" "0" "" "" "g.49026847T>C" "" "pathogenic" ""
"0000087099" "1" "90" "12" "49436599" "49436599" "subst" "0" "01484" "KMT2D_000410" "g.49436599G>A" "" "{PMID:Miyake 2013:23913813}" "" "5707C>T, Arg1903*" "" "Germline" "yes" "" "0" "" "" "g.49042816G>A" "" "pathogenic" ""
"0000087100" "1" "90" "12" "49426338" "49426338" "del" "0" "01484" "KMT2D_000266" "g.49426338del" "" "{PMID:Miyake 2013:23913813}" "" "12151delA, Ile4051*" "" "Germline" "yes" "" "0" "" "" "g.49032555del" "" "pathogenic" ""
"0000087101" "1" "90" "12" "49446171" "49446171" "del" "0" "01484" "KMT2D_000510" "g.49446171del" "" "{PMID:Miyake 2013:23913813}" "" "1300delC, Leu434*" "" "Germline" "?" "" "0" "" "" "g.49052388del" "" "pathogenic" ""
"0000087102" "1" "90" "12" "49444046" "49444056" "dup" "0" "01484" "KMT2D_000477" "g.49444046_49444056dup" "" "{PMID:Miyake 2013:23913813}" "" "3326_3336dup, Asp1113Profs*10" "" "Germline" "?" "" "0" "" "" "g.49050263_49050273dup" "" "pathogenic" ""
"0000087103" "1" "90" "12" "49442446" "49442446" "subst" "0" "01484" "KMT2D_000460" "g.49442446A>C" "" "{PMID:Miyake 2013:23913813}" "" "4127T>G, Met1376Arg" "" "Germline" "?" "" "0" "" "" "g.49048663A>C" "" "pathogenic" ""
"0000087104" "1" "90" "12" "49420288" "49420288" "subst" "0" "01484" "KMT2D_000158" "g.49420288C>T" "" "{PMID:Miyake 2013:23913813}" "" "15461G>A, Arg5154Gln" "" "Germline" "?" "" "0" "" "" "g.49026505C>T" "" "pathogenic" ""
"0000087105" "1" "90" "12" "49444858" "49444858" "subst" "0" "01484" "KMT2D_000487" "g.49444858C>A" "" "{PMID:Miyake 2013:23913813}" "" "2608G>T, Glu870*" "" "Germline" "?" "" "0" "" "" "g.49051075C>A" "" "pathogenic" ""
"0000087106" "1" "90" "12" "49426571" "49426571" "subst" "0" "01484" "KMT2D_000272" "g.49426571G>A" "" "{PMID:Miyake 2013:23913813}" "" "11917C>T, Gln3973*" "" "Germline" "?" "" "0" "" "" "g.49032788G>A" "" "pathogenic" ""
"0000087107" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Miyake 2013:23913813}" "" "15142C>T, Arg5048Cys" "" "Germline" "yes" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087108" "1" "90" "12" "49420888" "49420888" "subst" "0" "01484" "KMT2D_000195" "g.49420888G>T" "" "{PMID:Miyake 2013:23913813}" "" "14861C>A, Ser4954*" "" "Germline" "?" "" "0" "" "" "g.49027105G>T" "" "pathogenic" ""
"0000087109" "1" "90" "12" "49440208" "49440208" "subst" "0" "01484" "KMT2D_000436" "g.49440208C>A" "" "{PMID:Miyake 2013:23913813}" "" "4419-1G>T, splice site" "" "Germline" "?" "" "0" "" "" "g.49046425C>A" "" "pathogenic" ""
"0000087110" "1" "90" "12" "49439908" "49439908" "subst" "0" "01484" "KMT2D_000431" "g.49439908G>A" "" "{PMID:Miyake 2013:23913813}" "" "4633C>T, Gln1545*" "" "Germline" "?" "" "0" "" "" "g.49046125G>A" "" "pathogenic" ""
"0000087111" "1" "90" "12" "49433388" "49433388" "subst" "0" "01484" "KMT2D_000363" "g.49433388G>A" "" "{PMID:Miyake 2013:23913813}" "" "8059C>T, Arg2687*" "" "Germline" "?" "" "0" "" "" "g.49039605G>A" "" "pathogenic" ""
"0000087112" "1" "90" "12" "49426526" "49426526" "subst" "0" "01484" "KMT2D_000270" "g.49426526G>A" "" "{PMID:Miyake 2013:23913813}" "" "11962C>T, Gln3988*" "" "Germline" "?" "" "0" "" "" "g.49032743G>A" "" "pathogenic" ""
"0000087113" "1" "90" "12" "49439709" "49439710" "del" "0" "01484" "KMT2D_000428" "g.49439709_49439710del" "" "{PMID:Miyake 2013:23913813}" "" "4736_4737delAG, Glu1579Alafs*23" "" "Germline" "?" "" "0" "" "" "g.49045926_49045927del" "" "pathogenic" ""
"0000087114" "1" "90" "12" "49420606" "49420606" "subst" "0" "01484" "KMT2D_000180" "g.49420606C>T" "" "{PMID:Miyake 2013:23913813}" "" "15143G>A, Arg5048His" "" "Germline" "?" "" "0" "" "" "g.49026823C>T" "" "pathogenic" ""
"0000087115" "1" "90" "12" "49420592" "49420597" "dup" "0" "01484" "KMT2D_000178" "g.49420592_49420597dup" "" "{PMID:Miyake 2013:23913813}" "" "15163_15168dup, Asp5055_Leu5056dup" "" "Germline" "?" "" "0" "" "" "g.49026809_49026814dup" "" "pathogenic" ""
"0000087116" "1" "90" "12" "49446142" "49446142" "del" "0" "01484" "KMT2D_000508" "g.49446142del" "" "{PMID:Miyake 2013:23913813}" "" "1328delC, Pro443Hisfs*487" "" "Germline" "yes" "" "0" "" "" "g.49052359del" "" "pathogenic" ""
"0000087117" "1" "90" "12" "49418361" "49418361" "subst" "0" "01484" "KMT2D_000130" "g.49418361C>T" "" "{PMID:Miyake 2013:23913813}" "" "16052G>A, Arg5351Gln" "" "Germline" "yes" "" "0" "" "" "g.49024578C>T" "" "pathogenic" ""
"0000087118" "1" "90" "12" "49448089" "49448089" "subst" "0" "01484" "KMT2D_000528" "g.49448089C>T" "" "{PMID:Miyake 2013:23913813}" "" "510+1G>A, splice site" "" "Germline" "?" "" "0" "" "" "g.49054306C>T" "" "pathogenic" ""
"0000087119" "1" "90" "12" "49420184" "49420184" "subst" "0" "01484" "KMT2D_000149" "g.49420184C>T" "" "{PMID:Miyake 2013:23913813}" "" "15565G>A, Gly5189Arg" "" "Germline" "?" "" "0" "" "" "g.49026401C>T" "" "pathogenic" ""
"0000087120" "1" "90" "12" "49435255" "49435256" "del" "0" "01484" "KMT2D_000394" "g.49435255_49435256del" "" "{PMID:Miyake 2013:23913813}" "" "6297_6298delAC, Pro2100Glyfs*54" "" "Germline" "yes" "" "0" "" "" "g.49041472_49041473del" "" "pathogenic" ""
"0000087121" "1" "90" "12" "49439847" "49439847" "subst" "0" "01484" "KMT2D_000429" "g.49439847C>A" "" "{PMID:Miyake 2013:23913813}" "" "4693+1G>T, splice site" "" "Germline" "yes" "" "0" "" "" "g.49046064C>A" "" "pathogenic" ""
"0000087122" "1" "90" "12" "49431049" "49431049" "subst" "0" "01484" "KMT2D_000322" "g.49431049G>A" "" "{PMID:Miyake 2013:23913813}" "" "10090C>T, Gln3364*" "" "Germline" "yes" "" "0" "" "" "g.49037266G>A" "" "pathogenic" ""
"0000087123" "1" "90" "12" "49432738" "49432738" "subst" "0" "01484" "KMT2D_000355" "g.49432738G>A" "" "{PMID:Miyake 2013:23913813}" "" "8401C>T, Arg2801*" "" "Germline" "yes" "" "0" "" "" "g.49038955G>A" "" "pathogenic" ""
"0000087124" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Miyake 2013:23913813}" "" "15536G>A, Arg5179His" "" "Germline" "yes" "" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000087125" "1" "90" "12" "49440477" "49440477" "subst" "0" "01484" "KMT2D_000443" "g.49440477A>C" "" "{PMID:Miyake 2013:23913813}" "" "4333T>G, Cys1445Gly" "" "Germline" "yes" "" "0" "" "" "g.49046694A>C" "" "pathogenic" ""
"0000087126" "1" "90" "12" "49420493" "49420493" "subst" "0" "01484" "KMT2D_000170" "g.49420493G>A" "" "{PMID:Miyake 2013:23913813}" "" "15256C>T, Arg5086*" "" "Germline" "yes" "" "0" "" "" "g.49026710G>A" "" "pathogenic" ""
"0000087127" "1" "90" "12" "49426727" "49426727" "subst" "0" "01484" "KMT2D_000285" "g.49426727G>A" "" "{PMID:Miyake 2013:23913813}" "" "11761C>T, Gln3921*" "" "Germline" "?" "" "0" "" "" "g.49032944G>A" "" "pathogenic" ""
"0000087128" "1" "90" "12" "49437701" "49437701" "subst" "0" "01484" "KMT2D_000416" "g.49437701G>A" "" "{PMID:Miyake 2013:23913813}" "" "5269C>T, Arg1757*" "" "Germline" "yes" "" "0" "" "" "g.49043918G>A" "" "pathogenic" ""
"0000087129" "1" "90" "12" "49420592" "49420597" "dup" "0" "01484" "KMT2D_000178" "g.49420592_49420597dup" "" "{PMID:Miyake 2013:23913813}" "" "15163_15168dup, Asp5055_Leu5056dup" "" "Germline" "?" "" "0" "" "" "g.49026809_49026814dup" "" "pathogenic" ""
"0000087130" "1" "90" "12" "49440049" "49440049" "subst" "0" "01484" "KMT2D_000432" "g.49440049C>A" "" "{PMID:Miyake 2013:23913813}" "" "4577G>T, Cys1526Phe" "" "Germline" "yes" "" "0" "" "" "g.49046266C>A" "" "pathogenic" ""
"0000087131" "1" "90" "12" "49426544" "49426544" "subst" "0" "01484" "KMT2D_000271" "g.49426544G>A" "" "{PMID:Miyake 2013:23913813}" "" "11944C>T, Arg3982*" "" "Germline" "yes" "" "0" "" "" "g.49032761G>A" "" "pathogenic" ""
"0000087132" "1" "90" "12" "49424159" "49424159" "subst" "0" "01484" "KMT2D_000215" "g.49424159G>A" "" "{PMID:Miyake 2013:23913813}" "" "13903C>T, Gln4635*" "" "Germline" "yes" "" "0" "" "" "g.49030376G>A" "" "pathogenic" ""
"0000087133" "1" "90" "12" "49426268" "49426268" "subst" "0" "01484" "KMT2D_000261" "g.49426268G>A" "" "{PMID:Miyake 2013:23913813}" "" "12220C>T, Gln4074*" "" "Germline" "?" "" "0" "" "" "g.49032485G>A" "" "pathogenic" ""
"0000087134" "1" "90" "12" "49420688" "49420688" "subst" "0" "01484" "KMT2D_000188" "g.49420688G>A" "" "{PMID:Miyake 2013:23913813}" "" "15061C>T, Arg5021*" "" "Germline" "yes" "" "0" "" "" "g.49026905G>A" "" "pathogenic" ""
"0000087135" "1" "90" "12" "49426214" "49426214" "subst" "0" "01484" "KMT2D_000259" "g.49426214G>A" "" "{PMID:Miyake 2013:23913813}" "" "12274C>T, Gln4092*" "" "Germline" "?" "" "0" "" "" "g.49032431G>A" "" "pathogenic" ""
"0000087136" "1" "90" "12" "49440141" "49440142" "del" "0" "01484" "KMT2D_000434" "g.49440141_49440142del" "" "{PMID:Miyake 2013:23913813}" "" "4490_4491delAC, His1497Leufs*30" "" "Germline" "yes" "" "0" "" "" "g.49046358_49046359del" "" "pathogenic" ""
"0000087137" "1" "90" "12" "49416372" "49416372" "subst" "0" "01484" "KMT2D_000550" "g.49416372C>A" "" "{PMID:Miyake 2013:23913813}" "" "16338+1G>T, splice site" "" "Germline" "yes" "" "0" "" "" "g.49022589C>A" "" "pathogenic" ""
"0000087138" "1" "90" "12" "49420661" "49420661" "subst" "0" "01484" "KMT2D_000185" "g.49420661G>A" "" "{PMID:Miyake 2013:23913813}" "" "15088C>T, Arg5030Cys" "" "Germline" "?" "" "0" "" "" "g.49026878G>A" "" "pathogenic" ""
"0000087139" "1" "90" "12" "49443860" "49443860" "subst" "0" "01484" "KMT2D_000475" "g.49443860C>A" "" "{PMID:Miyake 2013:23913813}" "" "3511G>T, Glu1171*" "" "Germline" "yes" "" "0" "" "" "g.49050077C>A" "" "pathogenic" ""
"0000087140" "1" "90" "12" "49426766" "49426766" "subst" "0" "01484" "KMT2D_000289" "g.49426766G>A" "" "{PMID:Miyake 2013:23913813}" "" "11722C>T, Gln3908*" "" "Germline" "yes" "" "0" "" "" "g.49032983G>A" "" "pathogenic" ""
"0000087141" "1" "90" "12" "49444092" "49444093" "del" "0" "01484" "KMT2D_000480" "g.49444092_49444093del" "" "{PMID:Miyake 2013:23913813}" "" "3281_3282delTC, Leu1094Profs*20" "" "Germline" "yes" "" "0" "" "" "g.49050309_49050310del" "" "pathogenic" ""
"0000087142" "1" "90" "12" "49418360" "49418360" "subst" "0" "01484" "KMT2D_000129" "g.49418360C>G" "" "{PMID:Miyake 2013:23913813}" "" "16052+1G>C, splice site" "" "Germline" "?" "" "0" "" "" "g.49024577C>G" "" "pathogenic" ""
"0000087143" "1" "90" "12" "49440543" "49440543" "subst" "0" "01484" "KMT2D_000447" "g.49440543G>A" "" "{PMID:Miyake 2013:23913813}" "" "4267C>T, Arg1423Cys" "" "Germline" "?" "" "0" "" "" "g.49046760G>A" "" "pathogenic" ""
"0000087144" "1" "90" "12" "49426181" "49426181" "subst" "0" "01484" "KMT2D_000257" "g.49426181G>A" "" "{PMID:Lin 2015:25142838}" "" "12307C>T, Q4013X" "" "Germline" "yes" "" "0" "" "" "g.49032398G>A" "" "pathogenic" ""
"0000087145" "1" "90" "12" "49443617" "49443617" "subst" "0" "01484" "KMT2D_000467" "g.49443617G>A" "" "{PMID:Lin 2015:25142838}" "" "3754C>T, R1252X" "" "Germline" "yes" "" "0" "" "" "g.49049834G>A" "" "pathogenic" ""
"0000087146" "1" "90" "12" "49416417" "49416417" "subst" "0" "01484" "KMT2D_000121" "g.49416417G>A" "" "{PMID:Lin 2015:25142838}" "" "16294C>T, R5432X" "" "Germline" "yes" "" "0" "" "" "g.49022634G>A" "" "pathogenic" ""
"0000087147" "1" "90" "12" "49435988" "49435988" "subst" "0" "01484" "KMT2D_000398" "g.49435988T>C" "" "{PMID:Lin 2015:25142838}" "" "5993A>G, Y1998C" "" "Germline" "yes" "" "0" "" "" "g.49042205T>C" "" "pathogenic" ""
"0000087148" "1" "90" "12" "49416438" "49416438" "subst" "0" "01484" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Lin 2015:25142838}" "" "16273G>A, T5464M" "" "Germline" "yes" "" "0" "" "" "g.49022655C>T" "" "pathogenic" ""
"0000087149" "1" "90" "12" "49416438" "49416438" "subst" "0" "01484" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Lin 2015:25142838}" "" "16273G>A, T5464M" "" "Germline" "yes" "" "0" "" "" "g.49022655C>T" "" "pathogenic" ""
"0000087150" "1" "90" "12" "49416438" "49416438" "subst" "0" "01484" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Lin 2015:25142838}" "" "16273G>A, T5464M" "" "Germline" "yes" "" "0" "" "" "g.49022655C>T" "" "pathogenic" ""
"0000087151" "1" "90" "12" "49432396" "49432396" "subst" "4.08033E-6" "01484" "KMT2D_000342" "g.49432396G>A" "" "{PMID:Lin 2015:25142838}" "" "8743C>T, R2915X" "" "Germline" "yes" "" "0" "" "" "g.49038613G>A" "" "pathogenic" ""
"0000087152" "1" "90" "12" "49437701" "49437701" "subst" "0" "01484" "KMT2D_000416" "g.49437701G>A" "" "{PMID:Lin 2015:25142838}" "" "5269C>T, R1757X" "" "Germline" "yes" "" "0" "" "" "g.49043918G>A" "" "pathogenic" ""
"0000087153" "1" "90" "12" "49416438" "49416438" "subst" "0" "01484" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Lin 2015:25142838}" "" "16273G>A, E5425K" "" "Germline" "yes" "" "0" "" "" "g.49022655C>T" "" "pathogenic" ""
"0000087154" "1" "90" "12" "49433903" "49433904" "del" "0" "01484" "KMT2D_000369" "g.49433903_49433904del" "" "{PMID:Lin 2015:25142838}" "" "7650-1delCT, P2550Rfs2604X" "" "Germline" "yes" "" "0" "" "" "g.49040120_49040121del" "" "pathogenic" ""
"0000087155" "1" "90" "12" "49416576" "49416576" "subst" "0" "01484" "KMT2D_000125" "g.49416576G>A" "" "{PMID:Lin 2015:25142838}" "" "16135C>T, Q5379X" "" "Germline" "yes" "" "0" "" "" "g.49022793G>A" "" "pathogenic" ""
"0000087156" "1" "90" "12" "49420423" "49420423" "subst" "0" "01484" "KMT2D_000168" "g.49420423C>A" "" "{PMID:Lin 2015:25142838}" "" "15326G>T, C5109F" "" "Germline" "yes" "" "0" "" "" "g.49026640C>A" "" "pathogenic" ""
"0000087157" "1" "90" "12" "49415849" "49415849" "subst" "0" "01484" "KMT2D_000554" "g.49415849G>A" "" "{PMID:Lin 2015:25142838}" "" "16498C>T, R5500W" "" "Germline" "yes" "" "0" "" "" "g.49022066G>A" "" "pathogenic" ""
"0000087158" "1" "90" "12" "49440539" "49440539" "subst" "0" "01484" "KMT2D_000446" "g.49440539C>A" "" "{PMID:Cheon 2014:24739679}" "" "4271G>T, C1424F" "" "Germline" "yes" "" "0" "" "" "g.49046756C>A" "" "pathogenic" ""
"0000087159" "1" "90" "12" "49433340" "49433340" "subst" "0" "01484" "KMT2D_000362" "g.49433340C>A" "" "{PMID:Cheon 2014:24739679}" "" "8107G>T, E2703*" "" "Germline" "yes" "" "0" "" "" "g.49039557C>A" "" "pathogenic" ""
"0000087160" "1" "90" "12" "49421904" "49421904" "del" "0" "01484" "KMT2D_000206" "g.49421904del" "" "{PMID:Cheon 2014:24739679}" "" "14404delG, A4802Qfs*6" "" "Germline" "yes" "" "0" "" "" "g.49028121del" "" "pathogenic" ""
"0000087161" "1" "90" "12" "49425229" "49425229" "subst" "6.10421E-5" "01484" "KMT2D_000228" "g.49425229C>T" "" "{PMID:Cheon 2014:24739679}" "" "13259G>A, R4420Q" "" "Germline" "yes" "" "0" "" "" "g.49031446C>T" "" "pathogenic" ""
"0000087162" "1" "90" "12" "49431976" "49431976" "del" "0" "01484" "KMT2D_000334" "g.49431976del" "" "{PMID:Cheon 2014:24739679}" "" "9164delC, P3055Lfs*16" "" "Germline" "yes" "" "0" "" "" "g.49038193del" "" "pathogenic" ""
"0000087163" "1" "90" "12" "49425896" "49425896" "subst" "0" "01484" "KMT2D_000250" "g.49425896G>A" "" "{PMID:Cheon 2014:24739679}" "" "12592C>T, R4198*" "" "Germline" "yes" "" "0" "" "" "g.49032113G>A" "" "pathogenic" ""
"0000087164" "1" "90" "12" "49436533" "49436533" "dup" "0" "01484" "KMT2D_000408" "g.49436533dup" "" "{PMID:Cheon 2014:24739679}" "" "5775_6insT, L1926Sfs*31" "" "Germline" "yes" "" "0" "" "" "g.49042750dup" "" "pathogenic" ""
"0000087165" "1" "90" "12" "49441848" "49441849" "del" "0" "01484" "KMT2D_000062" "g.49441848_49441849del" "" "{PMID:Cheon 2014:24739679}" "" "4135_6delAT, M1379V fs*52" "" "Germline" "yes" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic" ""
"0000087166" "1" "90" "12" "49426973" "49426973" "subst" "0" "01484" "KMT2D_000298" "g.49426973G>A" "" "{PMID:Cheon 2014:24739679}" "" "11515C>T, Q3839*" "" "Germline" "yes" "" "0" "" "" "g.49033190G>A" "" "pathogenic" ""
"0000087167" "1" "90" "12" "49426655" "49426655" "subst" "0" "01484" "KMT2D_000277" "g.49426655G>A" "" "{PMID:Cheon 2014:24739679}" "" "11833C>T, Q3945*" "" "Germline" "yes" "" "0" "" "" "g.49032872G>A" "" "pathogenic" ""
"0000087168" "1" "90" "12" "49447378" "49447378" "del" "0" "01484" "KMT2D_000521" "g.49447378del" "" "{PMID:Dentici 2015:25281733}" "" "721del, (Leu241Cysfs*20)" "" "Germline" "yes" "" "0" "" "" "g.49053595del" "" "pathogenic" ""
"0000087169" "1" "90" "12" "49446120" "49446121" "del" "0" "01484" "KMT2D_000507" "g.49446120_49446121del" "" "{PMID:Dentici 2015:25281733}" "" "1345_1346del, (Leu449Valfs*5)" "" "Germline" "?" "" "0" "" "" "g.49052337_49052338del" "" "pathogenic" ""
"0000087170" "1" "90" "12" "49444204" "49444214" "del" "0" "01484" "KMT2D_000056" "g.49444204_49444214del" "" "{PMID:Dentici 2015:25281733}" "" "3161_3171del, (Pro1054Hisfs*10)" "" "Germline" "?" "" "0" "" "" "g.49050421_49050431del" "" "pathogenic" ""
"0000087171" "1" "90" "12" "49444057" "49444057" "dup" "0" "01484" "KMT2D_000479" "g.49444057dup" "" "{PMID:Dentici 2015:25281733}" "" "3318dup, (Ser1107Glnfs*8)" "" "Germline" "?" "" "0" "" "" "g.49050274dup" "" "pathogenic" ""
"0000087172" "1" "90" "12" "49443839" "49443839" "subst" "0" "01484" "KMT2D_000474" "g.49443839G>A" "" "{PMID:Dentici 2015:25281733}" "" "3532C>T, (Gln1178*)" "" "Germline" "?" "" "0" "" "" "g.49050056G>A" "" "pathogenic" ""
"0000087173" "1" "90" "12" "49436599" "49436599" "subst" "0" "01484" "KMT2D_000410" "g.49436599G>A" "" "{PMID:Dentici 2015:25281733}" "" "5707C>T, (Arg1903*)" "" "Germline" "yes" "" "0" "" "" "g.49042816G>A" "" "pathogenic" ""
"0000087174" "1" "90" "12" "49433287" "49433287" "subst" "0" "01484" "KMT2D_000361" "g.49433287C>T" "" "{PMID:Dentici 2015:25281733}" "" "8160G>A, (Trp2720*)" "" "Germline" "yes" "" "0" "" "" "g.49039504C>T" "" "pathogenic" ""
"0000087175" "1" "90" "12" "49425038" "49425038" "subst" "0" "01484" "KMT2D_000223" "g.49425038G>A" "" "{PMID:Dentici 2015:25281733}" "" "13450C>T, (Arg4484*)" "" "Germline" "?" "" "0" "" "" "g.49031255G>A" "" "pathogenic" ""
"0000087176" "1" "90" "12" "49420474" "49420474" "subst" "0" "01484" "KMT2D_000169" "g.49420474C>T" "" "{PMID:Dentici 2015:25281733}" "" "15275G>A, (Cys5092Tyr)" "" "Germline" "?" "" "0" "" "" "g.49026691C>T" "" "pathogenic" ""
"0000087177" "1" "90" "12" "49420214" "49420214" "subst" "0" "01484" "KMT2D_000156" "g.49420214G>A" "" "{PMID:Dentici 2015:25281733}" "" "15535C>T , (Arg5179Cys)" "" "Germline" "?" "" "0" "" "" "g.49026431G>A" "" "pathogenic" ""
"0000087178" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Morgan 2015:25755104}" "" "6595del, Tyr2199llefs*" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000087179" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Morgan 2015:25755104}" "" "15536G>A, Arg5179His" "" "Germline" "yes" "" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000087180" "1" "90" "12" "49420225" "49420228" "dup" "0" "01484" "KMT2D_000157" "g.49420225_49420228dup" "" "{PMID:Morgan 2015:25755104}" "" "15522_15525dup, His5176Alafs*24" "" "Germline" "yes" "" "0" "" "" "g.49026442_49026445dup" "" "pathogenic" ""
"0000087181" "1" "90" "12" "49427034" "49427034" "del" "0" "01484" "KMT2D_000301" "g.49427034del" "" "{PMID:Morgan 2015:25755104}" "" "11456del, Gly3819Alafs*11" "" "Germline" "yes" "" "0" "" "" "g.49033251del" "" "pathogenic" ""
"0000087182" "1" "90" "12" "49441824" "49441824" "subst" "0" "01484" "KMT2D_000457" "g.49441824C>T" "" "{PMID:Morgan 2015:25755104}" "" "4160G>A, Gly1387Asp" "" "Germline" "yes" "" "0" "" "" "g.49048041C>T" "" "pathogenic" ""
"0000087183" "1" "90" "12" "49440517" "49440525" "del" "0" "01484" "KMT2D_000444" "g.49440517_49440525del" "" "{PMID:Morgan 2015:25755104}" "" "4292_4300del, Glu1431_Cys1433del" "" "Germline" "yes" "" "0" "" "" "g.49046734_49046742del" "" "pathogenic" ""
"0000087184" "1" "90" "12" "49420288" "49420288" "subst" "0" "01484" "KMT2D_000158" "g.49420288C>T" "" "{PMID:Morgan 2015:25755104}" "" "15461G>A, Arg5154Gln" "" "Germline" "yes" "" "0" "" "" "g.49026505C>T" "" "pathogenic" ""
"0000087185" "1" "90" "12" "49420201" "49420201" "subst" "0" "01484" "KMT2D_000151" "g.49420201A>G" "" "{PMID:Morgan 2015:25755104}" "" "15548T>C, Leu5183Pro" "" "Germline" "yes" "" "0" "" "" "g.49026418A>G" "" "pathogenic" ""
"0000087186" "1" "90" "12" "49425665" "49425665" "subst" "0" "01484" "KMT2D_000240" "g.49425665G>A" "" "{PMID:Morgan 2015:25755104}" "" "12823C>T, Gln4275*" "" "Germline" "?" "" "0" "" "" "g.49031882G>A" "" "pathogenic" ""
"0000087187" "1" "90" "12" "49444494" "49444494" "subst" "0" "01484" "KMT2D_000484" "g.49444494G>T" "" "{PMID:Morgan 2015:25755104}" "" "2877C>A, Tyr959*" "" "Germline" "?" "" "0" "" "" "g.49050711G>T" "" "pathogenic" ""
"0000087188" "1" "90" "12" "49420564" "49420564" "subst" "0" "01484" "KMT2D_000175" "g.49420564C>T" "" "{PMID:Morgan 2015:25755104}" "" "15185G>A, Cys5062Tyr" "" "Germline" "yes" "" "0" "" "" "g.49026781C>T" "" "pathogenic" ""
"0000087189" "1" "90" "12" "49425329" "49425329" "subst" "0" "01484" "KMT2D_000230" "g.49425329G>A" "" "{PMID:Morgan 2015:25755104}" "" "13159C>T, Gln4387*" "" "Germline" "yes" "" "0" "" "" "g.49031546G>A" "" "pathogenic" ""
"0000087190" "1" "90" "12" "49420297" "49420297" "del" "0" "01484" "KMT2D_000159" "g.49420297del" "" "{PMID:Morgan 2015:25755104}" "" "15452del, Val5151Alafs*12" "" "Germline" "yes" "" "0" "" "" "g.49026514del" "" "pathogenic" ""
"0000087191" "1" "90" "12" "49426289" "49426289" "subst" "0" "01484" "KMT2D_000262" "g.49426289G>A" "" "{PMID:Liu 2015:25896430}" "" "12199C>T, Pro4067Ser" "" "Germline" "yes" "" "0" "" "" "g.49032506G>A" "" "pathogenic" ""
"0000087192" "1" "90" "12" "49416416" "49416416" "subst" "0" "01484" "KMT2D_000120" "g.49416416C>T" "" "{PMID:Liu 2015:25896430}" "" "16295G>A, Arg5432Gln" "" "Germline" "yes" "" "0" "" "" "g.49022633C>T" "" "pathogenic" ""
"0000087193" "1" "90" "12" "49439877" "49439877" "subst" "8.30903E-6" "01484" "KMT2D_000430" "g.49439877G>A" "" "{PMID:Liu 2015:25896430}" "" "4664C>T, Ser1555Phe" "" "Germline" "yes" "" "0" "" "" "g.49046094G>A" "" "pathogenic" ""
"0000087194" "1" "90" "12" "49432500" "49432500" "subst" "0" "01484" "KMT2D_000349" "g.49432500A>G" "" "{PMID:Liu 2015:25896430}" "" "8639T>C, Leu2880Pro" "" "Germline" "yes" "" "0" "" "" "g.49038717A>G" "" "pathogenic" ""
"0000087195" "1" "90" "12" "49444276" "49444276" "del" "0" "01484" "KMT2D_000482" "g.49444276del" "" "{PMID:Liu 2015:25896430}" "" "3095delT, Leu1032Argfs24X" "" "Germline" "?" "" "0" "" "" "g.49050493del" "" "pathogenic" ""
"0000087196" "1" "90" "12" "49448763" "49448763" "subst" "0" "01484" "KMT2D_000535" "g.49448763G>C" "" "{PMID:Liu 2015:25896430}" "" "96C>G, Asp32Glu" "" "Germline" "yes" "" "0" "" "" "g.49054980G>C" "" "pathogenic" ""
"0000087197" "1" "90" "12" "49440418" "49440418" "dup" "0" "01484" "KMT2D_000440" "g.49440418dup" "" "{PMID:Liu 2015:25896430}" "" "4395dupC, Lys1466Glnfs25X" "" "Germline" "?" "" "0" "" "" "g.49046635dup" "" "pathogenic" ""
"0000087198" "1" "90" "12" "49426850" "49426850" "subst" "0" "01484" "KMT2D_000294" "g.49426850G>T" "" "{PMID:Liu 2015:25896430}" "" "11638C>A, Leu3880Met" "" "Germline" "?" "" "0" "" "" "g.49033067G>T" "" "pathogenic" ""
"0000087199" "1" "90" "12" "49441844" "49441844" "subst" "0" "01484" "KMT2D_000458" "g.49441844A>T" "" "{PMID:Liu 2015:25896430}" "" "4140T>A, Cys1370X" "" "Germline" "?" "" "0" "" "" "g.49048061A>T" "" "pathogenic" ""
"0000087200" "1" "90" "12" "49426765" "49426770" "del" "0" "01484" "KMT2D_000287" "g.49426765_49426770del" "" "{PMID:Liu 2015:25896430}" "" "11718-11723delGCAACA, p3907-3909delQQ" "" "Germline" "?" "" "0" "" "" "g.49032982_49032987del" "" "pathogenic" ""
"0000087201" "1" "90" "12" "49425800" "49425800" "subst" "0" "01484" "KMT2D_000246" "g.49425800G>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "12688C>T, Gln4230*" "" "Germline" "?" "" "0" "" "" "g.49032017G>A" "" "pathogenic" ""
"0000087202" "1" "90" "12" "49431178" "49431178" "subst" "0" "01484" "KMT2D_000015" "g.49431178G>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "9961C>T, Arg3321*" "" "Germline" "?" "" "0" "" "" "g.49037395G>A" "" "pathogenic" ""
"0000087203" "1" "90" "12" "49432396" "49432396" "subst" "4.08033E-6" "01484" "KMT2D_000342" "g.49432396G>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "8743C>T, Arg2915*" "" "Germline" "?" "" "0" "" "" "g.49038613G>A" "" "pathogenic" ""
"0000087204" "1" "90" "12" "49421090" "49421090" "subst" "0" "01484" "KMT2D_000202" "g.49421090C>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "14659G>T, Glu4887*" "" "Germline" "?" "" "0" "" "" "g.49027307C>A" "" "pathogenic" ""
"0000087205" "1" "90" "12" "49436071" "49436078" "del" "0" "01484" "KMT2D_000399" "g.49436071_49436078del" "" "{PMID:Van Laarhoven 2015:25972376}" "" "5908_5915del, Asp1970Leufs*20" "" "Germline" "?" "" "0" "" "" "g.49042288_49042295del" "" "pathogenic" ""
"0000087206" "1" "90" "12" "49420514" "49420517" "del" "0" "01484" "KMT2D_000171" "g.49420514_49420517del" "" "{PMID:Van Laarhoven 2015:25972376}" "" "15235_15238del, Asn5079Trpfs*10" "" "Germline" "?" "" "0" "" "" "g.49026731_49026734del" "" "pathogenic" ""
"0000087207" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "{PMID:Van Laarhoven 2015:25972376}" "" "6595del, Tyr2199Ilefs*65" "" "Germline" "?" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000087208" "1" "90" "12" "49434073" "49434073" "dup" "0" "01484" "KMT2D_000076" "g.49434073dup" "" "{PMID:Van Laarhoven 2015:25972376}" "" "7481dup, Ala2496Serfs*10" "" "Germline" "?" "" "0" "" "" "g.49040290dup" "" "pathogenic" ""
"0000087209" "1" "90" "12" "49415935" "49415935" "subst" "0" "01484" "KMT2D_000548" "g.49415935C>G" "" "{PMID:Van Laarhoven 2015:25972376}" "" "16413-1G>C," "" "Germline" "?" "" "0" "" "" "g.49022152C>G" "" "pathogenic" ""
"0000087210" "1" "90" "12" "49426677" "49426694" "del" "0" "01484" "KMT2D_000279" "g.49426677_49426694del" "" "{PMID:Van Laarhoven 2015:25972376}" "" "11796_11813del, Gln3934_Gln3939del" "" "Germline" "?" "" "0" "" "" "g.49032894_49032911del" "" "pathogenic" ""
"0000087211" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "15142C>T, Arg5048Cys" "" "Germline" "?" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087212" "1" "90" "12" "49421017" "49421017" "subst" "0" "01484" "KMT2D_000199" "g.49421017G>A" "" "{PMID:Van Laarhoven 2015:25972376}" "" "14732C>T, Pro4911Leu" "" "Germline" "?" "" "0" "" "" "g.49027234G>A" "" "pathogenic" ""
"0000087213" "1" "90" "12" "49416416" "49416416" "subst" "0" "01484" "KMT2D_000120" "g.49416416C>T" "" "{PMID:Kokitsu-Nakata 2012:22740433}" "" "16295G>A, R5432Q" "" "Germline" "yes" "" "0" "" "" "g.49022633C>T" "" "pathogenic" ""
"0000087214" "1" "90" "12" "49416416" "49416416" "subst" "0" "01484" "KMT2D_000120" "g.49416416C>T" "" "{PMID:Kokitsu-Nakata 2012:22740433}" "" "16295G>A, R5432Q" "" "Germline" "?" "" "0" "" "" "g.49022633C>T" "" "pathogenic" ""
"0000087215" "1" "90" "12" "49418670" "49418670" "subst" "0" "01484" "KMT2D_000138" "g.49418670G>A" "" "{PMID:Tanaka 2012:22786791}" "" "15844C>T, R5282X" "" "Germline" "?" "" "0" "" "" "g.49024887G>A" "" "pathogenic" ""
"0000087216" "1" "90" "12" "49416417" "49416417" "subst" "0" "01484" "KMT2D_000121" "g.49416417G>A" "" "{PMID:Tanaka 2012:22786791}" "" "16294C>T, R5432W" "" "Germline" "yes" "" "0" "" "" "g.49022634G>A" "" "pathogenic" ""
"0000087217" "1" "90" "12" "49431645" "49431645" "del" "0" "01484" "KMT2D_000330" "g.49431645del" "" "{PMID:Banka 2013:22901312}" "" "9494delA" "0.15 mosaic variant based on pyrosequencing" "Somatic" "" "" "0" "" "" "g.49037862del" "" "pathogenic" ""
"0000087218" "1" "90" "12" "49432666" "49432678" "del" "0" "01484" "KMT2D_000352" "g.49432666_49432678del" "" "{PMID:Banka 2013:22901312}" "" "8463_8475del13" "somatic mosaicism" "Somatic" "" "" "0" "" "" "g.49038883_49038895del" "" "pathogenic" ""
"0000087219" "1" "90" "12" "49431208" "49431208" "subst" "0" "01484" "KMT2D_000323" "g.49431208G>A" "" "{PMID:Zarate 2012:23239960}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49037425G>A" "" "pathogenic" ""
"0000087220" "1" "90" "12" "49439847" "49439847" "subst" "0" "01484" "KMT2D_000013" "g.49439847C>T" "" "{PMID:Ratbi 2013:23653588}" "" "4693+1G>A," "" "Germline" "yes" "" "0" "" "" "g.49046064C>T" "" "pathogenic" ""
"0000087221" "1" "90" "12" "49437714" "49437715" "del" "0" "01484" "KMT2D_000418" "g.49437714_49437715del" "" "{PMID:Kim 2013:24019847}" "" "5256_5257delGA, Lys1753Alafs*34" "" "Germline" "yes" "" "0" "" "" "g.49043931_49043932del" "" "pathogenic" ""
"0000087222" "1" "90" "12" "49434583" "49434583" "dup" "0" "01484" "KMT2D_000380" "g.49434583dup" "" "{PMID:Subbarayan 2014:24311525}" "" "6971dupC, Asp2325X" "" "Germline" "?" "" "0" "" "" "g.49040800dup" "" "pathogenic" ""
"0000087223" "1" "90" "12" "49436366" "49436366" "subst" "0" "01484" "KMT2D_000404" "g.49436366G>A" "" "{PMID:Subbarayan 2014:24311525}" "" "5845C>T, Gln1949X" "" "Germline" "?" "" "0" "" "" "g.49042583G>A" "" "pathogenic" ""
"0000087224" "1" "50" "12" "49444379" "49444379" "subst" "2.46658E-5" "01484" "KMT2D_000483" "g.49444379G>C" "" "{PMID:Subbarayan 2014:24311525}" "" "" "" "Germline" "?" "" "0" "" "" "g.49050596G>C" "" "VUS" ""
"0000087225" "1" "90" "12" "49434944" "49434944" "dup" "0" "01484" "KMT2D_000387" "g.49434944dup" "" "{PMID:Takagi 2014:24346842}" "" "6613_6614insG, Ala2205GlyfsX38" "" "Germline" "yes" "" "0" "" "" "g.49041161dup" "" "pathogenic" ""
"0000087226" "1" "90" "12" "49444204" "49444214" "del" "0" "01484" "KMT2D_000056" "g.49444204_49444214del" "" "{PMID:Cappuccio 2014:24472332}" "" "3161_3171delCGTTGAGTCCC, Pro1054HisfsX10" "" "Germline" "yes" "" "0" "" "" "g.49050421_49050431del" "" "pathogenic" ""
"0000087227" "1" "90" "12" "49416384" "49416384" "del" "0" "01484" "KMT2D_000551" "g.49416384del" "" "{PMID:Gohda 2015:25944076}" "" "16327delT, pY5443fs" "" "Germline" "?" "" "0" "" "" "g.49022601del" "" "pathogenic" ""
"0000087228" "1" "90" "12" "49416625" "49416626" "del" "0" "01484" "KMT2D_000128" "g.49416625_49416626del" "" "{PMID:Roma 2015:26341229}" "" "16085_16086delAG, Lys5362Serfs*96" "" "Germline" "?" "" "0" "" "" "g.49022842_49022843del" "" "pathogenic" ""
"0000087229" "1" "90" "12" "49427897" "49427897" "del" "0" "01484" "KMT2D_000315" "g.49427897del" "" "" "" "10694delA, Lys3565Serfs*93" "" "Germline" "?" "" "0" "" "" "g.49034114del" "" "pathogenic" ""
"0000087230" "1" "90" "12" "49426306" "49426306" "del" "0" "01484" "KMT2D_000263" "g.49426306del" "" "" "" "12183delA, Glu4061AspfsX5" "" "Germline" "yes" "" "0" "" "" "g.49032523del" "" "pathogenic" ""
"0000087231" "1" "90" "12" "49416416" "49416416" "subst" "0" "01484" "KMT2D_000120" "g.49416416C>T" "" "" "" "16295G>A, Arg5432Gln" "" "Germline" "?" "" "0" "" "" "g.49022633C>T" "" "pathogenic" ""
"0000087232" "1" "90" "12" "49416115" "49416115" "subst" "0" "01484" "KMT2D_000541" "g.49416115G>A" "" "" "" "16360C>T, Arg5454X" "" "Germline" "?" "" "0" "" "" "g.49022332G>A" "" "pathogenic" ""
"0000087233" "1" "90" "12" "49420422" "49420422" "del" "0" "01484" "KMT2D_000167" "g.49420422del" "" "" "" "15330delC, Pro5110ProfsX36" "" "Germline" "?" "" "0" "" "" "g.49026639del" "" "pathogenic" ""
"0000087234" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "" "" "15142C>T, Arg5048Cys" "" "Germline" "?" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087235" "1" "90" "12" "49440397" "49440397" "subst" "0" "01484" "KMT2D_000437" "g.49440397G>C" "" "" "" "4413C>G, Cys1471Trp" "" "Germline" "yes" "" "0" "" "" "g.49046614G>C" "" "pathogenic" ""
"0000087236" "1" "90" "12" "49418672" "49418672" "del" "0" "01484" "KMT2D_000139" "g.49418672del" "" "" "" "15842delT, Leu5281ArgfsX8" "" "Germline" "?" "" "0" "" "" "g.49024889del" "" "pathogenic" ""
"0000087237" "1" "90" "12" "49420670" "49420670" "subst" "0" "01484" "KMT2D_000022" "g.49420670G>A" "" "" "" "15079C>T, Arg5027X" "" "Germline" "yes" "" "0" "" "" "g.49026887G>A" "" "pathogenic" ""
"0000087238" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000155" "g.49420213C>A" "" "" "" "15536G>T, Arg5179Leu" "" "Germline" "yes" "" "0" "" "" "g.49026430C>A" "" "pathogenic" ""
"0000087239" "1" "90" "12" "49444965" "49444965" "dup" "0" "01484" "KMT2D_000489" "g.49444965dup" "" "" "" "2506dupC, Gln836ProfsX3" "" "Germline" "?" "" "0" "" "" "g.49051182dup" "" "pathogenic" ""
"0000087240" "1" "90" "12" "49420774" "49420774" "del" "0" "01484" "KMT2D_000189" "g.49420774del" "" "" "" "14975delT, Leu4992ArgfsX3" "" "Germline" "?" "" "0" "" "" "g.49026991del" "" "pathogenic" ""
"0000087241" "1" "90" "12" "49427015" "49427015" "dup" "0" "01484" "KMT2D_000300" "g.49427015dup" "" "" "" "11473dupA, Arg3825LysfsX187" "" "Germline" "?" "" "0" "" "" "g.49033232dup" "" "pathogenic" ""
"0000087242" "1" "90" "12" "49420400" "49420400" "subst" "0" "01484" "KMT2D_000164" "g.49420400A>C" "" "" "" "15349T>G, Cys5117Gly" "" "Germline" "yes" "" "0" "" "" "g.49026617A>C" "" "pathogenic" ""
"0000087243" "1" "90" "12" "49445121" "49445121" "del" "0" "01484" "KMT2D_000491" "g.49445121del" "" "" "" "2345delT, Val782GlyfsX148" "" "Germline" "yes" "" "0" "" "" "g.49051338del" "" "pathogenic" ""
"0000087244" "1" "90" "12" "49435258" "49435258" "subst" "0" "01484" "KMT2D_000395" "g.49435258G>A" "" "" "" "6295C>T, Arg2099X" "" "Germline" "?" "" "0" "" "" "g.49041475G>A" "" "pathogenic" ""
"0000087245" "1" "90" "12" "49446043" "49446043" "del" "0" "01484" "KMT2D_000505" "g.49446043del" "" "" "" "1425delC, Pro475ProfsX455" "" "Germline" "yes" "" "0" "" "" "g.49052260del" "" "pathogenic" ""
"0000087246" "1" "90" "12" "49431310" "49431310" "subst" "0" "01484" "KMT2D_000326" "g.49431310G>A" "" "" "" "9829C>T, Gln3277X" "" "Germline" "?" "" "0" "" "" "g.49037527G>A" "" "pathogenic" ""
"0000087247" "1" "90" "12" "49433247" "49433247" "subst" "0" "01484" "KMT2D_000360" "g.49433247G>A" "" "" "" "8200C>T, Arg2734*" "" "Germline" "yes" "" "0" "" "" "g.49039464G>A" "" "pathogenic" ""
"0000087248" "1" "90" "12" "49434958" "49434958" "del" "0" "01484" "KMT2D_000388" "g.49434958del" "" "" "" "6595delT, Tyr2199IlefsX65" "" "Germline" "yes" "" "0" "" "" "g.49041175del" "" "pathogenic" ""
"0000087249" "1" "90" "12" "49445303" "49445303" "del" "0" "01484" "KMT2D_000493" "g.49445303del" "" "" "" "2164delG, Glu722SerfsX208" "" "Germline" "yes" "" "0" "" "" "g.49051520del" "" "pathogenic" ""
"0000087250" "1" "90" "12" "49420076" "49420076" "subst" "0" "01484" "KMT2D_000144" "g.49420076G>A" "" "" "" "15673C>T, Arg5225Cys" "" "Germline" "yes" "" "0" "" "" "g.49026293G>A" "" "pathogenic" ""
"0000087251" "1" "90" "12" "49425890" "49425890" "subst" "0" "01484" "KMT2D_000249" "g.49425890G>A" "" "" "" "12598C>T, Gln4200X" "" "Germline" "yes" "" "0" "" "" "g.49032107G>A" "" "pathogenic" ""
"0000087252" "1" "90" "12" "49434928" "49434928" "del" "0" "01484" "KMT2D_000385" "g.49434928del" "" "" "" "6629delC, Pro2210AspfsX32" "" "Germline" "?" "" "0" "" "" "g.49041145del" "" "pathogenic" ""
"0000087253" "1" "90" "12" "49443463" "49443463" "subst" "0" "01484" "KMT2D_000463" "g.49443463A>G" "" "" "" "3906+2T>C, (?)" "" "Germline" "?" "" "0" "" "" "g.49049680A>G" "" "pathogenic" ""
"0000087254" "1" "90" "12" "49443747" "49443748" "del" "0" "01484" "KMT2D_000469" "g.49443747_49443748del" "" "" "" "3626_3627delCT, Ser1209X" "" "Germline" "yes" "" "0" "" "" "g.49049964_49049965del" "" "pathogenic" ""
"0000087255" "1" "90" "12" "49426637" "49426637" "subst" "0" "01484" "KMT2D_000275" "g.49426637G>A" "" "" "" "11851C>T, Gln3951X" "" "Germline" "yes" "" "0" "" "" "g.49032854G>A" "" "pathogenic" ""
"0000087256" "1" "90" "12" "49432117" "49432117" "subst" "0" "01484" "KMT2D_000337" "g.49432117C>A" "" "" "" "9022G>T, Glu3008*" "" "Germline" "yes" "" "0" "" "" "g.49038334C>A" "" "pathogenic" ""
"0000087257" "1" "90" "12" "49447347" "49447347" "dup" "0" "01484" "KMT2D_000519" "g.49447347dup" "" "" "" "751dupT, Tyr251LeufsX22" "" "Germline" "?" "" "0" "" "" "g.49053564dup" "" "pathogenic" ""
"0000087258" "1" "90" "12" "49426544" "49426544" "subst" "0" "01484" "KMT2D_000271" "g.49426544G>A" "" "" "" "11944C>T, Arg3982X" "" "Germline" "?" "" "0" "" "" "g.49032761G>A" "" "pathogenic" ""
"0000087259" "1" "90" "12" "49418594" "49418594" "subst" "0" "01484" "KMT2D_000137" "g.49418594G>C" "" "" "" "15920C>G, Ser5307*" "" "Germline" "yes" "" "0" "" "" "g.49024811G>C" "" "pathogenic" ""
"0000087260" "1" "90" "12" "49416438" "49416438" "subst" "0" "01484" "KMT2D_000053" "g.49416438C>T" "" "" "" "16273G>A, Glu5425Lys" "" "Germline" "?" "" "0" "" "" "g.49022655C>T" "" "pathogenic" ""
"0000087261" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "" "" "15142C>T, Arg5048Cys" "" "Germline" "yes" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087262" "1" "90" "12" "49420019" "49420019" "subst" "0" "01484" "KMT2D_000143" "g.49420019T>A" "" "" "" "15730A>T, Lys5244*" "" "Germline" "yes" "" "0" "" "" "g.49026236T>A" "" "pathogenic" ""
"0000087263" "1" "90" "12" "49445685" "49445685" "subst" "1.62472E-5" "01484" "KMT2D_000498" "g.49445685G>A" "" "" "" "1781C>T, Pro594Leu" "" "Germline" "no" "" "0" "" "" "g.49051902G>A" "" "pathogenic" ""
"0000087264" "1" "90" "12" "49426019" "49426019" "subst" "0" "01484" "KMT2D_000252" "g.49426019G>A" "" "" "" "12469C>T, Gln4157*" "" "Germline" "?" "" "0" "" "" "g.49032236G>A" "" "pathogenic" ""
"0000087265" "1" "90" "12" "49433003" "49433003" "subst" "0" "01484" "KMT2D_000356" "g.49433003A>G" "" "" "" "8366+2T>C, (?)" "" "Germline" "?" "" "0" "" "" "g.49039220A>G" "" "pathogenic" ""
"0000087266" "1" "90" "12" "49425896" "49425896" "subst" "0" "01484" "KMT2D_000250" "g.49425896G>A" "" "" "" "12592C>T, Arg4198*" "" "Germline" "?" "" "0" "" "" "g.49032113G>A" "" "pathogenic" ""
"0000087267" "1" "90" "12" "49426033" "49426046" "del" "0" "01484" "KMT2D_000253" "g.49426033_49426046del" "" "" "" "12442_12455del, Met4148Serfs*15" "" "Germline" "?" "" "0" "" "" "g.49032250_49032263del" "" "pathogenic" ""
"0000087268" "1" "90" "12" "49448309" "49448309" "subst" "0" "01484" "KMT2D_000532" "g.49448309A>G" "" "" "" "400+2T>C, (?)" "" "Germline" "?" "" "0" "" "" "g.49054526A>G" "" "pathogenic" ""
"0000087269" "1" "90" "12" "49425191" "49425191" "dup" "0" "01484" "KMT2D_000226" "g.49425191dup" "" "" "" "13297dupA, Arg4433Lysfs*54" "" "Germline" "yes" "" "0" "" "" "g.49031408dup" "" "pathogenic" ""
"0000087270" "1" "90" "12" "49416396" "49416396" "subst" "0" "01484" "KMT2D_000552" "g.49416396G>C" "" "" "" "16315C>G, Arg5439Gly" "" "Germline" "yes" "" "0" "" "" "g.49022613G>C" "" "pathogenic" ""
"0000087271" "1" "90" "12" "49420606" "49420606" "subst" "0" "01484" "KMT2D_000180" "g.49420606C>T" "" "" "" "15143G>A, Arg5048Cys" "" "Germline" "?" "" "0" "" "" "g.49026823C>T" "" "pathogenic" ""
"0000087272" "1" "90" "12" "49445505" "49445505" "dup" "0" "01484" "KMT2D_000495" "g.49445505dup" "" "" "" "1966dupC, Leu656ProfsX11" "" "Germline" "?" "" "0" "" "" "g.49051722dup" "" "pathogenic" ""
"0000087273" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "" "" "15536G>A, Arg5179His" "" "Germline" "?" "" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000087274" "1" "90" "12" "49447357" "49447357" "subst" "0" "01484" "KMT2D_000520" "g.49447357A>T" "" "" "" "741T>A, Cys247X" "" "Germline" "yes" "" "0" "" "" "g.49053574A>T" "" "pathogenic" ""
"0000087275" "1" "90" "12" "49441848" "49441849" "del" "0" "01484" "KMT2D_000062" "g.49441848_49441849del" "" "" "" "4135_4136delAT, Met1379Valfs*52" "" "Germline" "yes" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic" ""
"0000087276" "1" "90" "12" "49418394" "49418394" "subst" "0" "01484" "KMT2D_000132" "g.49418394C>T" "" "" "" "16019G>A, Arg5340Gln" "" "Germline" "yes" "" "0" "" "" "g.49024611C>T" "" "pathogenic" ""
"0000087277" "1" "90" "12" "49426544" "49426544" "subst" "0" "01484" "KMT2D_000271" "g.49426544G>A" "" "" "" "11944C>T, Arg3982X" "" "Germline" "yes" "" "0" "" "" "g.49032761G>A" "" "pathogenic" ""
"0000087278" "1" "90" "12" "49446104" "49446104" "del" "0" "01484" "KMT2D_000506" "g.49446104del" "" "" "" "1363delG, Glu455Asnfs*475" "" "Germline" "?" "" "0" "" "" "g.49052321del" "" "pathogenic" ""
"0000087279" "1" "90" "12" "49426589" "49426589" "subst" "0" "01484" "KMT2D_000273" "g.49426589G>A" "" "" "" "11899C>T, Gln3967X" "" "Germline" "yes" "" "0" "" "" "g.49032806G>A" "" "pathogenic" ""
"0000087280" "1" "90" "12" "49421039" "49421039" "subst" "0" "01484" "KMT2D_000201" "g.49421039G>A" "" "" "" "14710C>T, Arg4904X" "" "Germline" "?" "" "0" "" "" "g.49027256G>A" "" "pathogenic" ""
"0000087281" "1" "90" "12" "49434358" "49434358" "dup" "0" "01484" "KMT2D_000377" "g.49434358dup" "" "" "" "7199dupC, Pro2400ProfsX32" "" "Germline" "yes" "" "0" "" "" "g.49040575dup" "" "pathogenic" ""
"0000087282" "1" "90" "12" "49444046" "49444056" "del" "0" "01484" "KMT2D_000478" "g.49444046_49444056del" "" "" "" "3326_3336delCCCCAGCCCTG, Ala1109GlyfsX1" "" "Germline" "yes" "" "0" "" "" "g.49050263_49050273del" "" "pathogenic" ""
"0000087283" "1" "90" "12" "49416058" "49416058" "subst" "0" "01484" "KMT2D_000536" "g.49416058C>G" "" "" "" "16412+5G>C, (?)" "" "Germline" "?" "" "0" "" "" "g.49022275C>G" "" "pathogenic" ""
"0000087284" "1" "90" "12" "49415846" "49415846" "subst" "0" "01484" "KMT2D_000553" "g.49415846G>A" "" "" "" "16501C>T, Arg5501X" "" "Germline" "yes" "" "0" "" "" "g.49022063G>A" "" "pathogenic" ""
"0000087285" "1" "90" "12" "49421714" "49421714" "subst" "0" "01484" "KMT2D_000204" "g.49421714C>G" "" "" "" "14516-1G>C, (?)" "" "Germline" "yes" "" "0" "" "" "g.49027931C>G" "" "pathogenic" ""
"0000087286" "1" "90" "12" "49420804" "49420804" "subst" "0" "01484" "KMT2D_000191" "g.49420804C>T" "" "" "" "14945G>A, Trp4982X" "" "Germline" "yes" "" "0" "" "" "g.49027021C>T" "" "pathogenic" ""
"0000087287" "1" "90" "12" "49425545" "49425545" "subst" "0" "01484" "KMT2D_000238" "g.49425545G>A" "" "" "" "12943C>T, Gln4315X" "" "Germline" "yes" "" "0" "" "" "g.49031762G>A" "" "pathogenic" ""
"0000087288" "1" "90" "12" "49425447" "49425448" "del" "0" "01484" "KMT2D_000234" "g.49425447_49425448del" "" "" "" "13040_13041delAG, Gln4347ArgfsX23" "" "Germline" "yes" "" "0" "" "" "g.49031664_49031665del" "" "pathogenic" ""
"0000087289" "1" "90" "12" "49425533" "49425533" "subst" "0" "01484" "KMT2D_000043" "g.49425533T>A" "" "" "" "12955A>T, Arg4319X" "" "Germline" "?" "" "0" "" "" "g.49031750T>A" "" "pathogenic" ""
"0000087290" "1" "90" "12" "49420803" "49420803" "subst" "0" "01484" "KMT2D_000190" "g.49420803C>T" "" "" "" "14946G>A, Trp4982X" "" "Germline" "?" "" "0" "" "" "g.49027020C>T" "" "pathogenic" ""
"0000087291" "1" "90" "12" "49415846" "49415846" "subst" "0" "01484" "KMT2D_000553" "g.49415846G>A" "" "" "" "16501C>T, Arg5501X" "" "Germline" "yes" "" "0" "" "" "g.49022063G>A" "" "pathogenic" ""
"0000087292" "1" "90" "12" "49426076" "49426077" "del" "0" "01484" "KMT2D_000256" "g.49426076_49426077del" "" "" "" "12413_12414delCT, Ser4138CysfsX28" "" "Germline" "yes" "" "0" "" "" "g.49032293_49032294del" "" "pathogenic" ""
"0000087293" "1" "90" "12" "49416133" "49416133" "subst" "0" "01484" "KMT2D_000543" "g.49416133G>A" "" "" "" "16342C>T, Arg5448X" "" "Germline" "yes" "" "0" "" "" "g.49022350G>A" "" "pathogenic" ""
"0000087294" "1" "90" "12" "49421029" "49421029" "subst" "0" "01484" "KMT2D_000200" "g.49421029G>T" "" "" "" "14720C>A, Ser4907X" "" "Germline" "yes" "" "0" "" "" "g.49027246G>T" "" "pathogenic" ""
"0000087295" "1" "90" "12" "49433650" "49433650" "subst" "0" "01484" "KMT2D_000018" "g.49433650G>A" "" "" "" "7903C>T, Arg2635X" "" "Germline" "yes" "" "0" "" "" "g.49039867G>A" "" "pathogenic" ""
"0000087296" "1" "90" "12" "49420202" "49420203" "ins" "0" "01484" "KMT2D_000152" "g.49420202_49420203insC" "" "" "" "15546_15547insG, Gly5182GlyfsX16" "" "Germline" "yes" "" "0" "" "" "g.49026419_49026420insC" "" "pathogenic" ""
"0000087297" "1" "90" "12" "49431976" "49431976" "del" "0" "01484" "KMT2D_000335" "g.49431976del" "" "" "" "9164delC, Pro3055LeufsX16" "" "Germline" "yes" "" "0" "" "" "g.49038193del" "" "pathogenic" ""
"0000087298" "1" "90" "12" "49420543" "49420543" "subst" "0" "01484" "KMT2D_000173" "g.49420543A>T" "" "" "" "15206T>A, Val5069Glu" "" "Germline" "yes" "" "0" "" "" "g.49026760A>T" "" "pathogenic" ""
"0000087299" "1" "90" "12" "49423204" "49423204" "subst" "0" "01484" "KMT2D_000210" "g.49423204G>C" "" "" "" "14055C>G, His4685Gln" "" "Germline" "yes" "" "0" "" "" "g.49029421G>C" "" "pathogenic" ""
"0000087300" "1" "90" "12" "49441770" "49441770" "subst" "0" "01484" "KMT2D_000452" "g.49441770T>A" "" "" "" "4214A>T, His1405Leu" "" "Germline" "yes" "" "0" "" "" "g.49047987T>A" "" "pathogenic" ""
"0000087301" "1" "90" "12" "49448536" "49448536" "subst" "0" "01484" "KMT2D_000533" "g.49448536T>C" "" "" "" "177-2A>G, (?)" "" "Germline" "?" "" "0" "" "" "g.49054753T>C" "" "pathogenic" ""
"0000087302" "1" "90" "12" "49438691" "49438691" "del" "0" "01484" "KMT2D_000427" "g.49438691del" "" "" "" "4799delT, Leu1600ArgfsX4" "" "Germline" "yes" "" "0" "" "" "g.49044908del" "" "pathogenic" ""
"0000087303" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "" "" "15142C>T, Arg5048Cys" "" "Germline" "yes" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087304" "1" "90" "12" "49438082" "49438082" "del" "0" "01484" "KMT2D_000422" "g.49438082del" "" "" "" "5090delG, Gly1697ValfsX25" "" "Germline" "yes" "" "0" "" "" "g.49044299del" "" "pathogenic" ""
"0000087305" "1" "90" "12" "49434792" "49434792" "subst" "0" "01484" "KMT2D_000382" "g.49434792T>C" "" "" "" "6761A>G, Asn2254Ser" "" "Germline" "no" "" "0" "" "" "g.49041009T>C" "" "pathogenic" ""
"0000087306" "1" "90" "12" "49434565" "49434566" "ins" "0" "01484" "KMT2D_000379" "g.49434565_49434566insA" "" "" "" "6987_6988insT, Pro2330SerfsX46" "" "Germline" "yes" "" "0" "" "" "g.49040782_49040783insA" "" "pathogenic" ""
"0000087307" "1" "90" "12" "49426372" "49426373" "del" "0" "01484" "KMT2D_000267" "g.49426372_49426373del" "" "" "" "12116_12117delAG, Glu4039GlyfsX16" "" "Germline" "?" "" "0" "" "" "g.49032589_49032590del" "" "pathogenic" ""
"0000087308" "1" "90" "12" "49425800" "49425800" "subst" "0" "01484" "KMT2D_000246" "g.49425800G>A" "" "" "" "12688C>T, Gln4230X" "" "Germline" "?" "" "0" "" "" "g.49032017G>A" "" "pathogenic" ""
"0000087309" "1" "90" "12" "49435228" "49435228" "subst" "0" "01484" "KMT2D_000393" "g.49435228G>A" "" "" "" "6325C>T, Gln2109X" "" "Germline" "?" "" "0" "" "" "g.49041445G>A" "" "pathogenic" ""
"0000087310" "1" "90" "12" "49441813" "49441813" "subst" "0" "01484" "KMT2D_000063" "g.49441813C>T" "" "" "" "4171G>A, Glu1391Lys" "" "Germline" "yes" "" "0" "" "" "g.49048030C>T" "" "pathogenic" ""
"0000087311" "1" "90" "12" "49420412" "49420412" "dup" "0" "01484" "KMT2D_000166" "g.49420412dup" "" "" "" "15337dupT, Tyr5113LeufsX24" "" "Germline" "?" "" "0" "" "" "g.49026629dup" "" "pathogenic" ""
"0000087312" "1" "90" "12" "49426760" "49426760" "subst" "0" "01484" "KMT2D_000288" "g.49426760G>A" "" "" "" "11728C>T, Gln3910X" "" "Germline" "?" "" "0" "" "" "g.49032977G>A" "" "pathogenic" ""
"0000087313" "1" "90" "12" "49425038" "49425038" "subst" "0" "01484" "KMT2D_000223" "g.49425038G>A" "" "" "" "13450C>T, Arg4484X" "" "Germline" "yes" "" "0" "" "" "g.49031255G>A" "" "pathogenic" ""
"0000087314" "1" "90" "12" "49420865" "49420875" "del" "0" "01484" "KMT2D_000192" "g.49420865_49420875del" "" "" "" "14874_14884del11, Ser4958SerfsX11" "" "Germline" "yes" "" "0" "" "" "g.49027082_49027092del" "" "pathogenic" ""
"0000087315" "1" "90" "12" "49424818" "49424818" "subst" "0" "01484" "KMT2D_000222" "g.49424818T>G" "" "" "" "13531-2A>C, (?)" "" "Germline" "yes" "" "0" "" "" "g.49031035T>G" "" "pathogenic" ""
"0000087316" "1" "90" "12" "49425203" "49425203" "subst" "0" "01484" "KMT2D_000227" "g.49425203G>A" "" "" "" "13285C>T, Gln4429X" "" "Germline" "?" "" "0" "" "" "g.49031420G>A" "" "pathogenic" ""
"0000087317" "1" "90" "12" "49423020" "49423020" "subst" "0" "01484" "KMT2D_000209" "g.49423020C>T" "" "" "" "14076-1G>A, (?)" "" "Germline" "yes" "" "0" "" "" "g.49029237C>T" "" "pathogenic" ""
"0000087318" "1" "90" "12" "49422906" "49422906" "subst" "0" "01484" "KMT2D_000208" "g.49422906C>T" "" "" "" "14189G>A, Trp4730*" "" "Germline" "yes" "" "0" "" "" "g.49029123C>T" "" "pathogenic" ""
"0000087319" "1" "90" "12" "49431994" "49431994" "subst" "0" "01484" "KMT2D_000336" "g.49431994G>C" "" "" "" "9145C>G, Leu3049Val" "" "Germline" "yes" "" "0" "" "" "g.49038211G>C" "" "pathogenic" ""
"0000087320" "1" "90" "12" "49444193" "49444193" "subst" "0" "01484" "KMT2D_000481" "g.49444193T>A" "" "" "" "3178A>T, Lys1060X" "" "Germline" "?" "" "0" "" "" "g.49050410T>A" "" "pathogenic" ""
"0000087321" "1" "90" "12" "49443470" "49443470" "dup" "0" "01484" "KMT2D_000464" "g.49443470dup" "" "" "" "3903dupA, Gln1302Thrfs*23" "" "Germline" "yes" "" "0" "" "" "g.49049687dup" "" "pathogenic" ""
"0000087322" "1" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01484" "KMT2D_000181" "g.49420607G>A" "" "" "" "15142C>T, Arg5048Cys" "" "Germline" "yes" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000087323" "1" "90" "12" "49435137" "49435137" "subst" "9.29935E-5" "01484" "KMT2D_000391" "g.49435137G>A" "" "" "" "6416C>T, Ala2139Val" "" "Germline" "no" "" "0" "" "" "g.49041354G>A" "" "pathogenic" ""
"0000087324" "1" "90" "12" "49444668" "49444668" "subst" "0" "01484" "KMT2D_000486" "g.49444668C>G" "" "" "" "2797+1G>C, (?)" "" "Germline" "yes" "" "0" "" "" "g.49050885C>G" "" "pathogenic" ""
"0000087325" "1" "90" "12" "49425488" "49425512" "dup" "0" "01484" "KMT2D_000235" "g.49425488_49425512dup" "" "" "" "12986_13010dup25, Pro4337ProfsX5" "" "Germline" "yes" "" "0" "" "" "g.49031705_49031729dup" "" "pathogenic" ""
"0000087326" "1" "90" "12" "49433827" "49433827" "subst" "0" "01484" "KMT2D_000367" "g.49433827G>A" "" "" "" "7726C>T, Gln2576X" "" "Germline" "?" "" "0" "" "" "g.49040044G>A" "" "pathogenic" ""
"0000087327" "1" "90" "12" "49421039" "49421039" "subst" "0" "01484" "KMT2D_000201" "g.49421039G>A" "" "" "" "14710C>T, Arg4904X" "" "Germline" "yes" "" "0" "" "" "g.49027256G>A" "" "pathogenic" ""
"0000087328" "1" "90" "12" "49426843" "49426843" "subst" "0" "01484" "KMT2D_000293" "g.49426843G>C" "" "" "" "11645C>G, Ser3882X" "" "Germline" "yes" "" "0" "" "" "g.49033060G>C" "" "pathogenic" ""
"0000087329" "1" "90" "12" "49426964" "49426964" "subst" "0" "01484" "KMT2D_000296" "g.49426964G>A" "" "" "" "11524C>T, Gln3842X" "" "Germline" "yes" "" "0" "" "" "g.49033181G>A" "" "pathogenic" ""
"0000087330" "1" "90" "12" "49433247" "49433247" "subst" "0" "01484" "KMT2D_000360" "g.49433247G>A" "" "" "" "8200C>T, Arg2734*" "" "Germline" "yes" "" "0" "" "" "g.49039464G>A" "" "pathogenic" ""
"0000087331" "1" "90" "12" "49432729" "49432729" "del" "0" "01484" "KMT2D_000354" "g.49432729del" "" "" "" "8410delT, Tyr2804IlefsX47" "" "Germline" "yes" "" "0" "" "" "g.49038946del" "" "pathogenic" ""
"0000087332" "1" "90" "12" "49420670" "49420670" "subst" "0" "01484" "KMT2D_000022" "g.49420670G>A" "" "" "" "15079C>T, Arg5027X" "" "Germline" "yes" "" "0" "" "" "g.49026887G>A" "" "pathogenic" ""
"0000087333" "1" "90" "12" "49437202" "49437202" "subst" "0.000999033" "01484" "KMT2D_000414" "g.49437202C>A" "" "" "" "5477G>T, Gly1826Val" "" "Germline" "no" "" "0" "" "" "g.49043419C>A" "" "pathogenic" ""
"0000087334" "1" "90" "12" "49440543" "49440543" "subst" "0" "01484" "KMT2D_000447" "g.49440543G>A" "" "" "" "4267C>T, Arg1423Cys" "" "Germline" "?" "" "0" "" "" "g.49046760G>A" "" "pathogenic" ""
"0000087335" "1" "90" "12" "49440543" "49440543" "subst" "0" "01484" "KMT2D_000447" "g.49440543G>A" "" "" "" "4267C>T, Arg1423Cys" "" "Germline" "yes" "" "0" "" "" "g.49046760G>A" "" "pathogenic" ""
"0000087336" "1" "90" "12" "49440543" "49440543" "subst" "0" "01484" "KMT2D_000447" "g.49440543G>A" "" "" "" "4267C>T, Arg1423Cys" "" "Germline" "yes" "" "0" "" "" "g.49046760G>A" "" "pathogenic" ""
"0000087337" "1" "90" "12" "49440543" "49440543" "subst" "0" "01484" "KMT2D_000448" "g.49440543G>C" "" "" "" "4267C>G, Arg1423Gly" "" "Germline" "?" "" "0" "" "" "g.49046760G>C" "" "pathogenic" ""
"0000087338" "1" "90" "12" "49427219" "49427219" "subst" "0" "01484" "KMT2D_000304" "g.49427219G>A" "" "" "" "11269C>T, Gln3757X" "" "Germline" "yes" "" "0" "" "" "g.49033436G>A" "" "pathogenic" ""
"0000087339" "1" "90" "12" "49444552" "49444552" "subst" "0" "01484" "KMT2D_000485" "g.49444552G>C" "" "" "" "2819C>G, Ser940X" "" "Germline" "?" "" "0" "" "" "g.49050769G>C" "" "pathogenic" ""
"0000087340" "1" "90" "12" "49415865" "49415867" "del" "0" "01484" "KMT2D_000542" "g.49415865_49415867del" "" "" "" "16489_16491delATC, Ile5497del" "" "Germline" "?" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic" ""
"0000087341" "1" "90" "12" "49427265" "49427267" "dup" "0" "01484" "KMT2D_000305" "g.49427265_49427267dup" "" "" "" "11223_11225dup, ins3741Gln" "" "Germline" "?" "" "0" "" "" "g.49033482_49033484dup" "" "pathogenic" ""
"0000087342" "1" "90" "12" "49424158" "49424158" "del" "0" "01484" "KMT2D_000214" "g.49424158del" "" "" "" "13904delA, Gln4635ArgfsX4" "" "Germline" "yes" "" "0" "" "" "g.49030375del" "" "pathogenic" ""
"0000087343" "1" "90" "12" "49446465" "49446466" "ins" "0" "01484" "KMT2D_000512" "g.49446465_49446466insTGGG" "" "" "" "1142_1143insACCC, Pro381HisfsX3" "" "Germline" "yes" "" "0" "" "" "g.49052682_49052683insTGGG" "" "pathogenic" ""
"0000087344" "1" "90" "12" "49432430" "49432430" "dup" "0" "01484" "KMT2D_000346" "g.49432430dup" "" "" "" "8709dupA, Pro2904ThrfsX8" "" "Germline" "?" "" "0" "" "" "g.49038647dup" "" "pathogenic" ""
"0000087345" "1" "90" "12" "49425656" "49425656" "del" "0" "01484" "KMT2D_000239" "g.49425656del" "" "" "" "12835delG, (?)" "" "Germline" "?" "" "0" "" "" "g.49031873del" "" "pathogenic" ""
"0000087346" "1" "90" "12" "49420670" "49420670" "subst" "0" "01484" "KMT2D_000022" "g.49420670G>A" "" "" "" "15079C>T, Arg5027X" "" "Germline" "?" "" "0" "" "" "g.49026887G>A" "" "pathogenic" ""
"0000087347" "1" "90" "12" "49425045" "49425045" "del" "0" "01484" "KMT2D_000224" "g.49425045del" "" "" "" "13446delG, Gly4482GlyfsX54" "" "Germline" "?" "" "0" "" "" "g.49031262del" "" "pathogenic" ""
"0000087348" "1" "90" "12" "49420592" "49420597" "del" "0" "01484" "KMT2D_000179" "g.49420592_49420597del" "" "" "" "15158_15163delACCTGG, Leu5054_Asp5055del" "" "Germline" "?" "" "0" "" "" "g.49026809_49026814del" "" "pathogenic" ""
"0000087349" "1" "90" "12" "49424118" "49424118" "del" "0" "01484" "KMT2D_000212" "g.49424118del" "" "" "" "13948delG, Glu4650SerfsX15" "" "Germline" "?" "" "0" "" "" "g.49030335del" "" "pathogenic" ""
"0000087350" "1" "90" "12" "49435258" "49435258" "subst" "0" "01484" "KMT2D_000395" "g.49435258G>A" "" "" "" "6295C>T, Arg2099X" "" "Germline" "?" "" "0" "" "" "g.49041475G>A" "" "pathogenic" ""
"0000087351" "1" "90" "12" "49440451" "49440451" "subst" "0" "01484" "KMT2D_000441" "g.49440451G>T" "" "" "" "4359C>A, His1453Gln" "" "Germline" "?" "" "0" "" "" "g.49046668G>T" "" "pathogenic" ""
"0000087352" "1" "90" "12" "49435009" "49435009" "subst" "0" "01484" "KMT2D_000390" "g.49435009C>T" "" "" "" "6544G>A, Ala2182Thr" "" "Germline" "?" "" "0" "" "" "g.49041226C>T" "" "pathogenic" ""
"0000087353" "1" "90" "12" "49434274" "49434274" "del" "0" "01484" "KMT2D_000374" "g.49434274del" "" "" "" "7282delC, Arg2428GlyfsX57" "" "Germline" "?" "" "0" "" "" "g.49040491del" "" "pathogenic" ""
"0000087354" "1" "90" "12" "49432240" "49432240" "dup" "0" "01484" "KMT2D_000339" "g.49432240dup" "" "" "" "8903dupC, Pro2968ProfsX4" "" "Germline" "?" "" "0" "" "" "g.49038457dup" "" "pathogenic" ""
"0000087355" "1" "90" "12" "49420606" "49420606" "subst" "0" "01484" "KMT2D_000180" "g.49420606C>T" "" "" "" "15143G>A, Arg5048Cys" "" "Germline" "?" "" "0" "" "" "g.49026823C>T" "" "pathogenic" ""
"0000087356" "1" "90" "12" "49425896" "49425896" "subst" "0" "01484" "KMT2D_000250" "g.49425896G>A" "" "" "" "12592C>T, Arg4198X" "" "Germline" "?" "" "0" "" "" "g.49032113G>A" "" "pathogenic" ""
"0000087357" "1" "90" "12" "49415865" "49415867" "del" "0" "01484" "KMT2D_000542" "g.49415865_49415867del" "" "" "" "16489_16491delATC, Ile5497del" "" "Germline" "?" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic" ""
"0000087358" "1" "90" "12" "49443702" "49443702" "dup" "0" "01484" "KMT2D_000468" "g.49443702dup" "" "" "" "3669dupA, Glu1224ArgfsX25" "" "Germline" "yes" "" "0" "" "" "g.49049919dup" "" "pathogenic" ""
"0000087359" "1" "90" "12" "49420209" "49420209" "dup" "0" "01484" "KMT2D_000153" "g.49420209dup" "" "" "" "15545dupG, Gly5182GlyfsX16" "" "Germline" "?" "" "0" "" "" "g.49026426dup" "" "pathogenic" ""
"0000087360" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000154" "g.49420213C>T" "" "" "" "15536G>A, Arg5179His" "" "Germline" "yes" "" "0" "" "" "g.49026430C>T" "" "pathogenic" ""
"0000087361" "1" "90" "12" "49445889" "49445890" "del" "0" "01484" "KMT2D_000501" "g.49445889_49445890del" "" "" "" "1576_1577delTC, Ser526ThrfsX7" "" "Germline" "?" "" "0" "" "" "g.49052106_49052107del" "" "pathogenic" ""
"0000087362" "1" "90" "12" "49420352" "49420352" "subst" "0" "01484" "KMT2D_000161" "g.49420352A>G" "" "" "" "15397T>C, Cys5133Arg" "" "Germline" "?" "" "0" "" "" "g.49026569A>G" "" "pathogenic" ""
"0000087363" "1" "90" "12" "49427678" "49427695" "dup" "0" "01484" "KMT2D_000312" "g.49427678_49427695dup" "" "" "" "10803_10820dup18, Gln3601_Gln3606dup" "" "Germline" "no" "" "0" "" "" "g.49033895_49033912dup" "" "pathogenic" ""
"0000087364" "1" "90" "12" "49425821" "49425821" "subst" "0" "01484" "KMT2D_000247" "g.49425821G>A" "" "" "" "12667C>T, Gln4223X" "" "Germline" "?" "" "0" "" "" "g.49032038G>A" "" "pathogenic" ""
"0000087365" "1" "90" "12" "49446418" "49446418" "subst" "0.000146592" "01484" "KMT2D_000511" "g.49446418G>C" "" "" "" "1187C>G, Pro396Arg" "" "Germline" "?" "" "0" "" "" "g.49052635G>C" "" "pathogenic" ""
"0000087366" "1" "90" "12" "49420288" "49420288" "subst" "0" "01484" "KMT2D_000158" "g.49420288C>T" "" "" "" "15461G>A, Arg5154Gln" "" "Germline" "yes" "" "0" "" "" "g.49026505C>T" "" "pathogenic" ""
"0000087367" "1" "90" "12" "49426697" "49426697" "subst" "0" "01484" "KMT2D_000282" "g.49426697G>A" "" "" "" "11791C>T, Leu3931Phe" "" "Germline" "?" "" "0" "" "" "g.49032914G>A" "" "pathogenic" ""
"0000087368" "1" "90" "12" "49426187" "49426187" "subst" "0" "01484" "KMT2D_000258" "g.49426187G>A" "" "" "" "12301C>T, Gln4101*" "" "Germline" "yes" "" "0" "" "" "g.49032404G>A" "" "pathogenic" ""
"0000087369" "1" "90" "12" "49448693" "49448693" "subst" "0" "01484" "KMT2D_000534" "g.49448693G>A" "" "" "" "166C>T, Gln56*" "" "Germline" "yes" "" "0" "" "" "g.49054910G>A" "" "pathogenic" ""
"0000087370" "1" "90" "12" "49448693" "49448693" "subst" "0" "01484" "KMT2D_000534" "g.49448693G>A" "" "" "" "166C>T, Gln56*" "" "Germline" "?" "" "0" "" "" "g.49054910G>A" "" "pathogenic" ""
"0000087371" "1" "90" "12" "49427285" "49427285" "subst" "0" "01484" "KMT2D_000306" "g.49427285G>A" "" "" "" "11203C>T, Gln3735*" "" "Germline" "?" "" "0" "" "" "g.49033502G>A" "" "pathogenic" ""
"0000087372" "1" "90" "12" "49424741" "49424741" "subst" "0" "01484" "KMT2D_000219" "g.49424741G>A" "" "" "" "13606C>T, Arg4536*" "" "Germline" "?" "" "0" "" "" "g.49030958G>A" "" "pathogenic" ""
"0000087373" "1" "90" "12" "49435258" "49435258" "subst" "0" "01484" "KMT2D_000395" "g.49435258G>A" "" "" "" "6295C>T, Arg2099*" "" "Germline" "?" "" "0" "" "" "g.49041475G>A" "" "pathogenic" ""
"0000087374" "1" "90" "12" "49425789" "49425790" "del" "0" "01484" "KMT2D_000244" "g.49425789_49425790del" "" "" "" "12700_12701delAG, Gln4235Glyfs*98" "" "Germline" "?" "" "0" "" "" "g.49032006_49032007del" "" "pathogenic" ""
"0000087375" "1" "90" "12" "49436542" "49436542" "subst" "0" "01484" "KMT2D_000409" "g.49436542G>A" "" "" "" "5764C>T, Gln1922*" "" "Germline" "yes" "" "0" "" "" "g.49042759G>A" "" "pathogenic" ""
"0000087376" "1" "90" "12" "49426811" "49426811" "del" "0" "01484" "KMT2D_000291" "g.49426811del" "" "" "" "11679delC, Met3894Trpfs*85" "" "Germline" "?" "" "0" "" "" "g.49033028del" "" "pathogenic" ""
"0000087377" "1" "90" "12" "49424448" "49424448" "del" "0" "01484" "KMT2D_000217" "g.49424448del" "" "" "" "13780delG, Ala4594Profs*23" "" "Germline" "yes" "" "0" "" "" "g.49030665del" "" "pathogenic" ""
"0000087378" "1" "90" "12" "49420876" "49420876" "subst" "0" "01484" "KMT2D_000194" "g.49420876G>C" "" "" "" "14873C>G, Ser4958*" "" "Germline" "?" "" "0" "" "" "g.49027093G>C" "" "pathogenic" ""
"0000087379" "1" "90" "12" "49420288" "49420288" "subst" "0" "01484" "KMT2D_000158" "g.49420288C>T" "" "" "" "15461G>A, Arg5154Gln" "" "Germline" "?" "" "0" "" "" "g.49026505C>T" "" "pathogenic" ""
"0000087380" "1" "90" "12" "49432651" "49432651" "subst" "0" "01484" "KMT2D_000351" "g.49432651G>A" "" "" "" "8488C>T, Arg2830*" "" "Germline" "?" "" "0" "" "" "g.49038868G>A" "" "pathogenic" ""
"0000087381" "1" "90" "12" "49425884" "49425888" "dup" "0" "01484" "KMT2D_000248" "g.49425884_49425888dup" "" "" "" "12600_12604dup , Gln4202Argfs*15" "" "Germline" "?" "" "0" "" "" "g.49032101_49032105dup" "" "pathogenic" ""
"0000087382" "1" "90" "12" "49434591" "49434591" "subst" "0" "01484" "KMT2D_000381" "g.49434591A>C" "" "" "" "6962T>G, Leu2321*" "" "Germline" "?" "" "0" "" "" "g.49040808A>C" "" "pathogenic" ""
"0000087383" "1" "90" "12" "49418361" "49418361" "subst" "0" "01484" "KMT2D_000130" "g.49418361C>T" "" "" "" "16052G>A, Arg5351Gln" "" "Germline" "?" "" "0" "" "" "g.49024578C>T" "" "pathogenic" ""
"0000087384" "1" "90" "12" "49426511" "49426511" "subst" "0" "01484" "KMT2D_000269" "g.49426511G>A" "" "" "" "11977C>T, Gln3993*" "" "Germline" "?" "" "0" "" "" "g.49032728G>A" "" "pathogenic" ""
"0000087385" "1" "90" "12" "49420573" "49420573" "subst" "0" "01484" "KMT2D_000177" "g.49420573T>C" "" "" "" "15176A>G, His5059Arg" "" "Germline" "?" "" "0" "" "" "g.49026790T>C" "" "pathogenic" ""
"0000087386" "1" "90" "12" "49420946" "49420946" "subst" "0" "01484" "KMT2D_000197" "g.49420946C>A" "" "" "" "14803G>T, Glu4935*" "" "Germline" "?" "" "0" "" "" "g.49027163C>A" "" "pathogenic" ""
"0000087387" "1" "90" "12" "49419968" "49419968" "subst" "0" "01484" "KMT2D_000142" "g.49419968G>A" "" "" "" "15781C>T, Gln5261*" "" "Germline" "yes" "" "0" "" "" "g.49026185G>A" "" "pathogenic" ""
"0000087388" "1" "90" "12" "49432365" "49432365" "subst" "0.00167696" "01484" "KMT2D_000341" "g.49432365G>A" "" "" "" "8774C>T, Ala2925Val" "" "Germline" "no" "" "0" "" "" "g.49038582G>A" "" "pathogenic" ""
"0000087389" "1" "90" "12" "49416596" "49416596" "dup" "0" "01484" "KMT2D_000126" "g.49416596dup" "" "" "" "16116dupC, Asn5373Glnfs*86" "" "Germline" "?" "" "0" "" "" "g.49022813dup" "" "pathogenic" ""
"0000087390" "1" "90" "12" "49420109" "49420109" "subst" "0" "01484" "KMT2D_000146" "g.49420109G>A" "" "" "" "15640C>T, Arg5214Cys" "" "Germline" "yes" "" "0" "" "" "g.49026326G>A" "" "pathogenic" ""
"0000087391" "1" "90" "12" "49420213" "49420213" "subst" "0" "01484" "KMT2D_000155" "g.49420213C>A" "" "" "" "15536G>T, Arg5179Leu" "" "Germline" "?" "" "0" "" "" "g.49026430C>A" "" "pathogenic" ""
"0000087392" "1" "90" "12" "49442480" "49442480" "subst" "0" "01484" "KMT2D_000461" "g.49442480C>A" "" "" "" "4093G>T, Val1365Phe" "" "Germline" "?" "" "0" "" "" "g.49048697C>A" "" "pathogenic" ""
"0000087393" "1" "90" "12" "49434931" "49434931" "subst" "0" "01484" "KMT2D_000386" "g.49434931G>A" "" "" "" "6622C>T, Gln2208*" "" "Germline" "?" "" "0" "" "" "g.49041148G>A" "" "pathogenic" ""
"0000087394" "1" "90" "12" "49425038" "49425038" "subst" "0" "01484" "KMT2D_000223" "g.49425038G>A" "" "" "" "13450C>T, Arg4484*" "" "Germline" "yes" "" "0" "" "" "g.49031255G>A" "" "pathogenic" ""
"0000087395" "1" "90" "12" "49421792" "49421792" "del" "0" "01484" "KMT2D_000205" "g.49421792del" "" "" "" "14515+1delG, (?)" "" "Germline" "?" "" "0" "" "" "g.49028009del" "" "pathogenic" ""
"0000087396" "1" "90" "12" "49426718" "49426718" "dup" "0" "01484" "KMT2D_000283" "g.49426718dup" "" "" "" "11770dupC, Gln3924Profs*88" "" "Germline" "?" "" "0" "" "" "g.49032935dup" "" "pathogenic" ""
"0000087397" "1" "90" "12" "49436875" "49436878" "del" "0" "01484" "KMT2D_000411" "g.49436875_49436878del" "" "" "" "5627_5630delACAG, Asp1876Glyfs*38" "" "Germline" "?" "" "0" "" "" "g.49043092_49043095del" "" "pathogenic" ""
"0000087398" "1" "90" "12" "49443749" "49443749" "subst" "0" "01484" "KMT2D_000470" "g.49443749T>G" "" "" "" "3622A>C, Ile1208Leu" "" "Germline" "?" "" "0" "" "" "g.49049966T>G" "" "pathogenic" ""
"0000087399" "1" "90" "12" "49443831" "49443831" "del" "0" "01484" "KMT2D_000473" "g.49443831del" "" "" "" "3540delA, Pro1181Hisfs*31" "" "Germline" "?" "" "0" "" "" "g.49050048del" "" "pathogenic" ""
"0000087400" "1" "50" "12" "49420649" "49420649" "subst" "0" "01484" "KMT2D_000184" "g.49420649A>C" "" "{PMID:Micale 2011:21658225}" "" "" "" "Germline" "?" "" "0" "" "" "g.49026866A>C" "" "VUS" ""
"0000087401" "0" "50" "12" "49420109" "49420109" "subst" "0" "01484" "KMT2D_000146" "g.49420109G>A" "" "{PMID:Makrythanasis 2013:23320472}" "" "" "" "Germline" "?" "" "0" "" "" "g.49026326G>A" "" "VUS" ""
"0000087402" "0" "50" "12" "49420187" "49420187" "subst" "1.62611E-5" "01484" "KMT2D_000150" "g.49420187T>C" "" "{PMID:Makrythanasis 2013:23320472}" "" "" "" "Germline" "?" "" "0" "" "" "g.49026404T>C" "" "VUS" ""
"0000087403" "0" "90" "12" "49425524" "49425524" "subst" "0" "01484" "KMT2D_000237" "g.49425524G>A" "" "{PMID:Subbarayan 2014:24311525}" "" "" "" "Germline" "?" "" "0" "" "" "g.49031741G>A" "" "pathogenic" ""
"0000087404" "1" "50" "12" "49440558" "49440558" "subst" "0" "01484" "KMT2D_000449" "g.49440558G>T" "" "{PMID:Micale 2011:21658225}" "" "" "" "Germline" "?" "" "0" "" "" "g.49046775G>T" "" "VUS" ""
"0000087405" "0" "50" "12" "49431038" "49431038" "subst" "4.06646E-6" "01484" "KMT2D_000321" "g.49431038C>A" "" "{PMID:Zarate 2012:23239960}" "" "" "" "Germline" "?" "" "0" "" "" "g.49037255C>A" "" "VUS" ""
"0000117178" "1" "90" "12" "49448693" "49448693" "subst" "0" "01671" "KMT2D_000534" "g.49448693G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "inherited from affected parent" "Germline" "yes" "" "0" "" "" "g.49054910G>A" "" "pathogenic (dominant)" ""
"0000117179" "0" "90" "12" "49448693" "49448693" "subst" "0" "01671" "KMT2D_000534" "g.49448693G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49054910G>A" "" "pathogenic (dominant)" ""
"0000117180" "0" "90" "12" "49447357" "49447357" "subst" "0" "01671" "KMT2D_000520" "g.49447357A>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49053574A>T" "" "pathogenic (dominant)" ""
"0000117181" "0" "90" "12" "49445068" "49445068" "subst" "0" "01671" "KMT2D_000570" "g.49445068G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49051285G>A" "" "pathogenic (dominant)" ""
"0000117182" "0" "90" "12" "49444552" "49444552" "subst" "0" "01671" "KMT2D_000485" "g.49444552G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49050769G>C" "" "pathogenic (dominant)" ""
"0000117183" "0" "90" "12" "49444193" "49444193" "subst" "0" "01671" "KMT2D_000481" "g.49444193T>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49050410T>A" "" "pathogenic (dominant)" ""
"0000117184" "0" "90" "12" "49440105" "49440105" "subst" "0" "01671" "KMT2D_000566" "g.49440105G>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49046322G>T" "" "pathogenic (dominant)" ""
"0000117185" "0" "90" "12" "49436599" "49436599" "subst" "0" "01671" "KMT2D_000410" "g.49436599G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49042816G>A" "" "pathogenic (dominant)" ""
"0000117186" "0" "90" "12" "49436542" "49436542" "subst" "0" "01671" "KMT2D_000409" "g.49436542G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49042759G>A" "" "pathogenic (dominant)" ""
"0000117187" "0" "90" "12" "49434931" "49434931" "subst" "0" "01671" "KMT2D_000386" "g.49434931G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041148G>A" "" "pathogenic (dominant)" ""
"0000117188" "0" "90" "12" "49435258" "49435258" "subst" "0" "01671" "KMT2D_000395" "g.49435258G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041475G>A" "" "pathogenic (dominant)" ""
"0000117189" "0" "90" "12" "49435258" "49435258" "subst" "0" "01671" "KMT2D_000395" "g.49435258G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041475G>A" "" "pathogenic (dominant)" ""
"0000117190" "0" "90" "12" "49435258" "49435258" "subst" "0" "01671" "KMT2D_000395" "g.49435258G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041475G>A" "" "pathogenic (dominant)" ""
"0000117191" "0" "90" "12" "49435258" "49435258" "subst" "0" "01671" "KMT2D_000395" "g.49435258G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041475G>A" "" "pathogenic (dominant)" ""
"0000117192" "0" "90" "12" "49435228" "49435228" "subst" "0" "01671" "KMT2D_000393" "g.49435228G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041445G>A" "" "pathogenic (dominant)" ""
"0000117193" "0" "90" "12" "49434591" "49434591" "subst" "0" "01671" "KMT2D_000381" "g.49434591A>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49040808A>C" "" "pathogenic (dominant)" ""
"0000117194" "0" "90" "12" "49434142" "49434142" "subst" "0" "01671" "KMT2D_000578" "g.49434142G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49040359G>A" "" "pathogenic (dominant)" ""
"0000117195" "0" "90" "12" "49433827" "49433827" "subst" "0" "01671" "KMT2D_000367" "g.49433827G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49040044G>A" "" "pathogenic (dominant)" ""
"0000117196" "0" "90" "12" "49433650" "49433650" "subst" "0" "01671" "KMT2D_000018" "g.49433650G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49039867G>A" "" "pathogenic (dominant)" ""
"0000117197" "0" "90" "12" "49433650" "49433650" "subst" "0" "01671" "KMT2D_000018" "g.49433650G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49039867G>A" "" "pathogenic (dominant)" ""
"0000117198" "0" "90" "12" "49433247" "49433247" "subst" "0" "01671" "KMT2D_000360" "g.49433247G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49039464G>A" "" "pathogenic (dominant)" ""
"0000117199" "0" "90" "12" "49433247" "49433247" "subst" "0" "01671" "KMT2D_000360" "g.49433247G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49039464G>A" "" "pathogenic (dominant)" ""
"0000117200" "0" "90" "12" "49432651" "49432651" "subst" "0" "01671" "KMT2D_000351" "g.49432651G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49038868G>A" "" "pathogenic (dominant)" ""
"0000117201" "0" "90" "12" "49432396" "49432396" "subst" "4.08033E-6" "01671" "KMT2D_000342" "g.49432396G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49038613G>A" "" "pathogenic (dominant)" ""
"0000117202" "0" "90" "12" "49432117" "49432117" "subst" "0" "01671" "KMT2D_000337" "g.49432117C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49038334C>A" "" "pathogenic (dominant)" ""
"0000117203" "0" "90" "12" "49431319" "49431319" "subst" "0" "01671" "KMT2D_000575" "g.49431319G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49037536G>A" "" "pathogenic (dominant)" ""
"0000117204" "0" "90" "12" "49431310" "49431310" "subst" "0" "01671" "KMT2D_000326" "g.49431310G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49037527G>A" "" "pathogenic (dominant)" ""
"0000117205" "0" "90" "12" "49427285" "49427285" "subst" "0" "01671" "KMT2D_000306" "g.49427285G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49033502G>A" "" "pathogenic (dominant)" ""
"0000117206" "0" "90" "12" "49427219" "49427219" "subst" "0" "01671" "KMT2D_000304" "g.49427219G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49033436G>A" "" "pathogenic (dominant)" ""
"0000117207" "0" "90" "12" "49427111" "49427111" "subst" "0" "01671" "KMT2D_000574" "g.49427111G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49033328G>A" "" "pathogenic (dominant)" ""
"0000117208" "0" "90" "12" "49426964" "49426964" "subst" "0" "01671" "KMT2D_000296" "g.49426964G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49033181G>A" "" "pathogenic (dominant)" ""
"0000117209" "0" "90" "12" "49426856" "49426856" "subst" "0" "01671" "KMT2D_000573" "g.49426856G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49033073G>A" "" "pathogenic (dominant)" ""
"0000117210" "0" "90" "12" "49426843" "49426843" "subst" "0" "01671" "KMT2D_000293" "g.49426843G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49033060G>C" "" "pathogenic (dominant)" ""
"0000117211" "0" "90" "12" "49426760" "49426760" "subst" "0" "01671" "KMT2D_000288" "g.49426760G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032977G>A" "" "pathogenic (dominant)" ""
"0000117212" "0" "90" "12" "49426637" "49426637" "subst" "0" "01671" "KMT2D_000275" "g.49426637G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032854G>A" "" "pathogenic (dominant)" ""
"0000117213" "0" "90" "12" "49426589" "49426589" "subst" "0" "01671" "KMT2D_000273" "g.49426589G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032806G>A" "" "pathogenic (dominant)" ""
"0000117214" "0" "90" "12" "49426544" "49426544" "subst" "0" "01671" "KMT2D_000271" "g.49426544G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032761G>A" "" "pathogenic (dominant)" ""
"0000117215" "0" "90" "12" "49426544" "49426544" "subst" "0" "01671" "KMT2D_000271" "g.49426544G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032761G>A" "" "pathogenic (dominant)" ""
"0000117216" "0" "90" "12" "49426511" "49426511" "subst" "0" "01671" "KMT2D_000269" "g.49426511G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032728G>A" "" "pathogenic (dominant)" ""
"0000117217" "0" "90" "12" "49426187" "49426187" "subst" "0" "01671" "KMT2D_000258" "g.49426187G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032404G>A" "" "pathogenic (dominant)" ""
"0000117218" "0" "90" "12" "49426019" "49426019" "subst" "0" "01671" "KMT2D_000252" "g.49426019G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032236G>A" "" "pathogenic (dominant)" ""
"0000117219" "0" "90" "12" "49425896" "49425896" "subst" "0" "01671" "KMT2D_000250" "g.49425896G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032113G>A" "" "pathogenic (dominant)" ""
"0000117220" "0" "90" "12" "49425896" "49425896" "subst" "0" "01671" "KMT2D_000250" "g.49425896G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032113G>A" "" "pathogenic (dominant)" ""
"0000117221" "0" "90" "12" "49425890" "49425890" "subst" "0" "01671" "KMT2D_000249" "g.49425890G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032107G>A" "" "pathogenic (dominant)" ""
"0000117222" "0" "90" "12" "49425833" "49425833" "subst" "0" "01671" "KMT2D_000572" "g.49425833G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032050G>A" "" "pathogenic (dominant)" ""
"0000117223" "0" "90" "12" "49425821" "49425821" "subst" "0" "01671" "KMT2D_000247" "g.49425821G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032038G>A" "" "pathogenic (dominant)" ""
"0000117224" "0" "90" "12" "49425800" "49425800" "subst" "0" "01671" "KMT2D_000246" "g.49425800G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032017G>A" "" "pathogenic (dominant)" ""
"0000117225" "0" "90" "12" "49425728" "49425728" "subst" "0" "01671" "KMT2D_000585" "g.49425728G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49031945G>A" "" "pathogenic (dominant)" ""
"0000117226" "0" "90" "12" "49425545" "49425545" "subst" "0" "01671" "KMT2D_000238" "g.49425545G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031762G>A" "" "pathogenic (dominant)" ""
"0000117227" "0" "90" "12" "49425533" "49425533" "subst" "0" "01671" "KMT2D_000043" "g.49425533T>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49031750T>A" "" "pathogenic (dominant)" ""
"0000117228" "0" "90" "12" "49425524" "49425524" "subst" "0" "01671" "KMT2D_000237" "g.49425524G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031741G>A" "" "pathogenic (dominant)" ""
"0000117229" "0" "90" "12" "49425203" "49425203" "subst" "0" "01671" "KMT2D_000227" "g.49425203G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49031420G>A" "" "pathogenic (dominant)" ""
"0000117230" "0" "90" "12" "49425038" "49425038" "subst" "0" "01671" "KMT2D_000223" "g.49425038G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031255G>A" "" "pathogenic (dominant)" ""
"0000117231" "0" "90" "12" "49425038" "49425038" "subst" "0" "01671" "KMT2D_000223" "g.49425038G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031255G>A" "" "pathogenic (dominant)" ""
"0000117232" "0" "90" "12" "49424741" "49424741" "subst" "0" "01671" "KMT2D_000219" "g.49424741G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49030958G>A" "" "pathogenic (dominant)" ""
"0000117233" "0" "90" "12" "49422906" "49422906" "subst" "0" "01671" "KMT2D_000208" "g.49422906C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49029123C>T" "" "pathogenic (dominant)" ""
"0000117234" "0" "90" "12" "49421039" "49421039" "subst" "0" "01671" "KMT2D_000201" "g.49421039G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027256G>A" "" "pathogenic (dominant)" ""
"0000117235" "0" "90" "12" "49421039" "49421039" "subst" "0" "01671" "KMT2D_000201" "g.49421039G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49027256G>A" "" "pathogenic (dominant)" ""
"0000117236" "0" "90" "12" "49421029" "49421029" "subst" "0" "01671" "KMT2D_000200" "g.49421029G>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027246G>T" "" "pathogenic (dominant)" ""
"0000117237" "0" "90" "12" "49420946" "49420946" "subst" "0" "01671" "KMT2D_000197" "g.49420946C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49027163C>A" "" "pathogenic (dominant)" ""
"0000117238" "0" "90" "12" "49420876" "49420876" "subst" "0" "01671" "KMT2D_000194" "g.49420876G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49027093G>C" "" "pathogenic (dominant)" ""
"0000117239" "0" "90" "12" "49420804" "49420804" "subst" "0" "01671" "KMT2D_000191" "g.49420804C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027021C>T" "" "pathogenic (dominant)" ""
"0000117240" "0" "90" "12" "49420803" "49420803" "subst" "0" "01671" "KMT2D_000190" "g.49420803C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027020C>T" "" "pathogenic (dominant)" ""
"0000117241" "0" "90" "12" "49420803" "49420803" "subst" "0" "01671" "KMT2D_000190" "g.49420803C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49027020C>T" "" "pathogenic (dominant)" ""
"0000117242" "0" "90" "12" "49420670" "49420670" "subst" "0" "01671" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026887G>A" "" "pathogenic (dominant)" ""
"0000117243" "0" "90" "12" "49420670" "49420670" "subst" "0" "01671" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026887G>A" "" "pathogenic (dominant)" ""
"0000117244" "0" "90" "12" "49420670" "49420670" "subst" "0" "01671" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026887G>A" "" "pathogenic (dominant)" ""
"0000117245" "0" "90" "12" "49420670" "49420670" "subst" "0" "01671" "KMT2D_000022" "g.49420670G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026887G>A" "" "pathogenic (dominant)" ""
"0000117246" "0" "90" "12" "49420493" "49420493" "subst" "0" "01671" "KMT2D_000170" "g.49420493G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026710G>A" "" "pathogenic (dominant)" ""
"0000117247" "0" "90" "12" "49420019" "49420019" "subst" "0" "01671" "KMT2D_000143" "g.49420019T>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026236T>A" "" "pathogenic (dominant)" ""
"0000117248" "0" "90" "12" "49419968" "49419968" "subst" "0" "01671" "KMT2D_000142" "g.49419968G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026185G>A" "" "pathogenic (dominant)" ""
"0000117249" "0" "90" "12" "49418594" "49418594" "subst" "0" "01671" "KMT2D_000137" "g.49418594G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49024811G>C" "" "pathogenic (dominant)" ""
"0000117250" "0" "90" "12" "49416133" "49416133" "subst" "0" "01671" "KMT2D_000543" "g.49416133G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49022350G>A" "" "pathogenic (dominant)" ""
"0000117251" "0" "90" "12" "49416115" "49416115" "subst" "0" "01671" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022332G>A" "" "pathogenic (dominant)" ""
"0000117252" "0" "90" "12" "49415846" "49415846" "subst" "0" "01671" "KMT2D_000553" "g.49415846G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49022063G>A" "" "pathogenic (dominant)" ""
"0000117253" "0" "90" "12" "49415846" "49415846" "subst" "0" "01671" "KMT2D_000553" "g.49415846G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49022063G>A" "" "pathogenic (dominant)" ""
"0000117254" "0" "90" "12" "49446104" "49446104" "del" "0" "01671" "KMT2D_000506" "g.49446104del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49052321del" "" "pathogenic (dominant)" ""
"0000117255" "0" "90" "12" "49446043" "49446043" "del" "0" "01671" "KMT2D_000505" "g.49446043del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49052260del" "" "pathogenic (dominant)" ""
"0000117256" "0" "90" "12" "49445889" "49445890" "del" "0" "01671" "KMT2D_000501" "g.49445889_49445890del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49052106_49052107del" "" "pathogenic (dominant)" ""
"0000117257" "0" "90" "12" "49445303" "49445303" "del" "0" "01671" "KMT2D_000493" "g.49445303del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49051520del" "" "pathogenic (dominant)" ""
"0000117258" "0" "90" "12" "49445121" "49445121" "del" "0" "01671" "KMT2D_000491" "g.49445121del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49051338del" "" "pathogenic (dominant)" ""
"0000117259" "0" "90" "12" "49444119" "49444123" "del" "0" "01671" "KMT2D_000569" "g.49444119_49444123del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49050336_49050340del" "" "pathogenic (dominant)" ""
"0000117260" "0" "90" "12" "49444046" "49444056" "del" "0" "01671" "KMT2D_000478" "g.49444046_49444056del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49050263_49050273del" "" "pathogenic (dominant)" ""
"0000117261" "0" "90" "12" "49443831" "49443831" "del" "0" "01671" "KMT2D_000473" "g.49443831del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49050048del" "" "pathogenic (dominant)" ""
"0000117262" "0" "90" "12" "49443747" "49443748" "del" "0" "01671" "KMT2D_000469" "g.49443747_49443748del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49049964_49049965del" "" "pathogenic (dominant)" ""
"0000117263" "0" "90" "12" "49441848" "49441849" "del" "0" "01671" "KMT2D_000062" "g.49441848_49441849del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic (dominant)" ""
"0000117264" "0" "90" "12" "49441848" "49441849" "del" "0" "01671" "KMT2D_000062" "g.49441848_49441849del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic (dominant)" ""
"0000117265" "0" "90" "12" "49438691" "49438691" "del" "0" "01671" "KMT2D_000427" "g.49438691del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49044908del" "" "pathogenic (dominant)" ""
"0000117266" "0" "90" "12" "49438082" "49438082" "del" "0" "01671" "KMT2D_000422" "g.49438082del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49044299del" "" "pathogenic (dominant)" ""
"0000117267" "0" "90" "12" "49436875" "49436878" "del" "0" "01671" "KMT2D_000411" "g.49436875_49436878del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49043092_49043095del" "" "pathogenic (dominant)" ""
"0000117268" "0" "90" "12" "49436875" "49436878" "del" "0" "01671" "KMT2D_000411" "g.49436875_49436878del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49043092_49043095del" "" "pathogenic (dominant)" ""
"0000117269" "0" "90" "12" "49436394" "49436394" "del" "0" "01671" "KMT2D_000564" "g.49436394del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49042611del" "" "pathogenic (dominant)" ""
"0000117270" "0" "90" "12" "49435275" "49435276" "del" "0" "01671" "KMT2D_000562" "g.49435275_49435276del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49041492_49041493del" "" "pathogenic (dominant)" ""
"0000117271" "0" "90" "12" "49435070" "49435073" "del" "0" "01671" "KMT2D_000561" "g.49435070_49435073del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49041287_49041290del" "" "pathogenic (dominant)" ""
"0000117272" "0" "90" "12" "49434958" "49434958" "del" "0" "01671" "KMT2D_000388" "g.49434958del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49041175del" "" "pathogenic (dominant)" ""
"0000117273" "0" "90" "12" "49434928" "49434928" "del" "0" "01671" "KMT2D_000385" "g.49434928del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041145del" "" "pathogenic (dominant)" ""
"0000117274" "0" "90" "12" "49434763" "49434763" "del" "0" "01671" "KMT2D_000560" "g.49434763del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49040980del" "" "pathogenic (dominant)" ""
"0000117275" "0" "90" "12" "49434274" "49434274" "del" "0" "01671" "KMT2D_000374" "g.49434274del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49040491del" "" "pathogenic (dominant)" ""
"0000117276" "0" "90" "12" "49433527" "49433528" "del" "0" "01671" "KMT2D_000577" "g.49433527_49433528del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49039744_49039745del" "" "pathogenic (dominant)" ""
"0000117277" "0" "90" "12" "49432729" "49432729" "del" "0" "01671" "KMT2D_000354" "g.49432729del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49038946del" "" "pathogenic (dominant)" ""
"0000117278" "0" "90" "12" "49431976" "49431976" "del" "0" "01671" "KMT2D_000335" "g.49431976del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49038193del" "" "pathogenic (dominant)" ""
"0000117279" "0" "90" "12" "49431547" "49431565" "del" "0" "01671" "KMT2D_000576" "g.49431547_49431565del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49037764_49037782del" "" "pathogenic (dominant)" ""
"0000117280" "0" "90" "12" "49427897" "49427897" "del" "0" "01671" "KMT2D_000315" "g.49427897del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49034114del" "" "pathogenic (dominant)" ""
"0000117281" "0" "90" "12" "49426811" "49426811" "del" "0" "01671" "KMT2D_000291" "g.49426811del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49033028del" "" "pathogenic (dominant)" ""
"0000117282" "0" "90" "12" "49426372" "49426373" "del" "0" "01671" "KMT2D_000267" "g.49426372_49426373del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032589_49032590del" "" "pathogenic (dominant)" ""
"0000117283" "0" "90" "12" "49426306" "49426306" "del" "0" "01671" "KMT2D_000263" "g.49426306del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032523del" "" "pathogenic (dominant)" ""
"0000117284" "0" "90" "12" "49426076" "49426077" "del" "0" "01671" "KMT2D_000256" "g.49426076_49426077del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49032293_49032294del" "" "pathogenic (dominant)" ""
"0000117285" "0" "90" "12" "49426033" "49426046" "del" "0" "01671" "KMT2D_000253" "g.49426033_49426046del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032250_49032263del" "" "pathogenic (dominant)" ""
"0000117286" "0" "90" "12" "49425789" "49425790" "del" "0" "01671" "KMT2D_000244" "g.49425789_49425790del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032006_49032007del" "" "pathogenic (dominant)" ""
"0000117287" "0" "90" "12" "49425678" "49425681" "del" "0" "01671" "KMT2D_000584" "g.49425678_49425681del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49031895_49031898del" "" "pathogenic (dominant)" ""
"0000117288" "0" "90" "12" "49425656" "49425656" "del" "0" "01671" "KMT2D_000239" "g.49425656del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49031873del" "" "pathogenic (dominant)" ""
"0000117289" "0" "90" "12" "49425447" "49425448" "del" "0" "01671" "KMT2D_000234" "g.49425447_49425448del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031664_49031665del" "" "pathogenic (dominant)" ""
"0000117290" "0" "90" "12" "49425045" "49425045" "del" "0" "01671" "KMT2D_000224" "g.49425045del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49031262del" "" "pathogenic (dominant)" ""
"0000117291" "0" "90" "12" "49424448" "49424448" "del" "0" "01671" "KMT2D_000217" "g.49424448del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49030665del" "" "pathogenic (dominant)" ""
"0000117292" "0" "90" "12" "49424158" "49424158" "del" "0" "01671" "KMT2D_000214" "g.49424158del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49030375del" "" "pathogenic (dominant)" ""
"0000117293" "0" "90" "12" "49424118" "49424118" "del" "0" "01671" "KMT2D_000212" "g.49424118del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49030335del" "" "pathogenic (dominant)" ""
"0000117294" "0" "90" "12" "49420865" "49420875" "del" "0" "01671" "KMT2D_000192" "g.49420865_49420875del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027082_49027092del" "" "pathogenic (dominant)" ""
"0000117295" "0" "90" "12" "49420774" "49420774" "del" "0" "01671" "KMT2D_000189" "g.49420774del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026991del" "" "pathogenic (dominant)" ""
"0000117296" "0" "50" "12" "49420592" "49420597" "del" "0" "01671" "KMT2D_000179" "g.49420592_49420597del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026809_49026814del" "" "VUS" ""
"0000117297" "0" "90" "12" "49420422" "49420422" "del" "0" "01671" "KMT2D_000167" "g.49420422del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026639del" "" "pathogenic (dominant)" ""
"0000117298" "0" "90" "12" "49418672" "49418672" "del" "0" "01671" "KMT2D_000139" "g.49418672del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49024889del" "" "pathogenic (dominant)" ""
"0000117299" "0" "90" "12" "49415865" "49415867" "del" "0" "01671" "KMT2D_000542" "g.49415865_49415867del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic (dominant)" ""
"0000117300" "0" "90" "12" "49415865" "49415867" "del" "0" "01671" "KMT2D_000542" "g.49415865_49415867del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic (dominant)" ""
"0000117301" "0" "90" "12" "49415865" "49415867" "del" "0" "01671" "KMT2D_000542" "g.49415865_49415867del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022082_49022084del" "" "pathogenic (dominant)" ""
"0000117302" "0" "90" "12" "49447347" "49447347" "dup" "0" "01671" "KMT2D_000519" "g.49447347dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49053564dup" "" "pathogenic (dominant)" ""
"0000117303" "0" "90" "12" "49446465" "49446466" "ins" "0" "01671" "KMT2D_000512" "g.49446465_49446466insTGGG" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49052682_49052683insTGGG" "" "pathogenic (dominant)" ""
"0000117304" "0" "90" "12" "49445505" "49445505" "dup" "0" "01671" "KMT2D_000495" "g.49445505dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49051722dup" "" "pathogenic (dominant)" ""
"0000117305" "0" "90" "12" "49444965" "49444965" "dup" "0" "01671" "KMT2D_000489" "g.49444965dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49051182dup" "" "pathogenic (dominant)" ""
"0000117306" "0" "90" "12" "49443702" "49443702" "dup" "0" "01671" "KMT2D_000468" "g.49443702dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49049919dup" "" "pathogenic (dominant)" ""
"0000117307" "0" "90" "12" "49443516" "49443516" "dup" "0" "01671" "KMT2D_000568" "g.49443516dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49049733dup" "" "pathogenic (dominant)" ""
"0000117308" "0" "90" "12" "49443470" "49443470" "dup" "0" "01671" "KMT2D_000464" "g.49443470dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49049687dup" "" "pathogenic (dominant)" ""
"0000117309" "0" "90" "12" "49437487" "49437490" "dup" "0" "01671" "KMT2D_000565" "g.49437487_49437490dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49043704_49043707dup" "" "pathogenic (dominant)" ""
"0000117310" "0" "90" "12" "49434565" "49434566" "ins" "0" "01671" "KMT2D_000379" "g.49434565_49434566insA" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49040782_49040783insA" "" "pathogenic (dominant)" ""
"0000117311" "0" "90" "12" "49434496" "49434496" "dup" "0" "01671" "KMT2D_000580" "g.49434496dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49040713dup" "" "pathogenic (dominant)" ""
"0000117312" "0" "90" "12" "49434358" "49434358" "dup" "0" "01671" "KMT2D_000377" "g.49434358dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49040575dup" "" "pathogenic (dominant)" ""
"0000117313" "0" "90" "12" "49434177" "49434177" "dup" "0" "01671" "KMT2D_000579" "g.49434177dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49040394dup" "" "pathogenic (dominant)" ""
"0000117314" "0" "90" "12" "49432430" "49432430" "dup" "0" "01671" "KMT2D_000346" "g.49432430dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49038647dup" "" "pathogenic (dominant)" ""
"0000117315" "0" "90" "12" "49432240" "49432240" "dup" "0" "01671" "KMT2D_000339" "g.49432240dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49038457dup" "" "pathogenic (dominant)" ""
"0000117316" "0" "50" "12" "49427265" "49427267" "dup" "0" "01671" "KMT2D_000305" "g.49427265_49427267dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49033482_49033484dup" "" "VUS" ""
"0000117317" "0" "90" "12" "49427015" "49427015" "dup" "0" "01671" "KMT2D_000300" "g.49427015dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49033232dup" "" "pathogenic (dominant)" ""
"0000117318" "0" "90" "12" "49426718" "49426718" "dup" "0" "01671" "KMT2D_000283" "g.49426718dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032935dup" "" "pathogenic (dominant)" ""
"0000117319" "0" "90" "12" "49425884" "49425888" "dup" "0" "01671" "KMT2D_000248" "g.49425884_49425888dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032101_49032105dup" "" "pathogenic (dominant)" ""
"0000117320" "0" "90" "12" "49425488" "49425512" "dup" "0" "01671" "KMT2D_000235" "g.49425488_49425512dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031705_49031729dup" "" "pathogenic (dominant)" ""
"0000117321" "0" "90" "12" "49425191" "49425191" "dup" "0" "01671" "KMT2D_000226" "g.49425191dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031408dup" "" "pathogenic (dominant)" ""
"0000117322" "0" "90" "12" "49420412" "49420412" "dup" "0" "01671" "KMT2D_000166" "g.49420412dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026629dup" "" "pathogenic (dominant)" ""
"0000117323" "0" "90" "12" "49420209" "49420209" "dup" "0" "01671" "KMT2D_000153" "g.49420209dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026426dup" "" "pathogenic (dominant)" ""
"0000117324" "0" "90" "12" "49420202" "49420203" "ins" "0" "01671" "KMT2D_000152" "g.49420202_49420203insC" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026419_49026420insC" "" "pathogenic (dominant)" ""
"0000117325" "0" "90" "12" "49416596" "49416596" "dup" "0" "01671" "KMT2D_000126" "g.49416596dup" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022813dup" "" "pathogenic (dominant)" ""
"0000117326" "0" "50" "12" "49443749" "49443749" "subst" "0" "01671" "KMT2D_000470" "g.49443749T>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49049966T>G" "" "VUS" ""
"0000117327" "0" "50" "12" "49442480" "49442480" "subst" "0" "01671" "KMT2D_000461" "g.49442480C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49048697C>A" "" "VUS" ""
"0000117328" "0" "90" "12" "49441813" "49441813" "subst" "0" "01671" "KMT2D_000063" "g.49441813C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49048030C>T" "" "pathogenic (dominant)" ""
"0000117329" "0" "90" "12" "49441770" "49441770" "subst" "0" "01671" "KMT2D_000452" "g.49441770T>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49047987T>A" "" "pathogenic (dominant)" ""
"0000117330" "0" "50" "12" "49440543" "49440543" "subst" "0" "01671" "KMT2D_000448" "g.49440543G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49046760G>C" "" "VUS" ""
"0000117331" "1" "50" "12" "49440543" "49440543" "subst" "0" "01671" "KMT2D_000447" "g.49440543G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "inherited from affected parent" "Germline" "yes" "" "0" "" "" "g.49046760G>A" "" "VUS" ""
"0000117332" "1" "50" "12" "49440543" "49440543" "subst" "0" "01671" "KMT2D_000447" "g.49440543G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "inherited from affected parent" "Germline" "yes" "" "0" "" "" "g.49046760G>A" "" "VUS" ""
"0000117333" "0" "50" "12" "49440543" "49440543" "subst" "0" "01671" "KMT2D_000447" "g.49440543G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49046760G>A" "" "VUS" ""
"0000117334" "0" "50" "12" "49440451" "49440451" "subst" "0" "01671" "KMT2D_000441" "g.49440451G>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49046668G>T" "" "VUS" ""
"0000117335" "0" "90" "12" "49440397" "49440397" "subst" "0" "01671" "KMT2D_000437" "g.49440397G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49046614G>C" "" "pathogenic (dominant)" ""
"0000117336" "0" "50" "12" "49435872" "49435872" "subst" "0" "01671" "KMT2D_000563" "g.49435872C>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49042089C>G" "" "VUS" ""
"0000117337" "0" "50" "12" "49435009" "49435009" "subst" "0" "01671" "KMT2D_000390" "g.49435009C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49041226C>T" "" "VUS" ""
"0000117338" "0" "90" "12" "49431994" "49431994" "subst" "0" "01671" "KMT2D_000336" "g.49431994G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49038211G>C" "" "pathogenic (dominant)" ""
"0000117339" "0" "50" "12" "49426697" "49426697" "subst" "0" "01671" "KMT2D_000282" "g.49426697G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49032914G>A" "" "VUS" ""
"0000117340" "0" "90" "12" "49423204" "49423204" "subst" "0" "01671" "KMT2D_000210" "g.49423204G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49029421G>C" "" "pathogenic (dominant)" ""
"0000117341" "0" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01671" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026824G>A" "" "pathogenic (dominant)" ""
"0000117342" "0" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01671" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026824G>A" "" "pathogenic (dominant)" ""
"0000117343" "0" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01671" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026824G>A" "" "pathogenic (dominant)" ""
"0000117344" "0" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01671" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026824G>A" "" "pathogenic (dominant)" ""
"0000117345" "0" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "01671" "KMT2D_000181" "g.49420607G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026824G>A" "" "pathogenic (dominant)" ""
"0000117346" "0" "50" "12" "49420606" "49420606" "subst" "0" "01671" "KMT2D_000180" "g.49420606C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026823C>T" "" "VUS" ""
"0000117347" "0" "50" "12" "49420606" "49420606" "subst" "0" "01671" "KMT2D_000180" "g.49420606C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026823C>T" "" "VUS" ""
"0000117348" "0" "50" "12" "49420573" "49420573" "subst" "0" "01671" "KMT2D_000177" "g.49420573T>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026790T>C" "" "VUS" ""
"0000117349" "0" "90" "12" "49420543" "49420543" "subst" "0" "01671" "KMT2D_000173" "g.49420543A>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026760A>T" "" "pathogenic (dominant)" ""
"0000117350" "0" "90" "12" "49420400" "49420400" "subst" "0" "01671" "KMT2D_000164" "g.49420400A>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026617A>C" "" "pathogenic (dominant)" ""
"0000117351" "0" "50" "12" "49420352" "49420352" "subst" "0" "01671" "KMT2D_000161" "g.49420352A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026569A>G" "" "VUS" ""
"0000117352" "0" "90" "12" "49420288" "49420288" "subst" "0" "01671" "KMT2D_000158" "g.49420288C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026505C>T" "" "pathogenic (dominant)" ""
"0000117353" "0" "90" "12" "49420288" "49420288" "subst" "0" "01671" "KMT2D_000158" "g.49420288C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026505C>T" "" "pathogenic (dominant)" ""
"0000117354" "0" "90" "12" "49420214" "49420214" "subst" "0" "01671" "KMT2D_000156" "g.49420214G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026431G>A" "" "pathogenic (dominant)" ""
"0000117355" "0" "90" "12" "49420213" "49420213" "subst" "0" "01671" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026430C>T" "" "pathogenic (dominant)" ""
"0000117356" "0" "90" "12" "49420213" "49420213" "subst" "0" "01671" "KMT2D_000154" "g.49420213C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026430C>T" "" "pathogenic (dominant)" ""
"0000117357" "0" "90" "12" "49420213" "49420213" "subst" "0" "01671" "KMT2D_000155" "g.49420213C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026430C>A" "" "pathogenic (dominant)" ""
"0000117358" "0" "90" "12" "49420213" "49420213" "subst" "0" "01671" "KMT2D_000155" "g.49420213C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026430C>A" "" "pathogenic (dominant)" ""
"0000117359" "0" "90" "12" "49420184" "49420184" "subst" "0" "01671" "KMT2D_000149" "g.49420184C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026401C>T" "" "pathogenic (dominant)" ""
"0000117360" "0" "90" "12" "49420115" "49420115" "subst" "0" "01671" "KMT2D_000582" "g.49420115C>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026332C>G" "" "pathogenic (dominant)" ""
"0000117361" "0" "90" "12" "49420109" "49420109" "subst" "0" "01671" "KMT2D_000146" "g.49420109G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026326G>A" "" "pathogenic (dominant)" ""
"0000117362" "0" "90" "12" "49420109" "49420109" "subst" "0" "01671" "KMT2D_000146" "g.49420109G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49026326G>A" "" "pathogenic (dominant)" ""
"0000117363" "0" "90" "12" "49420076" "49420076" "subst" "0" "01671" "KMT2D_000144" "g.49420076G>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026293G>A" "" "pathogenic (dominant)" ""
"0000117364" "0" "90" "12" "49418394" "49418394" "subst" "0" "01671" "KMT2D_000132" "g.49418394C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49024611C>T" "" "pathogenic (dominant)" ""
"0000117365" "0" "90" "12" "49418361" "49418361" "subst" "0" "01671" "KMT2D_000130" "g.49418361C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49024578C>T" "" "pathogenic (dominant)" ""
"0000117366" "0" "90" "12" "49416438" "49416438" "subst" "0" "01671" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022655C>T" "" "pathogenic (dominant)" ""
"0000117367" "0" "90" "12" "49416438" "49416438" "subst" "0" "01671" "KMT2D_000053" "g.49416438C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022655C>T" "" "pathogenic (dominant)" ""
"0000117368" "0" "90" "12" "49416416" "49416416" "subst" "0" "01671" "KMT2D_000120" "g.49416416C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022633C>T" "" "pathogenic (dominant)" ""
"0000117369" "0" "90" "12" "49416396" "49416396" "subst" "0" "01671" "KMT2D_000552" "g.49416396G>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49022613G>C" "" "pathogenic (dominant)" ""
"0000117370" "0" "90" "12" "49415905" "49415905" "subst" "4.06174E-6" "01671" "KMT2D_000545" "g.49415905C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49022122C>T" "" "pathogenic (dominant)" ""
"0000117371" "0" "90" "12" "49448536" "49448536" "subst" "0" "01671" "KMT2D_000533" "g.49448536T>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49054753T>C" "" "pathogenic (dominant)" ""
"0000117372" "0" "90" "12" "49448309" "49448309" "subst" "0" "01671" "KMT2D_000532" "g.49448309A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49054526A>G" "" "pathogenic (dominant)" ""
"0000117373" "0" "90" "12" "49447257" "49447257" "subst" "0" "01671" "KMT2D_000571" "g.49447257A>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49053474A>T" "" "pathogenic (dominant)" ""
"0000117374" "0" "90" "12" "49444668" "49444668" "subst" "0" "01671" "KMT2D_000486" "g.49444668C>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49050885C>G" "" "pathogenic (dominant)" ""
"0000117375" "0" "90" "12" "49443464" "49443464" "subst" "0" "01671" "KMT2D_000567" "g.49443464C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49049681C>A" "" "pathogenic (dominant)" ""
"0000117376" "0" "90" "12" "49443463" "49443463" "subst" "0" "01671" "KMT2D_000463" "g.49443463A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49049680A>G" "" "pathogenic (dominant)" ""
"0000117377" "0" "90" "12" "49433003" "49433003" "subst" "0" "01671" "KMT2D_000356" "g.49433003A>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49039220A>G" "" "pathogenic (dominant)" ""
"0000117378" "0" "90" "12" "49424818" "49424818" "subst" "0" "01671" "KMT2D_000222" "g.49424818T>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49031035T>G" "" "pathogenic (dominant)" ""
"0000117379" "0" "90" "12" "49423020" "49423020" "subst" "0" "01671" "KMT2D_000209" "g.49423020C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49029237C>T" "" "pathogenic (dominant)" ""
"0000117380" "0" "90" "12" "49421792" "49421792" "del" "0" "01671" "KMT2D_000205" "g.49421792del" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49028009del" "" "pathogenic (dominant)" ""
"0000117381" "0" "90" "12" "49421714" "49421714" "subst" "0" "01671" "KMT2D_000204" "g.49421714C>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027931C>G" "" "pathogenic (dominant)" ""
"0000117382" "0" "90" "12" "49421585" "49421585" "subst" "0" "01671" "KMT2D_000583" "g.49421585C>A" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49027802C>A" "" "pathogenic (dominant)" ""
"0000117383" "0" "90" "12" "49419960" "49419960" "subst" "0" "01671" "KMT2D_000581" "g.49419960C>T" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49026177C>T" "" "pathogenic (dominant)" ""
"0000117384" "0" "90" "12" "49416059" "49416059" "subst" "0" "01671" "KMT2D_000586" "g.49416059T>C" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "De novo" "" "" "0" "" "" "g.49022276T>C" "" "pathogenic (dominant)" ""
"0000117385" "0" "90" "12" "49416058" "49416058" "subst" "0" "01671" "KMT2D_000536" "g.49416058C>G" "" "{PMID:Bögershausen 2016:27302555}, {DOI:Bögershausen 2016:10.1002/humu.23026}" "" "" "" "Germline" "yes" "" "0" "" "" "g.49022275C>G" "" "pathogenic (dominant)" ""
"0000117386" "0" "90" "12" "49416103" "49416106" "del" "0" "01380" "KMT2D_000540" "g.49416103_49416106del" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "16371_16374delTGAA" "" "Germline" "" "" "0" "" "" "g.49022320_49022323del" "" "pathogenic" ""
"0000117387" "0" "90" "12" "49432396" "49432396" "subst" "4.08033E-6" "01380" "KMT2D_000342" "g.49432396G>A" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Germline" "" "" "0" "" "" "g.49038613G>A" "" "pathogenic" ""
"0000117388" "0" "90" "12" "49436875" "49436878" "del" "0" "01380" "KMT2D_000411" "g.49436875_49436878del" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "5625_5628delAGAC" "" "Germline" "" "" "0" "" "" "g.49043092_49043095del" "" "pathogenic" ""
"0000117389" "0" "30" "12" "49443581" "49443581" "subst" "0" "00006" "KMT2D_000556" "g.49443581G>C" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Germline" "" "" "0" "" "" "g.49049798G>C" "" "likely benign" ""
"0000117390" "0" "30" "12" "49434924" "49434924" "subst" "0.00263771" "00006" "KMT2D_000557" "g.49434924G>A" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Germline" "" "" "0" "" "" "g.49041141G>A" "" "likely benign" ""
"0000117391" "0" "30" "12" "49433837" "49433837" "subst" "0" "00006" "KMT2D_000558" "g.49433837C>A" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Germline" "" "" "0" "" "" "g.49040054C>A" "" "likely benign" ""
"0000117392" "0" "30" "12" "49420696" "49420696" "subst" "4.06217E-6" "00006" "KMT2D_000559" "g.49420696G>A" "" "{PMID:Paderova 2016:26841933}, {DOI:Paderova 2016:10.1111/cge.12754}" "" "" "" "Germline" "" "" "0" "" "" "g.49026913G>A" "" "likely benign" ""
"0000165284" "0" "90" "12" "49431034" "49431034" "del" "0" "01864" "KMT2D_000588" "g.49431034del" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49037251del" "" "pathogenic" ""
"0000168992" "1" "50" "12" "49438673" "49438673" "subst" "0" "00006" "KMT2D_000587" "g.49438673G>A" "" "{PMID:Sun 2016:27984602}" "" "4817G>A (1606S>L)" "" "Germline" "" "" "0" "" "" "g.49044890G>A" "" "VUS" ""
"0000169333" "0" "70" "12" "49424089" "49424089" "subst" "0" "00587" "KMT2D_000589" "g.49424089G>A" "" "{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}" "" "NM_003482.3(KMT2D):c.13973C>T p.(Ala4658Val)" "variant could not be associated with disease phenotype" "Germline" "" "" "0" "" "" "g.49030306G>A" "" "likely pathogenic" ""
"0000249451" "0" "30" "12" "49445616" "49445616" "subst" "0" "02325" "KMT2D_000689" "g.49445616A>T" "" "" "" "KMT2D(NM_003482.4):c.1850T>A (p.L617H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051833A>T" "" "likely benign" ""
"0000253691" "0" "10" "12" "49426460" "49426460" "subst" "0.0263664" "01943" "KMT2D_000081" "g.49426460A>G" "" "" "" "KMT2D(NM_003482.3):c.12028T>C (p.S4010P, p.(Ser4010Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032677A>G" "" "benign" ""
"0000254295" "0" "30" "12" "49425033" "49425033" "subst" "0" "01943" "KMT2D_000608" "g.49425033A>C" "" "" "" "KMT2D(NM_003482.3):c.13455T>G (p.A4485=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49031250A>C" "" "likely benign" ""
"0000254880" "0" "30" "12" "49445414" "49445414" "subst" "0.00083511" "01943" "KMT2D_000685" "g.49445414A>T" "" "" "" "KMT2D(NM_003482.3):c.2052T>A (p.P684=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051631A>T" "" "likely benign" ""
"0000255021" "0" "30" "12" "49445704" "49445704" "subst" "0" "01943" "KMT2D_000691" "g.49445704A>G" "" "" "" "KMT2D(NM_003482.3):c.1762T>C (p.S588P), KMT2D(NM_003482.4):c.1762T>C (p.(Ser588Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051921A>G" "" "likely benign" ""
"0000255133" "0" "30" "12" "49427641" "49427641" "subst" "1.18725E-5" "01943" "KMT2D_000626" "g.49427641A>G" "" "" "" "KMT2D(NM_003482.3):c.10847T>C (p.V3616A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033858A>G" "" "likely benign" ""
"0000255277" "0" "30" "12" "49443010" "49443010" "subst" "4.91212E-5" "01943" "KMT2D_000672" "g.49443010A>C" "" "" "" "KMT2D(NM_003482.3):c.3907-9T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49049227A>C" "" "likely benign" ""
"0000281832" "0" "90" "12" "49431137" "49431143" "del" "0" "02325" "KMT2D_000633" "g.49431137_49431143del" "" "" "" "KMT2D(NM_003482.4):c.10001_10007delCACCAGC (p.P3334Lfs*22)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037354_49037360del" "" "pathogenic" ""
"0000281833" "0" "10" "12" "49430947" "49430947" "subst" "0.00875387" "02325" "KMT2D_000032" "g.49430947T>C" "" "" "" "KMT2D(NM_003482.3):c.10192A>G (p.(Met3398Val), p.M3398V), KMT2D(NM_003482.4):c.10192A>G (p.M3398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037164T>C" "" "benign" ""
"0000281835" "0" "50" "12" "49427615" "49427615" "subst" "0" "02325" "KMT2D_000625" "g.49427615G>T" "" "" "" "KMT2D(NM_003482.4):c.10873C>A (p.P3625T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033832G>T" "" "VUS" ""
"0000281837" "0" "30" "12" "49416048" "49416048" "del" "0" "02325" "KMT2D_000590" "g.49416048del" "" "" "" "KMT2D(NM_003482.4):c.16412+16delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49022265del" "" "likely benign" ""
"0000281838" "0" "30" "12" "49445673" "49445673" "subst" "0.000121863" "02325" "KMT2D_000690" "g.49445673C>T" "" "" "" "KMT2D(NM_003482.4):c.1793G>A (p.R598H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051890C>T" "" "likely benign" ""
"0000281839" "0" "50" "12" "49445543" "49445543" "subst" "0" "02325" "KMT2D_000688" "g.49445543T>G" "" "" "" "KMT2D(NM_003482.4):c.1923A>C (p.E641D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051760T>G" "" "VUS" ""
"0000281840" "0" "50" "12" "49445428" "49445428" "subst" "0" "02325" "KMT2D_000686" "g.49445428T>G" "" "" "" "KMT2D(NM_003482.4):c.2038A>C (p.T680P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051645T>G" "" "VUS" ""
"0000281841" "0" "50" "12" "49444985" "49444985" "subst" "0" "02325" "KMT2D_000680" "g.49444985T>G" "" "" "" "KMT2D(NM_003482.3):c.2481A>C (p.(Gln827His)), KMT2D(NM_003482.4):c.2481A>C (p.Q827H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051202T>G" "" "VUS" ""
"0000281842" "0" "30" "12" "49444932" "49444932" "subst" "0" "02325" "KMT2D_000679" "g.49444932C>A" "" "" "" "KMT2D(NM_003482.4):c.2534G>T (p.R845L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051149C>A" "" "likely benign" ""
"0000281843" "0" "30" "12" "49440409" "49440409" "subst" "0.0022598" "02325" "KMT2D_000668" "g.49440409G>A" "" "" "" "KMT2D(NM_003482.4):c.4401C>T (p.(Gly1467=), p.G1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49046626G>A" "" "likely benign" ""
"0000281844" "0" "10" "12" "49434074" "49434074" "subst" "0.410734" "02325" "KMT2D_000089" "g.49434074C>A" "" "" "" "KMT2D(NM_003482.4):c.7479G>T (p.G2493=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040291C>A" "" "benign" ""
"0000281845" "0" "90" "12" "49433620" "49433620" "subst" "0" "02325" "KMT2D_000365" "g.49433620G>A" "" "" "" "KMT2D(NM_003482.4):c.7933C>T (p.R2645*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49039837G>A" "" "pathogenic" ""
"0000281846" "0" "30" "12" "49433414" "49433414" "dup" "0" "02325" "KMT2D_000642" "g.49433414dup" "" "" "" "KMT2D(NM_003482.4):c.8047-7dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49039631dup" "" "likely benign" ""
"0000283502" "0" "70" "12" "49446342" "49446342" "subst" "0" "02329" "KMT2D_000695" "g.49446342C>T" "" "" "" "KMT2D(NM_003482.4):c.1258+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052559C>T" "" "likely pathogenic" ""
"0000283503" "0" "50" "12" "49425853" "49425853" "subst" "1.62632E-5" "02329" "KMT2D_000612" "g.49425853C>T" "" "" "" "KMT2D(NM_003482.4):c.12635G>A (p.R4212Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032070C>T" "" "VUS" ""
"0000285842" "0" "30" "12" "49430947" "49430947" "subst" "0.00875387" "02326" "KMT2D_000032" "g.49430947T>C" "" "" "" "KMT2D(NM_003482.3):c.10192A>G (p.(Met3398Val), p.M3398V), KMT2D(NM_003482.4):c.10192A>G (p.M3398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037164T>C" "" "likely benign" ""
"0000285843" "0" "30" "12" "49446161" "49446161" "subst" "5.32493E-6" "02326" "KMT2D_000694" "g.49446161G>A" "" "" "" "KMT2D(NM_003482.3):c.1305C>T (p.N435=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052378G>A" "" "likely benign" ""
"0000285844" "0" "90" "12" "49420493" "49420493" "subst" "0" "02326" "KMT2D_000170" "g.49420493G>A" "" "" "" "KMT2D(NM_003482.3):c.15256C>T (p.R5086*), KMT2D(NM_003482.4):c.15256C>T (p.R5086*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49026710G>A" "" "pathogenic" ""
"0000285845" "0" "30" "12" "49443799" "49443799" "subst" "0.000967377" "02326" "KMT2D_000059" "g.49443799G>A" "" "" "" "KMT2D(NM_003482.3):c.3572C>T (p.P1191L), KMT2D(NM_003482.4):c.3572C>T (p.(Pro1191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49050016G>A" "" "likely benign" ""
"0000285846" "0" "30" "12" "49442904" "49442904" "subst" "0" "02326" "KMT2D_000671" "g.49442904G>C" "" "" "" "KMT2D(NM_003482.3):c.4004C>G (p.S1335C), KMT2D(NM_003482.4):c.4004C>G (p.S1335C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49049121G>C" "" "likely benign" ""
"0000285847" "0" "30" "12" "49440084" "49440084" "subst" "1.62459E-5" "02326" "KMT2D_000665" "g.49440084G>A" "" "" "" "KMT2D(NM_003482.3):c.4542C>T (p.Y1514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49046301G>A" "" "likely benign" ""
"0000285848" "0" "10" "12" "49434409" "49434409" "subst" "0.0120309" "02326" "KMT2D_000650" "g.49434409G>A" "" "" "" "(p.Pro2382Ser), KMT2D(NM_003482.3):c.7144C>T (p.(Pro2382Ser), p.P2382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040626G>A" "" "benign" ""
"0000290449" "0" "10" "12" "49431094" "49431094" "subst" "0.00272019" "01943" "KMT2D_000632" "g.49431094T>C" "" "" "" "KMT2D(NM_003482.3):c.10045A>G (p.M3349V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037311T>C" "" "benign" ""
"0000290450" "0" "50" "12" "49446768" "49446768" "subst" "4.87329E-5" "01943" "KMT2D_000697" "g.49446768G>A" "" "" "" "KMT2D(NM_003482.3):c.1042C>T (p.R348C), KMT2D(NM_003482.4):c.1042C>T (p.(Arg348Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052985G>A" "" "VUS" ""
"0000290451" "0" "30" "12" "49427108" "49427108" "subst" "0.000625616" "01943" "KMT2D_000621" "g.49427108G>A" "" "" "" "KMT2D(NM_003482.3):c.11380C>T (p.P3794S), KMT2D(NM_003482.4):c.11380C>T (p.(Pro3794Ser), p.P3794S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033325G>A" "" "likely benign" ""
"0000290452" "0" "50" "12" "49426629" "49426649" "del" "0" "01943" "KMT2D_000618" "g.49426629_49426649del" "" "" "" "KMT2D(NM_003482.3):c.11844_11864delTCAACAGCAGCAACAGCAGCT (p.L3955_Q3961del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032846_49032866del" "" "VUS" ""
"0000290453" "0" "50" "12" "49425979" "49425979" "subst" "1.63193E-5" "01943" "KMT2D_000616" "g.49425979G>A" "" "" "" "KMT2D(NM_003482.3):c.12509C>T (p.P4170L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032196G>A" "" "VUS" ""
"0000290454" "0" "50" "12" "49425871" "49425871" "subst" "4.06653E-6" "01943" "KMT2D_000614" "g.49425871G>A" "" "" "" "KMT2D(NM_003482.3):c.12617C>T (p.A4206V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032088G>A" "" "VUS" ""
"0000290456" "0" "50" "12" "49425430" "49425430" "subst" "3.46473E-5" "01943" "KMT2D_000233" "g.49425430G>A" "" "" "" "KMT2D(NM_003482.3):c.13058C>T (p.P4353L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49031647G>A" "" "VUS" ""
"0000290457" "0" "10" "12" "49424703" "49424703" "subst" "0.00355856" "01943" "KMT2D_000607" "g.49424703G>A" "" "" "" "KMT2D(NM_003482.3):c.13644C>T (p.S4548=), KMT2D(NM_003482.4):c.13644C>T (p.(Ser4548=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030920G>A" "" "benign" ""
"0000290458" "0" "50" "12" "49424467" "49424467" "subst" "4.08513E-6" "01943" "KMT2D_000606" "g.49424467T>A" "" "" "" "KMT2D(NM_003482.3):c.13756A>T (p.N4586Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030684T>A" "" "VUS" ""
"0000290459" "0" "30" "12" "49424172" "49424172" "subst" "8.94542E-6" "01943" "KMT2D_000603" "g.49424172T>G" "" "" "" "KMT2D(NM_003482.3):c.13890A>C (p.P4630=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030389T>G" "" "likely benign" ""
"0000290460" "0" "30" "12" "49421882" "49421882" "subst" "4.0623E-6" "01943" "KMT2D_000600" "g.49421882T>C" "" "" "" "KMT2D(NM_003482.3):c.14425A>G (p.M4809V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49028099T>C" "" "likely benign" ""
"0000290461" "0" "30" "12" "49421795" "49421795" "subst" "0" "01943" "KMT2D_000598" "g.49421795G>A" "" "" "" "KMT2D(NM_003482.3):c.14512C>T (p.P4838S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49028012G>A" "" "likely benign" ""
"0000290462" "0" "50" "12" "49420919" "49420919" "subst" "4.58728E-6" "01943" "KMT2D_000597" "g.49420919G>C" "" "" "" "KMT2D(NM_003482.3):c.14830C>G (p.P4944A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49027136G>C" "" "VUS" ""
"0000290463" "0" "50" "12" "49445979" "49445979" "subst" "4.07884E-6" "01943" "KMT2D_000692" "g.49445979G>A" "" "" "" "KMT2D(NM_003482.3):c.1487C>T (p.P496L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052196G>A" "" "VUS" ""
"0000290464" "0" "50" "12" "49420184" "49420184" "subst" "0" "01943" "KMT2D_000149" "g.49420184C>T" "" "" "" "KMT2D(NM_003482.3):c.15565G>A (p.G5189R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49026401C>T" "" "VUS" ""
"0000290465" "0" "30" "12" "49444379" "49444379" "subst" "0.000472761" "01943" "KMT2D_000677" "g.49444379G>T" "" "" "" "KMT2D(NM_003482.3):c.2992C>A (p.P998T, p.(Pro998Thr)), KMT2D(NM_003482.4):c.2992C>A (p.P998T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49050596G>T" "" "likely benign" ""
"0000290466" "0" "30" "12" "49444006" "49444006" "subst" "8.17167E-6" "01943" "KMT2D_000676" "g.49444006G>A" "" "" "" "KMT2D(NM_003482.3):c.3365C>T (p.T1122I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49050223G>A" "" "likely benign" ""
"0000290467" "0" "30" "12" "49443979" "49443979" "subst" "0.00118135" "01943" "KMT2D_000057" "g.49443979G>A" "" "" "" "KMT2D(NM_003482.3):c.3392C>T (p.P1131L, p.(Pro1131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49050196G>A" "" "likely benign" ""
"0000290468" "0" "30" "12" "49443705" "49443705" "subst" "0.000219569" "01943" "KMT2D_000675" "g.49443705G>A" "" "" "" "KMT2D(NM_003482.3):c.3666C>T (p.G1222=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49049922G>A" "" "likely benign" ""
"0000290469" "0" "30" "12" "49443552" "49443552" "subst" "0.000907146" "01943" "KMT2D_000674" "g.49443552G>A" "" "" "" "KMT2D(NM_003482.3):c.3819C>T (p.C1273=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49049769G>A" "" "likely benign" ""
"0000290470" "0" "30" "12" "49443486" "49443486" "subst" "0" "01943" "KMT2D_000673" "g.49443486T>G" "" "" "" "KMT2D(NM_003482.3):c.3885A>C (p.P1295=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49049703T>G" "" "likely benign" ""
"0000290471" "0" "50" "12" "49448156" "49448156" "subst" "0" "01943" "KMT2D_000698" "g.49448156G>A" "" "" "" "KMT2D(NM_003482.3):c.444C>T (p.G148=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49054373G>A" "" "VUS" ""
"0000290472" "0" "30" "12" "49440101" "49440101" "subst" "0.000166503" "01943" "KMT2D_000666" "g.49440101T>C" "" "" "" "KMT2D(NM_003482.3):c.4525A>G (p.I1509V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49046318T>C" "" "likely benign" ""
"0000290473" "0" "50" "12" "49437202" "49437202" "subst" "0.000999033" "01943" "KMT2D_000414" "g.49437202C>A" "" "" "" "KMT2D(NM_003482.3):c.5477G>T (p.G1826V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49043419C>A" "" "VUS" ""
"0000290474" "0" "30" "12" "49436068" "49436068" "subst" "0.000221097" "01943" "KMT2D_000662" "g.49436068G>A" "" "" "" "KMT2D(NM_003482.3):c.5913C>T (p.S1971=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49042285G>A" "" "likely benign" ""
"0000290475" "0" "50" "12" "49435206" "49435206" "subst" "0" "01943" "KMT2D_000661" "g.49435206G>T" "" "" "" "KMT2D(NM_003482.3):c.6347C>A (p.P2116Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041423G>T" "" "VUS" ""
"0000290476" "0" "30" "12" "49435199" "49435199" "subst" "0.000640901" "01943" "KMT2D_000660" "g.49435199G>A" "" "" "" "KMT2D(NM_003482.3):c.6354C>T (p.P2118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041416G>A" "" "likely benign" ""
"0000290477" "0" "30" "12" "49434980" "49434980" "subst" "0.00190746" "01943" "KMT2D_000659" "g.49434980C>T" "" "" "" "KMT2D(NM_003482.3):c.6573G>A (p.T2191=), KMT2D(NM_003482.4):c.6573G>A (p.T2191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041197C>T" "" "likely benign" ""
"0000290478" "0" "50" "12" "49434820" "49434820" "subst" "0.0011608" "01943" "KMT2D_000656" "g.49434820G>C" "" "" "" "KMT2D(NM_003482.3):c.6733C>G (p.L2245V, p.(Leu2245Val)), KMT2D(NM_003482.4):c.6733C>G (p.L2245V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041037G>C" "" "VUS" ""
"0000290479" "0" "10" "12" "49434801" "49434801" "subst" "0.00240739" "01943" "KMT2D_000655" "g.49434801G>A" "" "" "" "KMT2D(NM_003482.3):c.6752C>T (p.S2251L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041018G>A" "" "benign" ""
"0000290480" "0" "50" "12" "49434708" "49434708" "subst" "4.07176E-6" "01943" "KMT2D_000654" "g.49434708C>A" "" "" "" "KMT2D(NM_003482.3):c.6845G>T (p.R2282L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040925C>A" "" "VUS" ""
"0000290481" "0" "90" "12" "49434467" "49434468" "del" "0" "01943" "KMT2D_000651" "g.49434467_49434468del" "" "" "" "KMT2D(NM_003482.3):c.7086_7087delTC (p.P2363Kfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040684_49040685del" "" "pathogenic" ""
"0000290482" "0" "30" "12" "49434383" "49434383" "subst" "5.7324E-5" "01943" "KMT2D_000649" "g.49434383C>T" "" "" "" "KMT2D(NM_003482.3):c.7170G>A (p.P2390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040600C>T" "" "likely benign" ""
"0000290483" "0" "10" "12" "49433883" "49433883" "subst" "0.00827137" "01943" "KMT2D_000645" "g.49433883G>A" "" "" "" "KMT2D(NM_003482.3):c.7670C>T (p.P2557L, p.(Pro2557Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040100G>A" "" "benign" ""
"0000290484" "0" "30" "12" "49433848" "49433848" "subst" "0.00061924" "01943" "KMT2D_000644" "g.49433848C>T" "" "" "" "KMT2D(NM_003482.3):c.7705G>A (p.G2569S), KMT2D(NM_003482.4):c.7705G>A (p.(Gly2569Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040065C>T" "" "likely benign" ""
"0000290485" "0" "30" "12" "49433599" "49433599" "subst" "0.000312751" "01943" "KMT2D_000643" "g.49433599T>G" "" "" "" "KMT2D(NM_003482.3):c.7954A>C (p.M2652L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49039816T>G" "" "likely benign" ""
"0000290486" "0" "30" "12" "49433015" "49433015" "subst" "4.07697E-6" "01943" "KMT2D_000641" "g.49433015C>T" "" "" "" "KMT2D(NM_003482.3):c.8356G>A (p.V2786M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49039232C>T" "" "likely benign" ""
"0000290487" "0" "30" "12" "49432365" "49432365" "subst" "0.00167696" "01943" "KMT2D_000341" "g.49432365G>A" "" "" "" "KMT2D(NM_003482.3):c.8774C>T (p.A2925V, p.(Ala2925Val)), KMT2D(NM_003482.4):c.8774C>T (p.A2925V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49038582G>A" "" "likely benign" ""
"0000290488" "0" "50" "12" "49431844" "49431844" "subst" "2.46384E-5" "01943" "KMT2D_000639" "g.49431844G>A" "" "" "" "KMT2D(NM_003482.3):c.9295C>T (p.R3099C, p.(Arg3099Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49038061G>A" "" "VUS" ""
"0000290489" "0" "30" "12" "49431400" "49431400" "subst" "4.75936E-5" "01943" "KMT2D_000635" "g.49431400G>A" "" "" "" "KMT2D(NM_003482.3):c.9739C>T (p.L3247=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037617G>A" "" "likely benign" ""
"0000290490" "0" "50" "12" "49431226" "49431226" "subst" "3.59299E-5" "01943" "KMT2D_000634" "g.49431226T>C" "" "" "" "KMT2D(NM_003482.3):c.9913A>G (p.S3305G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037443T>C" "" "VUS" ""
"0000322781" "0" "50" "12" "49412509" "49412509" "subst" "8.13418E-6" "01804" "PRKAG1_000001" "g.49412509C>T" "" "" "" "PRKAG1(NM_001206709.1):c.9+6G>A (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49018726C>T" "" "VUS" ""
"0000322782" "0" "50" "12" "49416666" "49416666" "subst" "0" "01804" "KMT2D_000591" "g.49416666G>A" "" "" "" "KMT2D(NM_003482.3):c.16053-8C>T (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49022883G>A" "" "VUS" ""
"0000322784" "0" "30" "12" "49420247" "49420247" "subst" "8.15408E-6" "01804" "KMT2D_000594" "g.49420247T>C" "" "" "" "KMT2D(NM_003482.3):c.15502A>G (p.(Ile5168Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49026464T>C" "" "likely benign" ""
"0000322785" "0" "30" "12" "49420477" "49420477" "subst" "8.12539E-6" "01804" "KMT2D_000595" "g.49420477T>C" "" "" "" "KMT2D(NM_003482.3):c.15272A>G (p.(Lys5091Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49026694T>C" "" "likely benign" ""
"0000322787" "0" "30" "12" "49421834" "49421834" "subst" "4.06319E-5" "01804" "KMT2D_000599" "g.49421834G>A" "" "" "" "KMT2D(NM_003482.3):c.14473C>T (p.R4825W, p.(Arg4825Trp)), KMT2D(NM_003482.4):c.14473C>T (p.R4825W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49028051G>A" "" "likely benign" ""
"0000322788" "0" "50" "12" "49422736" "49422736" "subst" "4.06901E-6" "01804" "KMT2D_000601" "g.49422736G>A" "" "" "" "KMT2D(NM_003482.3):c.14257C>T (p.(Pro4753Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49028953G>A" "" "VUS" ""
"0000322789" "0" "30" "12" "49423176" "49423176" "subst" "0" "01804" "KMT2D_000602" "g.49423176G>A" "" "" "" "KMT2D(NM_003482.3):c.14075+8C>T, KMT2D(NM_003482.4):c.14075+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49029393G>A" "" "likely benign" ""
"0000322791" "0" "50" "12" "49424177" "49424177" "subst" "0" "01804" "KMT2D_000604" "g.49424177T>G" "" "" "" "KMT2D(NM_003482.3):c.13885A>C (p.(Thr4629Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030394T>G" "" "VUS" ""
"0000322793" "0" "30" "12" "49425055" "49425055" "subst" "7.32297E-5" "01804" "KMT2D_000609" "g.49425055C>T" "" "" "" "KMT2D(NM_003482.3):c.13433G>A (p.R4478Q), KMT2D(NM_003482.4):c.13433G>A (p.(Arg4478Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49031272C>T" "" "likely benign" ""
"0000322795" "0" "50" "12" "49425626" "49425626" "subst" "4.14925E-5" "01804" "KMT2D_000610" "g.49425626G>A" "" "" "" "KMT2D(NM_003482.3):c.12862C>T (p.R4288W, p.(Arg4288Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49031843G>A" "" "VUS" ""
"0000322797" "0" "50" "12" "49425854" "49425854" "subst" "6.09895E-5" "01804" "KMT2D_000613" "g.49425854G>A" "" "" "" "KMT2D(NM_003482.3):c.12634C>T (p.(Arg4212Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032071G>A" "" "VUS" ""
"0000322799" "0" "50" "12" "49426595" "49426595" "subst" "0" "01804" "KMT2D_000617" "g.49426595G>A" "" "" "" "KMT2D(NM_003482.3):c.11893C>T (p.(Gln3965Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032812G>A" "" "VUS" ""
"0000322802" "0" "50" "12" "49427347" "49427347" "subst" "0.00322029" "01804" "KMT2D_000623" "g.49427347C>T" "" "" "" "KMT2D(NM_003482.3):c.11141G>A (p.(Arg3714Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033564C>T" "" "VUS" ""
"0000322803" "0" "50" "12" "49427485" "49427485" "subst" "4.06961E-6" "01804" "KMT2D_000624" "g.49427485G>T" "" "" "" "KMT2D(NM_003482.3):c.11003C>A (p.(Pro3668His)), KMT2D(NM_003482.4):c.11003C>A (p.P3668H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033702G>T" "" "VUS" ""
"0000322804" "0" "50" "12" "49427664" "49427666" "del" "0" "01804" "KMT2D_000628" "g.49427664_49427666del" "" "" "" "KMT2D(NM_003482.3):c.10827_10829del (p.(Gln3611del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033881_49033883del" "" "VUS" ""
"0000322806" "0" "50" "12" "49428228" "49428228" "subst" "4.88063E-5" "01804" "KMT2D_000629" "g.49428228C>T" "" "" "" "KMT2D(NM_003482.3):c.10472G>A (p.R3491H, p.(Arg3491His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49034445C>T" "" "VUS" ""
"0000322807" "0" "30" "12" "49428694" "49428694" "subst" "0.00159201" "01804" "KMT2D_000630" "g.49428694T>C" "" "" "" "KMT2D(NM_003482.3):c.10256A>G (p.D3419G), KMT2D(NM_003482.4):c.10256A>G (p.(Asp3419Gly), p.D3419G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49034911T>C" "" "likely benign" ""
"0000322808" "0" "30" "12" "49430910" "49430910" "subst" "0" "01804" "KMT2D_000631" "g.49430910G>T" "" "" "" "KMT2D(NM_003482.3):c.10229C>A (p.(Thr3410Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037127G>T" "" "likely benign" ""
"0000322809" "0" "30" "12" "49430947" "49430947" "subst" "0.00875387" "01804" "KMT2D_000032" "g.49430947T>C" "" "" "" "KMT2D(NM_003482.3):c.10192A>G (p.(Met3398Val), p.M3398V), KMT2D(NM_003482.4):c.10192A>G (p.M3398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037164T>C" "" "likely benign" ""
"0000322810" "0" "30" "12" "49431654" "49431654" "subst" "0" "01804" "KMT2D_000636" "g.49431654C>T" "" "" "" "KMT2D(NM_003482.3):c.9485G>A (p.(Gly3162Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037871C>T" "" "likely benign" ""
"0000322811" "0" "50" "12" "49431726" "49431726" "subst" "0" "01804" "KMT2D_000637" "g.49431726G>A" "" "" "" "KMT2D(NM_003482.3):c.9413C>T (p.(Thr3138Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49037943G>A" "" "VUS" ""
"0000322815" "0" "50" "12" "49434099" "49434099" "subst" "0" "01804" "KMT2D_000647" "g.49434099G>C" "" "" "" "KMT2D(NM_003482.3):c.7454C>G (p.(Ala2485Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040316G>C" "" "VUS" ""
"0000322816" "0" "50" "12" "49434337" "49434337" "subst" "4.13151E-6" "01804" "KMT2D_000648" "g.49434337C>T" "" "" "" "KMT2D(NM_003482.3):c.7216G>A (p.(Asp2406Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040554C>T" "" "VUS" ""
"0000322817" "0" "50" "12" "49434555" "49434555" "subst" "8.60169E-5" "01804" "KMT2D_000652" "g.49434555G>A" "" "" "" "KMT2D(NM_003482.3):c.6998C>T (p.(Pro2333Leu)), KMT2D(NM_003482.4):c.6998C>T (p.P2333L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040772G>A" "" "VUS" ""
"0000322819" "0" "50" "12" "49434849" "49434849" "subst" "0.00058566" "01804" "KMT2D_000657" "g.49434849C>T" "" "" "" "KMT2D(NM_003482.3):c.6704G>A (p.(Arg2235Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041066C>T" "" "VUS" ""
"0000322820" "0" "50" "12" "49434870" "49434870" "subst" "0" "01804" "KMT2D_000658" "g.49434870G>A" "" "" "" "KMT2D(NM_003482.3):c.6683C>T (p.(Thr2228Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041087G>A" "" "VUS" ""
"0000322823" "0" "50" "12" "49442543" "49442543" "subst" "0.000188489" "01804" "KMT2D_000670" "g.49442543T>C" "" "" "" "KMT2D(NM_003482.3):c.4030A>G (p.(Ile1344Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49048760T>C" "" "VUS" ""
"0000322824" "0" "30" "12" "49443799" "49443799" "subst" "0.000967377" "01804" "KMT2D_000059" "g.49443799G>A" "" "" "" "KMT2D(NM_003482.3):c.3572C>T (p.P1191L), KMT2D(NM_003482.4):c.3572C>T (p.(Pro1191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49050016G>A" "" "likely benign" ""
"0000322825" "0" "30" "12" "49444581" "49444581" "del" "0" "01804" "KMT2D_000678" "g.49444581del" "" "" "" "KMT2D(NM_003482.3):c.2798-7delC, KMT2D(NM_003482.3):c.2798-7delC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49050798del" "" "likely benign" ""
"0000322826" "0" "50" "12" "49444985" "49444985" "subst" "0" "01804" "KMT2D_000680" "g.49444985T>G" "" "" "" "KMT2D(NM_003482.3):c.2481A>C (p.(Gln827His)), KMT2D(NM_003482.4):c.2481A>C (p.Q827H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051202T>G" "" "VUS" ""
"0000322827" "0" "30" "12" "49445173" "49445199" "del" "0" "01804" "KMT2D_000681" "g.49445173_49445199del" "" "" "" "KMT2D(NM_003482.3):c.2283_2309del (p.(Pro763_Ser771del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051390_49051416del" "" "likely benign" ""
"0000322828" "0" "50" "12" "49445244" "49445244" "subst" "5.36999E-5" "01804" "KMT2D_000682" "g.49445244G>A" "" "" "" "KMT2D(NM_003482.3):c.2222C>T (p.(Pro741Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051461G>A" "" "VUS" ""
"0000322829" "0" "30" "12" "49445392" "49445392" "subst" "0.00349459" "01804" "KMT2D_000683" "g.49445392G>T" "" "" "" "KMT2D(NM_003482.3):c.2074C>A (p.P692T, p.(Pro692Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051609G>T" "" "likely benign" ""
"0000322830" "0" "50" "12" "49445410" "49445410" "subst" "4.60554E-6" "01804" "KMT2D_000684" "g.49445410C>T" "" "" "" "KMT2D(NM_003482.3):c.2056G>A (p.(Ala686Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051627C>T" "" "VUS" ""
"0000322831" "0" "50" "12" "49445536" "49445536" "subst" "0" "01804" "KMT2D_000687" "g.49445536T>G" "" "" "" "KMT2D(NM_003482.3):c.1930A>C (p.(Met644Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49051753T>G" "" "VUS" ""
"0000322832" "0" "30" "12" "49446088" "49446088" "subst" "0.000110648" "01804" "KMT2D_000693" "g.49446088G>T" "" "" "" "KMT2D(NM_003482.3):c.1378C>A (p.P460T), KMT2D(NM_003482.4):c.1378C>A (p.(Pro460Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052305G>T" "" "likely benign" ""
"0000322833" "0" "30" "12" "49446490" "49446490" "subst" "0.000648096" "01804" "KMT2D_000696" "g.49446490A>T" "" "" "" "KMT2D(NM_003482.3):c.1115T>A (p.(Phe372Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052707A>T" "" "likely benign" ""
"0000322834" "0" "30" "12" "49446768" "49446768" "subst" "4.87329E-5" "01804" "KMT2D_000697" "g.49446768G>A" "" "" "" "KMT2D(NM_003482.3):c.1042C>T (p.R348C), KMT2D(NM_003482.4):c.1042C>T (p.(Arg348Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052985G>A" "" "likely benign" ""
"0000322835" "0" "30" "12" "49446800" "49446800" "subst" "3.24907E-5" "01804" "KMT2D_000515" "g.49446800G>A" "" "" "" "KMT2D(NM_003482.3):c.1010C>T (p.S337L, p.(Ser337Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49053017G>A" "" "likely benign" ""
"0000338329" "0" "90" "12" "49438753" "49438753" "subst" "0" "02327" "KMT2D_000712" "g.49438753A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49044970A>C" "" "pathogenic" ""
"0000338330" "0" "90" "12" "49439702" "49439702" "subst" "0" "02327" "KMT2D_000713" "g.49439702C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49045919C>G" "" "pathogenic" ""
"0000339018" "0" "90" "12" "49433388" "49433388" "subst" "0" "02327" "KMT2D_000363" "g.49433388G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49039605G>A" "" "pathogenic" ""
"0000341355" "0" "50" "12" "49432134" "49432134" "subst" "0" "02327" "KMT2D_000707" "g.49432134G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49038351G>T" "" "VUS" ""
"0000342377" "0" "90" "12" "49434325" "49434325" "subst" "0" "02327" "KMT2D_000376" "g.49434325G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040542G>A" "" "pathogenic" ""
"0000342712" "0" "50" "12" "49427975" "49427975" "subst" "0" "02327" "KMT2D_000706" "g.49427975G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49034192G>C" "" "VUS" ""
"0000342753" "0" "90" "12" "49427369" "49427369" "subst" "0" "02327" "KMT2D_000021" "g.49427369G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033586G>A" "" "pathogenic" ""
"0000342996" "0" "30" "12" "49421038" "49421038" "subst" "0" "02327" "KMT2D_000702" "g.49421038C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49027255C>T" "" "likely benign" ""
"0000342997" "0" "90" "12" "49421039" "49421039" "subst" "0" "02327" "KMT2D_000201" "g.49421039G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49027256G>A" "" "pathogenic" ""
"0000343029" "0" "90" "12" "49420607" "49420607" "subst" "4.0699E-6" "02327" "KMT2D_000181" "g.49420607G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49026824G>A" "" "pathogenic" ""
"0000343051" "0" "90" "12" "49420108" "49420108" "subst" "0" "02327" "KMT2D_000145" "g.49420108C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49026325C>T" "" "pathogenic" ""
"0000343079" "0" "90" "12" "49416417" "49416417" "subst" "0" "02327" "KMT2D_000121" "g.49416417G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49022634G>A" "" "pathogenic" ""
"0000343412" "0" "10" "12" "49448463" "49448463" "subst" "0.0260112" "02327" "KMT2D_000105" "g.49448463C>T" "" "" "" "KMT2D(NM_003482.3):c.248G>A (p.R83Q, p.(Arg83Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49054680C>T" "" "benign" ""
"0000343983" "0" "50" "12" "49435955" "49435955" "subst" "0" "02327" "KMT2D_000710" "g.49435955T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49042172T>C" "" "VUS" ""
"0000344810" "0" "90" "12" "49426781" "49426781" "subst" "0" "02327" "KMT2D_000290" "g.49426781G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032998G>A" "" "pathogenic" ""
"0000345476" "0" "90" "12" "49416438" "49416438" "subst" "0" "02327" "KMT2D_000053" "g.49416438C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49022655C>T" "" "pathogenic" ""
"0000347146" "0" "50" "12" "49426433" "49426433" "subst" "0" "02327" "KMT2D_000705" "g.49426433G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032650G>A" "" "VUS" ""
"0000347212" "0" "10" "12" "49418435" "49418435" "subst" "0.0269803" "02327" "KMT2D_000112" "g.49418435A>C" "" "" "" "KMT2D(NM_003482.3):c.15978T>G (p.(Leu5326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49024652A>C" "" "benign" ""
"0000348320" "0" "10" "12" "49433883" "49433883" "subst" "0.00827137" "02327" "KMT2D_000645" "g.49433883G>A" "" "" "" "KMT2D(NM_003482.3):c.7670C>T (p.P2557L, p.(Pro2557Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040100G>A" "" "benign" ""
"0000348399" "0" "10" "12" "49427919" "49427919" "subst" "0.0461502" "02327" "KMT2D_000087" "g.49427919T>C" "" "" "" "KMT2D(NM_003482.4):c.10671A>G (p.(Pro3557=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49034136T>C" "" "benign" ""
"0000348416" "0" "10" "12" "49427108" "49427108" "subst" "0.000625616" "02327" "KMT2D_000621" "g.49427108G>A" "" "" "" "KMT2D(NM_003482.3):c.11380C>T (p.P3794S), KMT2D(NM_003482.4):c.11380C>T (p.(Pro3794Ser), p.P3794S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49033325G>A" "" "benign" ""
"0000348458" "0" "10" "12" "49424534" "49424534" "subst" "0.10217" "02327" "KMT2D_000107" "g.49424534G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49030751G>A" "" "benign" ""
"0000348985" "0" "10" "12" "49426460" "49426460" "subst" "0.0263664" "02327" "KMT2D_000081" "g.49426460A>G" "" "" "" "KMT2D(NM_003482.3):c.12028T>C (p.S4010P, p.(Ser4010Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49032677A>G" "" "benign" ""
"0000349925" "0" "90" "12" "49440141" "49440141" "subst" "4.06167E-6" "02327" "KMT2D_000714" "g.49440141G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49046358G>T" "" "pathogenic" ""
"0000349926" "0" "90" "12" "49440141" "49440141" "subst" "0" "02327" "KMT2D_000715" "g.49440141G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49046358G>C" "" "pathogenic" ""
"0000349984" "0" "90" "12" "49434965" "49434965" "subst" "0" "02327" "KMT2D_000709" "g.49434965A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49041182A>T" "" "pathogenic" ""
"0000351251" "0" "90" "12" "49421930" "49421930" "subst" "0" "02327" "KMT2D_000703" "g.49421930A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49028147A>T" "" "pathogenic" ""
"0000351253" "0" "10" "12" "49434409" "49434409" "subst" "0.0120309" "02327" "KMT2D_000650" "g.49434409G>A" "" "" "" "(p.Pro2382Ser), KMT2D(NM_003482.3):c.7144C>T (p.(Pro2382Ser), p.P2382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49040626G>A" "" "benign" ""
"0000351254" "0" "10" "12" "49437399" "49437399" "subst" "0.0259888" "02327" "KMT2D_000092" "g.49437399T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49043616T>G" "" "benign" ""
"0000351255" "0" "70" "12" "49446342" "49446342" "subst" "0" "02327" "KMT2D_000695" "g.49446342C>T" "" "" "" "KMT2D(NM_003482.4):c.1258+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.49052559C>T" "" "likely pathogenic" ""
"0000394439" "0" "70" "12" "49447924" "49447924" "subst" "0" "02541" "KMT2D_000720" "g.49447924C>T" "" "{PMID:de Billy 2019:30569626}" "" "" "" "De novo" "" "" "0" "" "" "g.49054141C>T" "" "pathogenic (dominant)" ""
"0000408751" "0" "90" "12" "49434958" "49434958" "del" "0" "00006" "KMT2D_000388" "g.49434958del" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "6595_6595delT" "" "De novo" "" "" "0" "" "" "g.49041175del" "" "pathogenic (dominant)" ""
"0000408769" "0" "90" "12" "49445936" "49445936" "del" "0" "00006" "KMT2D_000721" "g.49445936del" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "1530_1530delA" "" "De novo" "" "" "0" "" "" "g.49052153del" "" "pathogenic (dominant)" ""
"0000408775" "0" "90" "12" "49431178" "49431178" "subst" "0" "00006" "KMT2D_000015" "g.49431178G>A" "" "{PMID:Martinez 2017:27620904}, {DOI:Martinez 2017:10.1136/jmedgenet-2017-103964}" "" "" "" "De novo" "" "" "0" "" "" "g.49037395G>A" "" "pathogenic (dominant)" ""
"0000438221" "0" "70" "12" "49435941" "49435941" "subst" "0" "03112" "KMT2D_000722" "g.49435941G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.49042158G>A" "" "likely pathogenic" ""
"0000439021" "0" "90" "12" "49416133" "49416133" "subst" "0" "03117" "KMT2D_000543" "g.49416133G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022350G>A" "" "pathogenic" ""
"0000439022" "0" "90" "12" "49416133" "49416133" "subst" "0" "03117" "KMT2D_000543" "g.49416133G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022350G>A" "" "pathogenic" ""
"0000439023" "0" "90" "12" "49434079" "49434079" "del" "0" "03117" "KMT2D_000370" "g.49434079del" "" "" "" "7479delG" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49040296del" "" "pathogenic" ""
"0000439024" "0" "90" "12" "49441848" "49441849" "del" "0" "03117" "KMT2D_000062" "g.49441848_49441849del" "" "" "" "4135_4136delAT" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic" ""
"0000439025" "0" "70" "12" "49420646" "49420646" "subst" "0" "03117" "KMT2D_000723" "g.49420646A>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.49026863A>G" "" "pathogenic" ""
"0000458844" "1" "50" "12" "49447776" "49447776" "subst" "4.06428E-6" "00006" "KMT2D_000724" "g.49447776C>T" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.49053993C>T" "" "VUS" ""
"0000458845" "2" "50" "12" "49431094" "49431094" "subst" "0.00272019" "00006" "KMT2D_000632" "g.49431094T>C" "" "{DOI:Reynhout 2019:10.1016/j.ajhg.2019.01.009}" "" "" "" "Germline" "" "" "0" "" "" "g.49037311T>C" "" "VUS" ""
"0000548250" "0" "30" "12" "49415578" "49415578" "subst" "0.000762695" "01943" "PRKAG1_000002" "g.49415578C>T" "" "" "" "KMT2D(NM_003482.3):c.16599G>A (p.R5533=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49021795C>T" "" "likely benign" ""
"0000548251" "0" "90" "12" "49415908" "49415911" "del" "0" "02327" "KMT2D_000546" "g.49415908_49415911del" "" "" "" "KMT2D(NM_003482.4):c.16438_16441delAACT (p.N5480Vfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49022125_49022128del" "" "pathogenic" ""
"0000548252" "0" "90" "12" "49418394" "49418394" "subst" "0" "02327" "KMT2D_000132" "g.49418394C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49024611C>T" "" "pathogenic" ""
"0000548253" "0" "30" "12" "49419982" "49419982" "subst" "4.22744E-6" "01804" "KMT2D_000725" "g.49419982G>C" "" "" "" "KMT2D(NM_003482.3):c.15767C>G (p.(Thr5256Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026199G>C" "" "likely benign" ""
"0000548255" "0" "90" "12" "49420109" "49420109" "subst" "0" "02327" "KMT2D_000146" "g.49420109G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026326G>A" "" "pathogenic" ""
"0000548256" "0" "30" "12" "49420110" "49420110" "subst" "2.43738E-5" "01943" "KMT2D_000727" "g.49420110C>T" "" "" "" "KMT2D(NM_003482.3):c.15639G>A (p.T5213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026327C>T" "" "likely benign" ""
"0000548257" "0" "30" "12" "49420745" "49420745" "subst" "3.65634E-5" "01943" "KMT2D_000728" "g.49420745G>A" "" "" "" "KMT2D(NM_003482.3):c.15004C>T (p.R5002W, p.(Arg5002Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026962G>A" "" "likely benign" ""
"0000548259" "0" "30" "12" "49421000" "49421000" "dup" "0" "01804" "KMT2D_000730" "g.49421000dup" "" "" "" "KMT2D(NM_003482.3):c.14753dupC (p.(Ser4919PhefsTer13))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49027217dup" "" "likely benign" ""
"0000548260" "0" "50" "12" "49421811" "49421811" "subst" "5.2852E-5" "01943" "KMT2D_000731" "g.49421811C>A" "" "" "" "KMT2D(NM_003482.3):c.14496G>T (p.K4832N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49028028C>A" "" "VUS" ""
"0000548261" "0" "70" "12" "49422606" "49422606" "subst" "0" "01804" "KMT2D_000732" "g.49422606C>T" "" "" "" "KMT2D(NM_003482.3):c.14382+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49028823C>T" "" "likely pathogenic" ""
"0000548262" "0" "30" "12" "49422893" "49422893" "subst" "0.000432032" "02326" "KMT2D_000733" "g.49422893G>A" "" "" "" "KMT2D(NM_003482.3):c.14202C>T (p.D4734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49029110G>A" "" "likely benign" ""
"0000548263" "0" "30" "12" "49422898" "49422898" "subst" "1.62856E-5" "01943" "KMT2D_000734" "g.49422898C>T" "" "" "" "KMT2D(NM_003482.3):c.14197G>A (p.E4733K, p.(Glu4733Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49029115C>T" "" "likely benign" ""
"0000548264" "0" "50" "12" "49422934" "49422934" "subst" "3.25174E-5" "01943" "KMT2D_000735" "g.49422934G>A" "" "" "" "KMT2D(NM_003482.3):c.14161C>T (p.R4721C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49029151G>A" "" "VUS" ""
"0000548266" "0" "30" "12" "49425443" "49425443" "subst" "0.00104001" "01804" "KMT2D_000737" "g.49425443G>C" "" "" "" "KMT2D(NM_003482.3):c.13045C>G (p.(Pro4349Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49031660G>C" "" "likely benign" ""
"0000548267" "0" "30" "12" "49425626" "49425626" "subst" "4.14925E-5" "01943" "KMT2D_000610" "g.49425626G>A" "" "" "" "KMT2D(NM_003482.3):c.12862C>T (p.R4288W, p.(Arg4288Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49031843G>A" "" "likely benign" ""
"0000548268" "0" "50" "12" "49425640" "49425640" "subst" "5.37744E-5" "01943" "KMT2D_000738" "g.49425640G>A" "" "" "" "KMT2D(NM_003482.3):c.12848C>T (p.P4283L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49031857G>A" "" "VUS" ""
"0000548269" "0" "30" "12" "49425806" "49425806" "subst" "7.37699E-5" "01943" "KMT2D_000739" "g.49425806G>C" "" "" "" "KMT2D(NM_003482.3):c.12682C>G (p.Q4228E, p.(Gln4228Glu)), KMT2D(NM_003482.4):c.12682C>G (p.Q4228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032023G>C" "" "likely benign" ""
"0000548270" "0" "50" "12" "49425806" "49425806" "subst" "7.37699E-5" "01804" "KMT2D_000739" "g.49425806G>C" "" "" "" "KMT2D(NM_003482.3):c.12682C>G (p.Q4228E, p.(Gln4228Glu)), KMT2D(NM_003482.4):c.12682C>G (p.Q4228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032023G>C" "" "VUS" ""
"0000548271" "0" "50" "12" "49425837" "49425839" "dup" "0" "01943" "KMT2D_000740" "g.49425837_49425839dup" "" "" "" "KMT2D(NM_003482.3):c.12662_12664dupAGC (p.(Gln4221dup)), KMT2D(NM_003482.3):c.12662_12664dupAGC (p.Q4221dup), KMT2D(NM_003482.4):c.12662_12664dupAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032054_49032056dup" "" "VUS" ""
"0000548272" "0" "50" "12" "49425850" "49425850" "subst" "0" "01804" "KMT2D_000741" "g.49425850T>C" "" "" "" "KMT2D(NM_003482.3):c.12638A>G (p.(His4213Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032067T>C" "" "VUS" ""
"0000548273" "0" "50" "12" "49425943" "49425943" "subst" "0" "01804" "KMT2D_000742" "g.49425943C>A" "" "" "" "KMT2D(NM_003482.3):c.12545G>T (p.(Gly4182Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032160C>A" "" "VUS" ""
"0000548274" "0" "30" "12" "49426298" "49426298" "subst" "4.89793E-6" "01804" "KMT2D_000743" "g.49426298C>T" "" "" "" "KMT2D(NM_003482.3):c.12190G>A (p.(Glu4064Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032515C>T" "" "likely benign" ""
"0000548275" "0" "30" "12" "49426404" "49426404" "subst" "0.00119075" "01943" "KMT2D_000744" "g.49426404G>A" "" "" "" "KMT2D(NM_003482.3):c.12084C>T (p.T4028=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032621G>A" "" "likely benign" ""
"0000548276" "0" "30" "12" "49426460" "49426460" "subst" "0.0263664" "01804" "KMT2D_000081" "g.49426460A>G" "" "" "" "KMT2D(NM_003482.3):c.12028T>C (p.S4010P, p.(Ser4010Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032677A>G" "" "likely benign" ""
"0000548277" "0" "90" "12" "49426544" "49426544" "subst" "0" "01804" "KMT2D_000271" "g.49426544G>A" "" "" "" "KMT2D(NM_003482.3):c.11944C>T (p.(Arg3982Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032761G>A" "" "pathogenic" ""
"0000548280" "0" "30" "12" "49426743" "49426751" "del" "0" "01804" "KMT2D_000747" "g.49426743_49426751del" "" "" "" "KMT2D(NM_003482.3):c.11750_11758del (p.(Gln3917_Gln3919del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032960_49032968del" "" "likely benign" ""
"0000548282" "0" "50" "12" "49426782" "49426787" "dup" "0" "01943" "KMT2D_000749" "g.49426782_49426787dup" "" "" "" "KMT2D(NM_003482.3):c.11711_11716dupAGCAGC (p.Q3904_Q3905dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032999_49033004dup" "" "VUS" ""
"0000548283" "0" "30" "12" "49426878" "49426878" "subst" "0.00314082" "01804" "KMT2D_000750" "g.49426878C>T" "" "" "" "KMT2D(NM_003482.4):c.11610G>A (p.(Met3870Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033095C>T" "" "likely benign" ""
"0000548284" "0" "30" "12" "49426950" "49426950" "subst" "0" "01943" "KMT2D_000751" "g.49426950G>A" "" "" "" "KMT2D(NM_003482.3):c.11538C>T (p.G3846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033167G>A" "" "likely benign" ""
"0000548285" "0" "30" "12" "49427284" "49427286" "dup" "0" "02325" "KMT2D_000752" "g.49427284_49427286dup" "" "" "" "KMT2D(NM_003482.3):c.11220_11222dup (p.(Gln3745dup)), KMT2D(NM_003482.3):c.11220_11222dupGCA (p.Q3745dup), KMT2D(NM_003482.4):c.11220_11222dupGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033501_49033503dup" "" "likely benign" ""
"0000548286" "0" "30" "12" "49427284" "49427286" "dup" "0" "02326" "KMT2D_000752" "g.49427284_49427286dup" "" "" "" "KMT2D(NM_003482.3):c.11220_11222dup (p.(Gln3745dup)), KMT2D(NM_003482.3):c.11220_11222dupGCA (p.Q3745dup), KMT2D(NM_003482.4):c.11220_11222dupGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033501_49033503dup" "" "likely benign" ""
"0000548287" "0" "30" "12" "49427495" "49427495" "subst" "0.00138" "01943" "KMT2D_000085" "g.49427495G>C" "" "" "" "KMT2D(NM_003482.3):c.10993C>G (p.P3665A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033712G>C" "" "likely benign" ""
"0000548288" "0" "50" "12" "49427612" "49427612" "subst" "0" "01943" "KMT2D_000753" "g.49427612G>A" "" "" "" "KMT2D(NM_003482.3):c.10876C>T (p.R3626W), KMT2D(NM_003482.4):c.10876C>T (p.R3626W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033829G>A" "" "VUS" ""
"0000548291" "0" "30" "12" "49427675" "49427695" "dup" "0" "01943" "KMT2D_000755" "g.49427675_49427695dup" "" "" "" "KMT2D(NM_003482.3):c.10812_10832dupGCAGCAGCAGCAACAACAGCA (p.Q3606_Q3612dup), KMT2D(NM_003482.4):c.10812_10832dupGCAGCAGCAGCAACAACAGCA (p.Q3606_Q36...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033892_49033912dup" "" "likely benign" ""
"0000548292" "0" "50" "12" "49427675" "49427695" "dup" "0" "02325" "KMT2D_000755" "g.49427675_49427695dup" "" "" "" "KMT2D(NM_003482.3):c.10812_10832dupGCAGCAGCAGCAACAACAGCA (p.Q3606_Q3612dup), KMT2D(NM_003482.4):c.10812_10832dupGCAGCAGCAGCAACAACAGCA (p.Q3606_Q36...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033892_49033912dup" "" "VUS" ""
"0000548293" "0" "30" "12" "49427675" "49427695" "dup" "0" "02326" "KMT2D_000755" "g.49427675_49427695dup" "" "" "" "KMT2D(NM_003482.3):c.10812_10832dupGCAGCAGCAGCAACAACAGCA (p.Q3606_Q3612dup), KMT2D(NM_003482.4):c.10812_10832dupGCAGCAGCAGCAACAACAGCA (p.Q3606_Q36...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033892_49033912dup" "" "likely benign" ""
"0000548294" "0" "50" "12" "49427722" "49427722" "subst" "0" "01943" "KMT2D_000756" "g.49427722G>C" "" "" "" "KMT2D(NM_003482.3):c.10766C>G (p.T3589S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49033939G>C" "" "VUS" ""
"0000548297" "0" "30" "12" "49428268" "49428268" "subst" "0.00108471" "01943" "KMT2D_000758" "g.49428268A>T" "" "" "" "KMT2D(NM_003482.3):c.10441-9T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49034485A>T" "" "likely benign" ""
"0000548298" "0" "30" "12" "49428694" "49428694" "subst" "0.00159201" "01943" "KMT2D_000630" "g.49428694T>C" "" "" "" "KMT2D(NM_003482.3):c.10256A>G (p.D3419G), KMT2D(NM_003482.4):c.10256A>G (p.(Asp3419Gly), p.D3419G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49034911T>C" "" "likely benign" ""
"0000548299" "0" "30" "12" "49428694" "49428694" "subst" "0.00159201" "02325" "KMT2D_000630" "g.49428694T>C" "" "" "" "KMT2D(NM_003482.3):c.10256A>G (p.D3419G), KMT2D(NM_003482.4):c.10256A>G (p.(Asp3419Gly), p.D3419G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49034911T>C" "" "likely benign" ""
"0000548300" "0" "30" "12" "49428709" "49428709" "subst" "7.71661E-5" "01943" "KMT2D_000759" "g.49428709T>C" "" "" "" "KMT2D(NM_003482.3):c.10241A>G (p.K3414R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49034926T>C" "" "likely benign" ""
"0000548301" "0" "30" "12" "49428717" "49428717" "subst" "0.000930108" "01943" "KMT2D_000760" "g.49428717G>A" "" "" "" "KMT2D(NM_003482.3):c.10233C>T (p.D3411=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49034934G>A" "" "likely benign" ""
"0000548302" "0" "30" "12" "49430911" "49430911" "subst" "0" "01804" "KMT2D_000761" "g.49430911T>C" "" "" "" "KMT2D(NM_003482.3):c.10228A>G (p.(Thr3410Ala)), KMT2D(NM_003482.4):c.10228A>G (p.T3410A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037128T>C" "" "likely benign" ""
"0000548303" "0" "50" "12" "49430925" "49430925" "subst" "1.3293E-5" "01804" "KMT2D_000762" "g.49430925C>G" "" "" "" "KMT2D(NM_003482.3):c.10214G>C (p.(Ser3405Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037142C>G" "" "VUS" ""
"0000548304" "0" "30" "12" "49430989" "49430989" "subst" "4.89428E-5" "01943" "KMT2D_000763" "g.49430989T>A" "" "" "" "KMT2D(NM_003482.3):c.10150A>T (p.T3384S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037206T>A" "" "likely benign" ""
"0000548305" "0" "30" "12" "49431638" "49431638" "subst" "0" "01943" "KMT2D_000764" "g.49431638C>T" "" "" "" "KMT2D(NM_003482.3):c.9501G>A (p.R3167=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037855C>T" "" "likely benign" ""
"0000548306" "0" "50" "12" "49431743" "49431743" "subst" "0" "01943" "KMT2D_000765" "g.49431743G>C" "" "" "" "KMT2D(NM_003482.3):c.9396C>G (p.C3132W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037960G>C" "" "VUS" ""
"0000548307" "0" "30" "12" "49432105" "49432105" "subst" "0.000113738" "02326" "KMT2D_000766" "g.49432105G>A" "" "" "" "KMT2D(NM_003482.3):c.9034C>T (p.L3012=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038322G>A" "" "likely benign" ""
"0000548308" "0" "30" "12" "49432273" "49432273" "subst" "1.64811E-5" "01943" "KMT2D_000767" "g.49432273T>C" "" "" "" "KMT2D(NM_003482.3):c.8866A>G (p.T2956A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038490T>C" "" "likely benign" ""
"0000548309" "0" "30" "12" "49432512" "49432512" "subst" "8.53534E-6" "01943" "KMT2D_000768" "g.49432512T>G" "" "" "" "KMT2D(NM_003482.3):c.8627A>C (p.Q2876P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038729T>G" "" "likely benign" ""
"0000548311" "0" "90" "12" "49432651" "49432651" "subst" "0" "01943" "KMT2D_000351" "g.49432651G>A" "" "" "" "KMT2D(NM_003482.3):c.8488C>T (p.R2830*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038868G>A" "" "pathogenic" ""
"0000548312" "0" "30" "12" "49433379" "49433379" "subst" "0.000177608" "01943" "KMT2D_000770" "g.49433379G>A" "" "" "" "KMT2D(NM_003482.3):c.8068C>T (p.L2690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49039596G>A" "" "likely benign" ""
"0000548313" "0" "30" "12" "49433379" "49433379" "subst" "0.000177608" "02326" "KMT2D_000770" "g.49433379G>A" "" "" "" "KMT2D(NM_003482.3):c.8068C>T (p.L2690=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49039596G>A" "" "likely benign" ""
"0000548315" "0" "30" "12" "49433649" "49433649" "subst" "0.000199017" "01943" "KMT2D_000771" "g.49433649C>T" "" "" "" "KMT2D(NM_003482.3):c.7904G>A (p.R2635Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49039866C>T" "" "likely benign" ""
"0000548316" "0" "30" "12" "49433649" "49433649" "subst" "0.000199017" "02326" "KMT2D_000771" "g.49433649C>T" "" "" "" "KMT2D(NM_003482.3):c.7904G>A (p.R2635Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49039866C>T" "" "likely benign" ""
"0000548317" "0" "50" "12" "49433905" "49433905" "subst" "0" "02325" "KMT2D_000772" "g.49433905G>A" "" "" "" "KMT2D(NM_003482.4):c.7648C>T (p.P2550S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040122G>A" "" "VUS" ""
"0000548319" "0" "30" "12" "49433950" "49433950" "subst" "9.78194E-5" "01804" "KMT2D_000774" "g.49433950G>A" "" "" "" "KMT2D(NM_003482.3):c.7603C>T (p.R2535C, p.(Arg2535Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040167G>A" "" "likely benign" ""
"0000548320" "0" "30" "12" "49434003" "49434003" "subst" "1.23498E-5" "01943" "KMT2D_000775" "g.49434003T>C" "" "" "" "KMT2D(NM_003482.3):c.7550A>G (p.N2517S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040220T>C" "" "likely benign" ""
"0000548321" "0" "50" "12" "49434034" "49434034" "subst" "0" "01943" "KMT2D_000776" "g.49434034G>T" "" "" "" "KMT2D(NM_003482.3):c.7519C>A (p.H2507N), KMT2D(NM_003482.4):c.7519C>A (p.H2507N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040251G>T" "" "VUS" ""
"0000548322" "0" "50" "12" "49434034" "49434034" "subst" "0" "02325" "KMT2D_000776" "g.49434034G>T" "" "" "" "KMT2D(NM_003482.3):c.7519C>A (p.H2507N), KMT2D(NM_003482.4):c.7519C>A (p.H2507N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040251G>T" "" "VUS" ""
"0000548323" "0" "30" "12" "49434054" "49434054" "subst" "0" "01943" "KMT2D_000777" "g.49434054G>C" "" "" "" "KMT2D(NM_003482.3):c.7499C>G (p.A2500G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040271G>C" "" "likely benign" ""
"0000548324" "0" "50" "12" "49434198" "49434198" "subst" "0" "02325" "KMT2D_000778" "g.49434198C>G" "" "" "" "KMT2D(NM_003482.4):c.7355G>C (p.R2452P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040415C>G" "" "VUS" ""
"0000548325" "0" "30" "12" "49434355" "49434355" "subst" "7.78548E-5" "01804" "KMT2D_000779" "g.49434355G>C" "" "" "" "KMT2D(NM_003482.3):c.7198C>G (p.(Pro2400Ala)), KMT2D(NM_003482.4):c.7198C>G (p.P2400A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040572G>C" "" "likely benign" ""
"0000548326" "0" "10" "12" "49434409" "49434409" "subst" "0.0120309" "01804" "KMT2D_000650" "g.49434409G>A" "" "" "" "(p.Pro2382Ser), KMT2D(NM_003482.3):c.7144C>T (p.(Pro2382Ser), p.P2382S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040626G>A" "" "benign" ""
"0000548329" "0" "30" "12" "49434742" "49434742" "subst" "0.000497652" "01943" "KMT2D_000031" "g.49434742G>A" "" "" "" "KMT2D(NM_003482.3):c.6811C>T (p.P2271S, p.(Pro2271Ser)), KMT2D(NM_003482.4):c.6811C>T (p.P2271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040959G>A" "" "likely benign" ""
"0000548330" "0" "50" "12" "49434742" "49434742" "subst" "0.000497652" "01804" "KMT2D_000031" "g.49434742G>A" "" "" "" "KMT2D(NM_003482.3):c.6811C>T (p.P2271S, p.(Pro2271Ser)), KMT2D(NM_003482.4):c.6811C>T (p.P2271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040959G>A" "" "VUS" ""
"0000548331" "0" "30" "12" "49434742" "49434742" "subst" "0.000497652" "02325" "KMT2D_000031" "g.49434742G>A" "" "" "" "KMT2D(NM_003482.3):c.6811C>T (p.P2271S, p.(Pro2271Ser)), KMT2D(NM_003482.4):c.6811C>T (p.P2271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040959G>A" "" "likely benign" ""
"0000548332" "0" "10" "12" "49434742" "49434742" "subst" "0.000497652" "02326" "KMT2D_000031" "g.49434742G>A" "" "" "" "KMT2D(NM_003482.3):c.6811C>T (p.P2271S, p.(Pro2271Ser)), KMT2D(NM_003482.4):c.6811C>T (p.P2271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040959G>A" "" "benign" ""
"0000548334" "0" "30" "12" "49434903" "49434903" "subst" "1.15814E-5" "01804" "KMT2D_000781" "g.49434903C>T" "" "" "" "KMT2D(NM_003482.3):c.6650G>A (p.(Arg2217His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041120C>T" "" "likely benign" ""
"0000548335" "0" "30" "12" "49435056" "49435056" "subst" "3.40025E-5" "01804" "KMT2D_000782" "g.49435056T>C" "" "" "" "KMT2D(NM_003482.3):c.6497A>G (p.(Gln2166Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041273T>C" "" "likely benign" ""
"0000548336" "0" "50" "12" "49435059" "49435059" "subst" "0" "02327" "KMT2D_000783" "g.49435059G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041276G>A" "" "VUS" ""
"0000548337" "0" "50" "12" "49435083" "49435083" "subst" "0" "01943" "KMT2D_000784" "g.49435083C>A" "" "" "" "KMT2D(NM_003482.3):c.6470G>T (p.G2157V, p.(Gly2157Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041300C>A" "" "VUS" ""
"0000548338" "0" "30" "12" "49435083" "49435083" "subst" "0" "01804" "KMT2D_000784" "g.49435083C>A" "" "" "" "KMT2D(NM_003482.3):c.6470G>T (p.G2157V, p.(Gly2157Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041300C>A" "" "likely benign" ""
"0000548339" "0" "30" "12" "49435089" "49435089" "subst" "2.63755E-5" "01943" "KMT2D_000785" "g.49435089G>A" "" "" "" "KMT2D(NM_003482.3):c.6464C>T (p.S2155L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041306G>A" "" "likely benign" ""
"0000548340" "0" "30" "12" "49435133" "49435133" "subst" "6.91533E-5" "01943" "KMT2D_000786" "g.49435133G>A" "" "" "" "KMT2D(NM_003482.3):c.6420C>T (p.D2140=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041350G>A" "" "likely benign" ""
"0000548341" "0" "30" "12" "49435160" "49435160" "subst" "4.54203E-6" "01943" "KMT2D_000787" "g.49435160G>C" "" "" "" "KMT2D(NM_003482.3):c.6393C>G (p.T2131=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041377G>C" "" "likely benign" ""
"0000548342" "0" "50" "12" "49435240" "49435240" "subst" "4.11286E-6" "01943" "KMT2D_000788" "g.49435240G>A" "" "" "" "KMT2D(NM_003482.3):c.6313C>T (p.R2105C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041457G>A" "" "VUS" ""
"0000548343" "0" "90" "12" "49435488" "49435488" "subst" "0" "02327" "KMT2D_000789" "g.49435488G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041705G>A" "" "pathogenic" ""
"0000548344" "0" "30" "12" "49436390" "49436390" "subst" "8.13048E-5" "01943" "KMT2D_000790" "g.49436390T>C" "" "" "" "KMT2D(NM_003482.3):c.5821A>G (p.M1941V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49042607T>C" "" "likely benign" ""
"0000548347" "0" "30" "12" "49437153" "49437153" "subst" "0.000150273" "01943" "KMT2D_000792" "g.49437153A>G" "" "" "" "KMT2D(NM_003482.3):c.5526T>C (p.D1842=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49043370A>G" "" "likely benign" ""
"0000548349" "0" "50" "12" "49437463" "49437463" "subst" "0" "02327" "KMT2D_000794" "g.49437463C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49043680C>G" "" "VUS" ""
"0000548350" "0" "50" "12" "49437532" "49437532" "subst" "0" "02327" "KMT2D_000795" "g.49437532T>C" "" "" "" "KMT2D(NM_003482.4):c.5353A>G (p.(Ser1785Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49043749T>C" "" "VUS" ""
"0000548352" "0" "30" "12" "49437785" "49437785" "subst" "2.43976E-5" "02326" "KMT2D_000797" "g.49437785T>C" "" "" "" "KMT2D(NM_003482.3):c.5189-4A>G, KMT2D(NM_003482.4):c.5189-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49044002T>C" "" "likely benign" ""
"0000548353" "0" "10" "12" "49438253" "49438253" "subst" "0.00201023" "01943" "KMT2D_000798" "g.49438253A>G" "" "" "" "KMT2D(NM_003482.3):c.5016T>C (p.P1672=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49044470A>G" "" "benign" ""
"0000548354" "0" "30" "12" "49439749" "49439749" "subst" "3.65649E-5" "01943" "KMT2D_000799" "g.49439749C>T" "" "" "" "KMT2D(NM_003482.3):c.4695G>A (p.A1565=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49045966C>T" "" "likely benign" ""
"0000548355" "0" "30" "12" "49439754" "49439754" "subst" "4.87492E-5" "01804" "KMT2D_000800" "g.49439754T>C" "" "" "" "KMT2D(NM_003482.3):c.4694-4A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49045971T>C" "" "likely benign" ""
"0000548356" "0" "70" "12" "49440062" "49440062" "subst" "0" "01804" "KMT2D_000801" "g.49440062G>A" "" "" "" "KMT2D(NM_003482.3):c.4564C>T (p.(Gln1522Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49046279G>A" "" "likely pathogenic" ""
"0000548357" "0" "70" "12" "49440388" "49440388" "subst" "0" "02325" "KMT2D_000802" "g.49440388T>C" "" "" "" "KMT2D(NM_003482.4):c.4418+4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49046605T>C" "" "likely pathogenic" ""
"0000548358" "0" "30" "12" "49440418" "49440418" "subst" "4.07714E-5" "02326" "KMT2D_000803" "g.49440418G>T" "" "" "" "KMT2D(NM_003482.3):c.4392C>A (p.V1464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49046635G>T" "" "likely benign" ""
"0000548359" "0" "30" "12" "49440421" "49440421" "subst" "0.000114129" "01943" "KMT2D_000804" "g.49440421G>A" "" "" "" "KMT2D(NM_003482.3):c.4389C>T (p.T1463=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49046638G>A" "" "likely benign" ""
"0000548360" "0" "70" "12" "49441845" "49441845" "subst" "0" "02325" "KMT2D_000805" "g.49441845C>T" "" "" "" "KMT2D(NM_003482.4):c.4139G>A (p.C1380Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49048062C>T" "" "likely pathogenic" ""
"0000548361" "0" "30" "12" "49442875" "49442875" "subst" "0.00298028" "02325" "KMT2D_000806" "g.49442875G>C" "" "" "" "KMT2D(NM_003482.4):c.4020+13C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49049092G>C" "" "likely benign" ""
"0000548362" "0" "50" "12" "49442904" "49442904" "subst" "0" "02325" "KMT2D_000671" "g.49442904G>C" "" "" "" "KMT2D(NM_003482.3):c.4004C>G (p.S1335C), KMT2D(NM_003482.4):c.4004C>G (p.S1335C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49049121G>C" "" "VUS" ""
"0000548364" "0" "50" "12" "49443500" "49443500" "subst" "0" "01943" "KMT2D_000808" "g.49443500G>A" "" "" "" "KMT2D(NM_003482.3):c.3871C>T (p.R1291W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49049717G>A" "" "VUS" ""
"0000548365" "0" "50" "12" "49443601" "49443601" "subst" "4.06544E-6" "01804" "KMT2D_000809" "g.49443601A>G" "" "" "" "KMT2D(NM_003482.3):c.3770T>C (p.(Leu1257Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49049818A>G" "" "VUS" ""
"0000548366" "0" "10" "12" "49443634" "49443634" "subst" "0.00140264" "01943" "KMT2D_000810" "g.49443634G>A" "" "" "" "KMT2D(NM_003482.3):c.3737C>T (p.T1246M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49049851G>A" "" "benign" ""
"0000548367" "0" "30" "12" "49443774" "49443774" "subst" "1.62584E-5" "01943" "KMT2D_000811" "g.49443774G>A" "" "" "" "KMT2D(NM_003482.3):c.3597C>T (p.L1199=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49049991G>A" "" "likely benign" ""
"0000548368" "0" "30" "12" "49443799" "49443799" "subst" "0.000967377" "01943" "KMT2D_000059" "g.49443799G>A" "" "" "" "KMT2D(NM_003482.3):c.3572C>T (p.P1191L), KMT2D(NM_003482.4):c.3572C>T (p.(Pro1191Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050016G>A" "" "likely benign" ""
"0000548369" "0" "30" "12" "49443801" "49443801" "subst" "8.1281E-6" "01943" "KMT2D_000812" "g.49443801T>C" "" "" "" "KMT2D(NM_003482.3):c.3570A>G (p.A1190=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050018T>C" "" "likely benign" ""
"0000548370" "0" "30" "12" "49443998" "49443998" "subst" "0.000220613" "02326" "KMT2D_000813" "g.49443998G>A" "" "" "" "KMT2D(NM_003482.3):c.3373C>T (p.L1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050215G>A" "" "likely benign" ""
"0000548371" "0" "30" "12" "49444158" "49444158" "subst" "4.5237E-5" "01943" "KMT2D_000814" "g.49444158G>A" "" "" "" "KMT2D(NM_003482.3):c.3213C>T (p.H1071=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050375G>A" "" "likely benign" ""
"0000548372" "0" "30" "12" "49444212" "49444212" "subst" "0" "01943" "KMT2D_000815" "g.49444212G>A" "" "" "" "KMT2D(NM_003482.3):c.3159C>T (p.S1053=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050429G>A" "" "likely benign" ""
"0000548373" "0" "30" "12" "49444379" "49444379" "subst" "0.000472761" "02325" "KMT2D_000677" "g.49444379G>T" "" "" "" "KMT2D(NM_003482.3):c.2992C>A (p.P998T, p.(Pro998Thr)), KMT2D(NM_003482.4):c.2992C>A (p.P998T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050596G>T" "" "likely benign" ""
"0000548374" "0" "50" "12" "49444460" "49444460" "subst" "0" "01943" "KMT2D_000816" "g.49444460A>C" "" "" "" "KMT2D(NM_003482.3):c.2911T>G (p.S971A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050677A>C" "" "VUS" ""
"0000548375" "0" "10" "12" "49444581" "49444581" "del" "0" "01943" "KMT2D_000678" "g.49444581del" "" "" "" "KMT2D(NM_003482.3):c.2798-7delC, KMT2D(NM_003482.3):c.2798-7delC (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050798del" "" "benign" ""
"0000548376" "0" "30" "12" "49444718" "49444718" "subst" "5.30268E-6" "01943" "KMT2D_000817" "g.49444718C>T" "" "" "" "KMT2D(NM_003482.3):c.2748G>A (p.P916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050935C>T" "" "likely benign" ""
"0000548377" "0" "30" "12" "49444933" "49444933" "subst" "5.18296E-5" "01804" "KMT2D_000818" "g.49444933G>A" "" "" "" "KMT2D(NM_003482.3):c.2533C>T (p.(Arg845Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051150G>A" "" "likely benign" ""
"0000548378" "0" "30" "12" "49445028" "49445028" "subst" "0.0423795" "01804" "KMT2D_000098" "g.49445028G>A" "" "" "" "KMT2D(NM_003482.4):c.2438C>T (p.(Pro813Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051245G>A" "" "likely benign" ""
"0000548380" "0" "30" "12" "49445207" "49445233" "del" "0" "01804" "KMT2D_000820" "g.49445207_49445233del" "" "" "" "KMT2D(NM_003482.4):c.2250_2276del (p.(Arg755_Pro763del)), KMT2D(NM_003482.4):c.2250_2276delGCACCTGTCCCCCCGGCCTGAGGAGCC (p.R755_P763del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051424_49051450del" "" "likely benign" ""
"0000548381" "0" "10" "12" "49445207" "49445233" "del" "0" "02325" "KMT2D_000820" "g.49445207_49445233del" "" "" "" "KMT2D(NM_003482.4):c.2250_2276del (p.(Arg755_Pro763del)), KMT2D(NM_003482.4):c.2250_2276delGCACCTGTCCCCCCGGCCTGAGGAGCC (p.R755_P763del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051424_49051450del" "" "benign" ""
"0000548382" "0" "10" "12" "49445310" "49445310" "subst" "0.00258982" "01943" "KMT2D_000821" "g.49445310G>A" "" "" "" "KMT2D(NM_003482.3):c.2156C>T (p.P719L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051527G>A" "" "benign" ""
"0000548384" "0" "30" "12" "49445501" "49445501" "subst" "0.000642209" "01943" "KMT2D_000822" "g.49445501G>T" "" "" "" "KMT2D(NM_003482.3):c.1965C>A (p.P655=), KMT2D(NM_003482.4):c.1965C>A (p.(Pro655=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051718G>T" "" "likely benign" ""
"0000548385" "0" "30" "12" "49445526" "49445526" "subst" "0.000486959" "02326" "KMT2D_000496" "g.49445526G>T" "" "" "" "KMT2D(NM_003482.3):c.1940C>A (p.P647Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051743G>T" "" "likely benign" ""
"0000548387" "0" "30" "12" "49445741" "49445741" "subst" "0.000227541" "01943" "KMT2D_000823" "g.49445741T>A" "" "" "" "KMT2D(NM_003482.3):c.1725A>T (p.P575=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051958T>A" "" "likely benign" ""
"0000548389" "0" "30" "12" "49446456" "49446456" "subst" "0.000354038" "01943" "KMT2D_000825" "g.49446456G>A" "" "" "" "KMT2D(NM_003482.3):c.1149C>T (p.D383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49052673G>A" "" "likely benign" ""
"0000548390" "0" "50" "12" "49446770" "49446770" "subst" "4.06114E-6" "01943" "KMT2D_000826" "g.49446770T>C" "" "" "" "KMT2D(NM_003482.3):c.1040A>G (p.H347R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49052987T>C" "" "VUS" ""
"0000548391" "0" "30" "12" "49447065" "49447065" "subst" "0.000158408" "01943" "KMT2D_000827" "g.49447065C>T" "" "" "" "KMT2D(NM_003482.3):c.879G>A (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49053282C>T" "" "likely benign" ""
"0000548392" "0" "90" "12" "49447402" "49447402" "dup" "0" "02325" "KMT2D_000828" "g.49447402dup" "" "" "" "KMT2D(NM_003482.4):c.696dupT (p.E233*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49053619dup" "" "pathogenic" ""
"0000548393" "0" "30" "12" "49447880" "49447880" "subst" "2.86301E-5" "01943" "KMT2D_000829" "g.49447880C>T" "" "" "" "KMT2D(NM_003482.3):c.554G>A (p.R185H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054097C>T" "" "likely benign" ""
"0000548394" "0" "10" "12" "49448463" "49448463" "subst" "0.0260112" "01943" "KMT2D_000105" "g.49448463C>T" "" "" "" "KMT2D(NM_003482.3):c.248G>A (p.R83Q, p.(Arg83Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054680C>T" "" "benign" ""
"0000548395" "0" "30" "12" "49448463" "49448463" "subst" "0.0260112" "01804" "KMT2D_000105" "g.49448463C>T" "" "" "" "KMT2D(NM_003482.3):c.248G>A (p.R83Q, p.(Arg83Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054680C>T" "" "likely benign" ""
"0000548396" "0" "70" "12" "49448504" "49448504" "subst" "0" "01804" "KMT2D_000830" "g.49448504A>T" "" "" "" "KMT2D(NM_003482.3):c.207T>A (p.(Cys69Ter))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054721A>T" "" "likely pathogenic" ""
"0000548397" "0" "30" "12" "49448696" "49448696" "subst" "1.21918E-5" "01804" "KMT2D_000831" "g.49448696G>A" "" "" "" "KMT2D(NM_003482.3):c.163C>T (p.(Pro55Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054913G>A" "" "likely benign" ""
"0000614166" "0" "30" "12" "49415907" "49415907" "subst" "4.06187E-6" "01943" "PRKAG1_000003" "g.49415907G>A" "" "" "" "KMT2D(NM_003482.3):c.16440C>T (p.N5480=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49022124G>A" "" "likely benign" ""
"0000614167" "0" "90" "12" "49416064" "49416064" "subst" "0" "02327" "PRKAG1_000004" "g.49416064T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49022281T>A" "" "pathogenic" ""
"0000614169" "0" "30" "12" "49420659" "49420659" "subst" "0.000406329" "01943" "KMT2D_000834" "g.49420659A>C" "" "" "" "KMT2D(NM_003482.3):c.15090T>G (p.R5030=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026876A>C" "" "likely benign" ""
"0000614170" "0" "30" "12" "49420752" "49420752" "subst" "4.0621E-6" "01943" "KMT2D_000835" "g.49420752G>A" "" "" "" "KMT2D(NM_003482.3):c.14997C>T (p.G4999=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026969G>A" "" "likely benign" ""
"0000614171" "0" "30" "12" "49421834" "49421834" "subst" "4.06319E-5" "01943" "KMT2D_000599" "g.49421834G>A" "" "" "" "KMT2D(NM_003482.3):c.14473C>T (p.R4825W, p.(Arg4825Trp)), KMT2D(NM_003482.4):c.14473C>T (p.R4825W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49028051G>A" "" "likely benign" ""
"0000614172" "0" "50" "12" "49424206" "49424206" "subst" "0" "01943" "KMT2D_000836" "g.49424206G>A" "" "" "" "KMT2D(NM_003482.3):c.13856C>T (p.P4619L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49030423G>A" "" "VUS" ""
"0000614173" "0" "90" "12" "49425644" "49425644" "subst" "0" "02325" "KMT2D_000020" "g.49425644G>A" "" "" "" "KMT2D(NM_003482.4):c.12844C>T (p.R4282*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49031861G>A" "" "pathogenic" ""
"0000614174" "0" "30" "12" "49426533" "49426533" "subst" "0" "01943" "KMT2D_000837" "g.49426533C>T" "" "" "" "KMT2D(NM_003482.3):c.11955G>A (p.L3985=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032750C>T" "" "likely benign" ""
"0000614175" "0" "50" "12" "49426641" "49426658" "del" "0" "02325" "KMT2D_000038" "g.49426641_49426658del" "" "" "" "KMT2D(NM_003482.4):c.11843_11860delTTCAACAGCAGCAACAGC (p.L3948_Q3953del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032858_49032875del" "" "VUS" ""
"0000614176" "0" "30" "12" "49426765" "49426770" "dup" "0" "01804" "KMT2D_000838" "g.49426765_49426770dup" "" "" "" "KMT2D(NM_003482.3):c.11734_11735insAGCAAC (p.(Gln3910_Gln3911dup)), KMT2D(NM_003482.4):c.11729_11734dupAGCAAC (p.Q3910_Q3911dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032982_49032987dup" "" "likely benign" ""
"0000614178" "0" "90" "12" "49431357" "49431358" "del" "0" "02329" "KMT2D_000840" "g.49431357_49431358del" "" "" "" "KMT2D(NM_003482.4):c.9781_9782delCA (p.Q3261Efs*39)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037574_49037575del" "" "pathogenic" ""
"0000614179" "0" "30" "12" "49431413" "49431413" "subst" "0.00127417" "01943" "KMT2D_000841" "g.49431413G>A" "" "" "" "KMT2D(NM_003482.3):c.9726C>T (p.A3242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037630G>A" "" "likely benign" ""
"0000614181" "0" "30" "12" "49432365" "49432365" "subst" "0.00167696" "02325" "KMT2D_000341" "g.49432365G>A" "" "" "" "KMT2D(NM_003482.3):c.8774C>T (p.A2925V, p.(Ala2925Val)), KMT2D(NM_003482.4):c.8774C>T (p.A2925V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038582G>A" "" "likely benign" ""
"0000614182" "0" "90" "12" "49432411" "49432414" "del" "0" "02329" "KMT2D_000344" "g.49432411_49432414del" "" "" "" "KMT2D(NM_003482.4):c.8727_8730delAAGT (p.S2910Rfs*32)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038628_49038631del" "" "pathogenic" ""
"0000614183" "0" "30" "12" "49433773" "49433773" "subst" "8.1702E-6" "01943" "KMT2D_000845" "g.49433773G>A" "" "" "" "KMT2D(NM_003482.3):c.7780C>T (p.L2594=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49039990G>A" "" "likely benign" ""
"0000614184" "0" "30" "12" "49433924" "49433924" "subst" "2.44429E-5" "01943" "KMT2D_000846" "g.49433924C>T" "" "" "" "KMT2D(NM_003482.3):c.7629G>A (p.G2543=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040141C>T" "" "likely benign" ""
"0000614185" "0" "30" "12" "49433950" "49433950" "subst" "9.78194E-5" "01943" "KMT2D_000774" "g.49433950G>A" "" "" "" "KMT2D(NM_003482.3):c.7603C>T (p.R2535C, p.(Arg2535Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040167G>A" "" "likely benign" ""
"0000614186" "0" "30" "12" "49434820" "49434820" "subst" "0.0011608" "02325" "KMT2D_000656" "g.49434820G>C" "" "" "" "KMT2D(NM_003482.3):c.6733C>G (p.L2245V, p.(Leu2245Val)), KMT2D(NM_003482.4):c.6733C>G (p.L2245V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041037G>C" "" "likely benign" ""
"0000614187" "0" "30" "12" "49434980" "49434980" "subst" "0.00190746" "02325" "KMT2D_000659" "g.49434980C>T" "" "" "" "KMT2D(NM_003482.3):c.6573G>A (p.T2191=), KMT2D(NM_003482.4):c.6573G>A (p.T2191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041197C>T" "" "likely benign" ""
"0000614188" "0" "30" "12" "49435154" "49435154" "subst" "7.53232E-5" "01943" "KMT2D_000848" "g.49435154G>A" "" "" "" "KMT2D(NM_003482.3):c.6399C>T (p.A2133=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041371G>A" "" "likely benign" ""
"0000614189" "0" "50" "12" "49438060" "49438060" "subst" "0" "02325" "KMT2D_000849" "g.49438060C>T" "" "" "" "KMT2D(NM_003482.4):c.5111G>A (p.R1704Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49044277C>T" "" "VUS" ""
"0000614190" "0" "50" "12" "49438745" "49438745" "subst" "0" "01804" "KMT2D_000850" "g.49438745G>C" "" "" "" "KMT2D(NM_003482.3):c.4745C>G (p.(Pro1582Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49044962G>C" "" "VUS" ""
"0000614191" "0" "50" "12" "49439904" "49439904" "subst" "0" "01943" "KMT2D_000852" "g.49439904G>A" "" "" "" "KMT2D(NM_003482.3):c.4637C>T (p.A1546V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49046121G>A" "" "VUS" ""
"0000614192" "0" "30" "12" "49443998" "49443998" "subst" "0.000220613" "01943" "KMT2D_000813" "g.49443998G>A" "" "" "" "KMT2D(NM_003482.3):c.3373C>T (p.L1125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050215G>A" "" "likely benign" ""
"0000614193" "0" "30" "12" "49445189" "49445215" "del" "0" "01804" "KMT2D_000855" "g.49445189_49445215del" "" "" "" "KMT2D(NM_003482.3):c.2256_2282del (p.(Arg755_Pro763del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051406_49051432del" "" "likely benign" ""
"0000614194" "0" "30" "12" "49445512" "49445512" "subst" "0" "01943" "KMT2D_000857" "g.49445512G>A" "" "" "" "KMT2D(NM_003482.3):c.1954C>T (p.R652C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051729G>A" "" "likely benign" ""
"0000614195" "0" "30" "12" "49445669" "49445669" "subst" "0.000629549" "01943" "KMT2D_000858" "g.49445669C>T" "" "" "" "KMT2D(NM_003482.3):c.1797G>A (p.L599=), KMT2D(NM_003482.4):c.1797G>A (p.(Leu599=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051886C>T" "" "likely benign" ""
"0000614196" "0" "30" "12" "49446800" "49446800" "subst" "3.24907E-5" "01943" "KMT2D_000515" "g.49446800G>A" "" "" "" "KMT2D(NM_003482.3):c.1010C>T (p.S337L, p.(Ser337Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49053017G>A" "" "likely benign" ""
"0000614197" "0" "50" "12" "49447431" "49447431" "subst" "0" "01943" "KMT2D_000860" "g.49447431G>T" "" "" "" "KMT2D(NM_003482.3):c.674-7C>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49053648G>T" "" "VUS" ""
"0000614198" "0" "30" "12" "49448093" "49448093" "subst" "0" "01943" "KMT2D_000861" "g.49448093T>G" "" "" "" "KMT2D(NM_003482.3):c.507A>C (p.S169=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054310T>G" "" "likely benign" ""
"0000614199" "0" "90" "12" "49448413" "49448413" "dup" "0" "02329" "KMT2D_000719" "g.49448413dup" "" "" "" "KMT2D(NM_003482.4):c.303dupG (p.S102Efs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49054630dup" "" "pathogenic" ""
"0000622901" "0" "30" "12" "49419951" "49419951" "subst" "0.000199316" "02326" "KMT2D_000832" "g.49419951G>A" "" "" "" "KMT2D(NM_003482.3):c.15784+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49026168G>A" "" "likely benign" ""
"0000622902" "0" "30" "12" "49432238" "49432238" "subst" "4.10081E-6" "01943" "KMT2D_000843" "g.49432238G>A" "" "" "" "KMT2D(NM_003482.3):c.8901C>T (p.P2967=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038455G>A" "" "likely benign" ""
"0000622903" "0" "50" "12" "49432560" "49432560" "subst" "7.89721E-5" "02326" "KMT2D_000844" "g.49432560C>T" "" "" "" "KMT2D(NM_003482.3):c.8579G>A (p.R2860H), KMT2D(NM_003482.4):c.8579G>A (p.(Arg2860His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038777C>T" "" "VUS" ""
"0000622904" "0" "30" "12" "49434424" "49434424" "subst" "2.03593E-5" "02326" "KMT2D_000847" "g.49434424G>A" "" "" "" "KMT2D(NM_003482.3):c.7129C>T (p.P2377S), KMT2D(NM_003482.4):c.7129C>T (p.(Pro2377Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49040641G>A" "" "likely benign" ""
"0000622905" "0" "30" "12" "49438760" "49438760" "dup" "0" "01943" "KMT2D_000851" "g.49438760dup" "" "" "" "KMT2D(NM_003482.3):c.4742-11dupC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49044977dup" "" "likely benign" ""
"0000622907" "0" "30" "12" "49443979" "49443979" "subst" "0.00118135" "02326" "KMT2D_000057" "g.49443979G>A" "" "" "" "KMT2D(NM_003482.3):c.3392C>T (p.P1131L, p.(Pro1131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050196G>A" "" "likely benign" ""
"0000622908" "0" "30" "12" "49444413" "49444413" "subst" "4.07721E-6" "02326" "KMT2D_000854" "g.49444413T>C" "" "" "" "KMT2D(NM_003482.3):c.2958A>G (p.P986=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49050630T>C" "" "likely benign" ""
"0000622909" "0" "30" "12" "49445230" "49445230" "subst" "4.97418E-5" "02326" "KMT2D_000856" "g.49445230G>A" "" "" "" "KMT2D(NM_003482.3):c.2236C>T (p.(Arg746Trp), p.R746W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051447G>A" "" "likely benign" ""
"0000622910" "0" "50" "12" "49446415" "49446415" "subst" "4.07203E-6" "01943" "KMT2D_000859" "g.49446415T>G" "" "" "" "KMT2D(NM_003482.3):c.1190A>C (p.K397T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49052632T>G" "" "VUS" ""
"0000631936" "0" "90" "12" "49444494" "49444494" "subst" "0" "01807" "KMT2D_000862" "g.49444494G>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.49050711G>C" "" "pathogenic" ""
"0000647204" "0" "50" "12" "49426259" "49426259" "subst" "2.9064E-5" "01164" "KMT2D_000864" "g.49426259G>A" "" "" "" "" "ACMG: PM2" "Germline" "" "rs774148221" "0" "" "" "g.49032476G>A" "" "VUS" "ACMG"
"0000647209" "0" "90" "12" "49423259" "49423259" "del" "0" "01807" "KMT2D_000863" "g.49423259del" "" "" "" "14000delA" "" "Unknown" "" "" "0" "" "" "g.49029476del" "" "pathogenic" ""
"0000648574" "1" "50" "12" "49415865" "49415867" "del" "0" "03575" "KMT2D_000542" "g.49415865_49415867del" "8/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 8 heterozygous, no homozygous; {DB:CLININrs587783704}" "Germline" "" "rs587783704" "0" "" "" "g.49022082_49022084del" "" "VUS" ""
"0000648575" "1" "90" "12" "49424974" "49424974" "del" "0" "03575" "KMT2D_000865" "g.49424974del" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783691}" "Germline" "" "rs587783691" "0" "" "" "g.49031191del" "" "pathogenic" ""
"0000648576" "1" "90" "12" "49426082" "49426082" "subst" "0" "03575" "KMT2D_000866" "g.49426082G>A" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123711}" "Germline" "" "rs398123711" "0" "" "" "g.49032299G>A" "" "pathogenic" ""
"0000648577" "1" "30" "12" "49426460" "49426460" "subst" "0.0263664" "03575" "KMT2D_000081" "g.49426460A>G" "107/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "107 heterozygous; {DB:CLININrs80132640}" "Germline" "" "rs80132640" "0" "" "" "g.49032677A>G" "" "likely benign" ""
"0000648578" "1" "70" "12" "49427093" "49427093" "subst" "0" "03575" "KMT2D_000867" "g.49427093G>A" "1/2763 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs786205478}" "Germline" "" "rs786205478" "0" "" "" "g.49033310G>A" "" "likely pathogenic" ""
"0000648579" "1" "90" "12" "49434177" "49434178" "del" "0" "03575" "KMT2D_000868" "g.49434177_49434178del" "7/2694 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "7 heterozygous, no homozygous; {DB:CLININrs794727548}" "Germline" "" "rs794727548" "0" "" "" "g.49040394_49040395del" "" "pathogenic" ""
"0000648580" "1" "30" "12" "49440409" "49440409" "subst" "0.0022598" "03575" "KMT2D_000668" "g.49440409G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs192659833}" "Germline" "" "rs192659833" "0" "" "" "g.49046626G>A" "" "likely benign" ""
"0000648581" "1" "90" "12" "49442899" "49442899" "subst" "0" "03575" "KMT2D_000869" "g.49442899C>A" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs727503986}" "Germline" "" "rs727503986" "0" "" "" "g.49049116C>A" "" "pathogenic" ""
"0000648582" "1" "90" "12" "49443527" "49443539" "del" "0" "03575" "KMT2D_000870" "g.49443527_49443539del" "1/2782 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs398123743}" "Germline" "" "rs398123743" "0" "" "" "g.49049744_49049756del" "" "pathogenic" ""
"0000648583" "1" "70" "12" "49446134" "49446137" "del" "0" "03575" "KMT2D_000871" "g.49446134_49446137del" "11/2622 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "11 heterozygous, no homozygous; {DB:CLININrs587783689}" "Germline" "" "rs587783689" "0" "" "" "g.49052351_49052354del" "" "likely pathogenic" ""
"0000648584" "1" "30" "12" "49448463" "49448463" "subst" "0.0260112" "03575" "KMT2D_000105" "g.49448463C>T" "103/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "103 heterozygous; {DB:CLININrs55865069}" "Germline" "" "rs55865069" "0" "" "" "g.49054680C>T" "" "likely benign" ""
"0000653114" "1" "30" "12" "49430947" "49430947" "subst" "0.00875387" "03575" "KMT2D_000032" "g.49430947T>C" "15/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "15 heterozygous, no homozygous; {DB:CLININrs75937132}" "Germline" "" "rs75937132" "0" "" "" "g.49037164T>C" "" "likely benign" ""
"0000653516" "0" "70" "12" "49438289" "49438289" "del" "0" "03626" "KMT2D_000872" "g.49438289del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.49044506del" "" "likely pathogenic (dominant)" ""
"0000657098" "0" "30" "12" "49415819" "49415819" "subst" "8.54256E-5" "01943" "PRKAG1_000005" "g.49415819C>T" "" "" "" "KMT2D(NM_003482.3):c.16521+7G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49022036C>T" "" "likely benign" ""
"0000657099" "0" "70" "12" "49415908" "49415908" "subst" "0" "01943" "PRKAG1_000006" "g.49415908T>A" "" "" "" "KMT2D(NM_003482.3):c.16439A>T (p.N5480I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49022125T>A" "" "likely pathogenic" ""
"0000657100" "0" "50" "12" "49424729" "49424729" "subst" "1.21865E-5" "01943" "KMT2D_000873" "g.49424729G>A" "" "" "" "KMT2D(NM_003482.3):c.13618C>T (p.R4540W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49030946G>A" "" "VUS" ""
"0000657101" "0" "30" "12" "49425575" "49425575" "subst" "0.00136463" "02325" "KMT2D_000874" "g.49425575C>T" "" "" "" "KMT2D(NM_003482.3):c.12913G>A (p.V4305I), KMT2D(NM_003482.4):c.12913G>A (p.V4305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49031792C>T" "" "likely benign" ""
"0000657102" "0" "50" "12" "49425815" "49425815" "subst" "4.08117E-6" "01943" "KMT2D_000875" "g.49425815G>C" "" "" "" "KMT2D(NM_003482.3):c.12673C>G (p.L4225V), KMT2D(NM_003482.4):c.12673C>G (p.(Leu4225Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032032G>C" "" "VUS" ""
"0000657103" "0" "90" "12" "49425896" "49425896" "subst" "0" "02327" "KMT2D_000250" "g.49425896G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49032113G>A" "" "pathogenic" ""
"0000657104" "0" "30" "12" "49430996" "49430996" "subst" "1.62949E-5" "01943" "KMT2D_000876" "g.49430996G>T" "" "" "" "KMT2D(NM_003482.3):c.10143C>A (p.P3381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49037213G>T" "" "likely benign" ""
"0000657105" "0" "50" "12" "49432708" "49432708" "subst" "0" "02327" "KMT2D_000877" "g.49432708G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038925G>T" "" "VUS" ""
"0000657106" "0" "50" "12" "49432737" "49432737" "subst" "0" "01943" "KMT2D_000878" "g.49432737C>T" "" "" "" "KMT2D(NM_003482.3):c.8402G>A (p.R2801Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49038954C>T" "" "VUS" ""
"0000657107" "0" "30" "12" "49434959" "49434959" "subst" "0" "01943" "KMT2D_000879" "g.49434959G>A" "" "" "" "KMT2D(NM_003482.3):c.6594C>T (p.P2198=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041176G>A" "" "likely benign" ""
"0000657108" "0" "30" "12" "49435116" "49435116" "subst" "0.000207502" "02325" "KMT2D_000880" "g.49435116G>A" "" "" "" "KMT2D(NM_003482.3):c.6437C>T (p.P2146L, p.(Pro2146Leu)), KMT2D(NM_003482.4):c.6437C>T (p.P2146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041333G>A" "" "likely benign" ""
"0000657109" "0" "30" "12" "49435199" "49435199" "subst" "0.000640901" "02327" "KMT2D_000660" "g.49435199G>A" "" "" "" "KMT2D(NM_003482.3):c.6354C>T (p.P2118=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49041416G>A" "" "likely benign" ""
"0000657110" "0" "90" "12" "49444987" "49444987" "subst" "0" "01943" "KMT2D_000881" "g.49444987G>A" "" "" "" "KMT2D(NM_003482.3):c.2479C>T (p.Q827*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051204G>A" "" "pathogenic" ""
"0000657111" "0" "30" "12" "49444989" "49444989" "subst" "0.000169463" "01943" "KMT2D_000882" "g.49444989G>T" "" "" "" "KMT2D(NM_003482.3):c.2477C>A (p.P826H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051206G>T" "" "likely benign" ""
"0000657112" "0" "10" "12" "49445220" "49445246" "del" "0" "02325" "KMT2D_000883" "g.49445220_49445246del" "" "" "" "KMT2D(NM_003482.3):c.2232_2258delACCCCGGCCTGAGGAGCCGCACCTGTC (p.R755_P763del), KMT2D(NM_003482.4):c.2232_2258del (p.(Arg755_Pro763del)), KMT2D(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49051437_49051463del" "" "benign" ""
"0000657114" "0" "30" "12" "49445898" "49445898" "subst" "2.44674E-5" "02326" "KMT2D_000885" "g.49445898G>A" "" "" "" "KMT2D(NM_003482.3):c.1568C>T (p.P523L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49052115G>A" "" "likely benign" ""
"0000657115" "0" "30" "12" "49446450" "49446450" "subst" "0.000293052" "01943" "KMT2D_000886" "g.49446450G>A" "" "" "" "KMT2D(NM_003482.3):c.1155C>T (p.P385=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49052667G>A" "" "likely benign" ""
"0000657116" "0" "30" "12" "49446485" "49446485" "subst" "0.00017942" "01943" "KMT2D_000887" "g.49446485G>T" "" "" "" "KMT2D(NM_003482.3):c.1120C>A (p.P374T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49052702G>T" "" "likely benign" ""
"0000657117" "0" "30" "12" "49447387" "49447387" "subst" "6.02398E-5" "01943" "KMT2D_000888" "g.49447387C>T" "" "" "" "KMT2D(NM_003482.3):c.711G>A (p.E237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.49053604C>T" "" "likely benign" ""
"0000665336" "0" "70" "12" "49415905" "49415905" "subst" "4.06174E-6" "01807" "KMT2D_000545" "g.49415905C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.49022122C>T" "" "likely pathogenic" ""
"0000667601" "0" "70" "12" "49442980" "49442980" "dup" "0" "01164" "KMT2D_000889" "g.49442980dup" "" "" "" "" "ACMG grading: PVS1,PM2\r\nVariant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "" "" "likely pathogenic" "ACMG"
"0000669177" "3" "30" "12" "49426460" "49426460" "subst" "0.0263664" "03575" "KMT2D_000081" "g.49426460A>G" "4/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs80132640}" "Germline" "" "rs80132640" "0" "" "" "g.49032677A>G" "" "likely benign" ""
"0000669178" "3" "90" "12" "49442899" "49442899" "subst" "0" "03575" "KMT2D_000869" "g.49442899C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs727503986}" "Germline" "" "rs727503986" "0" "" "" "g.49049116C>A" "" "pathogenic" ""
"0000669179" "3" "30" "12" "49448463" "49448463" "subst" "0.0260112" "03575" "KMT2D_000105" "g.49448463C>T" "4/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "4 homozygous; {DB:CLININrs55865069}" "Germline" "" "rs55865069" "0" "" "" "g.49054680C>T" "" "likely benign" ""
"0000673613" "0" "70" "12" "49427059" "49427059" "subst" "0" "03695" "KMT2D_000890" "g.49427059A>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000673969" "0" "70" "12" "49422611" "49422611" "subst" "0" "03695" "KMT2D_000891" "g.49422611C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000673992" "0" "90" "12" "49434958" "49434958" "del" "0" "03695" "KMT2D_000892" "g.49434958del" "" "" "" "6595delT" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000673994" "0" "90" "12" "49437148" "49437148" "del" "0" "03695" "KMT2D_000893" "g.49437148del" "" "" "" "5531delC" "" "De novo" "" "" "0" "" "" "" "" "pathogenic" ""
"0000675201" "0" "70" "12" "49428719" "49428719" "subst" "0" "03753" "KMT2D_000901" "g.49428719C>T" "0.04" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000675221" "0" "70" "12" "49434391" "49434391" "subst" "0" "03753" "KMT2D_000907" "g.49434391G>A" "0.032" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000679539" "0" "50" "12" "49418398" "49418398" "subst" "0" "02325" "KMT2D_000894" "g.49418398C>A" "" "" "" "KMT2D(NM_003482.4):c.16015G>T (p.A5339S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000679540" "0" "50" "12" "49420540" "49420540" "subst" "0" "02325" "KMT2D_000895" "g.49420540T>C" "" "" "" "KMT2D(NM_003482.4):c.15209A>G (p.Y5070C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000679542" "0" "30" "12" "49425575" "49425575" "subst" "0.00136463" "01943" "KMT2D_000874" "g.49425575C>T" "" "" "" "KMT2D(NM_003482.3):c.12913G>A (p.V4305I), KMT2D(NM_003482.4):c.12913G>A (p.V4305I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679543" "0" "50" "12" "49425664" "49425664" "subst" "0" "01804" "KMT2D_000896" "g.49425664T>C" "" "" "" "KMT2D(NM_003482.3):c.12824A>G (p.(Gln4275Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000679544" "0" "30" "12" "49425832" "49425832" "subst" "4.06901E-6" "01943" "KMT2D_000897" "g.49425832T>G" "" "" "" "KMT2D(NM_003482.3):c.12656A>C (p.Q4219P), KMT2D(NM_003482.4):c.12656A>C (p.(Gln4219Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679545" "0" "50" "12" "49426620" "49426637" "del" "0" "02325" "KMT2D_000898" "g.49426620_49426637del" "" "" "" "KMT2D(NM_003482.3):c.11862_11879delGCTACAACAGCAACAGCA (p.(Leu3955_Gln3960del)), KMT2D(NM_003482.4):c.11862_11879delGCTACAACAGCAACAGCA (p.L3955_Q39...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000679546" "0" "30" "12" "49426673" "49426673" "subst" "0" "01943" "KMT2D_000899" "g.49426673G>C" "" "" "" "KMT2D(NM_003482.3):c.11815C>G (p.Q3939E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679547" "0" "50" "12" "49426785" "49426787" "dup" "0" "01943" "KMT2D_000036" "g.49426785_49426787dup" "" "" "" "KMT2D(NM_003482.3):c.11714_11716dupAGC (p.(Gln3905dup)), KMT2D(NM_003482.3):c.11714_11716dupAGC (p.Q3905dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000679548" "0" "30" "12" "49431685" "49431685" "subst" "0" "01943" "KMT2D_000902" "g.49431685G>A" "" "" "" "KMT2D(NM_003482.3):c.9454C>T (p.L3152=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679549" "0" "70" "12" "49432774" "49432774" "subst" "0" "01804" "KMT2D_000903" "g.49432774T>C" "" "" "" "KMT2D(NM_003482.3):c.8367-2A>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000679550" "0" "30" "12" "49433111" "49433111" "subst" "5.29955E-5" "02326" "KMT2D_000904" "g.49433111T>C" "" "" "" "KMT2D(NM_003482.3):c.8260A>G (p.S2754G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679551" "0" "30" "12" "49433714" "49433714" "subst" "6.51042E-5" "02326" "KMT2D_000906" "g.49433714C>T" "" "" "" "KMT2D(NM_003482.3):c.7839G>A (p.P2613=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679552" "0" "30" "12" "49434924" "49434924" "subst" "0.00263771" "01943" "KMT2D_000557" "g.49434924G>A" "" "" "" "KMT2D(NM_003482.3):c.6629C>T (p.P2210L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679553" "0" "90" "12" "49442543" "49442543" "del" "0" "02327" "KMT2D_000909" "g.49442543del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000679555" "0" "30" "12" "49446462" "49446462" "subst" "0" "02325" "KMT2D_000910" "g.49446462G>A" "" "" "" "KMT2D(NM_003482.4):c.1143C>T (p.P381=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000679556" "0" "50" "12" "49448505" "49448505" "subst" "4.09682E-6" "02329" "KMT2D_000911" "g.49448505C>G" "" "" "" "KMT2D(NM_003482.4):c.206G>C (p.C69S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000682736" "0" "70" "12" "49427444" "49427444" "subst" "0" "03753" "KMT2D_000900" "g.49427444G>A" "0.05" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000682737" "0" "70" "12" "49438526" "49438526" "subst" "0" "03753" "KMT2D_000908" "g.49438526C>T" "0.038" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000682738" "0" "70" "12" "49433288" "49433288" "subst" "0" "03753" "KMT2D_000905" "g.49433288C>T" "0.076" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000682773" "0" "70" "12" "49434391" "49434391" "subst" "0" "03753" "KMT2D_000907" "g.49434391G>A" "0.069" "{PMID:Mendonca 2021:34478740}" "" "" "" "Somatic" "" "" "" "" "" "" "" "pathogenic" "ACMG"
"0000683327" "0" "70" "12" "49416554" "49416554" "dup" "0" "00006" "KMT2D_000912" "g.49416554dup" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022771dup" "" "likely pathogenic (dominant)" ""
"0000691343" "0" "30" "12" "49420856" "49420856" "subst" "0.00015895" "02325" "KMT2D_000024" "g.49420856C>T" "" "" "" "KMT2D(NM_003482.4):c.14893G>A (p.A4965T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691344" "0" "30" "12" "49425429" "49425429" "subst" "0" "01943" "KMT2D_000913" "g.49425429C>T" "" "" "" "KMT2D(NM_003482.3):c.13059G>A (p.P4353=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691345" "0" "50" "12" "49426726" "49426726" "subst" "0" "01943" "KMT2D_000914" "g.49426726T>A" "" "" "" "KMT2D(NM_003482.3):c.11762A>T (p.Q3921L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691346" "0" "50" "12" "49426728" "49426728" "subst" "0" "01943" "KMT2D_000915" "g.49426728T>C" "" "" "" "KMT2D(NM_003482.3):c.11760A>G (p.L3920=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691347" "0" "50" "12" "49426729" "49426729" "subst" "0" "01943" "KMT2D_000916" "g.49426729A>T" "" "" "" "KMT2D(NM_003482.3):c.11759T>A (p.L3920Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691348" "0" "50" "12" "49431106" "49431106" "subst" "0" "01943" "KMT2D_000917" "g.49431106G>A" "" "" "" "KMT2D(NM_003482.3):c.10033C>T (p.P3345S), KMT2D(NM_003482.4):c.10033C>T (p.(Pro3345Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691349" "0" "30" "12" "49434914" "49434914" "subst" "4.0975E-5" "02326" "KMT2D_000918" "g.49434914G>A" "" "" "" "KMT2D(NM_003482.3):c.6639C>T (p.G2213=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691350" "0" "30" "12" "49434998" "49434998" "subst" "0" "01943" "KMT2D_000919" "g.49434998C>T" "" "" "" "KMT2D(NM_003482.3):c.6555G>A (p.L2185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691351" "0" "50" "12" "49436347" "49436347" "subst" "0" "02325" "KMT2D_000920" "g.49436347G>A" "" "" "" "KMT2D(NM_003482.4):c.5864C>T (p.S1955F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691352" "0" "30" "12" "49437423" "49437423" "subst" "1.21923E-5" "01943" "KMT2D_000921" "g.49437423T>C" "" "" "" "KMT2D(NM_003482.3):c.5462A>G (p.Q1821R, p.(Gln1821Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691353" "0" "50" "12" "49437536" "49437536" "subst" "0" "02325" "KMT2D_000922" "g.49437536G>T" "" "" "" "KMT2D(NM_003482.4):c.5349C>A (p.(Asp1783Glu), p.D1783E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691354" "0" "50" "12" "49440074" "49440074" "subst" "0" "01943" "KMT2D_000923" "g.49440074C>T" "" "" "" "KMT2D(NM_003482.3):c.4552G>A (p.D1518N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000691355" "0" "30" "12" "49442972" "49442972" "subst" "7.2822E-5" "01943" "KMT2D_000924" "g.49442972G>A" "" "" "" "KMT2D(NM_003482.3):c.3936C>T (p.R1312=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000691356" "0" "30" "12" "49445220" "49445246" "del" "0" "01943" "KMT2D_000883" "g.49445220_49445246del" "" "" "" "KMT2D(NM_003482.3):c.2232_2258delACCCCGGCCTGAGGAGCCGCACCTGTC (p.R755_P763del), KMT2D(NM_003482.4):c.2232_2258del (p.(Arg755_Pro763del)), KMT2D(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000694250" "0" "90" "12" "49425542" "49425542" "subst" "0" "00006" "KMT2D_000929" "g.49425542C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.49031759C>A" "" "pathogenic" "ACMG"
"0000694251" "0" "70" "12" "49440539" "49440539" "subst" "0" "00006" "KMT2D_000943" "g.49440539C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.49046756C>G" "" "likely pathogenic" "ACMG"
"0000694252" "0" "90" "12" "49444304" "49444304" "subst" "0" "00006" "KMT2D_000946" "g.49444304G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.49050521G>A" "" "pathogenic" "ACMG"
"0000694287" "11" "30" "12" "49418669" "49418669" "subst" "5.24664E-5" "00006" "KMT2D_000925" "g.49418669C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49024886C>T" "" "likely benign" "ACMG"
"0000694288" "11" "30" "12" "49420435" "49420435" "subst" "8.12658E-6" "00006" "KMT2D_000926" "g.49420435T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49026652T>C" "" "likely benign" "ACMG"
"0000694289" "11" "30" "12" "49420913" "49420913" "subst" "6.33937E-5" "00006" "KMT2D_000927" "g.49420913C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49027130C>T" "" "likely benign" "ACMG"
"0000694290" "21" "30" "12" "49424720" "49424720" "subst" "1.62487E-5" "00006" "KMT2D_000928" "g.49424720C>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49030937C>A" "" "likely benign" "ACMG"
"0000694291" "11" "30" "12" "49425964" "49425964" "subst" "0.000400016" "00006" "KMT2D_000930" "g.49425964G>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49032181G>T" "" "likely benign" "ACMG"
"0000694292" "21" "30" "12" "49425964" "49425964" "subst" "0.000400016" "00006" "KMT2D_000930" "g.49425964G>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49032181G>T" "" "likely benign" "ACMG"
"0000694293" "3" "30" "12" "49426004" "49426004" "subst" "2.44369E-5" "00006" "KMT2D_000931" "g.49426004G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49032221G>A" "" "likely benign" "ACMG"
"0000694294" "0" "50" "12" "49426082" "49426082" "subst" "0" "00006" "KMT2D_000932" "g.49426082G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.49032299G>C" "" "VUS" "ACMG"
"0000694295" "11" "30" "12" "49426743" "49426751" "del" "0" "00006" "KMT2D_000747" "g.49426743_49426751del" "" "{PMID:Faundes 2018:29276005}" "" "11750_11758delAGCAGCAGC" "" "Germline" "" "" "0" "" "" "g.49032960_49032968del" "" "likely benign" "ACMG"
"0000694296" "11" "30" "12" "49427284" "49427286" "dup" "0" "00006" "KMT2D_000752" "g.49427284_49427286dup" "" "{PMID:Faundes 2018:29276005}" "" "11222_11223insGCA" "" "Germline" "" "" "0" "" "" "g.49033501_49033503dup" "" "likely benign" "ACMG"
"0000694297" "21" "30" "12" "49427495" "49427495" "subst" "0.00138" "00006" "KMT2D_000085" "g.49427495G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49033712G>C" "" "likely benign" "ACMG"
"0000694298" "21" "30" "12" "49427495" "49427495" "subst" "0.00138" "00006" "KMT2D_000085" "g.49427495G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49033712G>C" "" "likely benign" "ACMG"
"0000694299" "21" "30" "12" "49428638" "49428638" "subst" "8.12216E-6" "00006" "KMT2D_000933" "g.49428638C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49034855C>T" "" "likely benign" "ACMG"
"0000694300" "21" "50" "12" "49431084" "49431084" "subst" "0" "00006" "KMT2D_000934" "g.49431084T>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49037301T>C" "" "VUS" "ACMG"
"0000694301" "21" "30" "12" "49431810" "49431810" "subst" "0" "00006" "KMT2D_000935" "g.49431810C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49038027C>G" "" "likely benign" "ACMG"
"0000694302" "21" "30" "12" "49433758" "49433758" "subst" "0" "00006" "KMT2D_000936" "g.49433758C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49039975C>T" "" "likely benign" "ACMG"
"0000694303" "21" "30" "12" "49434078" "49434078" "subst" "8.71156E-6" "00006" "KMT2D_000937" "g.49434078C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49040295C>T" "" "likely benign" "ACMG"
"0000694304" "21" "30" "12" "49434199" "49434199" "subst" "4.46021E-5" "00006" "KMT2D_000938" "g.49434199G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49040416G>A" "" "likely benign" "ACMG"
"0000694305" "21" "30" "12" "49434355" "49434355" "subst" "7.78548E-5" "00006" "KMT2D_000779" "g.49434355G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49040572G>C" "" "likely benign" "ACMG"
"0000694306" "0" "50" "12" "49434732" "49434732" "subst" "2.04268E-5" "00006" "KMT2D_000939" "g.49434732G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "De novo" "" "" "0" "" "" "g.49040949G>A" "" "VUS" "ACMG"
"0000694307" "21" "30" "12" "49435116" "49435116" "subst" "0.000207502" "00006" "KMT2D_000880" "g.49435116G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49041333G>A" "" "likely benign" "ACMG"
"0000694308" "11" "50" "12" "49436001" "49436001" "subst" "0" "00006" "KMT2D_000940" "g.49436001C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49042218C>T" "" "VUS" "ACMG"
"0000694309" "21" "30" "12" "49436073" "49436073" "subst" "0" "00006" "KMT2D_000941" "g.49436073C>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49042290C>T" "" "likely benign" "ACMG"
"0000694310" "11" "30" "12" "49438625" "49438625" "subst" "3.65482E-5" "00006" "KMT2D_000942" "g.49438625C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49044842C>G" "" "likely benign" "ACMG"
"0000694311" "11" "30" "12" "49443799" "49443799" "subst" "0.000967377" "00006" "KMT2D_000059" "g.49443799G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49050016G>A" "" "likely benign" "ACMG"
"0000694312" "21" "50" "12" "49444241" "49444243" "del" "0" "00006" "KMT2D_000944" "g.49444241_49444243del" "" "{PMID:Faundes 2018:29276005}" "" "3133_3135delCCT" "" "Germline" "" "" "0" "" "" "g.49050458_49050460del" "" "VUS" "ACMG"
"0000694313" "11" "50" "12" "49444301" "49444301" "subst" "3.69125E-5" "00006" "KMT2D_000945" "g.49444301A>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49050518A>G" "" "VUS" "ACMG"
"0000694314" "11" "30" "12" "49444379" "49444379" "subst" "0.000472761" "00006" "KMT2D_000677" "g.49444379G>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49050596G>T" "" "likely benign" "ACMG"
"0000694315" "11" "30" "12" "49444379" "49444379" "subst" "0.000472761" "00006" "KMT2D_000677" "g.49444379G>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49050596G>T" "" "likely benign" "ACMG"
"0000694316" "11" "30" "12" "49444503" "49444503" "subst" "0" "00006" "KMT2D_000947" "g.49444503C>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49050720C>G" "" "likely benign" "ACMG"
"0000694317" "11" "30" "12" "49445017" "49445017" "subst" "0" "00006" "KMT2D_000948" "g.49445017G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49051234G>C" "" "likely benign" "ACMG"
"0000694318" "21" "10" "12" "49445392" "49445392" "subst" "0.00349459" "00006" "KMT2D_000683" "g.49445392G>T" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49051609G>T" "" "benign" "ACMG"
"0000694319" "11" "30" "12" "49445578" "49445578" "subst" "4.07103E-6" "00006" "KMT2D_000949" "g.49445578G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49051795G>A" "" "likely benign" "ACMG"
"0000694320" "21" "50" "12" "49445719" "49445719" "subst" "0" "00006" "KMT2D_000950" "g.49445719G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49051936G>C" "" "VUS" "ACMG"
"0000694321" "21" "50" "12" "49445799" "49445799" "subst" "4.06726E-6" "00006" "KMT2D_000118" "g.49445799G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49052016G>A" "" "VUS" "ACMG"
"0000694322" "21" "30" "12" "49445976" "49445976" "subst" "0.000106065" "00006" "KMT2D_000951" "g.49445976G>A" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49052193G>A" "" "likely benign" "ACMG"
"0000694323" "11" "30" "12" "49446189" "49446189" "subst" "1.06296E-5" "00006" "KMT2D_000952" "g.49446189A>G" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49052406A>G" "" "likely benign" "ACMG"
"0000694324" "3" "30" "12" "49447286" "49447286" "subst" "1.2716E-5" "00006" "KMT2D_000953" "g.49447286G>C" "" "{PMID:Faundes 2018:29276005}" "" "" "" "Germline" "" "" "0" "" "" "g.49053503G>C" "" "likely benign" "ACMG"
"0000698207" "0" "70" "12" "49427969" "49427969" "subst" "0" "00006" "KMT2D_000961" "g.49427969C>G" "" "{PMID:Zhu 2015:25590979}" "" "" "" "De novo" "" "" "0" "" "" "g.49034186C>G" "" "VUS" ""
"0000698293" "11" "50" "12" "49446070" "49446070" "subst" "4.21977E-5" "00006" "KMT2D_000967" "g.49446070G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline" "" "" "0" "" "" "g.49052287G>A" "" "VUS" "ACMG"
"0000698294" "0" "90" "12" "49445552" "49445552" "del" "0" "00006" "KMT2D_000966" "g.49445552del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49051769del" "" "pathogenic" "ACMG"
"0000698295" "21" "50" "12" "49444178" "49444178" "subst" "2.44978E-5" "00006" "KMT2D_000965" "g.49444178A>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline" "" "" "0" "" "" "g.49050395A>T" "" "VUS" "ACMG"
"0000698296" "0" "90" "12" "49443839" "49443839" "subst" "0" "00006" "KMT2D_000474" "g.49443839G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49050056G>A" "" "pathogenic" "ACMG"
"0000698297" "0" "90" "12" "49441854" "49441854" "subst" "0" "00006" "KMT2D_000964" "g.49441854T>C" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49048071T>C" "" "pathogenic" "ACMG"
"0000698298" "0" "90" "12" "49441848" "49441849" "del" "0" "00006" "KMT2D_000062" "g.49441848_49441849del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49048065_49048066del" "" "pathogenic (dominant)" "ACMG"
"0000698299" "0" "90" "12" "49437701" "49437701" "subst" "0" "00006" "KMT2D_000416" "g.49437701G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49043918G>A" "" "pathogenic (dominant)" "ACMG"
"0000698300" "0" "90" "12" "49434325" "49434325" "subst" "0" "00006" "KMT2D_000376" "g.49434325G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49040542G>A" "" "pathogenic" "ACMG"
"0000698301" "0" "90" "12" "49433662" "49433662" "subst" "0" "00006" "KMT2D_000963" "g.49433662C>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49039879C>A" "" "pathogenic (dominant)" "ACMG"
"0000698302" "0" "90" "12" "49431891" "49431891" "del" "0" "00006" "KMT2D_000962" "g.49431891del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49038108del" "" "pathogenic" "ACMG"
"0000698303" "0" "90" "12" "49427312" "49427312" "del" "0" "00006" "KMT2D_000960" "g.49427312del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49033529del" "" "pathogenic" "ACMG"
"0000698304" "0" "90" "12" "49427255" "49427255" "subst" "0" "00006" "KMT2D_000959" "g.49427255G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49033472G>A" "" "pathogenic" "ACMG"
"0000698305" "0" "90" "12" "49427216" "49427216" "subst" "0" "00006" "KMT2D_000958" "g.49427216G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49033433G>A" "" "pathogenic" "ACMG"
"0000698306" "0" "90" "12" "49426536" "49426536" "dup" "0" "00006" "KMT2D_000957" "g.49426536dup" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49032753dup" "" "pathogenic" "ACMG"
"0000698307" "0" "90" "12" "49424981" "49424981" "subst" "0" "00006" "KMT2D_000047" "g.49424981G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49031198G>A" "" "pathogenic (dominant)" "ACMG"
"0000698308" "0" "70" "12" "49422612" "49422612" "subst" "0" "00006" "KMT2D_000956" "g.49422612T>C" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49028829T>C" "" "likely pathogenic (dominant)" "ACMG"
"0000698309" "0" "90" "12" "49421039" "49421039" "subst" "0" "00006" "KMT2D_000201" "g.49421039G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49027256G>A" "" "pathogenic" "ACMG"
"0000698310" "0" "90" "12" "49416475" "49416475" "del" "0" "00006" "KMT2D_000954" "g.49416475del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022692del" "" "pathogenic" "ACMG"
"0000698311" "0" "70" "12" "49416479" "49416479" "subst" "0" "00006" "KMT2D_000955" "g.49416479A>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022696A>T" "" "likely pathogenic" "ACMG"
"0000698312" "0" "70" "12" "49416416" "49416416" "subst" "0" "00006" "KMT2D_000120" "g.49416416C>T" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49022633C>T" "" "likely pathogenic (dominant)" "ACMG"
"0000698313" "0" "90" "12" "49416115" "49416115" "subst" "0" "00006" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022332G>A" "" "pathogenic" "ACMG"
"0000698314" "0" "90" "12" "49416115" "49416115" "subst" "0" "00006" "KMT2D_000541" "g.49416115G>A" "" "{PMID:Squeo 2020:32170002}" "" "" "" "De novo" "" "" "0" "" "" "g.49022332G>A" "" "pathogenic (dominant)" "ACMG"
"0000698315" "0" "90" "12" "49415878" "49415879" "del" "0" "00006" "KMT2D_000544" "g.49415878_49415879del" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49022095_49022096del" "" "pathogenic" "ACMG"
"0000703409" "0" "70" "12" "49420204" "49420204" "dup" "0" "01164" "KMT2D_000153" "g.49420204dup" "" "" "" "" "ACMG: PVS1, PM2" "Germline" "?" "" "0" "" "" "g.49026421dup" "" "likely pathogenic (dominant)" "ACMG"
"0000703857" "0" "90" "12" "49432034" "49432034" "dup" "0" "00006" "KMT2D_000974" "g.49432034dup" "" "{PMID:Brackmann 2012:23042018}" "" "9109dupC" "" "Unknown" "" "" "0" "" "" "g.49038251dup" "" "pathogenic (dominant)" ""
"0000703858" "0" "90" "12" "49431310" "49431310" "subst" "0" "00006" "KMT2D_000326" "g.49431310G>A" "" "{PMID:Courcet 2013:23535010}" "" "" "" "Unknown" "" "" "0" "" "" "g.49037527G>A" "" "pathogenic (dominant)" ""
"0000703859" "0" "50" "12" "49416091" "49416091" "subst" "0" "00006" "KMT2D_000970" "g.49416091C>G" "" "{PMID:Giordano 2014:24460868}" "" "" "" "Unknown" "" "" "0" "" "" "g.49022308C>G" "" "VUS" ""
"0000703860" "0" "90" "12" "49434245" "49434246" "ins" "0" "00006" "KMT2D_000371" "g.49434245_49434246insA" "" "{PMID:Karagianni 2016:26898171}" "" "7307_7308insT" "" "Unknown" "" "" "0" "" "" "g.49040462_49040463insA" "" "pathogenic (dominant)" ""
"0000703861" "0" "90" "12" "49448413" "49448413" "del" "0" "00006" "KMT2D_000985" "g.49448413del" "" "{PMID:Lindsley 2016:26194542}" "" "303delG" "" "Unknown" "" "" "0" "" "" "g.49054630del" "" "pathogenic (dominant)" ""
"0000703862" "0" "90" "12" "49445457" "49445458" "ins" "0" "00006" "KMT2D_000984" "g.49445457_49445458insA" "" "{PMID:Lindsley 2016:26194542}" "" "2008_2009insT" "" "Unknown" "" "" "0" "" "" "g.49051674_49051675insA" "" "pathogenic (dominant)" ""
"0000703863" "0" "90" "12" "49436429" "49436429" "subst" "0" "00006" "KMT2D_000978" "g.49436429C>T" "" "{PMID:Lindsley 2016:26194542}" "" "" "" "Unknown" "" "" "0" "" "" "g.49042646C>T" "" "pathogenic (dominant)" ""
"0000703864" "0" "50" "12" "49435697" "49435697" "subst" "0" "00006" "KMT2D_000977" "g.49435697C>A" "" "{PMID:Lindsley 2016:26194542}" "" "" "" "Unknown" "" "" "0" "" "" "g.49041914C>A" "" "VUS" ""
"0000703865" "0" "90" "12" "49434127" "49434127" "subst" "0" "00006" "KMT2D_000975" "g.49434127C>A" "" "{PMID:Lindsley 2016:26194542}" "" "" "" "Unknown" "" "" "0" "" "" "g.49040344C>A" "" "pathogenic (dominant)" ""
"0000703866" "0" "90" "12" "49434711" "49434711" "del" "0" "00006" "KMT2D_000976" "g.49434711del" "" "{PMID:Lindsley 2016:26194542}" "" "6844delC" "" "Unknown" "" "" "0" "" "" "g.49040928del" "" "pathogenic (dominant)" ""
"0000703867" "0" "50" "12" "49420645" "49420645" "subst" "0" "00006" "KMT2D_000971" "g.49420645C>G" "" "{PMID:Lindsley 2016:26194542}" "" "" "" "Unknown" "" "" "0" "" "" "g.49026862C>G" "" "VUS" ""
"0000703868" "0" "90" "12" "49443617" "49443617" "subst" "0" "00006" "KMT2D_000467" "g.49443617G>A" "" "{PMID:Lindsley 2016:26194542}" "" "" "" "Unknown" "" "" "0" "" "" "g.49049834G>A" "" "pathogenic (dominant)" ""
"0000703869" "0" "90" "12" "49416417" "49416417" "subst" "0" "00006" "KMT2D_000121" "g.49416417G>A" "" "{PMID:Lindsley 2016:26194542}" "" "" "" "Unknown" "" "" "0" "" "" "g.49022634G>A" "" "pathogenic (dominant)" ""
"0000703870" "0" "90" "12" "49415920" "49415920" "del" "0" "00006" "KMT2D_000700" "g.49415920del" "" "{PMID:McVeigh 2015:26049589}" "" "16428delC" "" "Unknown" "" "" "0" "" "" "g.49022137del" "" "pathogenic (dominant)" ""
"0000703871" "0" "90" "12" "49437707" "49437707" "subst" "0" "00006" "KMT2D_000979" "g.49437707G>A" "" "{PMID:Schulz 2014:24705355}" "" "" "" "Unknown" "" "" "0" "" "" "g.49043924G>A" "" "pathogenic (dominant)" ""
"0000703872" "0" "90" "12" "49440444" "49440444" "dup" "0" "00006" "KMT2D_000982" "g.49440444dup" "" "{PMID:Soden 2014:25473036}" "" "ref?:c.4366dupT" "" "De novo" "" "" "0" "" "" "g.49046661dup" "" "pathogenic (dominant)" ""
"0000703873" "0" "90" "12" "49425488" "49425512" "del" "0" "00006" "KMT2D_000972" "g.49425488_49425512del" "" "{PMID:Verhagen 2014:24862881}" "" "" "" "Unknown" "" "" "0" "" "" "g.49031705_49031729del" "" "pathogenic (dominant)" ""
"0000703874" "0" "90" "12" "49444268" "49444268" "subst" "0" "00006" "KMT2D_000983" "g.49444268G>T" "" "{PMID:Yuen 2015:25621899}" "" "" "" "Unknown" "" "" "0" "" "" "g.49050485G>T" "" "pathogenic (dominant)" ""
"0000703875" "0" "90" "12" "49438005" "49438005" "del" "0" "00006" "KMT2D_000980" "g.49438005del" "" "{PMID:Zaidi 2013:23665959}" "" "5166delT" "" "Unknown" "" "" "0" "" "" "g.49044222del" "" "pathogenic (dominant)" ""
"0000703876" "0" "90" "12" "49412758" "49449107" "del" "0" "00006" "KMT2D_000969" "g.(?_49412758)_(49449107_?)del" "" "{PMID:Banka 2013:22901312}" "" "del gene" "whole gene deletion, 0.10-0.20 somatic mosaicism" "Somatic" "" "" "0" "" "" "g.(?_49018975)_(49055324_?)del" "" "pathogenic (dominant)" ""
"0000703877" "0" "90" "12" "49440392" "49441856" "del" "0" "00006" "KMT2D_000981" "g.(49438750_49440392)_(49441856_49443467)del" "" "{PMID:Riess 2012:23326255}" "" "del incl. ex14-15" "" "Unknown" "" "" "0" "" "" "g.(49044967_49046609)_(49048073_49049684)del" "" "pathogenic (dominant)" ""
"0000703878" "0" "90" "12" "49430910" "49440576" "dup" "0" "00006" "KMT2D_000973" "g.(49428722_49430910)_(49440576_49441749)dup" "" "{PMID:Banka 2013:22901312}" "" "dup ex15-34" "" "De novo" "" "" "0" "" "" "g.(49034939_49037127)_(49046793_49047966)dup" "" "pathogenic (dominant)" ""
"0000703879" "0" "90" "12" "4941275" "49423260" "del" "0" "00006" "KMT2D_000968" "g.(?_4941275)_(49423260_49424383)del" "" "{PMID:Banka 2013:22901312}" "" "del ex43-54" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.(?_49018975)_(49029477_49030600)del" "" "pathogenic (dominant)" ""
"0000724066" "0" "70" "12" "49420010" "49420010" "subst" "0" "02329" "KMT2D_000592" "g.49420010C>T" "" "" "" "KMT2D(NM_003482.4):c.15739G>A (p.E5247K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000724067" "0" "70" "12" "49420073" "49420075" "del" "0" "02329" "KMT2D_000726" "g.49420073_49420075del" "" "" "" "KMT2D(NM_003482.4):c.15680_15682delGCT (p.C5227del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000724068" "0" "90" "12" "49420493" "49420493" "subst" "0" "02329" "KMT2D_000170" "g.49420493G>A" "" "" "" "KMT2D(NM_003482.3):c.15256C>T (p.R5086*), KMT2D(NM_003482.4):c.15256C>T (p.R5086*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724069" "0" "90" "12" "49423228" "49423231" "del" "0" "02327" "KMT2D_000986" "g.49423228_49423231del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724070" "0" "50" "12" "49425422" "49425422" "subst" "0" "02329" "KMT2D_000736" "g.49425422C>G" "" "" "" "KMT2D(NM_003482.4):c.13066G>C (p.G4356R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724071" "0" "90" "12" "49426340" "49426350" "delins" "0" "02329" "KMT2D_000987" "g.49426340_49426350delinsTGTAGAGGGC" "" "" "" "KMT2D(NM_003482.4):c.12138_12148delAGGGCCGTTAGinsGCCCTCTACA (p.G4047Pfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724072" "0" "50" "12" "49426692" "49426709" "del" "0" "02325" "KMT2D_000988" "g.49426692_49426709del" "" "" "" "KMT2D(NM_003482.4):c.11792_11809delTTCAACAGCAGCAACAGC (p.L3931_Q3936del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724073" "0" "90" "12" "49426748" "49426748" "subst" "0" "02327" "KMT2D_000989" "g.49426748G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724074" "0" "70" "12" "49427995" "49427995" "subst" "0" "02329" "KMT2D_000839" "g.49427995A>G" "" "" "" "KMT2D(NM_003482.4):c.10595T>C (p.I3532T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000724075" "0" "50" "12" "49430911" "49430911" "subst" "0" "02329" "KMT2D_000761" "g.49430911T>C" "" "" "" "KMT2D(NM_003482.3):c.10228A>G (p.(Thr3410Ala)), KMT2D(NM_003482.4):c.10228A>G (p.T3410A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724076" "0" "50" "12" "49432215" "49432215" "subst" "8.15029E-6" "02329" "KMT2D_000640" "g.49432215C>T" "" "" "" "KMT2D(NM_003482.4):c.8924G>A (p.R2975H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724077" "0" "50" "12" "49432599" "49432599" "subst" "0" "01943" "KMT2D_000990" "g.49432599C>T" "" "" "" "KMT2D(NM_003482.3):c.8540G>A (p.R2847H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724078" "0" "30" "12" "49433037" "49433037" "subst" "0" "01943" "KMT2D_000991" "g.49433037T>C" "" "" "" "KMT2D(NM_003482.3):c.8334A>G (p.P2778=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724079" "0" "50" "12" "49433322" "49433322" "subst" "0" "02325" "KMT2D_000992" "g.49433322C>G" "" "" "" "KMT2D(NM_003482.4):c.8125G>C (p.A2709P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724080" "0" "50" "12" "49433521" "49433521" "subst" "8.1614E-6" "02329" "KMT2D_000993" "g.49433521C>G" "" "" "" "KMT2D(NM_003482.4):c.8032G>C (p.E2678Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724081" "0" "30" "12" "49433522" "49433522" "subst" "2.44876E-5" "01943" "KMT2D_000994" "g.49433522C>T" "" "" "" "KMT2D(NM_003482.3):c.8031G>A (p.L2677=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724082" "0" "50" "12" "49433908" "49433908" "subst" "0" "02329" "KMT2D_000773" "g.49433908G>C" "" "" "" "KMT2D(NM_003482.4):c.7645C>G (p.P2549A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724083" "0" "50" "12" "49434097" "49434097" "subst" "4.57193E-6" "02327" "KMT2D_000995" "g.49434097G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724084" "0" "50" "12" "49434175" "49434175" "subst" "2.42344E-5" "01943" "KMT2D_000996" "g.49434175G>A" "" "" "" "KMT2D(NM_003482.3):c.7378C>T (p.R2460C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724085" "0" "30" "12" "49434522" "49434522" "subst" "2.45738E-5" "02325" "KMT2D_000997" "g.49434522C>T" "" "" "" "KMT2D(NM_003482.3):c.7031G>A (p.(Gly2344Asp)), KMT2D(NM_003482.4):c.7031G>A (p.G2344D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724087" "0" "90" "12" "49436875" "49436878" "del" "0" "02329" "KMT2D_000411" "g.49436875_49436878del" "" "" "" "KMT2D(NM_003482.4):c.5627_5630delACAG (p.D1876Gfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724088" "0" "90" "12" "49437178" "49437178" "dup" "0" "02329" "KMT2D_000793" "g.49437178dup" "" "" "" "KMT2D(NM_003482.4):c.5503dupC (p.R1835Pfs*13)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724089" "0" "50" "12" "49440055" "49440055" "subst" "4.06428E-6" "02329" "KMT2D_000853" "g.49440055C>T" "" "" "" "KMT2D(NM_003482.4):c.4571G>A (p.R1524H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724090" "0" "90" "12" "49440121" "49440139" "del" "0" "02329" "KMT2D_000667" "g.49440121_49440139del" "" "" "" "KMT2D(NM_003482.4):c.4489_4507delCACTGTGGGCCCTGTGCCA (p.H1497Afs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000724091" "0" "50" "12" "49443482" "49443482" "subst" "5.89563E-5" "02329" "KMT2D_000807" "g.49443482G>A" "" "" "" "KMT2D(NM_003482.4):c.3889C>T (p.R1297C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000724092" "0" "30" "12" "49445392" "49445392" "subst" "0.00349459" "01943" "KMT2D_000683" "g.49445392G>T" "" "" "" "KMT2D(NM_003482.3):c.2074C>A (p.P692T, p.(Pro692Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000724093" "0" "30" "12" "49446777" "49446777" "subst" "2.84276E-5" "02325" "KMT2D_000998" "g.49446777G>C" "" "" "" "KMT2D(NM_003482.4):c.1033C>G (p.L345V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000730880" "0" "90" "12" "49433060" "49433060" "subst" "0" "00000" "KMT2D_000357" "g.49433060G>A" "" "{PMID:Patel 2017:29450879}" "" "" "" "De novo" "" "" "0" "" "" "g.49039277G>A" "" "pathogenic (dominant)" ""
"0000733939" "0" "70" "12" "49420934" "49420934" "subst" "2.92042E-5" "04011" "KMT2D_000729" "g.49420934C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734030" "0" "70" "12" "49435048" "49435048" "subst" "0" "04011" "KMT2D_001000" "g.49435048C>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734031" "0" "70" "12" "49420078" "49420078" "subst" "0.000958578" "04011" "KMT2D_000593" "g.49420078C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734066" "0" "70" "12" "49437155" "49437155" "subst" "8.12315E-6" "04011" "KMT2D_001001" "g.49437155C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734122" "0" "70" "12" "49425086" "49425086" "subst" "1.62668E-5" "04011" "KMT2D_000999" "g.49425086G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734288" "0" "70" "12" "49439859" "49439859" "subst" "5.38423E-5" "04011" "KMT2D_001002" "g.49439859A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734514" "0" "70" "12" "49445712" "49445712" "subst" "0" "04011" "KMT2D_001008" "g.49445712G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734536" "0" "70" "12" "49420078" "49420078" "subst" "0.000958578" "04011" "KMT2D_000593" "g.49420078C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734623" "0" "70" "12" "49439859" "49439859" "subst" "5.38423E-5" "04011" "KMT2D_001002" "g.49439859A>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734650" "0" "70" "12" "49439738" "49439738" "subst" "0" "04011" "KMT2D_001007" "g.49439738G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000734656" "0" "70" "12" "49420078" "49420078" "subst" "0.000958578" "04011" "KMT2D_000593" "g.49420078C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735026" "0" "70" "12" "49426159" "49426159" "subst" "4.61774E-5" "04011" "KMT2D_001005" "g.49426159G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735027" "0" "70" "12" "49424500" "49424500" "subst" "1.62836E-5" "04011" "KMT2D_001003" "g.49424500G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735040" "0" "70" "12" "49448388" "49448388" "subst" "0" "04011" "KMT2D_001009" "g.49448388G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735096" "0" "70" "12" "49427347" "49427347" "subst" "0.00322029" "04011" "KMT2D_000623" "g.49427347C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735307" "0" "70" "12" "49426370" "49426370" "subst" "4.06861E-6" "04011" "KMT2D_001006" "g.49426370C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735431" "0" "70" "12" "49425724" "49425724" "subst" "0" "04011" "KMT2D_001004" "g.49425724C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735489" "0" "70" "12" "49427347" "49427347" "subst" "0.00322029" "04011" "KMT2D_000623" "g.49427347C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000735538" "0" "70" "12" "49443799" "49443799" "subst" "0.000967377" "04011" "KMT2D_000059" "g.49443799G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" ""
"0000763205" "1" "90" "12" "49433060" "49433060" "subst" "0" "00006" "KMT2D_000357" "g.49433060G>A" "" "{PMID:Anazi 2017:27431290}" "" "" "ACMG PVS1, PS1, PS2" "De novo" "" "" "0" "" "" "g.49039277G>A" "" "pathogenic" "ACMG"
"0000786648" "0" "70" "12" "49424183" "49424183" "del" "0" "00006" "KMT2D_001010" "g.49424183del" "" "{PMID:Lefebvre 2021:32732226}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49030400del" "" "likely pathogenic" ""
"0000786902" "0" "90" "12" "49448413" "49448413" "dup" "0" "00006" "KMT2D_000719" "g.49448413dup" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.49054630dup" "{CV-RCV:000522326.1}" "pathogenic" ""
"0000786903" "0" "70" "12" "49434099" "49434099" "del" "0" "00006" "KMT2D_001012" "g.49434099del" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.49040316del" "" "likely pathogenic" ""
"0000786904" "0" "70" "12" "49421715" "49421715" "subst" "0" "00006" "KMT2D_001011" "g.49421715T>G" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.49027932T>G" "" "likely pathogenic" ""
"0000805745" "0" "50" "12" "49418440" "49418440" "subst" "0" "01943" "KMT2D_001013" "g.49418440G>T" "" "" "" "KMT2D(NM_003482.3):c.15973C>A (p.P5325T), KMT2D(NM_003482.4):c.15973C>A (p.(Pro5325Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805746" "0" "30" "12" "49418717" "49418717" "subst" "0.000314708" "01943" "KMT2D_001014" "g.49418717C>T" "" "" "" "KMT2D(NM_003482.3):c.15797G>A (p.R5266H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805747" "0" "50" "12" "49420154" "49420154" "subst" "0" "01943" "KMT2D_001015" "g.49420154A>C" "" "" "" "KMT2D(NM_003482.3):c.15595T>G (p.F5199V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805748" "0" "90" "12" "49420688" "49420688" "subst" "0" "02327" "KMT2D_000188" "g.49420688G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000805749" "0" "30" "12" "49420935" "49420935" "subst" "9.549E-6" "01943" "KMT2D_001016" "g.49420935G>A" "" "" "" "KMT2D(NM_003482.3):c.14814C>T (p.T4938=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805750" "0" "30" "12" "49421834" "49421834" "subst" "4.06319E-5" "02325" "KMT2D_000599" "g.49421834G>A" "" "" "" "KMT2D(NM_003482.3):c.14473C>T (p.R4825W, p.(Arg4825Trp)), KMT2D(NM_003482.4):c.14473C>T (p.R4825W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805751" "0" "30" "12" "49425230" "49425230" "subst" "4.47544E-5" "02325" "KMT2D_001017" "g.49425230G>A" "" "" "" "KMT2D(NM_003482.4):c.13258C>T (p.R4420W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805752" "0" "30" "12" "49425544" "49425544" "subst" "0.000139185" "01943" "KMT2D_001018" "g.49425544T>C" "" "" "" "KMT2D(NM_003482.3):c.12944A>G (p.Q4315R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805753" "0" "50" "12" "49426662" "49426679" "dup" "0" "01943" "KMT2D_000276" "g.49426662_49426679dup" "" "" "" "KMT2D(NM_003482.3):c.11819_11836dupTTCAACAACAGCAGCAGC (p.L3940_Q3945dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805754" "0" "50" "12" "49426734" "49426734" "subst" "0" "01943" "KMT2D_001019" "g.49426734C>A" "" "" "" "KMT2D(NM_003482.3):c.11754G>T (p.Q3918H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805755" "0" "30" "12" "49426765" "49426770" "del" "0" "02326" "KMT2D_000287" "g.49426765_49426770del" "" "" "" "KMT2D(NM_003482.3):c.11729_11734delAGCAAC (p.Q3910_Q3911del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805756" "0" "50" "12" "49426765" "49426770" "dup" "0" "02325" "KMT2D_000838" "g.49426765_49426770dup" "" "" "" "KMT2D(NM_003482.3):c.11734_11735insAGCAAC (p.(Gln3910_Gln3911dup)), KMT2D(NM_003482.4):c.11729_11734dupAGCAAC (p.Q3910_Q3911dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805757" "0" "30" "12" "49426950" "49426950" "subst" "0" "02326" "KMT2D_000751" "g.49426950G>A" "" "" "" "KMT2D(NM_003482.3):c.11538C>T (p.G3846=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805758" "0" "90" "12" "49426997" "49426997" "subst" "0" "02325" "KMT2D_001020" "g.49426997G>A" "" "" "" "KMT2D(NM_003482.4):c.11491C>T (p.Q3831*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000805759" "0" "50" "12" "49427476" "49427476" "subst" "0" "02325" "KMT2D_001021" "g.49427476G>A" "" "" "" "KMT2D(NM_003482.4):c.11012C>T (p.P3671L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805760" "0" "30" "12" "49427979" "49427979" "subst" "0" "01943" "KMT2D_001022" "g.49427979C>T" "" "" "" "KMT2D(NM_003482.3):c.10611G>A (p.K3537=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805761" "0" "30" "12" "49428048" "49428048" "subst" "8.15089E-6" "01943" "KMT2D_001023" "g.49428048C>T" "" "" "" "KMT2D(NM_003482.3):c.10542G>A (p.L3514=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805762" "0" "50" "12" "49428228" "49428228" "subst" "4.88063E-5" "01943" "KMT2D_000629" "g.49428228C>T" "" "" "" "KMT2D(NM_003482.3):c.10472G>A (p.R3491H, p.(Arg3491His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805763" "0" "50" "12" "49431074" "49431074" "subst" "0" "02325" "KMT2D_001024" "g.49431074A>T" "" "" "" "KMT2D(NM_003482.4):c.10065T>A (p.H3355Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805764" "0" "30" "12" "49431962" "49431962" "subst" "0" "01943" "KMT2D_000842" "g.49431962A>G" "" "" "" "KMT2D(NM_003482.3):c.9177T>C (p.T3059=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805765" "0" "50" "12" "49433572" "49433572" "subst" "4.06352E-6" "02329" "KMT2D_001025" "g.49433572G>A" "" "" "" "KMT2D(NM_003482.4):c.7981C>T (p.L2661F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805766" "0" "30" "12" "49434056" "49434056" "subst" "0.000134129" "01943" "KMT2D_001026" "g.49434056G>A" "" "" "" "KMT2D(NM_003482.3):c.7497C>T (p.P2499=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805767" "0" "50" "12" "49434254" "49434254" "subst" "0" "02325" "KMT2D_001027" "g.49434254T>G" "" "" "" "KMT2D(NM_003482.4):c.7299A>C (p.E2433D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805768" "0" "30" "12" "49434338" "49434338" "subst" "2.05629E-5" "01943" "KMT2D_001028" "g.49434338G>A" "" "" "" "KMT2D(NM_003482.3):c.7215C>T (p.S2405=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805769" "0" "30" "12" "49434555" "49434555" "subst" "8.60169E-5" "02327" "KMT2D_000652" "g.49434555G>A" "" "" "" "KMT2D(NM_003482.3):c.6998C>T (p.(Pro2333Leu)), KMT2D(NM_003482.4):c.6998C>T (p.P2333L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805770" "0" "50" "12" "49434904" "49434904" "subst" "0" "02325" "KMT2D_001029" "g.49434904G>A" "" "" "" "KMT2D(NM_003482.4):c.6649C>T (p.R2217C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805771" "0" "30" "12" "49434974" "49434974" "subst" "0.000579865" "01943" "KMT2D_001030" "g.49434974C>T" "" "" "" "KMT2D(NM_003482.3):c.6579G>A (p.P2193=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805772" "0" "30" "12" "49435112" "49435112" "subst" "3.08049E-5" "01943" "KMT2D_001031" "g.49435112C>T" "" "" "" "KMT2D(NM_003482.3):c.6441G>A (p.A2147=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805773" "0" "30" "12" "49435289" "49435289" "subst" "0.000180605" "01943" "KMT2D_001032" "g.49435289G>A" "" "" "" "KMT2D(NM_003482.3):c.6264C>T (p.T2088=), KMT2D(NM_003482.4):c.6264C>T (p.T2088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805774" "0" "30" "12" "49435969" "49435969" "subst" "0" "02326" "KMT2D_001033" "g.49435969C>T" "" "" "" "KMT2D(NM_003482.3):c.6012G>A (p.Q2004=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805775" "0" "50" "12" "49437728" "49437728" "subst" "0" "02329" "KMT2D_001034" "g.49437728C>T" "" "" "" "KMT2D(NM_003482.4):c.5242G>A (p.(Gly1748Arg), p.G1748R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000805776" "0" "30" "12" "49439915" "49439915" "subst" "8.3455E-6" "01943" "KMT2D_001035" "g.49439915A>G" "" "" "" "KMT2D(NM_003482.3):c.4626T>C (p.D1542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805777" "0" "30" "12" "49440418" "49440418" "subst" "4.07714E-5" "01943" "KMT2D_000803" "g.49440418G>T" "" "" "" "KMT2D(NM_003482.3):c.4392C>A (p.V1464=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805778" "0" "70" "12" "49441833" "49441833" "subst" "0" "02327" "KMT2D_001036" "g.49441833C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000805779" "0" "30" "12" "49443806" "49443806" "subst" "0.000166608" "01943" "KMT2D_001037" "g.49443806G>A" "" "" "" "KMT2D(NM_003482.3):c.3565C>T (p.R1189C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805780" "0" "30" "12" "49444817" "49444817" "subst" "0" "01943" "KMT2D_001038" "g.49444817G>T" "" "" "" "KMT2D(NM_003482.3):c.2649C>A (p.F883L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000805781" "0" "90" "12" "49445296" "49445296" "del" "0" "02327" "KMT2D_001039" "g.49445296del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000805782" "0" "30" "12" "49445846" "49445846" "subst" "2.4427E-5" "01943" "KMT2D_001040" "g.49445846A>G" "" "" "" "KMT2D(NM_003482.3):c.1620T>C (p.P540=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000816622" "0" "90" "12" "49426583" "49426583" "subst" "0" "03830" "KMT2D_001041" "g.49426583G>A" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "" "" "pathogenic" "ACMG"
"0000823302" "0" "70" "12" "49432771" "49432771" "subst" "0" "02494" "KMT2D_001042" "g.49432771G>A" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" ""
"0000832862" "0" "70" "12" "49420661" "49420661" "subst" "0" "01164" "KMT2D_000185" "g.49420661G>A" "" "PMID: 30107592, 23320472, 23913813" "" "" "ACMG: PS4_MOD, PM5, PM6, PM2_SUP, PP3" "Germline" "?" "" "" "" "" "" "VCV000445885.3" "likely pathogenic (dominant)" "ACMG"
"0000832863" "0" "30" "12" "49431500" "49431500" "subst" "0" "01164" "KMT2D_001043" "g.49431500A>C" "" "" "" "" "ACMG: BP2, BP4" "Germline" "?" "" "" "" "" "" "" "likely benign (dominant)" "ACMG"
"0000853406" "0" "30" "12" "49420194" "49420194" "subst" "0.00104888" "01943" "KMT2D_001044" "g.49420194G>A" "" "" "" "KMT2D(NM_003482.3):c.15555C>T (p.F5185=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853407" "0" "90" "12" "49420288" "49420288" "subst" "0" "02325" "KMT2D_000158" "g.49420288C>T" "" "" "" "KMT2D(NM_003482.4):c.15461G>A (p.R5154Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853408" "0" "90" "12" "49420616" "49420616" "del" "0" "02325" "KMT2D_001045" "g.49420616del" "" "" "" "KMT2D(NM_003482.4):c.15135delG (p.P5046Lfs*5)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853409" "0" "50" "12" "49420670" "49420670" "subst" "4.06299E-6" "01943" "KMT2D_001046" "g.49420670G>C" "" "" "" "KMT2D(NM_003482.3):c.15079C>G (p.R5027G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853410" "0" "90" "12" "49426574" "49426574" "subst" "0" "02327" "KMT2D_001050" "g.49426574G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853411" "0" "90" "12" "49426798" "49426798" "subst" "0" "01943" "KMT2D_001052" "g.49426798A>C" "" "" "" "KMT2D(NM_003482.3):c.11690T>G (p.L3897*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853412" "0" "90" "12" "49428008" "49428008" "subst" "0" "02327" "KMT2D_001054" "g.49428008G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000853413" "0" "30" "12" "49431813" "49431813" "subst" "3.35951E-5" "01943" "KMT2D_001057" "g.49431813G>T" "" "" "" "KMT2D(NM_003482.3):c.9326C>A (p.P3109H, p.(Pro3109His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853414" "0" "30" "12" "49432310" "49432310" "subst" "0" "01943" "KMT2D_001058" "g.49432310G>A" "" "" "" "KMT2D(NM_003482.3):c.8829C>T (p.N2943=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853415" "0" "30" "12" "49433002" "49433002" "subst" "0" "01943" "KMT2D_001059" "g.49433002C>T" "" "" "" "KMT2D(NM_003482.3):c.8366+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853416" "0" "50" "12" "49434516" "49434516" "subst" "0" "02326" "KMT2D_001061" "g.49434516C>T" "" "" "" "KMT2D(NM_003482.3):c.7037G>A (p.G2346D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000853417" "0" "30" "12" "49435116" "49435116" "subst" "0.000207502" "01943" "KMT2D_000880" "g.49435116G>A" "" "" "" "KMT2D(NM_003482.3):c.6437C>T (p.P2146L, p.(Pro2146Leu)), KMT2D(NM_003482.4):c.6437C>T (p.P2146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853418" "0" "30" "12" "49435118" "49435118" "subst" "0" "01943" "KMT2D_001062" "g.49435118C>G" "" "" "" "KMT2D(NM_003482.3):c.6435G>C (p.P2145=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853419" "0" "30" "12" "49436089" "49436089" "subst" "5.09236E-5" "01943" "KMT2D_001063" "g.49436089C>T" "" "" "" "KMT2D(NM_003482.3):c.5892G>A (p.P1964=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853420" "0" "30" "12" "49436554" "49436554" "subst" "2.84393E-5" "02325" "KMT2D_001064" "g.49436554G>A" "" "" "" "KMT2D(NM_003482.4):c.5752C>T (p.R1918C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853421" "0" "30" "12" "49438283" "49438283" "subst" "0.000170596" "02326" "KMT2D_001066" "g.49438283G>A" "" "" "" "KMT2D(NM_003482.3):c.4986C>T (p.C1662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000853422" "0" "10" "12" "49446040" "49446040" "subst" "0.0274166" "02326" "KMT2D_000824" "g.49446040C>T" "" "" "" "KMT2D(NM_003482.3):c.1426G>A (p.A476T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000862998" "0" "30" "12" "49418435" "49418435" "subst" "0.0269803" "01804" "KMT2D_000112" "g.49418435A>C" "" "" "" "KMT2D(NM_003482.3):c.15978T>G (p.(Leu5326=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000862999" "0" "50" "12" "49420769" "49420769" "subst" "4.06309E-6" "01943" "KMT2D_001047" "g.49420769G>C" "" "" "" "KMT2D(NM_003482.3):c.14980C>G (p.L4994V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863000" "0" "90" "12" "49421688" "49421703" "del" "0" "02326" "KMT2D_001048" "g.49421688_49421703del" "" "" "" "KMT2D(NM_003482.3):c.14528_14543delAGGGTCTGGAAGGCAA (p.K4843Rfs*10)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000863001" "0" "30" "12" "49422893" "49422893" "subst" "0.000432032" "01943" "KMT2D_000733" "g.49422893G>A" "" "" "" "KMT2D(NM_003482.3):c.14202C>T (p.D4734=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863002" "0" "30" "12" "49426050" "49426050" "subst" "2.03193E-5" "01943" "KMT2D_001049" "g.49426050C>T" "" "" "" "KMT2D(NM_003482.3):c.12438G>A (p.G4146=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863003" "0" "30" "12" "49426749" "49426751" "dup" "0" "01804" "KMT2D_001051" "g.49426749_49426751dup" "" "" "" "KMT2D(NM_003482.3):c.11756_11758dup (p.(Gln3919dup)), KMT2D(NM_003482.3):c.11756_11758dupAGC (p.Q3919dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863004" "0" "30" "12" "49426905" "49426905" "subst" "0.000704659" "01943" "KMT2D_001053" "g.49426905T>C" "" "" "" "KMT2D(NM_003482.3):c.11583A>G (p.Q3861=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863005" "0" "50" "12" "49428269" "49428269" "subst" "0" "01943" "KMT2D_001055" "g.49428269G>C" "" "" "" "KMT2D(NM_003482.3):c.10441-10C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863006" "0" "50" "12" "49431576" "49431576" "subst" "2.30273E-5" "01943" "KMT2D_001056" "g.49431576G>A" "" "" "" "KMT2D(NM_003482.3):c.9563C>T (p.T3188M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863007" "0" "30" "12" "49433883" "49433883" "subst" "0.00827137" "01804" "KMT2D_000645" "g.49433883G>A" "" "" "" "KMT2D(NM_003482.3):c.7670C>T (p.P2557L, p.(Pro2557Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863008" "0" "30" "12" "49434230" "49434230" "subst" "0" "01943" "KMT2D_001060" "g.49434230G>A" "" "" "" "KMT2D(NM_003482.3):c.7323C>T (p.T2441=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863009" "0" "30" "12" "49435289" "49435289" "subst" "0.000180605" "02329" "KMT2D_001032" "g.49435289G>A" "" "" "" "KMT2D(NM_003482.3):c.6264C>T (p.T2088=), KMT2D(NM_003482.4):c.6264C>T (p.T2088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863010" "0" "30" "12" "49437990" "49437990" "subst" "0.00031809" "01943" "KMT2D_001065" "g.49437990G>A" "" "" "" "KMT2D(NM_003482.3):c.5181C>T (p.P1727=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863011" "0" "30" "12" "49438283" "49438283" "subst" "0.000170596" "01943" "KMT2D_001066" "g.49438283G>A" "" "" "" "KMT2D(NM_003482.3):c.4986C>T (p.C1662=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863012" "0" "30" "12" "49443602" "49443602" "subst" "8.53735E-5" "01943" "KMT2D_001067" "g.49443602G>A" "" "" "" "KMT2D(NM_003482.3):c.3769C>T (p.L1257=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863013" "0" "50" "12" "49443637" "49443637" "subst" "0" "01804" "KMT2D_001068" "g.49443637G>A" "" "" "" "KMT2D(NM_003482.3):c.3734C>T (p.(Ser1245Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863014" "0" "50" "12" "49444887" "49444887" "subst" "5.74257E-6" "01943" "KMT2D_001069" "g.49444887A>G" "" "" "" "KMT2D(NM_003482.3):c.2579T>C (p.L860P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000863015" "0" "30" "12" "49445563" "49445563" "subst" "2.87055E-5" "01943" "KMT2D_001070" "g.49445563T>C" "" "" "" "KMT2D(NM_003482.3):c.1903A>G (p.M635V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863016" "0" "30" "12" "49446053" "49446053" "subst" "0" "01943" "KMT2D_001071" "g.49446053A>T" "" "" "" "KMT2D(NM_003482.3):c.1413T>A (p.P471=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863017" "0" "30" "12" "49446088" "49446088" "subst" "0.000110648" "01943" "KMT2D_000693" "g.49446088G>T" "" "" "" "KMT2D(NM_003482.3):c.1378C>A (p.P460T), KMT2D(NM_003482.4):c.1378C>A (p.(Pro460Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000863018" "0" "90" "12" "49446410" "49446410" "del" "0" "02327" "KMT2D_001072" "g.49446410del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000863019" "0" "30" "12" "49446735" "49446735" "subst" "4.46722E-5" "01943" "KMT2D_001073" "g.49446735G>A" "" "" "" "KMT2D(NM_003482.3):c.1075C>T (p.R359C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000872181" "0" "90" "12" "49420871" "49420871" "subst" "0" "03779" "KMT2D_000193" "g.49420871G>A" "" "" "" "" "" "CLASSIFICATION record" "" "rs1555185969" "0" "" "" "" "" "pathogenic" ""
"0000881296" "0" "90" "12" "49433217" "49433217" "subst" "0" "02300" "KMT2D_001075" "g.49433217C>T" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1,PM2,PP3" "Germline/De novo (untested)" "" "" "0" "" "" "g.49039434C>T" "" "pathogenic (dominant)" "ACMG"
"0000881297" "0" "90" "12" "49444887" "49444887" "del" "0" "02300" "KMT2D_001076" "g.49444887del" "" "{PMID:Marinakis 2021:34008892}" "" "c.2579delT" "ACMG PVS1, PM2, PP4" "Germline/De novo (untested)" "" "" "0" "" "" "g.49051104del" "" "pathogenic (dominant)" "ACMG"
"0000881406" "0" "70" "12" "49432165" "49432165" "subst" "0" "04404" "KMT2D_001074" "g.49432165C>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.49038382C>A" "" "likely pathogenic" "ACMG"
"0000890592" "0" "90" "12" "49415908" "49415911" "del" "0" "02329" "KMT2D_000546" "g.49415908_49415911del" "" "" "" "KMT2D(NM_003482.4):c.16438_16441delAACT (p.N5480Vfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890594" "0" "90" "12" "49416618" "49416618" "subst" "0" "02329" "PRKAG1_000007" "g.49416618G>A" "" "" "" "KMT2D(NM_003482.4):c.16093C>T (p.Q5365*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890595" "0" "50" "12" "49420229" "49420229" "subst" "0" "02325" "KMT2D_001077" "g.49420229G>A" "" "" "" "KMT2D(NM_003482.4):c.15520C>T (p.R5174W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890596" "0" "50" "12" "49421038" "49421038" "subst" "0" "02329" "KMT2D_001078" "g.49421038C>G" "" "" "" "KMT2D(NM_003482.4):c.14711G>C (p.R4904P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890597" "0" "30" "12" "49421863" "49421863" "subst" "2.84347E-5" "02325" "KMT2D_001079" "g.49421863T>C" "" "" "" "KMT2D(NM_003482.4):c.14444A>G (p.Y4815C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890598" "0" "30" "12" "49423176" "49423176" "subst" "0" "02326" "KMT2D_000602" "g.49423176G>A" "" "" "" "KMT2D(NM_003482.3):c.14075+8C>T, KMT2D(NM_003482.4):c.14075+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890599" "0" "50" "12" "49423187" "49423187" "subst" "0" "02325" "KMT2D_001080" "g.49423187A>T" "" "" "" "KMT2D(NM_003482.4):c.14072T>A (p.V4691D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890600" "0" "30" "12" "49424703" "49424703" "subst" "0.00355856" "02327" "KMT2D_000607" "g.49424703G>A" "" "" "" "KMT2D(NM_003482.3):c.13644C>T (p.S4548=), KMT2D(NM_003482.4):c.13644C>T (p.(Ser4548=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890601" "0" "50" "12" "49425047" "49425047" "subst" "1.6279E-5" "02329" "KMT2D_001081" "g.49425047C>T" "" "" "" "KMT2D(NM_003482.4):c.13441G>A (p.E4481K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890602" "0" "30" "12" "49426749" "49426751" "dup" "0" "02326" "KMT2D_001051" "g.49426749_49426751dup" "" "" "" "KMT2D(NM_003482.3):c.11756_11758dup (p.(Gln3919dup)), KMT2D(NM_003482.3):c.11756_11758dupAGC (p.Q3919dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890603" "0" "30" "12" "49427108" "49427108" "subst" "0.000625616" "02325" "KMT2D_000621" "g.49427108G>A" "" "" "" "KMT2D(NM_003482.3):c.11380C>T (p.P3794S), KMT2D(NM_003482.4):c.11380C>T (p.(Pro3794Ser), p.P3794S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890604" "0" "30" "12" "49427522" "49427522" "subst" "8.98803E-5" "02325" "KMT2D_000023" "g.49427522G>A" "" "" "" "KMT2D(NM_003482.4):c.10966C>T (p.R3656C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890605" "0" "50" "12" "49427612" "49427612" "subst" "0" "02325" "KMT2D_000753" "g.49427612G>A" "" "" "" "KMT2D(NM_003482.3):c.10876C>T (p.R3626W), KMT2D(NM_003482.4):c.10876C>T (p.R3626W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890606" "0" "50" "12" "49427678" "49427695" "dup" "0" "02325" "KMT2D_000312" "g.49427678_49427695dup" "" "" "" "KMT2D(NM_003482.4):c.10803_10820dup (p.(Gln3607_Gln3612dup)), KMT2D(NM_003482.4):c.10803_10820dupACAACAGCAGCAGCAGCA (p.Q3607_Q3612dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890607" "0" "30" "12" "49428267" "49428267" "subst" "4.48698E-5" "02326" "KMT2D_001082" "g.49428267G>A" "" "" "" "KMT2D(NM_003482.3):c.10441-8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890608" "0" "90" "12" "49431307" "49431307" "subst" "0" "02325" "KMT2D_001083" "g.49431307G>A" "" "" "" "KMT2D(NM_003482.4):c.9832C>T (p.Q3278*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890609" "0" "30" "12" "49432512" "49432512" "subst" "8.53534E-6" "02326" "KMT2D_000768" "g.49432512T>G" "" "" "" "KMT2D(NM_003482.3):c.8627A>C (p.Q2876P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890610" "0" "50" "12" "49433318" "49433318" "subst" "0" "02325" "KMT2D_001084" "g.49433318G>C" "" "" "" "KMT2D(NM_003482.4):c.8129C>G (p.A2710G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890611" "0" "30" "12" "49433404" "49433404" "subst" "2.52311E-5" "02325" "KMT2D_001085" "g.49433404T>C" "" "" "" "KMT2D(NM_003482.4):c.8047-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890612" "0" "50" "12" "49433691" "49433691" "subst" "0" "02325" "KMT2D_001086" "g.49433691G>C" "" "" "" "KMT2D(NM_003482.4):c.7862C>G (p.P2621R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890613" "0" "30" "12" "49433982" "49433982" "subst" "4.50144E-5" "02325" "KMT2D_001087" "g.49433982G>A" "" "" "" "KMT2D(NM_003482.4):c.7571C>T (p.T2524M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890614" "0" "50" "12" "49434542" "49434542" "subst" "0" "02325" "KMT2D_001088" "g.49434542C>A" "" "" "" "KMT2D(NM_003482.3):c.7011G>T (p.(Gln2337His)), KMT2D(NM_003482.4):c.7011G>T (p.Q2337H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890615" "0" "90" "12" "49434686" "49434689" "del" "0" "02327" "KMT2D_001089" "g.49434686_49434689del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890616" "0" "30" "12" "49434717" "49434717" "subst" "0.000146618" "02326" "KMT2D_001090" "g.49434717C>T" "" "" "" "KMT2D(NM_003482.3):c.6836G>A (p.G2279E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890617" "0" "30" "12" "49434742" "49434742" "subst" "0.000497652" "02327" "KMT2D_000031" "g.49434742G>A" "" "" "" "KMT2D(NM_003482.3):c.6811C>T (p.P2271S, p.(Pro2271Ser)), KMT2D(NM_003482.4):c.6811C>T (p.P2271S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890618" "0" "90" "12" "49434764" "49434764" "del" "0" "02327" "KMT2D_001091" "g.49434764del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890619" "0" "30" "12" "49434784" "49434784" "subst" "3.01122E-5" "02325" "KMT2D_001092" "g.49434784C>T" "" "" "" "KMT2D(NM_003482.4):c.6769G>A (p.V2257M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890620" "0" "30" "12" "49434871" "49434871" "subst" "6.17464E-5" "02326" "KMT2D_001093" "g.49434871T>C" "" "" "" "KMT2D(NM_003482.3):c.6682A>G (p.T2228A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890621" "0" "30" "12" "49437726" "49437726" "subst" "0.000211219" "02326" "KMT2D_001094" "g.49437726C>T" "" "" "" "KMT2D(NM_003482.3):c.5244G>A (p.G1748=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890622" "0" "90" "12" "49438216" "49438216" "dup" "0" "01804" "KMT2D_000423" "g.49438216dup" "" "" "" "KMT2D(NM_003482.3):c.5058dup (p.(Arg1687Thrfs*4))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890623" "0" "90" "12" "49440418" "49440418" "dup" "0" "02325" "KMT2D_000440" "g.49440418dup" "" "" "" "KMT2D(NM_003482.4):c.4395dupC (p.K1466Qfs*25)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000890624" "0" "50" "12" "49441791" "49441791" "subst" "4.06197E-6" "02329" "KMT2D_001095" "g.49441791G>A" "" "" "" "KMT2D(NM_003482.4):c.4193C>T (p.S1398L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890625" "0" "50" "12" "49442885" "49442885" "subst" "0" "02325" "KMT2D_001096" "g.49442885T>G" "" "" "" "KMT2D(NM_003482.4):c.4020+3A>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890626" "0" "50" "12" "49442964" "49442964" "subst" "4.21937E-6" "02325" "KMT2D_001097" "g.49442964C>T" "" "" "" "KMT2D(NM_003482.4):c.3944G>A (p.R1315H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890627" "0" "30" "12" "49443916" "49443916" "subst" "2.04133E-5" "02325" "KMT2D_001098" "g.49443916G>A" "" "" "" "KMT2D(NM_003482.4):c.3455C>T (p.P1152L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890628" "0" "30" "12" "49444209" "49444209" "subst" "3.26083E-5" "02326" "KMT2D_001099" "g.49444209C>T" "" "" "" "KMT2D(NM_003482.3):c.3162G>A (p.P1054=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890629" "0" "30" "12" "49444718" "49444718" "subst" "5.30268E-6" "02326" "KMT2D_000817" "g.49444718C>T" "" "" "" "KMT2D(NM_003482.3):c.2748G>A (p.P916=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890630" "0" "30" "12" "49445978" "49445978" "subst" "3.26445E-5" "02326" "KMT2D_001100" "g.49445978C>T" "" "" "" "KMT2D(NM_003482.3):c.1488G>A (p.P496=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890631" "0" "30" "12" "49447254" "49447254" "subst" "0" "02325" "KMT2D_001101" "g.49447254C>T" "" "" "" "KMT2D(NM_003482.4):c.839+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000890632" "0" "50" "12" "49447265" "49447265" "subst" "0" "02325" "KMT2D_001102" "g.49447265G>T" "" "" "" "KMT2D(NM_003482.4):c.833C>A (p.A278D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000890633" "0" "50" "12" "49448773" "49448773" "subst" "0" "02325" "KMT2D_001103" "g.49448773G>C" "" "" "" "KMT2D(NM_003482.4):c.86C>G (p.T29S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000903134" "0" "50" "12" "49437782" "49437782" "subst" "0" "03779" "KMT2D_001107" "g.49437782C>G" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" ""
"0000903135" "0" "50" "12" "49436523" "49436523" "subst" "4.07797E-6" "03779" "KMT2D_001106" "g.49436523C>T" "" "" "" "" "" "Unknown" "" "rs766123066" "0" "" "" "" "" "VUS" ""
"0000903163" "0" "70" "12" "49427308" "49427308" "del" "0" "03698" "KMT2D_001104" "g.49427308del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.49033525del" "" "pathogenic" "ACMG"
"0000903212" "0" "90" "12" "49421714" "49421722" "delins" "0" "03779" "KMT2D_001105" "g.49421714_49421722delinsTTCCCACTCTGGTG" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000913858" "0" "30" "12" "49418614" "49418614" "subst" "5.33364E-5" "02326" "KMT2D_001108" "g.49418614G>C" "" "" "" "KMT2D(NM_003482.3):c.15900C>G (p.A5300=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913859" "0" "50" "12" "49420816" "49420816" "subst" "0" "02325" "KMT2D_001109" "g.49420816C>T" "" "" "" "KMT2D(NM_003482.4):c.14933G>A (p.(Arg4978His), p.R4978H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913860" "0" "30" "12" "49424798" "49424798" "subst" "7.31416E-5" "02325" "KMT2D_001110" "g.49424798G>C" "" "" "" "KMT2D(NM_003482.4):c.13549C>G (p.P4517A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913861" "0" "30" "12" "49425055" "49425055" "subst" "7.32297E-5" "02326" "KMT2D_000609" "g.49425055C>T" "" "" "" "KMT2D(NM_003482.3):c.13433G>A (p.R4478Q), KMT2D(NM_003482.4):c.13433G>A (p.(Arg4478Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913862" "0" "30" "12" "49425815" "49425815" "subst" "4.08117E-6" "02326" "KMT2D_000875" "g.49425815G>C" "" "" "" "KMT2D(NM_003482.3):c.12673C>G (p.L4225V), KMT2D(NM_003482.4):c.12673C>G (p.(Leu4225Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000913863" "0" "50" "12" "49425834" "49425839" "dup" "0" "02325" "KMT2D_001111" "g.49425834_49425839dup" "" "" "" "KMT2D(NM_003482.4):c.12659_12664dupAGCAGC (p.Q4220_Q4221dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913864" "0" "90" "12" "49426640" "49426640" "subst" "0" "02327" "KMT2D_001112" "g.49426640G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000913865" "0" "50" "12" "49431947" "49431947" "subst" "0" "02325" "KMT2D_001113" "g.49431947A>C" "" "" "" "KMT2D(NM_003482.4):c.9192T>G (p.D3064E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913866" "0" "50" "12" "49433811" "49433811" "subst" "0" "02325" "KMT2D_001114" "g.49433811G>T" "" "" "" "KMT2D(NM_003482.4):c.7742C>A (p.T2581K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913867" "0" "50" "12" "49436571" "49436571" "subst" "8.12367E-6" "02325" "KMT2D_001115" "g.49436571G>A" "" "" "" "KMT2D(NM_003482.4):c.5735C>T (p.P1912L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000913868" "0" "30" "12" "49444379" "49444379" "subst" "0.000472761" "02326" "KMT2D_000677" "g.49444379G>T" "" "" "" "KMT2D(NM_003482.3):c.2992C>A (p.P998T, p.(Pro998Thr)), KMT2D(NM_003482.4):c.2992C>A (p.P998T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000921844" "0" "90" "12" "49435204" "49435204" "del" "0" "00006" "KMT2D_001116" "g.49435204del" "" "{PMID:Jackson 2020:32830442}" "" "" "" "Germline" "" "" "0" "" "" "g.49041421del" "" "pathogenic (dominant)" ""
"0000925637" "0" "30" "12" "49424539" "49424539" "subst" "0" "02326" "KMT2D_001117" "g.49424539G>A" "" "" "" "KMT2D(NM_003482.3):c.13684C>T (p.L4562=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925638" "0" "90" "12" "49426763" "49426763" "dup" "0" "02327" "KMT2D_001118" "g.49426763dup" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000925639" "0" "50" "12" "49427485" "49427485" "subst" "4.06961E-6" "02325" "KMT2D_000624" "g.49427485G>T" "" "" "" "KMT2D(NM_003482.3):c.11003C>A (p.(Pro3668His)), KMT2D(NM_003482.4):c.11003C>A (p.P3668H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000925640" "0" "30" "12" "49434493" "49434493" "subst" "4.08037E-5" "02326" "KMT2D_001119" "g.49434493G>A" "" "" "" "KMT2D(NM_003482.3):c.7060C>T (p.P2354S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925641" "0" "30" "12" "49434726" "49434726" "subst" "0" "02326" "KMT2D_001120" "g.49434726G>T" "" "" "" "KMT2D(NM_003482.3):c.6827C>A (p.P2276Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925642" "0" "30" "12" "49437794" "49437794" "subst" "1.62851E-5" "02326" "KMT2D_001121" "g.49437794C>T" "" "" "" "KMT2D(NM_003482.3):c.5189-13G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925643" "0" "30" "12" "49441790" "49441790" "subst" "8.12354E-6" "02326" "KMT2D_001122" "g.49441790C>T" "" "" "" "KMT2D(NM_003482.3):c.4194G>A (p.S1398=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000925644" "0" "30" "12" "49445913" "49445913" "subst" "1.63149E-5" "02326" "KMT2D_001123" "g.49445913G>A" "" "" "" "KMT2D(NM_003482.3):c.1553C>T (p.(Ser518Leu), p.S518L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930097" "0" "50" "12" "49418607" "49418607" "subst" "8.18766E-6" "02325" "KMT2D_001124" "g.49418607G>A" "" "" "" "KMT2D(NM_003482.3):c.15907C>T (p.(Arg5303Cys)), KMT2D(NM_003482.4):c.15907C>T (p.R5303C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930098" "0" "30" "12" "49422597" "49422597" "subst" "1.22235E-5" "02326" "KMT2D_001125" "g.49422597C>T" "" "" "" "KMT2D(NM_003482.3):c.14382+14G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930099" "0" "30" "12" "49424067" "49424067" "subst" "0" "02326" "KMT2D_001126" "g.49424067C>T" "" "" "" "KMT2D(NM_003482.3):c.13995G>A (p.L4665=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930100" "0" "90" "12" "49424741" "49424741" "subst" "0" "02327" "KMT2D_000219" "g.49424741G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000930101" "0" "90" "12" "49426187" "49426187" "subst" "0" "02327" "KMT2D_000258" "g.49426187G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000930102" "0" "30" "12" "49426539" "49426539" "subst" "0.000166681" "02326" "KMT2D_001127" "g.49426539A>C" "" "" "" "KMT2D(NM_003482.3):c.11949T>G (p.T3983=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930103" "0" "50" "12" "49431465" "49431465" "subst" "0" "02325" "KMT2D_001128" "g.49431465C>A" "" "" "" "KMT2D(NM_003482.4):c.9674G>T (p.G3225V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930104" "0" "50" "12" "49440083" "49440083" "subst" "0" "02329" "KMT2D_001129" "g.49440083C>A" "" "" "" "KMT2D(NM_003482.4):c.4543G>T (p.V1515L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000930105" "0" "30" "12" "49445093" "49445093" "subst" "6.21355E-5" "02326" "KMT2D_001130" "g.49445093C>T" "" "" "" "KMT2D(NM_003482.3):c.2373G>A (p.Q791=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000930106" "0" "30" "12" "49446456" "49446456" "subst" "0.000354038" "02326" "KMT2D_000825" "g.49446456G>A" "" "" "" "KMT2D(NM_003482.3):c.1149C>T (p.D383=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000931895" "0" "90" "12" "49433509" "49433509" "subst" "0" "04087" "KMT2D_001131" "g.49433509G>A" "" "" "" "" "" "De novo" "yes" "" "" "" "" "g.49039726G>A" "" "pathogenic" "ACMG"
"0000931913" "0" "90" "12" "49427399" "49427399" "dup" "0" "04087" "KMT2D_001132" "g.49427399dup" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.49033616dup" "SCV000680278.1" "pathogenic" "ACMG"
"0000932925" "0" "90" "12" "49443619" "49443619" "dup" "0" "03779" "KMT2D_001133" "g.49443619dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" ""
"0000933929" "0" "50" "12" "49433523" "49433523" "subst" "0" "03779" "KMT2D_001134" "g.49433523A>G" "" "" "" "" "" "Unknown" "" "rs2120515514" "0" "" "" "" "" "VUS" ""
"0000935198" "0" "70" "12" "49420409" "49420409" "subst" "0" "04531" "KMT2D_001135" "g.49420409G>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49026626G>A" "" "likely pathogenic" ""
"0000939805" "0" "90" "12" "49420108" "49420108" "subst" "0" "00006" "KMT2D_000145" "g.49420108C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.49026325C>T" "" "pathogenic (dominant)" ""
"0000949961" "0" "90" "12" "49420606" "49420606" "subst" "0" "02327" "KMT2D_000180" "g.49420606C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000949962" "0" "30" "12" "49427284" "49427286" "dup" "0" "01804" "KMT2D_000752" "g.49427284_49427286dup" "" "" "" "KMT2D(NM_003482.3):c.11220_11222dup (p.(Gln3745dup)), KMT2D(NM_003482.3):c.11220_11222dupGCA (p.Q3745dup), KMT2D(NM_003482.4):c.11220_11222dupGCA ..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949963" "0" "30" "12" "49428669" "49428669" "subst" "4.06118E-6" "02326" "KMT2D_001137" "g.49428669G>A" "" "" "" "KMT2D(NM_003482.3):c.10281C>T (p.A3427=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949964" "0" "30" "12" "49431359" "49431359" "subst" "0" "02326" "KMT2D_001138" "g.49431359C>T" "" "" "" "KMT2D(NM_003482.3):c.9780G>A (p.L3260=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949965" "0" "50" "12" "49431895" "49431895" "subst" "0" "02325" "KMT2D_001139" "g.49431895G>A" "" "" "" "KMT2D(NM_003482.4):c.9244C>T (p.R3082W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949966" "0" "30" "12" "49433627" "49433627" "subst" "2.03077E-5" "02326" "KMT2D_001140" "g.49433627G>A" "" "" "" "KMT2D(NM_003482.3):c.7926C>T (p.V2642=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949967" "0" "30" "12" "49434355" "49434355" "subst" "7.78548E-5" "02325" "KMT2D_000779" "g.49434355G>C" "" "" "" "KMT2D(NM_003482.3):c.7198C>G (p.(Pro2400Ala)), KMT2D(NM_003482.4):c.7198C>G (p.P2400A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949968" "0" "30" "12" "49434910" "49434910" "subst" "0.000313713" "01804" "KMT2D_001141" "g.49434910A>T" "" "" "" "KMT2D(NM_003482.3):c.6643T>A (p.(Ser2215Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949969" "0" "30" "12" "49435289" "49435289" "subst" "0.000180605" "02326" "KMT2D_001032" "g.49435289G>A" "" "" "" "KMT2D(NM_003482.3):c.6264C>T (p.T2088=), KMT2D(NM_003482.4):c.6264C>T (p.T2088=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949970" "0" "30" "12" "49437785" "49437785" "subst" "2.43976E-5" "02325" "KMT2D_000797" "g.49437785T>C" "" "" "" "KMT2D(NM_003482.3):c.5189-4A>G, KMT2D(NM_003482.4):c.5189-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949971" "0" "50" "12" "49438225" "49438225" "subst" "8.12209E-6" "02325" "KMT2D_001142" "g.49438225C>T" "" "" "" "KMT2D(NM_003482.4):c.5044G>A (p.E1682K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949972" "0" "50" "12" "49443899" "49443899" "subst" "8.16293E-6" "02325" "KMT2D_001143" "g.49443899C>T" "" "" "" "KMT2D(NM_003482.4):c.3472G>A (p.E1158K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949973" "0" "30" "12" "49444379" "49444379" "subst" "0.000472761" "01804" "KMT2D_000677" "g.49444379G>T" "" "" "" "KMT2D(NM_003482.3):c.2992C>A (p.P998T, p.(Pro998Thr)), KMT2D(NM_003482.4):c.2992C>A (p.P998T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949974" "0" "50" "12" "49444890" "49444943" "del" "0" "02325" "KMT2D_001144" "g.49444890_49444943del" "" "" "" "KMT2D(NM_003482.4):c.2532_2585del (p.E848_E865del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949975" "0" "50" "12" "49446198" "49446198" "subst" "0" "02329" "KMT2D_001145" "g.49446198C>T" "" "" "" "KMT2D(NM_003482.4):c.1268G>A (p.G423E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949976" "0" "30" "12" "49447065" "49447065" "subst" "0.000158408" "02326" "KMT2D_000827" "g.49447065C>T" "" "" "" "KMT2D(NM_003482.3):c.879G>A (p.T293=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000949977" "0" "50" "12" "49447878" "49447878" "subst" "0" "02325" "KMT2D_001146" "g.49447878A>G" "" "" "" "KMT2D(NM_003482.4):c.556T>C (p.S186P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000949978" "0" "30" "12" "49449075" "49449075" "subst" "4.06111E-5" "02326" "KMT2D_001147" "g.49449075T>A" "" "" "" "KMT2D(NM_003482.3):c.33A>T (p.K11N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000952247" "0" "70" "12" "49427932" "49427932" "subst" "0" "00006" "KMT2D_001136" "g.49427932C>A" "" "{PMID:Imafidon 2021:34136434}" "" "" "" "De novo" "" "" "0" "" "" "g.49034149C>A" "" "VUS" ""
"0000957704" "0" "70" "12" "49425353" "49425353" "subst" "0" "00006" "KMT2D_001148" "g.49425353G>A" "" "{PMID:Szakszon 2024:37580113}" "" "Pro4379Ser" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.49031570G>A" "" "VUS" ""
"0000966935" "0" "30" "12" "49420913" "49420913" "subst" "6.33937E-5" "02326" "KMT2D_000927" "g.49420913C>T" "" "" "" "KMT2D(NM_003482.3):c.14836G>A (p.V4946I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966936" "0" "30" "12" "49427612" "49427612" "subst" "0" "02326" "KMT2D_000753" "g.49427612G>A" "" "" "" "KMT2D(NM_003482.3):c.10876C>T (p.R3626W), KMT2D(NM_003482.4):c.10876C>T (p.R3626W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000966941" "0" "30" "12" "49444960" "49444960" "subst" "0.000217967" "01804" "KMT2D_001150" "g.49444960G>T" "" "" "" "KMT2D(NM_003482.3):c.2506C>A (p.(Gln836Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980292" "0" "70" "12" "49420408" "49420408" "subst" "0" "02329" "KMT2D_001151" "g.49420408T>C" "" "" "" "KMT2D(NM_003482.4):c.15341A>G (p.H5114R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000980293" "0" "90" "12" "49420670" "49420670" "subst" "0" "01804" "KMT2D_000022" "g.49420670G>A" "" "" "" "KMT2D(NM_003482.3):c.15079C>T (p.(Arg5027*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000980294" "0" "50" "12" "49420816" "49420816" "subst" "0" "01804" "KMT2D_001109" "g.49420816C>T" "" "" "" "KMT2D(NM_003482.4):c.14933G>A (p.(Arg4978His), p.R4978H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980295" "0" "30" "12" "49424190" "49424190" "subst" "0" "01804" "KMT2D_001152" "g.49424190C>T" "" "" "" "KMT2D(NM_003482.4):c.13872G>A (p.(Ser4624=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980296" "0" "50" "12" "49424406" "49424406" "subst" "0" "02325" "KMT2D_001153" "g.49424406T>C" "" "" "" "KMT2D(NM_003482.4):c.13817A>G (p.Y4606C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980297" "0" "50" "12" "49424500" "49424500" "subst" "1.62836E-5" "01804" "KMT2D_001003" "g.49424500G>T" "" "" "" "KMT2D(NM_003482.4):c.13723C>A (p.(Leu4575Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980298" "0" "30" "12" "49425417" "49425417" "subst" "1.33602E-5" "01804" "KMT2D_001154" "g.49425417C>G" "" "" "" "KMT2D(NM_003482.4):c.13071G>C (p.(Arg4357Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980299" "0" "70" "12" "49425488" "49425512" "del" "0" "01804" "KMT2D_000972" "g.49425488_49425512del" "" "" "" "KMT2D(NM_003482.4):c.12986_13010del (p.(Gln4329Leufs*47))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000980300" "0" "30" "12" "49425776" "49425776" "subst" "0.000153998" "01804" "KMT2D_001155" "g.49425776G>A" "" "" "" "KMT2D(NM_003482.4):c.12712C>T (p.(Arg4238Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980301" "0" "50" "12" "49426801" "49426801" "subst" "0" "01804" "KMT2D_001156" "g.49426801G>T" "" "" "" "KMT2D(NM_003482.4):c.11687C>A (p.(Ser3896Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980302" "0" "50" "12" "49427281" "49427286" "del" "0" "01804" "KMT2D_001157" "g.49427281_49427286del" "" "" "" "KMT2D(NM_003482.4):c.11217_11222del (p.(Gln3744_Gln3745del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980303" "0" "50" "12" "49427545" "49427545" "subst" "0" "01804" "KMT2D_001158" "g.49427545G>T" "" "" "" "KMT2D(NM_003482.4):c.10943C>A (p.(Pro3648Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980304" "0" "10" "12" "49427919" "49427919" "subst" "0.0461502" "01804" "KMT2D_000087" "g.49427919T>C" "" "" "" "KMT2D(NM_003482.4):c.10671A>G (p.(Pro3557=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000980305" "0" "50" "12" "49428064" "49428064" "subst" "0" "01804" "KMT2D_001159" "g.49428064T>A" "" "" "" "KMT2D(NM_003482.3):c.10526A>T (p.(Gln3509Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980306" "0" "30" "12" "49431462" "49431462" "subst" "0" "01804" "KMT2D_001160" "g.49431462G>A" "" "" "" "KMT2D(NM_003482.4):c.9677C>T (p.(Pro3226Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980307" "0" "30" "12" "49433114" "49433114" "subst" "4.08023E-6" "01804" "KMT2D_001161" "g.49433114G>A" "" "" "" "KMT2D(NM_003482.4):c.8257C>T (p.(Pro2753Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980308" "0" "30" "12" "49433266" "49433266" "subst" "0" "01804" "KMT2D_001162" "g.49433266A>G" "" "" "" "KMT2D(NM_003482.4):c.8181T>C (p.(Pro2727=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980309" "0" "30" "12" "49433285" "49433285" "subst" "0.000103051" "01804" "KMT2D_001163" "g.49433285C>T" "" "" "" "KMT2D(NM_003482.4):c.8162G>A (p.(Gly2721Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980310" "0" "30" "12" "49433511" "49433511" "subst" "2.04566E-5" "01804" "KMT2D_001164" "g.49433511C>T" "" "" "" "KMT2D(NM_003482.3):c.8042G>A (p.(Arg2681Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980311" "0" "30" "12" "49433848" "49433848" "subst" "0.00061924" "01804" "KMT2D_000644" "g.49433848C>T" "" "" "" "KMT2D(NM_003482.3):c.7705G>A (p.G2569S), KMT2D(NM_003482.4):c.7705G>A (p.(Gly2569Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980312" "0" "30" "12" "49434424" "49434424" "subst" "2.03593E-5" "01804" "KMT2D_000847" "g.49434424G>A" "" "" "" "KMT2D(NM_003482.3):c.7129C>T (p.P2377S), KMT2D(NM_003482.4):c.7129C>T (p.(Pro2377Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980313" "0" "50" "12" "49434649" "49434649" "subst" "4.06851E-6" "01804" "KMT2D_001165" "g.49434649G>A" "" "" "" "KMT2D(NM_003482.4):c.6904C>T (p.(Pro2302Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980314" "0" "50" "12" "49434657" "49434657" "subst" "4.0663E-6" "02325" "KMT2D_001166" "g.49434657T>C" "" "" "" "KMT2D(NM_003482.4):c.6896A>G (p.Y2299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980315" "0" "50" "12" "49434855" "49434855" "subst" "0" "01804" "KMT2D_001167" "g.49434855G>C" "" "" "" "KMT2D(NM_003482.4):c.6698C>G (p.(Thr2233Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980316" "0" "90" "12" "49435318" "49435318" "subst" "0" "02327" "KMT2D_001168" "g.49435318G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0000980317" "0" "50" "12" "49436365" "49436365" "subst" "0" "01804" "KMT2D_001169" "g.49436365T>C" "" "" "" "KMT2D(NM_003482.4):c.5846A>G (p.(Gln1949Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980318" "0" "30" "12" "49437785" "49437785" "subst" "2.43976E-5" "01804" "KMT2D_000797" "g.49437785T>C" "" "" "" "KMT2D(NM_003482.3):c.5189-4A>G, KMT2D(NM_003482.4):c.5189-4A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980319" "0" "30" "12" "49440462" "49440462" "subst" "1.62534E-5" "01804" "KMT2D_001170" "g.49440462T>C" "" "" "" "KMT2D(NM_003482.4):c.4348A>G (p.(Ile1450Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980320" "0" "30" "12" "49443459" "49443459" "subst" "0" "01804" "KMT2D_001171" "g.49443459C>T" "" "" "" "KMT2D(NM_003482.4):c.3906+6G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980321" "0" "30" "12" "49443694" "49443694" "subst" "0" "01804" "KMT2D_001172" "g.49443694A>G" "" "" "" "KMT2D(NM_003482.4):c.3677T>C (p.(Leu1226Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980322" "0" "50" "12" "49445220" "49445246" "del" "0" "01804" "KMT2D_000883" "g.49445220_49445246del" "" "" "" "KMT2D(NM_003482.3):c.2232_2258delACCCCGGCCTGAGGAGCCGCACCTGTC (p.R755_P763del), KMT2D(NM_003482.4):c.2232_2258del (p.(Arg755_Pro763del)), KMT2D(NM_...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980323" "0" "30" "12" "49445646" "49445646" "subst" "4.87409E-5" "01804" "KMT2D_001173" "g.49445646G>A" "" "" "" "KMT2D(NM_003482.4):c.1820C>T (p.(Pro607Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000980324" "0" "50" "12" "49445925" "49445925" "subst" "0" "01804" "KMT2D_001174" "g.49445925G>A" "" "" "" "KMT2D(NM_003482.4):c.1541C>T (p.(Pro514Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980325" "0" "50" "12" "49446009" "49446009" "subst" "4.07631E-6" "02327" "KMT2D_001175" "g.49446009G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980326" "0" "50" "12" "49446097" "49446097" "subst" "4.54595E-6" "02329" "KMT2D_001176" "g.49446097G>A" "" "" "" "KMT2D(NM_003482.4):c.1369C>T (p.P457S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980327" "0" "50" "12" "49446169" "49446169" "subst" "0" "01804" "KMT2D_001177" "g.49446169G>A" "" "" "" "KMT2D(NM_003482.4):c.1297C>T (p.(Pro433Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000980328" "0" "30" "12" "49447416" "49447416" "subst" "0.000448234" "01804" "KMT2D_001178" "g.49447416G>C" "" "" "" "KMT2D(NM_003482.4):c.682C>G (p.(Arg228Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000076" "0" "30" "12" "49392226" "49392226" "subst" "0.000732191" "01804" "DDN_000002" "g.49392226G>A" "" "" "" "DDN(NM_015086.1):c.433C>T (p.(Pro145Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000077" "0" "50" "12" "49418607" "49418607" "subst" "8.18766E-6" "01804" "KMT2D_001124" "g.49418607G>A" "" "" "" "KMT2D(NM_003482.3):c.15907C>T (p.(Arg5303Cys)), KMT2D(NM_003482.4):c.15907C>T (p.R5303C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000078" "0" "30" "12" "49418678" "49418678" "subst" "0" "01804" "KMT2D_001179" "g.49418678T>G" "" "" "" "KMT2D(NM_003482.3):c.15836A>C (p.(Asp5279Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000079" "0" "30" "12" "49420018" "49420018" "subst" "1.22196E-5" "01804" "KMT2D_001180" "g.49420018T>C" "" "" "" "KMT2D(NM_003482.3):c.15731A>G (p.(Lys5244Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000080" "0" "50" "12" "49420090" "49420090" "subst" "8.12414E-6" "01804" "KMT2D_001181" "g.49420090C>T" "" "" "" "KMT2D(NM_003482.3):c.15659G>A (p.(Arg5220His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000081" "0" "50" "12" "49420663" "49420663" "subst" "1.62514E-5" "01804" "KMT2D_001182" "g.49420663A>G" "" "" "" "KMT2D(NM_003482.3):c.15086T>C (p.(Met5029Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000082" "0" "30" "12" "49420745" "49420745" "subst" "3.65634E-5" "01804" "KMT2D_000728" "g.49420745G>A" "" "" "" "KMT2D(NM_003482.3):c.15004C>T (p.R5002W, p.(Arg5002Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000083" "0" "30" "12" "49422679" "49422679" "subst" "0" "01804" "KMT2D_001183" "g.49422679T>C" "" "" "" "KMT2D(NM_003482.3):c.14314A>G (p.(Thr4772Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000084" "0" "50" "12" "49422898" "49422898" "subst" "1.62856E-5" "01804" "KMT2D_000734" "g.49422898C>T" "" "" "" "KMT2D(NM_003482.3):c.14197G>A (p.E4733K, p.(Glu4733Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000085" "0" "30" "12" "49424098" "49424098" "subst" "3.52165E-5" "01804" "KMT2D_001184" "g.49424098G>A" "" "" "" "KMT2D(NM_003482.3):c.13964C>T (p.(Ala4655Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000086" "0" "30" "12" "49425487" "49425487" "subst" "4.92413E-5" "01804" "KMT2D_001185" "g.49425487G>A" "" "" "" "KMT2D(NM_003482.3):c.13001C>T (p.(Ala4334Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000087" "0" "30" "12" "49425599" "49425599" "subst" "0.000192787" "01804" "KMT2D_001186" "g.49425599A>G" "" "" "" "KMT2D(NM_003482.3):c.12889T>C (p.(Ser4297Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000088" "0" "30" "12" "49425673" "49425673" "subst" "4.44173E-5" "01804" "KMT2D_001187" "g.49425673C>T" "" "" "" "KMT2D(NM_003482.3):c.12815G>A (p.(Gly4272Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000089" "0" "30" "12" "49425806" "49425806" "subst" "7.37699E-5" "02325" "KMT2D_000739" "g.49425806G>C" "" "" "" "KMT2D(NM_003482.3):c.12682C>G (p.Q4228E, p.(Gln4228Glu)), KMT2D(NM_003482.4):c.12682C>G (p.Q4228E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000090" "0" "30" "12" "49425837" "49425839" "dup" "0" "01804" "KMT2D_000740" "g.49425837_49425839dup" "" "" "" "KMT2D(NM_003482.3):c.12662_12664dupAGC (p.(Gln4221dup)), KMT2D(NM_003482.3):c.12662_12664dupAGC (p.Q4221dup), KMT2D(NM_003482.4):c.12662_12664dupAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000091" "0" "30" "12" "49426259" "49426259" "subst" "2.9064E-5" "01804" "KMT2D_000864" "g.49426259G>A" "" "" "" "KMT2D(NM_003482.3):c.12229C>T (p.(Leu4077Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000092" "0" "30" "12" "49426469" "49426469" "subst" "4.08007E-6" "01804" "KMT2D_001188" "g.49426469G>T" "" "" "" "KMT2D(NM_003482.3):c.12019C>A (p.(Gln4007Lys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000093" "0" "30" "12" "49426606" "49426606" "subst" "0" "01804" "KMT2D_001189" "g.49426606T>G" "" "" "" "KMT2D(NM_003482.3):c.11882A>C (p.(Gln3961Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000094" "0" "30" "12" "49426620" "49426637" "del" "0" "01804" "KMT2D_000898" "g.49426620_49426637del" "" "" "" "KMT2D(NM_003482.3):c.11862_11879delGCTACAACAGCAACAGCA (p.(Leu3955_Gln3960del)), KMT2D(NM_003482.4):c.11862_11879delGCTACAACAGCAACAGCA (p.L3955_Q39...)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000095" "0" "30" "12" "49426755" "49426790" "del" "0" "01804" "KMT2D_001190" "g.49426755_49426790del" "" "" "" "KMT2D(NM_003482.3):c.11717_11752delTGCAACAGCAACAGCAACTTCAGCAGCAGCAGCAGC (p.(Leu3906_Gln3917del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000096" "0" "30" "12" "49426785" "49426787" "dup" "0" "01804" "KMT2D_000036" "g.49426785_49426787dup" "" "" "" "KMT2D(NM_003482.3):c.11714_11716dupAGC (p.(Gln3905dup)), KMT2D(NM_003482.3):c.11714_11716dupAGC (p.Q3905dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000097" "0" "50" "12" "49427309" "49427309" "subst" "3.67095E-5" "02326" "KMT2D_001191" "g.49427309G>A" "" "" "" "KMT2D(NM_003482.3):c.11179C>T (p.R3727C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000098" "0" "30" "12" "49427368" "49427368" "subst" "2.03605E-5" "01804" "KMT2D_001192" "g.49427368C>T" "" "" "" "KMT2D(NM_003482.3):c.11120G>A (p.(Arg3707Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000099" "0" "50" "12" "49427503" "49427503" "subst" "0" "01804" "KMT2D_001193" "g.49427503A>G" "" "" "" "KMT2D(NM_003482.3):c.10985T>C (p.(Met3662Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000100" "0" "30" "12" "49428694" "49428694" "subst" "0.00159201" "02327" "KMT2D_000630" "g.49428694T>C" "" "" "" "KMT2D(NM_003482.3):c.10256A>G (p.D3419G), KMT2D(NM_003482.4):c.10256A>G (p.(Asp3419Gly), p.D3419G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000101" "0" "50" "12" "49431304" "49431305" "ins" "6.95533E-5" "01804" "KMT2D_001194" "g.49431304_49431305insCTGCTC" "" "" "" "KMT2D(NM_003482.3):c.9834_9835insGAGCAG (p.(Gln3278_Gln3279insGluGln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000102" "0" "30" "12" "49431759" "49431759" "subst" "0" "01804" "KMT2D_001195" "g.49431759C>T" "" "" "" "KMT2D(NM_003482.3):c.9380G>A (p.(Arg3127His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000103" "0" "30" "12" "49431810" "49431810" "subst" "0" "01804" "KMT2D_001196" "g.49431810C>T" "" "" "" "KMT2D(NM_003482.3):c.9329G>A (p.(Arg3110His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000104" "0" "30" "12" "49431813" "49431813" "subst" "3.35951E-5" "01804" "KMT2D_001057" "g.49431813G>T" "" "" "" "KMT2D(NM_003482.3):c.9326C>A (p.P3109H, p.(Pro3109His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000105" "0" "30" "12" "49431844" "49431844" "subst" "2.46384E-5" "01804" "KMT2D_000639" "g.49431844G>A" "" "" "" "KMT2D(NM_003482.3):c.9295C>T (p.R3099C, p.(Arg3099Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000106" "0" "30" "12" "49432153" "49432153" "subst" "4.06204E-6" "01804" "KMT2D_001197" "g.49432153C>T" "" "" "" "KMT2D(NM_003482.3):c.8986G>A (p.(Asp2996Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000107" "0" "30" "12" "49432309" "49432309" "subst" "0" "01804" "KMT2D_001198" "g.49432309T>C" "" "" "" "KMT2D(NM_003482.3):c.8830A>G (p.(Asn2944Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000108" "0" "30" "12" "49432365" "49432365" "subst" "0.00167696" "01804" "KMT2D_000341" "g.49432365G>A" "" "" "" "KMT2D(NM_003482.3):c.8774C>T (p.A2925V, p.(Ala2925Val)), KMT2D(NM_003482.4):c.8774C>T (p.A2925V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000109" "0" "30" "12" "49432375" "49432375" "subst" "3.26389E-5" "01804" "KMT2D_001199" "g.49432375G>A" "" "" "" "KMT2D(NM_003482.3):c.8764C>T (p.(Arg2922Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000110" "0" "30" "12" "49432426" "49432426" "subst" "0" "01804" "KMT2D_001200" "g.49432426G>A" "" "" "" "KMT2D(NM_003482.3):c.8713C>T (p.(Arg2905Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000111" "0" "50" "12" "49432513" "49432513" "subst" "0" "01804" "KMT2D_001201" "g.49432513G>A" "" "" "" "KMT2D(NM_003482.3):c.8626C>T (p.(Gln2876*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000112" "0" "50" "12" "49433244" "49433244" "subst" "0" "01804" "KMT2D_001202" "g.49433244C>A" "" "" "" "KMT2D(NM_003482.3):c.8203G>T (p.(Gly2735Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000113" "0" "30" "12" "49433890" "49433890" "subst" "1.62982E-5" "01804" "KMT2D_001203" "g.49433890C>T" "" "" "" "KMT2D(NM_003482.3):c.7663G>A (p.(Gly2555Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000114" "0" "30" "12" "49434090" "49434090" "subst" "0" "01804" "KMT2D_001204" "g.49434090G>A" "" "" "" "KMT2D(NM_003482.3):c.7463C>T (p.(Ser2488Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000115" "0" "30" "12" "49434324" "49434324" "subst" "0" "01804" "KMT2D_001205" "g.49434324C>G" "" "" "" "KMT2D(NM_003482.3):c.7229G>C (p.(Arg2410Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000116" "0" "30" "12" "49434352" "49434352" "subst" "3.69334E-5" "01804" "KMT2D_001206" "g.49434352G>A" "" "" "" "KMT2D(NM_003482.3):c.7201C>T (p.(Arg2401Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000117" "0" "30" "12" "49434444" "49434444" "subst" "4.47857E-5" "02325" "KMT2D_001207" "g.49434444C>T" "" "" "" "KMT2D(NM_003482.4):c.7109G>A (p.R2370H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000118" "0" "30" "12" "49434492" "49434492" "subst" "2.04017E-5" "02325" "KMT2D_001208" "g.49434492G>A" "" "" "" "KMT2D(NM_003482.4):c.7061C>T (p.P2354L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000119" "0" "50" "12" "49434522" "49434522" "subst" "2.45738E-5" "01804" "KMT2D_000997" "g.49434522C>T" "" "" "" "KMT2D(NM_003482.3):c.7031G>A (p.(Gly2344Asp)), KMT2D(NM_003482.4):c.7031G>A (p.G2344D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000120" "0" "30" "12" "49434525" "49434525" "subst" "2.05036E-5" "01804" "KMT2D_001209" "g.49434525G>A" "" "" "" "KMT2D(NM_003482.3):c.7028C>T (p.(Pro2343Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000121" "0" "50" "12" "49434542" "49434542" "subst" "0" "01804" "KMT2D_001088" "g.49434542C>A" "" "" "" "KMT2D(NM_003482.3):c.7011G>T (p.(Gln2337His)), KMT2D(NM_003482.4):c.7011G>T (p.Q2337H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000122" "0" "30" "12" "49434664" "49434664" "subst" "1.21971E-5" "01804" "KMT2D_001210" "g.49434664G>A" "" "" "" "KMT2D(NM_003482.3):c.6889C>T (p.(Pro2297Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000123" "0" "50" "12" "49434763" "49434763" "subst" "0" "01804" "KMT2D_001211" "g.49434763C>G" "" "" "" "KMT2D(NM_003482.3):c.6790G>C (p.(Gly2264Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000124" "0" "30" "12" "49434820" "49434820" "subst" "0.0011608" "01804" "KMT2D_000656" "g.49434820G>C" "" "" "" "KMT2D(NM_003482.3):c.6733C>G (p.L2245V, p.(Leu2245Val)), KMT2D(NM_003482.4):c.6733C>G (p.L2245V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000125" "0" "30" "12" "49434945" "49434945" "subst" "0" "01804" "KMT2D_001212" "g.49434945G>A" "" "" "" "KMT2D(NM_003482.3):c.6608C>T (p.(Thr2203Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000126" "0" "90" "12" "49434958" "49434958" "del" "0" "02329" "KMT2D_000388" "g.49434958del" "" "" "" "KMT2D(NM_003482.4):c.6595delT (p.Y2199Ifs*65)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001000127" "0" "30" "12" "49435032" "49435032" "subst" "0" "01804" "KMT2D_001213" "g.49435032T>C" "" "" "" "KMT2D(NM_003482.3):c.6521A>G (p.(Gln2174Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000128" "0" "30" "12" "49435116" "49435116" "subst" "0.000207502" "01804" "KMT2D_000880" "g.49435116G>A" "" "" "" "KMT2D(NM_003482.3):c.6437C>T (p.P2146L, p.(Pro2146Leu)), KMT2D(NM_003482.4):c.6437C>T (p.P2146L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000129" "0" "50" "12" "49436547" "49436547" "subst" "0" "01804" "KMT2D_001214" "g.49436547G>A" "" "" "" "KMT2D(NM_003482.3):c.5759C>T (p.(Pro1920Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000130" "0" "30" "12" "49436854" "49436854" "subst" "0" "01804" "KMT2D_001215" "g.49436854C>T" "" "" "" "KMT2D(NM_003482.3):c.5644+5G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000131" "0" "90" "12" "49436875" "49436878" "del" "0" "02327" "KMT2D_000411" "g.49436875_49436878del" "" "" "" "KMT2D(NM_003482.4):c.5627_5630delACAG (p.D1876Gfs*38)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001000132" "0" "30" "12" "49437423" "49437423" "subst" "1.21923E-5" "01804" "KMT2D_000921" "g.49437423T>C" "" "" "" "KMT2D(NM_003482.3):c.5462A>G (p.Q1821R, p.(Gln1821Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000133" "0" "50" "12" "49438039" "49438039" "subst" "8.12526E-6" "01804" "KMT2D_001216" "g.49438039T>C" "" "" "" "KMT2D(NM_003482.3):c.5132A>G (p.(Lys1711Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000134" "0" "50" "12" "49438640" "49438640" "subst" "4.06088E-6" "01804" "KMT2D_001217" "g.49438640C>T" "" "" "" "KMT2D(NM_003482.3):c.4850G>A (p.(Arg1617Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000135" "0" "50" "12" "49439902" "49439902" "subst" "8.35673E-6" "01804" "KMT2D_001218" "g.49439902C>T" "" "" "" "KMT2D(NM_003482.3):c.4639G>A (p.(Ala1547Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000136" "0" "70" "12" "49440205" "49440205" "subst" "0" "01804" "KMT2D_001219" "g.49440205C>T" "" "" "" "KMT2D(NM_003482.3):c.4421G>A (p.(Cys1474Tyr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0001000137" "0" "50" "12" "49442908" "49442908" "subst" "3.29989E-5" "01804" "KMT2D_001220" "g.49442908A>C" "" "" "" "KMT2D(NM_003482.3):c.4000T>G (p.(Ser1334Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000138" "0" "50" "12" "49443769" "49443769" "subst" "0" "01804" "KMT2D_001221" "g.49443769T>G" "" "" "" "KMT2D(NM_003482.3):c.3602A>C (p.(Lys1201Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000139" "0" "30" "12" "49443979" "49443979" "subst" "0.00118135" "01804" "KMT2D_000057" "g.49443979G>A" "" "" "" "KMT2D(NM_003482.3):c.3392C>T (p.P1131L, p.(Pro1131Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000140" "0" "30" "12" "49444178" "49444178" "subst" "2.44978E-5" "01804" "KMT2D_000965" "g.49444178A>T" "" "" "" "KMT2D(NM_003482.3):c.3193T>A (p.(Ser1065Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000141" "0" "30" "12" "49444932" "49444932" "subst" "1.73382E-5" "01804" "KMT2D_001222" "g.49444932C>T" "" "" "" "KMT2D(NM_003482.3):c.2534G>A (p.(Arg845Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000142" "0" "50" "12" "49445230" "49445230" "subst" "4.97418E-5" "01804" "KMT2D_000856" "g.49445230G>A" "" "" "" "KMT2D(NM_003482.3):c.2236C>T (p.(Arg746Trp), p.R746W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000143" "0" "50" "12" "49445544" "49445544" "subst" "4.0872E-6" "01804" "KMT2D_001223" "g.49445544T>C" "" "" "" "KMT2D(NM_003482.3):c.1922A>G (p.(Glu641Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000144" "0" "30" "12" "49445913" "49445913" "subst" "1.63149E-5" "01804" "KMT2D_001123" "g.49445913G>A" "" "" "" "KMT2D(NM_003482.3):c.1553C>T (p.(Ser518Leu), p.S518L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000145" "0" "50" "12" "49445961" "49445961" "subst" "0" "01804" "KMT2D_001224" "g.49445961G>A" "" "" "" "KMT2D(NM_003482.3):c.1505C>T (p.(Pro502Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001000146" "0" "30" "12" "49446093" "49446119" "del" "0" "01804" "KMT2D_001225" "g.49446093_49446119del" "" "" "" "KMT2D(NM_003482.3):c.1364_1390delAATCACCCACGTCCCCACCACCTGAGG (p.(Glu455_Glu463del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000147" "0" "30" "12" "49446158" "49446160" "del" "0" "01804" "KMT2D_001226" "g.49446158_49446160del" "" "" "" "KMT2D(NM_003482.3):c.1309_1311delGAG (p.(Glu437del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000148" "0" "30" "12" "49446464" "49446464" "subst" "8.13915E-6" "01804" "KMT2D_001227" "g.49446464G>A" "" "" "" "KMT2D(NM_003482.3):c.1141C>T (p.(Pro381Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000149" "0" "30" "12" "49446736" "49446736" "subst" "8.12196E-6" "01804" "KMT2D_001228" "g.49446736G>C" "" "" "" "KMT2D(NM_003482.3):c.1074C>G (p.(Ile358Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000150" "0" "30" "12" "49446767" "49446767" "subst" "1.21832E-5" "01804" "KMT2D_001229" "g.49446767C>T" "" "" "" "KMT2D(NM_003482.3):c.1043G>A (p.(Arg348His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001000151" "0" "50" "12" "49447025" "49447025" "subst" "4.06098E-6" "01804" "KMT2D_001230" "g.49447025T>C" "" "" "" "KMT2D(NM_003482.3):c.919A>G (p.(Met307Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001007518" "0" "70" "12" "49437719" "49437721" "del" "0" "00006" "KMT2D_001232" "g.49437719_49437721del" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs886049482" "0" "" "" "g.49043936_49043938del" "" "VUS" ""
"0001007559" "0" "70" "12" "49437670" "49437670" "subst" "0" "00006" "KMT2D_001231" "g.49437670A>T" "" "{PMID:Mansoorshahi 2024:39226896}" "" "" "" "Germline" "" "rs1267516894" "0" "" "" "g.49043887A>T" "" "VUS" ""
"0001011958" "0" "90" "12" "49426021" "49426021" "del" "0" "00006" "KMT2D_001233" "g.49426021del" "" "{PMID:Salinas 2020:33084218}" "" "12468delA" "" "Unknown" "" "" "0" "" "" "g.49032238del" "SUB7802952" "pathogenic" ""
"0001014981" "0" "90" "12" "49420213" "49420213" "subst" "0" "02326" "KMT2D_000154" "g.49420213C>T" "" "" "" "KMT2D(NM_003482.3):c.15536G>A (p.R5179H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001014982" "0" "10" "12" "49430947" "49430947" "subst" "0.00875387" "02327" "KMT2D_000032" "g.49430947T>C" "" "" "" "KMT2D(NM_003482.3):c.10192A>G (p.(Met3398Val), p.M3398V), KMT2D(NM_003482.4):c.10192A>G (p.M3398V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001014983" "0" "50" "12" "49433766" "49433766" "subst" "1.63384E-5" "02325" "KMT2D_001234" "g.49433766G>A" "" "" "" "KMT2D(NM_003482.4):c.7787C>T (p.P2596L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001014984" "0" "10" "12" "49445392" "49445392" "subst" "0.00349459" "02327" "KMT2D_000683" "g.49445392G>T" "" "" "" "KMT2D(NM_003482.3):c.2074C>A (p.P692T, p.(Pro692Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001014985" "0" "90" "12" "49448705" "49448705" "subst" "0" "02327" "KMT2D_001235" "g.49448705G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001017474" "0" "70" "12" "49448683" "49448683" "del" "0" "03544" "KMT2D_001236" "g.49448683del" "" "" "" "" "detected in a fetus with congenital heart defect (double outlet right ventricle)" "De novo" "-" "" "0" "" "" "g.49054900del" "{CV:3378408}" "likely pathogenic (dominant)" "ACMG"
"0001017477" "0" "90" "12" "49427678" "49427678" "subst" "0" "03544" "KMT2D_001237" "g.49427678G>A" "" "" "" "" "" "De novo" "-" "rs1060499552" "0" "" "" "g.49033895G>A" "{CV:417814}" "pathogenic (dominant)" "ACMG"
"0001017823" "0" "90" "12" "49438672" "49438672" "dup" "0" "03544" "KMT2D_001238" "g.49438672dup" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.49044889dup" "{CV:3383974}" "pathogenic" "ACMG"
"0001026184" "0" "50" "12" "49420853" "49420853" "subst" "1.22226E-5" "02325" "KMT2D_001239" "g.49420853G>A" "" "" "" "KMT2D(NM_003482.4):c.14896C>T (p.R4966W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026185" "0" "50" "12" "49422900" "49422900" "subst" "0" "02325" "KMT2D_001240" "g.49422900T>C" "" "" "" "KMT2D(NM_003482.4):c.14195A>G (p.Q4732R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026186" "0" "90" "12" "49426613" "49426613" "subst" "0" "02329" "KMT2D_001241" "g.49426613G>A" "" "" "" "KMT2D(NM_003482.4):c.11875C>T (p.Q3959*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001026187" "0" "50" "12" "49427924" "49427924" "subst" "0" "02325" "KMT2D_001242" "g.49427924A>G" "" "" "" "KMT2D(NM_003482.4):c.10666T>C (p.F3556L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026188" "0" "50" "12" "49433866" "49433866" "subst" "0" "02325" "KMT2D_001243" "g.49433866T>G" "" "" "" "KMT2D(NM_003482.4):c.7687A>C (p.N2563H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001026189" "0" "30" "12" "49434555" "49434555" "subst" "8.60169E-5" "02325" "KMT2D_000652" "g.49434555G>A" "" "" "" "KMT2D(NM_003482.3):c.6998C>T (p.(Pro2333Leu)), KMT2D(NM_003482.4):c.6998C>T (p.P2333L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026190" "0" "30" "12" "49434980" "49434980" "subst" "0.00190746" "02327" "KMT2D_000659" "g.49434980C>T" "" "" "" "KMT2D(NM_003482.3):c.6573G>A (p.T2191=), KMT2D(NM_003482.4):c.6573G>A (p.T2191=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001026191" "0" "30" "12" "49446070" "49446070" "subst" "4.21977E-5" "02325" "KMT2D_000967" "g.49446070G>A" "" "" "" "KMT2D(NM_003482.4):c.1396C>T (p.R466C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039253" "0" "50" "12" "49392123" "49392123" "subst" "0" "01804" "DDN_000003" "g.49392123G>T" "" "" "" "DDN(NM_015086.2):c.536C>A (p.(Ala179Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039254" "0" "50" "12" "49392880" "49392880" "subst" "0.000370657" "01804" "DDN_000004" "g.49392880C>T" "" "" "" "DDN(NM_015086.2):c.191G>A (p.(Arg64His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039255" "0" "30" "12" "49415848" "49415848" "subst" "1.21864E-5" "01804" "PRKAG1_000008" "g.49415848C>T" "" "" "" "KMT2D(NM_003482.4):c.16499G>A (p.(Arg5500Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039256" "0" "50" "12" "49415854" "49415854" "subst" "0" "01804" "PRKAG1_000009" "g.49415854G>C" "" "" "" "KMT2D(NM_003482.4):c.16493C>G (p.(Ser5498Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039257" "0" "30" "12" "49416497" "49416497" "subst" "0.000101537" "01804" "PRKAG1_000010" "g.49416497C>T" "" "" "" "KMT2D(NM_003482.4):c.16214G>A (p.(Arg5405His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039258" "0" "90" "12" "49418462" "49418462" "subst" "0" "02327" "KMT2D_001244" "g.49418462A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" ""
"0001039259" "0" "30" "12" "49418498" "49418498" "subst" "0" "01804" "KMT2D_001245" "g.49418498G>A" "" "" "" "KMT2D(NM_003482.4):c.15922-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039260" "0" "30" "12" "49420081" "49420081" "subst" "3.65542E-5" "01804" "KMT2D_001246" "g.49420081T>C" "" "" "" "KMT2D(NM_003482.4):c.15668A>G (p.(Asn5223Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039261" "0" "30" "12" "49420629" "49420629" "subst" "4.47234E-5" "01804" "KMT2D_001247" "g.49420629G>A" "" "" "" "KMT2D(NM_003482.4):c.15120C>T (p.(Asp5040=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039262" "0" "50" "12" "49421624" "49421624" "subst" "0" "01804" "KMT2D_001248" "g.49421624G>C" "" "" "" "KMT2D(NM_003482.4):c.14605C>G (p.(Leu4869Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039263" "0" "30" "12" "49421845" "49421845" "subst" "0" "01804" "KMT2D_001249" "g.49421845T>C" "" "" "" "KMT2D(NM_003482.4):c.14462A>G (p.(Glu4821Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039264" "0" "30" "12" "49425349" "49425349" "subst" "5.43779E-5" "01804" "KMT2D_001250" "g.49425349G>A" "" "" "" "KMT2D(NM_003482.4):c.13139C>T (p.(Pro4380Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039265" "0" "30" "12" "49425672" "49425672" "subst" "1.10996E-5" "01804" "KMT2D_001251" "g.49425672G>T" "" "" "" "KMT2D(NM_003482.4):c.12816C>A (p.(Gly4272=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039266" "0" "50" "12" "49425674" "49425674" "subst" "0" "01804" "KMT2D_001252" "g.49425674C>T" "" "" "" "KMT2D(NM_003482.4):c.12814G>A (p.(Gly4272Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039267" "0" "50" "12" "49425837" "49425839" "dup" "0" "02325" "KMT2D_000740" "g.49425837_49425839dup" "" "" "" "KMT2D(NM_003482.3):c.12662_12664dupAGC (p.(Gln4221dup)), KMT2D(NM_003482.3):c.12662_12664dupAGC (p.Q4221dup), KMT2D(NM_003482.4):c.12662_12664dupAG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039268" "0" "50" "12" "49425846" "49425846" "subst" "0" "01804" "KMT2D_001253" "g.49425846T>G" "" "" "" "KMT2D(NM_003482.4):c.12642A>C (p.(Leu4214Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039269" "0" "30" "12" "49425910" "49425910" "subst" "3.25855E-5" "01804" "KMT2D_001254" "g.49425910G>A" "" "" "" "KMT2D(NM_003482.4):c.12578C>T (p.(Thr4193Met))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039270" "0" "30" "12" "49425964" "49425964" "subst" "0.000400016" "01804" "KMT2D_000930" "g.49425964G>T" "" "" "" "KMT2D(NM_003482.4):c.12524C>A (p.(Pro4175Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039271" "0" "30" "12" "49426694" "49426694" "subst" "0" "02327" "KMT2D_000037" "g.49426694G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039272" "0" "50" "12" "49426784" "49426784" "subst" "6.71682E-6" "01804" "KMT2D_001255" "g.49426784G>C" "" "" "" "KMT2D(NM_003482.4):c.11704C>G (p.(Gln3902Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039273" "0" "10" "12" "49427108" "49427108" "subst" "0.000625616" "01804" "KMT2D_000621" "g.49427108G>A" "" "" "" "KMT2D(NM_003482.3):c.11380C>T (p.P3794S), KMT2D(NM_003482.4):c.11380C>T (p.(Pro3794Ser), p.P3794S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001039274" "0" "50" "12" "49427678" "49427695" "dup" "0" "01804" "KMT2D_000312" "g.49427678_49427695dup" "" "" "" "KMT2D(NM_003482.4):c.10803_10820dup (p.(Gln3607_Gln3612dup)), KMT2D(NM_003482.4):c.10803_10820dupACAACAGCAGCAGCAGCA (p.Q3607_Q3612dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039275" "0" "50" "12" "49431030" "49431030" "subst" "0" "01804" "KMT2D_001256" "g.49431030T>C" "" "" "" "KMT2D(NM_003482.4):c.10109A>G (p.(Gln3370Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039276" "0" "30" "12" "49431106" "49431106" "subst" "0" "01804" "KMT2D_000917" "g.49431106G>A" "" "" "" "KMT2D(NM_003482.3):c.10033C>T (p.P3345S), KMT2D(NM_003482.4):c.10033C>T (p.(Pro3345Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039277" "0" "30" "12" "49431144" "49431144" "subst" "1.24994E-5" "01804" "KMT2D_001257" "g.49431144G>C" "" "" "" "KMT2D(NM_003482.4):c.9995C>G (p.(Thr3332Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039278" "0" "50" "12" "49431302" "49431304" "dup" "0" "01804" "KMT2D_001258" "g.49431302_49431304dup" "" "" "" "KMT2D(NM_003482.4):c.9846_9848dup (p.(Gln3282dup))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039279" "0" "50" "12" "49431762" "49431762" "subst" "2.71776E-5" "01804" "KMT2D_001259" "g.49431762C>A" "" "" "" "KMT2D(NM_003482.4):c.9377G>T (p.(Gly3126Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039280" "0" "50" "12" "49432470" "49432470" "subst" "1.24394E-5" "01804" "KMT2D_001260" "g.49432470G>C" "" "" "" "KMT2D(NM_003482.4):c.8669C>G (p.(Pro2890Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039281" "0" "30" "12" "49432560" "49432560" "subst" "7.89721E-5" "01804" "KMT2D_000844" "g.49432560C>T" "" "" "" "KMT2D(NM_003482.3):c.8579G>A (p.R2860H), KMT2D(NM_003482.4):c.8579G>A (p.(Arg2860His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039282" "0" "50" "12" "49433365" "49433365" "subst" "0" "02325" "KMT2D_001261" "g.49433365C>G" "" "" "" "KMT2D(NM_003482.4):c.8082G>C (p.Q2694H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039283" "0" "50" "12" "49435170" "49435170" "subst" "0" "01804" "KMT2D_001262" "g.49435170C>A" "" "" "" "KMT2D(NM_003482.4):c.6383G>T (p.(Ser2128Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039284" "0" "50" "12" "49435219" "49435219" "subst" "0" "01804" "KMT2D_001263" "g.49435219C>G" "" "" "" "KMT2D(NM_003482.4):c.6334G>C (p.(Ala2112Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039285" "0" "50" "12" "49436377" "49436377" "subst" "0" "01804" "KMT2D_001264" "g.49436377G>C" "" "" "" "KMT2D(NM_003482.4):c.5834C>G (p.(Pro1945Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039286" "0" "30" "12" "49437499" "49437499" "subst" "2.84412E-5" "01804" "KMT2D_001265" "g.49437499G>A" "" "" "" "KMT2D(NM_003482.4):c.5386C>T (p.(Arg1796Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039287" "0" "50" "12" "49437536" "49437536" "subst" "0" "01804" "KMT2D_000922" "g.49437536G>T" "" "" "" "KMT2D(NM_003482.4):c.5349C>A (p.(Asp1783Glu), p.D1783E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039288" "0" "50" "12" "49438046" "49438046" "subst" "0" "01804" "KMT2D_001266" "g.49438046G>A" "" "" "" "KMT2D(NM_003482.4):c.5125C>T (p.(Arg1709Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039289" "0" "30" "12" "49441821" "49441821" "subst" "0.000402665" "01804" "KMT2D_000455" "g.49441821C>A" "" "" "" "KMT2D(NM_003482.4):c.4163G>T (p.(Arg1388Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039290" "0" "30" "12" "49442542" "49442542" "subst" "1.22877E-5" "01804" "KMT2D_001267" "g.49442542A>G" "" "" "" "KMT2D(NM_003482.4):c.4031T>C (p.(Ile1344Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039291" "0" "30" "12" "49442566" "49442567" "del" "0" "01804" "KMT2D_000096" "g.49442566_49442567del" "" "" "" "KMT2D(NM_003482.4):c.4021-11_4021-10del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039292" "0" "30" "12" "49444249" "49444249" "subst" "2.03724E-5" "01804" "KMT2D_001268" "g.49444249T>C" "" "" "" "KMT2D(NM_003482.4):c.3122A>G (p.(Gln1041Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039293" "0" "30" "12" "49445501" "49445501" "subst" "0.000642209" "01804" "KMT2D_000822" "g.49445501G>T" "" "" "" "KMT2D(NM_003482.3):c.1965C>A (p.P655=), KMT2D(NM_003482.4):c.1965C>A (p.(Pro655=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039294" "0" "50" "12" "49445638" "49445638" "subst" "0" "01804" "KMT2D_001269" "g.49445638G>C" "" "" "" "KMT2D(NM_003482.4):c.1828C>G (p.(Pro610Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039295" "0" "30" "12" "49445704" "49445704" "subst" "0" "01804" "KMT2D_000691" "g.49445704A>G" "" "" "" "KMT2D(NM_003482.3):c.1762T>C (p.S588P), KMT2D(NM_003482.4):c.1762T>C (p.(Ser588Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039296" "0" "50" "12" "49446112" "49446112" "subst" "0" "01804" "KMT2D_001270" "g.49446112G>A" "" "" "" "KMT2D(NM_003482.4):c.1354C>T (p.(Pro452Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001039297" "0" "30" "12" "49447305" "49447305" "subst" "5.19256E-5" "01804" "KMT2D_001271" "g.49447305G>A" "" "" "" "KMT2D(NM_003482.4):c.793C>T (p.(Arg265Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039298" "0" "30" "12" "49448498" "49448498" "subst" "3.28461E-5" "01804" "KMT2D_001272" "g.49448498G>A" "" "" "" "KMT2D(NM_003482.4):c.213C>T (p.(Cys71=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039299" "0" "30" "12" "49449335" "49449335" "subst" "0" "01804" "KMT2D_001273" "g.49449335G>A" "" "" "" "KMT2D(NM_003482.4):c.-37-191C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001039300" "0" "50" "12" "49458345" "49458345" "subst" "0" "01804" "RHEBL1_000001" "g.49458345A>G" "" "" "" "KMT2D(NM_003482.4):c.-4987T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001044600" "0" "70" "12" "49418591" "49418591" "subst" "0" "01164" "KMT2D_000136" "g.49418591A>C" "" "" "" "" "ACMG: PVS1, PS1_SUP, PM2_SUP" "De novo" "-" "" "" "" "" "g.49024808A>C" "" "pathogenic (dominant)" "ACMG"
"0001046379" "0" "50" "12" "49421059" "49421059" "subst" "0" "02325" "KMT2D_001274" "g.49421059T>C" "" "" "" "KMT2D(NM_003482.4):c.14690A>G (p.N4897S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046380" "0" "50" "12" "49425707" "49425707" "subst" "0" "02325" "KMT2D_001275" "g.49425707G>C" "" "" "" "KMT2D(NM_003482.4):c.12781C>G (p.P4261A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001046381" "0" "30" "12" "49435324" "49435324" "subst" "0.000468947" "02325" "KMT2D_001276" "g.49435324G>C" "" "" "" "KMT2D(NM_003482.4):c.6235-6C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001047021" "0" "70" "12" "49416547" "49416547" "subst" "0" "03544" "KMT2D_001277" "g.49416547G>C" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.49022764G>C" "{CV:4083512}" "likely pathogenic" "ACMG"
"0001047555" "0" "30" "12" "49434054" "49434054" "subst" "5.02243E-5" "03779" "KMT2D_001278" "g.49434054G>A" "" "" "" "" "" "Unknown" "" "rs369604891" "0" "" "" "" "" "likely benign" ""
"0001048362" "0" "70" "12" "49445968" "49445968" "subst" "0" "03779" "KMT2D_001279" "g.49445968C>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "likely pathogenic" ""
"0001054308" "0" "50" "12" "49413006" "49413006" "subst" "0" "01804" "PRKAG1_000011" "g.49413006A>C" "" "" "" "KMT2D(NM_003482.4):c.*2557T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054309" "0" "50" "12" "49418440" "49418440" "subst" "0" "01804" "KMT2D_001013" "g.49418440G>T" "" "" "" "KMT2D(NM_003482.3):c.15973C>A (p.P5325T), KMT2D(NM_003482.4):c.15973C>A (p.(Pro5325Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054310" "0" "30" "12" "49420825" "49420825" "subst" "1.626E-5" "01804" "KMT2D_001280" "g.49420825C>T" "" "" "" "KMT2D(NM_003482.4):c.14924G>A (p.(Arg4975His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054311" "0" "50" "12" "49421065" "49421065" "subst" "0" "01804" "KMT2D_001281" "g.49421065G>A" "" "" "" "KMT2D(NM_003482.4):c.14684C>T (p.(Thr4895Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054312" "0" "50" "12" "49422921" "49422921" "subst" "0" "01804" "KMT2D_001282" "g.49422921A>G" "" "" "" "KMT2D(NM_003482.4):c.14174T>C (p.(Leu4725Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054313" "0" "30" "12" "49424443" "49424443" "subst" "9.87923E-5" "01804" "KMT2D_001283" "g.49424443C>G" "" "" "" "KMT2D(NM_003482.4):c.13780G>C (p.(Ala4594Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054314" "0" "30" "12" "49424703" "49424703" "subst" "0.00355856" "01804" "KMT2D_000607" "g.49424703G>A" "" "" "" "KMT2D(NM_003482.3):c.13644C>T (p.S4548=), KMT2D(NM_003482.4):c.13644C>T (p.(Ser4548=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054315" "0" "30" "12" "49425056" "49425056" "subst" "0" "01804" "KMT2D_001284" "g.49425056G>A" "" "" "" "KMT2D(NM_003482.4):c.13432C>T (p.(Arg4478Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054316" "0" "50" "12" "49425813" "49425815" "del" "0" "01804" "KMT2D_001285" "g.49425813_49425815del" "" "" "" "KMT2D(NM_003482.4):c.12676_12678del (p.(Leu4226del))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054317" "0" "50" "12" "49425815" "49425815" "subst" "4.08117E-6" "01804" "KMT2D_000875" "g.49425815G>C" "" "" "" "KMT2D(NM_003482.3):c.12673C>G (p.L4225V), KMT2D(NM_003482.4):c.12673C>G (p.(Leu4225Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054318" "0" "50" "12" "49425832" "49425832" "subst" "4.06901E-6" "01804" "KMT2D_000897" "g.49425832T>G" "" "" "" "KMT2D(NM_003482.3):c.12656A>C (p.Q4219P), KMT2D(NM_003482.4):c.12656A>C (p.(Gln4219Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054319" "0" "30" "12" "49425954" "49425954" "subst" "1.22416E-5" "01804" "KMT2D_001286" "g.49425954G>A" "" "" "" "KMT2D(NM_003482.4):c.12534C>T (p.(Val4178=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054320" "0" "50" "12" "49426261" "49426274" "delins" "0" "01804" "KMT2D_001287" "g.49426261_49426274delinsCTTGTCCAACCCCAGCCCCA" "" "" "" "KMT2D(NM_003482.4):c.12214_12227delinsTGGGGCTGGGGTTGGACAAG (p.(Asp4072_Leu4076delinsTrpGlyTrpGlyTrpThrArg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054321" "0" "50" "12" "49426328" "49426328" "subst" "0" "01804" "KMT2D_001288" "g.49426328T>G" "" "" "" "KMT2D(NM_003482.4):c.12160A>C (p.(Thr4054Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054322" "0" "50" "12" "49427213" "49427213" "subst" "0" "01804" "KMT2D_001289" "g.49427213G>C" "" "" "" "KMT2D(NM_003482.4):c.11275C>G (p.(Gln3759Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054323" "0" "50" "12" "49427293" "49427293" "subst" "0" "01804" "KMT2D_001290" "g.49427293T>C" "" "" "" "KMT2D(NM_003482.4):c.11195A>G (p.(Gln3732Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054324" "0" "50" "12" "49430982" "49430982" "subst" "0" "01804" "KMT2D_001291" "g.49430982G>A" "" "" "" "KMT2D(NM_003482.4):c.10157C>T (p.(Pro3386Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054325" "0" "50" "12" "49431033" "49431033" "subst" "4.06696E-6" "01804" "KMT2D_001292" "g.49431033G>T" "" "" "" "KMT2D(NM_003482.4):c.10106C>A (p.(Pro3369His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054326" "0" "30" "12" "49431115" "49431115" "subst" "0.000103146" "01804" "KMT2D_001293" "g.49431115G>A" "" "" "" "KMT2D(NM_003482.4):c.10024C>T (p.(Arg3342Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054327" "0" "50" "12" "49431225" "49431225" "subst" "0" "01804" "KMT2D_001294" "g.49431225C>T" "" "" "" "KMT2D(NM_003482.4):c.9914G>A (p.(Ser3305Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054328" "0" "50" "12" "49431411" "49431411" "subst" "0" "01804" "KMT2D_001295" "g.49431411C>G" "" "" "" "KMT2D(NM_003482.4):c.9728G>C (p.(Ser3243Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054329" "0" "50" "12" "49432753" "49432753" "subst" "0" "01804" "KMT2D_001296" "g.49432753G>C" "" "" "" "KMT2D(NM_003482.4):c.8386C>G (p.(Gln2796Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054330" "0" "30" "12" "49434351" "49434351" "subst" "6.99686E-5" "01804" "KMT2D_001297" "g.49434351C>T" "" "" "" "KMT2D(NM_003482.4):c.7202G>A (p.(Arg2401His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054331" "0" "50" "12" "49434570" "49434570" "subst" "0" "01804" "KMT2D_001298" "g.49434570T>C" "" "" "" "KMT2D(NM_003482.4):c.6983A>G (p.(Lys2328Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054332" "0" "50" "12" "49434708" "49434708" "subst" "2.03588E-5" "01804" "KMT2D_001299" "g.49434708C>T" "" "" "" "KMT2D(NM_003482.4):c.6845G>A (p.(Arg2282Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054333" "0" "50" "12" "49435216" "49435216" "subst" "4.13822E-6" "01804" "KMT2D_001300" "g.49435216G>C" "" "" "" "KMT2D(NM_003482.4):c.6337C>G (p.(Leu2113Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054334" "0" "50" "12" "49435270" "49435270" "subst" "3.69376E-5" "01804" "KMT2D_001301" "g.49435270G>A" "" "" "" "KMT2D(NM_003482.4):c.6283C>T (p.(Arg2095Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054335" "0" "50" "12" "49435470" "49435470" "subst" "0" "01804" "KMT2D_001302" "g.49435470G>A" "" "" "" "KMT2D(NM_003482.4):c.6202C>T (p.(Arg2068Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054336" "0" "50" "12" "49437532" "49437532" "subst" "0" "01804" "KMT2D_000795" "g.49437532T>C" "" "" "" "KMT2D(NM_003482.4):c.5353A>G (p.(Ser1785Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054337" "0" "50" "12" "49437679" "49437679" "subst" "0" "01804" "KMT2D_001303" "g.49437679A>C" "" "" "" "KMT2D(NM_003482.4):c.5291T>G (p.(Leu1764Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054338" "0" "50" "12" "49437728" "49437728" "subst" "0" "01804" "KMT2D_001034" "g.49437728C>T" "" "" "" "KMT2D(NM_003482.4):c.5242G>A (p.(Gly1748Arg), p.G1748R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054339" "0" "30" "12" "49440409" "49440409" "subst" "0.0022598" "01804" "KMT2D_000668" "g.49440409G>A" "" "" "" "KMT2D(NM_003482.4):c.4401C>T (p.(Gly1467=), p.G1467=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054340" "0" "30" "12" "49442425" "49442433" "del" "0" "01804" "KMT2D_001304" "g.49442425_49442433del" "" "" "" "KMT2D(NM_003482.4):c.4131+10_4131+18del" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054341" "0" "50" "12" "49443926" "49443926" "subst" "0" "01804" "KMT2D_001305" "g.49443926T>C" "" "" "" "KMT2D(NM_003482.4):c.3445A>G (p.(Lys1149Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001054342" "0" "30" "12" "49445669" "49445669" "subst" "0.000629549" "01804" "KMT2D_000858" "g.49445669C>T" "" "" "" "KMT2D(NM_003482.3):c.1797G>A (p.L599=), KMT2D(NM_003482.4):c.1797G>A (p.(Leu599=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001054343" "0" "50" "12" "49447028" "49447028" "subst" "0" "01804" "KMT2D_001306" "g.49447028G>C" "" "" "" "KMT2D(NM_003482.4):c.916C>G (p.(Pro306Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001058836" "0" "90" "12" "49432284" "49432284" "del" "0" "00006" "KMT2D_001311" "g.49432284del" "" "{PMID:Retterer 2016:26633542}" "" "8856delC" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49038501del" "" "pathogenic" ""
"0001058837" "0" "90" "12" "49427225" "49427225" "subst" "0" "00006" "KMT2D_001310" "g.49427225G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49033442G>A" "" "pathogenic" ""
"0001058838" "0" "90" "12" "49426450" "49426457" "del" "0" "00006" "KMT2D_001308" "g.49426450_49426457del" "" "{PMID:Retterer 2016:26633542}" "" "12039_12046delAGCCCTGG" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49032667_49032674del" "" "pathogenic" ""
"0001058839" "0" "90" "12" "49449064" "49449064" "subst" "1.62444E-5" "00006" "KMT2D_001312" "g.49449064G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49055281G>A" "" "pathogenic" ""
"0001058840" "0" "90" "12" "49426775" "49426775" "subst" "0" "00006" "KMT2D_001309" "g.49426775G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49032992G>A" "" "pathogenic" ""
"0001058841" "0" "90" "12" "49416417" "49416417" "subst" "0" "00006" "KMT2D_000121" "g.49416417G>A" "" "{PMID:Retterer 2016:26633542}" "" "" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49022634G>A" "" "pathogenic" ""
"0001058842" "0" "90" "12" "49420592" "49420597" "dup" "0" "00006" "KMT2D_000178" "g.49420592_49420597dup" "" "{PMID:Retterer 2016:26633542}" "" "15163_15168dupGACCTG" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49026809_49026814dup" "" "pathogenic" ""
"0001058905" "0" "90" "12" "49425162" "49425162" "dup" "0" "00006" "KMT2D_001307" "g.49425162dup" "" "{PMID:Retterer 2016:26633542}" "" "13326dupA" "variants reported seperately, unknown if mono-allelic or bi-allelic" "Unknown" "" "" "0" "" "" "g.49031379dup" "" "pathogenic" ""
"0001062632" "0" "90" "12" "49427339" "49427339" "subst" "0" "00006" "KMT2D_000307" "g.49427339G>A" "" "{PMID:Yap 2019: 29907798}" "" "" "" "De novo" "" "" "0" "" "" "g.49033556G>A" "" "pathogenic (dominant)" ""
"0001062633" "0" "90" "12" "49447831" "49447832" "dup" "0" "00006" "KMT2D_001316" "g.49447831_49447832dup" "" "{PMID:Yap 2019: 29907798}" "" "" "" "De novo" "" "" "0" "" "" "g.49054048_49054049dup" "" "pathogenic (dominant)" ""
"0001062634" "0" "90" "12" "49434940" "49434940" "delins" "0" "00006" "KMT2D_001314" "g.49434940delinsTT" "" "{PMID:Yap 2019: 29907798}" "" "" "" "De novo" "" "" "0" "" "" "g.49041157delinsTT" "" "pathogenic (dominant)" ""
"0001062635" "0" "90" "12" "49447392" "49447392" "del" "0" "00006" "KMT2D_001315" "g.49447392del" "" "{PMID:Yap 2019: 29907798}" "" "" "" "De novo" "" "" "0" "" "" "g.49053609del" "" "pathogenic (dominant)" ""
"0001062636" "0" "90" "12" "49433005" "49433005" "subst" "0" "00006" "KMT2D_001313" "g.49433005C>T" "" "{PMID:Yap 2019: 29907798}" "" "" "" "De novo" "" "" "0" "" "" "g.49039222C>T" "" "pathogenic (dominant)" ""
## 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 KMT2D
## Count = 1891
"{{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}}"
"0000040033" "00023885" "90" "5212" "0" "5212" "0" "c.5212G>T" "r.(?)" "p.(Glu1738*)" "22"
"0000040034" "00023885" "90" "5674" "0" "5674" "0" "c.5674C>T" "r.(?)" "p.(Gln1892*)" "26"
"0000040035" "00023885" "90" "7936" "0" "7936" "0" "c.7936G>T" "r.(?)" "p.(Glu2646*)" "31"
"0000040036" "00023885" "90" "10750" "0" "10750" "0" "c.10750C>T" "r.(?)" "p.(Gln3584*)" "39"
"0000040037" "00023885" "90" "11704" "0" "11704" "0" "c.11704C>T" "r.(?)" "p.(Gln3902*)" "39"
"0000040038" "00023885" "90" "11869" "0" "11869" "0" "c.11869C>T" "r.(?)" "p.(Gln3957*)" "39"
"0000040039" "00023885" "90" "12844" "0" "12844" "0" "c.12844C>T" "r.(?)" "p.(Arg4282*)" "39"
"0000040040" "00023885" "90" "12955" "0" "12955" "0" "c.12955A>T" "r.(?)" "p.(Arg4319*)" "39"
"0000040041" "00023885" "90" "13507" "0" "13507" "0" "c.13507C>T" "r.(?)" "p.(Gln4503*)" "39"
"0000040042" "00023885" "90" "15022" "0" "15022" "0" "c.15022G>T" "r.(?)" "p.(Glu5008*)" "48"
"0000040043" "00023885" "90" "1503" "0" "1503" "0" "c.1503dup" "r.(?)" "p.(Pro502Serfs*7)" "10"
"0000040044" "00023885" "90" "3161" "0" "3171" "0" "c.3161_3171del" "r.(?)" "p.(Pro1054Hisfs*10)" "11"
"0000040045" "00023885" "90" "3730" "0" "3730" "0" "c.3730del" "r.(?)" "p.(Val1244Serfs*86)" "11"
"0000040046" "00023885" "90" "4021" "0" "4021" "0" "c.4021del" "r.(?)" "p.(Val1341Leufs*35)" "13"
"0000040047" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(?)" "p.(Met1379Valfs*52)" "14"
"0000040048" "00023885" "90" "4454" "0" "4454" "0" "c.4454del" "r.(?)" "p.(Pro1485Leufs*21)" "16"
"0000040049" "00023885" "90" "4896" "0" "4905" "0" "c.4896_4905del" "r.(?)" "p.(Asp1633Alafs*86)" "19"
"0000040050" "00023885" "90" "5857" "0" "5857" "0" "c.5857del" "r.(?)" "p.(Leu1953Trpfs*94)" "27"
"0000040051" "00023885" "90" "5954" "0" "5954" "0" "c.5954del" "r.(?)" "p.(Thr1985Lysfs*62)" "28"
"0000040052" "00023885" "90" "6149" "0" "6150" "0" "c.6149_6150del" "r.(?)" "p.(Arg2050Lysfs*6)" "29"
"0000040053" "00023885" "90" "6583" "0" "6583" "0" "c.6583del" "r.(?)" "p.(Thr2195Profs*69)" "31"
"0000040054" "00023885" "90" "6738" "0" "6738" "0" "c.6738del" "r.(?)" "p.(Lys2246Asnfs*18)" "31"
"0000040055" "00023885" "90" "6794" "0" "6794" "0" "c.6794del" "r.(?)" "p.(Gly2265Glufs*21)" "31"
"0000040056" "00023885" "90" "7481" "0" "7481" "0" "c.7481dup" "r.(?)" "p.(Ala2496Serfs*10)" "31"
"0000040057" "00023885" "90" "8196" "0" "8196" "0" "c.8196del" "r.(?)" "p.(Ser2733Valfs*24)" "32"
"0000040058" "00023885" "90" "8430" "0" "8431" "0" "c.8430_8431insAA" "r.(?)" "p.(Gln2811Asnfs*41)" "34"
"0000040059" "00023885" "90" "9203" "0" "9203" "0" "c.9203del" "r.(?)" "p.(Glu3068Glyfs*3)" "34"
"0000040060" "00023885" "90" "12647" "0" "12647" "0" "c.12647del" "r.(?)" "p.(Pro4216Leufs*62)" "39"
"0000040061" "00023885" "90" "12966" "0" "12966" "0" "c.12966del" "r.(?)" "p.(Gln4322Hisfs*62)" "39"
"0000040062" "00023885" "90" "13277" "0" "13277" "0" "c.13277dup" "r.(?)" "p.(Ala4428Serfs*59)" "39"
"0000040063" "00023885" "90" "13884" "0" "13884" "0" "c.13884dup" "r.(?)" "p.(Thr4629Hisfs*18)" "42"
"0000040064" "00023885" "90" "14592" "0" "14592" "0" "c.14592dup" "r.(?)" "p.(Pro4865Alafs*48)" "47"
"0000040065" "00023885" "90" "15031" "0" "15031" "0" "c.15031del" "r.(?)" "p.(Glu5011Serfs*40)" "48"
"0000040066" "00023885" "90" "15785" "-238" "16168" "0" "c.15785-238_16168delinsTTGTATCTAA" "r.(del)" "p.?" "48i_51"
"0000040067" "00023885" "50" "2532" "0" "2591" "0" "c.2532_2591del" "r.(?)" "p.(Arg845_Pro864del)" "10"
"0000040068" "00023885" "50" "11714" "0" "11716" "0" "c.11714_11716dup" "r.(?)" "p.(Gln3905dup)" "39"
"0000040069" "00023885" "50" "11843" "0" "11860" "0" "c.11843_11860del" "r.(?)" "p.(Leu3948_Gln3953del)" "39"
"0000040070" "00023885" "50" "11856" "0" "11876" "0" "c.11856_11876dup" "r.(?)" "p.(Leu3955_Gln3961dup)" "39"
"0000040071" "00023885" "50" "346" "0" "346" "0" "c.346T>C" "r.(?)" "p.(Ser116Pro)" "3"
"0000040072" "00023885" "10" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Gln170His)" "4"
"0000040073" "00023885" "50" "626" "0" "626" "0" "c.626C>T" "r.(?)" "p.(Thr209Ile)" "5"
"0000040074" "00023885" "50" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Pro1131Leu)" "11"
"0000040075" "00023885" "50" "3524" "0" "3524" "0" "c.3524C>T" "r.(?)" "p.(Thr1175Ile)" "11"
"0000040076" "00023885" "50" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" "11"
"0000040077" "00023885" "50" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Glu1391Lys)" "14"
"0000040078" "00023885" "50" "4283" "0" "4283" "0" "c.4283T>C" "r.(?)" "p.(Ile1428Thr)" "15"
"0000040079" "00023885" "30" "4427" "0" "4427" "0" "c.4427C>G" "r.(?)" "p.(Ser1476Cys)" "16"
"0000040080" "00023885" "30" "5226" "0" "5226" "0" "c.5226G>C" "r.(?)" "p.(Glu1742Asp)" "22"
"0000040081" "00023885" "70" "6638" "0" "6638" "0" "c.6638G>A" "r.(?)" "p.(Gly2213Asp)" "31"
"0000040082" "00023885" "70" "6638" "0" "6638" "0" "c.6638G>A" "r.(?)" "p.(Gly2213Asp)" "31"
"0000040083" "00023885" "30" "6811" "0" "6811" "0" "c.6811C>T" "r.(?)" "p.(Pro2271Ser)" "31"
"0000040084" "00023885" "70" "6970" "0" "6970" "0" "c.6970C>A" "r.(?)" "p.(Pro2324Thr)" "31"
"0000040086" "00023885" "70" "10499" "0" "10499" "0" "c.10499G>T" "r.(?)" "p.(Gly3500Val)" "37"
"0000040087" "00023885" "70" "10966" "0" "10966" "0" "c.10966C>T" "r.(?)" "p.(Arg3656Cys)" "39"
"0000040088" "00023885" "50" "11794" "0" "11794" "0" "c.11794C>G" "r.(?)" "p.(Gln3932Glu)" "39"
"0000040089" "00023885" "50" "12485" "0" "12485" "0" "c.12485G>A" "r.(?)" "p.(Arg4162Gln)" "39"
"0000040090" "00023885" "70" "13256" "0" "13256" "0" "c.13256C>T" "r.(?)" "p.(Pro4419Leu)" "39"
"0000040091" "00023885" "70" "15292" "0" "15292" "0" "c.15292A>C" "r.(?)" "p.(Thr5098Pro)" "48"
"0000040092" "00023885" "70" "15649" "0" "15649" "0" "c.15649T>C" "r.(?)" "p.(Trp5217Arg)" "48"
"0000040093" "00023885" "70" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000040094" "00023885" "70" "16528" "0" "16528" "0" "c.16528T>G" "r.(?)" "p.(Tyr5510Asp)" "54"
"0000040095" "00023885" "90" "177" "-2" "177" "-2" "c.177-2A>C" "r.177_400del" "p.Ser59Argfs*86" "2i"
"0000040096" "00023885" "90" "400" "1" "400" "1" "c.400+1G>A" "r.177_400del" "p.Ser59Argfs*86" "3i"
"0000040097" "00023885" "90" "401" "-3" "401" "-3" "c.401-3A>G" "r.400_401insag" "p.Gly134Glufs*75" "3i"
"0000040098" "00023885" "90" "4693" "1" "4693" "1" "c.4693+1G>A" "r.(4681_4693del)" "p.(Val1561Argfs*11)" "17i"
"0000040099" "00023885" "90" "13999" "5" "13999" "5" "c.13999+5G>A" "r.13840_13999del" "p.Asn4614Ilefs*5" "42i"
"0000040100" "00023885" "90" "14252" "-6" "14252" "-5" "c.14252-6_14252-5insGAAA" "r.14252_14382del" "p.(Val4751Glufs*22)" "44i"
"0000040101" "00023885" "90" "14643" "1" "14643" "1" "c.14643+1G>A" "r.14644_14875del?" "p.(Glu4882Profs*36)?" "47i"
"0000040102" "00023885" "90" "14644" "-3" "14644" "-3" "c.14644-3C>G" "r.14644_14875del" "p.Gln4882Profs*36" "47i"
"0000040103" "00023885" "90" "9961" "0" "9961" "0" "c.9961C>T" "r.9961c>u" "p.Arg3321*" "34"
"0000040104" "00023885" "90" "5652" "0" "5652" "0" "c.5652dup" "r.5652dup" "p.Lys1885Glnfs*18" "26"
"0000040105" "00023885" "90" "7903" "0" "7903" "0" "c.7903C>T" "r.7903c>u" "p.Arg2635*" "31"
"0000040106" "00023885" "90" "2993" "0" "2993" "0" "c.2993dup" "r.(?)" "p.(Met999Tyrfs*69)" "11"
"0000040107" "00023885" "90" "11119" "0" "11119" "0" "c.11119C>T" "r.(?)" "p.(Arg3707*)" "39"
"0000040108" "00023885" "90" "11119" "0" "11119" "0" "c.11119C>T" "r.(?)" "p.(Arg3707*)" "39"
"0000040109" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000040110" "00023885" "30" "14893" "0" "14893" "0" "c.14893G>A" "r.(?)" "p.(Ala4965Thr)" "48"
"0000040111" "00023885" "30" "12488" "0" "12488" "0" "c.12488C>T" "r.(?)" "p.(Pro4163Leu)" "39"
"0000040112" "00023885" "90" "16412" "0" "16412" "0" "c.16412G>T" "r.(?)" "p.(Arg5471Met)" "52"
"0000040113" "00023885" "30" "12070" "0" "12070" "0" "c.12070A>G" "r.(?)" "p.(Lys4024Glu)" "39"
"0000040114" "00023885" "50" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" "34"
"0000063356" "00023885" "10" "14251" "49" "14251" "49" "c.14251+49C>T" "r.(=)" "p.(=)" "44i"
"0000063357" "00023885" "50" "11088" "0" "11088" "0" "c.11088A>G" "r.(=)" "p.(=)" "39"
"0000063358" "00023885" "10" "5467" "19" "5467" "19" "c.5467+19A>C" "r.(=)" "p.(=)" "23i"
"0000063359" "00023885" "10" "7479" "0" "7479" "0" "c.7479G>T" "r.(=)" "p.(=)" "31"
"0000063360" "00023885" "10" "12028" "0" "12028" "0" "c.12028T>C" "r.(?)" "p.(Ser4010Pro)" "39"
"0000063361" "00023885" "10" "15978" "0" "15978" "0" "c.15978T>G" "r.(=)" "p.(=)" "50"
"0000063362" "00023885" "10" "4021" "-11" "4021" "-10" "c.4021-11_4021-10del" "r.(=)" "p.(=)" "12i"
"0000063363" "00023885" "10" "12510" "0" "12510" "0" "c.12510A>G" "r.(=)" "p.(=)" "39"
"0000063364" "00023885" "10" "13671" "60" "13671" "60" "c.13671+60C>T" "r.(=)" "p.(=)" "40i"
"0000063365" "00023885" "50" "14516" "-2" "14516" "-2" "c.14516-2A>G" "r.spl?" "p.(=)" "46i"
"0000063366" "00023885" "10" "10836" "0" "10836" "0" "c.10836G>A" "r.(=)" "p.(=)" "39"
"0000063367" "00023885" "50" "839" "69" "839" "69" "c.839+69G>A" "r.(=)" "p.(=)" "6i"
"0000063368" "00023885" "90" "11099" "0" "11100" "0" "c.11099_11100insA" "r.(?)" "p.(Phe3700Leufs*13)" "39"
"0000063369" "00023885" "50" "10993" "0" "10993" "0" "c.10993C>G" "r.(?)" "p.(Pro3665Ala)" "39"
"0000063370" "00023885" "90" "14671" "0" "14671" "0" "c.14671C>T" "r.(?)" "p.(Gln4891*)" "48"
"0000063371" "00023885" "50" "5533" "29" "5533" "29" "c.5533+29G>A" "r.(=)" "p.(=)" "24i"
"0000063372" "00023885" "10" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Pro813Leu)" "10"
"0000063373" "00023885" "10" "4741" "44" "4741" "44" "c.4741+44G>A" "r.(=)" "p.(=)" "18i"
"0000063374" "00023885" "90" "2232" "0" "2257" "0" "c.2232_2257del" "r.(?)" "p.(Arg746Profs*3)" "10"
"0000063375" "00023885" "50" "859" "0" "859" "0" "c.859A>G" "r.(?)" "p.(Lys287Glu)" "7"
"0000063376" "00023885" "10" "16412" "16" "16412" "16" "c.16412+16del" "r.(=)" "p.(=)" "52i"
"0000063377" "00023885" "50" "16339" "-42" "16339" "-42" "c.16339-42C>T" "r.(=)" "p.(=)" "51i"
"0000063378" "00023885" "10" "2826" "0" "2826" "0" "c.2826C>T" "r.(=)" "p.(=)" "11"
"0000063379" "00023885" "90" "11971" "0" "11971" "0" "c.11971C>T" "r.(?)" "p.(Gln3991*)" "39"
"0000063380" "00023885" "10" "5645" "-63" "5645" "-63" "c.5645-63T>C" "r.(=)" "p.(=)" "25i"
"0000063381" "00023885" "10" "10671" "0" "10671" "0" "c.10671A>G" "r.(=)" "p.(=)" "38"
"0000063382" "00023885" "50" "4964" "-16" "4964" "-16" "c.4964-16C>T" "r.(=)" "p.(=)" "19i"
"0000063383" "00023885" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" "3"
"0000063384" "00023885" "10" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" "34"
"0000063385" "00023885" "90" "955" "-1" "955" "-1" "c.955-1G>A" "r.spl?" "p.?" "7i"
"0000063386" "00023885" "90" "12844" "0" "12844" "0" "c.12844C>T" "r.(?)" "p.(Arg4282*)" "39"
"0000063387" "00023885" "90" "8639" "0" "8648" "0" "c.8639_8648delinsAGGACCAG" "r.(?)" "p.(Leu2880Glnfs*31)" "34"
"0000063388" "00023885" "50" "1660" "0" "1660" "0" "c.1660T>A" "r.(?)" "p.(Leu554Met)" "10"
"0000063389" "00023885" "50" "1668" "0" "1668" "0" "c.1668G>A" "r.(=)" "p.(=)" "10"
"0000063390" "00023885" "10" "5083" "22" "5083" "22" "c.5083+22G>A" "r.(=)" "p.(=)" "20i"
"0000063391" "00023885" "10" "13689" "0" "13689" "0" "c.13689C>T" "r.(=)" "p.(=)" "41"
"0000063392" "00023885" "10" "14251" "49" "14251" "49" "c.14251+49C>T" "r.(=)" "p.(=)" "44i"
"0000076780" "00023885" "70" "2488" "0" "2488" "0" "c.2488G>T" "r.(?)" "p.(Glu830*)" "10"
"0000076781" "00023885" "70" "4549" "0" "4549" "0" "c.4549del" "r.(?)" "p.(Glu1517Argfs*4)" "16"
"0000076782" "00023885" "70" "6349" "0" "6350" "0" "c.6349_6350delinsA" "r.(?)" "p.(Pro2117Thrfs*27)" "31"
"0000079416" "00023885" "70" "15485" "0" "15485" "0" "c.15485T>G" "r.(?)" "p.(Val5162Gly)" ""
"0000079670" "00023885" "70" "1667" "0" "1667" "0" "c.1667C>T" "r.(?)" "p.(Pro556Leu)" ""
"0000086743" "00023885" "90" "15195" "0" "15195" "0" "c.15195G>A" "r.(?)" "p.(Trp5065*)" "48"
"0000086744" "00023885" "90" "15195" "0" "15195" "0" "c.15195G>A" "r.(?)" "p.(Trp5065*)" "48"
"0000086745" "00023885" "90" "6010" "0" "6010" "0" "c.6010C>T" "r.(?)" "p.(Gln2004*)" "28"
"0000086746" "00023885" "90" "12697" "0" "12697" "0" "c.12697C>T" "r.(?)" "p.(Gln4233*)" "39"
"0000086747" "00023885" "90" "8488" "0" "8488" "0" "c.8488C>T" "r.(?)" "p.(Arg2830*)" "34"
"0000086748" "00023885" "90" "11794" "0" "11797" "0" "c.11794_11797del" "r.(?)" "p.(Gln3932Serfs*46)" "39"
"0000086749" "00023885" "90" "15618" "0" "15618" "0" "c.15618T>G" "r.(?)" "p.(Tyr5206*)" "48"
"0000086750" "00023885" "90" "3585" "0" "3585" "0" "c.3585dup" "r.(?)" "p.(Pro1196Thrfs*11)" "11"
"0000086751" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000086752" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086753" "00023885" "90" "15326" "0" "15326" "0" "c.15326G>T" "r.(?)" "p.(Cys5109Phe)" "48"
"0000086754" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000086755" "00023885" "90" "11149" "0" "11149" "0" "c.11149C>T" "r.(?)" "p.(Gln3717*)" "39"
"0000086756" "00023885" "90" "15446" "0" "15447" "0" "c.15446_15447del" "r.(?)" "p.(Phe5149Cysfs*9)" "48"
"0000086757" "00023885" "90" "15217" "0" "15217" "0" "c.15217C>T" "r.(?)" "p.(Gln5073*)" "48"
"0000086758" "00023885" "90" "9961" "0" "9961" "0" "c.9961C>T" "r.(?)" "p.(Arg3321*)" "34"
"0000086759" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000086760" "00023885" "90" "5877" "0" "5893" "0" "c.5877_5893dup" "r.(?)" "p.(Glu1965Glyfs*88)" "28"
"0000086761" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000086762" "00023885" "90" "12703" "0" "12703" "0" "c.12703C>T" "r.(?)" "p.(Gln4235*)" "39"
"0000086763" "00023885" "90" "12241" "0" "12241" "0" "c.12241C>T" "r.(?)" "p.(Gln4081*)" "39"
"0000086764" "00023885" "90" "13390" "0" "13390" "0" "c.13390C>T" "r.(?)" "p.(Gln4464*)" "39"
"0000086765" "00023885" "90" "15641" "0" "15641" "0" "c.15641G>A" "r.(?)" "p.(Arg5214His)" "48"
"0000086766" "00023885" "90" "13579" "0" "13579" "0" "c.13579A>T" "r.(?)" "p.(Lys4527*)" "40"
"0000086767" "00023885" "90" "13579" "0" "13579" "0" "c.13579A>T" "r.(?)" "p.(Lys4527*)" "41"
"0000086768" "00023885" "90" "16501" "0" "16501" "0" "c.16501C>T" "r.(?)" "p.(Arg5501*)" "53"
"0000086769" "00023885" "90" "10738" "0" "10738" "0" "c.10738C>T" "r.(?)" "p.(Gln3580*)" "38"
"0000086770" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454*)" "52"
"0000086771" "00023885" "90" "4958" "0" "4958" "0" "c.4958dup" "r.(?)" "p.(Glu1654*)" "19"
"0000086772" "00023885" "90" "10599" "0" "10630" "0" "c.10599_10630del" "r.(?)" "p.(Val3534Glnfs*11)" "38"
"0000086773" "00023885" "90" "13606" "0" "13606" "0" "c.13606C>T" "r.(?)" "p.(Arg4536*)" "40"
"0000086774" "00023885" "90" "16019" "0" "16019" "0" "c.16019G>T" "r.(?)" "p.(Arg5340Leu)" "50"
"0000086775" "00023885" "90" "4843" "0" "4843" "0" "c.4843C>T" "r.(?)" "p.(Arg1615*)" "19"
"0000086776" "00023885" "90" "16391" "0" "16391" "0" "c.16391C>T" "r.(?)" "p.(Thr5464Met)" "52"
"0000086777" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454*)" "52"
"0000086778" "00023885" "90" "1328" "0" "1328" "0" "c.1328del" "r.(?)" "p.(Pro443Hisfs*487)" "10"
"0000086779" "00023885" "90" "16391" "0" "16391" "0" "c.16391C>T" "r.(?)" "p.(Thr5464Met)" "52"
"0000086780" "00023885" "90" "16391" "0" "16391" "0" "c.16391C>T" "r.(?)" "p.(Thr5464Met)" "52"
"0000086781" "00023885" "90" "1301" "0" "1301" "0" "c.1301del" "r.(?)" "p.(Leu434Glnfs*496)" "10"
"0000086782" "00023885" "90" "2110" "0" "2110" "0" "c.2110del" "r.(?)" "p.(Asp704Thrfs*226)" "10"
"0000086783" "00023885" "90" "2272" "0" "2272" "0" "c.2272del" "r.(?)" "p.(Glu758Serfs*172)" "10"
"0000086784" "00023885" "90" "2558" "0" "2559" "0" "c.2558_2559del" "r.(?)" "p.(Pro853Argfs*3)" "10"
"0000086785" "00023885" "90" "3889" "0" "3889" "0" "c.3889del" "r.(?)" "p.(Arg1297Valfs*33)" "11"
"0000086786" "00023885" "90" "4219" "0" "4222" "0" "c.4219_4222del" "r.(?)" "p.(Tyr1407Valfs*9)" "14"
"0000086787" "00023885" "90" "5320" "-2" "5320" "-2" "c.5320-2A>G" "r.spl" "p.?" "22i"
"0000086788" "00023885" "90" "5585" "0" "5585" "0" "c.5585del" "r.(?)" "p.(Lys1862Serfs*14)" "25"
"0000086789" "00023885" "90" "5912" "0" "5912" "0" "c.5912del" "r.(?)" "p.(Ser1971Thrfs*76)" "28"
"0000086790" "00023885" "90" "7933" "0" "7933" "0" "c.7933C>T" "r.(?)" "p.(Arg2645*)" "31"
"0000086791" "00023885" "90" "8200" "0" "8200" "0" "c.8200C>T" "r.(?)" "p.(Arg2734*)" "32"
"0000086792" "00023885" "90" "8311" "0" "8311" "0" "c.8311C>T" "r.(?)" "p.(Arg2771*)" "33"
"0000086793" "00023885" "90" "8641" "0" "8646" "0" "c.8641_8646delinsGACCTCAATGTCTCTGGACCAGG" "r.(?)" "p.(Arg2881Aspfs*35)" "34"
"0000086794" "00023885" "90" "9223" "0" "9223" "0" "c.9223dup" "r.(?)" "p.(Ser3075Phefs*3)" "34"
"0000086795" "00023885" "90" "9329" "0" "9329" "0" "c.9329del" "r.(?)" "p.(Arg3110Profs*9)" "34"
"0000086796" "00023885" "90" "9770" "0" "9770" "0" "c.9770dup" "r.(?)" "p.(Lys3258Glufs*43)" "34"
"0000086797" "00023885" "90" "10114" "0" "10126" "0" "c.10114_10126del" "r.(?)" "p.(Ser3372Cysfs*16)" "34"
"0000086798" "00023885" "90" "11497" "0" "11497" "0" "c.11497del" "r.(?)" "p.(Arg3833Glyfs*48)" "39"
"0000086799" "00023885" "90" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Gln3903*)" "39"
"0000086800" "00023885" "90" "11722" "0" "11722" "0" "c.11722C>T" "r.(?)" "p.(Gln3908*)" "39"
"0000086801" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982*)" "39"
"0000086802" "00023885" "90" "12164" "0" "12165" "0" "c.12164_12165del" "r.(?)" "p.(Pro4055Argfs*6)" "39"
"0000086803" "00023885" "90" "12969" "0" "12969" "0" "c.12969dup" "r.(?)" "p.(Pro4324Thrfs*10)" "39"
"0000086804" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000086805" "00023885" "90" "13999" "5" "13999" "5" "c.13999+5G>A" "r.spl?" "p.?" "42i"
"0000086806" "00023885" "90" "14516" "-1" "14516" "-1" "c.14516-1G>C" "r.spl" "p.?" "46i"
"0000086807" "00023885" "90" "14644" "-2" "14644" "-2" "c.14644-2A>G" "r.spl" "p.?" "47i"
"0000086808" "00023885" "90" "14845" "0" "14848" "0" "c.14845_14848dup" "r.(?)" "p.(Leu4950Profs*9)" "48"
"0000086809" "00023885" "90" "14878" "0" "14878" "0" "c.14878C>T" "r.(?)" "p.(Arg4960*)" "48"
"0000086810" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000086811" "00023885" "90" "15629" "0" "15629" "0" "c.15629A>G" "r.(?)" "p.(Tyr5210Cys)" "48"
"0000086812" "00023885" "90" "16018" "0" "16018" "0" "c.16018C>T" "r.(?)" "p.(Arg5340*)" "50"
"0000086813" "00023885" "90" "16283" "0" "16283" "0" "c.16283G>A" "r.(?)" "p.(Gly5428Asp)" "51"
"0000086814" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454*)" "52"
"0000086815" "00023885" "90" "3574" "0" "3574" "0" "c.3574G>A" "r.(?)" "p.(Val1192Met)" "11"
"0000086816" "00023885" "90" "9460" "0" "9460" "0" "c.9460del" "r.(?)" "p.(Leu3154*)" "34"
"0000086817" "00023885" "90" "16493" "0" "16493" "0" "c.16493C>T" "r.(?)" "p.(Ser5498Phe)" "53"
"0000086818" "00023885" "90" "1512" "0" "1513" "0" "c.1512_1513del" "r.(?)" "p.(Pro506Thrfs*2)" "10"
"0000086819" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000086820" "00023885" "90" "13531" "-1" "13531" "-1" "c.13531-1G>T" "r.spl" "p.?" "39i"
"0000086821" "00023885" "90" "954" "1" "954" "1" "c.954+1G>T" "r.spl" "p.?" "7i"
"0000086822" "00023885" "90" "8431" "0" "8431" "0" "c.8431C>T" "r.(?)" "p.(Gln2811*)" "34"
"0000086823" "00023885" "90" "4358" "0" "4358" "0" "c.4358A>G" "r.(?)" "p.(His1453Arg)" "15"
"0000086824" "00023885" "90" "7289" "0" "7289" "0" "c.7289dup" "r.(?)" "p.(Ser2431Valfs*3)" "31"
"0000086825" "00023885" "90" "5268" "0" "5268" "0" "c.5268dup" "r.(?)" "p.(Arg1757Alafs*31)" "22"
"0000086826" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086827" "00023885" "90" "1483" "0" "1486" "0" "c.1483_1486del" "r.(?)" "p.(Ser495Argfs*434)" "10"
"0000086828" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000086829" "00023885" "90" "3958" "0" "3958" "0" "c.3958G>T" "r.(?)" "p.(Gly1320*)" "12"
"0000086830" "00023885" "90" "8743" "0" "8743" "0" "c.8743C>T" "r.(?)" "p.(Arg2915*)" "34"
"0000086831" "00023885" "90" "5153" "0" "5153" "0" "c.5153C>T" "r.(?)" "p.(Ala1718Val)" "21"
"0000086832" "00023885" "90" "1940" "0" "1940" "0" "c.1940C>A" "r.(?)" "p.(Pro647Gln)" "10"
"0000086833" "00023885" "90" "1628" "0" "1628" "0" "c.1628C>T" "r.(?)" "p.(Ser543Leu)" "10"
"0000086834" "00023885" "90" "669" "0" "669" "0" "c.669T>G" "r.(?)" "p.(Tyr223*)" "5"
"0000086835" "00023885" "90" "1921" "0" "1921" "0" "c.1921G>T" "r.(?)" "p.(Glu641*)" "10"
"0000086836" "00023885" "90" "4419" "0" "4419" "0" "c.4419G>A" "r.(?)" "p.(Trp1473*)" "16"
"0000086837" "00023885" "90" "4895" "0" "4895" "0" "c.4895del" "r.(?)" "p.(Ser1632*)" "19"
"0000086838" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000086839" "00023885" "90" "7246" "0" "7246" "0" "c.7246C>T" "r.(?)" "p.(Gln2416*)" "31"
"0000086840" "00023885" "90" "7903" "0" "7903" "0" "c.7903C>T" "r.(?)" "p.(Arg2635*)" "31"
"0000086841" "00023885" "90" "10135" "0" "10135" "0" "c.10135C>T" "r.(?)" "p.(Gln3379*)" "34"
"0000086842" "00023885" "90" "10841" "0" "10841" "0" "c.10841C>G" "r.(?)" "p.(Ser3614*)" "39"
"0000086845" "00023885" "90" "11269" "0" "11269" "0" "c.11269C>T" "r.(?)" "p.(Gln3757*)" "39"
"0000086846" "00023885" "90" "11434" "0" "11434" "0" "c.11434C>T" "r.(?)" "p.(Gln3812*)" "39"
"0000086847" "00023885" "90" "12076" "0" "12076" "0" "c.12076C>T" "r.(?)" "p.(Gln4026*)" "39"
"0000086848" "00023885" "90" "12274" "0" "12274" "0" "c.12274C>T" "r.(?)" "p.(Gln4092*)" "39"
"0000086849" "00023885" "90" "13666" "0" "13666" "0" "c.13666A>T" "r.(?)" "p.(Lys4556*)" "40"
"0000086851" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000086852" "00023885" "90" "472" "0" "472" "0" "c.472del" "r.(?)" "p.(Cys158Valfs*50)" "4"
"0000086853" "00023885" "90" "705" "0" "705" "0" "c.705del" "r.(?)" "p.(Glu237Serfs*24)" "6"
"0000086854" "00023885" "90" "1035" "0" "1036" "0" "c.1035_1036del" "r.(?)" "p.(Cys346Serfs*17)" "8"
"0000086855" "00023885" "90" "1345" "0" "1346" "0" "c.1345_1346del" "r.(?)" "p.(Leu449Valfs*5)" "10"
"0000086857" "00023885" "90" "5779" "0" "5779" "0" "c.5779del" "r.(?)" "p.(Gln1927Lysfs*120)" "26"
"0000086858" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086859" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086860" "00023885" "90" "6638" "0" "6641" "0" "c.6638_6641del" "r.(?)" "p.(Gly2213Alafs*50)" "31"
"0000086861" "00023885" "90" "8273" "0" "8273" "0" "c.8273del" "r.(?)" "p.(Gly2758Alafs*29)" "33"
"0000086862" "00023885" "90" "10606" "0" "10606" "0" "c.10606del" "r.(?)" "p.(Arg3536Alafs*122)" "38"
"0000086863" "00023885" "90" "11066" "0" "11078" "0" "c.11066_11078del" "r.(?)" "p.(Ala3689Valfs*56)" "39"
"0000086864" "00023885" "90" "13129" "0" "13129" "0" "c.13129dup" "r.(?)" "p.(Trp4377Leufs*33)" "39"
"0000086865" "00023885" "90" "16469" "0" "16470" "0" "c.16469_16470del" "r.(?)" "p.(Lys5490Argfs*21)" "53"
"0000086866" "00023885" "90" "11819" "0" "11836" "0" "c.11819_11836dup" "r.(?)" "p.(Leu3940_Gln3945dup)" "39"
"0000086867" "00023885" "90" "15163" "0" "15168" "0" "c.15163_15168dup" "r.(?)" "p.(Asp5055_Leu5056dup)" "48"
"0000086868" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000086869" "00023885" "90" "3773" "0" "3773" "0" "c.3773G>A" "r.(?)" "p.(Arg1258Gln)" "11"
"0000086870" "00023885" "50" "4249" "0" "4249" "0" "c.4249A>G" "r.(?)" "p.(Met1417Val)" "15"
"0000086871" "00023885" "90" "4565" "0" "4565" "0" "c.4565A>G" "r.(?)" "p.(Gln1522Arg)" "16"
"0000086872" "00023885" "90" "8521" "0" "8521" "0" "c.8521C>A" "r.(?)" "p.(Pro2841Thr)" "34"
"0000086873" "00023885" "50" "15084" "0" "15084" "0" "c.15084C>G" "r.(?)" "p.(Asp5028Glu)" "48"
"0000086874" "00023885" "90" "15176" "0" "15176" "0" "c.15176A>C" "r.(?)" "p.(His5059Pro)" "48"
"0000086875" "00023885" "90" "16019" "0" "16019" "0" "c.16019G>A" "r.(?)" "p.(Arg5340Gln)" "50"
"0000086879" "00023885" "90" "4412" "0" "4412" "0" "c.4412G>A" "r.(?)" "p.(Cys1471Tyr)" "15"
"0000086880" "00023885" "90" "840" "-1" "840" "-1" "c.840-1G>A" "r.spl" "p.?" "6i"
"0000086881" "00023885" "90" "15785" "-1" "15785" "-1" "c.15785-1G>C" "r.spl" "p.?" "48i"
"0000086882" "00023885" "90" "5865" "0" "5867" "0" "c.5865_5867delinsCCCCC" "r.(?)" "p.(Arg1956Profs*92)" "27"
"0000086883" "00023885" "90" "13285" "0" "13285" "0" "c.13285C>T" "r.(?)" "p.(Gln4429*)" "39"
"0000086884" "00023885" "90" "11047" "0" "11047" "0" "c.11047C>T" "r.(?)" "p.(Gln3683*)" "39"
"0000086885" "00023885" "90" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410*)" "31"
"0000086886" "00023885" "90" "7650" "0" "7650" "0" "c.7650del" "r.(?)" "p.(Val2551Serfs*32)" "31"
"0000086887" "00023885" "90" "702" "0" "702" "0" "c.702del" "r.(?)" "p.(Pro235Glnfs*26)" "6"
"0000086888" "00023885" "90" "16342" "0" "16342" "0" "c.16342C>T" "r.(?)" "p.(Arg5448*)" "52"
"0000086889" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454*)" "52"
"0000086890" "00023885" "90" "5832" "0" "5832" "0" "c.5832C>A" "r.(?)" "p.(Tyr1944*)" "27"
"0000086891" "00023885" "90" "9831" "0" "9833" "0" "c.9831_9833dup" "r.(?)" "p.(Gln3282dup)" "34"
"0000086892" "00023885" "90" "15073" "0" "15080" "0" "c.15073_15080dup" "r.(?)" "p.(Asp5028Tyrfs*26)" "48"
"0000086893" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000086894" "00023885" "90" "15641" "0" "15641" "0" "c.15641G>A" "r.(?)" "p.(Arg5214His)" "48"
"0000086895" "00023885" "90" "14251" "1" "14251" "1" "c.14251+1G>A" "r.spl" "p.?" "44i"
"0000086896" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000086897" "00023885" "90" "13895" "0" "13895" "0" "c.13895del" "r.(?)" "p.(Pro4632Hisfs*8)" "42"
"0000086898" "00023885" "90" "16412" "0" "16412" "0" "c.16412G>C" "r.(?)" "p.(Arg5471Thr)" "52"
"0000086899" "00023885" "90" "6334" "0" "6334" "0" "c.6334del" "r.(?)" "p.(Ala2112Hisfs*32)" "31"
"0000086900" "00023885" "90" "11821" "0" "11821" "0" "c.11821C>T" "r.(?)" "p.(Gln3941*)" "39"
"0000086901" "00023885" "90" "8727" "0" "8730" "0" "c.8727_8730del" "r.(?)" "p.(Ser2910Argfs*32)" "34"
"0000086902" "00023885" "90" "8721" "0" "8721" "0" "c.8721C>G" "r.(?)" "p.(Tyr2907*)" "34"
"0000086903" "00023885" "90" "12688" "0" "12688" "0" "c.12688C>T" "r.(?)" "p.(Gln4230*)" "39"
"0000086904" "00023885" "90" "14946" "0" "14946" "0" "c.14946G>A" "r.(?)" "p.(Trp4982*)" "48"
"0000086905" "00023885" "90" "16437" "0" "16437" "0" "c.16437del" "r.(?)" "p.(Asn5480Thrfs*7)" "53"
"0000086906" "00023885" "90" "11764" "0" "11764" "0" "c.11764C>T" "r.(?)" "p.(Gln3922*)" "39"
"0000086907" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000086908" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "48"
"0000086909" "00023885" "90" "8488" "0" "8488" "0" "c.8488C>T" "r.(?)" "p.(Arg2830*)" "34"
"0000086910" "00023885" "90" "9581" "0" "9581" "0" "c.9581del" "r.(?)" "p.(His3194Profs*3)" "34"
"0000086911" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000086912" "00023885" "90" "4288" "0" "4288" "0" "c.4288T>C" "r.(?)" "p.(Cys1430Arg)" "15"
"0000086913" "00023885" "90" "10395" "0" "10395" "0" "c.10395del" "r.(?)" "p.(Pro3466Leufs*36)" "36"
"0000086914" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000086915" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "48"
"0000086916" "00023885" "90" "4163" "0" "4163" "0" "c.4163G>T" "r.(?)" "p.(Arg1388Leu)" "14"
"0000086917" "00023885" "90" "13201" "0" "13201" "0" "c.13201C>T" "r.(?)" "p.(Gln4401*)" "39"
"0000086918" "00023885" "90" "11149" "0" "11149" "0" "c.11149C>T" "r.(?)" "p.(Gln3717*)" "39"
"0000086919" "00023885" "90" "15339" "0" "15339" "0" "c.15339C>A" "r.(?)" "p.(Tyr5113*)" "48"
"0000086920" "00023885" "90" "16438" "0" "16441" "0" "c.16438_16441del" "r.(?)" "p.(Asn5480Valfs*6)" "53"
"0000086921" "00023885" "90" "8665" "0" "8665" "0" "c.8665G>T" "r.(?)" "p.(Gly2889*)" "34"
"0000086922" "00023885" "90" "6594" "0" "6594" "0" "c.6594del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086923" "00023885" "90" "9961" "0" "9961" "0" "c.9961C>T" "r.(?)" "p.(Arg3321*)" "34"
"0000086924" "00023885" "90" "8859" "0" "8861" "0" "c.8859_8861delinsCA" "r.(?)" "p.(Lys2953Asnfs*51)" "34"
"0000086925" "00023885" "90" "8952" "0" "8952" "0" "c.8952del" "r.(?)" "p.(Lys2985Serfs*19)" "34"
"0000086926" "00023885" "90" "697" "0" "697" "0" "c.697G>T" "r.(?)" "p.(Glu233*)" "6"
"0000086927" "00023885" "90" "1448" "0" "1448" "0" "c.1448dup" "r.(?)" "p.(Leu483Phefs*17)" "10"
"0000086928" "00023885" "90" "1634" "0" "1634" "0" "c.1634del" "r.(?)" "p.(Leu545Argfs*385)" "10"
"0000086929" "00023885" "90" "3354" "0" "3354" "0" "c.3354del" "r.(?)" "p.(Glu1120Lysfs*44)" "11"
"0000086930" "00023885" "90" "4171" "0" "4171" "0" "c.4171G>T" "r.(?)" "p.(Glu1391*)" "14"
"0000086931" "00023885" "90" "5058" "0" "5058" "0" "c.5058dup" "r.(?)" "p.(Arg1687Thrfs*4)" "21"
"0000086932" "00023885" "90" "5124" "0" "5125" "0" "c.5124_5125del" "r.(?)" "p.(Arg1709Hisfs*25)" "21"
"0000086933" "00023885" "90" "5527" "0" "5527" "0" "c.5527dup" "r.(?)" "p.(Thr1843Asnfs*5)" "24"
"0000086934" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.(Asp1876Glyfs*38)" "25"
"0000086935" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086936" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000086937" "00023885" "90" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410*)" "31"
"0000086938" "00023885" "90" "7822" "0" "7822" "0" "c.7822del" "r.(?)" "p.(Ser2608Profs*83)" "31"
"0000086939" "00023885" "90" "8059" "0" "8059" "0" "c.8059C>T" "r.(?)" "p.(Arg2687*)" "32"
"0000086940" "00023885" "90" "8307" "0" "8308" "0" "c.8307_8308del" "r.(?)" "p.(Asp2769Glufs*75)" "33"
"0000086941" "00023885" "90" "8311" "0" "8311" "0" "c.8311C>T" "r.(?)" "p.(Arg2771*)" "33"
"0000086942" "00023885" "90" "9494" "0" "9494" "0" "c.9494del" "r.(?)" "p.(Asp3165Valfs*32)" "34"
"0000086943" "00023885" "90" "9805" "0" "9805" "0" "c.9805C>T" "r.(?)" "p.(Gln3269*)" "34"
"0000086944" "00023885" "90" "9961" "0" "9961" "0" "c.9961C>T" "r.(?)" "p.(Arg3321*)" "34"
"0000086945" "00023885" "90" "11102" "0" "11102" "0" "c.11102del" "r.(?)" "p.(Pro3701Leufs*48)" "39"
"0000086946" "00023885" "90" "11515" "0" "11515" "0" "c.11515dup" "r.(?)" "p.(Gln3839Profs*173)" "39"
"0000086947" "00023885" "90" "11527" "0" "11527" "0" "c.11527C>T" "r.(?)" "p.(Gln3843*)" "39"
"0000086948" "00023885" "90" "11674" "0" "11674" "0" "c.11674C>T" "r.(?)" "p.(Gln3892*)" "39"
"0000086949" "00023885" "90" "11887" "0" "11887" "0" "c.11887C>T" "r.(?)" "p.(Gln3963*)" "39"
"0000086950" "00023885" "90" "12179" "0" "12182" "0" "c.12179_12182del" "r.(?)" "p.(Thr4060Asnfs*5)" "39"
"0000086951" "00023885" "90" "12241" "0" "12241" "0" "c.12241C>T" "r.(?)" "p.(Gln4081*)" "39"
"0000086952" "00023885" "90" "12441" "0" "12441" "0" "c.12441del" "r.(?)" "p.(Met4148*)" "39"
"0000086953" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000086954" "00023885" "90" "12753" "0" "12754" "0" "c.12753_12754del" "r.(?)" "p.(Leu4253Profs*80)" "39"
"0000086955" "00023885" "90" "13102" "0" "13102" "0" "c.13102dup" "r.(?)" "p.(Thr4368Asnfs*4)" "39"
"0000086956" "00023885" "90" "13390" "0" "13390" "0" "c.13390C>T" "r.(?)" "p.(Gln4464*)" "39"
"0000086957" "00023885" "90" "13895" "0" "13895" "0" "c.13895del" "r.(?)" "p.(Pro4632Hisfs*8)" "42"
"0000086958" "00023885" "90" "13906" "0" "13906" "0" "c.13906C>T" "r.(?)" "p.(Gln4636*)" "42"
"0000086959" "00023885" "90" "14760" "0" "14761" "0" "c.14760_14761insA" "r.(?)" "p.(Leu4921Ilefs*11)" "48"
"0000086960" "00023885" "90" "14878" "0" "14878" "0" "c.14878C>T" "r.(?)" "p.(Arg4960*)" "48"
"0000086961" "00023885" "90" "14878" "0" "14878" "0" "c.14878C>T" "r.(?)" "p.(Arg4960*)" "48"
"0000086962" "00023885" "90" "15061" "0" "15061" "0" "c.15061C>T" "r.(?)" "p.(Arg5021*)" "48"
"0000086963" "00023885" "90" "15256" "0" "15256" "0" "c.15256C>T" "r.(?)" "p.(Arg5086*)" "48"
"0000086964" "00023885" "90" "15351" "0" "15351" "0" "c.15351T>A" "r.(?)" "p.(Cys5117*)" "48"
"0000086965" "00023885" "90" "16101" "0" "16101" "0" "c.16101del" "r.(?)" "p.(Phe5368Serfs*50)" "51"
"0000086966" "00023885" "90" "16156" "0" "16156" "0" "c.16156dup" "r.(?)" "p.(Ser5386Phefs*73)" "51"
"0000086967" "00023885" "90" "16204" "0" "16204" "0" "c.16204dup" "r.(?)" "p.(Ala5402Glyfs*57)" "51"
"0000086968" "00023885" "90" "16371" "0" "16374" "0" "c.16371_16374del" "r.(?)" "p.(Glu5458Metfs*2)" "52"
"0000086969" "00023885" "90" "5783" "-1" "5784" "0" "c.5783-1_5784delinsA" "r.spl" "p.?" "26i_27"
"0000086970" "00023885" "90" "13999" "1" "13999" "1" "c.13999+1G>C" "r.spl" "p.?" "42i"
"0000086971" "00023885" "90" "15784" "1" "15784" "1" "c.15784+1G>A" "r.spl" "p.?" "48i"
"0000086972" "00023885" "90" "15919" "0" "15921" "10" "c.15919_15921+10del" "r.spl" "p.?" "49_49i"
"0000086973" "00023885" "90" "15921" "2" "15921" "2" "c.15921+2T>G" "r.spl" "p.?" "49i"
"0000086974" "00023885" "90" "16339" "-2" "16339" "-2" "c.16339-2A>G" "r.spl" "p.?" "51i"
"0000086975" "00023885" "90" "16412" "1" "16412" "1" "c.16412+1G>C" "r.spl" "p.?" "52i"
"0000086976" "00023885" "90" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ser337Leu)" "8"
"0000086977" "00023885" "90" "13058" "0" "13058" "0" "c.13058C>T" "r.(?)" "p.(Pro4353Leu)" "39"
"0000086978" "00023885" "90" "15140" "0" "15140" "0" "c.15140C>T" "r.(?)" "p.(Ala5047Val)" "48"
"0000086979" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000086980" "00023885" "90" "16442" "0" "16442" "0" "c.16442G>A" "r.(?)" "p.(Cys5481Tyr)" "53"
"0000086981" "00023885" "90" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Glu338*)" "8"
"0000086982" "00023885" "90" "6130" "0" "6130" "0" "c.6130C>T" "r.(?)" "p.(Gln2044*)" "29"
"0000086983" "00023885" "90" "6991" "0" "6991" "0" "c.6991del" "r.(?)" "p.(Leu2331*)" "31"
"0000086984" "00023885" "90" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410*)" "31"
"0000086985" "00023885" "90" "8032" "0" "8032" "0" "c.8032G>T" "r.(?)" "p.(Glu2678*)" "31"
"0000086986" "00023885" "90" "11290" "0" "11290" "0" "c.11290C>T" "r.(?)" "p.(Gln3764*)" "39"
"0000086987" "00023885" "90" "11743" "0" "11743" "0" "c.11743C>T" "r.(?)" "p.(Gln3915*)" "39"
"0000086988" "00023885" "90" "12511" "0" "12511" "0" "c.12511C>T" "r.(?)" "p.(Gln4171*)" "39"
"0000086989" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000086990" "00023885" "90" "12808" "0" "12808" "0" "c.12808C>T" "r.(?)" "p.(Gln4270*)" "39"
"0000086991" "00023885" "90" "13201" "0" "13201" "0" "c.13201C>T" "r.(?)" "p.(Gln4401*)" "39"
"0000086992" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000086993" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000086994" "00023885" "90" "588" "0" "588" "0" "c.588del" "r.(?)" "p.(Cys197Alafs*11)" "5"
"0000086995" "00023885" "90" "589" "0" "589" "0" "c.589del" "r.(?)" "p.(Cys197Alafs*11)" "5"
"0000086996" "00023885" "90" "859" "0" "860" "0" "c.859_860insT" "r.(?)" "p.(Lys287Ilefs*6)" "7"
"0000086997" "00023885" "90" "4162" "0" "4163" "0" "c.4162_4163insCG" "r.(?)" "p.(Arg1388Profs*30)" "14"
"0000086998" "00023885" "90" "4168" "0" "4168" "0" "c.4168dup" "r.(?)" "p.(Ala1390Glyfs*42)" "14"
"0000086999" "00023885" "90" "5135" "0" "5136" "0" "c.5135_5136del" "r.(?)" "p.(Lys1712Argfs*22)" "21"
"0000087000" "00023885" "90" "5652" "0" "5652" "0" "c.5652dup" "r.(?)" "p.(Lys1885Glnfs*18)" "26"
"0000087001" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000087002" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000087003" "00023885" "90" "6729" "0" "6729" "0" "c.6729dup" "r.(?)" "p.(Phe2244Ilefs*11)" "31"
"0000087004" "00023885" "90" "7297" "0" "7297" "0" "c.7297del" "r.(?)" "p.(Glu2433Lysfs*52)" "31"
"0000087005" "00023885" "90" "7307" "0" "7308" "0" "c.7307_7308insT" "r.(?)" "p.(Ser2438Ilefs*11)" "31"
"0000087006" "00023885" "90" "7479" "0" "7479" "0" "c.7479del" "r.(?)" "p.(Phe2494Serfs*49)" "31"
"0000087007" "00023885" "90" "8740" "0" "8740" "0" "c.8740dup" "r.(?)" "p.(His2914Profs*6)" "34"
"0000087008" "00023885" "90" "10772" "0" "10772" "0" "c.10772dup" "r.(?)" "p.(Met3592Hisfs*83)" "39"
"0000087009" "00023885" "90" "12414" "0" "12414" "0" "c.12414dup" "r.(?)" "p.(Val4139Cysfs*29)" "39"
"0000087010" "00023885" "90" "15374" "0" "15374" "0" "c.15374dup" "r.(?)" "p.(Phe5126Leufs*12)" "48"
"0000087011" "00023885" "90" "15947" "0" "15947" "0" "c.15947dup" "r.(?)" "p.(Asn5316Lysfs*29)" "50"
"0000087012" "00023885" "90" "1940" "0" "1940" "0" "c.1940C>A" "r.(?)" "p.(Pro647Gln)" "14"
"0000087013" "00023885" "90" "4138" "0" "4138" "0" "c.4138T>C" "r.(?)" "p.(Cys1380Arg)" "15"
"0000087014" "00023885" "90" "4411" "0" "4411" "0" "c.4411T>C" "r.(?)" "p.(Cys1471Arg)" "48"
"0000087015" "00023885" "50" "15088" "0" "15088" "0" "c.15088C>T" "r.(?)" "p.(Arg5030Cys)" "48"
"0000087016" "00023885" "90" "15088" "0" "15088" "0" "c.15088C>T" "r.(?)" "p.(Arg5030Cys)" "48"
"0000087017" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087018" "00023885" "50" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" "48"
"0000087019" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "51"
"0000087020" "00023885" "90" "16294" "0" "16294" "0" "c.16294C>T" "r.(?)" "p.(Arg5432Trp)" "53"
"0000087021" "00023885" "90" "16493" "0" "16493" "0" "c.16493C>T" "r.(?)" "p.(Ser5498Phe)" "14"
"0000087022" "00023885" "90" "509" "0" "509" "0" "c.509A>T" "r.(?)" "p.(Gln170Leu)" "4"
"0000087023" "00023885" "90" "510" "0" "510" "0" "c.510G>C" "r.(?)" "p.(Gln170His)" "4"
"0000087024" "00023885" "90" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(=)" "4"
"0000087025" "00023885" "90" "5867" "1" "5867" "1" "c.5867+1del" "r.spl" "p.?" "27i"
"0000087072" "00023885" "90" "7936" "0" "7936" "0" "c.7936G>T" "r.(?)" "p.(Glu2646*)" "31"
"0000087094" "00023885" "90" "9831" "0" "9848" "0" "c.9831_9848dup" "r.(?)" "p.(Gln3277_Gln3282dup)" "34"
"0000087095" "00023885" "90" "12688" "0" "12688" "0" "c.12688C>T" "r.(?)" "p.(Gln4230*)" "39"
"0000087096" "00023885" "90" "2433" "0" "2434" "0" "c.2433_2434insCA" "r.(?)" "p.(Glu812Glnfs*119)" "10"
"0000087097" "00023885" "90" "11806" "0" "11807" "0" "c.11806_11807dup" "r.(?)" "p.(Gln3936Hisfs*44)" "39"
"0000087098" "00023885" "90" "15119" "0" "15119" "0" "c.15119A>G" "r.(?)" "p.(Asp5040Gly)" "48"
"0000087099" "00023885" "90" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Arg1903*)" "26"
"0000087100" "00023885" "90" "12151" "0" "12151" "0" "c.12151del" "r.(?)" "p.(Ile4051*)" "39"
"0000087101" "00023885" "90" "1300" "0" "1300" "0" "c.1300del" "r.(?)" "p.(Leu434*)" "10"
"0000087102" "00023885" "90" "3326" "0" "3336" "0" "c.3326_3336dup" "r.(?)" "p.(Asp1113Profs*10)" "11"
"0000087103" "00023885" "90" "4127" "0" "4127" "0" "c.4127T>G" "r.(?)" "p.(Met1376Arg)" "13"
"0000087104" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000087105" "00023885" "90" "2608" "0" "2608" "0" "c.2608G>T" "r.(?)" "p.(Glu870*)" "10"
"0000087106" "00023885" "90" "11917" "0" "11917" "0" "c.11917C>T" "r.(?)" "p.(Gln3973*)" "39"
"0000087107" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087108" "00023885" "90" "14861" "0" "14861" "0" "c.14861C>A" "r.(?)" "p.(Ser4954*)" "48"
"0000087109" "00023885" "90" "4419" "-1" "4419" "-1" "c.4419-1G>T" "r.spl" "p.?" "15i"
"0000087110" "00023885" "90" "4633" "0" "4633" "0" "c.4633C>T" "r.(?)" "p.(Gln1545*)" "17"
"0000087111" "00023885" "90" "8059" "0" "8059" "0" "c.8059C>T" "r.(?)" "p.(Arg2687*)" "32"
"0000087112" "00023885" "90" "11962" "0" "11962" "0" "c.11962C>T" "r.(?)" "p.(Gln3988*)" "39"
"0000087113" "00023885" "90" "4736" "0" "4737" "0" "c.4736_4737del" "r.(?)" "p.(Glu1579Alafs*23)" "18"
"0000087114" "00023885" "90" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" "48"
"0000087115" "00023885" "90" "15163" "0" "15168" "0" "c.15163_15168dup" "r.(?)" "p.(Asp5055_Leu5056dup)" "48"
"0000087116" "00023885" "90" "1328" "0" "1328" "0" "c.1328del" "r.(?)" "p.(Pro443Hisfs*487)" "10"
"0000087117" "00023885" "90" "16052" "0" "16052" "0" "c.16052G>A" "r.(?)" "p.(Arg5351Gln)" "50"
"0000087118" "00023885" "90" "510" "1" "510" "1" "c.510+1G>A" "r.spl" "p.?" "4i"
"0000087119" "00023885" "90" "15565" "0" "15565" "0" "c.15565G>A" "r.(?)" "p.(Gly5189Arg)" "48"
"0000087120" "00023885" "90" "6297" "0" "6298" "0" "c.6297_6298del" "r.(?)" "p.(Pro2100Glyfs*54)" "31"
"0000087121" "00023885" "90" "4693" "1" "4693" "1" "c.4693+1G>T" "r.spl" "p.?" "17i"
"0000087122" "00023885" "90" "10090" "0" "10090" "0" "c.10090C>T" "r.(?)" "p.(Gln3364*)" "34"
"0000087123" "00023885" "90" "8401" "0" "8401" "0" "c.8401C>T" "r.(?)" "p.(Arg2801*)" "34"
"0000087124" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000087125" "00023885" "90" "4333" "0" "4333" "0" "c.4333T>G" "r.(?)" "p.(Cys1445Gly)" "15"
"0000087126" "00023885" "90" "15256" "0" "15256" "0" "c.15256C>T" "r.(?)" "p.(Arg5086*)" "48"
"0000087127" "00023885" "90" "11761" "0" "11761" "0" "c.11761C>T" "r.(?)" "p.(Gln3921*)" "39"
"0000087128" "00023885" "90" "5269" "0" "5269" "0" "c.5269C>T" "r.(?)" "p.(Arg1757*)" "22"
"0000087129" "00023885" "90" "15163" "0" "15168" "0" "c.15163_15168dup" "r.(?)" "p.(Asp5055_Leu5056dup)" "48"
"0000087130" "00023885" "90" "4577" "0" "4577" "0" "c.4577G>T" "r.(?)" "p.(Cys1526Phe)" "16"
"0000087131" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982*)" "39"
"0000087132" "00023885" "90" "13903" "0" "13903" "0" "c.13903C>T" "r.(?)" "p.(Gln4635*)" "42"
"0000087133" "00023885" "90" "12220" "0" "12220" "0" "c.12220C>T" "r.(?)" "p.(Gln4074*)" "39"
"0000087134" "00023885" "90" "15061" "0" "15061" "0" "c.15061C>T" "r.(?)" "p.(Arg5021*)" "48"
"0000087135" "00023885" "90" "12274" "0" "12274" "0" "c.12274C>T" "r.(?)" "p.(Gln4092*)" "39"
"0000087136" "00023885" "90" "4490" "0" "4491" "0" "c.4490_4491del" "r.(?)" "p.(His1497Leufs*30)" "16"
"0000087137" "00023885" "90" "16338" "1" "16338" "1" "c.16338+1G>T" "r.spl" "p.?" "51i"
"0000087138" "00023885" "90" "15088" "0" "15088" "0" "c.15088C>T" "r.(?)" "p.(Arg5030Cys)" "48"
"0000087139" "00023885" "90" "3511" "0" "3511" "0" "c.3511G>T" "r.(?)" "p.(Glu1171*)" "11"
"0000087140" "00023885" "90" "11722" "0" "11722" "0" "c.11722C>T" "r.(?)" "p.(Gln3908*)" "39"
"0000087141" "00023885" "90" "3281" "0" "3282" "0" "c.3281_3282del" "r.(?)" "p.(Leu1094Profs*20)" "11"
"0000087142" "00023885" "90" "16052" "1" "16052" "1" "c.16052+1G>C" "r.spl" "p.?" "50i"
"0000087143" "00023885" "90" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000087144" "00023885" "90" "12307" "0" "12307" "0" "c.12307C>T" "r.(?)" "p.(Gln4103*)" "39"
"0000087145" "00023885" "90" "3754" "0" "3754" "0" "c.3754C>T" "r.(?)" "p.(Arg1252*)" "11"
"0000087146" "00023885" "90" "16294" "0" "16294" "0" "c.16294C>T" "r.(?)" "p.(Arg5432Trp)" "51"
"0000087147" "00023885" "90" "5993" "0" "5993" "0" "c.5993A>G" "r.(?)" "p.(Tyr1998Cys)" "28"
"0000087148" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000087149" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000087150" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000087151" "00023885" "90" "8743" "0" "8743" "0" "c.8743C>T" "r.(?)" "p.(Arg2915*)" "34"
"0000087152" "00023885" "90" "5269" "0" "5269" "0" "c.5269C>T" "r.(?)" "p.(Arg1757*)" "22"
"0000087153" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000087154" "00023885" "90" "7649" "0" "7650" "0" "c.7649_7650del" "r.(?)" "p.(Pro2550Argfs*104)" "31"
"0000087155" "00023885" "90" "16135" "0" "16135" "0" "c.16135C>T" "r.(?)" "p.(Gln5379*)" "51"
"0000087156" "00023885" "90" "15326" "0" "15326" "0" "c.15326G>T" "r.(?)" "p.(Cys5109Phe)" "48"
"0000087157" "00023885" "90" "16498" "0" "16498" "0" "c.16498C>T" "r.(?)" "p.(Arg5500Trp)" "53"
"0000087158" "00023885" "90" "4271" "0" "4271" "0" "c.4271G>T" "r.(?)" "p.(Cys1424Phe)" "15"
"0000087159" "00023885" "90" "8107" "0" "8107" "0" "c.8107G>T" "r.(?)" "p.(Glu2703*)" "32"
"0000087160" "00023885" "90" "14404" "0" "14404" "0" "c.14404del" "r.(?)" "p.(Ala4802Glnfs*6)" "46"
"0000087161" "00023885" "90" "13259" "0" "13259" "0" "c.13259G>A" "r.(?)" "p.(Arg4420Gln)" "39"
"0000087162" "00023885" "90" "9164" "0" "9164" "0" "c.9164del" "r.(?)" "p.(Pro3055Leufs*16)" "34"
"0000087163" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000087164" "00023885" "90" "5775" "0" "5775" "0" "c.5775dup" "r.(?)" "p.(Leu1926Serfs*31)" "26"
"0000087165" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(?)" "p.(Met1379Valfs*52)" "14"
"0000087166" "00023885" "90" "11515" "0" "11515" "0" "c.11515C>T" "r.(?)" "p.(Gln3839*)" "39"
"0000087167" "00023885" "90" "11833" "0" "11833" "0" "c.11833C>T" "r.(?)" "p.(Gln3945*)" "39"
"0000087168" "00023885" "90" "721" "0" "721" "0" "c.721del" "r.(?)" "p.(Leu241Cysfs*20)" "6"
"0000087169" "00023885" "90" "1345" "0" "1346" "0" "c.1345_1346del" "r.(?)" "p.(Leu449Valfs*5)" "10"
"0000087170" "00023885" "90" "3161" "0" "3171" "0" "c.3161_3171del" "r.(?)" "p.(Pro1054Hisfs*10)" "11"
"0000087171" "00023885" "90" "3318" "0" "3318" "0" "c.3318dup" "r.(?)" "p.(Ser1107Glnfs*8)" "11"
"0000087172" "00023885" "90" "3532" "0" "3532" "0" "c.3532C>T" "r.(?)" "p.(Gln1178*)" "11"
"0000087173" "00023885" "90" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Arg1903*)" "26"
"0000087174" "00023885" "90" "8160" "0" "8160" "0" "c.8160G>A" "r.(?)" "p.(Trp2720*)" "32"
"0000087175" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000087176" "00023885" "90" "15275" "0" "15275" "0" "c.15275G>A" "r.(?)" "p.(Cys5092Tyr)" "47"
"0000087177" "00023885" "90" "15535" "0" "15535" "0" "c.15535C>T" "r.(?)" "p.(Arg5179Cys)" "48"
"0000087178" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000087179" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000087180" "00023885" "90" "15522" "0" "15525" "0" "c.15522_15525dup" "r.(?)" "p.(His5176Alafs*24)" "48"
"0000087181" "00023885" "90" "11456" "0" "11456" "0" "c.11456del" "r.(?)" "p.(Gly3819Alafs*11)" "39"
"0000087182" "00023885" "90" "4160" "0" "4160" "0" "c.4160G>A" "r.(?)" "p.(Gly1387Asp)" "14"
"0000087183" "00023885" "90" "4292" "0" "4300" "0" "c.4292_4300del" "r.(?)" "p.(Glu1431_Cys1433del)" "15"
"0000087184" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000087185" "00023885" "90" "15548" "0" "15548" "0" "c.15548T>C" "r.(?)" "p.(Leu5183Pro)" "48"
"0000087186" "00023885" "90" "12823" "0" "12823" "0" "c.12823C>T" "r.(?)" "p.(Gln4275*)" "39"
"0000087187" "00023885" "90" "2877" "0" "2877" "0" "c.2877C>A" "r.(?)" "p.(Tyr959*)" "11"
"0000087188" "00023885" "90" "15185" "0" "15185" "0" "c.15185G>A" "r.(?)" "p.(Cys5062Tyr)" "48"
"0000087189" "00023885" "90" "13159" "0" "13159" "0" "c.13159C>T" "r.(?)" "p.(Gln4387*)" "39"
"0000087190" "00023885" "90" "15452" "0" "15452" "0" "c.15452del" "r.(?)" "p.(Val5151Alafs*12)" "48"
"0000087191" "00023885" "90" "12199" "0" "12199" "0" "c.12199C>T" "r.(?)" "p.(Pro4067Ser)" "39"
"0000087192" "00023885" "90" "16295" "0" "16295" "0" "c.16295G>A" "r.(?)" "p.(Arg5432Gln)" "51"
"0000087193" "00023885" "90" "4664" "0" "4664" "0" "c.4664C>T" "r.(?)" "p.(Ser1555Phe)" "17"
"0000087194" "00023885" "90" "8639" "0" "8639" "0" "c.8639T>C" "r.(?)" "p.(Leu2880Pro)" "34"
"0000087195" "00023885" "90" "3095" "0" "3095" "0" "c.3095del" "r.(?)" "p.(Leu1032Argfs*24)" "11"
"0000087196" "00023885" "90" "96" "0" "96" "0" "c.96C>G" "r.(?)" "p.(Asp32Glu)" "2"
"0000087197" "00023885" "90" "4395" "0" "4395" "0" "c.4395dup" "r.(?)" "p.(Lys1466Glnfs*25)" "15"
"0000087198" "00023885" "90" "11638" "0" "11638" "0" "c.11638C>A" "r.(?)" "p.(Leu3880Met)" "39"
"0000087199" "00023885" "90" "4140" "0" "4140" "0" "c.4140T>A" "r.(?)" "p.(Cys1380*)" "14"
"0000087200" "00023885" "90" "11729" "0" "11734" "0" "c.11729_11734del" "r.(?)" "p.(Gln3910_Gln3911del)" "39"
"0000087201" "00023885" "90" "12688" "0" "12688" "0" "c.12688C>T" "r.(?)" "p.(Gln4230*)" "39"
"0000087202" "00023885" "90" "9961" "0" "9961" "0" "c.9961C>T" "r.(?)" "p.(Arg3321*)" "34"
"0000087203" "00023885" "90" "8743" "0" "8743" "0" "c.8743C>T" "r.(?)" "p.(Arg2915*)" "34"
"0000087204" "00023885" "90" "14659" "0" "14659" "0" "c.14659G>T" "r.(?)" "p.(Glu4887*)" "48"
"0000087205" "00023885" "90" "5908" "0" "5915" "0" "c.5908_5915del" "r.(?)" "p.(Asp1970Leufs*20)" "28"
"0000087206" "00023885" "90" "15235" "0" "15238" "0" "c.15235_15238del" "r.(?)" "p.(Asn5079Trpfs*10)" "48"
"0000087207" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000087208" "00023885" "90" "7481" "0" "7481" "0" "c.7481dup" "r.(?)" "p.(Ala2496Serfs*10)" "31"
"0000087209" "00023885" "90" "16413" "-1" "16413" "-1" "c.16413-1G>C" "r.spl" "p.?" "52i"
"0000087210" "00023885" "90" "11796" "0" "11813" "0" "c.11796_11813del" "r.(?)" "p.(Gln3934_Gln3939del)" "39"
"0000087211" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087212" "00023885" "90" "14732" "0" "14732" "0" "c.14732C>T" "r.(?)" "p.(Pro4911Leu)" "48"
"0000087213" "00023885" "90" "16295" "0" "16295" "0" "c.16295G>A" "r.(?)" "p.(Arg5432Gln)" "51"
"0000087214" "00023885" "90" "16295" "0" "16295" "0" "c.16295G>A" "r.(?)" "p.(Arg5432Gln)" "51"
"0000087215" "00023885" "90" "15844" "0" "15844" "0" "c.15844C>T" "r.(?)" "p.(Arg5282*)" "49"
"0000087216" "00023885" "90" "16294" "0" "16294" "0" "c.16294C>T" "r.(?)" "p.(Arg5432Trp)" "51"
"0000087217" "00023885" "90" "9494" "0" "9494" "0" "c.9494del" "r.(?)" "p.(Asp3165Valfs*32)" "34"
"0000087218" "00023885" "90" "8463" "0" "8475" "0" "c.8463_8475del" "r.(?)" "p.(Ala2823Profs*24)" "34"
"0000087219" "00023885" "90" "9931" "0" "9931" "0" "c.9931C>T" "r.(?)" "p.(Gln3311*)" "34"
"0000087220" "00023885" "90" "4693" "1" "4693" "1" "c.4693+1G>A" "r.spl" "p.?" "17i"
"0000087221" "00023885" "90" "5256" "0" "5257" "0" "c.5256_5257del" "r.(?)" "p.(Lys1753Alafs*34)" "22"
"0000087222" "00023885" "90" "6971" "0" "6971" "0" "c.6971dup" "r.(?)" "p.(Asp2325*)" "31"
"0000087223" "00023885" "90" "5845" "0" "5845" "0" "c.5845C>T" "r.(?)" "p.(Gln1949*)" "27"
"0000087224" "00023885" "50" "2992" "0" "2992" "0" "c.2992C>G" "r.(?)" "p.(Pro998Ala)" "11"
"0000087225" "00023885" "90" "6613" "0" "6613" "0" "c.6613dup" "r.(?)" "p.(Ala2205Glyfs*38)" "31"
"0000087226" "00023885" "90" "3161" "0" "3171" "0" "c.3161_3171del" "r.(?)" "p.(Pro1054Hisfs*10)" "11"
"0000087227" "00023885" "90" "16327" "0" "16327" "0" "c.16327del" "r.(?)" "p.(Tyr5443Thrfs*13)" "51"
"0000087228" "00023885" "90" "16085" "0" "16086" "0" "c.16085_16086del" "r.(?)" "p.(Lys5362Serfs*96)" "51"
"0000087229" "00023885" "90" "10694" "0" "10694" "0" "c.10694del" "r.(?)" "p.(Lys3565Serfs*93)" "38"
"0000087230" "00023885" "90" "12183" "0" "12183" "0" "c.12183del" "r.(?)" "p.(Glu4061Aspfs*5)" "39"
"0000087231" "00023885" "90" "16295" "0" "16295" "0" "c.16295G>A" "r.(?)" "p.(Arg5432Gln)" "51"
"0000087232" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454*)" "52"
"0000087233" "00023885" "90" "15330" "0" "15330" "0" "c.15330del" "r.(?)" "p.(Asn5111Metfs*36)" "48"
"0000087234" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087235" "00023885" "90" "4413" "0" "4413" "0" "c.4413C>G" "r.(?)" "p.(Cys1471Trp)" "15"
"0000087236" "00023885" "90" "15842" "0" "15842" "0" "c.15842del" "r.(?)" "p.(Leu5281Argfs*8)" "49"
"0000087237" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000087238" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>T" "r.(?)" "p.(Arg5179Leu)" "48"
"0000087239" "00023885" "90" "2506" "0" "2506" "0" "c.2506dup" "r.(?)" "p.(Gln836Profs*3)" "10"
"0000087240" "00023885" "90" "14975" "0" "14975" "0" "c.14975del" "r.(?)" "p.(Leu4992Argfs*3)" "48"
"0000087241" "00023885" "90" "11473" "0" "11473" "0" "c.11473dup" "r.(?)" "p.(Arg3825Lysfs*187)" "39"
"0000087242" "00023885" "90" "15349" "0" "15349" "0" "c.15349T>G" "r.(?)" "p.(Cys5117Gly)" "48"
"0000087243" "00023885" "90" "2345" "0" "2345" "0" "c.2345del" "r.(?)" "p.(Val782Glyfs*148)" "10"
"0000087244" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000087245" "00023885" "90" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Ala476Hisfs*454)" "10"
"0000087246" "00023885" "90" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Gln3277*)" "34"
"0000087247" "00023885" "90" "8200" "0" "8200" "0" "c.8200C>T" "r.(?)" "p.(Arg2734*)" "32"
"0000087248" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000087249" "00023885" "90" "2164" "0" "2164" "0" "c.2164del" "r.(?)" "p.(Glu722Serfs*208)" "10"
"0000087250" "00023885" "90" "15673" "0" "15673" "0" "c.15673C>T" "r.(?)" "p.(Arg5225Cys)" "48"
"0000087251" "00023885" "90" "12598" "0" "12598" "0" "c.12598C>T" "r.(?)" "p.(Gln4200*)" "39"
"0000087252" "00023885" "90" "6629" "0" "6629" "0" "c.6629del" "r.(?)" "p.(Pro2210Argfs*54)" "31"
"0000087253" "00023885" "90" "3906" "2" "3906" "2" "c.3906+2T>C" "r.spl?" "p.?" "11i"
"0000087254" "00023885" "90" "3626" "0" "3627" "0" "c.3626_3627del" "r.(?)" "p.(Ser1209*)" "11"
"0000087255" "00023885" "90" "11851" "0" "11851" "0" "c.11851C>T" "r.(?)" "p.(Gln3951*)" "39"
"0000087256" "00023885" "90" "9022" "0" "9022" "0" "c.9022G>T" "r.(?)" "p.(Glu3008*)" "34"
"0000087257" "00023885" "90" "751" "0" "751" "0" "c.751dup" "r.(?)" "p.(Tyr251Leufs*22)" "6"
"0000087258" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982*)" "39"
"0000087259" "00023885" "90" "15920" "0" "15920" "0" "c.15920C>G" "r.(?)" "p.(Ser5307*)" "49"
"0000087260" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000087261" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087262" "00023885" "90" "15730" "0" "15730" "0" "c.15730A>T" "r.(?)" "p.(Lys5244*)" "48"
"0000087263" "00023885" "90" "1781" "0" "1781" "0" "c.1781C>T" "r.(?)" "p.(Pro594Leu)" "10"
"0000087264" "00023885" "90" "12469" "0" "12469" "0" "c.12469C>T" "r.(?)" "p.(Gln4157*)" "39"
"0000087265" "00023885" "90" "8366" "2" "8366" "2" "c.8366+2T>C" "r.spl?" "p.?" "33i"
"0000087266" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000087267" "00023885" "90" "12442" "0" "12455" "0" "c.12442_12455del" "r.(?)" "p.(Met4148Serfs*15)" "39"
"0000087268" "00023885" "90" "400" "2" "400" "2" "c.400+2T>C" "r.spl" "p.?" "3i"
"0000087269" "00023885" "90" "13297" "0" "13297" "0" "c.13297dup" "r.(?)" "p.(Arg4433Lysfs*54)" "39"
"0000087270" "00023885" "90" "16315" "0" "16315" "0" "c.16315C>G" "r.(?)" "p.(Arg5439Gly)" "51"
"0000087271" "00023885" "90" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" "48"
"0000087272" "00023885" "90" "1966" "0" "1966" "0" "c.1966dup" "r.(?)" "p.(Leu656Profs*12)" "10"
"0000087273" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000087274" "00023885" "90" "741" "0" "741" "0" "c.741T>A" "r.(?)" "p.(Cys247*)" "6"
"0000087275" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(?)" "p.(Met1379Valfs*52)" "14"
"0000087276" "00023885" "90" "16019" "0" "16019" "0" "c.16019G>A" "r.(?)" "p.(Arg5340Gln)" "50"
"0000087277" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982*)" "39"
"0000087278" "00023885" "90" "1363" "0" "1363" "0" "c.1363del" "r.(?)" "p.(Glu455Asnfs*475)" "10"
"0000087279" "00023885" "90" "11899" "0" "11899" "0" "c.11899C>T" "r.(?)" "p.(Gln3967*)" "39"
"0000087280" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000087281" "00023885" "90" "7199" "0" "7199" "0" "c.7199dup" "r.(?)" "p.(Arg2401Serfs*33)" "31"
"0000087282" "00023885" "90" "3326" "0" "3336" "0" "c.3326_3336del" "r.(?)" "p.(Ala1109Glyfs*2)" "11"
"0000087283" "00023885" "90" "16412" "5" "16412" "5" "c.16412+5G>C" "r.spl" "p.?" "52i"
"0000087284" "00023885" "90" "16501" "0" "16501" "0" "c.16501C>T" "r.(?)" "p.(Arg5501*)" "53"
"0000087285" "00023885" "90" "14516" "-1" "14516" "-1" "c.14516-1G>C" "r.spl" "p.?" "46i"
"0000087286" "00023885" "90" "14945" "0" "14945" "0" "c.14945G>A" "r.(?)" "p.(Trp4982*)" "48"
"0000087287" "00023885" "90" "12943" "0" "12943" "0" "c.12943C>T" "r.(?)" "p.(Gln4315*)" "39"
"0000087288" "00023885" "90" "13040" "0" "13041" "0" "c.13040_13041del" "r.(?)" "p.(Gln4347Argfs*24)" "39"
"0000087289" "00023885" "90" "12955" "0" "12955" "0" "c.12955A>T" "r.(?)" "p.(Arg4319*)" "39"
"0000087290" "00023885" "90" "14946" "0" "14946" "0" "c.14946G>A" "r.(?)" "p.(Trp4982*)" "48"
"0000087291" "00023885" "90" "16501" "0" "16501" "0" "c.16501C>T" "r.(?)" "p.(Arg5501*)" "53"
"0000087292" "00023885" "90" "12413" "0" "12414" "0" "c.12413_12414del" "r.(?)" "p.(Ser4138Cysfs*29)" "39"
"0000087293" "00023885" "90" "16342" "0" "16342" "0" "c.16342C>T" "r.(?)" "p.(Arg5448*)" "52"
"0000087294" "00023885" "90" "14720" "0" "14720" "0" "c.14720C>A" "r.(?)" "p.(Ser4907*)" "48"
"0000087295" "00023885" "90" "7903" "0" "7903" "0" "c.7903C>T" "r.(?)" "p.(Arg2635*)" "31"
"0000087296" "00023885" "90" "15546" "0" "15547" "0" "c.15546_15547insG" "r.(?)" "p.(Leu5183Alafs*16)" "48"
"0000087297" "00023885" "90" "9164" "0" "9164" "0" "c.9164del" "r.(?)" "p.(Pro3055Leufs*16)" "34"
"0000087298" "00023885" "90" "15206" "0" "15206" "0" "c.15206T>A" "r.(?)" "p.(Val5069Glu)" "48"
"0000087299" "00023885" "90" "14055" "0" "14055" "0" "c.14055C>G" "r.(?)" "p.(His4685Gln)" "43"
"0000087300" "00023885" "90" "4214" "0" "4214" "0" "c.4214A>T" "r.(?)" "p.(His1405Leu)" "14"
"0000087301" "00023885" "90" "177" "-2" "177" "-2" "c.177-2A>G" "r.spl" "p.?" "2i"
"0000087302" "00023885" "90" "4799" "0" "4799" "0" "c.4799del" "r.(?)" "p.(Leu1600Argfs*4)" "19"
"0000087303" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087304" "00023885" "90" "5090" "0" "5090" "0" "c.5090del" "r.(?)" "p.(Gly1697Valfs*25)" "21"
"0000087305" "00023885" "90" "6761" "0" "6761" "0" "c.6761A>G" "r.(?)" "p.(Asn2254Ser)" "31"
"0000087306" "00023885" "90" "6987" "0" "6988" "0" "c.6987_6988insT" "r.(?)" "p.(Pro2330Serfs*47)" "31"
"0000087307" "00023885" "90" "12116" "0" "12117" "0" "c.12116_12117del" "r.(?)" "p.(Glu4039Glyfs*17)" "39"
"0000087308" "00023885" "90" "12688" "0" "12688" "0" "c.12688C>T" "r.(?)" "p.(Gln4230*)" "39"
"0000087309" "00023885" "90" "6325" "0" "6325" "0" "c.6325C>T" "r.(?)" "p.(Gln2109*)" "31"
"0000087310" "00023885" "90" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Glu1391Lys)" "14"
"0000087311" "00023885" "90" "15337" "0" "15337" "0" "c.15337dup" "r.(?)" "p.(Tyr5113Leufs*25)" "48"
"0000087312" "00023885" "90" "11728" "0" "11728" "0" "c.11728C>T" "r.(?)" "p.(Gln3910*)" "39"
"0000087313" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000087314" "00023885" "90" "14879" "0" "14889" "0" "c.14879_14889del" "r.(?)" "p.(Arg4960Profs*6)" "48"
"0000087315" "00023885" "90" "13531" "-2" "13531" "-2" "c.13531-2A>C" "r.spl" "p.?" "39i"
"0000087316" "00023885" "90" "13285" "0" "13285" "0" "c.13285C>T" "r.(?)" "p.(Gln4429*)" "39"
"0000087317" "00023885" "90" "14076" "-1" "14076" "-1" "c.14076-1G>A" "r.spl" "p.?" "43i"
"0000087318" "00023885" "90" "14189" "0" "14189" "0" "c.14189G>A" "r.(?)" "p.(Trp4730*)" "44"
"0000087319" "00023885" "90" "9145" "0" "9145" "0" "c.9145C>G" "r.(?)" "p.(Leu3049Val)" "34"
"0000087320" "00023885" "90" "3178" "0" "3178" "0" "c.3178A>T" "r.(?)" "p.(Lys1060*)" "11"
"0000087321" "00023885" "90" "3903" "0" "3903" "0" "c.3903dup" "r.(?)" "p.(Gln1302Thrfs*23)" "11"
"0000087322" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000087323" "00023885" "90" "6416" "0" "6416" "0" "c.6416C>T" "r.(?)" "p.(Ala2139Val)" "31"
"0000087324" "00023885" "90" "2797" "1" "2797" "1" "c.2797+1G>C" "r.(?)" "p.?" "10i"
"0000087325" "00023885" "90" "12986" "0" "13010" "0" "c.12986_13010dup" "r.(?)" "p.(Pro4338Alafs*4)" "39"
"0000087326" "00023885" "90" "7726" "0" "7726" "0" "c.7726C>T" "r.(?)" "p.(Gln2576*)" "31"
"0000087327" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000087328" "00023885" "90" "11645" "0" "11645" "0" "c.11645C>G" "r.(?)" "p.(Ser3882*)" "39"
"0000087329" "00023885" "90" "11524" "0" "11524" "0" "c.11524C>T" "r.(?)" "p.(Gln3842*)" "39"
"0000087330" "00023885" "90" "8200" "0" "8200" "0" "c.8200C>T" "r.(?)" "p.(Arg2734*)" "32"
"0000087331" "00023885" "90" "8410" "0" "8410" "0" "c.8410del" "r.(?)" "p.(Tyr2804Ilefs*47)" "34"
"0000087332" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000087333" "00023885" "90" "5477" "0" "5477" "0" "c.5477G>T" "r.(?)" "p.(Gly1826Val)" "24"
"0000087334" "00023885" "90" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000087335" "00023885" "90" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000087336" "00023885" "90" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000087337" "00023885" "90" "4267" "0" "4267" "0" "c.4267C>G" "r.(?)" "p.(Arg1423Gly)" "15"
"0000087338" "00023885" "90" "11269" "0" "11269" "0" "c.11269C>T" "r.(?)" "p.(Gln3757*)" "39"
"0000087339" "00023885" "90" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Ser940*)" "11"
"0000087340" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000087341" "00023885" "90" "11223" "0" "11225" "0" "c.11223_11225dup" "r.(?)" "p.(Gln3745dup)" "39"
"0000087342" "00023885" "90" "13904" "0" "13904" "0" "c.13904del" "r.(?)" "p.(Gln4635Argfs*5)" "42"
"0000087343" "00023885" "90" "1142" "0" "1143" "0" "c.1142_1143insACCC" "r.(?)" "p.(Thr382Profs*3)" "9"
"0000087344" "00023885" "90" "8709" "0" "8709" "0" "c.8709dup" "r.(?)" "p.(Pro2904Thrfs*8)" "34"
"0000087345" "00023885" "90" "12835" "0" "12835" "0" "c.12835del" "r.(?)" "p.(?)" "39"
"0000087346" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000087347" "00023885" "90" "13446" "0" "13446" "0" "c.13446del" "r.(?)" "p.(Leu4483Cysfs*36)" "39"
"0000087348" "00023885" "90" "15163" "0" "15168" "0" "c.15163_15168del" "r.(?)" "p.(Asp5055_Leu5056del)" "48"
"0000087349" "00023885" "90" "13948" "0" "13948" "0" "c.13948del" "r.(?)" "p.(Glu4650Serfs*16)" "42"
"0000087350" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000087351" "00023885" "90" "4359" "0" "4359" "0" "c.4359C>A" "r.(?)" "p.(His1453Gln)" "15"
"0000087352" "00023885" "90" "6544" "0" "6544" "0" "c.6544G>A" "r.(?)" "p.(Ala2182Thr)" "31"
"0000087353" "00023885" "90" "7282" "0" "7282" "0" "c.7282del" "r.(?)" "p.(Arg2428Glyfs*57)" "31"
"0000087354" "00023885" "90" "8903" "0" "8903" "0" "c.8903dup" "r.(?)" "p.(Ser2969Valfs*4)" "34"
"0000087355" "00023885" "90" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" "48"
"0000087356" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000087357" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000087358" "00023885" "90" "3669" "0" "3669" "0" "c.3669dup" "r.(?)" "p.(Glu1224Argfs*26)" "11"
"0000087359" "00023885" "90" "15545" "0" "15545" "0" "c.15545dup" "r.(?)" "p.(Leu5183Profs*16)" "48"
"0000087360" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000087361" "00023885" "90" "1576" "0" "1577" "0" "c.1576_1577del" "r.(?)" "p.(Ser526Thrfs*7)" "10"
"0000087362" "00023885" "90" "15397" "0" "15397" "0" "c.15397T>C" "r.(?)" "p.(Cys5133Arg)" "48"
"0000087363" "00023885" "90" "10803" "0" "10820" "0" "c.10803_10820dup" "r.(?)" "p.(Gln3607_Gln3612dup)" "39"
"0000087364" "00023885" "90" "12667" "0" "12667" "0" "c.12667C>T" "r.(?)" "p.(Gln4223*)" "39"
"0000087365" "00023885" "90" "1187" "0" "1187" "0" "c.1187C>G" "r.(?)" "p.(Pro396Arg)" "9"
"0000087366" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000087367" "00023885" "90" "11791" "0" "11791" "0" "c.11791C>T" "r.(?)" "p.(Leu3931Phe)" "39"
"0000087368" "00023885" "90" "12301" "0" "12301" "0" "c.12301C>T" "r.(?)" "p.(Gln4101*)" "39"
"0000087369" "00023885" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Gln56*)" "2"
"0000087370" "00023885" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Gln56*)" "2"
"0000087371" "00023885" "90" "11203" "0" "11203" "0" "c.11203C>T" "r.(?)" "p.(Gln3735*)" "39"
"0000087372" "00023885" "90" "13606" "0" "13606" "0" "c.13606C>T" "r.(?)" "p.(Arg4536*)" "40"
"0000087373" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000087374" "00023885" "90" "12700" "0" "12701" "0" "c.12700_12701del" "r.(?)" "p.(Gln4235Glyfs*98)" "39"
"0000087375" "00023885" "90" "5764" "0" "5764" "0" "c.5764C>T" "r.(?)" "p.(Gln1922*)" "26"
"0000087376" "00023885" "90" "11679" "0" "11679" "0" "c.11679del" "r.(?)" "p.(Met3894Trpfs*85)" "39"
"0000087377" "00023885" "90" "13780" "0" "13780" "0" "c.13780del" "r.(?)" "p.(Ala4594Profs*23)" "41"
"0000087378" "00023885" "90" "14873" "0" "14873" "0" "c.14873C>G" "r.(?)" "p.(Ser4958*)" "48"
"0000087379" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000087380" "00023885" "90" "8488" "0" "8488" "0" "c.8488C>T" "r.(?)" "p.(Arg2830*)" "34"
"0000087381" "00023885" "90" "12600" "0" "12604" "0" "c.12600_12604dup" "r.(?)" "p.(Gln4202Argfs*15)" "39"
"0000087382" "00023885" "90" "6962" "0" "6962" "0" "c.6962T>G" "r.(?)" "p.(Leu2321*)" "31"
"0000087383" "00023885" "90" "16052" "0" "16052" "0" "c.16052G>A" "r.(?)" "p.(Arg5351Gln)" "50"
"0000087384" "00023885" "90" "11977" "0" "11977" "0" "c.11977C>T" "r.(?)" "p.(Gln3993*)" "39"
"0000087385" "00023885" "90" "15176" "0" "15176" "0" "c.15176A>G" "r.(?)" "p.(His5059Arg)" "48"
"0000087386" "00023885" "90" "14803" "0" "14803" "0" "c.14803G>T" "r.(?)" "p.(Glu4935*)" "48"
"0000087387" "00023885" "90" "15781" "0" "15781" "0" "c.15781C>T" "r.(?)" "p.(Gln5261*)" "48"
"0000087388" "00023885" "90" "8774" "0" "8774" "0" "c.8774C>T" "r.(?)" "p.(Ala2925Val)" "34"
"0000087389" "00023885" "90" "16116" "0" "16116" "0" "c.16116dup" "r.(?)" "p.(Asn5373Glnfs*86)" "51"
"0000087390" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "48"
"0000087391" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>T" "r.(?)" "p.(Arg5179Leu)" "48"
"0000087392" "00023885" "90" "4093" "0" "4093" "0" "c.4093G>T" "r.(?)" "p.(Val1365Phe)" "13"
"0000087393" "00023885" "90" "6622" "0" "6622" "0" "c.6622C>T" "r.(?)" "p.(Gln2208*)" "30"
"0000087394" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000087395" "00023885" "90" "14515" "1" "14515" "1" "c.14515+1del" "r.spl" "p.?" "46i"
"0000087396" "00023885" "90" "11770" "0" "11770" "0" "c.11770dup" "r.(?)" "p.Gln3924Profs*88" "39"
"0000087397" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.Asp1876Glyfs*38" "25"
"0000087398" "00023885" "90" "3622" "0" "3622" "0" "c.3622A>C" "r.(?)" "p.Ile1208Leu" "11"
"0000087399" "00023885" "90" "3540" "0" "3540" "0" "c.3540del" "r.(?)" "p.Pro1181Hisfs*31" "11"
"0000087400" "00023885" "50" "15100" "0" "15100" "0" "c.15100T>G" "r.(?)" "p.(Phe5034Val)" "48"
"0000087401" "00023885" "50" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "48"
"0000087402" "00023885" "50" "15562" "0" "15562" "0" "c.15562A>G" "r.(?)" "p.(Ile5188Val)" "48"
"0000087403" "00023885" "90" "12964" "0" "12964" "0" "c.12964C>T" "r.(?)" "p.(Gln4322*)" "39"
"0000087404" "00023885" "50" "4252" "0" "4252" "0" "c.4252C>A" "r.(?)" "p.(Leu1418Met)" "15"
"0000087405" "00023885" "50" "10101" "0" "10101" "0" "c.10101G>T" "r.(?)" "p.(Leu3367Phe)" "34"
"0000117178" "00023885" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Gln56*)" "2"
"0000117179" "00023885" "90" "166" "0" "166" "0" "c.166C>T" "r.(?)" "p.(Gln56*)" "2"
"0000117180" "00023885" "90" "741" "0" "741" "0" "c.741T>A" "r.(?)" "p.(Cys247*)" "6"
"0000117181" "00023885" "90" "2398" "0" "2398" "0" "c.2398C>T" "r.(?)" "p.(Gln800*)" "10"
"0000117182" "00023885" "90" "2819" "0" "2819" "0" "c.2819C>G" "r.(?)" "p.(Ser940*)" "11"
"0000117183" "00023885" "90" "3178" "0" "3178" "0" "c.3178A>T" "r.(?)" "p.(Lys1060*)" "11"
"0000117184" "00023885" "90" "4521" "0" "4521" "0" "c.4521C>A" "r.(?)" "p.(Cys1507*)" "16"
"0000117185" "00023885" "90" "5707" "0" "5707" "0" "c.5707C>T" "r.(?)" "p.(Arg1903*)" "26"
"0000117186" "00023885" "90" "5764" "0" "5764" "0" "c.5764C>T" "r.(?)" "p.(Gln1922*)" "26"
"0000117187" "00023885" "90" "6622" "0" "6622" "0" "c.6622C>T" "r.(?)" "p.(Gln2208*)" "30"
"0000117188" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000117189" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000117190" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000117191" "00023885" "90" "6295" "0" "6295" "0" "c.6295C>T" "r.(?)" "p.(Arg2099*)" "31"
"0000117192" "00023885" "90" "6325" "0" "6325" "0" "c.6325C>T" "r.(?)" "p.(Gln2109*)" "31"
"0000117193" "00023885" "90" "6962" "0" "6962" "0" "c.6962T>G" "r.(?)" "p.(Leu2321*)" "31"
"0000117194" "00023885" "90" "7411" "0" "7411" "0" "c.7411C>T" "r.(?)" "p.(Arg2471*)" "31"
"0000117195" "00023885" "90" "7726" "0" "7726" "0" "c.7726C>T" "r.(?)" "p.(Gln2576*)" "31"
"0000117196" "00023885" "90" "7903" "0" "7903" "0" "c.7903C>T" "r.(?)" "p.(Arg2635*)" "31"
"0000117197" "00023885" "90" "7903" "0" "7903" "0" "c.7903C>T" "r.(?)" "p.(Arg2635*)" "31"
"0000117198" "00023885" "90" "8200" "0" "8200" "0" "c.8200C>T" "r.(?)" "p.(Arg2734*)" "32"
"0000117199" "00023885" "90" "8200" "0" "8200" "0" "c.8200C>T" "r.(?)" "p.(Arg2734*)" "32"
"0000117200" "00023885" "90" "8488" "0" "8488" "0" "c.8488C>T" "r.(?)" "p.(Arg2830*)" "34"
"0000117201" "00023885" "90" "8743" "0" "8743" "0" "c.8743C>T" "r.(?)" "p.(Arg2915*)" "34"
"0000117202" "00023885" "90" "9022" "0" "9022" "0" "c.9022G>T" "r.(?)" "p.(Glu3008*)" "34"
"0000117203" "00023885" "90" "9820" "0" "9820" "0" "c.9820C>T" "r.(?)" "p.(Gln3274*)" "34"
"0000117204" "00023885" "90" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Gln3277*)" "34"
"0000117205" "00023885" "90" "11203" "0" "11203" "0" "c.11203C>T" "r.(?)" "p.(Gln3735*)" "39"
"0000117206" "00023885" "90" "11269" "0" "11269" "0" "c.11269C>T" "r.(?)" "p.(Gln3757*)" "39"
"0000117207" "00023885" "90" "11377" "0" "11377" "0" "c.11377C>T" "r.(?)" "p.(Gln3793*)" "39"
"0000117208" "00023885" "90" "11524" "0" "11524" "0" "c.11524C>T" "r.(?)" "p.(Gln3842*)" "39"
"0000117209" "00023885" "90" "11632" "0" "11632" "0" "c.11632C>T" "r.(?)" "p.(Gln3878*)" "39"
"0000117210" "00023885" "90" "11645" "0" "11645" "0" "c.11645C>G" "r.(?)" "p.(Ser3882*)" "39"
"0000117211" "00023885" "90" "11728" "0" "11728" "0" "c.11728C>T" "r.(?)" "p.(Gln3910*)" "39"
"0000117212" "00023885" "90" "11851" "0" "11851" "0" "c.11851C>T" "r.(?)" "p.(Gln3951*)" "39"
"0000117213" "00023885" "90" "11899" "0" "11899" "0" "c.11899C>T" "r.(?)" "p.(Gln3967*)" "39"
"0000117214" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982*)" "39"
"0000117215" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982*)" "39"
"0000117216" "00023885" "90" "11977" "0" "11977" "0" "c.11977C>T" "r.(?)" "p.(Gln3993*)" "39"
"0000117217" "00023885" "90" "12301" "0" "12301" "0" "c.12301C>T" "r.(?)" "p.(Gln4101*)" "39"
"0000117218" "00023885" "90" "12469" "0" "12469" "0" "c.12469C>T" "r.(?)" "p.(Gln4157*)" "39"
"0000117219" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000117220" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198*)" "39"
"0000117221" "00023885" "90" "12598" "0" "12598" "0" "c.12598C>T" "r.(?)" "p.(Gln4200*)" "39"
"0000117222" "00023885" "90" "12655" "0" "12655" "0" "c.12655C>T" "r.(?)" "p.(Gln4219*)" "39"
"0000117223" "00023885" "90" "12667" "0" "12667" "0" "c.12667C>T" "r.(?)" "p.(Gln4223*)" "39"
"0000117224" "00023885" "90" "12688" "0" "12688" "0" "c.12688C>T" "r.(?)" "p.(Gln4230*)" "39"
"0000117225" "00023885" "90" "12760" "0" "12760" "0" "c.12760C>T" "r.(?)" "p.(Gln4254*)" "39"
"0000117226" "00023885" "90" "12943" "0" "12943" "0" "c.12943C>T" "r.(?)" "p.(Gln4315*)" "39"
"0000117227" "00023885" "90" "12955" "0" "12955" "0" "c.12955A>T" "r.(?)" "p.(Arg4319*)" "39"
"0000117228" "00023885" "90" "12964" "0" "12964" "0" "c.12964C>T" "r.(?)" "p.(Gln4322*)" "39"
"0000117229" "00023885" "90" "13285" "0" "13285" "0" "c.13285C>T" "r.(?)" "p.(Gln4429*)" "39"
"0000117230" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000117231" "00023885" "90" "13450" "0" "13450" "0" "c.13450C>T" "r.(?)" "p.(Arg4484*)" "39"
"0000117232" "00023885" "90" "13606" "0" "13606" "0" "c.13606C>T" "r.(?)" "p.(Arg4536*)" "40"
"0000117233" "00023885" "90" "14189" "0" "14189" "0" "c.14189G>A" "r.(?)" "p.(Trp4730*)" "44"
"0000117234" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000117235" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904*)" "48"
"0000117236" "00023885" "90" "14720" "0" "14720" "0" "c.14720C>A" "r.(?)" "p.(Ser4907*)" "48"
"0000117237" "00023885" "90" "14803" "0" "14803" "0" "c.14803G>T" "r.(?)" "p.(Glu4935*)" "48"
"0000117238" "00023885" "90" "14873" "0" "14873" "0" "c.14873C>G" "r.(?)" "p.(Ser4958*)" "48"
"0000117239" "00023885" "90" "14945" "0" "14945" "0" "c.14945G>A" "r.(?)" "p.(Trp4982*)" "48"
"0000117240" "00023885" "90" "14946" "0" "14946" "0" "c.14946G>A" "r.(?)" "p.(Trp4982*)" "48"
"0000117241" "00023885" "90" "14946" "0" "14946" "0" "c.14946G>A" "r.(?)" "p.(Trp4982*)" "48"
"0000117242" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000117243" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000117244" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000117245" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" "48"
"0000117246" "00023885" "90" "15256" "0" "15256" "0" "c.15256C>T" "r.(?)" "p.(Arg5086*)" "48"
"0000117247" "00023885" "90" "15730" "0" "15730" "0" "c.15730A>T" "r.(?)" "p.(Lys5244*)" "48"
"0000117248" "00023885" "90" "15781" "0" "15781" "0" "c.15781C>T" "r.(?)" "p.(Gln5261*)" "48"
"0000117249" "00023885" "90" "15920" "0" "15920" "0" "c.15920C>G" "r.(?)" "p.(Ser5307*)" "49"
"0000117250" "00023885" "90" "16342" "0" "16342" "0" "c.16342C>T" "r.(?)" "p.(Arg5448*)" "52"
"0000117251" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454*)" "52"
"0000117252" "00023885" "90" "16501" "0" "16501" "0" "c.16501C>T" "r.(?)" "p.(Arg5501*)" "53"
"0000117253" "00023885" "90" "16501" "0" "16501" "0" "c.16501C>T" "r.(?)" "p.(Arg5501*)" "53"
"0000117254" "00023885" "90" "1363" "0" "1363" "0" "c.1363del" "r.(?)" "p.(Glu455Asnfs*475)" "10"
"0000117255" "00023885" "90" "1425" "0" "1425" "0" "c.1425del" "r.(?)" "p.(Ala476Hisfs*454)" "10"
"0000117256" "00023885" "90" "1576" "0" "1577" "0" "c.1576_1577del" "r.(?)" "p.(Ser526Thrfs*7)" "10"
"0000117257" "00023885" "90" "2164" "0" "2164" "0" "c.2164del" "r.(?)" "p.(Glu722Serfs*208)" "10"
"0000117258" "00023885" "90" "2345" "0" "2345" "0" "c.2345del" "r.(?)" "p.(Val782Glyfs*148)" "10"
"0000117259" "00023885" "90" "3251" "0" "3255" "0" "c.3251_3255del" "r.(?)" "p.(Pro1084Leufs*29)" "11"
"0000117260" "00023885" "90" "3326" "0" "3336" "0" "c.3326_3336del" "r.(?)" "p.(Ala1109Glyfs*2)" "11"
"0000117261" "00023885" "90" "3540" "0" "3540" "0" "c.3540del" "r.(?)" "p.(Pro1181Hisfs*31)" "11"
"0000117262" "00023885" "90" "3626" "0" "3627" "0" "c.3626_3627del" "r.(?)" "p.(Ser1209*)" "11"
"0000117263" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(?)" "p.(Met1379Valfs*52)" "14"
"0000117264" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(?)" "p.(Met1379Valfs*52)" "14"
"0000117265" "00023885" "90" "4799" "0" "4799" "0" "c.4799del" "r.(?)" "p.(Leu1600Argfs*4)" "19"
"0000117266" "00023885" "90" "5090" "0" "5090" "0" "c.5090del" "r.(?)" "p.(Gly1697Valfs*25)" "21"
"0000117267" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.(Asp1876Glyfs*38)" "25"
"0000117268" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.(Asp1876Glyfs*38)" "25"
"0000117269" "00023885" "90" "5819" "0" "5819" "0" "c.5819del" "r.(?)" "p.(Pro1940Glnfs*107)" "27"
"0000117270" "00023885" "90" "6278" "0" "6279" "0" "c.6278_6279del" "r.(?)" "p.(Ile2093Serfs*3)" "31"
"0000117271" "00023885" "90" "6480" "0" "6483" "0" "c.6480_6483del" "r.(?)" "p.(Phe2160Leufs*103)" "31"
"0000117272" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000117273" "00023885" "90" "6629" "0" "6629" "0" "c.6629del" "r.(?)" "p.(Pro2210Argfs*54)" "31"
"0000117274" "00023885" "90" "6794" "0" "6794" "0" "c.6794del" "r.(?)" "p.(Gly2265Glufs*21)" "31"
"0000117275" "00023885" "90" "7282" "0" "7282" "0" "c.7282del" "r.(?)" "p.(Arg2428Glyfs*57)" "31"
"0000117276" "00023885" "90" "8027" "0" "8028" "0" "c.8027_8028del" "r.(?)" "p.(Glu2676Alafs*47)" "31"
"0000117277" "00023885" "90" "8410" "0" "8410" "0" "c.8410del" "r.(?)" "p.(Tyr2804Ilefs*47)" "34"
"0000117278" "00023885" "90" "9164" "0" "9164" "0" "c.9164del" "r.(?)" "p.(Pro3055Leufs*16)" "34"
"0000117279" "00023885" "90" "9579" "0" "9597" "0" "c.9579_9597del" "r.(?)" "p.(Leu3195*)" "34"
"0000117280" "00023885" "90" "10694" "0" "10694" "0" "c.10694del" "r.(?)" "p.(Lys3565Serfs*93)" "38"
"0000117281" "00023885" "90" "11679" "0" "11679" "0" "c.11679del" "r.(?)" "p.(Met3894Trpfs*85)" "39"
"0000117282" "00023885" "90" "12116" "0" "12117" "0" "c.12116_12117del" "r.(?)" "p.(Glu4039Glyfs*17)" "39"
"0000117283" "00023885" "90" "12183" "0" "12183" "0" "c.12183del" "r.(?)" "p.(Glu4061Aspfs*5)" "39"
"0000117284" "00023885" "90" "12413" "0" "12414" "0" "c.12413_12414del" "r.(?)" "p.(Ser4138Cysfs*29)" "39"
"0000117285" "00023885" "90" "12442" "0" "12455" "0" "c.12442_12455del" "r.(?)" "p.(Met4148Serfs*15)" "39"
"0000117286" "00023885" "90" "12700" "0" "12701" "0" "c.12700_12701del" "r.(?)" "p.(Gln4235Glyfs*98)" "39"
"0000117287" "00023885" "90" "12811" "0" "12814" "0" "c.12811_12814del" "r.(?)" "p.(Thr4271Alafs*6)" "39"
"0000117288" "00023885" "90" "12835" "0" "12835" "0" "c.12835del" "r.(?)" "p.(Ala4279Glnfs*105)" "39"
"0000117289" "00023885" "90" "13040" "0" "13041" "0" "c.13040_13041del" "r.(?)" "p.(Gln4347Argfs*24)" "39"
"0000117290" "00023885" "90" "13446" "0" "13446" "0" "c.13446del" "r.(?)" "p.(Leu4483Cysfs*36)" "39"
"0000117291" "00023885" "90" "13780" "0" "13780" "0" "c.13780del" "r.(?)" "p.(Ala4594Profs*23)" "41"
"0000117292" "00023885" "90" "13904" "0" "13904" "0" "c.13904del" "r.(?)" "p.(Gln4635Argfs*5)" "42"
"0000117293" "00023885" "90" "13948" "0" "13948" "0" "c.13948del" "r.(?)" "p.(Glu4650Serfs*16)" "42"
"0000117294" "00023885" "90" "14879" "0" "14889" "0" "c.14879_14889del" "r.(?)" "p.(Arg4960Profs*6)" "48"
"0000117295" "00023885" "90" "14975" "0" "14975" "0" "c.14975del" "r.(?)" "p.(Leu4992Argfs*3)" "48"
"0000117296" "00023885" "50" "15163" "0" "15168" "0" "c.15163_15168del" "r.(?)" "p.(Asp5055_Leu5056del)" "48"
"0000117297" "00023885" "90" "15330" "0" "15330" "0" "c.15330del" "r.(?)" "p.(Asn5111Metfs*36)" "48"
"0000117298" "00023885" "90" "15842" "0" "15842" "0" "c.15842del" "r.(?)" "p.(Leu5281Argfs*8)" "49"
"0000117299" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000117300" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000117301" "00023885" "90" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" "53"
"0000117302" "00023885" "90" "751" "0" "751" "0" "c.751dup" "r.(?)" "p.(Tyr251Leufs*22)" "6"
"0000117303" "00023885" "90" "1142" "0" "1143" "0" "c.1142_1143insACCC" "r.(?)" "p.(Thr382Profs*3)" "9"
"0000117304" "00023885" "90" "1966" "0" "1966" "0" "c.1966dup" "r.(?)" "p.(Leu656Profs*12)" "10"
"0000117305" "00023885" "90" "2506" "0" "2506" "0" "c.2506dup" "r.(?)" "p.(Gln836Profs*3)" "10"
"0000117306" "00023885" "90" "3669" "0" "3669" "0" "c.3669dup" "r.(?)" "p.(Glu1224Argfs*26)" "11"
"0000117307" "00023885" "90" "3859" "0" "3859" "0" "c.3859dup" "r.(?)" "p.(Glu1287Glyfs*38)" "11"
"0000117308" "00023885" "90" "3903" "0" "3903" "0" "c.3903dup" "r.(?)" "p.(Gln1302Thrfs*23)" "11"
"0000117309" "00023885" "90" "5395" "0" "5398" "0" "c.5395_5398dup" "r.(?)" "p.(Gly1800Valfs*27)" "23"
"0000117310" "00023885" "90" "6987" "0" "6988" "0" "c.6987_6988insT" "r.(?)" "p.(Pro2330Serfs*47)" "31"
"0000117311" "00023885" "90" "7061" "0" "7061" "0" "c.7061dup" "r.(?)" "p.(Ala2355Cysfs*22)" "31"
"0000117312" "00023885" "90" "7199" "0" "7199" "0" "c.7199dup" "r.(?)" "p.(Arg2401Serfs*33)" "31"
"0000117313" "00023885" "90" "7378" "0" "7378" "0" "c.7378dup" "r.(?)" "p.(Arg2460Profs*2)" "31"
"0000117314" "00023885" "90" "8709" "0" "8709" "0" "c.8709dup" "r.(?)" "p.(Pro2904Thrfs*8)" "34"
"0000117315" "00023885" "90" "8903" "0" "8903" "0" "c.8903dup" "r.(?)" "p.(Ser2969Valfs*4)" "34"
"0000117316" "00023885" "50" "11223" "0" "11225" "0" "c.11223_11225dup" "r.(?)" "p.(Gln3745dup)" "39"
"0000117317" "00023885" "90" "11473" "0" "11473" "0" "c.11473dup" "r.(?)" "p.(Arg3825Lysfs*187)" "39"
"0000117318" "00023885" "90" "11770" "0" "11770" "0" "c.11770dup" "r.(?)" "p.(Gln3924Profs*88)" "39"
"0000117319" "00023885" "90" "12600" "0" "12604" "0" "c.12600_12604dup" "r.(?)" "p.(Gln4202Argfs*15)" "39"
"0000117320" "00023885" "90" "12986" "0" "13010" "0" "c.12986_13010dup" "r.(?)" "p.(Pro4338Alafs*4)" "39"
"0000117321" "00023885" "90" "13297" "0" "13297" "0" "c.13297dup" "r.(?)" "p.(Arg4433Lysfs*54)" "39"
"0000117322" "00023885" "90" "15337" "0" "15337" "0" "c.15337dup" "r.(?)" "p.(Tyr5113Leufs*25)" "48"
"0000117323" "00023885" "90" "15545" "0" "15545" "0" "c.15545dup" "r.(?)" "p.(Leu5183Profs*16)" "48"
"0000117324" "00023885" "90" "15546" "0" "15547" "0" "c.15546_15547insG" "r.(?)" "p.(Leu5183Alafs*16)" "48"
"0000117325" "00023885" "90" "16116" "0" "16116" "0" "c.16116dup" "r.(?)" "p.(Asn5373Glnfs*86)" "51"
"0000117326" "00023885" "50" "3622" "0" "3622" "0" "c.3622A>C" "r.(?)" "p.(Ile1208Leu)" "11"
"0000117327" "00023885" "50" "4093" "0" "4093" "0" "c.4093G>T" "r.(?)" "p.(Val1365Phe)" "13"
"0000117328" "00023885" "90" "4171" "0" "4171" "0" "c.4171G>A" "r.(?)" "p.(Glu1391Lys)" "14"
"0000117329" "00023885" "90" "4214" "0" "4214" "0" "c.4214A>T" "r.(?)" "p.(His1405Leu)" "14"
"0000117330" "00023885" "50" "4267" "0" "4267" "0" "c.4267C>G" "r.(?)" "p.(Arg1423Gly)" "15"
"0000117331" "00023885" "50" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000117332" "00023885" "50" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000117333" "00023885" "50" "4267" "0" "4267" "0" "c.4267C>T" "r.(?)" "p.(Arg1423Cys)" "15"
"0000117334" "00023885" "50" "4359" "0" "4359" "0" "c.4359C>A" "r.(?)" "p.(His1453Gln)" "15"
"0000117335" "00023885" "90" "4413" "0" "4413" "0" "c.4413C>G" "r.(?)" "p.(Cys1471Trp)" "15"
"0000117336" "00023885" "50" "6109" "0" "6109" "0" "c.6109G>C" "r.(?)" "p.(Asp2037His)" "31"
"0000117337" "00023885" "50" "6544" "0" "6544" "0" "c.6544G>A" "r.(?)" "p.(Ala2182Thr)" "31"
"0000117338" "00023885" "90" "9145" "0" "9145" "0" "c.9145C>G" "r.(?)" "p.(Leu3049Val)" "34"
"0000117339" "00023885" "50" "11791" "0" "11791" "0" "c.11791C>T" "r.(?)" "p.(Leu3931Phe)" "39"
"0000117340" "00023885" "90" "14055" "0" "14055" "0" "c.14055C>G" "r.(?)" "p.(His4685Gln)" "43"
"0000117341" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000117342" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000117343" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000117344" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000117345" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" "48"
"0000117346" "00023885" "50" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" "48"
"0000117347" "00023885" "50" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" "48"
"0000117348" "00023885" "50" "15176" "0" "15176" "0" "c.15176A>G" "r.(?)" "p.(His5059Arg)" "48"
"0000117349" "00023885" "90" "15206" "0" "15206" "0" "c.15206T>A" "r.(?)" "p.(Val5069Glu)" "48"
"0000117350" "00023885" "90" "15349" "0" "15349" "0" "c.15349T>G" "r.(?)" "p.(Cys5117Gly)" "48"
"0000117351" "00023885" "50" "15397" "0" "15397" "0" "c.15397T>C" "r.(?)" "p.(Cys5133Arg)" "48"
"0000117352" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000117353" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" "48"
"0000117354" "00023885" "90" "15535" "0" "15535" "0" "c.15535C>T" "r.(?)" "p.(Arg5179Cys)" "48"
"0000117355" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000117356" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" "48"
"0000117357" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>T" "r.(?)" "p.(Arg5179Leu)" "48"
"0000117358" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>T" "r.(?)" "p.(Arg5179Leu)" "48"
"0000117359" "00023885" "90" "15565" "0" "15565" "0" "c.15565G>A" "r.(?)" "p.(Gly5189Arg)" "48"
"0000117360" "00023885" "90" "15634" "0" "15634" "0" "c.15634G>C" "r.(?)" "p.(Ala5212Pro)" "48"
"0000117361" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "48"
"0000117362" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" "48"
"0000117363" "00023885" "90" "15673" "0" "15673" "0" "c.15673C>T" "r.(?)" "p.(Arg5225Cys)" "48"
"0000117364" "00023885" "90" "16019" "0" "16019" "0" "c.16019G>A" "r.(?)" "p.(Arg5340Gln)" "50"
"0000117365" "00023885" "90" "16052" "0" "16052" "0" "c.16052G>A" "r.(?)" "p.(Arg5351Gln)" "50"
"0000117366" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000117367" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" "51"
"0000117368" "00023885" "90" "16295" "0" "16295" "0" "c.16295G>A" "r.(?)" "p.(Arg5432Gln)" "51"
"0000117369" "00023885" "90" "16315" "0" "16315" "0" "c.16315C>G" "r.(?)" "p.(Arg5439Gly)" "51"
"0000117370" "00023885" "90" "16442" "0" "16442" "0" "c.16442G>A" "r.(?)" "p.(Cys5481Tyr)" "53"
"0000117371" "00023885" "90" "177" "-2" "177" "-2" "c.177-2A>G" "r.spl" "p.?" "2i"
"0000117372" "00023885" "90" "400" "2" "400" "2" "c.400+2T>C" "r.spl" "p.?" "3i"
"0000117373" "00023885" "90" "839" "2" "839" "2" "c.839+2T>A" "r.spl" "p.?" "6i"
"0000117374" "00023885" "90" "2797" "1" "2797" "1" "c.2797+1G>C" "r.spl" "p.?" "10i"
"0000117375" "00023885" "90" "3906" "1" "3906" "1" "c.3906+1G>T" "r.spl" "p.?" "11i"
"0000117376" "00023885" "90" "3906" "2" "3906" "2" "c.3906+2T>C" "r.spl" "p.?" "11i"
"0000117377" "00023885" "90" "8366" "2" "8366" "2" "c.8366+2T>C" "r.spl" "p.?" "33i"
"0000117378" "00023885" "90" "13531" "-2" "13531" "-2" "c.13531-2A>C" "r.spl" "p.?" "39i"
"0000117379" "00023885" "90" "14076" "-1" "14076" "-1" "c.14076-1G>A" "r.spl" "p.?" "43i"
"0000117380" "00023885" "90" "14515" "1" "14515" "1" "c.14515+1del" "r.spl" "p.?" "46i"
"0000117381" "00023885" "90" "14516" "-1" "14516" "-1" "c.14516-1G>C" "r.spl" "p.?" "46i"
"0000117382" "00023885" "90" "14643" "1" "14643" "1" "c.14643+1G>T" "r.spl" "p.?" "47i"
"0000117383" "00023885" "90" "15784" "5" "15784" "5" "c.15784+5G>A" "r.spl?" "p.(?)" "48i"
"0000117384" "00023885" "90" "16412" "4" "16412" "4" "c.16412+4A>G" "r.spl?" "p.(?)" "52i"
"0000117385" "00023885" "90" "16412" "5" "16412" "5" "c.16412+5G>C" "r.spl?" "p.(?)" "52i"
"0000117386" "00023885" "90" "16371" "0" "16374" "0" "c.16371_16374del" "r.(?)" "p.(Glu5458Metfs*2)" "52"
"0000117387" "00023885" "90" "8743" "0" "8743" "0" "c.8743C>T" "r.(?)" "p.(Arg2915*)" "34"
"0000117388" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.(Asp1876Glyfs*38)" "25"
"0000117389" "00023885" "30" "3790" "0" "3790" "0" "c.3790C>G" "r.(?)" "p.(Leu1264Val)" "11"
"0000117390" "00023885" "30" "6629" "0" "6629" "0" "c.6629C>T" "r.(?)" "p.(Pro2210Leu)" "31"
"0000117391" "00023885" "30" "7716" "0" "7716" "0" "c.7716G>T" "r.(?)" "p.(Leu2572Phe)" "31"
"0000117392" "00023885" "30" "15053" "0" "15053" "0" "c.15053C>T" "r.(?)" "p.(Thr5018Ile)" "48"
"0000165284" "00023885" "90" "10108" "0" "10108" "0" "c.10108del" "r.(?)" "p.(Gln3370Serfs*22)" "8"
"0000168992" "00023885" "50" "4817" "0" "4817" "0" "c.4817C>T" "r.(?)" "p.(Ser1606Leu)" ""
"0000169333" "00023885" "00" "13973" "0" "13973" "0" "c.13973C>T" "r.(?)" "p.(Ala4658Val)" ""
"0000249451" "00023885" "30" "1850" "0" "1850" "0" "c.1850T>A" "r.(?)" "p.(Leu617His)" ""
"0000253691" "00023885" "10" "12028" "0" "12028" "0" "c.12028T>C" "r.(?)" "p.(Ser4010Pro)" ""
"0000254295" "00023885" "30" "13455" "0" "13455" "0" "c.13455T>G" "r.(?)" "p.(Ala4485=)" ""
"0000254880" "00023885" "30" "2052" "0" "2052" "0" "c.2052T>A" "r.(?)" "p.(Pro684=)" ""
"0000255021" "00023885" "30" "1762" "0" "1762" "0" "c.1762T>C" "r.(?)" "p.(Ser588Pro)" ""
"0000255133" "00023885" "30" "10847" "0" "10847" "0" "c.10847T>C" "r.(?)" "p.(Val3616Ala)" ""
"0000255277" "00023885" "30" "3907" "-9" "3907" "-9" "c.3907-9T>G" "r.(=)" "p.(=)" ""
"0000281832" "00023885" "90" "10001" "0" "10007" "0" "c.10001_10007del" "r.(?)" "p.(Pro3334LeufsTer22)" ""
"0000281833" "00023885" "10" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" ""
"0000281835" "00023885" "50" "10873" "0" "10873" "0" "c.10873C>A" "r.(?)" "p.(Pro3625Thr)" ""
"0000281837" "00023885" "30" "16412" "16" "16412" "16" "c.16412+16del" "r.(=)" "p.(=)" ""
"0000281838" "00023885" "30" "1793" "0" "1793" "0" "c.1793G>A" "r.(?)" "p.(Arg598His)" ""
"0000281839" "00023885" "50" "1923" "0" "1923" "0" "c.1923A>C" "r.(?)" "p.(Glu641Asp)" ""
"0000281840" "00023885" "50" "2038" "0" "2038" "0" "c.2038A>C" "r.(?)" "p.(Thr680Pro)" ""
"0000281841" "00023885" "50" "2481" "0" "2481" "0" "c.2481A>C" "r.(?)" "p.(Gln827His)" ""
"0000281842" "00023885" "30" "2534" "0" "2534" "0" "c.2534G>T" "r.(?)" "p.(Arg845Leu)" ""
"0000281843" "00023885" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Gly1467=)" ""
"0000281844" "00023885" "10" "7479" "0" "7479" "0" "c.7479G>T" "r.(?)" "p.(Gly2493=)" ""
"0000281845" "00023885" "90" "7933" "0" "7933" "0" "c.7933C>T" "r.(?)" "p.(Arg2645Ter)" ""
"0000281846" "00023885" "30" "8047" "-7" "8047" "-7" "c.8047-7dup" "r.(=)" "p.(=)" ""
"0000283502" "00023885" "70" "1258" "5" "1258" "5" "c.1258+5G>A" "r.spl?" "p.?" ""
"0000283503" "00023885" "50" "12635" "0" "12635" "0" "c.12635G>A" "r.(?)" "p.(Arg4212Gln)" ""
"0000285842" "00023885" "30" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" ""
"0000285843" "00023885" "30" "1305" "0" "1305" "0" "c.1305C>T" "r.(?)" "p.(Asn435=)" ""
"0000285844" "00023885" "90" "15256" "0" "15256" "0" "c.15256C>T" "r.(?)" "p.(Arg5086Ter)" ""
"0000285845" "00023885" "30" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" ""
"0000285846" "00023885" "30" "4004" "0" "4004" "0" "c.4004C>G" "r.(?)" "p.(Ser1335Cys)" ""
"0000285847" "00023885" "30" "4542" "0" "4542" "0" "c.4542C>T" "r.(?)" "p.(Tyr1514=)" ""
"0000285848" "00023885" "10" "7144" "0" "7144" "0" "c.7144C>T" "r.(?)" "p.(Pro2382Ser)" ""
"0000290449" "00023885" "10" "10045" "0" "10045" "0" "c.10045A>G" "r.(?)" "p.(Met3349Val)" ""
"0000290450" "00023885" "50" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Cys)" ""
"0000290451" "00023885" "30" "11380" "0" "11380" "0" "c.11380C>T" "r.(?)" "p.(Pro3794Ser)" ""
"0000290452" "00023885" "50" "11844" "0" "11864" "0" "c.11844_11864del" "r.(?)" "p.(Leu3955_Gln3961del)" ""
"0000290453" "00023885" "50" "12509" "0" "12509" "0" "c.12509C>T" "r.(?)" "p.(Pro4170Leu)" ""
"0000290454" "00023885" "50" "12617" "0" "12617" "0" "c.12617C>T" "r.(?)" "p.(Ala4206Val)" ""
"0000290456" "00023885" "50" "13058" "0" "13058" "0" "c.13058C>T" "r.(?)" "p.(Pro4353Leu)" ""
"0000290457" "00023885" "10" "13644" "0" "13644" "0" "c.13644C>T" "r.(?)" "p.(Ser4548=)" ""
"0000290458" "00023885" "50" "13756" "0" "13756" "0" "c.13756A>T" "r.(?)" "p.(Asn4586Tyr)" ""
"0000290459" "00023885" "30" "13890" "0" "13890" "0" "c.13890A>C" "r.(?)" "p.(Pro4630=)" ""
"0000290460" "00023885" "30" "14425" "0" "14425" "0" "c.14425A>G" "r.(?)" "p.(Met4809Val)" ""
"0000290461" "00023885" "30" "14512" "0" "14512" "0" "c.14512C>T" "r.(?)" "p.(Pro4838Ser)" ""
"0000290462" "00023885" "50" "14830" "0" "14830" "0" "c.14830C>G" "r.(?)" "p.(Pro4944Ala)" ""
"0000290463" "00023885" "50" "1487" "0" "1487" "0" "c.1487C>T" "r.(?)" "p.(Pro496Leu)" ""
"0000290464" "00023885" "50" "15565" "0" "15565" "0" "c.15565G>A" "r.(?)" "p.(Gly5189Arg)" ""
"0000290465" "00023885" "30" "2992" "0" "2992" "0" "c.2992C>A" "r.(?)" "p.(Pro998Thr)" ""
"0000290466" "00023885" "30" "3365" "0" "3365" "0" "c.3365C>T" "r.(?)" "p.(Thr1122Ile)" ""
"0000290467" "00023885" "30" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Pro1131Leu)" ""
"0000290468" "00023885" "30" "3666" "0" "3666" "0" "c.3666C>T" "r.(?)" "p.(Gly1222=)" ""
"0000290469" "00023885" "30" "3819" "0" "3819" "0" "c.3819C>T" "r.(?)" "p.(Cys1273=)" ""
"0000290470" "00023885" "30" "3885" "0" "3885" "0" "c.3885A>C" "r.(?)" "p.(Pro1295=)" ""
"0000290471" "00023885" "50" "444" "0" "444" "0" "c.444C>T" "r.(?)" "p.(Gly148=)" ""
"0000290472" "00023885" "30" "4525" "0" "4525" "0" "c.4525A>G" "r.(?)" "p.(Ile1509Val)" ""
"0000290473" "00023885" "50" "5477" "0" "5477" "0" "c.5477G>T" "r.(?)" "p.(Gly1826Val)" ""
"0000290474" "00023885" "30" "5913" "0" "5913" "0" "c.5913C>T" "r.(?)" "p.(Ser1971=)" ""
"0000290475" "00023885" "50" "6347" "0" "6347" "0" "c.6347C>A" "r.(?)" "p.(Pro2116Gln)" ""
"0000290476" "00023885" "30" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Pro2118=)" ""
"0000290477" "00023885" "30" "6573" "0" "6573" "0" "c.6573G>A" "r.(?)" "p.(Thr2191=)" ""
"0000290478" "00023885" "50" "6733" "0" "6733" "0" "c.6733C>G" "r.(?)" "p.(Leu2245Val)" ""
"0000290479" "00023885" "10" "6752" "0" "6752" "0" "c.6752C>T" "r.(?)" "p.(Ser2251Leu)" ""
"0000290480" "00023885" "50" "6845" "0" "6845" "0" "c.6845G>T" "r.(?)" "p.(Arg2282Leu)" ""
"0000290481" "00023885" "90" "7086" "0" "7087" "0" "c.7086_7087del" "r.(?)" "p.(Pro2363LysfsTer13)" ""
"0000290482" "00023885" "30" "7170" "0" "7170" "0" "c.7170G>A" "r.(?)" "p.(Pro2390=)" ""
"0000290483" "00023885" "10" "7670" "0" "7670" "0" "c.7670C>T" "r.(?)" "p.(Pro2557Leu)" ""
"0000290484" "00023885" "30" "7705" "0" "7705" "0" "c.7705G>A" "r.(?)" "p.(Gly2569Ser)" ""
"0000290485" "00023885" "30" "7954" "0" "7954" "0" "c.7954A>C" "r.(?)" "p.(Met2652Leu)" ""
"0000290486" "00023885" "30" "8356" "0" "8356" "0" "c.8356G>A" "r.(?)" "p.(Val2786Met)" ""
"0000290487" "00023885" "30" "8774" "0" "8774" "0" "c.8774C>T" "r.(?)" "p.(Ala2925Val)" ""
"0000290488" "00023885" "50" "9295" "0" "9295" "0" "c.9295C>T" "r.(?)" "p.(Arg3099Cys)" ""
"0000290489" "00023885" "30" "9739" "0" "9739" "0" "c.9739C>T" "r.(?)" "p.(Leu3247=)" ""
"0000290490" "00023885" "50" "9913" "0" "9913" "0" "c.9913A>G" "r.(?)" "p.(Ser3305Gly)" ""
"0000322781" "00023885" "50" "19668" "0" "19668" "0" "c.*3054G>A" "r.(=)" "p.(=)" ""
"0000322782" "00023885" "50" "16053" "-8" "16053" "-8" "c.16053-8C>T" "r.(=)" "p.(=)" ""
"0000322784" "00023885" "30" "15502" "0" "15502" "0" "c.15502A>G" "r.(?)" "p.(Ile5168Val)" ""
"0000322785" "00023885" "30" "15272" "0" "15272" "0" "c.15272A>G" "r.(?)" "p.(Lys5091Arg)" ""
"0000322787" "00023885" "30" "14473" "0" "14473" "0" "c.14473C>T" "r.(?)" "p.(Arg4825Trp)" ""
"0000322788" "00023885" "50" "14257" "0" "14257" "0" "c.14257C>T" "r.(?)" "p.(Pro4753Ser)" ""
"0000322789" "00023885" "30" "14075" "8" "14075" "8" "c.14075+8C>T" "r.(=)" "p.(=)" ""
"0000322791" "00023885" "50" "13885" "0" "13885" "0" "c.13885A>C" "r.(?)" "p.(Thr4629Pro)" ""
"0000322793" "00023885" "30" "13433" "0" "13433" "0" "c.13433G>A" "r.(?)" "p.(Arg4478Gln)" ""
"0000322795" "00023885" "50" "12862" "0" "12862" "0" "c.12862C>T" "r.(?)" "p.(Arg4288Trp)" ""
"0000322797" "00023885" "50" "12634" "0" "12634" "0" "c.12634C>T" "r.(?)" "p.(Arg4212Trp)" ""
"0000322799" "00023885" "50" "11893" "0" "11893" "0" "c.11893C>T" "r.(?)" "p.(Gln3965Ter)" ""
"0000322802" "00023885" "50" "11141" "0" "11141" "0" "c.11141G>A" "r.(?)" "p.(Arg3714Lys)" ""
"0000322803" "00023885" "50" "11003" "0" "11003" "0" "c.11003C>A" "r.(?)" "p.(Pro3668His)" ""
"0000322804" "00023885" "50" "10827" "0" "10829" "0" "c.10827_10829del" "r.(?)" "p.(Gln3612del)" ""
"0000322806" "00023885" "50" "10472" "0" "10472" "0" "c.10472G>A" "r.(?)" "p.(Arg3491His)" ""
"0000322807" "00023885" "30" "10256" "0" "10256" "0" "c.10256A>G" "r.(?)" "p.(Asp3419Gly)" ""
"0000322808" "00023885" "30" "10229" "0" "10229" "0" "c.10229C>A" "r.(?)" "p.(Thr3410Lys)" ""
"0000322809" "00023885" "30" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" ""
"0000322810" "00023885" "30" "9485" "0" "9485" "0" "c.9485G>A" "r.(?)" "p.(Gly3162Asp)" ""
"0000322811" "00023885" "50" "9413" "0" "9413" "0" "c.9413C>T" "r.(?)" "p.(Thr3138Ile)" ""
"0000322815" "00023885" "50" "7454" "0" "7454" "0" "c.7454C>G" "r.(?)" "p.(Ala2485Gly)" ""
"0000322816" "00023885" "50" "7216" "0" "7216" "0" "c.7216G>A" "r.(?)" "p.(Asp2406Asn)" ""
"0000322817" "00023885" "50" "6998" "0" "6998" "0" "c.6998C>T" "r.(?)" "p.(Pro2333Leu)" ""
"0000322819" "00023885" "50" "6704" "0" "6704" "0" "c.6704G>A" "r.(?)" "p.(Arg2235Lys)" ""
"0000322820" "00023885" "50" "6683" "0" "6683" "0" "c.6683C>T" "r.(?)" "p.(Thr2228Ile)" ""
"0000322823" "00023885" "50" "4030" "0" "4030" "0" "c.4030A>G" "r.(?)" "p.(Ile1344Val)" ""
"0000322824" "00023885" "30" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" ""
"0000322825" "00023885" "30" "2798" "-7" "2798" "-7" "c.2798-7del" "r.(=)" "p.(=)" ""
"0000322826" "00023885" "50" "2481" "0" "2481" "0" "c.2481A>C" "r.(?)" "p.(Gln827His)" ""
"0000322827" "00023885" "30" "2283" "0" "2309" "0" "c.2283_2309del" "r.(?)" "p.(Ala765_Gln773del)" ""
"0000322828" "00023885" "50" "2222" "0" "2222" "0" "c.2222C>T" "r.(?)" "p.(Pro741Leu)" ""
"0000322829" "00023885" "30" "2074" "0" "2074" "0" "c.2074C>A" "r.(?)" "p.(Pro692Thr)" ""
"0000322830" "00023885" "50" "2056" "0" "2056" "0" "c.2056G>A" "r.(?)" "p.(Ala686Thr)" ""
"0000322831" "00023885" "50" "1930" "0" "1930" "0" "c.1930A>C" "r.(?)" "p.(Met644Leu)" ""
"0000322832" "00023885" "30" "1378" "0" "1378" "0" "c.1378C>A" "r.(?)" "p.(Pro460Thr)" ""
"0000322833" "00023885" "30" "1115" "0" "1115" "0" "c.1115T>A" "r.(?)" "p.(Phe372Tyr)" ""
"0000322834" "00023885" "30" "1042" "0" "1042" "0" "c.1042C>T" "r.(?)" "p.(Arg348Cys)" ""
"0000322835" "00023885" "30" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ser337Leu)" ""
"0000338329" "00023885" "90" "4742" "-5" "4742" "-5" "c.4742-5T>G" "r.spl?" "p.?" ""
"0000338330" "00023885" "90" "4741" "1" "4741" "1" "c.4741+1G>C" "r.spl?" "p.?" ""
"0000339018" "00023885" "90" "8059" "0" "8059" "0" "c.8059C>T" "r.(?)" "p.(Arg2687Ter)" ""
"0000341355" "00023885" "50" "9005" "0" "9005" "0" "c.9005C>A" "r.(?)" "p.(Ala3002Asp)" ""
"0000342377" "00023885" "90" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410Ter)" ""
"0000342712" "00023885" "50" "10615" "0" "10615" "0" "c.10615C>G" "r.(?)" "p.(Arg3539Gly)" ""
"0000342753" "00023885" "90" "11119" "0" "11119" "0" "c.11119C>T" "r.(?)" "p.(Arg3707Ter)" ""
"0000342996" "00023885" "30" "14711" "0" "14711" "0" "c.14711G>A" "r.(?)" "p.(Arg4904Gln)" ""
"0000342997" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904Ter)" ""
"0000343029" "00023885" "90" "15142" "0" "15142" "0" "c.15142C>T" "r.(?)" "p.(Arg5048Cys)" ""
"0000343051" "00023885" "90" "15641" "0" "15641" "0" "c.15641G>A" "r.(?)" "p.(Arg5214His)" ""
"0000343079" "00023885" "90" "16294" "0" "16294" "0" "c.16294C>T" "r.(?)" "p.(Arg5432Trp)" ""
"0000343412" "00023885" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" ""
"0000343983" "00023885" "50" "6026" "0" "6026" "0" "c.6026A>G" "r.(?)" "p.(Asp2009Gly)" ""
"0000344810" "00023885" "90" "11707" "0" "11707" "0" "c.11707C>T" "r.(?)" "p.(Gln3903Ter)" ""
"0000345476" "00023885" "90" "16273" "0" "16273" "0" "c.16273G>A" "r.(?)" "p.(Glu5425Lys)" ""
"0000347146" "00023885" "50" "12055" "0" "12055" "0" "c.12055C>T" "r.(?)" "p.(Leu4019Phe)" ""
"0000347212" "00023885" "10" "15978" "0" "15978" "0" "c.15978T>G" "r.(?)" "p.(Leu5326=)" ""
"0000348320" "00023885" "10" "7670" "0" "7670" "0" "c.7670C>T" "r.(?)" "p.(Pro2557Leu)" ""
"0000348399" "00023885" "10" "10671" "0" "10671" "0" "c.10671A>G" "r.(?)" "p.(Pro3557=)" ""
"0000348416" "00023885" "10" "11380" "0" "11380" "0" "c.11380C>T" "r.(?)" "p.(Pro3794Ser)" ""
"0000348458" "00023885" "10" "13689" "0" "13689" "0" "c.13689C>T" "r.(?)" "p.(Pro4563=)" ""
"0000348985" "00023885" "10" "12028" "0" "12028" "0" "c.12028T>C" "r.(?)" "p.(Ser4010Pro)" ""
"0000349925" "00023885" "90" "4485" "0" "4485" "0" "c.4485C>A" "r.(?)" "p.(Tyr1495Ter)" ""
"0000349926" "00023885" "90" "4485" "0" "4485" "0" "c.4485C>G" "r.(?)" "p.(Tyr1495Ter)" ""
"0000349984" "00023885" "90" "6588" "0" "6588" "0" "c.6588T>A" "r.(?)" "p.(Tyr2196Ter)" ""
"0000351251" "00023885" "90" "14383" "-6" "14383" "-6" "c.14383-6T>A" "r.(=)" "p.(=)" ""
"0000351253" "00023885" "10" "7144" "0" "7144" "0" "c.7144C>T" "r.(?)" "p.(Pro2382Ser)" ""
"0000351254" "00023885" "10" "5467" "19" "5467" "19" "c.5467+19A>C" "r.(=)" "p.(=)" ""
"0000351255" "00023885" "70" "1258" "5" "1258" "5" "c.1258+5G>A" "r.spl?" "p.?" ""
"0000394439" "00023885" "70" "511" "-1" "511" "-1" "c.511-1G>A" "r.spl" "p.?" "4i"
"0000408751" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" "31"
"0000408769" "00023885" "90" "1530" "0" "1530" "0" "c.1530del" "r.(?)" "p.(Pro511Leufs*419)" "10"
"0000408775" "00023885" "90" "9961" "0" "9961" "0" "c.9961C>T" "r.(?)" "p.(Arg3321*)" "34"
"0000438221" "00023885" "70" "6040" "0" "6040" "0" "c.6040C>T" "r.(?)" "p.(Gln2014*)" "28"
"0000439021" "00023885" "90" "16342" "0" "16342" "0" "c.16342C>T" "r.(16342c>u)" "p.(Arg5448*)" ""
"0000439022" "00023885" "90" "16342" "0" "16342" "0" "c.16342C>T" "r.(16342c>u)" "p.(Arg5448*)" ""
"0000439023" "00023885" "90" "7479" "0" "7479" "0" "c.7479del" "r.(7479del)" "p.(Phe2494Serfs*49)" ""
"0000439024" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(4135_4136del)" "p.(Met1379Valfs*52)" ""
"0000439025" "00023885" "70" "15103" "0" "15103" "0" "c.15103T>C" "r.(15103u>c)" "p.(Cys5035Arg)" ""
"0000458844" "00023885" "50" "658" "0" "658" "0" "c.658G>A" "r.(?)" "p.(Gly220Arg)" ""
"0000458845" "00023885" "00" "10045" "0" "10045" "0" "c.10045A>G" "r.(?)" "p.(Met3349Val)" ""
"0000548250" "00023885" "30" "16599" "0" "16599" "0" "c.16599G>A" "r.(?)" "p.(Arg5533=)" ""
"0000548251" "00023885" "90" "16438" "0" "16441" "0" "c.16438_16441del" "r.(?)" "p.(Asn5480ValfsTer6)" ""
"0000548252" "00023885" "90" "16019" "0" "16019" "0" "c.16019G>A" "r.(?)" "p.(Arg5340Gln)" ""
"0000548253" "00023885" "30" "15767" "0" "15767" "0" "c.15767C>G" "r.(?)" "p.(Thr5256Ser)" ""
"0000548255" "00023885" "90" "15640" "0" "15640" "0" "c.15640C>T" "r.(?)" "p.(Arg5214Cys)" ""
"0000548256" "00023885" "30" "15639" "0" "15639" "0" "c.15639G>A" "r.(?)" "p.(Thr5213=)" ""
"0000548257" "00023885" "30" "15004" "0" "15004" "0" "c.15004C>T" "r.(?)" "p.(Arg5002Trp)" ""
"0000548259" "00023885" "30" "14753" "0" "14753" "0" "c.14753dup" "r.(?)" "p.(Ser4919PhefsTer13)" ""
"0000548260" "00023885" "50" "14496" "0" "14496" "0" "c.14496G>T" "r.(?)" "p.(Lys4832Asn)" ""
"0000548261" "00023885" "70" "14382" "5" "14382" "5" "c.14382+5G>A" "r.spl?" "p.?" ""
"0000548262" "00023885" "30" "14202" "0" "14202" "0" "c.14202C>T" "r.(?)" "p.(Asp4734=)" ""
"0000548263" "00023885" "30" "14197" "0" "14197" "0" "c.14197G>A" "r.(?)" "p.(Glu4733Lys)" ""
"0000548264" "00023885" "50" "14161" "0" "14161" "0" "c.14161C>T" "r.(?)" "p.(Arg4721Cys)" ""
"0000548266" "00023885" "30" "13045" "0" "13045" "0" "c.13045C>G" "r.(?)" "p.(Pro4349Ala)" ""
"0000548267" "00023885" "30" "12862" "0" "12862" "0" "c.12862C>T" "r.(?)" "p.(Arg4288Trp)" ""
"0000548268" "00023885" "50" "12848" "0" "12848" "0" "c.12848C>T" "r.(?)" "p.(Pro4283Leu)" ""
"0000548269" "00023885" "30" "12682" "0" "12682" "0" "c.12682C>G" "r.(?)" "p.(Gln4228Glu)" ""
"0000548270" "00023885" "50" "12682" "0" "12682" "0" "c.12682C>G" "r.(?)" "p.(Gln4228Glu)" ""
"0000548271" "00023885" "50" "12662" "0" "12664" "0" "c.12662_12664dup" "r.(?)" "p.(Gln4221dup)" ""
"0000548272" "00023885" "50" "12638" "0" "12638" "0" "c.12638A>G" "r.(?)" "p.(His4213Arg)" ""
"0000548273" "00023885" "50" "12545" "0" "12545" "0" "c.12545G>T" "r.(?)" "p.(Gly4182Val)" ""
"0000548274" "00023885" "30" "12190" "0" "12190" "0" "c.12190G>A" "r.(?)" "p.(Glu4064Lys)" ""
"0000548275" "00023885" "30" "12084" "0" "12084" "0" "c.12084C>T" "r.(?)" "p.(Thr4028=)" ""
"0000548276" "00023885" "30" "12028" "0" "12028" "0" "c.12028T>C" "r.(?)" "p.(Ser4010Pro)" ""
"0000548277" "00023885" "90" "11944" "0" "11944" "0" "c.11944C>T" "r.(?)" "p.(Arg3982Ter)" ""
"0000548280" "00023885" "30" "11750" "0" "11758" "0" "c.11750_11758del" "r.(?)" "p.(Gln3917_Gln3919del)" ""
"0000548282" "00023885" "50" "11711" "0" "11716" "0" "c.11711_11716dup" "r.(?)" "p.(Gln3904_Gln3905dup)" ""
"0000548283" "00023885" "30" "11610" "0" "11610" "0" "c.11610G>A" "r.(?)" "p.(Met3870Ile)" ""
"0000548284" "00023885" "30" "11538" "0" "11538" "0" "c.11538C>T" "r.(?)" "p.(Gly3846=)" ""
"0000548285" "00023885" "30" "11220" "0" "11222" "0" "c.11220_11222dup" "r.(?)" "p.(Gln3745dup)" ""
"0000548286" "00023885" "30" "11220" "0" "11222" "0" "c.11220_11222dup" "r.(?)" "p.(Gln3745dup)" ""
"0000548287" "00023885" "30" "10993" "0" "10993" "0" "c.10993C>G" "r.(?)" "p.(Pro3665Ala)" ""
"0000548288" "00023885" "50" "10876" "0" "10876" "0" "c.10876C>T" "r.(?)" "p.(Arg3626Trp)" ""
"0000548291" "00023885" "30" "10812" "0" "10832" "0" "c.10812_10832dup" "r.(?)" "p.(Gln3606_Gln3612dup)" ""
"0000548292" "00023885" "50" "10812" "0" "10832" "0" "c.10812_10832dup" "r.(?)" "p.(Gln3606_Gln3612dup)" ""
"0000548293" "00023885" "30" "10812" "0" "10832" "0" "c.10812_10832dup" "r.(?)" "p.(Gln3606_Gln3612dup)" ""
"0000548294" "00023885" "50" "10766" "0" "10766" "0" "c.10766C>G" "r.(?)" "p.(Thr3589Ser)" ""
"0000548297" "00023885" "30" "10441" "-9" "10441" "-9" "c.10441-9T>A" "r.(=)" "p.(=)" ""
"0000548298" "00023885" "30" "10256" "0" "10256" "0" "c.10256A>G" "r.(?)" "p.(Asp3419Gly)" ""
"0000548299" "00023885" "30" "10256" "0" "10256" "0" "c.10256A>G" "r.(?)" "p.(Asp3419Gly)" ""
"0000548300" "00023885" "30" "10241" "0" "10241" "0" "c.10241A>G" "r.(?)" "p.(Lys3414Arg)" ""
"0000548301" "00023885" "30" "10233" "0" "10233" "0" "c.10233C>T" "r.(?)" "p.(Asp3411=)" ""
"0000548302" "00023885" "30" "10228" "0" "10228" "0" "c.10228A>G" "r.(?)" "p.(Thr3410Ala)" ""
"0000548303" "00023885" "50" "10214" "0" "10214" "0" "c.10214G>C" "r.(?)" "p.(Ser3405Thr)" ""
"0000548304" "00023885" "30" "10150" "0" "10150" "0" "c.10150A>T" "r.(?)" "p.(Thr3384Ser)" ""
"0000548305" "00023885" "30" "9501" "0" "9501" "0" "c.9501G>A" "r.(?)" "p.(Arg3167=)" ""
"0000548306" "00023885" "50" "9396" "0" "9396" "0" "c.9396C>G" "r.(?)" "p.(Cys3132Trp)" ""
"0000548307" "00023885" "30" "9034" "0" "9034" "0" "c.9034C>T" "r.(?)" "p.(Leu3012=)" ""
"0000548308" "00023885" "30" "8866" "0" "8866" "0" "c.8866A>G" "r.(?)" "p.(Thr2956Ala)" ""
"0000548309" "00023885" "30" "8627" "0" "8627" "0" "c.8627A>C" "r.(?)" "p.(Gln2876Pro)" ""
"0000548311" "00023885" "90" "8488" "0" "8488" "0" "c.8488C>T" "r.(?)" "p.(Arg2830Ter)" ""
"0000548312" "00023885" "30" "8068" "0" "8068" "0" "c.8068C>T" "r.(?)" "p.(Leu2690=)" ""
"0000548313" "00023885" "30" "8068" "0" "8068" "0" "c.8068C>T" "r.(?)" "p.(Leu2690=)" ""
"0000548315" "00023885" "30" "7904" "0" "7904" "0" "c.7904G>A" "r.(?)" "p.(Arg2635Gln)" ""
"0000548316" "00023885" "30" "7904" "0" "7904" "0" "c.7904G>A" "r.(?)" "p.(Arg2635Gln)" ""
"0000548317" "00023885" "50" "7648" "0" "7648" "0" "c.7648C>T" "r.(?)" "p.(Pro2550Ser)" ""
"0000548319" "00023885" "30" "7603" "0" "7603" "0" "c.7603C>T" "r.(?)" "p.(Arg2535Cys)" ""
"0000548320" "00023885" "30" "7550" "0" "7550" "0" "c.7550A>G" "r.(?)" "p.(Asn2517Ser)" ""
"0000548321" "00023885" "50" "7519" "0" "7519" "0" "c.7519C>A" "r.(?)" "p.(His2507Asn)" ""
"0000548322" "00023885" "50" "7519" "0" "7519" "0" "c.7519C>A" "r.(?)" "p.(His2507Asn)" ""
"0000548323" "00023885" "30" "7499" "0" "7499" "0" "c.7499C>G" "r.(?)" "p.(Ala2500Gly)" ""
"0000548324" "00023885" "50" "7355" "0" "7355" "0" "c.7355G>C" "r.(?)" "p.(Arg2452Pro)" ""
"0000548325" "00023885" "30" "7198" "0" "7198" "0" "c.7198C>G" "r.(?)" "p.(Pro2400Ala)" ""
"0000548326" "00023885" "10" "7144" "0" "7144" "0" "c.7144C>T" "r.(?)" "p.(Pro2382Ser)" ""
"0000548329" "00023885" "30" "6811" "0" "6811" "0" "c.6811C>T" "r.(?)" "p.(Pro2271Ser)" ""
"0000548330" "00023885" "50" "6811" "0" "6811" "0" "c.6811C>T" "r.(?)" "p.(Pro2271Ser)" ""
"0000548331" "00023885" "30" "6811" "0" "6811" "0" "c.6811C>T" "r.(?)" "p.(Pro2271Ser)" ""
"0000548332" "00023885" "10" "6811" "0" "6811" "0" "c.6811C>T" "r.(?)" "p.(Pro2271Ser)" ""
"0000548334" "00023885" "30" "6650" "0" "6650" "0" "c.6650G>A" "r.(?)" "p.(Arg2217His)" ""
"0000548335" "00023885" "30" "6497" "0" "6497" "0" "c.6497A>G" "r.(?)" "p.(Gln2166Arg)" ""
"0000548336" "00023885" "50" "6494" "0" "6494" "0" "c.6494C>T" "r.(?)" "p.(Pro2165Leu)" ""
"0000548337" "00023885" "50" "6470" "0" "6470" "0" "c.6470G>T" "r.(?)" "p.(Gly2157Val)" ""
"0000548338" "00023885" "30" "6470" "0" "6470" "0" "c.6470G>T" "r.(?)" "p.(Gly2157Val)" ""
"0000548339" "00023885" "30" "6464" "0" "6464" "0" "c.6464C>T" "r.(?)" "p.(Ser2155Leu)" ""
"0000548340" "00023885" "30" "6420" "0" "6420" "0" "c.6420C>T" "r.(?)" "p.(Asp2140=)" ""
"0000548341" "00023885" "30" "6393" "0" "6393" "0" "c.6393C>G" "r.(?)" "p.(Thr2131=)" ""
"0000548342" "00023885" "50" "6313" "0" "6313" "0" "c.6313C>T" "r.(?)" "p.(Arg2105Cys)" ""
"0000548343" "00023885" "90" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Gln2062Ter)" ""
"0000548344" "00023885" "30" "5821" "0" "5821" "0" "c.5821A>G" "r.(?)" "p.(Met1941Val)" ""
"0000548347" "00023885" "30" "5526" "0" "5526" "0" "c.5526T>C" "r.(?)" "p.(Asp1842=)" ""
"0000548349" "00023885" "50" "5422" "0" "5422" "0" "c.5422G>C" "r.(?)" "p.(Gly1808Arg)" ""
"0000548350" "00023885" "50" "5353" "0" "5353" "0" "c.5353A>G" "r.(?)" "p.(Ser1785Gly)" ""
"0000548352" "00023885" "30" "5189" "-4" "5189" "-4" "c.5189-4A>G" "r.spl?" "p.?" ""
"0000548353" "00023885" "10" "5016" "0" "5016" "0" "c.5016T>C" "r.(?)" "p.(Pro1672=)" ""
"0000548354" "00023885" "30" "4695" "0" "4695" "0" "c.4695G>A" "r.(?)" "p.(Ala1565=)" ""
"0000548355" "00023885" "30" "4694" "-4" "4694" "-4" "c.4694-4A>G" "r.spl?" "p.?" ""
"0000548356" "00023885" "70" "4564" "0" "4564" "0" "c.4564C>T" "r.(?)" "p.(Gln1522Ter)" ""
"0000548357" "00023885" "70" "4418" "4" "4418" "4" "c.4418+4A>G" "r.spl?" "p.?" ""
"0000548358" "00023885" "30" "4392" "0" "4392" "0" "c.4392C>A" "r.(?)" "p.(Val1464=)" ""
"0000548359" "00023885" "30" "4389" "0" "4389" "0" "c.4389C>T" "r.(?)" "p.(Thr1463=)" ""
"0000548360" "00023885" "70" "4139" "0" "4139" "0" "c.4139G>A" "r.(?)" "p.(Cys1380Tyr)" ""
"0000548361" "00023885" "30" "4020" "13" "4020" "13" "c.4020+13C>G" "r.(=)" "p.(=)" ""
"0000548362" "00023885" "50" "4004" "0" "4004" "0" "c.4004C>G" "r.(?)" "p.(Ser1335Cys)" ""
"0000548364" "00023885" "50" "3871" "0" "3871" "0" "c.3871C>T" "r.(?)" "p.(Arg1291Trp)" ""
"0000548365" "00023885" "50" "3770" "0" "3770" "0" "c.3770T>C" "r.(?)" "p.(Leu1257Pro)" ""
"0000548366" "00023885" "10" "3737" "0" "3737" "0" "c.3737C>T" "r.(?)" "p.(Thr1246Met)" ""
"0000548367" "00023885" "30" "3597" "0" "3597" "0" "c.3597C>T" "r.(?)" "p.(Leu1199=)" ""
"0000548368" "00023885" "30" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" ""
"0000548369" "00023885" "30" "3570" "0" "3570" "0" "c.3570A>G" "r.(?)" "p.(Ala1190=)" ""
"0000548370" "00023885" "30" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Leu1125=)" ""
"0000548371" "00023885" "30" "3213" "0" "3213" "0" "c.3213C>T" "r.(?)" "p.(His1071=)" ""
"0000548372" "00023885" "30" "3159" "0" "3159" "0" "c.3159C>T" "r.(?)" "p.(Ser1053=)" ""
"0000548373" "00023885" "30" "2992" "0" "2992" "0" "c.2992C>A" "r.(?)" "p.(Pro998Thr)" ""
"0000548374" "00023885" "50" "2911" "0" "2911" "0" "c.2911T>G" "r.(?)" "p.(Ser971Ala)" ""
"0000548375" "00023885" "10" "2798" "-7" "2798" "-7" "c.2798-7del" "r.(=)" "p.(=)" ""
"0000548376" "00023885" "30" "2748" "0" "2748" "0" "c.2748G>A" "r.(?)" "p.(Pro916=)" ""
"0000548377" "00023885" "30" "2533" "0" "2533" "0" "c.2533C>T" "r.(?)" "p.(Arg845Trp)" ""
"0000548378" "00023885" "30" "2438" "0" "2438" "0" "c.2438C>T" "r.(?)" "p.(Pro813Leu)" ""
"0000548380" "00023885" "30" "2250" "0" "2276" "0" "c.2250_2276del" "r.(?)" "p.(Arg755_Pro763del)" ""
"0000548381" "00023885" "10" "2250" "0" "2276" "0" "c.2250_2276del" "r.(?)" "p.(Arg755_Pro763del)" ""
"0000548382" "00023885" "10" "2156" "0" "2156" "0" "c.2156C>T" "r.(?)" "p.(Pro719Leu)" ""
"0000548384" "00023885" "30" "1965" "0" "1965" "0" "c.1965C>A" "r.(?)" "p.(Pro655=)" ""
"0000548385" "00023885" "30" "1940" "0" "1940" "0" "c.1940C>A" "r.(?)" "p.(Pro647Gln)" ""
"0000548387" "00023885" "30" "1725" "0" "1725" "0" "c.1725A>T" "r.(?)" "p.(Pro575=)" ""
"0000548389" "00023885" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Asp383=)" ""
"0000548390" "00023885" "50" "1040" "0" "1040" "0" "c.1040A>G" "r.(?)" "p.(His347Arg)" ""
"0000548391" "00023885" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Thr293=)" ""
"0000548392" "00023885" "90" "696" "0" "696" "0" "c.696dup" "r.(?)" "p.(Glu233Ter)" ""
"0000548393" "00023885" "30" "554" "0" "554" "0" "c.554G>A" "r.(?)" "p.(Arg185His)" ""
"0000548394" "00023885" "10" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" ""
"0000548395" "00023885" "30" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" ""
"0000548396" "00023885" "70" "207" "0" "207" "0" "c.207T>A" "r.(?)" "p.(Cys69Ter)" ""
"0000548397" "00023885" "30" "163" "0" "163" "0" "c.163C>T" "r.(?)" "p.(Pro55Ser)" ""
"0000614166" "00023885" "30" "16440" "0" "16440" "0" "c.16440C>T" "r.(?)" "p.(Asn5480=)" ""
"0000614167" "00023885" "90" "16411" "0" "16411" "0" "c.16411A>T" "r.(?)" "p.(Arg5471Trp)" ""
"0000614169" "00023885" "30" "15090" "0" "15090" "0" "c.15090T>G" "r.(?)" "p.(Arg5030=)" ""
"0000614170" "00023885" "30" "14997" "0" "14997" "0" "c.14997C>T" "r.(?)" "p.(Gly4999=)" ""
"0000614171" "00023885" "30" "14473" "0" "14473" "0" "c.14473C>T" "r.(?)" "p.(Arg4825Trp)" ""
"0000614172" "00023885" "50" "13856" "0" "13856" "0" "c.13856C>T" "r.(?)" "p.(Pro4619Leu)" ""
"0000614173" "00023885" "90" "12844" "0" "12844" "0" "c.12844C>T" "r.(?)" "p.(Arg4282Ter)" ""
"0000614174" "00023885" "30" "11955" "0" "11955" "0" "c.11955G>A" "r.(?)" "p.(Leu3985=)" ""
"0000614175" "00023885" "50" "11843" "0" "11860" "0" "c.11843_11860del" "r.(?)" "p.(Leu3948_Gln3953del)" ""
"0000614176" "00023885" "30" "11729" "0" "11734" "0" "c.11729_11734dup" "r.(?)" "p.(Gln3910_Gln3911dup)" ""
"0000614178" "00023885" "90" "9781" "0" "9782" "0" "c.9781_9782del" "r.(?)" "p.(Gln3261GlufsTer39)" ""
"0000614179" "00023885" "30" "9726" "0" "9726" "0" "c.9726C>T" "r.(?)" "p.(Ala3242=)" ""
"0000614181" "00023885" "30" "8774" "0" "8774" "0" "c.8774C>T" "r.(?)" "p.(Ala2925Val)" ""
"0000614182" "00023885" "90" "8727" "0" "8730" "0" "c.8727_8730del" "r.(?)" "p.(Ser2910ArgfsTer32)" ""
"0000614183" "00023885" "30" "7780" "0" "7780" "0" "c.7780C>T" "r.(?)" "p.(Leu2594=)" ""
"0000614184" "00023885" "30" "7629" "0" "7629" "0" "c.7629G>A" "r.(?)" "p.(Gly2543=)" ""
"0000614185" "00023885" "30" "7603" "0" "7603" "0" "c.7603C>T" "r.(?)" "p.(Arg2535Cys)" ""
"0000614186" "00023885" "30" "6733" "0" "6733" "0" "c.6733C>G" "r.(?)" "p.(Leu2245Val)" ""
"0000614187" "00023885" "30" "6573" "0" "6573" "0" "c.6573G>A" "r.(?)" "p.(Thr2191=)" ""
"0000614188" "00023885" "30" "6399" "0" "6399" "0" "c.6399C>T" "r.(?)" "p.(Ala2133=)" ""
"0000614189" "00023885" "50" "5111" "0" "5111" "0" "c.5111G>A" "r.(?)" "p.(Arg1704Gln)" ""
"0000614190" "00023885" "50" "4745" "0" "4745" "0" "c.4745C>G" "r.(?)" "p.(Pro1582Arg)" ""
"0000614191" "00023885" "50" "4637" "0" "4637" "0" "c.4637C>T" "r.(?)" "p.(Ala1546Val)" ""
"0000614192" "00023885" "30" "3373" "0" "3373" "0" "c.3373C>T" "r.(?)" "p.(Leu1125=)" ""
"0000614193" "00023885" "30" "2256" "0" "2282" "0" "c.2256_2282del" "r.(?)" "p.(Arg755_Pro763del)" ""
"0000614194" "00023885" "30" "1954" "0" "1954" "0" "c.1954C>T" "r.(?)" "p.(Arg652Cys)" ""
"0000614195" "00023885" "30" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Leu599=)" ""
"0000614196" "00023885" "30" "1010" "0" "1010" "0" "c.1010C>T" "r.(?)" "p.(Ser337Leu)" ""
"0000614197" "00023885" "50" "674" "-7" "674" "-7" "c.674-7C>A" "r.(=)" "p.(=)" ""
"0000614198" "00023885" "30" "507" "0" "507" "0" "c.507A>C" "r.(?)" "p.(Ser169=)" ""
"0000614199" "00023885" "90" "303" "0" "303" "0" "c.303dup" "r.(?)" "p.(Ser102GlufsTer6)" ""
"0000622901" "00023885" "30" "15784" "14" "15784" "14" "c.15784+14C>T" "r.(=)" "p.(=)" ""
"0000622902" "00023885" "30" "8901" "0" "8901" "0" "c.8901C>T" "r.(?)" "p.(Pro2967=)" ""
"0000622903" "00023885" "50" "8579" "0" "8579" "0" "c.8579G>A" "r.(?)" "p.(Arg2860His)" ""
"0000622904" "00023885" "30" "7129" "0" "7129" "0" "c.7129C>T" "r.(?)" "p.(Pro2377Ser)" ""
"0000622905" "00023885" "30" "4742" "-11" "4742" "-11" "c.4742-11dup" "r.(=)" "p.(=)" ""
"0000622907" "00023885" "30" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Pro1131Leu)" ""
"0000622908" "00023885" "30" "2958" "0" "2958" "0" "c.2958A>G" "r.(?)" "p.(Pro986=)" ""
"0000622909" "00023885" "30" "2236" "0" "2236" "0" "c.2236C>T" "r.(?)" "p.(Arg746Trp)" ""
"0000622910" "00023885" "50" "1190" "0" "1190" "0" "c.1190A>C" "r.(?)" "p.(Lys397Thr)" ""
"0000631936" "00023885" "90" "2877" "0" "2877" "0" "c.2877C>G" "r.(?)" "p.(Tyr959*)" ""
"0000647204" "00023885" "50" "12229" "0" "12229" "0" "c.12229C>T" "r.(?)" "p.(Leu4077Phe)" ""
"0000647209" "00023885" "90" "14000" "0" "14000" "0" "c.14000del" "r.(?)" "p.(Asp4667Valfs*5)" ""
"0000648574" "00023885" "50" "16489" "0" "16491" "0" "c.16489_16491del" "r.(?)" "p.(Ile5497del)" ""
"0000648575" "00023885" "90" "13518" "0" "13518" "0" "c.13518del" "r.(?)" "p.(Ser4507Alafs*12)" ""
"0000648576" "00023885" "90" "12406" "0" "12406" "0" "c.12406C>T" "r.(?)" "p.(Gln4136*)" ""
"0000648577" "00023885" "30" "12028" "0" "12028" "0" "c.12028T>C" "r.(?)" "p.(Ser4010Pro)" ""
"0000648578" "00023885" "70" "11395" "0" "11395" "0" "c.11395C>T" "r.(?)" "p.(Gln3799*)" ""
"0000648579" "00023885" "90" "7375" "0" "7376" "0" "c.7375_7376del" "r.(?)" "p.(Ser2459Profs*2)" ""
"0000648580" "00023885" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(=)" "p.(=)" ""
"0000648581" "00023885" "90" "4009" "0" "4009" "0" "c.4009G>T" "r.(?)" "p.(Glu1337*)" ""
"0000648582" "00023885" "90" "3834" "0" "3846" "0" "c.3834_3846del" "r.(?)" "p.(Ile1279Lysfs*47)" ""
"0000648583" "00023885" "70" "1329" "0" "1332" "0" "c.1329_1332del" "r.(?)" "p.(Pro444Argfs*485)" ""
"0000648584" "00023885" "30" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" ""
"0000653114" "00023885" "30" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" ""
"0000653516" "00023885" "70" "4981" "0" "4981" "0" "c.4981del" "r.(?)" "p.(Glu1661Serfs*61)" "20"
"0000657098" "00023885" "30" "16521" "7" "16521" "7" "c.16521+7G>A" "r.(=)" "p.(=)" ""
"0000657099" "00023885" "70" "16439" "0" "16439" "0" "c.16439A>T" "r.(?)" "p.(Asn5480Ile)" ""
"0000657100" "00023885" "50" "13618" "0" "13618" "0" "c.13618C>T" "r.(?)" "p.(Arg4540Trp)" ""
"0000657101" "00023885" "30" "12913" "0" "12913" "0" "c.12913G>A" "r.(?)" "p.(Val4305Ile)" ""
"0000657102" "00023885" "50" "12673" "0" "12673" "0" "c.12673C>G" "r.(?)" "p.(Leu4225Val)" ""
"0000657103" "00023885" "90" "12592" "0" "12592" "0" "c.12592C>T" "r.(?)" "p.(Arg4198Ter)" ""
"0000657104" "00023885" "30" "10143" "0" "10143" "0" "c.10143C>A" "r.(?)" "p.(Pro3381=)" ""
"0000657105" "00023885" "50" "8431" "0" "8431" "0" "c.8431C>A" "r.(?)" "p.(Gln2811Lys)" ""
"0000657106" "00023885" "50" "8402" "0" "8402" "0" "c.8402G>A" "r.(?)" "p.(Arg2801Gln)" ""
"0000657107" "00023885" "30" "6594" "0" "6594" "0" "c.6594C>T" "r.(?)" "p.(Pro2198=)" ""
"0000657108" "00023885" "30" "6437" "0" "6437" "0" "c.6437C>T" "r.(?)" "p.(Pro2146Leu)" ""
"0000657109" "00023885" "30" "6354" "0" "6354" "0" "c.6354C>T" "r.(?)" "p.(Pro2118=)" ""
"0000657110" "00023885" "90" "2479" "0" "2479" "0" "c.2479C>T" "r.(?)" "p.(Gln827Ter)" ""
"0000657111" "00023885" "30" "2477" "0" "2477" "0" "c.2477C>A" "r.(?)" "p.(Pro826His)" ""
"0000657112" "00023885" "10" "2232" "0" "2258" "0" "c.2232_2258del" "r.(?)" "p.(Arg755_Pro763del)" ""
"0000657114" "00023885" "30" "1568" "0" "1568" "0" "c.1568C>T" "r.(?)" "p.(Pro523Leu)" ""
"0000657115" "00023885" "30" "1155" "0" "1155" "0" "c.1155C>T" "r.(?)" "p.(Pro385=)" ""
"0000657116" "00023885" "30" "1120" "0" "1120" "0" "c.1120C>A" "r.(?)" "p.(Pro374Thr)" ""
"0000657117" "00023885" "30" "711" "0" "711" "0" "c.711G>A" "r.(?)" "p.(Glu237=)" ""
"0000665336" "00023885" "70" "16442" "0" "16442" "0" "c.16442G>A" "r.(?)" "p.(Cys5481Tyr)" ""
"0000667601" "00023885" "70" "3918" "0" "3928" "0" "c.3918_3928dup" "r.(?)" "p.(Gly1310Alafs*24)" ""
"0000669177" "00023885" "30" "12028" "0" "12028" "0" "c.12028T>C" "r.(?)" "p.(Ser4010Pro)" ""
"0000669178" "00023885" "90" "4009" "0" "4009" "0" "c.4009G>T" "r.(?)" "p.(Glu1337*)" ""
"0000669179" "00023885" "30" "248" "0" "248" "0" "c.248G>A" "r.(?)" "p.(Arg83Gln)" ""
"0000673613" "00023885" "70" "11429" "0" "11429" "0" "c.11429T>A" "r.(?)" "p.(Leu3810*)" ""
"0000673969" "00023885" "70" "14382" "0" "14382" "0" "c.14382G>A" "r.(=)" "p.(=)" ""
"0000673992" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" ""
"0000673994" "00023885" "90" "5531" "0" "5531" "0" "c.5531del" "r.(?)" "p.(Pro1844Glnfs*8)" ""
"0000675201" "00023885" "70" "10232" "-1" "10232" "-1" "c.10232-1G>A" "r.spl?" "p.?" ""
"0000675221" "00023885" "70" "7162" "0" "7162" "0" "c.7162C>T" "r.(?)" "p.(Gln2388*)" ""
"0000679539" "00023885" "50" "16015" "0" "16015" "0" "c.16015G>T" "r.(?)" "p.(Ala5339Ser)" ""
"0000679540" "00023885" "50" "15209" "0" "15209" "0" "c.15209A>G" "r.(?)" "p.(Tyr5070Cys)" ""
"0000679542" "00023885" "30" "12913" "0" "12913" "0" "c.12913G>A" "r.(?)" "p.(Val4305Ile)" ""
"0000679543" "00023885" "50" "12824" "0" "12824" "0" "c.12824A>G" "r.(?)" "p.(Gln4275Arg)" ""
"0000679544" "00023885" "30" "12656" "0" "12656" "0" "c.12656A>C" "r.(?)" "p.(Gln4219Pro)" ""
"0000679545" "00023885" "50" "11862" "0" "11879" "0" "c.11862_11879del" "r.(?)" "p.(Leu3955_Gln3960del)" ""
"0000679546" "00023885" "30" "11815" "0" "11815" "0" "c.11815C>G" "r.(?)" "p.(Gln3939Glu)" ""
"0000679547" "00023885" "50" "11714" "0" "11716" "0" "c.11714_11716dup" "r.(?)" "p.(Gln3905dup)" ""
"0000679548" "00023885" "30" "9454" "0" "9454" "0" "c.9454C>T" "r.(?)" "p.(Leu3152=)" ""
"0000679549" "00023885" "70" "8367" "-2" "8367" "-2" "c.8367-2A>G" "r.spl?" "p.?" ""
"0000679550" "00023885" "30" "8260" "0" "8260" "0" "c.8260A>G" "r.(?)" "p.(Ser2754Gly)" ""
"0000679551" "00023885" "30" "7839" "0" "7839" "0" "c.7839G>A" "r.(?)" "p.(Pro2613=)" ""
"0000679552" "00023885" "30" "6629" "0" "6629" "0" "c.6629C>T" "r.(?)" "p.(Pro2210Leu)" ""
"0000679553" "00023885" "90" "4030" "0" "4030" "0" "c.4030del" "r.(?)" "p.(Ile1344LeufsTer32)" ""
"0000679555" "00023885" "30" "1143" "0" "1143" "0" "c.1143C>T" "r.(?)" "p.(Pro381=)" ""
"0000679556" "00023885" "50" "206" "0" "206" "0" "c.206G>C" "r.(?)" "p.(Cys69Ser)" ""
"0000682736" "00023885" "70" "11044" "0" "11044" "0" "c.11044C>T" "r.(?)" "p.(Gln3682*)" ""
"0000682737" "00023885" "70" "4963" "1" "4963" "1" "c.4963+1G>A" "r.spl?" "p.?" ""
"0000682738" "00023885" "70" "8159" "0" "8159" "0" "c.8159G>A" "r.(?)" "p.(Trp2720*)" ""
"0000682773" "00023885" "70" "7162" "0" "7162" "0" "c.7162C>T" "r.(?)" "p.(Gln2388*)" ""
"0000683327" "00023885" "70" "16157" "0" "16157" "0" "c.16157dup" "r.(?)" "p.(Gln5387Serfs*72)" ""
"0000691343" "00023885" "30" "14893" "0" "14893" "0" "c.14893G>A" "r.(?)" "p.(Ala4965Thr)" ""
"0000691344" "00023885" "30" "13059" "0" "13059" "0" "c.13059G>A" "r.(?)" "p.(Pro4353=)" ""
"0000691345" "00023885" "50" "11762" "0" "11762" "0" "c.11762A>T" "r.(?)" "p.(Gln3921Leu)" ""
"0000691346" "00023885" "50" "11760" "0" "11760" "0" "c.11760A>G" "r.(?)" "p.(Leu3920=)" ""
"0000691347" "00023885" "50" "11759" "0" "11759" "0" "c.11759T>A" "r.(?)" "p.(Leu3920Gln)" ""
"0000691348" "00023885" "50" "10033" "0" "10033" "0" "c.10033C>T" "r.(?)" "p.(Pro3345Ser)" ""
"0000691349" "00023885" "30" "6639" "0" "6639" "0" "c.6639C>T" "r.(?)" "p.(Gly2213=)" ""
"0000691350" "00023885" "30" "6555" "0" "6555" "0" "c.6555G>A" "r.(?)" "p.(Leu2185=)" ""
"0000691351" "00023885" "50" "5864" "0" "5864" "0" "c.5864C>T" "r.(?)" "p.(Ser1955Phe)" ""
"0000691352" "00023885" "30" "5462" "0" "5462" "0" "c.5462A>G" "r.(?)" "p.(Gln1821Arg)" ""
"0000691353" "00023885" "50" "5349" "0" "5349" "0" "c.5349C>A" "r.(?)" "p.(Asp1783Glu)" ""
"0000691354" "00023885" "50" "4552" "0" "4552" "0" "c.4552G>A" "r.(?)" "p.(Asp1518Asn)" ""
"0000691355" "00023885" "30" "3936" "0" "3936" "0" "c.3936C>T" "r.(?)" "p.(Arg1312=)" ""
"0000691356" "00023885" "30" "2232" "0" "2258" "0" "c.2232_2258del" "r.(?)" "p.(Arg755_Pro763del)" ""
"0000694250" "00023885" "90" "12946" "0" "12946" "0" "c.12946G>T" "r.(?)" "p.(Glu4316*)" ""
"0000694251" "00023885" "70" "4271" "0" "4271" "0" "c.4271G>C" "r.(?)" "p.(Cys1424Ser)" ""
"0000694252" "00023885" "90" "3067" "0" "3067" "0" "c.3067C>T" "r.(?)" "p.(Gln1023*)" ""
"0000694287" "00023885" "30" "15845" "0" "15845" "0" "c.15845G>A" "r.(?)" "p.(Arg5282Gln)" ""
"0000694288" "00023885" "30" "15314" "0" "15314" "0" "c.15314A>G" "r.(?)" "p.(Asn5105Ser)" ""
"0000694289" "00023885" "30" "14836" "0" "14836" "0" "c.14836G>A" "r.(?)" "p.(Val4946Ile)" ""
"0000694290" "00023885" "30" "13627" "0" "13627" "0" "c.13627G>T" "r.(?)" "p.(Asp4543Tyr)" ""
"0000694291" "00023885" "30" "12524" "0" "12524" "0" "c.12524C>A" "r.(?)" "p.(Pro4175Gln)" ""
"0000694292" "00023885" "30" "12524" "0" "12524" "0" "c.12524C>A" "r.(?)" "p.(Pro4175Gln)" ""
"0000694293" "00023885" "30" "12484" "0" "12484" "0" "c.12484C>T" "r.(?)" "p.(Arg4162Trp)" ""
"0000694294" "00023885" "50" "12406" "0" "12406" "0" "c.12406C>G" "r.(?)" "p.(Gln4136Glu)" ""
"0000694295" "00023885" "30" "11750" "0" "11758" "0" "c.11750_11758del" "r.(?)" "p.(Gln3917_Gln3919del)" ""
"0000694296" "00023885" "30" "11220" "0" "11222" "0" "c.11220_11222dup" "r.(?)" "p.(Gln3745dup)" ""
"0000694297" "00023885" "30" "10993" "0" "10993" "0" "c.10993C>G" "r.(?)" "p.(Pro3665Ala)" ""
"0000694298" "00023885" "30" "10993" "0" "10993" "0" "c.10993C>G" "r.(?)" "p.(Pro3665Ala)" ""
"0000694299" "00023885" "30" "10312" "0" "10312" "0" "c.10312G>A" "r.(?)" "p.(Val3438Met)" ""
"0000694300" "00023885" "50" "10055" "0" "10055" "0" "c.10055A>G" "r.(?)" "p.(Asn3352Ser)" ""
"0000694301" "00023885" "30" "9329" "0" "9329" "0" "c.9329G>C" "r.(?)" "p.(Arg3110Pro)" ""
"0000694302" "00023885" "30" "7795" "0" "7795" "0" "c.7795G>A" "r.(?)" "p.(Gly2599Arg)" ""
"0000694303" "00023885" "30" "7475" "0" "7475" "0" "c.7475G>A" "r.(?)" "p.(Gly2492Glu)" ""
"0000694304" "00023885" "30" "7354" "0" "7354" "0" "c.7354C>T" "r.(?)" "p.(Arg2452Cys)" ""
"0000694305" "00023885" "30" "7198" "0" "7198" "0" "c.7198C>G" "r.(?)" "p.(Pro2400Ala)" ""
"0000694306" "00023885" "50" "6821" "0" "6821" "0" "c.6821C>T" "r.(?)" "p.(Ser2274Leu)" ""
"0000694307" "00023885" "30" "6437" "0" "6437" "0" "c.6437C>T" "r.(?)" "p.(Pro2146Leu)" ""
"0000694308" "00023885" "50" "5980" "0" "5980" "0" "c.5980G>A" "r.(?)" "p.(Asp1994Asn)" ""
"0000694309" "00023885" "30" "5908" "0" "5908" "0" "c.5908G>A" "r.(?)" "p.(Asp1970Asn)" ""
"0000694310" "00023885" "30" "4865" "0" "4865" "0" "c.4865G>C" "r.(?)" "p.(Gly1622Ala)" ""
"0000694311" "00023885" "30" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" ""
"0000694312" "00023885" "50" "3133" "0" "3135" "0" "c.3133_3135del" "r.(?)" "p.(Pro1045del)" ""
"0000694313" "00023885" "50" "3070" "0" "3070" "0" "c.3070T>C" "r.(?)" "p.(Cys1024Arg)" ""
"0000694314" "00023885" "30" "2992" "0" "2992" "0" "c.2992C>A" "r.(?)" "p.(Pro998Thr)" ""
"0000694315" "00023885" "30" "2992" "0" "2992" "0" "c.2992C>A" "r.(?)" "p.(Pro998Thr)" ""
"0000694316" "00023885" "30" "2868" "0" "2868" "0" "c.2868G>C" "r.(?)" "p.(Glu956Asp)" ""
"0000694317" "00023885" "30" "2449" "0" "2449" "0" "c.2449C>G" "r.(?)" "p.(Pro817Ala)" ""
"0000694318" "00023885" "10" "2074" "0" "2074" "0" "c.2074C>A" "r.(?)" "p.(Pro692Thr)" ""
"0000694319" "00023885" "30" "1888" "0" "1888" "0" "c.1888C>T" "r.(?)" "p.(Pro630Ser)" ""
"0000694320" "00023885" "50" "1747" "0" "1747" "0" "c.1747C>G" "r.(?)" "p.(Pro583Ala)" ""
"0000694321" "00023885" "50" "1667" "0" "1667" "0" "c.1667C>T" "r.(?)" "p.(Pro556Leu)" ""
"0000694322" "00023885" "30" "1490" "0" "1490" "0" "c.1490C>T" "r.(?)" "p.(Pro497Leu)" ""
"0000694323" "00023885" "30" "1277" "0" "1277" "0" "c.1277T>C" "r.(?)" "p.(Leu426Pro)" ""
"0000694324" "00023885" "30" "812" "0" "812" "0" "c.812C>G" "r.(?)" "p.(Pro271Arg)" ""
"0000698207" "00023885" "70" "10621" "0" "10621" "0" "c.10621G>C" "r.(?)" "p.(Ala3541Pro)" ""
"0000698293" "00023885" "50" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Cys)" "10"
"0000698294" "00023885" "90" "1914" "0" "1914" "0" "c.1914del" "r.(?)" "p.(Pro639Leufs* 291)" "10"
"0000698295" "00023885" "50" "3193" "0" "3193" "0" "c.3193T>A" "r.(?)" "p.(Ser1065Thr)" "11"
"0000698296" "00023885" "90" "3532" "0" "3532" "0" "c.3532C>T" "r.(?)" "p.(Gln1178* )" "11"
"0000698297" "00023885" "90" "4132" "-2" "4132" "-2" "c.4132-2A>G" "r.spl" "p.?" "13i"
"0000698298" "00023885" "90" "4135" "0" "4136" "0" "c.4135_4136del" "r.(?)" "p.(Met1379Valfs* 52)" "14"
"0000698299" "00023885" "90" "5269" "0" "5269" "0" "c.5269C>T" "r.(?)" "p.(Arg1757* )" "22"
"0000698300" "00023885" "90" "7228" "0" "7228" "0" "c.7228C>T" "r.(?)" "p.(Arg2410* )" "31"
"0000698301" "00023885" "90" "7891" "0" "7891" "0" "c.7891G>T" "r.(?)" "p.(Gly2631* )" "31"
"0000698302" "00023885" "90" "9248" "0" "9248" "0" "c.9248del" "r.(?)" "p.(Glu3083Glyfs* 36)" "34"
"0000698303" "00023885" "90" "11176" "0" "11176" "0" "c.11176del" "r.(?)" "p.(Gln3726Asnfs* 23)" "39"
"0000698304" "00023885" "90" "11233" "0" "11233" "0" "c.11233C>T" "r.(?)" "p.(Gln3745* )" "39"
"0000698305" "00023885" "90" "11272" "0" "11272" "0" "c.11272C>T" "r.(?)" "p.(Gln3758* )" "39"
"0000698306" "00023885" "90" "11952" "0" "11952" "0" "c.11952dup" "r.(?)" "p.(Leu3985Thrfs* 27)" "39"
"0000698307" "00023885" "90" "13507" "0" "13507" "0" "c.13507C>T" "r.(?)" "p.(Gln4503* )" "39"
"0000698308" "00023885" "70" "14381" "0" "14381" "0" "c.14381A>G" "r.(?)" "p.(Lys4794Arg)" "45"
"0000698309" "00023885" "90" "14710" "0" "14710" "0" "c.14710C>T" "r.(?)" "p.(Arg4904* )" "48"
"0000698310" "00023885" "90" "16236" "0" "16236" "0" "c.16236del" "r.(?)" "p.(Tyr5412* )" "51"
"0000698311" "00023885" "70" "16232" "0" "16232" "0" "c.16232T>A" "r.(?)" "p.(Leu5411His)" "51"
"0000698312" "00023885" "70" "16295" "0" "16295" "0" "c.16295G>A" "r.(?)" "p.(Arg5432Gln)" "51"
"0000698313" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454* )" "52"
"0000698314" "00023885" "90" "16360" "0" "16360" "0" "c.16360C>T" "r.(?)" "p.(Arg5454* )" "52"
"0000698315" "00023885" "90" "16469" "0" "16470" "0" "c.16469_16470del" "r.(?)" "p.(Lys5490Argfs* 21)" "53"
"0000703409" "00023885" "70" "15545" "0" "15545" "0" "c.15545dup" "r.(?)" "p.(Leu5183Profs*16)" ""
"0000703857" "00023885" "90" "9109" "0" "9109" "0" "c.9109dup" "r.(?)" "p.(His3037Profs*4)" "34"
"0000703858" "00023885" "90" "9829" "0" "9829" "0" "c.9829C>T" "r.(?)" "p.(Gln3277*)" "34"
"0000703859" "00023885" "50" "16384" "0" "16384" "0" "c.16384G>C" "r.(?)" "p.(Asp5462His)" "52"
"0000703860" "00023885" "90" "7307" "0" "7308" "0" "c.7307_7308insT" "r.(?)" "p.(Ser2438Ilefs*11)" "31"
"0000703861" "00023885" "90" "303" "0" "303" "0" "c.303del" "r.(?)" "p.(Ser102Alafs*28)" "3"
"0000703862" "00023885" "90" "2008" "0" "2009" "0" "c.2008_2009insT" "r.(?)" "p.(Pro670Leufs*7)" "10"
"0000703863" "00023885" "90" "5783" "-1" "5783" "-1" "c.5783-1G>A" "r.spl" "p.?" "26"
"0000703864" "00023885" "50" "6183" "3" "6183" "3" "c.6183+3G>T" "r.spl?" "p.?" "29"
"0000703865" "00023885" "90" "7426" "0" "7426" "0" "c.7426G>T" "r.(?)" "p.(Glu2476*)" "31"
"0000703866" "00023885" "90" "6844" "0" "6844" "0" "c.6844del" "r.(?)" "p.(Arg2282Glyfs*4)" "31"
"0000703867" "00023885" "50" "15104" "0" "15104" "0" "c.15104G>C" "r.(?)" "p.(Cys5035Ser)" "48"
"0000703868" "00023885" "90" "3754" "0" "3754" "0" "c.3754C>T" "r.(?)" "p.(Arg1252*)" "11"
"0000703869" "00023885" "90" "16294" "0" "16294" "0" "c.16294C>T" "r.(?)" "p.(Arg5432Trp)" "51"
"0000703870" "00023885" "90" "16428" "0" "16428" "0" "c.16428del" "r.(?)" "p.(Cys5477Valfs*10)" "53"
"0000703871" "00023885" "90" "5263" "0" "5263" "0" "c.5263C>T" "r.(?)" "p.(Gln1755*)" "22"
"0000703872" "00023885" "90" "4366" "0" "4366" "0" "c.4366dup" "r.(?)" "p.(Cys1456Leufs*35)" "15"
"0000703873" "00023885" "90" "12986" "0" "13010" "0" "c.12986_13010del" "r.(?)" "p.(Gln4329Leufs*47)" "39"
"0000703874" "00023885" "90" "3103" "0" "3103" "0" "c.3103C>A" "r.(?)" "p.(Gln1035Lys)" "11"
"0000703875" "00023885" "90" "5166" "0" "5166" "0" "c.5166del" "r.(?)" "p.(Ser1722Argfs*9)" "21"
"0000703876" "00023885" "90" "" "0" "" "0" "c.1_*2805{0}" "r.0" "p.0" "_1_54_"
"0000703877" "00023885" "90" "4132" "-1" "4418" "1" "c.(3906+1_4132-1)_(4418+1_4742-1)del" "r.(?)" "p.?" "(11i_13i)_(15i_18i)"
"0000703878" "00023885" "90" "4237" "-1" "10231" "1" "c.(4236+1_4237-1)_(10231+1_10232-1)dup" "r.?" "p.?" "14i_34i"
"0000703879" "00023885" "90" "0" "0" "0" "0" "c.(13839+1_14000-1)_*2805{0}" "r.(?)" "p.?" "(41i_42i)_54_"
"0000724066" "00023885" "70" "15739" "0" "15739" "0" "c.15739G>A" "r.(?)" "p.(Glu5247Lys)" ""
"0000724067" "00023885" "70" "15680" "0" "15682" "0" "c.15680_15682del" "r.(?)" "p.(Cys5227del)" ""
"0000724068" "00023885" "90" "15256" "0" "15256" "0" "c.15256C>T" "r.(?)" "p.(Arg5086Ter)" ""
"0000724069" "00023885" "90" "14032" "0" "14035" "0" "c.14032_14035del" "r.(?)" "p.(Ala4678Profs*118)" ""
"0000724070" "00023885" "50" "13066" "0" "13066" "0" "c.13066G>C" "r.(?)" "p.(Gly4356Arg)" ""
"0000724071" "00023885" "90" "12138" "0" "12148" "0" "c.12138_12148delinsGCCCTCTACA" "r.(?)" "p.(Gly4047Profs*5)" ""
"0000724072" "00023885" "50" "11792" "0" "11809" "0" "c.11792_11809del" "r.(?)" "p.(Leu3931_Gln3936del)" ""
"0000724073" "00023885" "90" "11740" "0" "11740" "0" "c.11740C>T" "r.(?)" "p.(Gln3914*)" ""
"0000724074" "00023885" "70" "10595" "0" "10595" "0" "c.10595T>C" "r.(?)" "p.(Ile3532Thr)" ""
"0000724075" "00023885" "50" "10228" "0" "10228" "0" "c.10228A>G" "r.(?)" "p.(Thr3410Ala)" ""
"0000724076" "00023885" "50" "8924" "0" "8924" "0" "c.8924G>A" "r.(?)" "p.(Arg2975His)" ""
"0000724077" "00023885" "50" "8540" "0" "8540" "0" "c.8540G>A" "r.(?)" "p.(Arg2847His)" ""
"0000724078" "00023885" "30" "8334" "0" "8334" "0" "c.8334A>G" "r.(?)" "p.(Pro2778=)" ""
"0000724079" "00023885" "50" "8125" "0" "8125" "0" "c.8125G>C" "r.(?)" "p.(Ala2709Pro)" ""
"0000724080" "00023885" "50" "8032" "0" "8032" "0" "c.8032G>C" "r.(?)" "p.(Glu2678Gln)" ""
"0000724081" "00023885" "30" "8031" "0" "8031" "0" "c.8031G>A" "r.(?)" "p.(Leu2677=)" ""
"0000724082" "00023885" "50" "7645" "0" "7645" "0" "c.7645C>G" "r.(?)" "p.(Pro2549Ala)" ""
"0000724083" "00023885" "50" "7456" "0" "7456" "0" "c.7456C>T" "r.(?)" "p.(His2486Tyr)" ""
"0000724084" "00023885" "50" "7378" "0" "7378" "0" "c.7378C>T" "r.(?)" "p.(Arg2460Cys)" ""
"0000724085" "00023885" "30" "7031" "0" "7031" "0" "c.7031G>A" "r.(?)" "p.(Gly2344Asp)" ""
"0000724087" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.(Asp1876GlyfsTer38)" ""
"0000724088" "00023885" "90" "5503" "0" "5503" "0" "c.5503dup" "r.(?)" "p.(Arg1835ProfsTer13)" ""
"0000724089" "00023885" "50" "4571" "0" "4571" "0" "c.4571G>A" "r.(?)" "p.(Arg1524His)" ""
"0000724090" "00023885" "90" "4489" "0" "4507" "0" "c.4489_4507del" "r.(?)" "p.(His1497AlafsTer3)" ""
"0000724091" "00023885" "50" "3889" "0" "3889" "0" "c.3889C>T" "r.(?)" "p.(Arg1297Cys)" ""
"0000724092" "00023885" "30" "2074" "0" "2074" "0" "c.2074C>A" "r.(?)" "p.(Pro692Thr)" ""
"0000724093" "00023885" "30" "1033" "0" "1033" "0" "c.1033C>G" "r.(?)" "p.(Leu345Val)" ""
"0000730880" "00023885" "90" "8311" "0" "8311" "0" "c.8311C>T" "r.(?)" "p.(Arg2771*)" ""
"0000733939" "00023885" "50" "14815" "0" "14815" "0" "c.14815G>A" "r.(?)" "p.(Glu4939Lys)" ""
"0000734030" "00023885" "50" "6505" "0" "6505" "0" "c.6505G>C" "r.(?)" "p.(Ala2169Pro)" ""
"0000734031" "00023885" "50" "15671" "0" "15671" "0" "c.15671G>A" "r.(?)" "p.(Arg5224His)" ""
"0000734066" "00023885" "50" "5524" "0" "5524" "0" "c.5524G>A" "r.(?)" "p.(Asp1842Asn)" ""
"0000734122" "00023885" "50" "13402" "0" "13402" "0" "c.13402C>T" "r.(?)" "p.(Arg4468Trp)" ""
"0000734288" "00023885" "50" "4682" "0" "4682" "0" "c.4682T>G" "r.(?)" "p.(Val1561Gly)" ""
"0000734514" "00023885" "50" "1754" "0" "1754" "0" "c.1754C>T" "r.(?)" "p.(Pro585Leu)" ""
"0000734536" "00023885" "50" "15671" "0" "15671" "0" "c.15671G>A" "r.(?)" "p.(Arg5224His)" ""
"0000734623" "00023885" "50" "4682" "0" "4682" "0" "c.4682T>G" "r.(?)" "p.(Val1561Gly)" ""
"0000734650" "00023885" "50" "4706" "0" "4706" "0" "c.4706C>T" "r.(?)" "p.(Pro1569Leu)" ""
"0000734656" "00023885" "50" "15671" "0" "15671" "0" "c.15671G>A" "r.(?)" "p.(Arg5224His)" ""
"0000735026" "00023885" "50" "12329" "0" "12329" "0" "c.12329C>T" "r.(?)" "p.(Thr4110Ile)" ""
"0000735027" "00023885" "50" "13723" "0" "13723" "0" "c.13723C>A" "r.(?)" "p.(Leu4575Ile)" ""
"0000735040" "00023885" "50" "323" "0" "323" "0" "c.323C>A" "r.(?)" "p.(Ala108Glu)" ""
"0000735096" "00023885" "50" "11141" "0" "11141" "0" "c.11141G>A" "r.(?)" "p.(Arg3714Lys)" ""
"0000735307" "00023885" "50" "12118" "0" "12118" "0" "c.12118G>A" "r.(?)" "p.(Gly4040Arg)" ""
"0000735431" "00023885" "50" "12764" "0" "12764" "0" "c.12764G>A" "r.(?)" "p.(Gly4255Asp)" ""
"0000735489" "00023885" "50" "11141" "0" "11141" "0" "c.11141G>A" "r.(?)" "p.(Arg3714Lys)" ""
"0000735538" "00023885" "50" "3572" "0" "3572" "0" "c.3572C>T" "r.(?)" "p.(Pro1191Leu)" ""
"0000763205" "00023885" "90" "8311" "0" "8311" "0" "c.8311C>T" "r.(?)" "p.(Arg2771*)" ""
"0000786648" "00023885" "70" "13884" "0" "13884" "0" "c.13884del" "r.(?)" "p.(Thr4629ProfsTer11)" ""
"0000786902" "00023885" "90" "303" "0" "303" "0" "c.303dup" "r.(?)" "p.(Ser102GlufsTer6)" "3"
"0000786903" "00023885" "70" "7456" "0" "7456" "0" "c.7456del" "r.(?)" "p.(His2486ThrfsTer57)" "31"
"0000786904" "00023885" "70" "14516" "-2" "14516" "-2" "c.14516-2A>C" "r.spl" "p.?" "46i"
"0000805745" "00023885" "50" "15973" "0" "15973" "0" "c.15973C>A" "r.(?)" "p.(Pro5325Thr)" ""
"0000805746" "00023885" "30" "15797" "0" "15797" "0" "c.15797G>A" "r.(?)" "p.(Arg5266His)" ""
"0000805747" "00023885" "50" "15595" "0" "15595" "0" "c.15595T>G" "r.(?)" "p.(Phe5199Val)" ""
"0000805748" "00023885" "90" "15061" "0" "15061" "0" "c.15061C>T" "r.(?)" "p.(Arg5021*)" ""
"0000805749" "00023885" "30" "14814" "0" "14814" "0" "c.14814C>T" "r.(?)" "p.(Thr4938=)" ""
"0000805750" "00023885" "30" "14473" "0" "14473" "0" "c.14473C>T" "r.(?)" "p.(Arg4825Trp)" ""
"0000805751" "00023885" "30" "13258" "0" "13258" "0" "c.13258C>T" "r.(?)" "p.(Arg4420Trp)" ""
"0000805752" "00023885" "30" "12944" "0" "12944" "0" "c.12944A>G" "r.(?)" "p.(Gln4315Arg)" ""
"0000805753" "00023885" "50" "11819" "0" "11836" "0" "c.11819_11836dup" "r.(?)" "p.(Leu3940_Gln3945dup)" ""
"0000805754" "00023885" "50" "11754" "0" "11754" "0" "c.11754G>T" "r.(?)" "p.(Gln3918His)" ""
"0000805755" "00023885" "30" "11729" "0" "11734" "0" "c.11729_11734del" "r.(?)" "p.(Gln3910_Gln3911del)" ""
"0000805756" "00023885" "50" "11729" "0" "11734" "0" "c.11729_11734dup" "r.(?)" "p.(Gln3910_Gln3911dup)" ""
"0000805757" "00023885" "30" "11538" "0" "11538" "0" "c.11538C>T" "r.(?)" "p.(Gly3846=)" ""
"0000805758" "00023885" "90" "11491" "0" "11491" "0" "c.11491C>T" "r.(?)" "p.(Gln3831*)" ""
"0000805759" "00023885" "50" "11012" "0" "11012" "0" "c.11012C>T" "r.(?)" "p.(Pro3671Leu)" ""
"0000805760" "00023885" "30" "10611" "0" "10611" "0" "c.10611G>A" "r.(?)" "p.(Lys3537=)" ""
"0000805761" "00023885" "30" "10542" "0" "10542" "0" "c.10542G>A" "r.(?)" "p.(Leu3514=)" ""
"0000805762" "00023885" "50" "10472" "0" "10472" "0" "c.10472G>A" "r.(?)" "p.(Arg3491His)" ""
"0000805763" "00023885" "50" "10065" "0" "10065" "0" "c.10065T>A" "r.(?)" "p.(His3355Gln)" ""
"0000805764" "00023885" "30" "9177" "0" "9177" "0" "c.9177T>C" "r.(?)" "p.(Thr3059=)" ""
"0000805765" "00023885" "50" "7981" "0" "7981" "0" "c.7981C>T" "r.(?)" "p.(Leu2661Phe)" ""
"0000805766" "00023885" "30" "7497" "0" "7497" "0" "c.7497C>T" "r.(?)" "p.(Pro2499=)" ""
"0000805767" "00023885" "50" "7299" "0" "7299" "0" "c.7299A>C" "r.(?)" "p.(Glu2433Asp)" ""
"0000805768" "00023885" "30" "7215" "0" "7215" "0" "c.7215C>T" "r.(?)" "p.(Ser2405=)" ""
"0000805769" "00023885" "30" "6998" "0" "6998" "0" "c.6998C>T" "r.(?)" "p.(Pro2333Leu)" ""
"0000805770" "00023885" "50" "6649" "0" "6649" "0" "c.6649C>T" "r.(?)" "p.(Arg2217Cys)" ""
"0000805771" "00023885" "30" "6579" "0" "6579" "0" "c.6579G>A" "r.(?)" "p.(Pro2193=)" ""
"0000805772" "00023885" "30" "6441" "0" "6441" "0" "c.6441G>A" "r.(?)" "p.(Ala2147=)" ""
"0000805773" "00023885" "30" "6264" "0" "6264" "0" "c.6264C>T" "r.(?)" "p.(Thr2088=)" ""
"0000805774" "00023885" "30" "6012" "0" "6012" "0" "c.6012G>A" "r.(?)" "p.(Gln2004=)" ""
"0000805775" "00023885" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" ""
"0000805776" "00023885" "30" "4626" "0" "4626" "0" "c.4626T>C" "r.(?)" "p.(Asp1542=)" ""
"0000805777" "00023885" "30" "4392" "0" "4392" "0" "c.4392C>A" "r.(?)" "p.(Val1464=)" ""
"0000805778" "00023885" "70" "4151" "0" "4151" "0" "c.4151G>T" "r.(?)" "p.(Gly1384Val)" ""
"0000805779" "00023885" "30" "3565" "0" "3565" "0" "c.3565C>T" "r.(?)" "p.(Arg1189Cys)" ""
"0000805780" "00023885" "30" "2649" "0" "2649" "0" "c.2649C>A" "r.(?)" "p.(Phe883Leu)" ""
"0000805781" "00023885" "90" "2173" "0" "2173" "0" "c.2173del" "r.(?)" "p.(Leu725Cysfs*205)" ""
"0000805782" "00023885" "30" "1620" "0" "1620" "0" "c.1620T>C" "r.(?)" "p.(Pro540=)" ""
"0000816622" "00023885" "90" "11905" "0" "11905" "0" "c.11905C>T" "r.(?)" "p.(Gln3969Ter)" ""
"0000823302" "00023885" "70" "8368" "0" "8368" "0" "c.8368C>T" "r.(?)" "p.(Gln2790*)" ""
"0000832862" "00023885" "70" "15088" "0" "15088" "0" "c.15088C>T" "r.(?)" "p.(Arg5030Cys)" ""
"0000832863" "00023885" "30" "9639" "0" "9639" "0" "c.9639T>G" "r.(?)" "p.(Phe3213Leu)" ""
"0000853406" "00023885" "30" "15555" "0" "15555" "0" "c.15555C>T" "r.(?)" "p.(Phe5185=)" ""
"0000853407" "00023885" "90" "15461" "0" "15461" "0" "c.15461G>A" "r.(?)" "p.(Arg5154Gln)" ""
"0000853408" "00023885" "90" "15135" "0" "15135" "0" "c.15135del" "r.(?)" "p.(Pro5046Leufs*5)" ""
"0000853409" "00023885" "50" "15079" "0" "15079" "0" "c.15079C>G" "r.(?)" "p.(Arg5027Gly)" ""
"0000853410" "00023885" "90" "11914" "0" "11914" "0" "c.11914C>T" "r.(?)" "p.(Gln3972*)" ""
"0000853411" "00023885" "90" "11690" "0" "11690" "0" "c.11690T>G" "r.(?)" "p.(Leu3897*)" ""
"0000853412" "00023885" "90" "10582" "0" "10582" "0" "c.10582C>G" "r.(?)" "p.(Leu3528Val)" ""
"0000853413" "00023885" "30" "9326" "0" "9326" "0" "c.9326C>A" "r.(?)" "p.(Pro3109His)" ""
"0000853414" "00023885" "30" "8829" "0" "8829" "0" "c.8829C>T" "r.(?)" "p.(Asn2943=)" ""
"0000853415" "00023885" "30" "8366" "3" "8366" "3" "c.8366+3G>A" "r.spl?" "p.?" ""
"0000853416" "00023885" "50" "7037" "0" "7037" "0" "c.7037G>A" "r.(?)" "p.(Gly2346Asp)" ""
"0000853417" "00023885" "30" "6437" "0" "6437" "0" "c.6437C>T" "r.(?)" "p.(Pro2146Leu)" ""
"0000853418" "00023885" "30" "6435" "0" "6435" "0" "c.6435G>C" "r.(?)" "p.(Pro2145=)" ""
"0000853419" "00023885" "30" "5892" "0" "5892" "0" "c.5892G>A" "r.(?)" "p.(Pro1964=)" ""
"0000853420" "00023885" "30" "5752" "0" "5752" "0" "c.5752C>T" "r.(?)" "p.(Arg1918Cys)" ""
"0000853421" "00023885" "30" "4986" "0" "4986" "0" "c.4986C>T" "r.(?)" "p.(Cys1662=)" ""
"0000853422" "00023885" "10" "1426" "0" "1426" "0" "c.1426G>A" "r.(?)" "p.(Ala476Thr)" ""
"0000862998" "00023885" "30" "15978" "0" "15978" "0" "c.15978T>G" "r.(?)" "p.(Leu5326=)" ""
"0000862999" "00023885" "50" "14980" "0" "14980" "0" "c.14980C>G" "r.(?)" "p.(Leu4994Val)" ""
"0000863000" "00023885" "90" "14528" "0" "14543" "0" "c.14528_14543del" "r.(?)" "p.(Lys4843Argfs*10)" ""
"0000863001" "00023885" "30" "14202" "0" "14202" "0" "c.14202C>T" "r.(?)" "p.(Asp4734=)" ""
"0000863002" "00023885" "30" "12438" "0" "12438" "0" "c.12438G>A" "r.(?)" "p.(Gly4146=)" ""
"0000863003" "00023885" "30" "11756" "0" "11758" "0" "c.11756_11758dup" "r.(?)" "p.(Gln3919dup)" ""
"0000863004" "00023885" "30" "11583" "0" "11583" "0" "c.11583A>G" "r.(?)" "p.(Gln3861=)" ""
"0000863005" "00023885" "50" "10441" "-10" "10441" "-10" "c.10441-10C>G" "r.(=)" "p.(=)" ""
"0000863006" "00023885" "50" "9563" "0" "9563" "0" "c.9563C>T" "r.(?)" "p.(Thr3188Met)" ""
"0000863007" "00023885" "30" "7670" "0" "7670" "0" "c.7670C>T" "r.(?)" "p.(Pro2557Leu)" ""
"0000863008" "00023885" "30" "7323" "0" "7323" "0" "c.7323C>T" "r.(?)" "p.(Thr2441=)" ""
"0000863009" "00023885" "30" "6264" "0" "6264" "0" "c.6264C>T" "r.(?)" "p.(Thr2088=)" ""
"0000863010" "00023885" "30" "5181" "0" "5181" "0" "c.5181C>T" "r.(?)" "p.(Pro1727=)" ""
"0000863011" "00023885" "30" "4986" "0" "4986" "0" "c.4986C>T" "r.(?)" "p.(Cys1662=)" ""
"0000863012" "00023885" "30" "3769" "0" "3769" "0" "c.3769C>T" "r.(?)" "p.(Leu1257=)" ""
"0000863013" "00023885" "50" "3734" "0" "3734" "0" "c.3734C>T" "r.(?)" "p.(Ser1245Phe)" ""
"0000863014" "00023885" "50" "2579" "0" "2579" "0" "c.2579T>C" "r.(?)" "p.(Leu860Pro)" ""
"0000863015" "00023885" "30" "1903" "0" "1903" "0" "c.1903A>G" "r.(?)" "p.(Met635Val)" ""
"0000863016" "00023885" "30" "1413" "0" "1413" "0" "c.1413T>A" "r.(?)" "p.(Pro471=)" ""
"0000863017" "00023885" "30" "1378" "0" "1378" "0" "c.1378C>A" "r.(?)" "p.(Pro460Thr)" ""
"0000863018" "00023885" "90" "1197" "0" "1197" "0" "c.1197del" "r.(?)" "p.(His400Thrfs*2)" ""
"0000863019" "00023885" "30" "1075" "0" "1075" "0" "c.1075C>T" "r.(?)" "p.(Arg359Cys)" ""
"0000872181" "00023885" "90" "14878" "0" "14878" "0" "c.14878C>T" "r.(?)" "p.(Arg4960Ter)" ""
"0000881296" "00023885" "90" "8229" "1" "8229" "1" "c.8229+1G>A" "r.spl" "p.?" ""
"0000881297" "00023885" "90" "2579" "0" "2579" "0" "c.2579del" "r.(?)" "p.(Leu860ArgfsTer70)" ""
"0000881406" "00023885" "70" "8974" "0" "8974" "0" "c.8974G>T" "r.(?)" "p.(Glu2992*)" ""
"0000890592" "00023885" "90" "16438" "0" "16441" "0" "c.16438_16441del" "r.(?)" "p.(Asn5480ValfsTer6)" ""
"0000890594" "00023885" "90" "16093" "0" "16093" "0" "c.16093C>T" "r.(?)" "p.(Gln5365*)" ""
"0000890595" "00023885" "50" "15520" "0" "15520" "0" "c.15520C>T" "r.(?)" "p.(Arg5174Trp)" ""
"0000890596" "00023885" "50" "14711" "0" "14711" "0" "c.14711G>C" "r.(?)" "p.(Arg4904Pro)" ""
"0000890597" "00023885" "30" "14444" "0" "14444" "0" "c.14444A>G" "r.(?)" "p.(Tyr4815Cys)" ""
"0000890598" "00023885" "30" "14075" "8" "14075" "8" "c.14075+8C>T" "r.(=)" "p.(=)" ""
"0000890599" "00023885" "50" "14072" "0" "14072" "0" "c.14072T>A" "r.(?)" "p.(Val4691Asp)" ""
"0000890600" "00023885" "30" "13644" "0" "13644" "0" "c.13644C>T" "r.(?)" "p.(Ser4548=)" ""
"0000890601" "00023885" "50" "13441" "0" "13441" "0" "c.13441G>A" "r.(?)" "p.(Glu4481Lys)" ""
"0000890602" "00023885" "30" "11756" "0" "11758" "0" "c.11756_11758dup" "r.(?)" "p.(Gln3919dup)" ""
"0000890603" "00023885" "30" "11380" "0" "11380" "0" "c.11380C>T" "r.(?)" "p.(Pro3794Ser)" ""
"0000890604" "00023885" "30" "10966" "0" "10966" "0" "c.10966C>T" "r.(?)" "p.(Arg3656Cys)" ""
"0000890605" "00023885" "50" "10876" "0" "10876" "0" "c.10876C>T" "r.(?)" "p.(Arg3626Trp)" ""
"0000890606" "00023885" "50" "10803" "0" "10820" "0" "c.10803_10820dup" "r.(?)" "p.(Gln3607_Gln3612dup)" ""
"0000890607" "00023885" "30" "10441" "-8" "10441" "-8" "c.10441-8C>T" "r.(=)" "p.(=)" ""
"0000890608" "00023885" "90" "9832" "0" "9832" "0" "c.9832C>T" "r.(?)" "p.(Gln3278*)" ""
"0000890609" "00023885" "30" "8627" "0" "8627" "0" "c.8627A>C" "r.(?)" "p.(Gln2876Pro)" ""
"0000890610" "00023885" "50" "8129" "0" "8129" "0" "c.8129C>G" "r.(?)" "p.(Ala2710Gly)" ""
"0000890611" "00023885" "30" "8047" "-4" "8047" "-4" "c.8047-4A>G" "r.spl?" "p.?" ""
"0000890612" "00023885" "50" "7862" "0" "7862" "0" "c.7862C>G" "r.(?)" "p.(Pro2621Arg)" ""
"0000890613" "00023885" "30" "7571" "0" "7571" "0" "c.7571C>T" "r.(?)" "p.(Thr2524Met)" ""
"0000890614" "00023885" "50" "7011" "0" "7011" "0" "c.7011G>T" "r.(?)" "p.(Gln2337His)" ""
"0000890615" "00023885" "90" "6868" "0" "6871" "0" "c.6868_6871del" "r.(?)" "p.(Glu2290Serfs*31)" ""
"0000890616" "00023885" "30" "6836" "0" "6836" "0" "c.6836G>A" "r.(?)" "p.(Gly2279Glu)" ""
"0000890617" "00023885" "30" "6811" "0" "6811" "0" "c.6811C>T" "r.(?)" "p.(Pro2271Ser)" ""
"0000890618" "00023885" "90" "6789" "0" "6789" "0" "c.6789del" "r.(?)" "p.(Gly2265Glufs*21)" ""
"0000890619" "00023885" "30" "6769" "0" "6769" "0" "c.6769G>A" "r.(?)" "p.(Val2257Met)" ""
"0000890620" "00023885" "30" "6682" "0" "6682" "0" "c.6682A>G" "r.(?)" "p.(Thr2228Ala)" ""
"0000890621" "00023885" "30" "5244" "0" "5244" "0" "c.5244G>A" "r.(?)" "p.(Gly1748=)" ""
"0000890622" "00023885" "90" "5058" "0" "5058" "0" "c.5058dup" "r.(?)" "p.(Arg1687Thrfs*4)" ""
"0000890623" "00023885" "90" "4395" "0" "4395" "0" "c.4395dup" "r.(?)" "p.(Lys1466Glnfs*25)" ""
"0000890624" "00023885" "50" "4193" "0" "4193" "0" "c.4193C>T" "r.(?)" "p.(Ser1398Leu)" ""
"0000890625" "00023885" "50" "4020" "3" "4020" "3" "c.4020+3A>C" "r.spl?" "p.?" ""
"0000890626" "00023885" "50" "3944" "0" "3944" "0" "c.3944G>A" "r.(?)" "p.(Arg1315His)" ""
"0000890627" "00023885" "30" "3455" "0" "3455" "0" "c.3455C>T" "r.(?)" "p.(Pro1152Leu)" ""
"0000890628" "00023885" "30" "3162" "0" "3162" "0" "c.3162G>A" "r.(?)" "p.(Pro1054=)" ""
"0000890629" "00023885" "30" "2748" "0" "2748" "0" "c.2748G>A" "r.(?)" "p.(Pro916=)" ""
"0000890630" "00023885" "30" "1488" "0" "1488" "0" "c.1488G>A" "r.(?)" "p.(Pro496=)" ""
"0000890631" "00023885" "30" "839" "5" "839" "5" "c.839+5G>A" "r.spl?" "p.?" ""
"0000890632" "00023885" "50" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Ala278Asp)" ""
"0000890633" "00023885" "50" "86" "0" "86" "0" "c.86C>G" "r.(?)" "p.(Thr29Ser)" ""
"0000903134" "00023885" "50" "5189" "-1" "5189" "-1" "c.5189-1G>C" "r.(?)" "p.(?)" ""
"0000903135" "00023885" "50" "5782" "1" "5782" "1" "c.5782+1G>A" "r.(?)" "p.(?)" ""
"0000903163" "00023885" "70" "11180" "0" "11180" "0" "c.11180del" "r.(?)" "p.(Arg3727Leufs*22)" ""
"0000903212" "00023885" "90" "14516" "-9" "14516" "-1" "c.14516-9_14516-1delinsCACCAGAGTGGGAA" "r.(?)" "p.(?)" ""
"0000913858" "00023885" "30" "15900" "0" "15900" "0" "c.15900C>G" "r.(?)" "p.(Ala5300=)" ""
"0000913859" "00023885" "50" "14933" "0" "14933" "0" "c.14933G>A" "r.(?)" "p.(Arg4978His)" ""
"0000913860" "00023885" "30" "13549" "0" "13549" "0" "c.13549C>G" "r.(?)" "p.(Pro4517Ala)" ""
"0000913861" "00023885" "30" "13433" "0" "13433" "0" "c.13433G>A" "r.(?)" "p.(Arg4478Gln)" ""
"0000913862" "00023885" "30" "12673" "0" "12673" "0" "c.12673C>G" "r.(?)" "p.(Leu4225Val)" ""
"0000913863" "00023885" "50" "12659" "0" "12664" "0" "c.12659_12664dup" "r.(?)" "p.(Gln4220_Gln4221dup)" ""
"0000913864" "00023885" "90" "11848" "0" "11848" "0" "c.11848C>T" "r.(?)" "p.(Gln3950*)" ""
"0000913865" "00023885" "50" "9192" "0" "9192" "0" "c.9192T>G" "r.(?)" "p.(Asp3064Glu)" ""
"0000913866" "00023885" "50" "7742" "0" "7742" "0" "c.7742C>A" "r.(?)" "p.(Thr2581Lys)" ""
"0000913867" "00023885" "50" "5735" "0" "5735" "0" "c.5735C>T" "r.(?)" "p.(Pro1912Leu)" ""
"0000913868" "00023885" "30" "2992" "0" "2992" "0" "c.2992C>A" "r.(?)" "p.(Pro998Thr)" ""
"0000921844" "00023885" "90" "6354" "0" "6354" "0" "c.6354del" "r.(?)" "p.(Ala2119LeufsTer25)" ""
"0000925637" "00023885" "30" "13684" "0" "13684" "0" "c.13684C>T" "r.(?)" "p.(Leu4562=)" ""
"0000925638" "00023885" "90" "11725" "0" "11725" "0" "c.11725dup" "r.(?)" "p.(Gln3909Profs*103)" ""
"0000925639" "00023885" "50" "11003" "0" "11003" "0" "c.11003C>A" "r.(?)" "p.(Pro3668His)" ""
"0000925640" "00023885" "30" "7060" "0" "7060" "0" "c.7060C>T" "r.(?)" "p.(Pro2354Ser)" ""
"0000925641" "00023885" "30" "6827" "0" "6827" "0" "c.6827C>A" "r.(?)" "p.(Pro2276Gln)" ""
"0000925642" "00023885" "30" "5189" "-13" "5189" "-13" "c.5189-13G>A" "r.(=)" "p.(=)" ""
"0000925643" "00023885" "30" "4194" "0" "4194" "0" "c.4194G>A" "r.(?)" "p.(Ser1398=)" ""
"0000925644" "00023885" "30" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.(Ser518Leu)" ""
"0000930097" "00023885" "50" "15907" "0" "15907" "0" "c.15907C>T" "r.(?)" "p.(Arg5303Cys)" ""
"0000930098" "00023885" "30" "14382" "14" "14382" "14" "c.14382+14G>A" "r.(=)" "p.(=)" ""
"0000930099" "00023885" "30" "13995" "0" "13995" "0" "c.13995G>A" "r.(?)" "p.(=)" ""
"0000930100" "00023885" "90" "13606" "0" "13606" "0" "c.13606C>T" "r.(?)" "p.(Arg4536*)" ""
"0000930101" "00023885" "90" "12301" "0" "12301" "0" "c.12301C>T" "r.(?)" "p.(Gln4101*)" ""
"0000930102" "00023885" "30" "11949" "0" "11949" "0" "c.11949T>G" "r.(?)" "p.(=)" ""
"0000930103" "00023885" "50" "9674" "0" "9674" "0" "c.9674G>T" "r.(?)" "p.(Gly3225Val)" ""
"0000930104" "00023885" "50" "4543" "0" "4543" "0" "c.4543G>T" "r.(?)" "p.(Val1515Leu)" ""
"0000930105" "00023885" "30" "2373" "0" "2373" "0" "c.2373G>A" "r.(?)" "p.(=)" ""
"0000930106" "00023885" "30" "1149" "0" "1149" "0" "c.1149C>T" "r.(?)" "p.(Asp383=)" ""
"0000931895" "00023885" "90" "8044" "0" "8044" "0" "c.8044C>T" "r.(?)" "p.(Gln2682*)" ""
"0000931913" "00023885" "90" "11093" "0" "11093" "0" "c.11093dup" "r.(?)" "p.(Phe3699Leufs*14)" ""
"0000932925" "00023885" "90" "3754" "0" "3754" "0" "c.3754dup" "r.(?)" "p.(Arg1252ProfsTer3)" ""
"0000933929" "00023885" "50" "8030" "0" "8030" "0" "c.8030T>C" "r.(?)" "p.(Leu2677Pro)" ""
"0000935198" "00023885" "70" "15340" "0" "15340" "0" "c.15340C>T" "r.(?)" "p.(His5114Tyr)" ""
"0000939805" "00023885" "90" "15641" "0" "15641" "0" "c.15641G>A" "r.(?)" "p.(Arg5214His)" "48"
"0000949961" "00023885" "90" "15143" "0" "15143" "0" "c.15143G>A" "r.(?)" "p.(Arg5048His)" ""
"0000949962" "00023885" "30" "11220" "0" "11222" "0" "c.11220_11222dup" "r.(?)" "p.(Gln3745dup)" ""
"0000949963" "00023885" "30" "10281" "0" "10281" "0" "c.10281C>T" "r.(?)" "p.(=)" ""
"0000949964" "00023885" "30" "9780" "0" "9780" "0" "c.9780G>A" "r.(?)" "p.(=)" ""
"0000949965" "00023885" "50" "9244" "0" "9244" "0" "c.9244C>T" "r.(?)" "p.(Arg3082Trp)" ""
"0000949966" "00023885" "30" "7926" "0" "7926" "0" "c.7926C>T" "r.(?)" "p.(=)" ""
"0000949967" "00023885" "30" "7198" "0" "7198" "0" "c.7198C>G" "r.(?)" "p.(Pro2400Ala)" ""
"0000949968" "00023885" "30" "6643" "0" "6643" "0" "c.6643T>A" "r.(?)" "p.(Ser2215Thr)" ""
"0000949969" "00023885" "30" "6264" "0" "6264" "0" "c.6264C>T" "r.(?)" "p.(Thr2088=)" ""
"0000949970" "00023885" "30" "5189" "-4" "5189" "-4" "c.5189-4A>G" "r.spl?" "p.?" ""
"0000949971" "00023885" "50" "5044" "0" "5044" "0" "c.5044G>A" "r.(?)" "p.(Glu1682Lys)" ""
"0000949972" "00023885" "50" "3472" "0" "3472" "0" "c.3472G>A" "r.(?)" "p.(Glu1158Lys)" ""
"0000949973" "00023885" "30" "2992" "0" "2992" "0" "c.2992C>A" "r.(?)" "p.(Pro998Thr)" ""
"0000949974" "00023885" "50" "2532" "0" "2585" "0" "c.2532_2585del" "r.(?)" "p.(Glu848_Glu865del)" ""
"0000949975" "00023885" "50" "1268" "0" "1268" "0" "c.1268G>A" "r.(?)" "p.(Gly423Glu)" ""
"0000949976" "00023885" "30" "879" "0" "879" "0" "c.879G>A" "r.(?)" "p.(Thr293=)" ""
"0000949977" "00023885" "50" "556" "0" "556" "0" "c.556T>C" "r.(?)" "p.(Ser186Pro)" ""
"0000949978" "00023885" "30" "33" "0" "33" "0" "c.33A>T" "r.(?)" "p.(Lys11Asn)" ""
"0000952247" "00023885" "70" "10658" "0" "10658" "0" "c.10658G>T" "r.(?)" "p.(Gly3553Val)" ""
"0000957704" "00023885" "70" "13135" "0" "13135" "0" "c.13135C>T" "r.(?)" "p.(Pro4379Ser)" ""
"0000966935" "00023885" "30" "14836" "0" "14836" "0" "c.14836G>A" "r.(?)" "p.(Val4946Ile)" ""
"0000966936" "00023885" "30" "10876" "0" "10876" "0" "c.10876C>T" "r.(?)" "p.(Arg3626Trp)" ""
"0000966941" "00023885" "30" "2506" "0" "2506" "0" "c.2506C>A" "r.(?)" "p.(Gln836Lys)" ""
"0000980292" "00023885" "70" "15341" "0" "15341" "0" "c.15341A>G" "r.(?)" "p.(His5114Arg)" ""
"0000980293" "00023885" "90" "15079" "0" "15079" "0" "c.15079C>T" "r.(?)" "p.(Arg5027*)" ""
"0000980294" "00023885" "50" "14933" "0" "14933" "0" "c.14933G>A" "r.(?)" "p.(Arg4978His)" ""
"0000980295" "00023885" "30" "13872" "0" "13872" "0" "c.13872G>A" "r.(?)" "p.(=)" ""
"0000980296" "00023885" "50" "13817" "0" "13817" "0" "c.13817A>G" "r.(?)" "p.(Tyr4606Cys)" ""
"0000980297" "00023885" "50" "13723" "0" "13723" "0" "c.13723C>A" "r.(?)" "p.(Leu4575Ile)" ""
"0000980298" "00023885" "30" "13071" "0" "13071" "0" "c.13071G>C" "r.(?)" "p.(Arg4357Ser)" ""
"0000980299" "00023885" "70" "12986" "0" "13010" "0" "c.12986_13010del" "r.(?)" "p.(Gln4329Leufs*47)" ""
"0000980300" "00023885" "30" "12712" "0" "12712" "0" "c.12712C>T" "r.(?)" "p.(Arg4238Cys)" ""
"0000980301" "00023885" "50" "11687" "0" "11687" "0" "c.11687C>A" "r.(?)" "p.(Ser3896Tyr)" ""
"0000980302" "00023885" "50" "11217" "0" "11222" "0" "c.11217_11222del" "r.(?)" "p.(Gln3744_Gln3745del)" ""
"0000980303" "00023885" "50" "10943" "0" "10943" "0" "c.10943C>A" "r.(?)" "p.(Pro3648Gln)" ""
"0000980304" "00023885" "10" "10671" "0" "10671" "0" "c.10671A>G" "r.(?)" "p.(Pro3557=)" ""
"0000980305" "00023885" "50" "10526" "0" "10526" "0" "c.10526A>T" "r.(?)" "p.(Gln3509Leu)" ""
"0000980306" "00023885" "30" "9677" "0" "9677" "0" "c.9677C>T" "r.(?)" "p.(Pro3226Leu)" ""
"0000980307" "00023885" "30" "8257" "0" "8257" "0" "c.8257C>T" "r.(?)" "p.(Pro2753Ser)" ""
"0000980308" "00023885" "30" "8181" "0" "8181" "0" "c.8181T>C" "r.(?)" "p.(=)" ""
"0000980309" "00023885" "30" "8162" "0" "8162" "0" "c.8162G>A" "r.(?)" "p.(Gly2721Asp)" ""
"0000980310" "00023885" "30" "8042" "0" "8042" "0" "c.8042G>A" "r.(?)" "p.(Arg2681Gln)" ""
"0000980311" "00023885" "30" "7705" "0" "7705" "0" "c.7705G>A" "r.(?)" "p.(Gly2569Ser)" ""
"0000980312" "00023885" "30" "7129" "0" "7129" "0" "c.7129C>T" "r.(?)" "p.(Pro2377Ser)" ""
"0000980313" "00023885" "50" "6904" "0" "6904" "0" "c.6904C>T" "r.(?)" "p.(Pro2302Ser)" ""
"0000980314" "00023885" "50" "6896" "0" "6896" "0" "c.6896A>G" "r.(?)" "p.(Tyr2299Cys)" ""
"0000980315" "00023885" "50" "6698" "0" "6698" "0" "c.6698C>G" "r.(?)" "p.(Thr2233Ser)" ""
"0000980316" "00023885" "90" "6235" "0" "6235" "0" "c.6235C>T" "r.(?)" "p.(Gln2079*)" ""
"0000980317" "00023885" "50" "5846" "0" "5846" "0" "c.5846A>G" "r.(?)" "p.(Gln1949Arg)" ""
"0000980318" "00023885" "30" "5189" "-4" "5189" "-4" "c.5189-4A>G" "r.spl?" "p.?" ""
"0000980319" "00023885" "30" "4348" "0" "4348" "0" "c.4348A>G" "r.(?)" "p.(Ile1450Val)" ""
"0000980320" "00023885" "30" "3906" "6" "3906" "6" "c.3906+6G>A" "r.(=)" "p.(=)" ""
"0000980321" "00023885" "30" "3677" "0" "3677" "0" "c.3677T>C" "r.(?)" "p.(Leu1226Pro)" ""
"0000980322" "00023885" "50" "2232" "0" "2258" "0" "c.2232_2258del" "r.(?)" "p.(Arg755_Pro763del)" ""
"0000980323" "00023885" "30" "1820" "0" "1820" "0" "c.1820C>T" "r.(?)" "p.(Pro607Leu)" ""
"0000980324" "00023885" "50" "1541" "0" "1541" "0" "c.1541C>T" "r.(?)" "p.(Pro514Leu)" ""
"0000980325" "00023885" "50" "1457" "0" "1457" "0" "c.1457C>G" "r.(?)" "p.(Ser486Cys)" ""
"0000980326" "00023885" "50" "1369" "0" "1369" "0" "c.1369C>T" "r.(?)" "p.(Pro457Ser)" ""
"0000980327" "00023885" "50" "1297" "0" "1297" "0" "c.1297C>T" "r.(?)" "p.(Pro433Ser)" ""
"0000980328" "00023885" "30" "682" "0" "682" "0" "c.682C>G" "r.(?)" "p.(Arg228Gly)" ""
"0001000076" "00023885" "30" "39951" "0" "39951" "0" "c.*23337C>T" "r.(=)" "p.(=)" ""
"0001000077" "00023885" "50" "15907" "0" "15907" "0" "c.15907C>T" "r.(?)" "p.(Arg5303Cys)" ""
"0001000078" "00023885" "30" "15836" "0" "15836" "0" "c.15836A>C" "r.(?)" "p.(Asp5279Ala)" ""
"0001000079" "00023885" "30" "15731" "0" "15731" "0" "c.15731A>G" "r.(?)" "p.(Lys5244Arg)" ""
"0001000080" "00023885" "50" "15659" "0" "15659" "0" "c.15659G>A" "r.(?)" "p.(Arg5220His)" ""
"0001000081" "00023885" "50" "15086" "0" "15086" "0" "c.15086T>C" "r.(?)" "p.(Met5029Thr)" ""
"0001000082" "00023885" "30" "15004" "0" "15004" "0" "c.15004C>T" "r.(?)" "p.(Arg5002Trp)" ""
"0001000083" "00023885" "30" "14314" "0" "14314" "0" "c.14314A>G" "r.(?)" "p.(Thr4772Ala)" ""
"0001000084" "00023885" "50" "14197" "0" "14197" "0" "c.14197G>A" "r.(?)" "p.(Glu4733Lys)" ""
"0001000085" "00023885" "30" "13964" "0" "13964" "0" "c.13964C>T" "r.(?)" "p.(Ala4655Val)" ""
"0001000086" "00023885" "30" "13001" "0" "13001" "0" "c.13001C>T" "r.(?)" "p.(Ala4334Val)" ""
"0001000087" "00023885" "30" "12889" "0" "12889" "0" "c.12889T>C" "r.(?)" "p.(Ser4297Pro)" ""
"0001000088" "00023885" "30" "12815" "0" "12815" "0" "c.12815G>A" "r.(?)" "p.(Gly4272Asp)" ""
"0001000089" "00023885" "30" "12682" "0" "12682" "0" "c.12682C>G" "r.(?)" "p.(Gln4228Glu)" ""
"0001000090" "00023885" "30" "12662" "0" "12664" "0" "c.12662_12664dup" "r.(?)" "p.(Gln4221dup)" ""
"0001000091" "00023885" "30" "12229" "0" "12229" "0" "c.12229C>T" "r.(?)" "p.(Leu4077Phe)" ""
"0001000092" "00023885" "30" "12019" "0" "12019" "0" "c.12019C>A" "r.(?)" "p.(Gln4007Lys)" ""
"0001000093" "00023885" "30" "11882" "0" "11882" "0" "c.11882A>C" "r.(?)" "p.(Gln3961Pro)" ""
"0001000094" "00023885" "30" "11862" "0" "11879" "0" "c.11862_11879del" "r.(?)" "p.(Leu3955_Gln3960del)" ""
"0001000095" "00023885" "30" "11717" "0" "11752" "0" "c.11717_11752del" "r.(?)" "p.(Leu3906_Gln3917del)" ""
"0001000096" "00023885" "30" "11714" "0" "11716" "0" "c.11714_11716dup" "r.(?)" "p.(Gln3905dup)" ""
"0001000097" "00023885" "50" "11179" "0" "11179" "0" "c.11179C>T" "r.(?)" "p.(Arg3727Cys)" ""
"0001000098" "00023885" "30" "11120" "0" "11120" "0" "c.11120G>A" "r.(?)" "p.(Arg3707Gln)" ""
"0001000099" "00023885" "50" "10985" "0" "10985" "0" "c.10985T>C" "r.(?)" "p.(Met3662Thr)" ""
"0001000100" "00023885" "30" "10256" "0" "10256" "0" "c.10256A>G" "r.(?)" "p.(Asp3419Gly)" ""
"0001000101" "00023885" "50" "9834" "0" "9835" "0" "c.9834_9835insGAGCAG" "r.(?)" "p.(Gln3278_Gln3279insGluGln)" ""
"0001000102" "00023885" "30" "9380" "0" "9380" "0" "c.9380G>A" "r.(?)" "p.(Arg3127His)" ""
"0001000103" "00023885" "30" "9329" "0" "9329" "0" "c.9329G>A" "r.(?)" "p.(Arg3110His)" ""
"0001000104" "00023885" "30" "9326" "0" "9326" "0" "c.9326C>A" "r.(?)" "p.(Pro3109His)" ""
"0001000105" "00023885" "30" "9295" "0" "9295" "0" "c.9295C>T" "r.(?)" "p.(Arg3099Cys)" ""
"0001000106" "00023885" "30" "8986" "0" "8986" "0" "c.8986G>A" "r.(?)" "p.(Asp2996Asn)" ""
"0001000107" "00023885" "30" "8830" "0" "8830" "0" "c.8830A>G" "r.(?)" "p.(Asn2944Asp)" ""
"0001000108" "00023885" "30" "8774" "0" "8774" "0" "c.8774C>T" "r.(?)" "p.(Ala2925Val)" ""
"0001000109" "00023885" "30" "8764" "0" "8764" "0" "c.8764C>T" "r.(?)" "p.(Arg2922Trp)" ""
"0001000110" "00023885" "30" "8713" "0" "8713" "0" "c.8713C>T" "r.(?)" "p.(Arg2905Cys)" ""
"0001000111" "00023885" "50" "8626" "0" "8626" "0" "c.8626C>T" "r.(?)" "p.(Gln2876*)" ""
"0001000112" "00023885" "50" "8203" "0" "8203" "0" "c.8203G>T" "r.(?)" "p.(Gly2735Cys)" ""
"0001000113" "00023885" "30" "7663" "0" "7663" "0" "c.7663G>A" "r.(?)" "p.(Gly2555Ser)" ""
"0001000114" "00023885" "30" "7463" "0" "7463" "0" "c.7463C>T" "r.(?)" "p.(Ser2488Leu)" ""
"0001000115" "00023885" "30" "7229" "0" "7229" "0" "c.7229G>C" "r.(?)" "p.(Arg2410Pro)" ""
"0001000116" "00023885" "30" "7201" "0" "7201" "0" "c.7201C>T" "r.(?)" "p.(Arg2401Cys)" ""
"0001000117" "00023885" "30" "7109" "0" "7109" "0" "c.7109G>A" "r.(?)" "p.(Arg2370His)" ""
"0001000118" "00023885" "30" "7061" "0" "7061" "0" "c.7061C>T" "r.(?)" "p.(Pro2354Leu)" ""
"0001000119" "00023885" "50" "7031" "0" "7031" "0" "c.7031G>A" "r.(?)" "p.(Gly2344Asp)" ""
"0001000120" "00023885" "30" "7028" "0" "7028" "0" "c.7028C>T" "r.(?)" "p.(Pro2343Leu)" ""
"0001000121" "00023885" "50" "7011" "0" "7011" "0" "c.7011G>T" "r.(?)" "p.(Gln2337His)" ""
"0001000122" "00023885" "30" "6889" "0" "6889" "0" "c.6889C>T" "r.(?)" "p.(Pro2297Ser)" ""
"0001000123" "00023885" "50" "6790" "0" "6790" "0" "c.6790G>C" "r.(?)" "p.(Gly2264Arg)" ""
"0001000124" "00023885" "30" "6733" "0" "6733" "0" "c.6733C>G" "r.(?)" "p.(Leu2245Val)" ""
"0001000125" "00023885" "30" "6608" "0" "6608" "0" "c.6608C>T" "r.(?)" "p.(Thr2203Met)" ""
"0001000126" "00023885" "90" "6595" "0" "6595" "0" "c.6595del" "r.(?)" "p.(Tyr2199Ilefs*65)" ""
"0001000127" "00023885" "30" "6521" "0" "6521" "0" "c.6521A>G" "r.(?)" "p.(Gln2174Arg)" ""
"0001000128" "00023885" "30" "6437" "0" "6437" "0" "c.6437C>T" "r.(?)" "p.(Pro2146Leu)" ""
"0001000129" "00023885" "50" "5759" "0" "5759" "0" "c.5759C>T" "r.(?)" "p.(Pro1920Leu)" ""
"0001000130" "00023885" "30" "5644" "5" "5644" "5" "c.5644+5G>A" "r.spl?" "p.?" ""
"0001000131" "00023885" "90" "5627" "0" "5630" "0" "c.5627_5630del" "r.(?)" "p.(Asp1876GlyfsTer38)" ""
"0001000132" "00023885" "30" "5462" "0" "5462" "0" "c.5462A>G" "r.(?)" "p.(Gln1821Arg)" ""
"0001000133" "00023885" "50" "5132" "0" "5132" "0" "c.5132A>G" "r.(?)" "p.(Lys1711Arg)" ""
"0001000134" "00023885" "50" "4850" "0" "4850" "0" "c.4850G>A" "r.(?)" "p.(Arg1617Gln)" ""
"0001000135" "00023885" "50" "4639" "0" "4639" "0" "c.4639G>A" "r.(?)" "p.(Ala1547Thr)" ""
"0001000136" "00023885" "70" "4421" "0" "4421" "0" "c.4421G>A" "r.(?)" "p.(Cys1474Tyr)" ""
"0001000137" "00023885" "50" "4000" "0" "4000" "0" "c.4000T>G" "r.(?)" "p.(Ser1334Ala)" ""
"0001000138" "00023885" "50" "3602" "0" "3602" "0" "c.3602A>C" "r.(?)" "p.(Lys1201Thr)" ""
"0001000139" "00023885" "30" "3392" "0" "3392" "0" "c.3392C>T" "r.(?)" "p.(Pro1131Leu)" ""
"0001000140" "00023885" "30" "3193" "0" "3193" "0" "c.3193T>A" "r.(?)" "p.(Ser1065Thr)" ""
"0001000141" "00023885" "30" "2534" "0" "2534" "0" "c.2534G>A" "r.(?)" "p.(Arg845Gln)" ""
"0001000142" "00023885" "50" "2236" "0" "2236" "0" "c.2236C>T" "r.(?)" "p.(Arg746Trp)" ""
"0001000143" "00023885" "50" "1922" "0" "1922" "0" "c.1922A>G" "r.(?)" "p.(Glu641Gly)" ""
"0001000144" "00023885" "30" "1553" "0" "1553" "0" "c.1553C>T" "r.(?)" "p.(Ser518Leu)" ""
"0001000145" "00023885" "50" "1505" "0" "1505" "0" "c.1505C>T" "r.(?)" "p.(Pro502Leu)" ""
"0001000146" "00023885" "30" "1364" "0" "1390" "0" "c.1364_1390del" "r.(?)" "p.(Glu455_Glu463del)" ""
"0001000147" "00023885" "30" "1309" "0" "1311" "0" "c.1309_1311del" "r.(?)" "p.(Glu437del)" ""
"0001000148" "00023885" "30" "1141" "0" "1141" "0" "c.1141C>T" "r.(?)" "p.(Pro381Ser)" ""
"0001000149" "00023885" "30" "1074" "0" "1074" "0" "c.1074C>G" "r.(?)" "p.(Ile358Met)" ""
"0001000150" "00023885" "30" "1043" "0" "1043" "0" "c.1043G>A" "r.(?)" "p.(Arg348His)" ""
"0001000151" "00023885" "50" "919" "0" "919" "0" "c.919A>G" "r.(?)" "p.(Met307Val)" ""
"0001007518" "00023885" "70" "5257" "0" "5259" "0" "c.5257_5259del" "r.(?)" "p.(Lys1753del)" ""
"0001007559" "00023885" "70" "5300" "0" "5300" "0" "c.5300T>A" "r.(?)" "p.(Met1767Lys)" ""
"0001011958" "00023885" "90" "12468" "0" "12468" "0" "c.12468del" "r.(?)" "p.(Gln4156HisfsTer5)" ""
"0001014981" "00023885" "90" "15536" "0" "15536" "0" "c.15536G>A" "r.(?)" "p.(Arg5179His)" ""
"0001014982" "00023885" "10" "10192" "0" "10192" "0" "c.10192A>G" "r.(?)" "p.(Met3398Val)" ""
"0001014983" "00023885" "50" "7787" "0" "7787" "0" "c.7787C>T" "r.(?)" "p.(Pro2596Leu)" ""
"0001014984" "00023885" "10" "2074" "0" "2074" "0" "c.2074C>A" "r.(?)" "p.(Pro692Thr)" ""
"0001014985" "00023885" "90" "154" "0" "154" "0" "c.154C>T" "r.(?)" "p.(Gln52*)" ""
"0001017474" "00023885" "70" "176" "1" "176" "1" "c.176+1del" "r.spl" "p.?" ""
"0001017477" "00023885" "90" "10810" "0" "10810" "0" "c.10810C>T" "r.(?)" "p.(Gln3604*)" "40"
"0001017823" "00023885" "90" "4818" "0" "4818" "0" "c.4818dup" "r.(?)" "p.(Pro1607Thrfs*24)" "20"
"0001026184" "00023885" "50" "14896" "0" "14896" "0" "c.14896C>T" "r.(?)" "p.(Arg4966Trp)" ""
"0001026185" "00023885" "50" "14195" "0" "14195" "0" "c.14195A>G" "r.(?)" "p.(Gln4732Arg)" ""
"0001026186" "00023885" "90" "11875" "0" "11875" "0" "c.11875C>T" "r.(?)" "p.(Gln3959*)" ""
"0001026187" "00023885" "50" "10666" "0" "10666" "0" "c.10666T>C" "r.(?)" "p.(Phe3556Leu)" ""
"0001026188" "00023885" "50" "7687" "0" "7687" "0" "c.7687A>C" "r.(?)" "p.(Asn2563His)" ""
"0001026189" "00023885" "30" "6998" "0" "6998" "0" "c.6998C>T" "r.(?)" "p.(Pro2333Leu)" ""
"0001026190" "00023885" "30" "6573" "0" "6573" "0" "c.6573G>A" "r.(?)" "p.(Thr2191=)" ""
"0001026191" "00023885" "30" "1396" "0" "1396" "0" "c.1396C>T" "r.(?)" "p.(Arg466Cys)" ""
"0001039253" "00023885" "50" "40054" "0" "40054" "0" "c.*23440C>A" "r.(=)" "p.(=)" ""
"0001039254" "00023885" "50" "39297" "0" "39297" "0" "c.*22683G>A" "r.(=)" "p.(=)" ""
"0001039255" "00023885" "30" "16499" "0" "16499" "0" "c.16499G>A" "r.(?)" "p.(Arg5500Gln)" ""
"0001039256" "00023885" "50" "16493" "0" "16493" "0" "c.16493C>G" "r.(?)" "p.(Ser5498Cys)" ""
"0001039257" "00023885" "30" "16214" "0" "16214" "0" "c.16214G>A" "r.(?)" "p.(Arg5405His)" ""
"0001039258" "00023885" "90" "15951" "0" "15951" "0" "c.15951T>G" "r.(?)" "p.(Tyr5317*)" ""
"0001039259" "00023885" "30" "15922" "-7" "15922" "-7" "c.15922-7C>T" "r.(=)" "p.(=)" ""
"0001039260" "00023885" "30" "15668" "0" "15668" "0" "c.15668A>G" "r.(?)" "p.(Asn5223Ser)" ""
"0001039261" "00023885" "30" "15120" "0" "15120" "0" "c.15120C>T" "r.(?)" "p.(=)" ""
"0001039262" "00023885" "50" "14605" "0" "14605" "0" "c.14605C>G" "r.(?)" "p.(Leu4869Val)" ""
"0001039263" "00023885" "30" "14462" "0" "14462" "0" "c.14462A>G" "r.(?)" "p.(Glu4821Gly)" ""
"0001039264" "00023885" "30" "13139" "0" "13139" "0" "c.13139C>T" "r.(?)" "p.(Pro4380Leu)" ""
"0001039265" "00023885" "30" "12816" "0" "12816" "0" "c.12816C>A" "r.(?)" "p.(=)" ""
"0001039266" "00023885" "50" "12814" "0" "12814" "0" "c.12814G>A" "r.(?)" "p.(Gly4272Ser)" ""
"0001039267" "00023885" "50" "12662" "0" "12664" "0" "c.12662_12664dup" "r.(?)" "p.(Gln4221dup)" ""
"0001039268" "00023885" "50" "12642" "0" "12642" "0" "c.12642A>C" "r.(?)" "p.(Leu4214Phe)" ""
"0001039269" "00023885" "30" "12578" "0" "12578" "0" "c.12578C>T" "r.(?)" "p.(Thr4193Met)" ""
"0001039270" "00023885" "30" "12524" "0" "12524" "0" "c.12524C>A" "r.(?)" "p.(Pro4175Gln)" ""
"0001039271" "00023885" "30" "11794" "0" "11794" "0" "c.11794C>G" "r.(?)" "p.(Gln3932Glu)" ""
"0001039272" "00023885" "50" "11704" "0" "11704" "0" "c.11704C>G" "r.(?)" "p.(Gln3902Glu)" ""
"0001039273" "00023885" "10" "11380" "0" "11380" "0" "c.11380C>T" "r.(?)" "p.(Pro3794Ser)" ""
"0001039274" "00023885" "50" "10803" "0" "10820" "0" "c.10803_10820dup" "r.(?)" "p.(Gln3607_Gln3612dup)" ""
"0001039275" "00023885" "50" "10109" "0" "10109" "0" "c.10109A>G" "r.(?)" "p.(Gln3370Arg)" ""
"0001039276" "00023885" "30" "10033" "0" "10033" "0" "c.10033C>T" "r.(?)" "p.(Pro3345Ser)" ""
"0001039277" "00023885" "30" "9995" "0" "9995" "0" "c.9995C>G" "r.(?)" "p.(Thr3332Ser)" ""
"0001039278" "00023885" "50" "9846" "0" "9848" "0" "c.9846_9848dup" "r.(?)" "p.(Gln3282dup)" ""
"0001039279" "00023885" "50" "9377" "0" "9377" "0" "c.9377G>T" "r.(?)" "p.(Gly3126Val)" ""
"0001039280" "00023885" "50" "8669" "0" "8669" "0" "c.8669C>G" "r.(?)" "p.(Pro2890Arg)" ""
"0001039281" "00023885" "30" "8579" "0" "8579" "0" "c.8579G>A" "r.(?)" "p.(Arg2860His)" ""
"0001039282" "00023885" "50" "8082" "0" "8082" "0" "c.8082G>C" "r.(?)" "p.(Gln2694His)" ""
"0001039283" "00023885" "50" "6383" "0" "6383" "0" "c.6383G>T" "r.(?)" "p.(Ser2128Ile)" ""
"0001039284" "00023885" "50" "6334" "0" "6334" "0" "c.6334G>C" "r.(?)" "p.(Ala2112Pro)" ""
"0001039285" "00023885" "50" "5834" "0" "5834" "0" "c.5834C>G" "r.(?)" "p.(Pro1945Arg)" ""
"0001039286" "00023885" "30" "5386" "0" "5386" "0" "c.5386C>T" "r.(?)" "p.(Arg1796Trp)" ""
"0001039287" "00023885" "50" "5349" "0" "5349" "0" "c.5349C>A" "r.(?)" "p.(Asp1783Glu)" ""
"0001039288" "00023885" "50" "5125" "0" "5125" "0" "c.5125C>T" "r.(?)" "p.(Arg1709Cys)" ""
"0001039289" "00023885" "30" "4163" "0" "4163" "0" "c.4163G>T" "r.(?)" "p.(Arg1388Leu)" ""
"0001039290" "00023885" "30" "4031" "0" "4031" "0" "c.4031T>C" "r.(?)" "p.(Ile1344Thr)" ""
"0001039291" "00023885" "30" "4021" "-11" "4021" "-10" "c.4021-11_4021-10del" "r.(=)" "p.(=)" ""
"0001039292" "00023885" "30" "3122" "0" "3122" "0" "c.3122A>G" "r.(?)" "p.(Gln1041Arg)" ""
"0001039293" "00023885" "30" "1965" "0" "1965" "0" "c.1965C>A" "r.(?)" "p.(Pro655=)" ""
"0001039294" "00023885" "50" "1828" "0" "1828" "0" "c.1828C>G" "r.(?)" "p.(Pro610Ala)" ""
"0001039295" "00023885" "30" "1762" "0" "1762" "0" "c.1762T>C" "r.(?)" "p.(Ser588Pro)" ""
"0001039296" "00023885" "50" "1354" "0" "1354" "0" "c.1354C>T" "r.(?)" "p.(Pro452Ser)" ""
"0001039297" "00023885" "30" "793" "0" "793" "0" "c.793C>T" "r.(?)" "p.(Arg265Cys)" ""
"0001039298" "00023885" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(=)" ""
"0001039299" "00023885" "30" "-228" "0" "-228" "0" "c.-228C>T" "r.(?)" "p.(=)" ""
"0001039300" "00023885" "50" "-9238" "0" "-9238" "0" "c.-9238T>C" "r.(?)" "p.(=)" ""
"0001044600" "00023885" "70" "15921" "2" "15921" "2" "c.15921+2T>G" "r.spl?" "p.?" "50i"
"0001046379" "00023885" "50" "14690" "0" "14690" "0" "c.14690A>G" "r.(?)" "p.(Asn4897Ser)" ""
"0001046380" "00023885" "50" "12781" "0" "12781" "0" "c.12781C>G" "r.(?)" "p.(Pro4261Ala)" ""
"0001046381" "00023885" "30" "6235" "-6" "6235" "-6" "c.6235-6C>G" "r.(=)" "p.(=)" ""
"0001047021" "00023885" "70" "16164" "0" "16164" "0" "c.16164C>G" "r.(?)" "p.(Tyr5388*)" "52"
"0001047555" "00023885" "30" "7499" "0" "7499" "0" "c.7499C>T" "r.(?)" "p.(Ala2500Val)" ""
"0001048362" "00023885" "70" "1498" "0" "1498" "0" "c.1498G>T" "r.(?)" "p.(Glu500Ter)" ""
"0001054308" "00023885" "50" "19171" "0" "19171" "0" "c.*2557T>G" "r.(=)" "p.(=)" ""
"0001054309" "00023885" "50" "15973" "0" "15973" "0" "c.15973C>A" "r.(?)" "p.(Pro5325Thr)" ""
"0001054310" "00023885" "30" "14924" "0" "14924" "0" "c.14924G>A" "r.(?)" "p.(Arg4975His)" ""
"0001054311" "00023885" "50" "14684" "0" "14684" "0" "c.14684C>T" "r.(?)" "p.(Thr4895Ile)" ""
"0001054312" "00023885" "50" "14174" "0" "14174" "0" "c.14174T>C" "r.(?)" "p.(Leu4725Pro)" ""
"0001054313" "00023885" "30" "13780" "0" "13780" "0" "c.13780G>C" "r.(?)" "p.(Ala4594Pro)" ""
"0001054314" "00023885" "30" "13644" "0" "13644" "0" "c.13644C>T" "r.(?)" "p.(Ser4548=)" ""
"0001054315" "00023885" "30" "13432" "0" "13432" "0" "c.13432C>T" "r.(?)" "p.(Arg4478Trp)" ""
"0001054316" "00023885" "50" "12676" "0" "12678" "0" "c.12676_12678del" "r.(?)" "p.(Leu4226del)" ""
"0001054317" "00023885" "50" "12673" "0" "12673" "0" "c.12673C>G" "r.(?)" "p.(Leu4225Val)" ""
"0001054318" "00023885" "50" "12656" "0" "12656" "0" "c.12656A>C" "r.(?)" "p.(Gln4219Pro)" ""
"0001054319" "00023885" "30" "12534" "0" "12534" "0" "c.12534C>T" "r.(?)" "p.(=)" ""
"0001054320" "00023885" "50" "12214" "0" "12227" "0" "c.12214_12227delinsTGGGGCTGGGGTTGGACAAG" "r.(?)" "p.(Asp4072_Leu4076delinsTrpGlyTrpGlyTrpThrArg)" ""
"0001054321" "00023885" "50" "12160" "0" "12160" "0" "c.12160A>C" "r.(?)" "p.(Thr4054Pro)" ""
"0001054322" "00023885" "50" "11275" "0" "11275" "0" "c.11275C>G" "r.(?)" "p.(Gln3759Glu)" ""
"0001054323" "00023885" "50" "11195" "0" "11195" "0" "c.11195A>G" "r.(?)" "p.(Gln3732Arg)" ""
"0001054324" "00023885" "50" "10157" "0" "10157" "0" "c.10157C>T" "r.(?)" "p.(Pro3386Leu)" ""
"0001054325" "00023885" "50" "10106" "0" "10106" "0" "c.10106C>A" "r.(?)" "p.(Pro3369His)" ""
"0001054326" "00023885" "30" "10024" "0" "10024" "0" "c.10024C>T" "r.(?)" "p.(Arg3342Cys)" ""
"0001054327" "00023885" "50" "9914" "0" "9914" "0" "c.9914G>A" "r.(?)" "p.(Ser3305Asn)" ""
"0001054328" "00023885" "50" "9728" "0" "9728" "0" "c.9728G>C" "r.(?)" "p.(Ser3243Thr)" ""
"0001054329" "00023885" "50" "8386" "0" "8386" "0" "c.8386C>G" "r.(?)" "p.(Gln2796Glu)" ""
"0001054330" "00023885" "30" "7202" "0" "7202" "0" "c.7202G>A" "r.(?)" "p.(Arg2401His)" ""
"0001054331" "00023885" "50" "6983" "0" "6983" "0" "c.6983A>G" "r.(?)" "p.(Lys2328Arg)" ""
"0001054332" "00023885" "50" "6845" "0" "6845" "0" "c.6845G>A" "r.(?)" "p.(Arg2282Gln)" ""
"0001054333" "00023885" "50" "6337" "0" "6337" "0" "c.6337C>G" "r.(?)" "p.(Leu2113Val)" ""
"0001054334" "00023885" "50" "6283" "0" "6283" "0" "c.6283C>T" "r.(?)" "p.(Arg2095Cys)" ""
"0001054335" "00023885" "50" "6202" "0" "6202" "0" "c.6202C>T" "r.(?)" "p.(Arg2068Trp)" ""
"0001054336" "00023885" "50" "5353" "0" "5353" "0" "c.5353A>G" "r.(?)" "p.(Ser1785Gly)" ""
"0001054337" "00023885" "50" "5291" "0" "5291" "0" "c.5291T>G" "r.(?)" "p.(Leu1764Arg)" ""
"0001054338" "00023885" "50" "5242" "0" "5242" "0" "c.5242G>A" "r.(?)" "p.(Gly1748Arg)" ""
"0001054339" "00023885" "30" "4401" "0" "4401" "0" "c.4401C>T" "r.(?)" "p.(Gly1467=)" ""
"0001054340" "00023885" "30" "4131" "10" "4131" "18" "c.4131+10_4131+18del" "r.(=)" "p.(=)" ""
"0001054341" "00023885" "50" "3445" "0" "3445" "0" "c.3445A>G" "r.(?)" "p.(Lys1149Glu)" ""
"0001054342" "00023885" "30" "1797" "0" "1797" "0" "c.1797G>A" "r.(?)" "p.(Leu599=)" ""
"0001054343" "00023885" "50" "916" "0" "916" "0" "c.916C>G" "r.(?)" "p.(Pro306Ala)" ""
"0001058836" "00023885" "90" "8856" "0" "8856" "0" "c.8856del" "r.(?)" "p.(Lys2953ArgfsTer51)" ""
"0001058837" "00023885" "90" "11263" "0" "11263" "0" "c.11263C>T" "r.(?)" "p.(Gln3755Ter)" ""
"0001058838" "00023885" "90" "12039" "0" "12046" "0" "c.12039_12046del" "r.(?)" "p.(Ala4014SerfsTer23)" ""
"0001058839" "00023885" "90" "44" "0" "44" "0" "c.44C>T" "r.(?)" "p.(Pro15Leu)" ""
"0001058840" "00023885" "90" "11713" "0" "11713" "0" "c.11713C>T" "r.(?)" "p.(Gln3905Ter)" ""
"0001058841" "00023885" "90" "16294" "0" "16294" "0" "c.16294C>T" "p.R5432W" "p.(Arg5432Trp)" ""
"0001058842" "00023885" "90" "15163" "0" "15168" "0" "c.15163_15168dup" "r.(?)" "p.(Asp5055_Leu5056dup)" ""
"0001058905" "00023885" "90" "13326" "0" "13326" "0" "c.13326dup" "r.(?)" "p.(Pro4443ThrfsTer44)" ""
"0001062632" "00023885" "90" "11149" "0" "11149" "0" "c.11149C>T" "r.(?)" "p.(Gln3717Ter)" ""
"0001062633" "00023885" "90" "603" "0" "604" "0" "c.603_604dup" "r.(?)" "p.(Gly202AlafsTer7)" ""
"0001062634" "00023885" "90" "6613" "0" "6613" "0" "c.6613delinsAA" "r.(?)" "p.(Ala2205AsnfsTer38)" ""
"0001062635" "00023885" "90" "709" "0" "709" "0" "c.709del" "r.(?)" "p.(Glu237SerfsTer24)" ""
"0001062636" "00023885" "90" "8366" "0" "8366" "0" "c.8366G>A" "r.(?)" "p.(Arg2789Gln)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1124
"{{screeningid}}" "{{variantid}}"
"0000019608" "0000040033"
"0000019609" "0000040034"
"0000019610" "0000040035"
"0000019611" "0000040036"
"0000019612" "0000040037"
"0000019613" "0000040038"
"0000019614" "0000040039"
"0000019615" "0000040040"
"0000019616" "0000040041"
"0000019617" "0000040042"
"0000019618" "0000040043"
"0000019619" "0000040044"
"0000019620" "0000040045"
"0000019621" "0000040046"
"0000019622" "0000040047"
"0000019623" "0000040048"
"0000019624" "0000040049"
"0000019625" "0000040050"
"0000019626" "0000040051"
"0000019627" "0000040052"
"0000019628" "0000040053"
"0000019629" "0000040054"
"0000019630" "0000040055"
"0000019631" "0000040056"
"0000019632" "0000040057"
"0000019633" "0000040058"
"0000019634" "0000040059"
"0000019635" "0000040060"
"0000019636" "0000040061"
"0000019637" "0000040062"
"0000019638" "0000040063"
"0000019639" "0000040064"
"0000019640" "0000040065"
"0000019641" "0000040066"
"0000019642" "0000040067"
"0000019643" "0000040068"
"0000019644" "0000040069"
"0000019645" "0000040070"
"0000019646" "0000040071"
"0000019646" "0000040072"
"0000019647" "0000040073"
"0000019648" "0000040074"
"0000019649" "0000040075"
"0000019650" "0000040076"
"0000019651" "0000040077"
"0000019652" "0000040078"
"0000019653" "0000040079"
"0000019654" "0000040080"
"0000019654" "0000040112"
"0000019655" "0000040081"
"0000019656" "0000040082"
"0000019656" "0000040113"
"0000019657" "0000040083"
"0000019657" "0000040114"
"0000019658" "0000040084"
"0000019658" "0000040111"
"0000019660" "0000040086"
"0000019661" "0000040087"
"0000019661" "0000040110"
"0000019662" "0000040088"
"0000019663" "0000040089"
"0000019664" "0000040090"
"0000019665" "0000040091"
"0000019666" "0000040092"
"0000019667" "0000040093"
"0000019668" "0000040094"
"0000019669" "0000040095"
"0000019670" "0000040096"
"0000019671" "0000040097"
"0000019672" "0000040098"
"0000019673" "0000040099"
"0000019674" "0000040100"
"0000019675" "0000040101"
"0000019676" "0000040102"
"0000019677" "0000040103"
"0000019678" "0000040104"
"0000019679" "0000040105"
"0000019680" "0000040106"
"0000019681" "0000040107"
"0000019682" "0000040108"
"0000019683" "0000040109"
"0000036231" "0000063356"
"0000036232" "0000063357"
"0000036233" "0000063358"
"0000036234" "0000063359"
"0000036235" "0000063360"
"0000036236" "0000063361"
"0000036237" "0000063362"
"0000036238" "0000063363"
"0000036239" "0000063364"
"0000036240" "0000063365"
"0000036241" "0000063366"
"0000036242" "0000063367"
"0000036243" "0000063368"
"0000036244" "0000063369"
"0000036245" "0000063370"
"0000036246" "0000063371"
"0000036247" "0000063372"
"0000036248" "0000063373"
"0000036249" "0000063374"
"0000036250" "0000063375"
"0000036251" "0000063376"
"0000036252" "0000063377"
"0000036253" "0000063378"
"0000036254" "0000063379"
"0000036255" "0000063380"
"0000036256" "0000063381"
"0000036257" "0000063382"
"0000036258" "0000063383"
"0000036259" "0000063384"
"0000036260" "0000063385"
"0000036261" "0000063386"
"0000036262" "0000063387"
"0000036263" "0000063388"
"0000036264" "0000063389"
"0000036265" "0000063390"
"0000036266" "0000063391"
"0000036267" "0000063392"
"0000047994" "0000076780"
"0000047995" "0000076781"
"0000047996" "0000076782"
"0000050436" "0000079416"
"0000050471" "0000079670"
"0000056462" "0000086743"
"0000056463" "0000086744"
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