### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = CHD7) # 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}}" "CHD7" "chromodomain helicase DNA binding protein 7" "8" "q12.2" "unknown" "LRG_176" "UD_132118563328" "" "http://www.LOVD.nl/CHD7" "" "1" "20626" "55636" "608892" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/CHD7_codingDNA.html" "1" "" "" "-1" "" "-1" "00008" "2012-06-25 00:00:00" "00006" "2015-09-30 08:52:21" "00000" "2025-07-08 13:22:38" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000234" "CHD7" "chromodomain helicase DNA binding protein 7" "001" "NM_017780.3" "" "NP_060250.2" "" "" "" "-492" "11089" "8994" "61591324" "61780587" "00008" "2012-06-25 11:04:37" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 15 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00193" "CHARGE" "CHARGE syndrome" "AD" "214800" "" "" "" "00001" "2013-09-09 16:22:06" "00006" "2020-06-17 14:19:19" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00654" "HH5" "hypogonadism, hypogonadotropic, type 5 with/without anosmia (HH-5)" "AD" "612370" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04270" "epilepsy" "epilepsy" "" "" "" "" "" "00006" "2015-05-14 16:00:06" "00006" "2017-09-07 14:25:59" "05086" "HL" "hearing loss (HL)" "" "" "" "" "" "00006" "2015-10-23 11:41:05" "00006" "2015-10-23 11:43:00" "05103" "deafness" "deafness" "" "" "" "" "" "00006" "2015-12-02 12:30:46" "00006" "2017-08-25 19:47:08" "05162" "DD" "developmental delay (DD)" "" "" "" "" "" "00006" "2016-05-10 21:15:54" "00006" "2020-05-25 13:52:33" "05284" "ANI" "anosmia, isolated (ANI)" "" "" "" "" "" "00006" "2017-06-16 19:42:14" "" "" "05342" "CAKUT" "kidney and urinary tract, anomalies, congenital (CAKUT)" "" "" "" "" "" "00006" "2017-11-10 19:49:59" "00006" "2017-11-10 19:51:20" "05521" "seizures" "seizures" "" "" "" "" "" "00006" "2018-11-18 17:02:13" "" "" "05597" "DSD" "disorder of sex development (DSD)" "" "" "" "" "" "00006" "2019-04-28 14:45:24" "" "" "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" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "CHD7" "00139" "CHD7" "00193" "CHD7" "00654" ## Individuals ## Do not remove or alter this header ## ## Count = 90 "{{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}}" "00050698" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050709" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00051495" "" "" "" "1" "" "01399" "under review" "" "M" "no" "Australia" "" "0" "" "" "white" "" "00080856" "" "" "" "1" "" "01758" "{PMID:Trujillano 2017:27848944}" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00104945" "" "" "" "2" "" "02034" "" "" "-" "yes" "Israel" "" "0" "" "" "Jewish" "" "00104949" "" "" "" "1" "" "02034" "" "" "M" "?" "Israel" "" "0" "" "" "Jewish" "" "00210054" "" "" "" "1" "" "03121" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "M" "no" "" "" "0" "" "" "" "RP" "00231450" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat69" "00231453" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat73" "00231499" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat169" "00231533" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "M" "" "" "" "0" "" "" "" "Pat259" "00231560" "" "" "" "1" "" "00006" "{PMID:Eggers 2016:27899157}" "" "" "" "" "" "0" "" "" "" "Pat251" "00267237" "" "" "" "1" "" "03469" "" "" "" "" "" "" "0" "" "" "" "" "00294650" "" "" "" "12" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294651" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294652" "" "" "" "189" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00294653" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295325" "" "" "" "22" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00295448" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00302671" "" "" "" "1" "" "01164" "" "" "M" "" "Germany" "" "0" "" "" "" "" "00302979" "" "" "" "1" "" "00006" "{PMID:Helbig 2016:26795593}" "" "" "" "United States" "" "0" "" "" "" "Pat24" "00303637" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "Prenatal" "" "" "Belgium" "" "0" "" "" "" "Pat4" "00303638" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "" "" "" "Belgium" "" "0" "" "" "" "Pat5" "00303639" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "" "" "" "Belgium" "" "0" "" "" "" "Pat6" "00303640" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat3" "00303641" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat7" "00304128" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat2" "00304129" "" "" "" "1" "" "03698" "{PMID:Biard 2021:33662639}" "" "" "" "Belgium" "" "0" "" "" "" "Pat10" "00305200" "" "" "" "5" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00306201" "" "" "" "1" "" "03695" "" "" "M" "" "China" "" "" "" "" "" "99" "00306248" "" "" "" "1" "" "01807" "" "" "F" "" "" "" "0" "" "" "" "" "00307727" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411365" "00307728" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411541" "00307791" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "M" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411437" "00315036" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1154" "00315042" "" "" "" "1" "" "00006" "{PMID:Squeo 2020:32170002}" "analysis 263 cases chromatin-related disorder" "" "" "Italy" "" "0" "" "" "" "GDB1406" "00316112" "" "" "" "1" "" "00006" "{PMID:Heidet 2017:28566479}" "" "" "" "France" "" "0" "" "" "" "K160" "00324289" "" "" "" "1" "" "00006" "{PMID:Granadillo 2020:33184947}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "M" "no" "Mexico" "" "0" "" "" "Hispanic" "patient" "00328526" "" "" "" "1" "" "00000" "{PMID:Patel 2015:26426422}" "2-generation family, affectedsister/brother, unaffected parents" "F;M" "" "United States" "" "0" "" "" "Hispanic" "FamJSPat001/002" "00334297" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334302" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334308" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334314" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334325" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334360" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334375" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334403" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334405" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334406" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334479" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334485" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334487" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334842" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334845" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334848" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334854" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334857" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334918" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00334931" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335024" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00335026" "" "" "" "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" "" "" "" "" "" "" "00335043" "" "" "" "1" "" "04011" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "analysis 233 patients" "" "" "China" "" "" "" "" "" "" "00372516" "" "" "" "4" "" "00006" "{PMID:Chen 2015:26011067}" "3-generation family, 4 affected (3F, M), unaffected heterozygous carrier parents/relatives" "F;M" "" "China" "" "0" "" "" "Uyghur" "KS1" "00374246" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3110" "00374247" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3773" "00374689" "" "" "" "1" "" "00006" "{PMID:Ganapathy 2019:31069529}" "" "" "" "India" "" "0" "" "" "" "S-3306" "00377146" "" "" "" "1" "" "01807" "" "" "?" "" "" "" "0" "" "" "" "" "00391783" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "129P" "00415190" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "CHD7 family, proband" "F" "" "" "" "0" "" "" "Mexican" "3" "00415191" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "CHD7 family, proband\'s mother" "F" "" "" "" "0" "" "" "Mexican" "3\'s mother" "00415192" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "CHD7 family, proband\'s brother" "M" "" "" "" "0" "" "" "Mexican" "3\'s brother" "00415196" "" "" "" "1" "" "00000" "{PMID:Matias-Perez 2018:30181649}" "CHD7 proband 2, parental DNA not available" "F" "" "" "" "0" "" "" "Mexican" "6" "00416378" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "204770" "00419523" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "F" "" "Greece" "" "0" "" "" "" "8122" "00424970" "" "" "" "1" "" "00006" "{PMID:Biard 2021:33662639}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat1" "00424971" "" "" "" "1" "" "00006" "{PMID:Biard 2021:33662639}" "" "M" "" "Belgium" "" "0" "" "" "" "Pat8" "00424972" "" "" "" "1" "" "00006" "{PMID:Biard 2021:33662639}" "" "F" "" "Belgium" "" "0" "" "" "" "Pat9" "00428010" "" "" "" "1" "" "00006" "{PMID:Bournazos 2022:34906502}" "family, 1 affected" "" "" "Australia" "" "0" "" "" "" "A137" "00430229" "" "" "" "1" "" "04451" "" "" "M" "no" "China" "" "" "" "" "East Asia" "20D2602992" "00435239" "" "" "" "1" "" "01164" "" "" "F" "no" "Germany" "" "0" "" "" "" "260515" "00435364" "" "" "" "1" "" "01164" "" "" "M" "no" "Germany" "" "0" "" "" "" "232779" "00438302" "" "" "" "1" "" "00006" "{PMID:Chuan 2022:35571021}" "" "M" "" "China" "" "0" "" "" "" "Pat20" "00440395" "" "" "" "1" "" "00006" "{PMID:Nambot 2018:29095811}" "" "" "" "France" "" "0" "" "" "" "PED3005.1" "00449773" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00454674" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00455679" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00456088" "" "" "" "1" "" "03544" "" "" "F" "-" "- (not applicable)" "" "" "" "" "white" "" "00462291" "" "" "" "1" "" "00006" "{PMID:Boissel 2017:29261186}" "analysis 101 stillborn fetuses with severe prenatal anoalies" "" "" "Canada" "0d" "0" "" "" "" "CONGE-79" "00464285" "" "" "" "1" "" "01164" "" "prenatal trio exome at 20+5" "?" "no" "Germany" "" "0" "" "" "" "323529" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 90 "{{individualid}}" "{{diseaseid}}" "00050698" "00198" "00050709" "00198" "00051495" "00193" "00080856" "00193" "00104945" "05284" "00104949" "05284" "00210054" "00138" "00231450" "05597" "00231453" "05597" "00231499" "05597" "00231533" "05597" "00231560" "05597" "00267237" "00193" "00294650" "00198" "00294651" "00198" "00294652" "00198" "00294653" "00198" "00295325" "00198" "00295448" "00198" "00302671" "00198" "00302979" "05521" "00303637" "00193" "00303638" "00193" "00303639" "00193" "00303640" "00193" "00303641" "00193" "00304128" "00193" "00304129" "00193" "00305200" "00198" "00306201" "00193" "00306248" "00198" "00307727" "00139" "00307728" "00139" "00307791" "00139" "00315036" "00198" "00315042" "00198" "00316112" "05342" "00324289" "00193" "00328526" "05103" "00334297" "05793" "00334302" "05793" "00334308" "05793" "00334314" "05793" "00334325" "05793" "00334360" "05793" "00334375" "05793" "00334403" "05793" "00334405" "05793" "00334406" "05793" "00334479" "05793" "00334485" "05793" "00334487" "05793" "00334842" "05793" "00334845" "05793" "00334848" "05793" "00334854" "05793" "00334857" "05793" "00334918" "05793" "00334931" "05793" "00335024" "05793" "00335026" "05793" "00335030" "05793" "00335043" "05793" "00372516" "05086" "00374246" "00198" "00374247" "00198" "00374689" "00198" "00377146" "00198" "00391783" "00193" "00415190" "04214" "00415191" "04214" "00415192" "04214" "00415196" "04214" "00416378" "00193" "00419523" "00198" "00424970" "00193" "00424971" "00193" "00424972" "00193" "00428010" "00198" "00430229" "00654" "00435239" "00193" "00435364" "00193" "00438302" "04270" "00440395" "00198" "00449773" "00193" "00454674" "00193" "00455679" "05162" "00456088" "00193" "00462291" "00198" "00464285" "00193" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00138, 00139, 00193, 00198, 00654, 04214, 04270, 05086, 05103, 05162, 05284, 05342, 05521, 05597, 05793 ## Count = 76 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Vision/Coloboma}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Ball}}" "{{Phenotype/Fistula}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000037310" "00198" "00050698" "00006" "Isolated (sporadic)" "" "intellectual disability, membranous subvalvular aortic stenosis, cleft palate, patent ductus arteriosus, pierre-robin sequence" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037321" "00198" "00050709" "00006" "Isolated (sporadic)" "" "choanal atresia, bilateral conductive hearing impairment, pulmonary artery stenosis" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038107" "00198" "00051495" "01399" "Unknown" "" "prominent scapulae/shoulder girdle weakness, mild learning difficulties, subtle dysmorphic features including small ears and hockey stick palmar creases, aplasia of the superior semicircular canal bilaterally, dysplastic horizontal canals" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060425" "00193" "00080856" "01758" "Isolated (sporadic)" "" "CHARGE syndrome (OMIM:214800)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082944" "05284" "00104945" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000082945" "05284" "00104949" "02034" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000158628" "00138" "00210054" "03121" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000173841" "05597" "00231450" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173844" "05597" "00231453" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173890" "05597" "00231499" "00006" "Unknown" "" "disorder of sex development" "" "" "" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173924" "05597" "00231533" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000173951" "05597" "00231560" "00006" "Unknown" "" "hypospadias" "" "" "" "" "" "" "" "" "" "" "" "" "" "46,XY disorder of sex development" "" "0000206957" "00193" "00267237" "03469" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000229752" "00198" "00302671" "01164" "Unknown" "" "Abnormality of cerebral artery (HP:0009145); Hypoplastic aortic arch (HP:0012304); Defect in the atrial septum (HP:0001631); Cleft palate (HP:0000175); Patent ductus arteriosus (HP:0001643); Global developmental delay (HP:0001263)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000230062" "05521" "00302979" "00006" "Isolated (sporadic)" "" "Unclassified epilepsy; age onset childhood" "" "" "" "" "" "" "" "" "" "" "" "" "" "seizures" "" "0000230702" "00193" "00303638" "03698" "Unknown" "" "Abnormal heart morphology (HP:0001627) \r\nChoanal atresia (HP:0000453)\r\nAbnormality of brain morphology (HP:0012443) \r\nAbnormality of the face (HP:0000271) \r\nAbnormal ear morphology (HP:0031703)" "" "" "coloboma" "" "" "" "" "" "" "" "" "" "" "" "" "0000230703" "00193" "00303639" "03698" "Unknown" "" "Abnormal heart morphology (HP:0001627) \r\nChoanal atresia (HP:0000453)\r\nIntrauterine growth retardation (HP:0001511) \r\nAbnormality of brain morphology (HP:0012443) \r\nAbnormality of the face (HP:0000271) \r\nAbnormal ear morphology (HP:0031703)\r\nPolyhydramnios (HP:0001561)" "" "?" "" "" "" "" "" "" "" "" "n/a" "" "" "" "" "0000230704" "00193" "00303637" "03698" "Unknown" "" "Choanal atresia (HP:0000453)\r\nAbnormality of the face (HP:0000271) \r\nOral cleft (HP:0000202)\r\nAbnormal ear morphology (HP:0031703)" "" "oral" "?" "" "" "" "" "" "" "" "" "" "" "" "" "0000230705" "00193" "00303640" "03698" "Unknown" "" "Abnormal heart morphology (HP:0001627) \r\nChoanal atresia (HP:0000453)\r\nAbnormality of the genital system (HP:0000078) \r\nAbnormality of the kidney (HP:0000077) \r\nAbnormality of the face (HP:0000271) \r\nAbnormal ear morphology (HP:0031703)" "" "" "nr" "" "" "" "" "" "" "" "" "" "" "" "" "0000231190" "00193" "00303641" "03698" "Unknown" "" "Abnormal heart morphology (HP:0001627) \r\nAbnormality of the face (HP:0000271) \r\nAbnormal ear morphology (HP:0031703)\r\nPolyhydramnios (HP:0001561)" "" "" "coloboma" "" "" "" "" "" "" "" "" "" "" "" "" "0000231191" "00193" "00304128" "03698" "Unknown" "" "Abnormal heart morphology (HP:0001627) \r\nAbnormality of the genital system (HP:0000078) \r\nAbnormality of the face (HP:0000271) \r\nAbnormal ear morphology (HP:0031703)\r\nPolyhydramnios (HP:0001561)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000231192" "00193" "00304129" "03698" "Unknown" "" "Abnormal heart morphology (HP:0001627) \r\nChoanal atresia (HP:0000453)\r\nAbnormality of the face (HP:0000271) \r\nAbnormal ear morphology (HP:0031703)\r\nPolyhydramnios (HP:0001561)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232049" "00193" "00306201" "03695" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000232094" "00198" "00306248" "01807" "Unknown" "" "Cleft palate (HP:0000175); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Postnatal microcephaly (HP:0005484); Visual impairment (HP:0000505); Hearing impairment (HP:0000365)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000238788" "00198" "00315036" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" "" "0000238794" "00198" "00315042" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "Kabuki syndrome" "chromatinopathy" "" "0000239859" "05342" "00316112" "00006" "Unknown" "" "unilateral kidney agenesis; deafness, branchial defect, colobomatous microphtalmia" "" "" "" "" "" "" "" "" "" "" "" "" "" "unilateral kidney agenesis" "" "0000242858" "00193" "00324289" "00006" "Isolated (sporadic)" "07y" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE" "global developmental delay, multiple congenital anomalies" "" "0000246753" "05103" "00328526" "00000" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "DFNB48" "hearing loss" "" "0000253107" "05793" "00334297" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253112" "05793" "00334302" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253118" "05793" "00334308" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253124" "05793" "00334314" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253135" "05793" "00334325" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253155" "05793" "00334360" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253169" "05793" "00334375" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253186" "05793" "00334403" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253188" "05793" "00334405" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253189" "05793" "00334406" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253192" "05793" "00334479" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253198" "05793" "00334485" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253200" "05793" "00334487" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253239" "05793" "00334842" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253242" "05793" "00334845" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253245" "05793" "00334848" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253251" "05793" "00334854" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253254" "05793" "00334857" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253273" "05793" "00334918" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253279" "05793" "00334931" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253306" "05793" "00335024" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253308" "05793" "00335026" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253312" "05793" "00335030" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000253325" "05793" "00335043" "04011" "Unknown" "" "hospitalized after COVID-19 infection," "" "" "" "" "" "" "" "" "" "" "" "" "" "COVID-19" "" "0000267831" "05086" "00372516" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "" "" "" "" "" "hearing loss" "" "0000269456" "00198" "00374246" "00006" "Familial, autosomal dominant" "" "Features suggestive of CHARGE syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE syndrome" "" "0000269457" "00198" "00374247" "00006" "Familial, autosomal dominant" "" "Features suggestive of CHARGE syndrome" "" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE syndrome" "" "0000269899" "00198" "00374689" "00006" "Familial, autosomal dominant" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "developmental delay" "" "0000272310" "00198" "00377146" "01807" "Unknown" "" "Abnormality of prenatal development or birth (HP:0001197); Ventricular septal defect (HP:0001629); Abnormal cardiac ventricle morphology (HP:0001713); Tricuspid regurgitation (HP:0005180); Increased nuchal translucency (HP:0010880)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000306988" "04214" "00415190" "00000" "Familial, autosomal dominant" "24y" "microphthalmia right eye; anophthalmia left eye" "" "" "" "" "" "" "" "" "" "" "" "" "microphthalmia and anophthalmia" "" "" "0000306989" "04214" "00415191" "00000" "Familial, autosomal dominant" "" "unaffected (asymptomatic?)" "" "" "" "" "" "" "" "" "" "" "" "" "microphthalmia and anophthalmia" "" "" "0000306990" "04214" "00415192" "00000" "Familial, autosomal dominant" "9y" "microphthalmia right eye" "" "" "" "" "" "" "" "" "" "" "" "" "microphthalmia and anophthalmia" "" "" "0000306994" "04214" "00415196" "00000" "Isolated (sporadic)" "5y" "bilateral microphthalmia" "" "" "" "" "" "" "" "" "" "" "" "" "microphthalmia" "" "" "0000308143" "00193" "00416378" "01164" "Isolated (sporadic)" "" "Abnormal fetal cardiovascular morphology, Hypoplastic left heart, Aortic valve stenosis, Congenital malformation of the left heart, Abnormal fetal morphology" "" "?" "nr" "" "" "" "" "" "" "" "?" "?" "" "prenatal ultra-sound" "" "0000310804" "00198" "00419523" "02300" "Isolated (sporadic)" "4y" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "congenital/syndromic abnormality" "" "0000318956" "00198" "00428010" "00006" "Familial, autosomal dominant" "3y" "" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE syndrome" "" "" "0000321037" "00654" "00430229" "04451" "Isolated (sporadic)" "20" "Micropenis; cleft lip/palate; hearing loss; testicular hypotrophy; aplasia of bilateral olfactory-bulb" "" "" "" "" "" "" "" "" "" "" "" "" "" "Hypogonadotropic hypogonadism without anosmia" "" "0000325436" "00193" "00435239" "01164" "Isolated (sporadic)" "02y" "Intellectual disability, mild, Hip dysplasia, Macrocephaly, Gait disturbance, Motor delay, Delayed speech and language development" "" "?" "nr" "" "" "" "" "" "" "" "?" "?" "" "" "" "0000325558" "00193" "00435364" "01164" "Isolated (sporadic)" "01y" "Abnormality of the genitourinary system, Prelingual sensorineural hearing impairment, Preaxial hand polydactyly, Global developmental delay, Plagiocephaly, Atrial septal defect, Cranial nerve paralysis, Infantile muscular hypotonia" "" "?" "nr" "" "" "" "" "" "" "" "?" "?" "" "" "" "0000328206" "04270" "00438302" "00006" "Isolated (sporadic)" "" "HP:0001250 seizures; HP:0000364 hearing abnormality; HP:0001626 abnormality of the cardiovascular system" "8y" "" "" "" "" "" "" "" "" "" "" "" "" "epilepsy" "" "0000330305" "00198" "00440395" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE syndrome (MIM #214800)" "" "" "0000338918" "00193" "00449773" "03544" "Isolated (sporadic)" "" "HP:0000453, HP:0001627" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE" "" "" "0000343306" "00193" "00454674" "03544" "Isolated (sporadic)" "" "HP:0000104, HP:0001508, HP:0000271, HP:0004484" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE SYNDROME" "CHARGE SYNDROME" "" "0000344212" "05162" "00455679" "03544" "Isolated (sporadic)" "" "HP:0000365, HP:0001263, HP:0000271" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE SYNDROME" "neurodevelopmental disorder" "" "0000344618" "00193" "00456088" "03544" "Isolated (sporadic)" "" "HP:0200138, HP:0009603, HP:0000377, HP:0001643, HP:0012020, HP:0002901, HP:0010515" "" "" "" "" "" "" "" "" "" "" "" "" "CHARGE SYNDROME" "complex neurodevelopmental disorder" "" "0000349790" "00198" "00462291" "00006" "Isolated (sporadic)" "" "20gw-persistence left superior vena cava, left heart hypoplasia, right lung with two lobes, type A esophageal atresia; vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, limb abnormalities" "" "" "" "" "" "" "" "" "" "" "" "" "" "VACTERL" "" "0000350347" "00193" "00464285" "01164" "Isolated (sporadic)" "20+5" "Cleft lip and palate in prenatal sonography" "" "lip/palate median;oral;palate" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 90 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000050643" "00050698" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050654" "00050709" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000051440" "00051495" "1" "01399" "00006" "2015-09-30 08:47:32" "00006" "2015-09-30 08:51:35" "SEQ" "DNA" "" "" "0000080968" "00080856" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000105420" "00104945" "1" "02034" "02034" "2017-06-13 05:23:51" "" "" "SEQ-NG-I" "DNA" "" "" "0000105424" "00104949" "1" "02034" "02034" "2017-06-13 05:50:00" "" "" "SEQ-NG-IT" "DNA" "" "" "0000211113" "00210054" "1" "03121" "03121" "2018-12-26 04:21:06" "" "" "SEQ-NG" "DNA" "Buccal" "WES" "0000232549" "00231450" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232552" "00231453" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232598" "00231499" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232632" "00231533" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000232659" "00231560" "1" "00006" "00006" "2019-05-03 12:21:09" "" "" "SEQ-NG" "DNA" "" "1031 gene panel" "0000268366" "00267237" "1" "03469" "03469" "2019-11-03 03:13:39" "" "" "SEQ-NG" "DNA" "" "" "0000295818" "00294650" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295819" "00294651" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295820" "00294652" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000295821" "00294653" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296493" "00295325" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000296616" "00295448" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000303796" "00302671" "1" "01164" "01164" "2020-05-27 17:19:02" "" "" "SEQ-NG-S" "DNA" "" "" "0000304104" "00302979" "1" "00006" "00006" "2020-06-05 14:08:27" "" "" "SEQ-NG" "DNA" "" "WES" "0000304765" "00303637" "1" "03698" "03698" "2020-06-17 13:46:50" "" "" "SEQ" "DNA" "" "" "0000304766" "00303638" "1" "03698" "03698" "2020-06-17 14:23:17" "" "" "SEQ" "DNA" "" "" "0000304767" "00303639" "1" "03698" "03698" "2020-06-17 14:31:15" "" "" "SEQ" "DNA" "" "" "0000304768" "00303640" "1" "03698" "03698" "2020-06-17 15:44:52" "" "" "SEQ" "DNA" "" "" "0000305256" "00303641" "1" "03698" "03698" "2020-06-24 11:11:03" "" "" "SEQ" "DNA" "" "" "0000305257" "00304128" "1" "03698" "03698" "2020-06-24 11:29:04" "" "" "SEQ" "DNA" "" "" "0000305258" "00304129" "1" "03698" "03698" "2020-06-24 11:42:46" "" "" "SEQ-NG" "DNA" "" "" "0000306329" "00305200" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000307335" "00306201" "1" "03695" "03695" "2020-07-11 07:59:20" "" "" "SEQ-NG" "DNA" "" "" "0000307384" "00306248" "1" "01807" "01807" "2020-07-13 13:18:01" "" "" "SEQ" "DNA" "" "" "0000308867" "00307727" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308868" "00307728" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000308931" "00307791" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000316212" "00315036" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000316218" "00315042" "1" "00006" "00006" "2020-10-24 17:31:22" "" "" "SEQ;SEQ-NG" "DNA" "" "68-gene panel" "0000317294" "00316112" "1" "00006" "00006" "2020-11-02 19:29:22" "" "" "SEQ;SEQ-NG" "DNA" "" "330-gene panel" "0000325479" "00324289" "1" "00006" "00006" "2020-12-04 13:57:43" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS, methylation array" "0000329741" "00328526" "1" "00000" "00006" "2021-01-28 17:32:21" "" "" "SEQ-NG" "DNA" "" "WES" "0000335524" "00334297" "1" "04011" "04011" "2021-02-27 05:38:13" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335529" "00334302" "1" "04011" "04011" "2021-02-27 06:26:24" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335536" "00334308" "1" "04011" "04011" "2021-02-27 07:10:51" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335542" "00334314" "1" "04011" "04011" "2021-02-27 07:41:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335553" "00334325" "1" "04011" "04011" "2021-02-27 14:33:44" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335588" "00334360" "1" "04011" "04011" "2021-02-28 05:13:23" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335603" "00334375" "1" "04011" "04011" "2021-02-28 10:07:10" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335632" "00334403" "1" "04011" "04011" "2021-02-28 13:55:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335634" "00334405" "1" "04011" "04011" "2021-02-28 14:06:29" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335635" "00334406" "1" "04011" "04011" "2021-02-28 14:52:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335708" "00334479" "1" "04011" "04011" "2021-03-01 02:59:38" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335714" "00334485" "1" "04011" "04011" "2021-03-01 04:52:11" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000335716" "00334487" "1" "04011" "04011" "2021-03-01 04:59:43" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336071" "00334842" "1" "04011" "04011" "2021-03-02 01:47:14" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336074" "00334845" "1" "04011" "04011" "2021-03-02 02:04:55" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336077" "00334848" "1" "04011" "04011" "2021-03-02 03:07:30" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336083" "00334854" "1" "04011" "04011" "2021-03-02 05:12:32" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336086" "00334857" "1" "04011" "04011" "2021-03-02 06:11:54" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336148" "00334918" "1" "04011" "04011" "2021-03-02 13:22:00" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336161" "00334931" "1" "04011" "04011" "2021-03-02 13:43:47" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336253" "00335024" "1" "04011" "04011" "2021-03-03 03:47:07" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000336255" "00335026" "1" "04011" "04011" "2021-03-03 03:58:18" "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" "0000336272" "00335043" "1" "04011" "04011" "2021-03-03 06:44:39" "00006" "2021-03-05 11:31:40" "SEQ-NG" "DNA" "PBMC" "WES" "0000373749" "00372516" "1" "00006" "00006" "2021-05-08 11:07:48" "" "" "SEQ" "DNA" "" "" "0000375440" "00374246" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375441" "00374247" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000375883" "00374689" "1" "00006" "00006" "2021-05-24 20:06:48" "" "" "SEQ-NG" "DNA" "" "TruSight One panel" "0000378351" "00377146" "1" "01807" "01807" "2021-07-12 10:06:01" "" "" "SEQ" "DNA" "" "" "0000393026" "00391783" "1" "02494" "02494" "2021-11-19 09:46:09" "" "" "SEQ-NG" "DNA" "" "WES" "0000416472" "00415190" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416473" "00415191" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416474" "00415192" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000416478" "00415196" "1" "00000" "03840" "2022-08-09 21:02:14" "" "" "SEQ-NG;SEQ" "DNA" "blood" "" "0000417658" "00416378" "1" "01164" "01164" "2022-08-29 10:31:29" "" "" "SEQ-NG-I" "DNA" "" "" "0000420827" "00419523" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "clinical exome sequencing" "0000426290" "00424970" "1" "00006" "00006" "2022-11-24 10:06:17" "" "" "SEQ" "DNA" "" "" "0000426291" "00424971" "1" "00006" "00006" "2022-11-24 10:08:19" "" "" "SEQ" "DNA" "" "" "0000426292" "00424972" "1" "00006" "00006" "2022-11-24 10:09:37" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000429423" "00428010" "1" "00006" "00006" "2022-12-19 13:11:26" "" "" "RT-PCR;SEQ;SEQ-NG-RNA" "DNA;RNA" "whole blood" "trio WES" "0000431643" "00430229" "1" "04451" "04451" "2023-01-16 07:07:42" "" "" "SEQ-NG" "DNA" "Peripheral venous blood" "" "0000436718" "00435239" "1" "01164" "01164" "2023-06-20 17:41:21" "" "" "SEQ-NG-I" "DNA" "" "" "0000436844" "00435364" "1" "01164" "01164" "2023-07-20 17:29:58" "" "" "SEQ-NG-I" "DNA" "Blood" "" "0000439784" "00438302" "1" "00006" "00006" "2023-10-20 19:13:42" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000441880" "00440395" "1" "00006" "00006" "2023-11-02 14:36:08" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000451367" "00449773" "1" "03544" "03544" "2024-05-15 06:49:44" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000456287" "00454674" "1" "03544" "03544" "2024-09-24 14:14:09" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000457293" "00455679" "1" "03544" "03544" "2024-10-15 08:33:48" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "CES" "0000457716" "00456088" "1" "03544" "03544" "2024-10-23 09:38:41" "" "" "SEQ-NG-I" "DNA" "peripheral blood" "WES" "0000463923" "00462291" "1" "00006" "00006" "2025-02-09 09:45:32" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000465916" "00464285" "1" "01164" "01164" "2025-02-28 09:50:23" "" "" "SEQ-NG-I" "DNA" "amniotic fluid" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 44 "{{screeningid}}" "{{geneid}}" "0000050643" "CHD7" "0000050654" "CHD7" "0000051440" "CHD7" "0000080968" "CHD7" "0000232549" "CHD7" "0000232552" "CHD7" "0000232598" "CHD7" "0000232632" "CHD7" "0000232659" "CHD7" "0000232659" "DHH" "0000268366" "CHD7" "0000304104" "CHD7" "0000304765" "CHD7" "0000304766" "CHD7" "0000304767" "CHD7" "0000304768" "CHD7" "0000305256" "CHD7" "0000305257" "CHD7" "0000305258" "CHD7" "0000307335" "CHD7" "0000308867" "CHD7" "0000308868" "CHD7" "0000308931" "CHD7" "0000316212" "CHD7" "0000316218" "CHD7" "0000317294" "CDC5L" "0000317294" "CHD7" "0000329741" "CIB2" "0000373749" "MYO15A" "0000375440" "CHD7" "0000375441" "CHD7" "0000375883" "CHD7" "0000416472" "CHD7" "0000416473" "CHD7" "0000416474" "CHD7" "0000416478" "CHD7" "0000417658" "CHD7" "0000426290" "CHD7" "0000426291" "CHD7" "0000426292" "CHD7" "0000431643" "CHD7" "0000436718" "CHD7" "0000436844" "CHD7" "0000465916" "CHD7" ## 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 = 790 "{{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}}" "0000079623" "0" "90" "8" "61647493" "61655749" "del" "0" "00006" "CHD7_000003" "g.61647493_61655749del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.60734934_60743190del" "" "pathogenic" "" "0000079634" "0" "90" "8" "61732609" "61732609" "subst" "0" "00006" "CHD7_000002" "g.61732609G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.60820050G>A" "" "pathogenic" "" "0000080489" "0" "90" "8" "61741241" "61741241" "subst" "0" "01399" "CHD7_000001" "g.61741241C>T" "" "under review" "" "" "" "Unknown" "" "" "0" "" "" "g.60828682C>T" "" "pathogenic" "" "0000080527" "11" "90" "8" "61714157" "61714157" "subst" "0" "01403" "CHD7_000004" "g.61714157G>C" "" "" "" "127819G>C" "" "Germline" "" "" "0" "" "" "g.60801598G>C" "" "pathogenic" "" "0000130054" "0" "90" "8" "61735063" "61735063" "subst" "0" "01758" "CHD7_000005" "g.61735063C>T" "" "{PMID:Trujillano 2017:27848944}" "" "" "" "De novo" "" "" "0" "" "" "g.60822504C>T" "" "pathogenic" "ACMG" "0000170840" "0" "50" "8" "61777914" "61777914" "subst" "0.00118946" "02034" "CHD7_000006" "g.61777914C>G" "" "" "" "" "" "Germline" "yes" "rs45521933" "0" "" "" "g.60865355C>G" "" "VUS" "" "0000170844" "0" "50" "8" "61742971" "61742971" "subst" "5.28039E-5" "02034" "CHD7_000007" "g.61742971A>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "g.60830412A>G" "" "VUS" "" "0000248607" "0" "10" "8" "61769429" "61769429" "subst" "0.00120131" "02325" "CHD7_000087" "g.61769429A>G" "" "" "" "CHD7(NM_017780.4):c.7590A>G (p.K2530=, p.(Lys2530=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856870A>G" "" "benign" "" "0000249803" "0" "50" "8" "61754457" "61754457" "subst" "0" "02325" "CHD7_000247" "g.61754457A>G" "" "" "" "CHD7(NM_017780.4):c.4696A>G (p.S1566G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60841898A>G" "" "VUS" "" "0000249829" "0" "50" "8" "61754608" "61754608" "subst" "0" "02325" "CHD7_000249" "g.61754608A>G" "" "" "" "CHD7(NM_017780.3):c.4847A>G (p.(Tyr1616Cys)), CHD7(NM_017780.4):c.4847A>G (p.Y1616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60842049A>G" "" "VUS" "" "0000250697" "0" "10" "8" "61655009" "61655009" "subst" "0.00462147" "02326" "CHD7_000018" "g.61655009A>G" "" "" "" "CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742450A>G" "" "benign" "" "0000253049" "0" "30" "8" "61655009" "61655009" "subst" "0.00462147" "01943" "CHD7_000018" "g.61655009A>G" "" "" "" "CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742450A>G" "" "likely benign" "" "0000253455" "0" "10" "8" "61655170" "61655170" "subst" "0.000362334" "01943" "CHD7_000019" "g.61655170A>G" "" "" "" "CHD7(NM_017780.2):c.1179A>G (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742611A>G" "" "benign" "" "0000253456" "0" "10" "8" "61769195" "61769195" "subst" "0.0461982" "01943" "CHD7_000084" "g.61769195A>G" "" "" "" "CHD7(NM_017780.2):c.7356A>G (p.T2452=), CHD7(NM_017780.3):c.7356A>G (p.(=)), CHD7(NM_017780.4):c.7356A>G (p.T2452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856636A>G" "" "benign" "" "0000253822" "0" "10" "8" "61732675" "61732675" "subst" "0.000234784" "01943" "CHD7_000048" "g.61732675A>G" "" "" "" "CHD7(NM_017780.2):c.2697+26A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60820116A>G" "" "benign" "" "0000253823" "0" "10" "8" "61749317" "61749317" "del" "0" "01943" "CHD7_000064" "g.61749317del" "" "" "" "CHD7(NM_017780.2):c.3990-59delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836758del" "" "benign" "" "0000254425" "0" "30" "8" "61765566" "61765566" "subst" "0.00427507" "01943" "CHD7_000217" "g.61765566A>G" "" "" "" "CHD7(NM_017780.2):c.6282A>G (p.G2094=), CHD7(NM_017780.4):c.6282A>G (p.G2094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853007A>G" "" "likely benign" "" "0000254718" "0" "30" "8" "61754481" "61754481" "subst" "2.06733E-5" "01943" "CHD7_000248" "g.61754481A>T" "" "" "" "CHD7(NM_017780.2):c.4720A>T (p.M1574L), CHD7(NM_017780.3):c.4720A>T (p.(Met1574Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60841922A>T" "" "likely benign" "" "0000254726" "0" "30" "8" "61769418" "61769418" "subst" "0.00203629" "01943" "CHD7_000086" "g.61769418A>C" "" "" "" "CHD7(NM_017780.2):c.7579A>C (p.M2527L), CHD7(NM_017780.4):c.7579A>C (p.M2527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856859A>C" "" "likely benign" "" "0000255430" "0" "90" "8" "61766030" "61766030" "del" "0" "01943" "CHD7_000075" "g.61766030del" "" "" "" "CHD7(NM_017780.2):c.6746delA (p.D2249Vfs*28)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853471del" "" "pathogenic" "" "0000255431" "0" "90" "8" "61773623" "61773623" "del" "0" "01943" "CHD7_000088" "g.61773623del" "" "" "" "CHD7(NM_017780.2):c.7769delA (p.D2590Vfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60861064del" "" "pathogenic" "" "0000255578" "0" "90" "8" "61735304" "61735304" "subst" "0" "01943" "CHD7_000055" "g.61735304A>G" "" "" "" "CHD7(NM_017780.2):c.3200A>G (p.Q1067R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822745A>G" "" "pathogenic" "" "0000266759" "0" "30" "8" "61655388" "61655388" "subst" "0.00101723" "02325" "CHD7_000025" "g.61655388C>T" "" "" "" "CHD7(NM_017780.2):c.1397C>T (p.S466L), CHD7(NM_017780.3):c.1397C>T (p.(Ser466Leu)), CHD7(NM_017780.4):c.1397C>T (p.S466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742829C>T" "" "likely benign" "" "0000266761" "0" "10" "8" "61707678" "61707678" "subst" "0.00102133" "02325" "CHD7_000038" "g.61707678G>A" "" "" "" "CHD7(NM_017780.4):c.2230G>A (p.G744S, p.(Gly744Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795119G>A" "" "benign" "" "0000266762" "0" "10" "8" "61765762" "61765762" "subst" "0.00103786" "02325" "CHD7_000069" "g.61765762G>A" "" "" "" "CHD7(NM_017780.4):c.6478G>A (p.A2160T, p.(Ala2160Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853203G>A" "" "benign" "" "0000268109" "0" "50" "8" "61757451" "61757451" "subst" "4.10948E-6" "02329" "CHD7_000250" "g.61757451C>T" "" "" "" "CHD7(NM_017780.4):c.4879C>T (p.H1627Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60844892C>T" "" "VUS" "" "0000270145" "0" "10" "8" "61654298" "61654298" "subst" "0.0122814" "02326" "CHD7_000011" "g.61654298T>A" "" "" "" "CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741739T>A" "" "benign" "" "0000270146" "0" "10" "8" "61765273" "61765273" "subst" "0.0663851" "02326" "CHD7_000212" "g.61765273C>T" "" "" "" "CHD7(NM_017780.2):c.6103+8C>T, CHD7(NM_017780.4):c.6103+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852714C>T" "" "benign" "" "0000270147" "0" "10" "8" "61778448" "61778448" "subst" "0.00400104" "02326" "CHD7_000095" "g.61778448C>T" "" "" "" "CHD7(NM_001316690.1):c.2803C>T (p.(Leu935Phe)), CHD7(NM_017780.2):c.8950C>T (p.L2984F), CHD7(NM_017780.4):c.8950C>T (p.L2984F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865889C>T" "" "benign" "" "0000273447" "0" "90" "8" "61654995" "61654995" "del" "0" "01943" "CHD7_000017" "g.61654995del" "" "" "" "CHD7(NM_017780.2):c.1004delC (p.T335Kfs*6)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742436del" "" "pathogenic" "" "0000273448" "0" "90" "8" "61655238" "61655238" "dup" "0" "01943" "CHD7_000021" "g.61655238dup" "" "" "" "CHD7(NM_017780.2):c.1247dupG (p.S417Kfs*158)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742679dup" "" "pathogenic" "" "0000273449" "0" "50" "8" "61655273" "61655273" "subst" "0" "01943" "CHD7_000022" "g.61655273C>T" "" "" "" "CHD7(NM_017780.2):c.1282C>T (p.P428S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742714C>T" "" "VUS" "" "0000273450" "0" "90" "8" "61655384" "61655384" "del" "0" "01943" "CHD7_000024" "g.61655384del" "" "" "" "CHD7(NM_017780.2):c.1393delT (p.S465Pfs*7)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742825del" "" "pathogenic" "" "0000273451" "0" "30" "8" "61655410" "61655410" "subst" "0.00189723" "01943" "CHD7_000026" "g.61655410G>C" "" "" "" "CHD7(NM_017780.2):c.1419G>C (p.G473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742851G>C" "" "likely benign" "" "0000273452" "0" "30" "8" "61654132" "61654132" "subst" "0" "01943" "CHD7_000009" "g.61654132T>C" "" "" "" "CHD7(NM_017780.2):c.141T>C (p.F47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741573T>C" "" "likely benign" "" "0000273453" "0" "10" "8" "61655556" "61655556" "subst" "0.00257243" "01943" "CHD7_000027" "g.61655556G>T" "" "" "" "CHD7(NM_017780.2):c.1565G>T (p.G522V), CHD7(NM_017780.4):c.1565G>T (p.G522V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742997G>T" "" "benign" "" "0000273454" "0" "90" "8" "61693701" "61693701" "dup" "0" "01943" "CHD7_000028" "g.61693701dup" "" "" "" "CHD7(NM_017780.2):c.1808dupA (p.N603Kfs*11)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781142dup" "" "pathogenic" "" "0000273455" "0" "30" "8" "61693716" "61693716" "subst" "0" "01943" "CHD7_000029" "g.61693716C>G" "" "" "" "CHD7(NM_017780.2):c.1823C>G (p.A608G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781157C>G" "" "likely benign" "" "0000273456" "0" "90" "8" "61693721" "61693721" "dup" "0" "01943" "CHD7_000030" "g.61693721dup" "" "" "" "CHD7(NM_017780.2):c.1828dupG (p.D610Gfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781162dup" "" "pathogenic" "" "0000273458" "0" "10" "8" "61694010" "61694010" "dup" "0" "01943" "CHD7_000034" "g.61694010dup" "" "" "" "CHD7(NM_017780.2):c.2096+21dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781451dup" "" "benign" "" "0000273459" "0" "90" "8" "61707630" "61707630" "del" "0" "01943" "CHD7_000036" "g.61707630del" "" "" "" "CHD7(NM_017780.2):c.2182delG (p.D728Tfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795071del" "" "pathogenic" "" "0000273460" "0" "50" "8" "61707666" "61707666" "subst" "4.06881E-6" "01943" "CHD7_000037" "g.61707666G>A" "" "" "" "CHD7(NM_017780.2):c.2218G>A (p.D740N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795107G>A" "" "VUS" "" "0000273461" "0" "90" "8" "61707687" "61707687" "subst" "0" "01943" "CHD7_000039" "g.61707687G>A" "" "" "" "CHD7(NM_017780.2):c.2238+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795128G>A" "" "pathogenic" "" "0000273463" "0" "10" "8" "61714084" "61714084" "dup" "0" "01943" "CHD7_000041" "g.61714084dup" "" "" "" "CHD7(NM_017780.2):c.2377-3dupT, CHD7(NM_017780.3):c.2377-3dupT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60801525dup" "" "benign" "" "0000273464" "0" "50" "8" "61654248" "61654248" "subst" "4.06375E-6" "01943" "CHD7_000010" "g.61654248C>T" "" "" "" "CHD7(NM_017780.2):c.257C>T (p.P86L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741689C>T" "" "VUS" "" "0000273465" "0" "10" "8" "61732552" "61732552" "del" "0" "01943" "CHD7_000045" "g.61732552del" "" "" "" "CHD7(NM_017780.2):c.2614-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60819993del" "" "benign" "" "0000273466" "0" "90" "8" "61732595" "61732595" "subst" "0" "01943" "CHD7_000046" "g.61732595T>A" "" "" "" "CHD7(NM_017780.2):c.2643T>A (p.Y881*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60820036T>A" "" "pathogenic" "" "0000273467" "0" "10" "8" "61734225" "61734226" "del" "0" "01943" "CHD7_000049" "g.61734225_61734226del" "" "" "" "CHD7(NM_017780.2):c.2698-124_2698-123delAT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60821666_60821667del" "" "benign" "" "0000273468" "0" "30" "8" "61734402" "61734402" "subst" "0.000331232" "01943" "CHD7_000050" "g.61734402G>A" "" "" "" "CHD7(NM_017780.2):c.2751G>A (p.T917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60821843G>A" "" "likely benign" "" "0000273469" "0" "30" "8" "61654298" "61654298" "subst" "0.0122814" "01943" "CHD7_000011" "g.61654298T>A" "" "" "" "CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741739T>A" "" "likely benign" "" "0000273470" "0" "90" "8" "61735217" "61735217" "subst" "0" "01943" "CHD7_000053" "g.61735217G>A" "" "" "" "CHD7(NM_017780.2):c.3113G>A (p.W1038*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822658G>A" "" "pathogenic" "" "0000273471" "0" "90" "8" "61735303" "61735303" "del" "0" "01943" "CHD7_000054" "g.61735303del" "" "" "" "CHD7(NM_017780.2):c.3199delC (p.Q1067Rfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822744del" "" "pathogenic" "" "0000273472" "0" "10" "8" "61736394" "61736394" "subst" "0.00215167" "01943" "CHD7_000056" "g.61736394T>C" "" "" "" "CHD7(NM_017780.2):c.3202-5T>C, CHD7(NM_017780.3):c.3202-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823835T>C" "" "benign" "" "0000273474" "0" "90" "8" "61736498" "61736498" "subst" "0" "01943" "CHD7_000058" "g.61736498T>C" "" "" "" "CHD7(NM_017780.2):c.3301T>C (p.C1101R), CHD7(NM_017780.4):c.3301T>C (p.C1101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823939T>C" "" "pathogenic" "" "0000273475" "0" "10" "8" "61736563" "61736563" "subst" "4.07564E-5" "01943" "CHD7_000059" "g.61736563G>C" "" "" "" "CHD7(NM_017780.2):c.3366G>C (p.K1122N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60824004G>C" "" "benign" "" "0000273476" "0" "10" "8" "61736593" "61736593" "subst" "0.000111193" "01943" "CHD7_000060" "g.61736593T>C" "" "" "" "CHD7(NM_017780.2):c.3378+18T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60824034T>C" "" "benign" "" "0000273477" "0" "90" "8" "61741363" "61741363" "subst" "0" "01943" "CHD7_000061" "g.61741363C>T" "" "" "" "CHD7(NM_017780.2):c.3520C>T (p.Q1174*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60828804C>T" "" "pathogenic" "" "0000273478" "0" "10" "8" "61743153" "61743153" "subst" "0.000152664" "01943" "CHD7_000063" "g.61743153C>T" "" "" "" "CHD7(NM_017780.2):c.3778+17C>T, CHD7(NM_017780.4):c.3778+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60830594C>T" "" "benign" "" "0000273479" "0" "30" "8" "61750718" "61750718" "subst" "0.000383229" "01943" "CHD7_000065" "g.61750718G>A" "" "" "" "CHD7(NM_017780.2):c.4437G>A (p.G1479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60838159G>A" "" "likely benign" "" "0000273482" "0" "90" "8" "61761699" "61761699" "subst" "0" "01943" "CHD7_000251" "g.61761699G>A" "" "" "" "CHD7(NM_017780.2):c.5390G>A (p.G1797E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60849140G>A" "" "pathogenic" "" "0000273484" "0" "90" "8" "61763035" "61763035" "subst" "0" "01943" "CHD7_000196" "g.61763035G>A" "" "" "" "CHD7(NM_017780.2):c.5405-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850476G>A" "" "pathogenic" "" "0000273486" "0" "90" "8" "61764620" "61764620" "subst" "0" "01943" "CHD7_000254" "g.61764620G>A" "" "" "" "CHD7(NM_017780.2):c.5708G>A (p.W1903*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852061G>A" "" "pathogenic" "" "0000273487" "0" "50" "8" "61764740" "61764740" "subst" "2.03747E-5" "01943" "CHD7_000255" "g.61764740G>A" "" "" "" "CHD7(NM_017780.2):c.5828G>A (p.R1943Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852181G>A" "" "VUS" "" "0000273488" "0" "90" "8" "61765143" "61765143" "subst" "0" "01943" "CHD7_000256" "g.61765143G>A" "" "" "" "CHD7(NM_017780.2):c.5981G>A (p.W1994*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852584G>A" "" "pathogenic" "" "0000273489" "0" "10" "8" "61765273" "61765273" "subst" "0.0663851" "01943" "CHD7_000212" "g.61765273C>T" "" "" "" "CHD7(NM_017780.2):c.6103+8C>T, CHD7(NM_017780.4):c.6103+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852714C>T" "" "benign" "" "0000273490" "0" "30" "8" "61765395" "61765395" "subst" "0.00656225" "01943" "CHD7_000257" "g.61765395C>T" "" "" "" "CHD7(NM_017780.2):c.6111C>T (p.P2037=), CHD7(NM_017780.4):c.6111C>T (p.P2037=, p.(Pro2037=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852836C>T" "" "likely benign" "" "0000273492" "0" "10" "8" "61765419" "61765419" "subst" "0.0308872" "01943" "CHD7_000214" "g.61765419G>A" "" "" "" "CHD7(NM_017780.2):c.6135G>A (p.P2045=), CHD7(NM_017780.4):c.6135G>A (p.P2045=, p.(Pro2045=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852860G>A" "" "benign" "" "0000273493" "0" "10" "8" "61765560" "61765560" "subst" "0.0613358" "01943" "CHD7_000216" "g.61765560G>A" "" "" "" "CHD7(NM_017780.2):c.6276G>A (p.E2092=), CHD7(NM_017780.4):c.6276G>A (p.E2092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853001G>A" "" "benign" "" "0000273494" "0" "90" "8" "61765576" "61765576" "subst" "0" "01943" "CHD7_000259" "g.61765576C>T" "" "" "" "CHD7(NM_017780.2):c.6292C>T (p.R2098*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853017C>T" "" "pathogenic" "" "0000273495" "0" "50" "8" "61765633" "61765633" "subst" "1.62665E-5" "01943" "CHD7_000068" "g.61765633C>T" "" "" "" "CHD7(NM_017780.2):c.6349C>T (p.L2117F), CHD7(NM_017780.4):c.6349C>T (p.L2117F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853074C>T" "" "VUS" "" "0000273496" "0" "30" "8" "61765797" "61765797" "subst" "0.000150798" "01943" "CHD7_000070" "g.61765797C>T" "" "" "" "CHD7(NM_017780.2):c.6513C>T (p.A2171=), CHD7(NM_017780.4):c.6513C>T (p.A2171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853238C>T" "" "likely benign" "" "0000273497" "0" "50" "8" "61765798" "61765798" "subst" "0" "01943" "CHD7_000071" "g.61765798G>A" "" "" "" "CHD7(NM_017780.2):c.6514G>A (p.E2172K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853239G>A" "" "VUS" "" "0000273498" "0" "90" "8" "61765888" "61765888" "subst" "0" "01943" "CHD7_000072" "g.61765888G>T" "" "" "" "CHD7(NM_017780.2):c.6604G>T (p.E2202*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853329G>T" "" "pathogenic" "" "0000273499" "0" "30" "8" "61765944" "61765944" "subst" "0.00109978" "01943" "CHD7_000074" "g.61765944T>G" "" "" "" "CHD7(NM_017780.2):c.6660T>G (p.G2220=), CHD7(NM_017780.4):c.6660T>G (p.G2220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853385T>G" "" "likely benign" "" "0000273500" "0" "90" "8" "61766996" "61766996" "subst" "0" "01943" "CHD7_000076" "g.61766996C>T" "" "" "" "CHD7(NM_017780.2):c.6850C>T (p.R2284*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60854437C>T" "" "pathogenic" "" "0000273501" "0" "90" "8" "61767083" "61767083" "subst" "0" "01943" "CHD7_000077" "g.61767083G>A" "" "" "" "CHD7(NM_017780.2):c.6936+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60854524G>A" "" "pathogenic" "" "0000273502" "0" "90" "8" "61768757" "61768757" "subst" "0" "01943" "CHD7_000080" "g.61768757C>A" "" "" "" "CHD7(NM_017780.2):c.7160C>A (p.S2387*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856198C>A" "" "pathogenic" "" "0000273503" "0" "50" "8" "61769032" "61769032" "subst" "2.05761E-5" "01943" "CHD7_000081" "g.61769032G>A" "" "" "" "CHD7(NM_017780.2):c.7193G>A (p.R2398H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856473G>A" "" "VUS" "" "0000273504" "0" "10" "8" "61769048" "61769048" "subst" "0.000633486" "01943" "CHD7_000082" "g.61769048G>A" "" "" "" "CHD7(NM_017780.2):c.7209G>A (p.R2403=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856489G>A" "" "benign" "" "0000273505" "0" "90" "8" "61769067" "61769067" "del" "0" "01943" "CHD7_000083" "g.61769067del" "" "" "" "CHD7(NM_017780.2):c.7228delG (p.E2410Rfs*33)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856508del" "" "pathogenic" "" "0000273507" "0" "90" "8" "61773626" "61773626" "dup" "0" "01943" "CHD7_000089" "g.61773626dup" "" "" "" "CHD7(NM_017780.2):c.7772dupT (p.L2591Ffs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60861067dup" "" "pathogenic" "" "0000273508" "0" "90" "8" "61773657" "61773657" "subst" "0" "01943" "CHD7_000090" "g.61773657C>G" "" "" "" "CHD7(NM_017780.2):c.7803C>G (p.Y2601*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60861098C>G" "" "pathogenic" "" "0000273509" "0" "90" "8" "61777574" "61777574" "subst" "0" "01943" "CHD7_000091" "g.61777574G>A" "" "" "" "CHD7(NM_017780.2):c.8077-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865015G>A" "" "pathogenic" "" "0000273510" "0" "90" "8" "61654835" "61654835" "subst" "0" "01943" "CHD7_000014" "g.61654835C>T" "" "" "" "CHD7(NM_017780.2):c.844C>T (p.Q282*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742276C>T" "" "pathogenic" "" "0000273511" "0" "30" "8" "61778069" "61778069" "subst" "4.06144E-6" "01943" "CHD7_000093" "g.61778069T>C" "" "" "" "CHD7(NM_017780.2):c.8571T>C (p.S2857=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865510T>C" "" "likely benign" "" "0000273512" "0" "30" "8" "61778159" "61778159" "subst" "0.000195054" "01943" "CHD7_000094" "g.61778159G>A" "" "" "" "CHD7(NM_017780.2):c.8661G>A (p.P2887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865600G>A" "" "likely benign" "" "0000273513" "0" "10" "8" "61778448" "61778448" "subst" "0.00400104" "01943" "CHD7_000095" "g.61778448C>T" "" "" "" "CHD7(NM_001316690.1):c.2803C>T (p.(Leu935Phe)), CHD7(NM_017780.2):c.8950C>T (p.L2984F), CHD7(NM_017780.4):c.8950C>T (p.L2984F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865889C>T" "" "benign" "" "0000273514" "0" "30" "8" "61654081" "61654081" "subst" "0.000171882" "01943" "CHD7_000008" "g.61654081G>A" "" "" "" "CHD7(NM_017780.2):c.90G>A (p.P30=), CHD7(NM_017780.4):c.90G>A (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741522G>A" "" "likely benign" "" "0000273515" "0" "90" "8" "61654912" "61654913" "del" "0" "01943" "CHD7_000015" "g.61654912_61654913del" "" "" "" "CHD7(NM_017780.2):c.921_922delAG (p.G308Afs*9)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742353_60742354del" "" "pathogenic" "" "0000273516" "0" "90" "8" "61654955" "61654956" "del" "0" "01943" "CHD7_000016" "g.61654955_61654956del" "" "" "" "CHD7(NM_017780.2):c.964_965delTT (p.L322Sfs*2)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742396_60742397del" "" "pathogenic" "" "0000332137" "0" "50" "8" "61654740" "61654740" "subst" "6.09459E-5" "01804" "CHD7_000013" "g.61654740G>A" "" "" "" "CHD7(NM_017780.3):c.749G>A (p.(Arg250His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742181G>A" "" "VUS" "" "0000332138" "0" "50" "8" "61655229" "61655229" "subst" "0" "01804" "CHD7_000020" "g.61655229T>G" "" "" "" "CHD7(NM_017780.3):c.1238T>G (p.(Val413Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742670T>G" "" "VUS" "" "0000332139" "0" "50" "8" "61655366" "61655366" "subst" "0.000195128" "01804" "CHD7_000023" "g.61655366C>T" "" "" "" "CHD7(NM_017780.3):c.1375C>T (p.(Arg459Cys)), CHD7(NM_017780.4):c.1375C>T (p.R459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742807C>T" "" "VUS" "" "0000332140" "0" "30" "8" "61655388" "61655388" "subst" "0.00101723" "01804" "CHD7_000025" "g.61655388C>T" "" "" "" "CHD7(NM_017780.2):c.1397C>T (p.S466L), CHD7(NM_017780.3):c.1397C>T (p.(Ser466Leu)), CHD7(NM_017780.4):c.1397C>T (p.S466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742829C>T" "" "likely benign" "" "0000332142" "0" "50" "8" "61693905" "61693905" "subst" "0.000820084" "01804" "CHD7_000031" "g.61693905C>T" "" "" "" "CHD7(NM_017780.3):c.2012C>T (p.(Pro671Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781346C>T" "" "VUS" "" "0000332144" "0" "50" "8" "61707595" "61707595" "subst" "4.06521E-6" "01804" "CHD7_000035" "g.61707595A>C" "" "" "" "CHD7(NM_017780.3):c.2147A>C (p.(Lys716Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795036A>C" "" "VUS" "" "0000332145" "0" "50" "8" "61714084" "61714085" "ins" "0" "01804" "CHD7_000042" "g.61714084_61714085insTCCTAAAA" "" "" "" "CHD7(NM_017780.3):c.2377-3_2377-2insTCCTAAAA (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60801525_60801526insTCCTAAAA" "" "VUS" "" "0000332146" "0" "50" "8" "61714086" "61714086" "subst" "0" "01804" "CHD7_000043" "g.61714086G>A" "" "" "" "CHD7(NM_017780.3):c.2377-1G>A (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60801527G>A" "" "VUS" "" "0000332147" "0" "50" "8" "61728951" "61728955" "del" "0" "01804" "CHD7_000044" "g.61728951_61728955del" "" "" "" "CHD7(NM_017780.3):c.2500_2504del (p.(Tyr835SerfsTer14))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60816392_60816396del" "" "VUS" "" "0000332148" "0" "50" "8" "61732632" "61732632" "subst" "0.00334188" "01804" "CHD7_000047" "g.61732632A>G" "" "" "" "CHD7(NM_017780.2):c.2680A>G (p.T894A), CHD7(NM_017780.3):c.2680A>G (p.(Thr894Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60820073A>G" "" "VUS" "" "0000332150" "0" "50" "8" "61734647" "61734647" "subst" "8.1281E-6" "01804" "CHD7_000052" "g.61734647A>T" "" "" "" "CHD7(NM_017780.3):c.2900A>T (p.(Lys967Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822088A>T" "" "VUS" "" "0000332151" "0" "50" "8" "61736394" "61736394" "subst" "0.00215167" "01804" "CHD7_000056" "g.61736394T>C" "" "" "" "CHD7(NM_017780.2):c.3202-5T>C, CHD7(NM_017780.3):c.3202-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823835T>C" "" "VUS" "" "0000332152" "0" "50" "8" "61757445" "61757445" "subst" "0" "01804" "CHD7_000316" "g.61757445C>T" "" "" "" "CHD7(NM_017780.3):c.4873C>T (p.(Leu1625Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60844886C>T" "" "VUS" "" "0000332153" "0" "30" "8" "61757805" "61757805" "subst" "0.00571791" "01804" "CHD7_000188" "g.61757805C>T" "" "" "" "CHD7(NM_017780.3):c.5051-4C>T (p.?), CHD7(NM_017780.4):c.5051-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845246C>T" "" "likely benign" "" "0000332154" "0" "50" "8" "61761687" "61761687" "subst" "0" "01804" "CHD7_000323" "g.61761687C>G" "" "" "" "CHD7(NM_017780.3):c.5378C>G (p.(Ser1793Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60849128C>G" "" "VUS" "" "0000332155" "0" "50" "8" "61764728" "61764728" "subst" "0" "01804" "CHD7_000329" "g.61764728G>A" "" "" "" "CHD7(NM_017780.3):c.5816G>A (p.(Arg1939Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852169G>A" "" "VUS" "" "0000332157" "0" "50" "8" "61765899" "61765899" "subst" "0" "01804" "CHD7_000073" "g.61765899G>C" "" "" "" "CHD7(NM_017780.3):c.6615G>C (p.(Gln2205His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853340G>C" "" "VUS" "" "0000332158" "0" "50" "8" "61768562" "61768562" "subst" "0.000158312" "01804" "CHD7_000078" "g.61768562A>G" "" "" "" "CHD7(NM_017780.2):c.6965A>G (p.N2322S), CHD7(NM_017780.3):c.6965A>G (p.(Asn2322Ser)), CHD7(NM_017780.4):c.6965A>G (p.N2322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856003A>G" "" "VUS" "" "0000332160" "0" "50" "8" "61777723" "61777723" "subst" "0" "01804" "CHD7_000092" "g.61777723A>T" "" "" "" "CHD7(NM_017780.3):c.8225A>T (p.(Asn2742Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865164A>T" "" "VUS" "" "0000338500" "0" "10" "8" "61591436" "61591436" "subst" "0" "02327" "CHD7_000096" "g.61591436C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60678877C>T" "" "benign" "" "0000338502" "0" "90" "8" "61707544" "61707544" "subst" "0" "02327" "CHD7_000116" "g.61707544G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60794985G>A" "" "pathogenic" "" "0000338503" "0" "50" "8" "61714157" "61714157" "subst" "0" "02327" "CHD7_000004" "g.61714157G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60801598G>C" "" "VUS" "" "0000338509" "0" "70" "8" "61734709" "61734709" "subst" "0" "02327" "CHD7_000140" "g.61734709G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822150G>A" "" "likely pathogenic" "" "0000338510" "0" "90" "8" "61735305" "61735305" "subst" "0" "02327" "CHD7_000148" "g.61735305G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822746G>A" "" "pathogenic" "" "0000338511" "0" "70" "8" "61736580" "61736580" "subst" "0" "02327" "CHD7_000154" "g.61736580G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60824021G>C" "" "likely pathogenic" "" "0000338512" "0" "70" "8" "61741219" "61741219" "subst" "0" "02327" "CHD7_000155" "g.61741219C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60828660C>G" "" "likely pathogenic" "" "0000338513" "0" "90" "8" "61741367" "61741367" "subst" "0" "02327" "CHD7_000156" "g.61741367T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60828808T>C" "" "pathogenic" "" "0000338514" "0" "90" "8" "61748843" "61748843" "subst" "0" "02327" "CHD7_000164" "g.61748843G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836284G>C" "" "pathogenic" "" "0000338515" "0" "90" "8" "61757623" "61757623" "subst" "0" "02327" "CHD7_000187" "g.61757623G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845064G>A" "" "pathogenic" "" "0000338516" "0" "10" "8" "61757805" "61757805" "subst" "0.00571791" "02327" "CHD7_000188" "g.61757805C>T" "" "" "" "CHD7(NM_017780.3):c.5051-4C>T (p.?), CHD7(NM_017780.4):c.5051-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845246C>T" "" "benign" "" "0000338517" "0" "90" "8" "61761608" "61761608" "subst" "0" "02327" "CHD7_000193" "g.61761608A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60849049A>G" "" "pathogenic" "" "0000338518" "0" "90" "8" "61763035" "61763035" "subst" "0" "02327" "CHD7_000196" "g.61763035G>A" "" "" "" "CHD7(NM_017780.2):c.5405-17G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850476G>A" "" "pathogenic" "" "0000338519" "0" "90" "8" "61763045" "61763045" "subst" "0" "02327" "CHD7_000197" "g.61763045G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850486G>A" "" "pathogenic" "" "0000338520" "0" "90" "8" "61763590" "61763590" "subst" "0" "02327" "CHD7_000203" "g.61763590G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60851031G>T" "" "pathogenic" "" "0000338521" "0" "10" "8" "61765273" "61765273" "subst" "0.0663851" "02327" "CHD7_000212" "g.61765273C>T" "" "" "" "CHD7(NM_017780.2):c.6103+8C>T, CHD7(NM_017780.4):c.6103+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852714C>T" "" "benign" "" "0000338522" "0" "90" "8" "61777573" "61777573" "subst" "0" "02327" "CHD7_000241" "g.61777573A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865014A>G" "" "pathogenic" "" "0000338523" "0" "90" "8" "61777573" "61777573" "subst" "0" "02327" "CHD7_000242" "g.61777573A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865014A>C" "" "pathogenic" "" "0000340293" "0" "10" "8" "61654300" "61654300" "subst" "0.001313" "02327" "CHD7_000101" "g.61654300G>A" "" "" "" "CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741741G>A" "" "benign" "" "0000340294" "0" "10" "8" "61654648" "61654648" "subst" "0.0019703" "02327" "CHD7_000106" "g.61654648C>T" "" "" "" "CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742089C>T" "" "benign" "" "0000340295" "0" "10" "8" "61655410" "61655410" "subst" "0.00189723" "02327" "CHD7_000026" "g.61655410G>C" "" "" "" "CHD7(NM_017780.2):c.1419G>C (p.G473=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742851G>C" "" "benign" "" "0000340297" "0" "10" "8" "61693960" "61693960" "subst" "0.000658165" "02327" "CHD7_000115" "g.61693960G>A" "" "" "" "CHD7(NM_017780.2):c.2067G>A (p.T689=), CHD7(NM_017780.4):c.2067G>A (p.T689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781401G>A" "" "benign" "" "0000340298" "0" "10" "8" "61707572" "61707572" "subst" "0.0124974" "02327" "CHD7_000118" "g.61707572T>C" "" "" "" "CHD7(NM_017780.4):c.2124T>C (p.S708=, p.(Ser708=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795013T>C" "" "benign" "" "0000340307" "0" "70" "8" "61750394" "61750394" "subst" "0" "02327" "CHD7_000173" "g.61750394G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60837835G>T" "" "likely pathogenic" "" "0000340308" "0" "10" "8" "61761616" "61761616" "subst" "0.0040258" "02327" "CHD7_000194" "g.61761616C>T" "" "" "" "CHD7(NM_017780.4):c.5307C>T (p.A1769=, p.(Ala1769=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60849057C>T" "" "benign" "" "0000340309" "0" "30" "8" "61764609" "61764609" "subst" "0.00137575" "02327" "CHD7_000206" "g.61764609C>G" "" "" "" "CHD7(NM_017780.2):c.5697C>G (p.G1899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852050C>G" "" "likely benign" "" "0000340310" "0" "10" "8" "61764666" "61764666" "subst" "0.000394694" "02327" "CHD7_000208" "g.61764666T>C" "" "" "" "CHD7(NM_017780.2):c.5754T>C (p.T1918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852107T>C" "" "benign" "" "0000340311" "0" "10" "8" "61765419" "61765419" "subst" "0.0308872" "02327" "CHD7_000214" "g.61765419G>A" "" "" "" "CHD7(NM_017780.2):c.6135G>A (p.P2045=), CHD7(NM_017780.4):c.6135G>A (p.P2045=, p.(Pro2045=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852860G>A" "" "benign" "" "0000340312" "0" "10" "8" "61765560" "61765560" "subst" "0.0613358" "02327" "CHD7_000216" "g.61765560G>A" "" "" "" "CHD7(NM_017780.2):c.6276G>A (p.E2092=), CHD7(NM_017780.4):c.6276G>A (p.E2092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853001G>A" "" "benign" "" "0000340313" "0" "30" "8" "61765944" "61765944" "subst" "0.00109978" "02327" "CHD7_000074" "g.61765944T>G" "" "" "" "CHD7(NM_017780.2):c.6660T>G (p.G2220=), CHD7(NM_017780.4):c.6660T>G (p.G2220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853385T>G" "" "likely benign" "" "0000340314" "0" "10" "8" "61766022" "61766022" "subst" "0.00483884" "02327" "CHD7_000224" "g.61766022G>A" "" "" "" "CHD7(NM_017780.4):c.6738G>A (p.E2246=, p.(Glu2246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853463G>A" "" "benign" "" "0000340315" "0" "10" "8" "61767070" "61767070" "subst" "0.000412062" "02327" "CHD7_000226" "g.61767070G>A" "" "" "" "CHD7(NM_017780.2):c.6924G>A (p.S2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60854511G>A" "" "benign" "" "0000340316" "0" "10" "8" "61769117" "61769117" "subst" "0.000264069" "02327" "CHD7_000230" "g.61769117G>A" "" "" "" "CHD7(NM_017780.2):c.7278G>A (p.Q2426=), CHD7(NM_017780.4):c.7278G>A (p.(Gln2426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856558G>A" "" "benign" "" "0000340317" "0" "10" "8" "61769429" "61769429" "subst" "0.00120131" "02327" "CHD7_000087" "g.61769429A>G" "" "" "" "CHD7(NM_017780.4):c.7590A>G (p.K2530=, p.(Lys2530=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856870A>G" "" "benign" "" "0000340616" "0" "10" "8" "61765566" "61765566" "subst" "0.00427507" "02327" "CHD7_000217" "g.61765566A>G" "" "" "" "CHD7(NM_017780.2):c.6282A>G (p.G2094=), CHD7(NM_017780.4):c.6282A>G (p.G2094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853007A>G" "" "benign" "" "0000341107" "0" "70" "8" "61736433" "61736433" "subst" "0" "02327" "CHD7_000149" "g.61736433C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823874C>A" "" "likely pathogenic" "" "0000341251" "0" "30" "8" "61765077" "61765077" "subst" "4.06977E-6" "02327" "CHD7_000210" "g.61765077C>G" "" "" "" "CHD7(NM_017780.3):c.5915C>G (p.(Ala1972Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852518C>G" "" "likely benign" "" "0000341270" "0" "10" "8" "61765762" "61765762" "subst" "0.00103786" "02327" "CHD7_000069" "g.61765762G>A" "" "" "" "CHD7(NM_017780.4):c.6478G>A (p.A2160T, p.(Ala2160Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853203G>A" "" "benign" "" "0000341554" "0" "30" "8" "61693946" "61693951" "dup" "0" "02327" "CHD7_000114" "g.61693946_61693951dup" "" "" "" "CHD7(NM_017780.2):c.2053_2058dupGCAAAA (p.A685_K686dup), CHD7(NM_017780.4):c.2053_2058dup (p.(Ala685_Lys686dup)), CHD7(NM_017780.4):c.2053_2058dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60781387_60781392dup" "" "likely benign" "" "0000341795" "0" "90" "8" "61743013" "61743013" "subst" "0" "02327" "CHD7_000158" "g.61743013C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60830454C>T" "" "pathogenic" "" "0000341863" "0" "90" "8" "61749401" "61749401" "subst" "0" "02327" "CHD7_000167" "g.61749401C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836842C>T" "" "pathogenic" "" "0000341868" "0" "90" "8" "61749420" "61749420" "subst" "0" "02327" "CHD7_000168" "g.61749420G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836861G>A" "" "pathogenic" "" "0000341941" "0" "90" "8" "61750674" "61750674" "subst" "0" "02327" "CHD7_000175" "g.61750674C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60838115C>T" "" "pathogenic" "" "0000341950" "0" "90" "8" "61750761" "61750761" "subst" "0" "02327" "CHD7_000178" "g.61750761C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60838202C>T" "" "pathogenic" "" "0000342045" "0" "90" "8" "61757601" "61757601" "subst" "0" "02327" "CHD7_000185" "g.61757601C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845042C>T" "" "pathogenic" "" "0000342108" "0" "90" "8" "61763075" "61763075" "subst" "0" "02327" "CHD7_000199" "g.61763075C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850516C>T" "" "pathogenic" "" "0000342114" "0" "90" "8" "61763105" "61763105" "subst" "0" "02327" "CHD7_000201" "g.61763105C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850546C>T" "" "pathogenic" "" "0000342170" "0" "90" "8" "61764745" "61764745" "subst" "0" "02327" "CHD7_000209" "g.61764745C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852186C>T" "" "pathogenic" "" "0000342197" "0" "90" "8" "61765241" "61765241" "subst" "0" "02327" "CHD7_000211" "g.61765241C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852682C>T" "" "pathogenic" "" "0000342209" "0" "90" "8" "61765441" "61765441" "subst" "0" "02327" "CHD7_000215" "g.61765441C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852882C>T" "" "pathogenic" "" "0000342329" "0" "90" "8" "61768552" "61768552" "subst" "0" "02327" "CHD7_000227" "g.61768552C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60855993C>T" "" "pathogenic" "" "0000342379" "0" "90" "8" "61769091" "61769091" "subst" "0" "02327" "CHD7_000228" "g.61769091C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856532C>T" "" "pathogenic" "" "0000342382" "0" "90" "8" "61769121" "61769121" "subst" "0" "02327" "CHD7_000231" "g.61769121C>T" "" "" "" "CHD7(NM_017780.2):c.7282C>T (p.R2428*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856562C>T" "" "pathogenic" "" "0000343006" "0" "90" "8" "61655471" "61655471" "subst" "0" "02327" "CHD7_000110" "g.61655471C>T" "" "" "" "CHD7(NM_017780.3):c.1480C>T (p.(Arg494*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742912C>T" "" "pathogenic" "" "0000343454" "0" "50" "8" "61732609" "61732609" "subst" "0" "02327" "CHD7_000002" "g.61732609G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60820050G>A" "" "VUS" "" "0000343501" "0" "30" "8" "61734482" "61734482" "subst" "0.000604082" "02327" "CHD7_000138" "g.61734482G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60821923G>A" "" "likely benign" "" "0000343505" "0" "90" "8" "61734586" "61734586" "subst" "0" "02327" "CHD7_000139" "g.61734586C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822027C>T" "" "pathogenic" "" "0000343549" "0" "90" "8" "61735193" "61735193" "subst" "0" "02327" "CHD7_000146" "g.61735193A>G" "" "" "" "CHD7(NM_017780.2):c.3089A>G (p.N1030S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822634A>G" "" "pathogenic" "" "0000343565" "0" "70" "8" "61736537" "61736537" "subst" "0" "02327" "CHD7_000153" "g.61736537A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823978A>T" "" "likely pathogenic" "" "0000343648" "0" "30" "8" "61765636" "61765636" "subst" "0" "02327" "CHD7_000221" "g.61765636A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853077A>G" "" "likely benign" "" "0000343649" "0" "30" "8" "61765637" "61765637" "subst" "0.000109782" "02327" "CHD7_000222" "g.61765637A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853078A>G" "" "likely benign" "" "0000343722" "0" "30" "8" "61655037" "61655037" "subst" "9.74619E-5" "02327" "CHD7_000107" "g.61655037A>G" "" "" "" "CHD7(NM_017780.2):c.1046A>G (p.N349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742478A>G" "" "likely benign" "" "0000343940" "0" "90" "8" "61754548" "61754548" "subst" "0" "02327" "CHD7_000182" "g.61754548A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60841989A>G" "" "pathogenic" "" "0000343963" "0" "90" "8" "61763083" "61763083" "subst" "0" "02327" "CHD7_000200" "g.61763083C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850524C>A" "" "pathogenic" "" "0000343971" "0" "30" "8" "61763846" "61763846" "subst" "3.05135E-5" "02327" "CHD7_000205" "g.61763846A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60851287A>G" "" "likely benign" "" "0000344022" "0" "90" "8" "61773581" "61773581" "subst" "0" "02327" "CHD7_000238" "g.61773581A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60861022A>G" "" "pathogenic" "" "0000344234" "0" "70" "8" "61736498" "61736498" "subst" "0" "02327" "CHD7_000058" "g.61736498T>C" "" "" "" "CHD7(NM_017780.2):c.3301T>C (p.C1101R), CHD7(NM_017780.4):c.3301T>C (p.C1101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823939T>C" "" "likely pathogenic" "" "0000344235" "0" "70" "8" "61736499" "61736499" "subst" "0" "02327" "CHD7_000151" "g.61736499G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823940G>T" "" "likely pathogenic" "" "0000344236" "0" "70" "8" "61736499" "61736499" "subst" "0" "02327" "CHD7_000152" "g.61736499G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823940G>A" "" "likely pathogenic" "" "0000344519" "0" "70" "8" "61742999" "61742999" "subst" "0" "02327" "CHD7_000157" "g.61742999A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60830440A>G" "" "likely pathogenic" "" "0000344521" "0" "90" "8" "61654355" "61654355" "subst" "0" "02327" "CHD7_000102" "g.61654355C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741796C>T" "" "pathogenic" "" "0000344550" "0" "70" "8" "61749570" "61749570" "subst" "0" "02327" "CHD7_000172" "g.61749570A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60837011A>G" "" "likely pathogenic" "" "0000344614" "0" "90" "8" "61763144" "61763144" "subst" "0" "02327" "CHD7_000202" "g.61763144C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850585C>T" "" "pathogenic" "" "0000344641" "0" "90" "8" "61654595" "61654595" "subst" "0" "02327" "CHD7_000105" "g.61654595C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742036C>T" "" "pathogenic" "" "0000344689" "0" "90" "8" "61769115" "61769115" "subst" "0" "02327" "CHD7_000229" "g.61769115C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856556C>T" "" "pathogenic" "" "0000344691" "0" "90" "8" "61769151" "61769151" "subst" "0" "02327" "CHD7_000232" "g.61769151C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856592C>T" "" "pathogenic" "" "0000344697" "0" "90" "8" "61769280" "61769280" "subst" "0" "02327" "CHD7_000234" "g.61769280C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60856721C>T" "" "pathogenic" "" "0000344802" "0" "90" "8" "61655126" "61655126" "subst" "0" "02327" "CHD7_000108" "g.61655126C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742567C>T" "" "pathogenic" "" "0000344849" "0" "90" "8" "61655357" "61655357" "subst" "0" "02327" "CHD7_000109" "g.61655357C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742798C>T" "" "pathogenic" "" "0000344875" "0" "90" "8" "61655489" "61655489" "subst" "0" "02327" "CHD7_000111" "g.61655489C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742930C>T" "" "pathogenic" "" "0000344880" "0" "90" "8" "61654142" "61654142" "subst" "0" "02327" "CHD7_000098" "g.61654142C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741583C>T" "" "pathogenic" "" "0000344969" "0" "90" "8" "61713070" "61713070" "subst" "0" "02327" "CHD7_000121" "g.61713070C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60800511C>T" "" "pathogenic" "" "0000344973" "0" "90" "8" "61713079" "61713079" "subst" "0" "02327" "CHD7_000122" "g.61713079C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60800520C>T" "" "pathogenic" "" "0000345182" "0" "90" "8" "61757928" "61757928" "subst" "0" "02327" "CHD7_000189" "g.61757928G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845369G>T" "" "pathogenic" "" "0000345299" "0" "90" "8" "61773577" "61773577" "subst" "0" "02327" "CHD7_000237" "g.61773577G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60861018G>T" "" "pathogenic" "" "0000345314" "0" "90" "8" "61777587" "61777587" "subst" "0" "02327" "CHD7_000243" "g.61777587G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865028G>T" "" "pathogenic" "" "0000345594" "0" "50" "8" "61734439" "61734439" "subst" "7.47502E-5" "02327" "CHD7_000137" "g.61734439G>A" "" "" "" "CHD7(NM_017780.4):c.2788G>A (p.E930K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60821880G>A" "" "VUS" "" "0000345622" "0" "70" "8" "61735154" "61735154" "subst" "0" "02327" "CHD7_000144" "g.61735154G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822595G>A" "" "likely pathogenic" "" "0000345670" "0" "10" "8" "61743055" "61743055" "subst" "0.000605165" "02327" "CHD7_000159" "g.61743055G>A" "" "" "" "CHD7(NM_017780.2):c.3697G>A (p.G1233S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60830496G>A" "" "benign" "" "0000345783" "0" "90" "8" "61757622" "61757622" "subst" "0" "02327" "CHD7_000186" "g.61757622G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845063G>A" "" "pathogenic" "" "0000345860" "0" "70" "8" "61765606" "61765606" "subst" "0" "02327" "CHD7_000220" "g.61765606G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853047G>A" "" "likely pathogenic" "" "0000345865" "0" "30" "8" "61765730" "61765730" "subst" "1.22089E-5" "02327" "CHD7_000223" "g.61765730G>T" "" "" "" "CHD7(NM_017780.2):c.6446G>T (p.G2149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853171G>T" "" "likely benign" "" "0000345965" "0" "50" "8" "61778455" "61778455" "subst" "0" "02327" "CHD7_000245" "g.61778455G>A" "" "" "" "CHD7(NM_017780.4):c.8957G>A (p.G2986E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865896G>A" "" "VUS" "" "0000346253" "0" "10" "8" "61707678" "61707678" "subst" "0.00102133" "02327" "CHD7_000038" "g.61707678G>A" "" "" "" "CHD7(NM_017780.4):c.2230G>A (p.G744S, p.(Gly744Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795119G>A" "" "benign" "" "0000346500" "0" "70" "8" "61654155" "61654155" "subst" "8.14392E-6" "02327" "CHD7_000099" "g.61654155A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60741596A>G" "" "likely pathogenic" "" "0000346543" "0" "50" "8" "61735148" "61735148" "subst" "0" "02327" "CHD7_000143" "g.61735148T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822589T>C" "" "VUS" "" "0000346547" "0" "90" "8" "61735186" "61735186" "subst" "0" "02327" "CHD7_000145" "g.61735186A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822627A>G" "" "pathogenic" "" "0000346551" "0" "70" "8" "61736439" "61736439" "subst" "0" "02327" "CHD7_000150" "g.61736439T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60823880T>G" "" "likely pathogenic" "" "0000346986" "0" "50" "8" "61765584" "61765584" "subst" "0" "02327" "CHD7_000218" "g.61765584G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853025G>T" "" "VUS" "" "0000347396" "0" "70" "8" "61748724" "61748724" "subst" "0" "02327" "CHD7_000162" "g.61748724A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836165A>C" "" "likely pathogenic" "" "0000347653" "0" "10" "8" "61714146" "61714146" "subst" "0.000225421" "02327" "CHD7_000124" "g.61714146A>T" "" "" "" "CHD7(NM_017780.2):c.2436A>T (p.K812N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60801587A>T" "" "benign" "" "0000347670" "0" "70" "8" "61734371" "61734371" "subst" "0" "02327" "CHD7_000135" "g.61734371A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60821812A>G" "" "likely pathogenic" "" "0000348252" "0" "50" "8" "61763836" "61763836" "subst" "0" "02327" "CHD7_000204" "g.61763836C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60851277C>G" "" "VUS" "" "0000348301" "0" "30" "8" "61654685" "61654685" "subst" "0.00153522" "02327" "CHD7_000012" "g.61654685C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742126C>A" "" "likely benign" "" "0000348487" "0" "30" "8" "61655547" "61655547" "subst" "4.06984E-6" "02327" "CHD7_000112" "g.61655547C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742988C>T" "" "likely benign" "" "0000348568" "0" "90" "8" "61707642" "61707642" "subst" "6.50232E-5" "02327" "CHD7_000119" "g.61707642C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60795083C>G" "" "pathogenic" "" "0000348736" "0" "50" "8" "61754219" "61754219" "subst" "0" "02327" "CHD7_000179" "g.61754219C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60841660C>T" "" "VUS" "" "0000348783" "0" "90" "8" "61761160" "61761160" "subst" "0" "02327" "CHD7_000192" "g.61761160C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60848601C>G" "" "pathogenic" "" "0000348787" "0" "50" "8" "61763070" "61763070" "subst" "0" "02327" "CHD7_000198" "g.61763070C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60850511C>T" "" "VUS" "" "0000349031" "0" "30" "8" "61655388" "61655388" "subst" "0.00101723" "02327" "CHD7_000025" "g.61655388C>T" "" "" "" "CHD7(NM_017780.2):c.1397C>T (p.S466L), CHD7(NM_017780.3):c.1397C>T (p.(Ser466Leu)), CHD7(NM_017780.4):c.1397C>T (p.S466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60742829C>T" "" "likely benign" "" "0000349671" "0" "90" "8" "61735218" "61735218" "subst" "0" "02327" "CHD7_000147" "g.61735218G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60822659G>A" "" "pathogenic" "" "0000349718" "0" "90" "8" "61761624" "61761624" "subst" "0" "02327" "CHD7_000195" "g.61761624G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60849065G>A" "" "pathogenic" "" "0000349752" "0" "90" "8" "61775189" "61775189" "subst" "0" "02327" "CHD7_000240" "g.61775189G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60862630G>A" "" "pathogenic" "" "0000349859" "0" "90" "8" "61728967" "61728967" "subst" "0" "02327" "CHD7_000129" "g.61728967G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60816408G>A" "" "pathogenic" "" "0000349860" "0" "90" "8" "61728967" "61728967" "subst" "0" "02327" "CHD7_000130" "g.61728967G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60816408G>C" "" "pathogenic" "" "0000349908" "0" "70" "8" "61748826" "61748826" "subst" "0" "02327" "CHD7_000163" "g.61748826T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836267T>G" "" "likely pathogenic" "" "0000349909" "0" "90" "8" "61749379" "61749379" "subst" "0" "02327" "CHD7_000165" "g.61749379C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60836820C>A" "" "pathogenic" "" "0000349921" "0" "70" "8" "61750687" "61750687" "subst" "0" "02327" "CHD7_000176" "g.61750687A>G" "" "" "" "CHD7(NM_017780.2):c.4406A>G (p.Y1469C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60838128A>G" "" "likely pathogenic" "" "0000349949" "0" "90" "8" "61757939" "61757939" "subst" "0" "02327" "CHD7_000190" "g.61757939C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60845380C>G" "" "pathogenic" "" "0000349965" "0" "90" "8" "61764618" "61764618" "subst" "0" "02327" "CHD7_000207" "g.61764618C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852059C>G" "" "pathogenic" "" "0000350391" "0" "70" "8" "61765588" "61765588" "subst" "0" "02327" "CHD7_000219" "g.61765588G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60853029G>A" "" "likely pathogenic" "" "0000350456" "0" "30" "8" "61778289" "61778289" "subst" "0.000110289" "02327" "CHD7_000244" "g.61778289G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60865730G>A" "" "likely benign" "" "0000351306" "0" "90" "8" "61720833" "61720833" "subst" "0" "02327" "CHD7_000127" "g.61720833T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60808274T>C" "" "pathogenic" "" "0000351307" "0" "90" "8" "61750395" "61750395" "subst" "0" "02327" "CHD7_000174" "g.61750395G>A" "" "" "" "CHD7(NM_017780.4):c.4353+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60837836G>A" "" "pathogenic" "" "0000351308" "0" "90" "8" "61757421" "61757421" "subst" "0" "02327" "CHD7_000184" "g.61757421A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60844862A>T" "" "pathogenic" "" "0000351310" "0" "90" "8" "61765386" "61765386" "subst" "0" "02327" "CHD7_000213" "g.61765386A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.60852827A>C" "" "pathogenic" "" "0000442542" "0" "70" "8" "61777986" "61777986" "subst" "0.00033336" "03121" "CHD7_000260" "g.61777986G>A" "" "{PMID:Vadgama 2019:30886340}, {DOI:Vadgama 2019:10.1038/s41431-019-0376-7}" "" "" "" "Germline" "" "" "0" "" "" "g.60865427G>A" "" "likely pathogenic" "" "0000474966" "1" "50" "8" "61763087" "61763087" "subst" "6.52108E-5" "00006" "CHD7_000265" "g.61763087G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60850528G>A" "" "VUS" "" "0000474967" "1" "70" "8" "61655179" "61655179" "subst" "0.000444249" "00006" "CHD7_000261" "g.61655179G>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60742620G>T" "" "likely pathogenic" "" "0000474968" "1" "50" "8" "61655345" "61655345" "subst" "0" "00006" "CHD7_000262" "g.61655345C>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60742786C>G" "" "VUS" "" "0000474969" "1" "50" "8" "61654740" "61654740" "subst" "6.09459E-5" "00006" "CHD7_000013" "g.61654740G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60742181G>A" "" "VUS" "" "0000474970" "0" "50" "8" "61693601" "61693601" "subst" "3.83514E-5" "00006" "CHD7_000263" "g.61693601A>G" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60781042A>G" "" "VUS" "" "0000474971" "0" "50" "8" "61768540" "61768540" "subst" "0" "00006" "CHD7_000266" "g.61768540G>A" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60855981G>A" "" "VUS" "" "0000474972" "1" "50" "8" "61713055" "61713055" "subst" "8.13061E-5" "00006" "CHD7_000264" "g.61713055C>T" "" "{PMID:Eggers 2016:27899157}" "" "" "" "Germline" "" "" "0" "" "46,XY" "g.60800496C>T" "" "VUS" "" "0000535042" "0" "50" "8" "61654037" "61654037" "subst" "0" "01804" "CHD7_000267" "g.61654037A>G" "" "" "" "CHD7(NM_017780.4):c.46A>G (p.(Ile16Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741478A>G" "" "VUS" "" "0000535043" "0" "10" "8" "61654207" "61654207" "subst" "0.0071292" "02330" "CHD7_000268" "g.61654207T>C" "" "" "" "CHD7(NM_017780.2):c.216T>C (p.Y72=), CHD7(NM_017780.4):c.216T>C (p.Y72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741648T>C" "" "benign" "" "0000535044" "0" "10" "8" "61654207" "61654207" "subst" "0.0071292" "01943" "CHD7_000268" "g.61654207T>C" "" "" "" "CHD7(NM_017780.2):c.216T>C (p.Y72=), CHD7(NM_017780.4):c.216T>C (p.Y72=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741648T>C" "" "benign" "" "0000535045" "0" "10" "8" "61654298" "61654298" "subst" "0.0122814" "02330" "CHD7_000011" "g.61654298T>A" "" "" "" "CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741739T>A" "" "benign" "" "0000535046" "0" "30" "8" "61654298" "61654298" "subst" "0.0122814" "01804" "CHD7_000011" "g.61654298T>A" "" "" "" "CHD7(NM_017780.2):c.307T>A (p.S103T), CHD7(NM_017780.3):c.307T>A (p.(Ser103Thr)), CHD7(NM_017780.4):c.307T>A (p.S103T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741739T>A" "" "likely benign" "" "0000535047" "0" "10" "8" "61654300" "61654300" "subst" "0.001313" "01943" "CHD7_000101" "g.61654300G>A" "" "" "" "CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741741G>A" "" "benign" "" "0000535050" "0" "50" "8" "61654491" "61654491" "subst" "8.30413E-6" "02327" "CHD7_000271" "g.61654491C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741932C>T" "" "VUS" "" "0000535051" "0" "50" "8" "61654575" "61654575" "subst" "0" "02325" "CHD7_000272" "g.61654575G>C" "" "" "" "CHD7(NM_017780.4):c.584G>C (p.R195P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742016G>C" "" "VUS" "" "0000535052" "0" "10" "8" "61654648" "61654648" "subst" "0.0019703" "01943" "CHD7_000106" "g.61654648C>T" "" "" "" "CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742089C>T" "" "benign" "" "0000535053" "0" "30" "8" "61654720" "61654720" "subst" "0.000138099" "01943" "CHD7_000273" "g.61654720C>T" "" "" "" "CHD7(NM_017780.2):c.729C>T (p.P243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742161C>T" "" "likely benign" "" "0000535054" "0" "50" "8" "61654733" "61654733" "subst" "0" "01943" "CHD7_000274" "g.61654733T>A" "" "" "" "CHD7(NM_017780.2):c.742T>A (p.S248T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742174T>A" "" "VUS" "" "0000535055" "0" "10" "8" "61654847" "61654847" "subst" "0.000699329" "01943" "CHD7_000275" "g.61654847A>G" "" "" "" "CHD7(NM_017780.2):c.856A>G (p.R286G), CHD7(NM_017780.4):c.856A>G (p.R286G, p.(Arg286Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742288A>G" "" "benign" "" "0000535057" "0" "50" "8" "61654937" "61654937" "subst" "0" "02327" "CHD7_000277" "g.61654937A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742378A>G" "" "VUS" "" "0000535058" "0" "10" "8" "61655009" "61655009" "subst" "0.00462147" "02330" "CHD7_000018" "g.61655009A>G" "" "" "" "CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742450A>G" "" "benign" "" "0000535059" "0" "30" "8" "61655009" "61655009" "subst" "0.00462147" "01804" "CHD7_000018" "g.61655009A>G" "" "" "" "CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742450A>G" "" "likely benign" "" "0000535060" "0" "50" "8" "61655091" "61655091" "subst" "0" "01943" "CHD7_000278" "g.61655091T>A" "" "" "" "CHD7(NM_017780.2):c.1100T>A (p.I367N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742532T>A" "" "VUS" "" "0000535061" "0" "30" "8" "61655161" "61655161" "subst" "4.06577E-5" "02325" "CHD7_000279" "g.61655161T>C" "" "" "" "CHD7(NM_017780.2):c.1170T>C (p.Y390=), CHD7(NM_017780.4):c.1170T>C (p.Y390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742602T>C" "" "likely benign" "" "0000535062" "0" "30" "8" "61655388" "61655388" "subst" "0.00101723" "01943" "CHD7_000025" "g.61655388C>T" "" "" "" "CHD7(NM_017780.2):c.1397C>T (p.S466L), CHD7(NM_017780.3):c.1397C>T (p.(Ser466Leu)), CHD7(NM_017780.4):c.1397C>T (p.S466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742829C>T" "" "likely benign" "" "0000535063" "0" "50" "8" "61655634" "61655634" "subst" "3.6843E-5" "02327" "CHD7_000280" "g.61655634C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60743075C>T" "" "VUS" "" "0000535064" "0" "90" "8" "61655658" "61655658" "subst" "0" "02327" "CHD7_000281" "g.61655658T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60743099T>C" "" "pathogenic" "" "0000535066" "0" "10" "8" "61693567" "61693567" "subst" "1.46523E-5" "02330" "CHD7_000283" "g.61693567G>C" "" "" "" "CHD7(NM_017780.4):c.1674G>C (p.P558=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781008G>C" "" "benign" "" "0000535067" "0" "30" "8" "61693690" "61693692" "del" "0" "01943" "CHD7_000284" "g.61693690_61693692del" "" "" "" "CHD7(NM_017780.2):c.1797_1799delGAA (p.K602del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781131_60781133del" "" "likely benign" "" "0000535068" "0" "90" "8" "61693819" "61693822" "del" "0" "02327" "CHD7_000285" "g.61693819_61693822del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781260_60781263del" "" "pathogenic" "" "0000535069" "0" "30" "8" "61693838" "61693838" "subst" "0" "01804" "CHD7_000286" "g.61693838G>A" "" "" "" "CHD7(NM_017780.3):c.1945G>A (p.(Ala649Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781279G>A" "" "likely benign" "" "0000535070" "0" "50" "8" "61693851" "61693851" "subst" "0.000297672" "01943" "CHD7_000287" "g.61693851C>T" "" "" "" "CHD7(NM_017780.2):c.1958C>T (p.P653L), CHD7(NM_017780.4):c.1958C>T (p.P653L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781292C>T" "" "VUS" "" "0000535071" "0" "50" "8" "61693860" "61693860" "subst" "0" "01943" "CHD7_000288" "g.61693860C>G" "" "" "" "CHD7(NM_017780.2):c.1967C>G (p.P656R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781301C>G" "" "VUS" "" "0000535073" "0" "30" "8" "61693946" "61693951" "dup" "0" "02325" "CHD7_000114" "g.61693946_61693951dup" "" "" "" "CHD7(NM_017780.2):c.2053_2058dupGCAAAA (p.A685_K686dup), CHD7(NM_017780.4):c.2053_2058dup (p.(Ala685_Lys686dup)), CHD7(NM_017780.4):c.2053_2058dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781387_60781392dup" "" "likely benign" "" "0000535074" "0" "10" "8" "61693946" "61693951" "dup" "0" "01943" "CHD7_000114" "g.61693946_61693951dup" "" "" "" "CHD7(NM_017780.2):c.2053_2058dupGCAAAA (p.A685_K686dup), CHD7(NM_017780.4):c.2053_2058dup (p.(Ala685_Lys686dup)), CHD7(NM_017780.4):c.2053_2058dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781387_60781392dup" "" "benign" "" "0000535075" "0" "10" "8" "61693946" "61693951" "dup" "0" "02326" "CHD7_000114" "g.61693946_61693951dup" "" "" "" "CHD7(NM_017780.2):c.2053_2058dupGCAAAA (p.A685_K686dup), CHD7(NM_017780.4):c.2053_2058dup (p.(Ala685_Lys686dup)), CHD7(NM_017780.4):c.2053_2058dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781387_60781392dup" "" "benign" "" "0000535076" "0" "10" "8" "61693960" "61693960" "subst" "0.000658165" "02330" "CHD7_000115" "g.61693960G>A" "" "" "" "CHD7(NM_017780.2):c.2067G>A (p.T689=), CHD7(NM_017780.4):c.2067G>A (p.T689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781401G>A" "" "benign" "" "0000535077" "0" "10" "8" "61707572" "61707572" "subst" "0.0124974" "02330" "CHD7_000118" "g.61707572T>C" "" "" "" "CHD7(NM_017780.4):c.2124T>C (p.S708=, p.(Ser708=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795013T>C" "" "benign" "" "0000535078" "0" "30" "8" "61707603" "61707603" "subst" "0" "02330" "CHD7_000290" "g.61707603A>G" "" "" "" "CHD7(NM_017780.4):c.2155A>G (p.T719A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795044A>G" "" "likely benign" "" "0000535079" "0" "30" "8" "61707633" "61707633" "subst" "0.000333225" "01943" "CHD7_000291" "g.61707633A>G" "" "" "" "CHD7(NM_017780.2):c.2185A>G (p.K729E), CHD7(NM_017780.3):c.2185A>G (p.(Lys729Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795074A>G" "" "likely benign" "" "0000535080" "0" "50" "8" "61707633" "61707633" "subst" "0.000333225" "01804" "CHD7_000291" "g.61707633A>G" "" "" "" "CHD7(NM_017780.2):c.2185A>G (p.K729E), CHD7(NM_017780.3):c.2185A>G (p.(Lys729Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795074A>G" "" "VUS" "" "0000535081" "0" "30" "8" "61707633" "61707633" "subst" "0.000333225" "02326" "CHD7_000291" "g.61707633A>G" "" "" "" "CHD7(NM_017780.2):c.2185A>G (p.K729E), CHD7(NM_017780.3):c.2185A>G (p.(Lys729Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795074A>G" "" "likely benign" "" "0000535082" "0" "90" "8" "61707687" "61707687" "subst" "0" "02327" "CHD7_000039" "g.61707687G>A" "" "" "" "CHD7(NM_017780.2):c.2238+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795128G>A" "" "pathogenic" "" "0000535085" "0" "10" "8" "61713127" "61713132" "dup" "0" "01943" "CHD7_000293" "g.61713127_61713132dup" "" "" "" "CHD7(NM_017780.2):c.2376+44_2376+49dupGGACTT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60800568_60800573dup" "" "benign" "" "0000535087" "0" "50" "8" "61714114" "61714114" "subst" "0" "02327" "CHD7_000295" "g.61714114G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60801555G>A" "" "VUS" "" "0000535089" "0" "70" "8" "61728993" "61728993" "subst" "0" "02325" "CHD7_000296" "g.61728993A>G" "" "" "" "CHD7(NM_017780.4):c.2546A>G (p.D849G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60816434A>G" "" "likely pathogenic" "" "0000535090" "0" "10" "8" "61732552" "61732552" "del" "0" "02327" "CHD7_000045" "g.61732552del" "" "" "" "CHD7(NM_017780.2):c.2614-14delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60819993del" "" "benign" "" "0000535091" "0" "30" "8" "61732632" "61732632" "subst" "0.00334188" "01943" "CHD7_000047" "g.61732632A>G" "" "" "" "CHD7(NM_017780.2):c.2680A>G (p.T894A), CHD7(NM_017780.3):c.2680A>G (p.(Thr894Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60820073A>G" "" "likely benign" "" "0000535092" "0" "10" "8" "61732632" "61732632" "subst" "0.00334188" "02327" "CHD7_000047" "g.61732632A>G" "" "" "" "CHD7(NM_017780.2):c.2680A>G (p.T894A), CHD7(NM_017780.3):c.2680A>G (p.(Thr894Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60820073A>G" "" "benign" "" "0000535093" "0" "10" "8" "61734112" "61734113" "del" "0" "01943" "CHD7_000297" "g.61734112_61734113del" "" "" "" "CHD7(NM_017780.2):c.2698-237_2698-236delTA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60821553_60821554del" "" "benign" "" "0000535094" "0" "30" "8" "61734402" "61734402" "subst" "0.000331232" "02327" "CHD7_000050" "g.61734402G>A" "" "" "" "CHD7(NM_017780.2):c.2751G>A (p.T917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60821843G>A" "" "likely benign" "" "0000535095" "0" "30" "8" "61734494" "61734494" "subst" "0.000562957" "02327" "CHD7_000298" "g.61734494T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60821935T>C" "" "likely benign" "" "0000535096" "0" "30" "8" "61734602" "61734602" "subst" "0" "02327" "CHD7_000299" "g.61734602A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822043A>T" "" "likely benign" "" "0000535097" "0" "50" "8" "61735127" "61735127" "subst" "2.03216E-5" "02327" "CHD7_000300" "g.61735127A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822568A>G" "" "VUS" "" "0000535098" "0" "90" "8" "61735157" "61735157" "subst" "0" "02327" "CHD7_000301" "g.61735157C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822598C>G" "" "pathogenic" "" "0000535099" "0" "90" "8" "61735193" "61735193" "subst" "0" "01943" "CHD7_000146" "g.61735193A>G" "" "" "" "CHD7(NM_017780.2):c.3089A>G (p.N1030S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822634A>G" "" "pathogenic" "" "0000535100" "0" "50" "8" "61735262" "61735262" "subst" "0" "02327" "CHD7_000302" "g.61735262G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822703G>A" "" "VUS" "" "0000535101" "0" "30" "8" "61736394" "61736394" "subst" "0.00215167" "02327" "CHD7_000056" "g.61736394T>C" "" "" "" "CHD7(NM_017780.2):c.3202-5T>C, CHD7(NM_017780.3):c.3202-5T>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60823835T>C" "" "likely benign" "" "0000535102" "0" "30" "8" "61736413" "61736413" "subst" "4.06984E-6" "02327" "CHD7_000303" "g.61736413G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60823854G>A" "" "likely benign" "" "0000535103" "0" "90" "8" "61736446" "61736447" "dup" "0" "01943" "CHD7_000304" "g.61736446_61736447dup" "" "" "" "CHD7(NM_017780.2):c.3249_3250dupAT (p.F1084Yfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60823887_60823888dup" "" "pathogenic" "" "0000535104" "0" "70" "8" "61736498" "61736498" "subst" "0" "02325" "CHD7_000058" "g.61736498T>C" "" "" "" "CHD7(NM_017780.2):c.3301T>C (p.C1101R), CHD7(NM_017780.4):c.3301T>C (p.C1101R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60823939T>C" "" "likely pathogenic" "" "0000535105" "0" "50" "8" "61741306" "61741306" "subst" "0" "01943" "CHD7_000305" "g.61741306C>G" "" "" "" "CHD7(NM_017780.2):c.3463C>G (p.R1155G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60828747C>G" "" "VUS" "" "0000535106" "0" "10" "8" "61743153" "61743153" "subst" "0.000152664" "02330" "CHD7_000063" "g.61743153C>T" "" "" "" "CHD7(NM_017780.2):c.3778+17C>T, CHD7(NM_017780.4):c.3778+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60830594C>T" "" "benign" "" "0000535107" "0" "30" "8" "61743153" "61743153" "subst" "0.000152664" "02326" "CHD7_000063" "g.61743153C>T" "" "" "" "CHD7(NM_017780.2):c.3778+17C>T, CHD7(NM_017780.4):c.3778+17C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60830594C>T" "" "likely benign" "" "0000535108" "0" "70" "8" "61748728" "61748728" "subst" "0" "02327" "CHD7_000306" "g.61748728T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60836169T>C" "" "likely pathogenic" "" "0000535109" "0" "50" "8" "61748826" "61748826" "subst" "6.11142E-5" "01943" "CHD7_000307" "g.61748826T>C" "" "" "" "CHD7(NM_017780.2):c.3973T>C (p.Y1325H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60836267T>C" "" "VUS" "" "0000535110" "0" "50" "8" "61748832" "61748832" "subst" "8.15468E-6" "02327" "CHD7_000308" "g.61748832A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60836273A>G" "" "VUS" "" "0000535111" "0" "30" "8" "61749394" "61749394" "subst" "4.87619E-5" "01943" "CHD7_000309" "g.61749394C>T" "" "" "" "CHD7(NM_017780.2):c.4008C>T (p.I1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60836835C>T" "" "likely benign" "" "0000535112" "0" "50" "8" "61749495" "61749497" "del" "0" "02325" "CHD7_000310" "g.61749495_61749497del" "" "" "" "CHD7(NM_017780.4):c.4109_4111delGTT (p.G1370_L1371delinsV)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60836936_60836938del" "" "VUS" "" "0000535113" "0" "50" "8" "61750635" "61750635" "subst" "8.06543E-6" "01804" "CHD7_000311" "g.61750635G>A" "" "" "" "CHD7(NM_017780.4):c.4354G>A (p.V1452I, p.(Val1452Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60838076G>A" "" "VUS" "" "0000535114" "0" "70" "8" "61750687" "61750687" "subst" "0" "01943" "CHD7_000176" "g.61750687A>G" "" "" "" "CHD7(NM_017780.2):c.4406A>G (p.Y1469C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60838128A>G" "" "likely pathogenic" "" "0000535115" "0" "10" "8" "61754190" "61754190" "subst" "0.00263365" "02330" "CHD7_000312" "g.61754190T>G" "" "" "" "CHD7(NM_017780.4):c.4534-13T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60841631T>G" "" "benign" "" "0000535116" "0" "50" "8" "61754322" "61754323" "ins" "0" "01943" "CHD7_000313" "g.61754322_61754323insTTG" "" "" "" "CHD7(NM_017780.2):c.4644+8_4644+9insGTT, CHD7(NM_017780.2):c.4644+9_4644+10insTTG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60841763_60841764insTTG" "" "VUS" "" "0000535117" "0" "30" "8" "61754481" "61754481" "subst" "2.06733E-5" "02327" "CHD7_000248" "g.61754481A>T" "" "" "" "CHD7(NM_017780.2):c.4720A>T (p.M1574L), CHD7(NM_017780.3):c.4720A>T (p.(Met1574Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60841922A>T" "" "likely benign" "" "0000535118" "0" "90" "8" "61754484" "61754484" "dup" "0" "02325" "CHD7_000314" "g.61754484dup" "" "" "" "CHD7(NM_017780.4):c.4723dupG (p.E1575Gfs*8)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60841925dup" "" "pathogenic" "" "0000535119" "0" "30" "8" "61754608" "61754608" "subst" "0" "01804" "CHD7_000249" "g.61754608A>G" "" "" "" "CHD7(NM_017780.3):c.4847A>G (p.(Tyr1616Cys)), CHD7(NM_017780.4):c.4847A>G (p.Y1616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60842049A>G" "" "likely benign" "" "0000535120" "0" "30" "8" "61754608" "61754608" "subst" "0" "02327" "CHD7_000249" "g.61754608A>G" "" "" "" "CHD7(NM_017780.3):c.4847A>G (p.(Tyr1616Cys)), CHD7(NM_017780.4):c.4847A>G (p.Y1616C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60842049A>G" "" "likely benign" "" "0000535121" "0" "30" "8" "61754617" "61754617" "subst" "0.000133314" "01943" "CHD7_000315" "g.61754617T>A" "" "" "" "CHD7(NM_017780.2):c.4850+6T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60842058T>A" "" "likely benign" "" "0000535122" "0" "50" "8" "61757457" "61757457" "subst" "2.04846E-5" "02325" "CHD7_000317" "g.61757457C>T" "" "" "" "CHD7(NM_017780.4):c.4885C>T (p.R1629C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60844898C>T" "" "VUS" "" "0000535123" "0" "10" "8" "61757805" "61757805" "subst" "0.00571791" "02330" "CHD7_000188" "g.61757805C>T" "" "" "" "CHD7(NM_017780.3):c.5051-4C>T (p.?), CHD7(NM_017780.4):c.5051-4C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60845246C>T" "" "benign" "" "0000535124" "0" "90" "8" "61757915" "61757915" "del" "0" "02327" "CHD7_000318" "g.61757915del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60845356del" "" "pathogenic" "" "0000535125" "0" "50" "8" "61757933" "61757933" "subst" "0" "01943" "CHD7_000319" "g.61757933C>G" "" "" "" "CHD7(NM_017780.2):c.5175C>G (p.D1725E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60845374C>G" "" "VUS" "" "0000535126" "0" "30" "8" "61761597" "61761597" "subst" "2.03128E-5" "02327" "CHD7_000320" "g.61761597T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60849038T>C" "" "likely benign" "" "0000535127" "0" "90" "8" "61761609" "61761609" "subst" "0" "01943" "CHD7_000321" "g.61761609G>A" "" "" "" "CHD7(NM_017780.2):c.5301-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60849050G>A" "" "pathogenic" "" "0000535128" "0" "10" "8" "61761619" "61761619" "subst" "8.93655E-5" "02330" "CHD7_000322" "g.61761619T>C" "" "" "" "CHD7(NM_017780.2):c.5310T>C (p.D1770=), CHD7(NM_017780.4):c.5310T>C (p.D1770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60849060T>C" "" "benign" "" "0000535129" "0" "30" "8" "61761619" "61761619" "subst" "8.93655E-5" "01943" "CHD7_000322" "g.61761619T>C" "" "" "" "CHD7(NM_017780.2):c.5310T>C (p.D1770=), CHD7(NM_017780.4):c.5310T>C (p.D1770=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60849060T>C" "" "likely benign" "" "0000535130" "0" "50" "8" "61761696" "61761696" "subst" "0" "01943" "CHD7_000324" "g.61761696T>C" "" "" "" "CHD7(NM_017780.2):c.5387T>C (p.I1796T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60849137T>C" "" "VUS" "" "0000535131" "0" "10" "8" "61763039" "61763039" "subst" "0" "02330" "CHD7_000325" "g.61763039G>T" "" "" "" "CHD7(NM_017780.4):c.5405-13G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60850480G>T" "" "benign" "" "0000535132" "0" "90" "8" "61763604" "61763604" "dup" "0" "01943" "CHD7_000326" "g.61763604dup" "" "" "" "CHD7(NM_017780.2):c.5548dupA (p.R1850Kfs*4)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60851045dup" "" "pathogenic" "" "0000535133" "0" "30" "8" "61764609" "61764609" "subst" "0.00137575" "01943" "CHD7_000206" "g.61764609C>G" "" "" "" "CHD7(NM_017780.2):c.5697C>G (p.G1899=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852050C>G" "" "likely benign" "" "0000535134" "0" "30" "8" "61764657" "61764657" "subst" "0.00019127" "01943" "CHD7_000327" "g.61764657G>A" "" "" "" "CHD7(NM_017780.2):c.5745G>A (p.R1915=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852098G>A" "" "likely benign" "" "0000535135" "0" "30" "8" "61764676" "61764676" "subst" "0" "02327" "CHD7_000328" "g.61764676C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852117C>T" "" "likely benign" "" "0000535136" "0" "50" "8" "61764757" "61764757" "subst" "8.15122E-6" "02326" "CHD7_000330" "g.61764757A>G" "" "" "" "CHD7(NM_017780.2):c.5845A>G (p.R1949G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852198A>G" "" "VUS" "" "0000535137" "0" "70" "8" "61765076" "61765076" "subst" "0" "02325" "CHD7_000331" "g.61765076G>C" "" "" "" "CHD7(NM_017780.4):c.5914G>C (p.A1972P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852517G>C" "" "likely pathogenic" "" "0000535138" "0" "70" "8" "61765194" "61765194" "subst" "0" "02327" "CHD7_000332" "g.61765194T>G" "" "" "" "CHD7(NM_017780.3):c.6032T>G (p.(Leu2011Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852635T>G" "" "likely pathogenic" "" "0000535139" "0" "90" "8" "61765232" "61765232" "subst" "0" "02327" "CHD7_000333" "g.61765232C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852673C>T" "" "pathogenic" "" "0000535140" "0" "10" "8" "61765273" "61765273" "subst" "0.0663851" "02330" "CHD7_000212" "g.61765273C>T" "" "" "" "CHD7(NM_017780.2):c.6103+8C>T, CHD7(NM_017780.4):c.6103+8C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852714C>T" "" "benign" "" "0000535141" "0" "30" "8" "61765391" "61765391" "subst" "0.000109889" "02327" "CHD7_000335" "g.61765391C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852832C>T" "" "likely benign" "" "0000535142" "0" "10" "8" "61765395" "61765395" "subst" "0.00656225" "02330" "CHD7_000257" "g.61765395C>T" "" "" "" "CHD7(NM_017780.2):c.6111C>T (p.P2037=), CHD7(NM_017780.4):c.6111C>T (p.P2037=, p.(Pro2037=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852836C>T" "" "benign" "" "0000535143" "0" "10" "8" "61765419" "61765419" "subst" "0.0308872" "02330" "CHD7_000214" "g.61765419G>A" "" "" "" "CHD7(NM_017780.2):c.6135G>A (p.P2045=), CHD7(NM_017780.4):c.6135G>A (p.P2045=, p.(Pro2045=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852860G>A" "" "benign" "" "0000535144" "0" "90" "8" "61765419" "61765422" "dup" "0" "01943" "CHD7_000336" "g.61765419_61765422dup" "" "" "" "CHD7(NM_017780.2):c.6135_6138dupGATC (p.T2047Dfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852860_60852863dup" "" "pathogenic" "" "0000535145" "0" "10" "8" "61765560" "61765560" "subst" "0.0613358" "02330" "CHD7_000216" "g.61765560G>A" "" "" "" "CHD7(NM_017780.2):c.6276G>A (p.E2092=), CHD7(NM_017780.4):c.6276G>A (p.E2092=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853001G>A" "" "benign" "" "0000535146" "0" "10" "8" "61765566" "61765566" "subst" "0.00427507" "02330" "CHD7_000217" "g.61765566A>G" "" "" "" "CHD7(NM_017780.2):c.6282A>G (p.G2094=), CHD7(NM_017780.4):c.6282A>G (p.G2094=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853007A>G" "" "benign" "" "0000535147" "0" "30" "8" "61765676" "61765676" "subst" "1.62632E-5" "02327" "CHD7_000337" "g.61765676T>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853117T>G" "" "likely benign" "" "0000535149" "0" "30" "8" "61765937" "61765937" "subst" "1.03235E-5" "02327" "CHD7_000339" "g.61765937T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853378T>C" "" "likely benign" "" "0000535150" "0" "30" "8" "61765995" "61765995" "subst" "0.000115146" "01943" "CHD7_000340" "g.61765995C>T" "" "" "" "CHD7(NM_017780.2):c.6711C>T (p.S2237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853436C>T" "" "likely benign" "" "0000535151" "0" "30" "8" "61766065" "61766065" "subst" "1.17266E-5" "02327" "CHD7_000341" "g.61766065G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853506G>T" "" "likely benign" "" "0000535152" "0" "50" "8" "61768611" "61768625" "dup" "0" "02329" "CHD7_000342" "g.61768611_61768625dup" "" "" "" "CHD7(NM_017780.4):c.7014_7028dupGATGTTTGATTTCCA (p.M2339_Q2343dup)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856052_60856066dup" "" "VUS" "" "0000535154" "0" "50" "8" "61768704" "61768704" "subst" "8.57096E-6" "02325" "CHD7_000344" "g.61768704C>A" "" "" "" "CHD7(NM_017780.4):c.7107C>A (p.V2369=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856145C>A" "" "VUS" "" "0000535155" "0" "30" "8" "61769117" "61769117" "subst" "0.000264069" "01943" "CHD7_000230" "g.61769117G>A" "" "" "" "CHD7(NM_017780.2):c.7278G>A (p.Q2426=), CHD7(NM_017780.4):c.7278G>A (p.(Gln2426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856558G>A" "" "likely benign" "" "0000535156" "0" "90" "8" "61769121" "61769121" "subst" "0" "01943" "CHD7_000231" "g.61769121C>T" "" "" "" "CHD7(NM_017780.2):c.7282C>T (p.R2428*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856562C>T" "" "pathogenic" "" "0000535157" "0" "50" "8" "61769149" "61769149" "subst" "0" "01943" "CHD7_000345" "g.61769149G>T" "" "" "" "CHD7(NM_017780.2):c.7310G>T (p.G2437V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856590G>T" "" "VUS" "" "0000535158" "0" "50" "8" "61769192" "61769192" "subst" "4.06144E-6" "02327" "CHD7_000346" "g.61769192A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856633A>G" "" "VUS" "" "0000535159" "0" "10" "8" "61769195" "61769195" "subst" "0.0461982" "02330" "CHD7_000084" "g.61769195A>G" "" "" "" "CHD7(NM_017780.2):c.7356A>G (p.T2452=), CHD7(NM_017780.3):c.7356A>G (p.(=)), CHD7(NM_017780.4):c.7356A>G (p.T2452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856636A>G" "" "benign" "" "0000535161" "0" "90" "8" "61769290" "61769290" "dup" "0" "01943" "CHD7_000347" "g.61769290dup" "" "" "" "CHD7(NM_017780.2):c.7451dupT (p.L2485Afs*15)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856731dup" "" "pathogenic" "" "0000535162" "0" "30" "8" "61769418" "61769418" "subst" "0.00203629" "02330" "CHD7_000086" "g.61769418A>C" "" "" "" "CHD7(NM_017780.2):c.7579A>C (p.M2527L), CHD7(NM_017780.4):c.7579A>C (p.M2527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856859A>C" "" "likely benign" "" "0000535163" "0" "30" "8" "61773526" "61773526" "subst" "4.06114E-6" "02327" "CHD7_000348" "g.61773526C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60860967C>T" "" "likely benign" "" "0000535165" "0" "10" "8" "61773537" "61773537" "subst" "4.06105E-6" "02330" "CHD7_000350" "g.61773537A>G" "" "" "" "CHD7(NM_017780.4):c.7683A>G (p.G2561=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60860978A>G" "" "benign" "" "0000535166" "0" "30" "8" "61774752" "61774752" "subst" "0.000185506" "02327" "CHD7_000351" "g.61774752C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60862193C>T" "" "likely benign" "" "0000535167" "0" "50" "8" "61774804" "61774804" "subst" "0" "02327" "CHD7_000352" "g.61774804G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60862245G>A" "" "VUS" "" "0000535168" "0" "50" "8" "61777602" "61777602" "subst" "0" "02329" "CHD7_000353" "g.61777602C>T" "" "" "" "CHD7(NM_017780.4):c.8104C>T (p.R2702C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865043C>T" "" "VUS" "" "0000535169" "0" "30" "8" "61777603" "61777603" "subst" "0" "02327" "CHD7_000354" "g.61777603G>A" "" "" "" "CHD7(NM_017780.3):c.8105G>A (p.(Arg2702His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865044G>A" "" "likely benign" "" "0000535170" "0" "30" "8" "61777639" "61777639" "subst" "0" "01943" "CHD7_000355" "g.61777639C>T" "" "" "" "CHD7(NM_017780.2):c.8141C>T (p.A2714V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865080C>T" "" "likely benign" "" "0000535171" "0" "30" "8" "61777639" "61777639" "subst" "0" "02327" "CHD7_000355" "g.61777639C>T" "" "" "" "CHD7(NM_017780.2):c.8141C>T (p.A2714V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865080C>T" "" "likely benign" "" "0000535172" "0" "30" "8" "61777748" "61777748" "subst" "0.000215521" "01943" "CHD7_000356" "g.61777748T>G" "" "" "" "CHD7(NM_017780.2):c.8250T>G (p.F2750L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865189T>G" "" "likely benign" "" "0000535173" "0" "30" "8" "61777864" "61777864" "subst" "7.07643E-5" "02325" "CHD7_000357" "g.61777864C>T" "" "" "" "CHD7(NM_017780.2):c.8366C>T (p.A2789V), CHD7(NM_017780.4):c.8366C>T (p.A2789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865305C>T" "" "likely benign" "" "0000535174" "0" "30" "8" "61777914" "61777914" "subst" "0.00118946" "01943" "CHD7_000006" "g.61777914C>G" "" "" "" "CHD7(NM_017780.2):c.8416C>G (p.L2806V), CHD7(NM_017780.3):c.8416C>G (p.(Leu2806Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865355C>G" "" "likely benign" "" "0000535175" "0" "30" "8" "61777914" "61777914" "subst" "0.00118946" "01804" "CHD7_000006" "g.61777914C>G" "" "" "" "CHD7(NM_017780.2):c.8416C>G (p.L2806V), CHD7(NM_017780.3):c.8416C>G (p.(Leu2806Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865355C>G" "" "likely benign" "" "0000535176" "0" "10" "8" "61777937" "61777937" "subst" "0.000424928" "02327" "CHD7_000358" "g.61777937C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865378C>T" "" "benign" "" "0000535177" "0" "30" "8" "61777975" "61777975" "subst" "0.00101223" "02327" "CHD7_000359" "g.61777975A>G" "" "" "" "CHD7(NM_017780.2):c.8477A>G (p.N2826S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865416A>G" "" "likely benign" "" "0000535178" "0" "30" "8" "61778288" "61778288" "subst" "0.000559732" "01943" "CHD7_000360" "g.61778288C>T" "" "" "" "CHD7(NM_017780.2):c.8790C>T (p.A2930=), CHD7(NM_017780.4):c.8790C>T (p.A2930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865729C>T" "" "likely benign" "" "0000535179" "0" "10" "8" "61778448" "61778448" "subst" "0.00400104" "02330" "CHD7_000095" "g.61778448C>T" "" "" "" "CHD7(NM_001316690.1):c.2803C>T (p.(Leu935Phe)), CHD7(NM_017780.2):c.8950C>T (p.L2984F), CHD7(NM_017780.4):c.8950C>T (p.L2984F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865889C>T" "" "benign" "" "0000535180" "0" "30" "8" "61778448" "61778448" "subst" "0.00400104" "01804" "CHD7_000095" "g.61778448C>T" "" "" "" "CHD7(NM_001316690.1):c.2803C>T (p.(Leu935Phe)), CHD7(NM_017780.2):c.8950C>T (p.L2984F), CHD7(NM_017780.4):c.8950C>T (p.L2984F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865889C>T" "" "likely benign" "" "0000601056" "0" "70" "8" "61757624" "61757624" "subst" "0" "03469" "CHD7_000361" "g.61757624T>G" "" "" "" "" "" "De novo" "yes" "" "0" "" "" "g.60845065T>G" "" "pathogenic (dominant)" "" "0000611660" "0" "50" "8" "61654094" "61654094" "subst" "0" "02327" "CHD7_000362" "g.61654094A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741535A>C" "" "VUS" "" "0000611661" "0" "30" "8" "61654268" "61654268" "subst" "0.000182873" "02327" "CHD7_000363" "g.61654268A>G" "" "" "" "CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741709A>G" "" "likely benign" "" "0000611662" "0" "30" "8" "61655401" "61655401" "subst" "1.63808E-5" "02327" "CHD7_000364" "g.61655401A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742842A>G" "" "likely benign" "" "0000611663" "0" "30" "8" "61655493" "61655493" "subst" "4.08827E-6" "02327" "CHD7_000365" "g.61655493A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742934A>G" "" "likely benign" "" "0000611664" "0" "10" "8" "61655527" "61655527" "subst" "0.000795003" "02330" "CHD7_000366" "g.61655527A>G" "" "" "" "CHD7(NM_017780.4):c.1536A>G (p.P512=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60742968A>G" "" "benign" "" "0000611665" "0" "50" "8" "61693706" "61693706" "subst" "1.27412E-5" "01943" "CHD7_000367" "g.61693706C>G" "" "" "" "CHD7(NM_017780.2):c.1813C>G (p.H605D), CHD7(NM_017780.3):c.1813C>G (p.(His605Asp)), CHD7(NM_017780.4):c.1813C>G (p.H605D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781147C>G" "" "VUS" "" "0000611666" "0" "50" "8" "61693803" "61693803" "subst" "0" "01943" "CHD7_000368" "g.61693803C>G" "" "" "" "CHD7(NM_017780.2):c.1910C>G (p.S637C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781244C>G" "" "VUS" "" "0000611667" "0" "70" "8" "61720836" "61720836" "subst" "0" "02325" "CHD7_000370" "g.61720836G>A" "" "" "" "CHD7(NM_017780.4):c.2498+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60808277G>A" "" "likely pathogenic" "" "0000611668" "0" "70" "8" "61720840" "61720840" "del" "0" "02325" "CHD7_000371" "g.61720840del" "" "" "" "CHD7(NM_017780.4):c.2498+9delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60808281del" "" "likely pathogenic" "" "0000611669" "0" "30" "8" "61735155" "61735155" "subst" "0" "02327" "CHD7_000372" "g.61735155C>A" "" "" "" "CHD7(NM_017780.2):c.3051C>A (p.G1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822596C>A" "" "likely benign" "" "0000611670" "0" "50" "8" "61742923" "61742923" "subst" "0" "02327" "CHD7_000374" "g.61742923C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60830364C>A" "" "VUS" "" "0000611671" "0" "50" "8" "61748826" "61748826" "subst" "6.11142E-5" "02327" "CHD7_000307" "g.61748826T>C" "" "" "" "CHD7(NM_017780.2):c.3973T>C (p.Y1325H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60836267T>C" "" "VUS" "" "0000611672" "0" "30" "8" "61750358" "61750358" "subst" "4.06587E-6" "02327" "CHD7_000375" "g.61750358A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60837799A>G" "" "likely benign" "" "0000611673" "0" "30" "8" "61754555" "61754555" "subst" "0" "01943" "CHD7_000376" "g.61754555A>G" "" "" "" "CHD7(NM_017780.2):c.4794A>G (p.S1598=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60841996A>G" "" "likely benign" "" "0000611674" "0" "50" "8" "61757872" "61757872" "subst" "2.43778E-5" "01943" "CHD7_000377" "g.61757872C>T" "" "" "" "CHD7(NM_017780.2):c.5114C>T (p.P1705L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60845313C>T" "" "VUS" "" "0000611675" "0" "70" "8" "61761698" "61761698" "subst" "0" "02327" "CHD7_000378" "g.61761698G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60849139G>A" "" "likely pathogenic" "" "0000611676" "0" "30" "8" "61764760" "61764760" "subst" "0.000232475" "02327" "CHD7_000379" "g.61764760G>A" "" "" "" "CHD7(NM_017780.2):c.5848G>A (p.A1950T), CHD7(NM_017780.4):c.5848G>A (p.A1950T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852201G>A" "" "likely benign" "" "0000611678" "0" "10" "8" "61765407" "61765407" "subst" "0" "02330" "CHD7_000381" "g.61765407C>T" "" "" "" "CHD7(NM_017780.2):c.6123C>T (p.S2041=), CHD7(NM_017780.4):c.6123C>T (p.S2041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852848C>T" "" "benign" "" "0000611679" "0" "50" "8" "61765739" "61765739" "subst" "0" "01943" "CHD7_000382" "g.61765739A>G" "" "" "" "CHD7(NM_017780.2):c.6455A>G (p.Q2152R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853180A>G" "" "VUS" "" "0000611680" "0" "50" "8" "61765760" "61765760" "subst" "0" "02327" "CHD7_000383" "g.61765760C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853201C>G" "" "VUS" "" "0000611681" "0" "30" "8" "61767010" "61767010" "subst" "0" "01943" "CHD7_000384" "g.61767010C>T" "" "" "" "CHD7(NM_017780.2):c.6864C>T (p.Y2288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60854451C>T" "" "likely benign" "" "0000611683" "0" "50" "8" "61768694" "61768694" "subst" "8.4679E-6" "02327" "CHD7_000385" "g.61768694T>G" "" "" "" "CHD7(NM_017780.3):c.7097T>G (p.(Leu2366Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856135T>G" "" "VUS" "" "0000611684" "0" "30" "8" "61769195" "61769195" "subst" "0.0461982" "01804" "CHD7_000084" "g.61769195A>G" "" "" "" "CHD7(NM_017780.2):c.7356A>G (p.T2452=), CHD7(NM_017780.3):c.7356A>G (p.(=)), CHD7(NM_017780.4):c.7356A>G (p.T2452=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856636A>G" "" "likely benign" "" "0000611685" "0" "30" "8" "61769418" "61769418" "subst" "0.00203629" "02325" "CHD7_000086" "g.61769418A>C" "" "" "" "CHD7(NM_017780.2):c.7579A>C (p.M2527L), CHD7(NM_017780.4):c.7579A>C (p.M2527L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856859A>C" "" "likely benign" "" "0000611687" "0" "10" "8" "61777688" "61777688" "subst" "0.000100926" "02330" "CHD7_000390" "g.61777688G>A" "" "" "" "CHD7(NM_017780.4):c.8190G>A (p.A2730=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865129G>A" "" "benign" "" "0000611688" "0" "30" "8" "61777805" "61777805" "subst" "4.33178E-6" "02327" "CHD7_000391" "g.61777805G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865246G>A" "" "likely benign" "" "0000611689" "0" "30" "8" "61777820" "61777820" "subst" "7.81026E-5" "02327" "CHD7_000392" "g.61777820C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865261C>G" "" "likely benign" "" "0000611690" "0" "50" "8" "61777860" "61777860" "subst" "4.17467E-6" "02327" "CHD7_000393" "g.61777860G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865301G>A" "" "VUS" "" "0000611691" "0" "30" "8" "61778054" "61778054" "subst" "1.62477E-5" "02327" "CHD7_000394" "g.61778054C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865495C>T" "" "likely benign" "" "0000622079" "0" "50" "8" "61707657" "61707659" "del" "0" "01943" "CHD7_000369" "g.61707657_61707659del" "" "" "" "CHD7(NM_017780.2):c.2209_2211delCCT (p.P737del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60795098_60795100del" "" "VUS" "" "0000622080" "0" "50" "8" "61736496" "61736496" "subst" "5.69078E-5" "01943" "CHD7_000373" "g.61736496G>A" "" "" "" "CHD7(NM_017780.2):c.3299G>A (p.R1100H), CHD7(NM_017780.4):c.3299G>A (p.R1100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60823937G>A" "" "VUS" "" "0000622081" "0" "30" "8" "61769012" "61769012" "subst" "0" "02326" "CHD7_000386" "g.61769012C>T" "" "" "" "CHD7(NM_017780.2):c.7173C>T (p.A2391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856453C>T" "" "likely benign" "" "0000622082" "0" "30" "8" "61769060" "61769060" "subst" "0" "01943" "CHD7_000387" "g.61769060C>A" "" "" "" "CHD7(NM_017780.2):c.7221C>A (p.I2407=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856501C>A" "" "likely benign" "" "0000622083" "0" "30" "8" "61769390" "61769390" "subst" "0.000479188" "01943" "CHD7_000388" "g.61769390A>G" "" "" "" "CHD7(NM_017780.2):c.7551A>G (p.K2517=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60856831A>G" "" "likely benign" "" "0000652507" "1" "30" "8" "61655556" "61655556" "subst" "0.00257243" "03575" "CHD7_000027" "g.61655556G>T" "12/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "12 heterozygous, no homozygous; {DB:CLININrs142962579}" "Germline" "" "rs142962579" "0" "" "" "g.60742997G>T" "" "likely benign" "" "0000652508" "1" "90" "8" "61757487" "61757487" "del" "0" "03575" "CHD7_000396" "g.61757487del" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININCHD7-chr8-61757487}" "Germline" "" "" "0" "" "" "g.60844928del" "" "pathogenic" "" "0000652509" "1" "10" "8" "61765273" "61765273" "subst" "0.0663851" "03575" "CHD7_000212" "g.61765273C>T" "189/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "189 heterozygous; {DB:CLININrs3763592}" "Germline" "" "rs3763592" "0" "" "" "g.60852714C>T" "" "benign" "" "0000652510" "1" "30" "8" "61777914" "61777914" "subst" "0.00118946" "03575" "CHD7_000006" "g.61777914C>G" "1/2789 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs45521933}" "Germline" "" "rs45521933" "0" "" "" "g.60865355C>G" "" "likely benign" "" "0000653182" "1" "30" "8" "61757805" "61757805" "subst" "0.00571791" "03575" "CHD7_000188" "g.61757805C>T" "22/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "22 heterozygous, no homozygous; {DB:CLININrs71640288}" "Germline" "" "rs71640288" "0" "" "" "g.60845246C>T" "" "likely benign" "" "0000653305" "1" "90" "8" "61754303" "61754303" "del" "0" "03575" "CHD7_000395" "g.61754303del" "1/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs587783443}" "Germline" "" "rs587783443" "0" "" "" "g.60841744del" "" "pathogenic" "" "0000656125" "0" "30" "8" "61654268" "61654268" "subst" "0.000182873" "02325" "CHD7_000363" "g.61654268A>G" "" "" "" "CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741709A>G" "" "likely benign" "" "0000656126" "0" "50" "8" "61654366" "61654366" "subst" "0" "01943" "CHD7_000397" "g.61654366C>G" "" "" "" "CHD7(NM_017780.2):c.375C>G (p.V125=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60741807C>G" "" "VUS" "" "0000656127" "0" "30" "8" "61693960" "61693960" "subst" "0.000658165" "01943" "CHD7_000115" "g.61693960G>A" "" "" "" "CHD7(NM_017780.2):c.2067G>A (p.T689=), CHD7(NM_017780.4):c.2067G>A (p.T689=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60781401G>A" "" "likely benign" "" "0000656128" "0" "30" "8" "61713063" "61713063" "subst" "8.13041E-6" "01943" "CHD7_000398" "g.61713063C>T" "" "" "" "CHD7(NM_017780.2):c.2355C>T (p.N785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60800504C>T" "" "likely benign" "" "0000656129" "0" "30" "8" "61734402" "61734402" "subst" "0.000331232" "02326" "CHD7_000050" "g.61734402G>A" "" "" "" "CHD7(NM_017780.2):c.2751G>A (p.T917=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60821843G>A" "" "likely benign" "" "0000656130" "0" "50" "8" "61735202" "61735202" "subst" "0" "02329" "CHD7_000399" "g.61735202G>A" "" "" "" "CHD7(NM_017780.4):c.3098G>A (p.R1033K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60822643G>A" "" "VUS" "" "0000656131" "0" "30" "8" "61754630" "61754630" "subst" "0" "02326" "CHD7_000400" "g.61754630G>A" "" "" "" "CHD7(NM_017780.2):c.4850+19G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60842071G>A" "" "likely benign" "" "0000656132" "0" "30" "8" "61763143" "61763143" "subst" "3.68584E-5" "01943" "CHD7_000401" "g.61763143G>A" "" "" "" "CHD7(NM_017780.2):c.5496G>A (p.E1832=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60850584G>A" "" "likely benign" "" "0000656133" "0" "50" "8" "61764760" "61764760" "subst" "0.000232475" "01943" "CHD7_000379" "g.61764760G>A" "" "" "" "CHD7(NM_017780.2):c.5848G>A (p.A1950T), CHD7(NM_017780.4):c.5848G>A (p.A1950T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852201G>A" "" "VUS" "" "0000656134" "0" "30" "8" "61765500" "61765500" "subst" "0.000349386" "01943" "CHD7_000402" "g.61765500C>G" "" "" "" "CHD7(NM_017780.2):c.6216C>G (p.P2072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60852941C>G" "" "likely benign" "" "0000656135" "0" "30" "8" "61765569" "61765569" "subst" "0" "02326" "CHD7_000403" "g.61765569G>T" "" "" "" "CHD7(NM_017780.2):c.6285G>T (p.R2095=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853010G>T" "" "likely benign" "" "0000656136" "0" "90" "8" "61765576" "61765576" "subst" "0" "02327" "CHD7_000259" "g.61765576C>T" "" "" "" "CHD7(NM_017780.2):c.6292C>T (p.R2098*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853017C>T" "" "pathogenic" "" "0000656137" "0" "10" "8" "61765944" "61765944" "subst" "0.00109978" "02330" "CHD7_000074" "g.61765944T>G" "" "" "" "CHD7(NM_017780.2):c.6660T>G (p.G2220=), CHD7(NM_017780.4):c.6660T>G (p.G2220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60853385T>G" "" "benign" "" "0000656138" "0" "30" "8" "61766968" "61766968" "subst" "0.000516201" "01943" "CHD7_000404" "g.61766968T>C" "" "" "" "CHD7(NM_017780.2):c.6822T>C (p.A2274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60854409T>C" "" "likely benign" "" "0000656139" "0" "30" "8" "61777853" "61777853" "subst" "3.78616E-5" "02326" "CHD7_000405" "g.61777853C>T" "" "" "" "CHD7(NM_017780.2):c.8355C>T (p.A2785=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.60865294C>T" "" "likely benign" "" "0000667191" "0" "90" "8" "61774803" "61774803" "subst" "0" "01164" "CHD7_000406" "g.61774803C>T" "" "" "" "" "ACMG grading: PM1,PM2,PP1,PP3; Davis et al. 2003. Neruomuscul Disord 13: 151; Shepherd et al. 2004. J 41: 33; Zhou et al. 2007. Brain 130: 2024; Wu et al. 2006. Brain 129: 1470; Maggi et al. 2013. Neuromuscul Disord 23: 195" "Germline" "" "" "0" "" "" "g.60862244C>T" "" "pathogenic" "ACMG" "0000667502" "0" "90" "8" "61757925" "61757925" "dup" "0" "00006" "CHD7_000407" "g.61757925dup" "" "{PMID:Helbig 2016:26795593}" "" "5165_5166insC" "" "De novo" "" "" "0" "" "" "g.60845366dup" "" "pathogenic (dominant)" "ACMG" "0000668271" "0" "70" "8" "61735205" "61735239" "dup" "0" "03698" "CHD7_000408" "g.61735205_61735239dup" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60822646_60822680dup" "" "likely pathogenic" "ACMG" "0000668272" "0" "70" "8" "61754611" "61754611" "subst" "0" "03698" "CHD7_000409" "g.61754611G>T" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60842052G>T" "" "likely pathogenic" "ACMG" "0000668273" "0" "70" "8" "61757541" "61757541" "del" "0" "03698" "CHD7_000410" "g.61757541del" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60844982del" "" "likely pathogenic" "ACMG" "0000668274" "0" "70" "8" "61735308" "61735313" "del" "0" "03698" "CHD7_000411" "g.61735308_61735313del" "" "{PMID:Biard 2021:33662639}" "" "" "" "De novo" "" "" "0" "" "" "g.60822749_60822754del" "" "likely pathogenic" "ACMG" "0000668944" "0" "70" "8" "61654746" "61654746" "subst" "0" "03698" "CHD7_000413" "g.61654746C>A" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "" "" "" "" "" "likely pathogenic" "ACMG" "0000668945" "0" "70" "8" "61654525" "61654525" "del" "0" "03698" "CHD7_000412" "g.61654525del" "" "{PMID:Biard 2021:33662639}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000668946" "0" "70" "8" "61741232" "61741235" "dup" "0" "03698" "CHD7_000414" "g.61741232_61741235dup" "" "{PMID:Biard 2021:33662639}" "" "" "" "De novo" "" "" "0" "" "" "" "" "likely pathogenic (dominant)" "ACMG" "0000670017" "3" "10" "8" "61765273" "61765273" "subst" "0.0663851" "03575" "CHD7_000212" "g.61765273C>T" "5/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "5 homozygous; {DB:CLININrs3763592}" "Germline" "" "rs3763592" "0" "" "" "g.60852714C>T" "" "benign" "" "0000673955" "0" "90" "8" "61765576" "61765576" "subst" "0" "03695" "CHD7_000259" "g.61765576C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "pathogenic" "" "0000674007" "0" "90" "8" "61777577" "61777578" "dup" "0" "01807" "CHD7_000415" "g.61777577_61777578dup" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000678409" "0" "50" "8" "61654008" "61654008" "subst" "0" "01943" "CHD7_000416" "g.61654008T>C" "" "" "" "CHD7(NM_017780.2):c.17T>C (p.M6T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000678410" "0" "30" "8" "61654599" "61654599" "subst" "2.84673E-5" "01943" "CHD7_000417" "g.61654599A>G" "" "" "" "CHD7(NM_017780.2):c.608A>G (p.H203R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678411" "0" "30" "8" "61694010" "61694010" "dup" "0" "02326" "CHD7_000034" "g.61694010dup" "" "" "" "CHD7(NM_017780.2):c.2096+21dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000678412" "0" "70" "8" "61750236" "61750236" "subst" "0" "01804" "CHD7_000418" "g.61750236A>G" "" "" "" "CHD7(NM_017780.3):c.4195A>G (p.(Arg1399Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000678413" "0" "90" "8" "61750395" "61750395" "subst" "0" "02325" "CHD7_000174" "g.61750395G>A" "" "" "" "CHD7(NM_017780.4):c.4353+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000678414" "0" "30" "8" "61757888" "61757888" "subst" "8.12618E-6" "01943" "CHD7_000419" "g.61757888C>T" "" "" "" "CHD7(NM_017780.2):c.5130C>T (p.A1710=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000683301" "0" "70" "8" "61714153" "61714153" "subst" "0" "00006" "CHD7_000420" "g.61714153G>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60801594G>T" "" "likely pathogenic (dominant)" "" "0000683302" "0" "70" "8" "61763879" "61763879" "subst" "0" "00006" "CHD7_000422" "g.61763879G>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60851320G>T" "" "likely pathogenic (dominant)" "" "0000683365" "0" "70" "8" "61763644" "61763644" "subst" "4.92562E-5" "00006" "CHD7_000421" "g.61763644C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60851085C>T" "" "likely pathogenic (dominant)" "" "0000690290" "0" "30" "8" "61654118" "61654118" "subst" "0.000301617" "01943" "CHD7_000423" "g.61654118A>G" "" "" "" "CHD7(NM_017780.2):c.127A>G (p.I43V), CHD7(NM_017780.3):c.127A>G (p.(Ile43Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690291" "0" "10" "8" "61654297" "61654297" "subst" "4.06392E-6" "02330" "CHD7_000424" "g.61654297C>T" "" "" "" "CHD7(NM_017780.4):c.306C>T (p.H102=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690292" "0" "10" "8" "61654300" "61654300" "subst" "0.001313" "02330" "CHD7_000101" "g.61654300G>A" "" "" "" "CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690293" "0" "10" "8" "61654648" "61654648" "subst" "0.0019703" "02330" "CHD7_000106" "g.61654648C>T" "" "" "" "CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690294" "0" "10" "8" "61707678" "61707678" "subst" "0.00102133" "02330" "CHD7_000038" "g.61707678G>A" "" "" "" "CHD7(NM_017780.4):c.2230G>A (p.G744S, p.(Gly744Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690295" "0" "30" "8" "61713015" "61713015" "subst" "1.21939E-5" "02326" "CHD7_000425" "g.61713015T>C" "" "" "" "CHD7(NM_017780.2):c.2307T>C (p.D769=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690296" "0" "30" "8" "61714084" "61714084" "subst" "0" "02325" "CHD7_000426" "g.61714084T>A" "" "" "" "CHD7(NM_017780.4):c.2377-3T>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690297" "0" "90" "8" "61732565" "61732565" "subst" "0" "01943" "CHD7_000427" "g.61732565G>A" "" "" "" "CHD7(NM_017780.2):c.2614-1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690298" "0" "30" "8" "61734614" "61734614" "subst" "5.28601E-5" "01943" "CHD7_000428" "g.61734614C>T" "" "" "" "CHD7(NM_017780.2):c.2867C>T (p.S956L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690299" "0" "50" "8" "61734619" "61734619" "subst" "0" "02325" "CHD7_000429" "g.61734619A>C" "" "" "" "CHD7(NM_017780.4):c.2872A>C (p.S958R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690300" "0" "70" "8" "61743103" "61743103" "subst" "0" "02327" "CHD7_000430" "g.61743103C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690301" "0" "90" "8" "61748650" "61748650" "del" "0" "02325" "CHD7_000431" "g.61748650del" "" "" "" "CHD7(NM_017780.4):c.3797delT (p.L1266Wfs*20)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000690302" "0" "70" "8" "61750635" "61750635" "subst" "8.06543E-6" "02327" "CHD7_000311" "g.61750635G>A" "" "" "" "CHD7(NM_017780.4):c.4354G>A (p.V1452I, p.(Val1452Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690303" "0" "30" "8" "61754327" "61754327" "subst" "1.62651E-5" "02326" "CHD7_000432" "g.61754327C>T" "" "" "" "CHD7(NM_017780.2):c.4644+14C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690304" "0" "10" "8" "61761616" "61761616" "subst" "0.0040258" "02330" "CHD7_000194" "g.61761616C>T" "" "" "" "CHD7(NM_017780.4):c.5307C>T (p.A1769=, p.(Ala1769=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690305" "0" "70" "8" "61765462" "61765462" "subst" "4.06187E-6" "02327" "CHD7_000433" "g.61765462C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690306" "0" "10" "8" "61765762" "61765762" "subst" "0.00103786" "02330" "CHD7_000069" "g.61765762G>A" "" "" "" "CHD7(NM_017780.4):c.6478G>A (p.A2160T, p.(Ala2160Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690307" "0" "10" "8" "61765797" "61765797" "subst" "0.000150798" "02330" "CHD7_000070" "g.61765797C>T" "" "" "" "CHD7(NM_017780.2):c.6513C>T (p.A2171=), CHD7(NM_017780.4):c.6513C>T (p.A2171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690308" "0" "30" "8" "61765797" "61765797" "subst" "0.000150798" "02326" "CHD7_000070" "g.61765797C>T" "" "" "" "CHD7(NM_017780.2):c.6513C>T (p.A2171=), CHD7(NM_017780.4):c.6513C>T (p.A2171=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000690309" "0" "50" "8" "61767069" "61767069" "subst" "1.2362E-5" "02325" "CHD7_000434" "g.61767069C>T" "" "" "" "CHD7(NM_017780.4):c.6923C>T (p.S2308L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000690310" "0" "70" "8" "61767082" "61767082" "subst" "0" "02327" "CHD7_000435" "g.61767082G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000690311" "0" "10" "8" "61769429" "61769429" "subst" "0.00120131" "02330" "CHD7_000087" "g.61769429A>G" "" "" "" "CHD7(NM_017780.4):c.7590A>G (p.K2530=, p.(Lys2530=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000690312" "0" "30" "8" "61778216" "61778216" "subst" "6.56394E-5" "01943" "CHD7_000436" "g.61778216C>T" "" "" "" "CHD7(NM_017780.2):c.8718C>T (p.S2906=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000698362" "0" "50" "8" "61763073" "61763073" "subst" "0" "00006" "CHD7_000437" "g.61763073T>C" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60850514T>C" "" "VUS" "ACMG" "0000698368" "0" "50" "8" "61742971" "61742971" "subst" "5.28039E-5" "00006" "CHD7_000007" "g.61742971A>G" "" "{PMID:Squeo 2020:32170002}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60830412A>G" "" "VUS" "ACMG" "0000699818" "0" "90" "8" "61757622" "61757622" "subst" "0" "00006" "CHD7_000186" "g.61757622G>A" "" "{PMID:Heidet 2017:28566479}" "" "" "" "Germline" "" "" "0" "" "" "g.60845063G>A" "" "pathogenic" "" "0000708488" "0" "90" "8" "61712927" "61712941" "del" "0" "00006" "CHD7_000438" "g.61712927_61712941del" "" "{PMID:Granadillo 2020:33184947}" "" "c.2239-20_2239-6delGTCTTGGGTTTTTGT" "variant initially missed but identified after detection of the CHD7-methylation signature and re-inspection of the CHD7 sequence" "De novo" "" "" "0" "CHD7-associated array methylation signature" "" "g.60800368_60800382del" "" "pathogenic (dominant)" "" "0000714146" "3" "30" "8" "61713127" "61713132" "dup" "0" "00006" "CHD7_000293" "g.61713127_61713132dup" "" "{PMID:Patel 2015:26426422}" "" "g.61713126_61713127insTGGACT" "" "Germline" "" "" "0" "" "" "g.60800568_60800573dup" "" "VUS" "" "0000722038" "0" "30" "8" "61654268" "61654268" "subst" "0.000182873" "01943" "CHD7_000363" "g.61654268A>G" "" "" "" "CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722039" "0" "50" "8" "61654895" "61654895" "subst" "1.21871E-5" "02327" "CHD7_000439" "g.61654895C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722040" "0" "10" "8" "61655161" "61655161" "subst" "4.06577E-5" "02330" "CHD7_000279" "g.61655161T>C" "" "" "" "CHD7(NM_017780.2):c.1170T>C (p.Y390=), CHD7(NM_017780.4):c.1170T>C (p.Y390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000722041" "0" "30" "8" "61655161" "61655161" "subst" "4.06577E-5" "01943" "CHD7_000279" "g.61655161T>C" "" "" "" "CHD7(NM_017780.2):c.1170T>C (p.Y390=), CHD7(NM_017780.4):c.1170T>C (p.Y390=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722042" "0" "50" "8" "61693589" "61693589" "subst" "8.96451E-6" "01943" "CHD7_000440" "g.61693589C>G" "" "" "" "CHD7(NM_017780.2):c.1696C>G (p.P566A), CHD7(NM_017780.3):c.1696C>G (p.(Pro566Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722043" "0" "50" "8" "61693706" "61693706" "subst" "1.27412E-5" "02325" "CHD7_000367" "g.61693706C>G" "" "" "" "CHD7(NM_017780.2):c.1813C>G (p.H605D), CHD7(NM_017780.3):c.1813C>G (p.(His605Asp)), CHD7(NM_017780.4):c.1813C>G (p.H605D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722044" "0" "30" "8" "61693946" "61693951" "dup" "0" "02330" "CHD7_000114" "g.61693946_61693951dup" "" "" "" "CHD7(NM_017780.2):c.2053_2058dupGCAAAA (p.A685_K686dup), CHD7(NM_017780.4):c.2053_2058dup (p.(Ala685_Lys686dup)), CHD7(NM_017780.4):c.2053_2058dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722045" "0" "50" "8" "61712953" "61712953" "subst" "0" "02329" "CHD7_000292" "g.61712953C>T" "" "" "" "CHD7(NM_017780.4):c.2245C>T (p.R749W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722046" "0" "90" "8" "61713045" "61713045" "del" "0" "02329" "CHD7_000120" "g.61713045del" "" "" "" "CHD7(NM_017780.4):c.2337delG (p.R780Gfs*23)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722047" "0" "30" "8" "61714146" "61714146" "subst" "0.000225421" "01943" "CHD7_000124" "g.61714146A>T" "" "" "" "CHD7(NM_017780.2):c.2436A>T (p.K812N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722048" "0" "50" "8" "61734439" "61734439" "subst" "7.47502E-5" "02330" "CHD7_000137" "g.61734439G>A" "" "" "" "CHD7(NM_017780.4):c.2788G>A (p.E930K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722049" "0" "90" "8" "61734662" "61734662" "subst" "0" "02327" "CHD7_000441" "g.61734662A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722050" "0" "30" "8" "61749394" "61749394" "subst" "4.87619E-5" "02326" "CHD7_000309" "g.61749394C>T" "" "" "" "CHD7(NM_017780.2):c.4008C>T (p.I1336=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722051" "0" "70" "8" "61754430" "61754430" "subst" "0" "02329" "CHD7_000246" "g.61754430A>G" "" "" "" "CHD7(NM_017780.4):c.4669A>G (p.R1557G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000722052" "0" "50" "8" "61764776" "61764776" "subst" "0" "02329" "CHD7_000380" "g.61764776G>A" "" "" "" "CHD7(NM_017780.4):c.5864G>A (p.R1955K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722053" "0" "30" "8" "61765255" "61765255" "subst" "0" "01943" "CHD7_000442" "g.61765255G>A" "" "" "" "CHD7(NM_017780.2):c.6093G>A (p.K2031=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722054" "0" "30" "8" "61765383" "61765383" "subst" "2.44236E-5" "01943" "CHD7_000443" "g.61765383T>C" "" "" "" "CHD7(NM_017780.2):c.6104-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722055" "0" "30" "8" "61765407" "61765407" "subst" "0" "01943" "CHD7_000381" "g.61765407C>T" "" "" "" "CHD7(NM_017780.2):c.6123C>T (p.S2041=), CHD7(NM_017780.4):c.6123C>T (p.S2041=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722056" "0" "30" "8" "61768596" "61768596" "subst" "8.26016E-6" "02327" "CHD7_000444" "g.61768596A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722057" "0" "90" "8" "61768609" "61768609" "subst" "0" "02329" "CHD7_000445" "g.61768609C>T" "" "" "" "CHD7(NM_017780.4):c.7012C>T (p.Q2338*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722058" "0" "50" "8" "61768705" "61768705" "subst" "0" "01943" "CHD7_000446" "g.61768705G>C" "" "" "" "CHD7(NM_017780.2):c.7108G>C (p.G2370R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722059" "0" "50" "8" "61769122" "61769122" "subst" "1.62495E-5" "01943" "CHD7_000447" "g.61769122G>A" "" "" "" "CHD7(NM_017780.2):c.7283G>A (p.R2428Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722060" "0" "90" "8" "61774815" "61774815" "subst" "0" "02329" "CHD7_000389" "g.61774815C>T" "" "" "" "CHD7(NM_017780.4):c.7891C>T (p.R2631*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722061" "0" "90" "8" "61775150" "61775150" "subst" "0" "01943" "CHD7_000448" "g.61775150G>A" "" "" "" "CHD7(NM_017780.2):c.8015G>A (p.W2672*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000722062" "0" "50" "8" "61777857" "61777857" "subst" "8.36568E-6" "01943" "CHD7_000449" "g.61777857G>A" "" "" "" "CHD7(NM_017780.2):c.8359G>A (p.G2787S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722063" "0" "30" "8" "61777864" "61777864" "subst" "7.07643E-5" "01943" "CHD7_000357" "g.61777864C>T" "" "" "" "CHD7(NM_017780.2):c.8366C>T (p.A2789V), CHD7(NM_017780.4):c.8366C>T (p.A2789V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000722064" "0" "50" "8" "61777975" "61777975" "subst" "0.00101223" "01943" "CHD7_000359" "g.61777975A>G" "" "" "" "CHD7(NM_017780.2):c.8477A>G (p.N2826S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722065" "0" "50" "8" "61778367" "61778367" "subst" "8.13273E-6" "01943" "CHD7_000450" "g.61778367G>A" "" "" "" "CHD7(NM_017780.2):c.8869G>A (p.D2957N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000722066" "0" "50" "8" "61778433" "61778433" "subst" "0" "02327" "CHD7_000451" "g.61778433G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000733971" "0" "70" "8" "61734482" "61734482" "subst" "0.000604082" "04011" "CHD7_000138" "g.61734482G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000733989" "0" "70" "8" "61734482" "61734482" "subst" "0.000604082" "04011" "CHD7_000138" "g.61734482G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734017" "0" "70" "8" "61654053" "61654053" "subst" "0" "04011" "CHD7_000452" "g.61654053T>C" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734034" "0" "70" "8" "61713055" "61713055" "subst" "8.13061E-5" "04011" "CHD7_000264" "g.61713055C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734072" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734173" "0" "70" "8" "61654539" "61654539" "subst" "8.15641E-6" "04011" "CHD7_000453" "g.61654539C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734238" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734310" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734319" "0" "70" "8" "61777591" "61777591" "subst" "0" "04011" "CHD7_000454" "g.61777591C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734325" "0" "70" "8" "61734409" "61734409" "subst" "6.3955E-5" "04011" "CHD7_000136" "g.61734409C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734435" "0" "70" "8" "61734409" "61734409" "subst" "6.3955E-5" "04011" "CHD7_000136" "g.61734409C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734461" "0" "70" "8" "61769009" "61769009" "subst" "2.52198E-5" "04011" "CHD7_000459" "g.61769009T>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734470" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734982" "0" "70" "8" "61741289" "61741289" "subst" "0" "04011" "CHD7_000458" "g.61741289A>G" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000734997" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735016" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735061" "0" "70" "8" "61713006" "61713006" "subst" "0" "04011" "CHD7_000455" "g.61713006G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735072" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735236" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735273" "0" "70" "8" "61714109" "61714109" "subst" "0" "04011" "CHD7_000456" "g.61714109C>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735469" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735475" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735487" "0" "70" "8" "61736415" "61736415" "subst" "0" "04011" "CHD7_000457" "g.61736415G>A" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000735545" "0" "70" "8" "61655556" "61655556" "subst" "0.00257243" "04011" "CHD7_000027" "g.61655556G>T" "" "{PMID:Luo 2021:33867526}, {DOI:Luo 2021:10.1038/s41431-021-00886-x}" "" "" "" "Germline" "" "" "" "" "" "" "" "VUS" "" "0000783985" "1" "50" "8" "61654851" "61654851" "subst" "8.13213E-6" "00006" "CHD7_000460" "g.61654851C>T" "" "{PMID:Chen 2015:26011067}" "" "" "" "Germline" "" "" "0" "" "" "" "" "VUS" "" "0000786791" "0" "90" "8" "61655602" "61655602" "subst" "0" "00006" "CHD7_000461" "g.61655602G>A" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.60743043G>A" "" "pathogenic" "" "0000786792" "0" "70" "8" "61754517" "61754518" "del" "0" "00006" "CHD7_000463" "g.61754517_61754518del" "" "{PMID:Ganapathy 2019:31069529}" "" "c.4756_4757delAA" "" "Germline" "" "" "0" "" "" "g.60841958_60841959del" "" "likely pathogenic" "" "0000787234" "0" "50" "8" "61736492" "61736492" "subst" "0" "00006" "CHD7_000462" "g.61736492T>C" "" "{PMID:Ganapathy 2019:31069529}" "" "" "" "Germline" "" "" "0" "" "" "g.60823933T>C" "" "VUS" "" "0000791102" "0" "50" "8" "61750759" "61750759" "subst" "0" "01807" "CHD7_000464" "g.61750759G>A" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "VUS" "" "0000803691" "0" "30" "8" "61654268" "61654268" "subst" "0.000182873" "02330" "CHD7_000363" "g.61654268A>G" "" "" "" "CHD7(NM_017780.2):c.277A>G (p.T93A), CHD7(NM_017780.4):c.277A>G (p.T93A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803692" "0" "50" "8" "61654293" "61654293" "subst" "4.06501E-6" "02325" "CHD7_000465" "g.61654293C>T" "" "" "" "CHD7(NM_017780.4):c.302C>T (p.P101L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803693" "0" "90" "8" "61654460" "61654460" "subst" "0" "02327" "CHD7_000466" "g.61654460C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803694" "0" "30" "8" "61654501" "61654501" "subst" "2.46409E-5" "01943" "CHD7_000467" "g.61654501G>A" "" "" "" "CHD7(NM_017780.2):c.510G>A (p.P170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803695" "0" "50" "8" "61654751" "61654751" "subst" "0" "01943" "CHD7_000468" "g.61654751C>G" "" "" "" "CHD7(NM_017780.2):c.760C>G (p.Q254E), CHD7(NM_017780.4):c.760C>G (p.(Gln254Glu), p.Q254E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803696" "0" "50" "8" "61655366" "61655366" "subst" "0.000195128" "02330" "CHD7_000023" "g.61655366C>T" "" "" "" "CHD7(NM_017780.3):c.1375C>T (p.(Arg459Cys)), CHD7(NM_017780.4):c.1375C>T (p.R459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803697" "0" "30" "8" "61655414" "61655414" "subst" "4.11828E-6" "01943" "CHD7_000469" "g.61655414A>T" "" "" "" "CHD7(NM_017780.2):c.1423A>T (p.M475L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803698" "0" "50" "8" "61693617" "61693617" "subst" "2.89225E-5" "02330" "CHD7_000470" "g.61693617G>C" "" "" "" "CHD7(NM_017780.4):c.1724G>C (p.G575A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803699" "0" "30" "8" "61707630" "61707630" "subst" "6.50111E-5" "02326" "CHD7_000471" "g.61707630G>C" "" "" "" "CHD7(NM_017780.2):c.2182G>C (p.D728H), CHD7(NM_017780.4):c.2182G>C (p.(Asp728His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803700" "0" "30" "8" "61735155" "61735155" "subst" "0" "01943" "CHD7_000372" "g.61735155C>A" "" "" "" "CHD7(NM_017780.2):c.3051C>A (p.G1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803701" "0" "70" "8" "61749573" "61749573" "dup" "0" "02325" "CHD7_000472" "g.61749573dup" "" "" "" "CHD7(NM_017780.4):c.4185+2dupT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803703" "0" "50" "8" "61757449" "61757449" "subst" "2.46879E-5" "02325" "CHD7_000474" "g.61757449C>T" "" "" "" "CHD7(NM_017780.4):c.4877C>T (p.S1626F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803704" "0" "30" "8" "61757453" "61757453" "subst" "7.39396E-5" "01943" "CHD7_000475" "g.61757453C>T" "" "" "" "CHD7(NM_017780.2):c.4881C>T (p.H1627=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803705" "0" "50" "8" "61763076" "61763076" "subst" "6.10993E-5" "01943" "CHD7_000476" "g.61763076G>A" "" "" "" "CHD7(NM_017780.2):c.5429G>A (p.R1810Q), CHD7(NM_017780.4):c.5429G>A (p.R1810Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803706" "0" "30" "8" "61764601" "61764601" "subst" "0.000212568" "02325" "CHD7_000477" "g.61764601G>A" "" "" "" "CHD7(NM_017780.4):c.5689G>A (p.E1897K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803707" "0" "30" "8" "61764669" "61764669" "subst" "0.000325508" "01943" "CHD7_000478" "g.61764669C>G" "" "" "" "CHD7(NM_017780.2):c.5757C>G (p.A1919=), CHD7(NM_017780.4):c.5757C>G (p.A1919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803708" "0" "70" "8" "61765270" "61765270" "subst" "0" "02327" "CHD7_000479" "g.61765270G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000803709" "0" "90" "8" "61765432" "61765432" "subst" "0" "02327" "CHD7_000480" "g.61765432C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000803710" "0" "30" "8" "61765730" "61765730" "subst" "1.22089E-5" "01943" "CHD7_000223" "g.61765730G>T" "" "" "" "CHD7(NM_017780.2):c.6446G>T (p.G2149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803711" "0" "10" "8" "61766022" "61766022" "subst" "0.00483884" "02330" "CHD7_000224" "g.61766022G>A" "" "" "" "CHD7(NM_017780.4):c.6738G>A (p.E2246=, p.(Glu2246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000803712" "0" "30" "8" "61766059" "61766059" "subst" "0.000180956" "01943" "CHD7_000481" "g.61766059G>A" "" "" "" "CHD7(NM_017780.2):c.6775G>A (p.A2259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803713" "0" "30" "8" "61768679" "61768679" "subst" "3.34401E-5" "02325" "CHD7_000482" "g.61768679G>A" "" "" "" "CHD7(NM_017780.4):c.7082G>A (p.R2361K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000803714" "0" "50" "8" "61769376" "61769376" "subst" "1.69745E-5" "01943" "CHD7_000483" "g.61769376C>T" "" "" "" "CHD7(NM_017780.2):c.7537C>T (p.R2513W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803715" "0" "50" "8" "61769430" "61769430" "subst" "2.03909E-5" "01943" "CHD7_000484" "g.61769430C>T" "" "" "" "CHD7(NM_017780.2):c.7591C>T (p.R2531W), CHD7(NM_017780.3):c.7591C>T (p.(Arg2531Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803716" "0" "50" "8" "61773547" "61773547" "subst" "0" "02325" "CHD7_000485" "g.61773547C>G" "" "" "" "CHD7(NM_017780.4):c.7693C>G (p.P2565A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000803717" "0" "90" "8" "61774881" "61774881" "subst" "0" "02327" "CHD7_000486" "g.61774881C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000823612" "0" "70" "8" "61654835" "61654835" "subst" "0" "02494" "CHD7_000014" "g.61654835C>T" "" "" "" "" "" "De novo" "" "" "" "" "" "" "" "likely pathogenic (dominant)" "" "0000838396" "0" "70" "8" "61769031" "61769031" "subst" "0" "03779" "CHD7_000487" "g.61769031C>G" "" "" "" "" "" "CLASSIFICATION record" "" "" "0" "" "" "" "" "likely pathogenic" "" "0000851964" "0" "30" "8" "61654204" "61654204" "subst" "0" "01943" "CHD7_000488" "g.61654204C>T" "" "" "" "CHD7(NM_017780.2):c.213C>T (p.H71=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851965" "0" "30" "8" "61654396" "61654396" "subst" "0" "02326" "CHD7_000489" "g.61654396G>A" "" "" "" "CHD7(NM_017780.2):c.405G>A (p.G135=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851966" "0" "10" "8" "61654847" "61654847" "subst" "0.000699329" "02330" "CHD7_000275" "g.61654847A>G" "" "" "" "CHD7(NM_017780.2):c.856A>G (p.R286G), CHD7(NM_017780.4):c.856A>G (p.R286G, p.(Arg286Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000851967" "0" "30" "8" "61655037" "61655037" "subst" "9.74619E-5" "01943" "CHD7_000107" "g.61655037A>G" "" "" "" "CHD7(NM_017780.2):c.1046A>G (p.N349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851968" "0" "30" "8" "61734438" "61734438" "subst" "5.83173E-5" "01943" "CHD7_000490" "g.61734438C>T" "" "" "" "CHD7(NM_017780.2):c.2787C>T (p.I929=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851969" "0" "30" "8" "61742971" "61742971" "subst" "5.28039E-5" "02325" "CHD7_000007" "g.61742971A>G" "" "" "" "CHD7(NM_017780.4):c.3613A>G (p.I1205V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851970" "0" "30" "8" "61743055" "61743055" "subst" "0.000605165" "01943" "CHD7_000159" "g.61743055G>A" "" "" "" "CHD7(NM_017780.2):c.3697G>A (p.G1233S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851971" "0" "30" "8" "61750316" "61750316" "subst" "7.36214E-5" "01943" "CHD7_000492" "g.61750316C>T" "" "" "" "CHD7(NM_017780.2):c.4275C>T (p.F1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851972" "0" "30" "8" "61757621" "61757621" "subst" "2.44322E-5" "01943" "CHD7_000493" "g.61757621C>T" "" "" "" "CHD7(NM_017780.2):c.5049C>T (p.S1683=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851973" "0" "30" "8" "61765271" "61765271" "subst" "0.000288522" "02326" "CHD7_000497" "g.61765271T>C" "" "" "" "CHD7(NM_017780.2):c.6103+6T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851974" "0" "30" "8" "61765685" "61765685" "subst" "4.06607E-6" "01943" "CHD7_000498" "g.61765685A>G" "" "" "" "CHD7(NM_017780.2):c.6401A>G (p.N2134S), CHD7(NM_017780.3):c.6401A>G (p.(Asn2134Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851975" "0" "30" "8" "61765730" "61765730" "subst" "1.22089E-5" "02326" "CHD7_000223" "g.61765730G>T" "" "" "" "CHD7(NM_017780.2):c.6446G>T (p.G2149V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851976" "0" "30" "8" "61766968" "61766968" "subst" "0.000516201" "02326" "CHD7_000404" "g.61766968T>C" "" "" "" "CHD7(NM_017780.2):c.6822T>C (p.A2274=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851977" "0" "50" "8" "61768642" "61768642" "subst" "0" "02325" "CHD7_000502" "g.61768642T>C" "" "" "" "CHD7(NM_017780.4):c.7045T>C (p.Y2349H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851978" "0" "50" "8" "61768682" "61768682" "subst" "5.0508E-5" "01943" "CHD7_000343" "g.61768682G>A" "" "" "" "CHD7(NM_017780.2):c.7085G>A (p.S2362N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000851979" "0" "30" "8" "61777976" "61777976" "subst" "0.000158553" "01943" "CHD7_000506" "g.61777976C>T" "" "" "" "CHD7(NM_017780.2):c.8478C>T (p.N2826=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851980" "0" "30" "8" "61778006" "61778006" "subst" "1.21926E-5" "01943" "CHD7_000507" "g.61778006G>A" "" "" "" "CHD7(NM_017780.2):c.8508G>A (p.P2836=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000851981" "0" "30" "8" "61778190" "61778190" "subst" "0" "01943" "CHD7_000508" "g.61778190A>T" "" "" "" "CHD7(NM_017780.2):c.8692A>T (p.M2898L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861254" "0" "90" "8" "61655471" "61655471" "subst" "0" "01804" "CHD7_000110" "g.61655471C>T" "" "" "" "CHD7(NM_017780.3):c.1480C>T (p.(Arg494*))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861255" "0" "50" "8" "61741304" "61741304" "subst" "1.22281E-5" "01943" "CHD7_000491" "g.61741304G>T" "" "" "" "CHD7(NM_017780.2):c.3461G>T (p.S1154I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861256" "0" "30" "8" "61761722" "61761722" "subst" "1.22666E-5" "01943" "CHD7_000494" "g.61761722C>T" "" "" "" "CHD7(NM_017780.2):c.5404+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861257" "0" "30" "8" "61763618" "61763618" "subst" "0" "02326" "CHD7_000495" "g.61763618C>T" "" "" "" "CHD7(NM_017780.2):c.5562C>T (p.D1854=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861258" "0" "30" "8" "61765241" "61765241" "subst" "0" "01943" "CHD7_000496" "g.61765241C>G" "" "" "" "CHD7(NM_017780.2):c.6079C>G (p.R2027G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861259" "0" "30" "8" "61765872" "61765872" "subst" "2.94249E-5" "01943" "CHD7_000499" "g.61765872C>T" "" "" "" "CHD7(NM_017780.2):c.6588C>T (p.T2196=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861260" "0" "30" "8" "61765956" "61765956" "subst" "2.77242E-5" "01943" "CHD7_000500" "g.61765956C>T" "" "" "" "CHD7(NM_017780.2):c.6672C>T (p.G2224=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861261" "0" "50" "8" "61767054" "61767054" "subst" "0" "01943" "CHD7_000501" "g.61767054G>C" "" "" "" "CHD7(NM_017780.2):c.6908G>C (p.R2303T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000861262" "0" "30" "8" "61768562" "61768562" "subst" "0.000158312" "01943" "CHD7_000078" "g.61768562A>G" "" "" "" "CHD7(NM_017780.2):c.6965A>G (p.N2322S), CHD7(NM_017780.3):c.6965A>G (p.(Asn2322Ser)), CHD7(NM_017780.4):c.6965A>G (p.N2322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861263" "0" "30" "8" "61768562" "61768562" "subst" "0.000158312" "02326" "CHD7_000078" "g.61768562A>G" "" "" "" "CHD7(NM_017780.2):c.6965A>G (p.N2322S), CHD7(NM_017780.3):c.6965A>G (p.(Asn2322Ser)), CHD7(NM_017780.4):c.6965A>G (p.N2322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861264" "0" "30" "8" "61769012" "61769012" "subst" "0" "01943" "CHD7_000386" "g.61769012C>T" "" "" "" "CHD7(NM_017780.2):c.7173C>T (p.A2391=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861265" "0" "30" "8" "61769117" "61769117" "subst" "0.000264069" "02326" "CHD7_000230" "g.61769117G>A" "" "" "" "CHD7(NM_017780.2):c.7278G>A (p.Q2426=), CHD7(NM_017780.4):c.7278G>A (p.(Gln2426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000861266" "0" "70" "8" "61773483" "61773483" "subst" "0" "02327" "CHD7_000503" "g.61773483A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000861267" "0" "90" "8" "61773668" "61773668" "del" "0" "02327" "CHD7_000504" "g.61773668del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000861268" "0" "30" "8" "61777850" "61777850" "subst" "3.38857E-5" "01943" "CHD7_000505" "g.61777850C>T" "" "" "" "CHD7(NM_017780.2):c.8352C>T (p.T2784=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000874577" "0" "70" "8" "61765468" "61765468" "subst" "0" "00000" "CHD7_000509" "g.61765468C>T" "" "{PMID:Matias-Perez 2018:30181649}" "" "CHD7 c.6184C>T, p.Arg2062Trp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.60852909C>T" "" "likely pathogenic" "" "0000874578" "0" "70" "8" "61765468" "61765468" "subst" "0" "00000" "CHD7_000509" "g.61765468C>T" "" "{PMID:Matias-Perez 2018:30181649}" "" "CHD7 c.6184C>T, p.Arg2062Trp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.60852909C>T" "" "likely pathogenic" "" "0000874579" "0" "70" "8" "61765468" "61765468" "subst" "0" "00000" "CHD7_000509" "g.61765468C>T" "" "{PMID:Matias-Perez 2018:30181649}" "" "CHD7 c.6184C>T, p.Arg2062Trp" "heterozygous" "Germline" "yes" "" "0" "" "" "g.60852909C>T" "" "likely pathogenic" "" "0000874583" "0" "70" "8" "61655471" "61655471" "subst" "0" "00000" "CHD7_000110" "g.61655471C>T" "" "{PMID:Matias-Perez 2018:30181649}" "" "CHD7 c.1480C>T, p.Arg494*" "heterozygous" "Unknown" "?" "" "0" "" "" "g.60742912C>T" "" "likely pathogenic" "" "0000877377" "0" "70" "8" "61765520" "61765520" "del" "0" "01164" "CHD7_000510" "g.61765520del" "" "" "" "" "ACMG: PVS1, PM2_SUP, PS2_SUP; confirmed de novo in prenatal trio exome sequencing" "De novo" "-" "" "0" "" "" "g.60852961del" "" "likely pathogenic (dominant)" "ACMG" "0000881186" "0" "90" "8" "61763045" "61763045" "subst" "0" "02300" "CHD7_000197" "g.61763045G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PS3, PM2, PM6, PP3, PP4, PP5" "Germline/De novo (untested)" "" "rs398124321" "0" "" "" "g.60850486G>A" "" "pathogenic (dominant)" "ACMG" "0000888397" "0" "30" "8" "61654132" "61654132" "subst" "0" "02326" "CHD7_000009" "g.61654132T>C" "" "" "" "CHD7(NM_017780.2):c.141T>C (p.F47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888398" "0" "30" "8" "61654280" "61654280" "subst" "1.2192E-5" "02327" "CHD7_000511" "g.61654280G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888399" "0" "50" "8" "61654935" "61654935" "subst" "0" "02327" "CHD7_000512" "g.61654935A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888400" "0" "30" "8" "61655037" "61655037" "subst" "9.74619E-5" "02326" "CHD7_000107" "g.61655037A>G" "" "" "" "CHD7(NM_017780.2):c.1046A>G (p.N349S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888401" "0" "30" "8" "61655170" "61655170" "subst" "0.000362334" "02327" "CHD7_000019" "g.61655170A>G" "" "" "" "CHD7(NM_017780.2):c.1179A>G (p.P393=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888402" "0" "30" "8" "61655388" "61655388" "subst" "0.00101723" "02330" "CHD7_000025" "g.61655388C>T" "" "" "" "CHD7(NM_017780.2):c.1397C>T (p.S466L), CHD7(NM_017780.3):c.1397C>T (p.(Ser466Leu)), CHD7(NM_017780.4):c.1397C>T (p.S466L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888403" "0" "30" "8" "61693706" "61693706" "subst" "1.27412E-5" "02326" "CHD7_000367" "g.61693706C>G" "" "" "" "CHD7(NM_017780.2):c.1813C>G (p.H605D), CHD7(NM_017780.3):c.1813C>G (p.(His605Asp)), CHD7(NM_017780.4):c.1813C>G (p.H605D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888404" "0" "70" "8" "61707581" "61707581" "subst" "0" "02329" "CHD7_000513" "g.61707581G>T" "" "" "" "CHD7(NM_017780.4):c.2133G>T (p.K711N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000888405" "0" "90" "8" "61729019" "61729020" "ins" "0" "02325" "CHD7_000514" "g.61729019_61729020insT" "" "" "" "CHD7(NM_017780.4):c.2572_2573insT (p.R858Lfs*3)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888406" "0" "50" "8" "61729051" "61729051" "subst" "0" "02327" "CHD7_000515" "g.61729051C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888407" "0" "50" "8" "61734481" "61734481" "subst" "2.85871E-5" "02327" "CHD7_000516" "g.61734481C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888408" "0" "30" "8" "61750626" "61750626" "subst" "0" "02330" "CHD7_000517" "g.61750626C>G" "" "" "" "CHD7(NM_017780.4):c.4354-9C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888409" "0" "50" "8" "61750635" "61750635" "subst" "8.06543E-6" "02330" "CHD7_000311" "g.61750635G>A" "" "" "" "CHD7(NM_017780.4):c.4354G>A (p.V1452I, p.(Val1452Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888410" "0" "30" "8" "61750834" "61750834" "subst" "0" "02326" "CHD7_000518" "g.61750834G>A" "" "" "" "CHD7(NM_017780.2):c.4533+20G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888411" "0" "30" "8" "61757914" "61757914" "subst" "0" "02326" "CHD7_000519" "g.61757914A>G" "" "" "" "CHD7(NM_017780.2):c.5156A>G (p.D1719G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888412" "0" "30" "8" "61763034" "61763034" "subst" "3.69677E-5" "02326" "CHD7_000520" "g.61763034C>T" "" "" "" "CHD7(NM_017780.2):c.5405-18C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888413" "0" "50" "8" "61763076" "61763076" "subst" "6.10993E-5" "02325" "CHD7_000476" "g.61763076G>A" "" "" "" "CHD7(NM_017780.2):c.5429G>A (p.R1810Q), CHD7(NM_017780.4):c.5429G>A (p.R1810Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888414" "0" "30" "8" "61764666" "61764666" "subst" "0.000394694" "01943" "CHD7_000208" "g.61764666T>C" "" "" "" "CHD7(NM_017780.2):c.5754T>C (p.T1918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888415" "0" "10" "8" "61764666" "61764666" "subst" "0.000394694" "02326" "CHD7_000208" "g.61764666T>C" "" "" "" "CHD7(NM_017780.2):c.5754T>C (p.T1918=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888416" "0" "10" "8" "61764669" "61764669" "subst" "0.000325508" "02330" "CHD7_000478" "g.61764669C>G" "" "" "" "CHD7(NM_017780.2):c.5757C>G (p.A1919=), CHD7(NM_017780.4):c.5757C>G (p.A1919=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888417" "0" "30" "8" "61764760" "61764760" "subst" "0.000232475" "02326" "CHD7_000379" "g.61764760G>A" "" "" "" "CHD7(NM_017780.2):c.5848G>A (p.A1950T), CHD7(NM_017780.4):c.5848G>A (p.A1950T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888418" "0" "50" "8" "61765489" "61765489" "subst" "1.62487E-5" "02325" "CHD7_000521" "g.61765489C>G" "" "" "" "CHD7(NM_017780.4):c.6205C>G (p.L2069V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000888419" "0" "30" "8" "61765500" "61765500" "subst" "0.000349386" "02326" "CHD7_000402" "g.61765500C>G" "" "" "" "CHD7(NM_017780.2):c.6216C>G (p.P2072=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888420" "0" "30" "8" "61766059" "61766059" "subst" "0.000180956" "02326" "CHD7_000481" "g.61766059G>A" "" "" "" "CHD7(NM_017780.2):c.6775G>A (p.A2259T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888421" "0" "30" "8" "61767070" "61767070" "subst" "0.000412062" "01943" "CHD7_000226" "g.61767070G>A" "" "" "" "CHD7(NM_017780.2):c.6924G>A (p.S2308=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888422" "0" "30" "8" "61768586" "61768586" "subst" "0.0001737" "02327" "CHD7_000522" "g.61768586G>C" "" "" "" "CHD7(NM_017780.4):c.6989G>C (p.(Gly2330Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888423" "0" "90" "8" "61769061" "61769061" "subst" "0" "02325" "CHD7_000523" "g.61769061G>T" "" "" "" "CHD7(NM_017780.4):c.7222G>T (p.E2408*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000888424" "0" "10" "8" "61773603" "61773603" "subst" "0" "02330" "CHD7_000524" "g.61773603A>G" "" "" "" "CHD7(NM_017780.4):c.7749A>G (p.E2583=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000888425" "0" "30" "8" "61778159" "61778159" "subst" "0.000195054" "02326" "CHD7_000094" "g.61778159G>A" "" "" "" "CHD7(NM_017780.2):c.8661G>A (p.P2887=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888426" "0" "30" "8" "61778170" "61778170" "subst" "0.000227613" "02326" "CHD7_000525" "g.61778170A>G" "" "" "" "CHD7(NM_017780.2):c.8672A>G (p.N2891S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000888427" "0" "50" "8" "61778455" "61778455" "subst" "0" "02325" "CHD7_000245" "g.61778455G>A" "" "" "" "CHD7(NM_017780.4):c.8957G>A (p.G2986E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000903255" "0" "90" "8" "61743013" "61743013" "subst" "0" "00006" "CHD7_000158" "g.61743013C>T" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000903256" "0" "90" "8" "61769115" "61769115" "subst" "0" "00006" "CHD7_000229" "g.61769115C>T" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000903257" "0" "90" "8" "61765576" "61765576" "subst" "0" "00006" "CHD7_000259" "g.61765576C>T" "" "{PMID:Biard 2021:33662639}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "pathogenic (dominant)" "" "0000908896" "0" "90" "8" "61763030" "61763030" "subst" "0" "00006" "CHD7_000526" "g.61763030T>A" "" "{PMID:Bournazos 2022:34906502}" "" "" "cryptic splice acceptor (incl. \'TG\'), intron retention" "Germline" "" "" "0" "" "" "g.60850471T>A" "" "pathogenic (dominant)" "" "0000912968" "0" "30" "8" "61655617" "61655617" "subst" "3.67095E-5" "02326" "CHD7_000527" "g.61655617A>G" "" "" "" "CHD7(NM_017780.2):c.1626A>G (p.P542=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912969" "0" "30" "8" "61735155" "61735155" "subst" "0" "02326" "CHD7_000372" "g.61735155C>A" "" "" "" "CHD7(NM_017780.2):c.3051C>A (p.G1017=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912970" "0" "90" "8" "61736580" "61736580" "subst" "0" "02327" "CHD7_000528" "g.61736580G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000912971" "0" "30" "8" "61748851" "61748851" "subst" "3.69513E-5" "02326" "CHD7_000529" "g.61748851C>T" "" "" "" "CHD7(NM_017780.2):c.3989+9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912972" "0" "30" "8" "61750718" "61750718" "subst" "0.000383229" "02326" "CHD7_000065" "g.61750718G>A" "" "" "" "CHD7(NM_017780.2):c.4437G>A (p.G1479=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912973" "0" "30" "8" "61754481" "61754481" "subst" "2.06733E-5" "02326" "CHD7_000248" "g.61754481A>T" "" "" "" "CHD7(NM_017780.2):c.4720A>T (p.M1574L), CHD7(NM_017780.3):c.4720A>T (p.(Met1574Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912974" "0" "30" "8" "61757795" "61757795" "subst" "7.08404E-5" "02326" "CHD7_000530" "g.61757795G>T" "" "" "" "CHD7(NM_017780.2):c.5051-14G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912975" "0" "30" "8" "61761133" "61761133" "subst" "7.74158E-5" "02325" "CHD7_000531" "g.61761133C>T" "" "" "" "CHD7(NM_017780.4):c.5270C>T (p.A1757V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912976" "0" "30" "8" "61765966" "61765966" "subst" "5.62974E-5" "02326" "CHD7_000532" "g.61765966G>A" "" "" "" "CHD7(NM_017780.2):c.6682G>A (p.G2228R), CHD7(NM_017780.4):c.6682G>A (p.(Gly2228Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000912977" "0" "50" "8" "61773532" "61773532" "subst" "1.62444E-5" "02326" "CHD7_000349" "g.61773532C>T" "" "" "" "CHD7(NM_017780.2):c.7678C>T (p.P2560S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000912978" "0" "30" "8" "61777986" "61777986" "subst" "0.00033336" "02326" "CHD7_000260" "g.61777986G>A" "" "" "" "CHD7(NM_017780.2):c.8488G>A (p.A2830T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000916863" "0" "50" "8" "61769230" "61769230" "subst" "0" "04451" "CHD7_000533" "g.61769230A>G" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60856671A>G" "" "VUS" "ACMG" "0000924893" "0" "30" "8" "61654435" "61654435" "subst" "0.000452695" "01804" "CHD7_000534" "g.61654435G>A" "" "" "" "CHD7(NM_001316690.1):c.444G>A (p.(Arg148=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924894" "0" "50" "8" "61655366" "61655366" "subst" "0.000195128" "02325" "CHD7_000023" "g.61655366C>T" "" "" "" "CHD7(NM_017780.3):c.1375C>T (p.(Arg459Cys)), CHD7(NM_017780.4):c.1375C>T (p.R459C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924895" "0" "30" "8" "61732627" "61732627" "subst" "0.000136773" "02326" "CHD7_000535" "g.61732627G>A" "" "" "" "CHD7(NM_017780.2):c.2675G>A (p.R892H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000924896" "0" "50" "8" "61768694" "61768694" "subst" "4.23395E-6" "02327" "CHD7_000536" "g.61768694T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924897" "0" "50" "8" "61769051" "61769053" "del" "0" "02325" "CHD7_000537" "g.61769051_61769053del" "" "" "" "CHD7(NM_017780.4):c.7212_7214delGAG (p.R2405del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000924898" "0" "30" "8" "61778288" "61778288" "subst" "0.000559732" "02330" "CHD7_000360" "g.61778288C>T" "" "" "" "CHD7(NM_017780.2):c.8790C>T (p.A2930=), CHD7(NM_017780.4):c.8790C>T (p.A2930=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000927838" "0" "70" "8" "61749419" "61749419" "subst" "0" "01164" "CHD7_000538" "g.61749419C>T" "" "PMID: 21158681, 25077900, 28191889, 3113028" "" "" "ACMG: PP3_STR, PS4_MOD, PS2_SUP, PM2_SUP, PP2; REVEL score >0,93, confirmed de novo in trio exome" "De novo" "-" "" "0" "" "" "g.60836860C>T" "" "likely pathogenic (dominant)" "ACMG" "0000929465" "0" "30" "8" "61654218" "61654218" "subst" "0" "02327" "CHD7_000539" "g.61654218A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929466" "0" "50" "8" "61654973" "61654973" "subst" "4.06108E-6" "02325" "CHD7_000540" "g.61654973A>T" "" "" "" "CHD7(NM_017780.4):c.982A>T (p.M328L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000929467" "0" "10" "8" "61655556" "61655556" "subst" "0.00257243" "02330" "CHD7_000027" "g.61655556G>T" "" "" "" "CHD7(NM_017780.2):c.1565G>T (p.G522V), CHD7(NM_017780.4):c.1565G>T (p.G522V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000929468" "0" "30" "8" "61741376" "61741376" "subst" "4.11716E-6" "02330" "CHD7_000541" "g.61741376G>C" "" "" "" "CHD7(NM_017780.4):c.3522+11G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929469" "0" "90" "8" "61757960" "61757960" "del" "0" "02325" "CHD7_000542" "g.61757960del" "" "" "" "CHD7(NM_017780.4):c.5202delC (p.C1735Vfs*14)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929470" "0" "30" "8" "61765995" "61765995" "subst" "0.000115146" "02326" "CHD7_000340" "g.61765995C>T" "" "" "" "CHD7(NM_017780.2):c.6711C>T (p.S2237=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929471" "0" "30" "8" "61768562" "61768562" "subst" "0.000158312" "02327" "CHD7_000078" "g.61768562A>G" "" "" "" "CHD7(NM_017780.2):c.6965A>G (p.N2322S), CHD7(NM_017780.3):c.6965A>G (p.(Asn2322Ser)), CHD7(NM_017780.4):c.6965A>G (p.N2322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000929472" "0" "30" "8" "61778333" "61778333" "subst" "0" "02326" "CHD7_000543" "g.61778333A>G" "" "" "" "CHD7(NM_017780.2):c.8835A>G (p.G2945=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000931512" "0" "70" "8" "61769351" "61769354" "dup" "0" "01164" "CHD7_000544" "g.61769351_61769354dup" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP; confirmed de novo in trio-exome" "De novo" "-" "" "0" "" "" "g.60856792_60856795dup" "" "pathogenic (dominant)" "ACMG" "0000933816" "0" "90" "8" "61768553" "61768553" "subst" "0" "03779" "CHD7_000545" "g.61768553G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "" "" "pathogenic" "" "0000935913" "0" "90" "8" "61769091" "61769091" "subst" "0" "00006" "CHD7_000228" "g.61769091C>T" "" "{PMID:Chuan 2022:35571021}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.60856532C>T" "" "pathogenic (dominant)" "" "0000939822" "0" "90" "8" "61729019" "61729019" "subst" "0" "00006" "CHD7_000546" "g.61729019C>T" "" "{PMID:Nambot 2018:29095811}" "" "" "" "De novo" "" "" "0" "" "" "g.60816460C>T" "" "pathogenic (dominant)" "" "0000949099" "0" "50" "8" "61654751" "61654751" "subst" "0" "02325" "CHD7_000468" "g.61654751C>G" "" "" "" "CHD7(NM_017780.2):c.760C>G (p.Q254E), CHD7(NM_017780.4):c.760C>G (p.(Gln254Glu), p.Q254E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949100" "0" "30" "8" "61655009" "61655009" "subst" "0.00462147" "02327" "CHD7_000018" "g.61655009A>G" "" "" "" "CHD7(NM_001316690.1):c.1018A>G (p.(Met340Val)), CHD7(NM_017780.2):c.1018A>G (p.M340V), CHD7(NM_017780.4):c.1018A>G (p.M340V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949101" "0" "50" "8" "61732591" "61732591" "subst" "0" "02325" "CHD7_000547" "g.61732591A>G" "" "" "" "CHD7(NM_017780.4):c.2639A>G (p.D880G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949102" "0" "50" "8" "61735211" "61735211" "subst" "0" "02327" "CHD7_000548" "g.61735211G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949103" "0" "30" "8" "61750316" "61750316" "subst" "7.36214E-5" "02326" "CHD7_000492" "g.61750316C>T" "" "" "" "CHD7(NM_017780.2):c.4275C>T (p.F1425=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949104" "0" "30" "8" "61754274" "61754274" "subst" "1.21844E-5" "02326" "CHD7_000549" "g.61754274T>C" "" "" "" "CHD7(NM_017780.2):c.4605T>C (p.A1535=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949105" "0" "50" "8" "61757523" "61757523" "subst" "0" "02330" "CHD7_000550" "g.61757523C>T" "" "" "" "CHD7(NM_017780.4):c.4951C>T (p.L1651F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949106" "0" "50" "8" "61765088" "61765088" "subst" "0" "02325" "CHD7_000551" "g.61765088C>T" "" "" "" "CHD7(NM_017780.4):c.5926C>T (p.R1976C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949107" "0" "50" "8" "61765633" "61765633" "subst" "1.62665E-5" "02325" "CHD7_000068" "g.61765633C>T" "" "" "" "CHD7(NM_017780.2):c.6349C>T (p.L2117F), CHD7(NM_017780.4):c.6349C>T (p.L2117F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000949108" "0" "30" "8" "61769324" "61769324" "subst" "0.00027631" "02326" "CHD7_000552" "g.61769324G>T" "" "" "" "CHD7(NM_017780.2):c.7485G>T (p.R2495S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949109" "0" "90" "8" "61774803" "61774803" "subst" "0" "02327" "CHD7_000406" "g.61774803C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000949110" "0" "30" "8" "61774838" "61774838" "subst" "0" "02326" "CHD7_000553" "g.61774838A>C" "" "" "" "CHD7(NM_017780.2):c.7914A>C (p.I2638=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000949111" "0" "50" "8" "61778197" "61778197" "subst" "0" "02325" "CHD7_000554" "g.61778197C>A" "" "" "" "CHD7(NM_017780.4):c.8699C>A (p.P2900Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000965029" "0" "10" "8" "61654081" "61654081" "subst" "0.000171882" "02330" "CHD7_000008" "g.61654081G>A" "" "" "" "CHD7(NM_017780.2):c.90G>A (p.P30=), CHD7(NM_017780.4):c.90G>A (p.P30=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965030" "0" "10" "8" "61654540" "61654540" "subst" "4.07747E-6" "02330" "CHD7_000555" "g.61654540T>C" "" "" "" "CHD7(NM_017780.4):c.549T>C (p.P183=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965033" "0" "30" "8" "61725238" "61725238" "del" "0" "02326" "CHD7_000556" "g.61725238del" "" "" "" "CHD7(NM_017780.2):c.2499-3708delA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000965034" "0" "10" "8" "61725238" "61725238" "dup" "0" "02326" "CHD7_000557" "g.61725238dup" "" "" "" "CHD7(NM_017780.2):c.2499-3708dupA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000965036" "0" "30" "8" "61768562" "61768562" "subst" "0.000158312" "02325" "CHD7_000078" "g.61768562A>G" "" "" "" "CHD7(NM_017780.2):c.6965A>G (p.N2322S), CHD7(NM_017780.3):c.6965A>G (p.(Asn2322Ser)), CHD7(NM_017780.4):c.6965A>G (p.N2322S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978237" "0" "50" "8" "61608051" "61608051" "subst" "0" "01804" "CHD7_000558" "g.61608051T>C" "" "" "" "CHD7(NM_017780.4):c.-175+16410T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978238" "0" "10" "8" "61654300" "61654300" "subst" "0.001313" "01804" "CHD7_000101" "g.61654300G>A" "" "" "" "CHD7(NM_017780.2):c.309G>A (p.S103=), CHD7(NM_017780.4):c.309G>A (p.S103=, p.(Ser103=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978239" "0" "10" "8" "61654648" "61654648" "subst" "0.0019703" "01804" "CHD7_000106" "g.61654648C>T" "" "" "" "CHD7(NM_017780.2):c.657C>T (p.G219=), CHD7(NM_017780.4):c.657C>T (p.G219=, p.(Gly219=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978240" "0" "10" "8" "61654847" "61654847" "subst" "0.000699329" "01804" "CHD7_000275" "g.61654847A>G" "" "" "" "CHD7(NM_017780.2):c.856A>G (p.R286G), CHD7(NM_017780.4):c.856A>G (p.R286G, p.(Arg286Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978241" "0" "10" "8" "61707572" "61707572" "subst" "0.0124974" "01804" "CHD7_000118" "g.61707572T>C" "" "" "" "CHD7(NM_017780.4):c.2124T>C (p.S708=, p.(Ser708=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978242" "0" "10" "8" "61707678" "61707678" "subst" "0.00102133" "01804" "CHD7_000038" "g.61707678G>A" "" "" "" "CHD7(NM_017780.4):c.2230G>A (p.G744S, p.(Gly744Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978243" "0" "30" "8" "61725237" "61725238" "del" "0" "02326" "CHD7_000559" "g.61725237_61725238del" "" "" "" "CHD7(NM_017780.2):c.2499-3709_2499-3708delAA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978244" "0" "30" "8" "61736419" "61736419" "subst" "0.00021154" "01804" "CHD7_000560" "g.61736419C>T" "" "" "" "CHD7(NM_017780.4):c.3222C>T (p.(Ser1074=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978245" "0" "50" "8" "61750797" "61750797" "subst" "3.04393E-5" "01804" "CHD7_000561" "g.61750797G>A" "" "" "" "CHD7(NM_017780.4):c.4516G>A (p.(Gly1506Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978246" "0" "10" "8" "61761616" "61761616" "subst" "0.0040258" "01804" "CHD7_000194" "g.61761616C>T" "" "" "" "CHD7(NM_017780.4):c.5307C>T (p.A1769=, p.(Ala1769=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978247" "0" "30" "8" "61762639" "61762639" "subst" "0" "01804" "CHD7_000562" "g.61762639G>A" "" "" "" "CHD7(NM_017780.4):c.5405-413G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978248" "0" "50" "8" "61763180" "61763180" "subst" "3.78199E-5" "02326" "CHD7_000563" "g.61763180G>A" "" "" "" "CHD7(NM_017780.2):c.5533G>A (p.G1845R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978249" "0" "30" "8" "61765242" "61765242" "subst" "0.000390019" "02325" "CHD7_000334" "g.61765242G>A" "" "" "" "CHD7(NM_017780.4):c.6080G>A (p.R2027Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978250" "0" "30" "8" "61765395" "61765395" "subst" "0.00656225" "01804" "CHD7_000257" "g.61765395C>T" "" "" "" "CHD7(NM_017780.2):c.6111C>T (p.P2037=), CHD7(NM_017780.4):c.6111C>T (p.P2037=, p.(Pro2037=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978251" "0" "10" "8" "61765762" "61765762" "subst" "0.00103786" "01804" "CHD7_000069" "g.61765762G>A" "" "" "" "CHD7(NM_017780.4):c.6478G>A (p.A2160T, p.(Ala2160Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000978252" "0" "50" "8" "61766963" "61766963" "subst" "4.06474E-6" "01804" "CHD7_000564" "g.61766963A>G" "" "" "" "CHD7(NM_017780.4):c.6817A>G (p.(Asn2273Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978253" "0" "30" "8" "61769429" "61769429" "subst" "0.00120131" "01804" "CHD7_000087" "g.61769429A>G" "" "" "" "CHD7(NM_017780.4):c.7590A>G (p.K2530=, p.(Lys2530=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000978254" "0" "50" "8" "61773527" "61773527" "subst" "8.12236E-6" "02326" "CHD7_000565" "g.61773527C>T" "" "" "" "CHD7(NM_017780.2):c.7673C>T (p.P2558L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978255" "0" "50" "8" "61777785" "61777793" "del" "0" "01804" "CHD7_000566" "g.61777785_61777793del" "" "" "" "CHD7(NM_017780.4):c.8287_8295del (p.(Asn2763_Gln2765del)), CHD7(NM_017780.4):c.8287_8295delAATCTCCAG (p.N2763_Q2765del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000978256" "0" "50" "8" "61778383" "61778383" "subst" "0" "02325" "CHD7_000567" "g.61778383T>G" "" "" "" "CHD7(NM_017780.4):c.8885T>G (p.L2962R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000985230" "0" "70" "8" "61763146" "61763147" "del" "0" "03544" "CHD7_000568" "g.61763146_61763147del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.60850587_60850588del" "{CV:3367164}" "likely pathogenic" "ACMG" "0000997238" "0" "90" "8" "61654025" "61654025" "subst" "0" "02325" "CHD7_000569" "g.61654025G>T" "" "" "" "CHD7(NM_017780.4):c.34G>T (p.E12*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997239" "0" "50" "8" "61654074" "61654074" "subst" "0" "01804" "CHD7_000570" "g.61654074G>C" "" "" "" "CHD7(NM_017780.3):c.83G>C (p.(Gly28Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997240" "0" "30" "8" "61654118" "61654118" "subst" "0.000301617" "01804" "CHD7_000423" "g.61654118A>G" "" "" "" "CHD7(NM_017780.2):c.127A>G (p.I43V), CHD7(NM_017780.3):c.127A>G (p.(Ile43Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997241" "0" "30" "8" "61654231" "61654231" "subst" "5.28339E-5" "01804" "CHD7_000571" "g.61654231G>A" "" "" "" "CHD7(NM_017780.3):c.240G>A (p.(Met80Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997242" "0" "90" "8" "61654273" "61654273" "del" "0" "02325" "CHD7_000100" "g.61654273del" "" "" "" "CHD7(NM_017780.4):c.282delT (p.N96Tfs*115)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000997243" "0" "30" "8" "61654411" "61654411" "subst" "0" "01804" "CHD7_000572" "g.61654411C>G" "" "" "" "CHD7(NM_017780.3):c.420C>G (p.(Asp140Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997244" "0" "30" "8" "61654464" "61654464" "subst" "0" "01804" "CHD7_000573" "g.61654464C>T" "" "" "" "CHD7(NM_017780.3):c.473C>T (p.(Ala158Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997245" "0" "30" "8" "61654473" "61654473" "subst" "3.32718E-5" "01804" "CHD7_000574" "g.61654473A>G" "" "" "" "CHD7(NM_017780.3):c.482A>G (p.(Gln161Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997246" "0" "30" "8" "61654571" "61654571" "subst" "4.07378E-6" "01804" "CHD7_000575" "g.61654571G>A" "" "" "" "CHD7(NM_017780.3):c.580G>A (p.(Ala194Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997247" "0" "50" "8" "61654677" "61654677" "subst" "0" "01804" "CHD7_000576" "g.61654677C>T" "" "" "" "CHD7(NM_017780.3):c.686C>T (p.(Thr229Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997248" "0" "30" "8" "61655042" "61655042" "subst" "3.24878E-5" "01804" "CHD7_000577" "g.61655042G>A" "" "" "" "CHD7(NM_017780.3):c.1051G>A (p.(Val351Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997249" "0" "50" "8" "61655265" "61655265" "subst" "0" "01804" "CHD7_000578" "g.61655265G>C" "" "" "" "CHD7(NM_017780.3):c.1274G>C (p.(Gly425Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997250" "0" "30" "8" "61655276" "61655276" "subst" "2.03333E-5" "01804" "CHD7_000579" "g.61655276A>C" "" "" "" "CHD7(NM_017780.3):c.1285A>C (p.(Asn429His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997251" "0" "30" "8" "61655415" "61655415" "subst" "1.64715E-5" "01804" "CHD7_000580" "g.61655415T>C" "" "" "" "CHD7(NM_017780.3):c.1424T>C (p.(Met475Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997252" "0" "50" "8" "61693570" "61693570" "subst" "4.85267E-5" "01804" "CHD7_000581" "g.61693570G>A" "" "" "" "CHD7(NM_017780.3):c.1677G>A (p.(Ser559Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997253" "0" "30" "8" "61693589" "61693589" "subst" "8.96451E-6" "01804" "CHD7_000440" "g.61693589C>G" "" "" "" "CHD7(NM_017780.2):c.1696C>G (p.P566A), CHD7(NM_017780.3):c.1696C>G (p.(Pro566Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997254" "0" "50" "8" "61693706" "61693706" "subst" "1.27412E-5" "01804" "CHD7_000367" "g.61693706C>G" "" "" "" "CHD7(NM_017780.2):c.1813C>G (p.H605D), CHD7(NM_017780.3):c.1813C>G (p.(His605Asp)), CHD7(NM_017780.4):c.1813C>G (p.H605D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997255" "0" "50" "8" "61693851" "61693851" "subst" "0" "01804" "CHD7_000582" "g.61693851C>G" "" "" "" "CHD7(NM_017780.3):c.1958C>G (p.(Pro653Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997256" "0" "30" "8" "61693860" "61693860" "subst" "2.90664E-5" "01804" "CHD7_000583" "g.61693860C>T" "" "" "" "CHD7(NM_017780.3):c.1967C>T (p.(Pro656Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997257" "0" "30" "8" "61714084" "61714084" "dup" "0" "01804" "CHD7_000041" "g.61714084dup" "" "" "" "CHD7(NM_017780.2):c.2377-3dupT, CHD7(NM_017780.3):c.2377-3dupT (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997258" "0" "30" "8" "61732591" "61732591" "subst" "2.06446E-5" "01804" "CHD7_000584" "g.61732591A>T" "" "" "" "CHD7(NM_017780.3):c.2639A>T (p.(Asp880Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997259" "0" "50" "8" "61732641" "61732641" "subst" "0" "01804" "CHD7_000585" "g.61732641C>T" "" "" "" "CHD7(NM_017780.3):c.2689C>T (p.(Arg897Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997260" "0" "50" "8" "61734362" "61734362" "subst" "0" "01804" "CHD7_000586" "g.61734362A>G" "" "" "" "CHD7(NM_017780.3):c.2711A>G (p.(Tyr904Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997261" "0" "50" "8" "61735064" "61735064" "subst" "3.25924E-5" "01804" "CHD7_000587" "g.61735064G>A" "" "" "" "CHD7(NM_017780.3):c.2960G>A (p.(Arg987Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997262" "0" "50" "8" "61736581" "61736581" "subst" "0" "01804" "CHD7_000588" "g.61736581T>G" "" "" "" "CHD7(NM_017780.3):c.3378+6T>G (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997263" "0" "50" "8" "61748802" "61748802" "subst" "4.06659E-5" "02325" "CHD7_000589" "g.61748802C>T" "" "" "" "CHD7(NM_017780.4):c.3949C>T (p.R1317C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997264" "0" "50" "8" "61750666" "61750666" "subst" "7.14735E-6" "01804" "CHD7_000590" "g.61750666A>G" "" "" "" "CHD7(NM_017780.3):c.4385A>G (p.(Asp1462Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997265" "0" "30" "8" "61754481" "61754481" "subst" "2.06733E-5" "01804" "CHD7_000248" "g.61754481A>T" "" "" "" "CHD7(NM_017780.2):c.4720A>T (p.M1574L), CHD7(NM_017780.3):c.4720A>T (p.(Met1574Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997266" "0" "70" "8" "61761072" "61761072" "subst" "0" "01804" "CHD7_000591" "g.61761072A>C" "" "" "" "CHD7(NM_017780.3):c.5211-2A>C (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000997267" "0" "50" "8" "61761660" "61761660" "subst" "0" "01804" "CHD7_000592" "g.61761660A>C" "" "" "" "CHD7(NM_017780.3):c.5351A>C (p.(Asp1784Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997268" "0" "30" "8" "61763869" "61763869" "subst" "0" "01804" "CHD7_000593" "g.61763869C>G" "" "" "" "CHD7(NM_017780.3):c.5656C>G (p.(His1886Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997269" "0" "30" "8" "61764578" "61764578" "subst" "0" "01804" "CHD7_000594" "g.61764578G>A" "" "" "" "CHD7(NM_017780.3):c.5666G>A (p.(Gly1889Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997270" "0" "30" "8" "61764760" "61764760" "subst" "0.000232475" "02325" "CHD7_000379" "g.61764760G>A" "" "" "" "CHD7(NM_017780.2):c.5848G>A (p.A1950T), CHD7(NM_017780.4):c.5848G>A (p.A1950T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997271" "0" "30" "8" "61765077" "61765077" "subst" "4.06977E-6" "01804" "CHD7_000210" "g.61765077C>G" "" "" "" "CHD7(NM_017780.3):c.5915C>G (p.(Ala1972Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997272" "0" "50" "8" "61765194" "61765194" "subst" "0" "01804" "CHD7_000332" "g.61765194T>G" "" "" "" "CHD7(NM_017780.3):c.6032T>G (p.(Leu2011Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997273" "0" "50" "8" "61765539" "61765539" "subst" "2.43801E-5" "01804" "CHD7_000595" "g.61765539G>T" "" "" "" "CHD7(NM_017780.3):c.6255G>T (p.(Leu2085Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997274" "0" "30" "8" "61765685" "61765685" "subst" "4.06607E-6" "01804" "CHD7_000498" "g.61765685A>G" "" "" "" "CHD7(NM_017780.2):c.6401A>G (p.N2134S), CHD7(NM_017780.3):c.6401A>G (p.(Asn2134Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997275" "0" "50" "8" "61766030" "61766030" "subst" "0" "01804" "CHD7_000596" "g.61766030A>G" "" "" "" "CHD7(NM_017780.3):c.6746A>G (p.(Asp2249Gly))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997276" "0" "50" "8" "61767026" "61767026" "subst" "0" "01804" "CHD7_000597" "g.61767026C>A" "" "" "" "CHD7(NM_017780.3):c.6880C>A (p.(Pro2294Thr))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997277" "0" "30" "8" "61768694" "61768694" "subst" "8.4679E-6" "01804" "CHD7_000385" "g.61768694T>G" "" "" "" "CHD7(NM_017780.3):c.7097T>G (p.(Leu2366Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997278" "0" "50" "8" "61769229" "61769229" "subst" "0" "02327" "CHD7_000598" "g.61769229A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997279" "0" "50" "8" "61769355" "61769355" "subst" "0" "01804" "CHD7_000599" "g.61769355G>C" "" "" "" "CHD7(NM_017780.3):c.7516G>C (p.(Glu2506Gln))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997280" "0" "30" "8" "61769430" "61769430" "subst" "2.03909E-5" "01804" "CHD7_000484" "g.61769430C>T" "" "" "" "CHD7(NM_017780.2):c.7591C>T (p.R2531W), CHD7(NM_017780.3):c.7591C>T (p.(Arg2531Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000997281" "0" "50" "8" "61777603" "61777603" "subst" "0" "01804" "CHD7_000354" "g.61777603G>A" "" "" "" "CHD7(NM_017780.3):c.8105G>A (p.(Arg2702His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997282" "0" "50" "8" "61777723" "61777723" "subst" "4.14195E-6" "01804" "CHD7_000600" "g.61777723A>G" "" "" "" "CHD7(NM_017780.3):c.8225A>G (p.(Asn2742Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000997283" "0" "30" "8" "61778431" "61778431" "subst" "0" "01804" "CHD7_000601" "g.61778431G>A" "" "" "" "CHD7(NM_017780.3):c.8933G>A (p.(Gly2978Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001008521" "0" "70" "8" "61693700" "61693701" "del" "0" "03544" "CHD7_000602" "g.61693700_61693701del" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.60781141_60781142del" "{CV:3362883}" "likely pathogenic" "ACMG" "0001011761" "0" "70" "8" "61754314" "61754314" "subst" "0" "03544" "CHD7_000603" "g.61754314G>T" "" "" "" "" "" "De novo" "-" "" "0" "" "" "g.60841755G>T" "" "pathogenic" "ACMG" "0001012261" "0" "70" "8" "61757425" "61757425" "subst" "0" "03544" "CHD7_000604" "g.61757425G>A" "" "" "" "" "" "Germline" "yes" "" "0" "" "" "g.60844866G>A" "{CV:3367161}" "likely pathogenic" "ACMG" "0001014455" "0" "30" "8" "61655171" "61655171" "subst" "2.4422E-5" "02326" "CHD7_000605" "g.61655171C>T" "" "" "" "CHD7(NM_017780.2):c.1180C>T (p.P394S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014456" "0" "50" "8" "61693961" "61693961" "subst" "0" "02326" "CHD7_000606" "g.61693961C>T" "" "" "" "CHD7(NM_017780.2):c.2068C>T (p.P690S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014457" "0" "50" "8" "61763148" "61763148" "subst" "4.09293E-6" "02325" "CHD7_000607" "g.61763148G>A" "" "" "" "CHD7(NM_017780.4):c.5501G>A (p.R1834K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001014458" "0" "30" "8" "61765531" "61765531" "subst" "7.72031E-5" "02325" "CHD7_000608" "g.61765531C>T" "" "" "" "CHD7(NM_017780.4):c.6247C>T (p.P2083S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014459" "0" "30" "8" "61765944" "61765944" "subst" "0.00109978" "02326" "CHD7_000074" "g.61765944T>G" "" "" "" "CHD7(NM_017780.2):c.6660T>G (p.G2220=), CHD7(NM_017780.4):c.6660T>G (p.G2220=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001014460" "0" "30" "8" "61778448" "61778448" "subst" "0.00400104" "02327" "CHD7_000095" "g.61778448C>T" "" "" "" "CHD7(NM_001316690.1):c.2803C>T (p.(Leu935Phe)), CHD7(NM_017780.2):c.8950C>T (p.L2984F), CHD7(NM_017780.4):c.8950C>T (p.L2984F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025531" "0" "90" "8" "61654925" "61654925" "subst" "0" "02327" "CHD7_000609" "g.61654925C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025532" "0" "30" "8" "61693851" "61693851" "subst" "0.000297672" "02325" "CHD7_000287" "g.61693851C>T" "" "" "" "CHD7(NM_017780.2):c.1958C>T (p.P653L), CHD7(NM_017780.4):c.1958C>T (p.P653L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001025533" "0" "70" "8" "61729050" "61729050" "subst" "0" "02327" "CHD7_000610" "g.61729050T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025534" "0" "50" "8" "61736496" "61736496" "subst" "5.69078E-5" "02325" "CHD7_000373" "g.61736496G>A" "" "" "" "CHD7(NM_017780.2):c.3299G>A (p.R1100H), CHD7(NM_017780.4):c.3299G>A (p.R1100H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025535" "0" "90" "8" "61748675" "61748675" "del" "0" "02325" "CHD7_000611" "g.61748675del" "" "" "" "CHD7(NM_017780.4):c.3822delT (p.N1274Kfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001025536" "0" "70" "8" "61761711" "61761711" "subst" "0" "02329" "CHD7_000612" "g.61761711A>C" "" "" "" "CHD7(NM_017780.4):c.5402A>C (p.H1801P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001025537" "0" "50" "8" "61777785" "61777793" "del" "0" "02325" "CHD7_000566" "g.61777785_61777793del" "" "" "" "CHD7(NM_017780.4):c.8287_8295del (p.(Asn2763_Gln2765del)), CHD7(NM_017780.4):c.8287_8295delAATCTCCAG (p.N2763_Q2765del)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001025538" "0" "50" "8" "61778455" "61778455" "subst" "0" "02325" "CHD7_000613" "g.61778455G>C" "" "" "" "CHD7(NM_017780.4):c.8957G>C (p.G2986A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001027543" "0" "90" "8" "61763075" "61763075" "subst" "0" "00006" "CHD7_000199" "g.61763075C>T" "" "{PMID:Boissel 2017:29261186}" "" "" "" "De novo" "" "" "0" "" "" "g.60850516C>T" "" "pathogenic (dominant)" "" "0001029699" "0" "70" "8" "61728945" "61728945" "subst" "0" "01164" "CHD7_000614" "g.61728945G>C" "" "" "" "" "ACMG: PVS1, PS2_SUP, PM2_SUP, confirmed de novo" "De novo" "-" "" "" "" "" "g.60816386G>C" "" "pathogenic (dominant)" "ACMG" "0001036997" "0" "50" "8" "61654751" "61654751" "subst" "0" "01804" "CHD7_000468" "g.61654751C>G" "" "" "" "CHD7(NM_017780.2):c.760C>G (p.Q254E), CHD7(NM_017780.4):c.760C>G (p.(Gln254Glu), p.Q254E)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001036998" "0" "30" "8" "61655414" "61655414" "subst" "4.11828E-5" "01804" "CHD7_000615" "g.61655414A>G" "" "" "" "CHD7(NM_017780.4):c.1423A>G (p.(Met475Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001036999" "0" "30" "8" "61656052" "61656052" "subst" "0" "01804" "CHD7_000616" "g.61656052C>T" "" "" "" "CHD7(NM_017780.4):c.1665+396C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037000" "0" "30" "8" "61693946" "61693951" "dup" "0" "01804" "CHD7_000114" "g.61693946_61693951dup" "" "" "" "CHD7(NM_017780.2):c.2053_2058dupGCAAAA (p.A685_K686dup), CHD7(NM_017780.4):c.2053_2058dup (p.(Ala685_Lys686dup)), CHD7(NM_017780.4):c.2053_2058dupG..." "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037001" "0" "30" "8" "61707630" "61707630" "subst" "6.50111E-5" "01804" "CHD7_000471" "g.61707630G>C" "" "" "" "CHD7(NM_017780.2):c.2182G>C (p.D728H), CHD7(NM_017780.4):c.2182G>C (p.(Asp728His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037002" "0" "30" "8" "61712784" "61712784" "subst" "0" "01804" "CHD7_000617" "g.61712784T>G" "" "" "" "CHD7(NM_017780.4):c.2239-163T>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037003" "0" "30" "8" "61736524" "61736524" "subst" "0" "01804" "CHD7_000618" "g.61736524G>A" "" "" "" "CHD7(NM_017780.4):c.3327G>A (p.(Arg1109=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037004" "0" "30" "8" "61762737" "61762737" "subst" "0" "01804" "CHD7_000619" "g.61762737C>T" "" "" "" "CHD7(NM_017780.4):c.5405-315C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037005" "0" "50" "8" "61763620" "61763620" "subst" "0" "02325" "CHD7_000620" "g.61763620C>T" "" "" "" "CHD7(NM_017780.4):c.5564C>T (p.P1855L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037006" "0" "50" "8" "61764768" "61764768" "subst" "0" "01804" "CHD7_000621" "g.61764768A>C" "" "" "" "CHD7(NM_017780.4):c.5856A>C (p.(Glu1952Asp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037007" "0" "30" "8" "61765419" "61765419" "subst" "0.0308872" "01804" "CHD7_000214" "g.61765419G>A" "" "" "" "CHD7(NM_017780.2):c.6135G>A (p.P2045=), CHD7(NM_017780.4):c.6135G>A (p.P2045=, p.(Pro2045=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037008" "0" "70" "8" "61765443" "61765444" "ins" "0" "01804" "CHD7_000622" "g.61765443_61765444insG" "" "" "" "CHD7(NM_017780.4):c.6159_6160insG (p.(Thr2054Aspfs*6))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001037009" "0" "50" "8" "61765835" "61765835" "subst" "0" "02330" "CHD7_000623" "g.61765835A>T" "" "" "" "CHD7(NM_017780.4):c.6551A>T (p.K2184M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037010" "0" "50" "8" "61765895" "61765895" "subst" "0" "01804" "CHD7_000624" "g.61765895A>G" "" "" "" "CHD7(NM_017780.4):c.6611A>G (p.(Lys2204Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001037011" "0" "30" "8" "61765966" "61765966" "subst" "5.62974E-5" "01804" "CHD7_000532" "g.61765966G>A" "" "" "" "CHD7(NM_017780.2):c.6682G>A (p.G2228R), CHD7(NM_017780.4):c.6682G>A (p.(Gly2228Arg))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037012" "0" "30" "8" "61766022" "61766022" "subst" "0.00483884" "01804" "CHD7_000224" "g.61766022G>A" "" "" "" "CHD7(NM_017780.4):c.6738G>A (p.E2246=, p.(Glu2246=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037013" "0" "30" "8" "61768586" "61768586" "subst" "0.0001737" "01804" "CHD7_000522" "g.61768586G>C" "" "" "" "CHD7(NM_017780.4):c.6989G>C (p.(Gly2330Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001037014" "0" "30" "8" "61769117" "61769117" "subst" "0.000264069" "01804" "CHD7_000230" "g.61769117G>A" "" "" "" "CHD7(NM_017780.2):c.7278G>A (p.Q2426=), CHD7(NM_017780.4):c.7278G>A (p.(Gln2426=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001046164" "0" "50" "8" "61654344" "61654344" "subst" "0" "02325" "CHD7_000625" "g.61654344G>A" "" "" "" "CHD7(NM_017780.4):c.353G>A (p.S118N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046165" "0" "50" "8" "61765640" "61765640" "subst" "0" "02327" "CHD7_000626" "g.61765640A>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0001046166" "0" "50" "8" "61765652" "61765652" "subst" "0" "02325" "CHD7_000627" "g.61765652C>T" "" "" "" "CHD7(NM_017780.4):c.6368C>T (p.S2123F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes CHD7 ## Count = 790 "{{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}}" "0000079623" "00000234" "90" "-174" "-6325" "1665" "93" "c.-174-6325_1665+93del" "r.0?" "p.0?" "_1_2i" "0000079634" "00000234" "90" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886Gln)" "9" "0000080489" "00000234" "90" "3398" "0" "3398" "0" "c.3398C>T" "r.(?)" "p.(Thr1133Met)" "14" "0000080527" "00000234" "90" "2442" "5" "2442" "5" "c.2442+5G>C" "r.spl?" "p.0?" "6i" "0000130054" "00000234" "90" "2959" "0" "2959" "0" "c.2959C>T" "r.(?)" "p.(Arg987*)" "" "0000170840" "00000234" "50" "8416" "0" "8416" "0" "c.8416C>G" "r.(?)" "p.(Leu2806Val)" "38" "0000170844" "00000234" "50" "3613" "0" "3613" "0" "c.3613A>G" "r.(?)" "p.(Ile1205Val)" "15" "0000248607" "00000234" "10" "7590" "0" "7590" "0" "c.7590A>G" "r.(?)" "p.(Lys2530=)" "" "0000249803" "00000234" "50" "4696" "0" "4696" "0" "c.4696A>G" "r.(?)" "p.(Ser1566Gly)" "" "0000249829" "00000234" "50" "4847" "0" "4847" "0" "c.4847A>G" "r.(?)" "p.(Tyr1616Cys)" "" "0000250697" "00000234" "10" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Met340Val)" "" "0000253049" "00000234" "30" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Met340Val)" "" "0000253455" "00000234" "10" "1179" "0" "1179" "0" "c.1179A>G" "r.(?)" "p.(Pro393=)" "" "0000253456" "00000234" "10" "7356" "0" "7356" "0" "c.7356A>G" "r.(?)" "p.(Thr2452=)" "" "0000253822" "00000234" "10" "2697" "26" "2697" "26" "c.2697+26A>G" "r.(=)" "p.(=)" "" "0000253823" "00000234" "10" "3990" "-59" "3990" "-59" "c.3990-59del" "r.(=)" "p.(=)" "" "0000254425" "00000234" "30" "6282" "0" "6282" "0" "c.6282A>G" "r.(?)" "p.(Gly2094=)" "" "0000254718" "00000234" "30" "4720" "0" "4720" "0" "c.4720A>T" "r.(?)" "p.(Met1574Leu)" "" "0000254726" "00000234" "30" "7579" "0" "7579" "0" "c.7579A>C" "r.(?)" "p.(Met2527Leu)" "" "0000255430" "00000234" "90" "6746" "0" "6746" "0" "c.6746del" "r.(?)" "p.(Asp2249ValfsTer28)" "" "0000255431" "00000234" "90" "7769" "0" "7769" "0" "c.7769del" "r.(?)" "p.(Asp2590ValfsTer2)" "" "0000255578" "00000234" "90" "3200" "0" "3200" "0" "c.3200A>G" "r.(?)" "p.(Gln1067Arg)" "" "0000266759" "00000234" "30" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "0000266761" "00000234" "10" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Ser)" "" "0000266762" "00000234" "10" "6478" "0" "6478" "0" "c.6478G>A" "r.(?)" "p.(Ala2160Thr)" "" "0000268109" "00000234" "50" "4879" "0" "4879" "0" "c.4879C>T" "r.(?)" "p.(His1627Tyr)" "" "0000270145" "00000234" "10" "307" "0" "307" "0" "c.307T>A" "r.(?)" "p.(Ser103Thr)" "" "0000270146" "00000234" "10" "6103" "8" "6103" "8" "c.6103+8C>T" "r.(=)" "p.(=)" "" "0000270147" "00000234" "10" "8950" "0" "8950" "0" "c.8950C>T" "r.(?)" "p.(Leu2984Phe)" "" "0000273447" "00000234" "90" "1004" "0" "1004" "0" "c.1004del" "r.(?)" "p.(Thr335LysfsTer6)" "" "0000273448" "00000234" "90" "1247" "0" "1247" "0" "c.1247dup" "r.(?)" "p.(Ser417LysfsTer158)" "" "0000273449" "00000234" "50" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Pro428Ser)" "" "0000273450" "00000234" "90" "1393" "0" "1393" "0" "c.1393del" "r.(?)" "p.(Ser465ProfsTer7)" "" "0000273451" "00000234" "30" "1419" "0" "1419" "0" "c.1419G>C" "r.(?)" "p.(Gly473=)" "" "0000273452" "00000234" "30" "141" "0" "141" "0" "c.141T>C" "r.(?)" "p.(Phe47=)" "" "0000273453" "00000234" "10" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000273454" "00000234" "90" "1808" "0" "1808" "0" "c.1808dup" "r.(?)" "p.(Asn603LysfsTer11)" "" "0000273455" "00000234" "30" "1823" "0" "1823" "0" "c.1823C>G" "r.(?)" "p.(Ala608Gly)" "" "0000273456" "00000234" "90" "1828" "0" "1828" "0" "c.1828dup" "r.(?)" "p.(Asp610GlyfsTer4)" "" "0000273458" "00000234" "10" "2096" "21" "2096" "21" "c.2096+21dup" "r.(=)" "p.(=)" "" "0000273459" "00000234" "90" "2182" "0" "2182" "0" "c.2182del" "r.(?)" "p.(Asp728ThrfsTer27)" "" "0000273460" "00000234" "50" "2218" "0" "2218" "0" "c.2218G>A" "r.(?)" "p.(Asp740Asn)" "" "0000273461" "00000234" "90" "2238" "1" "2238" "1" "c.2238+1G>A" "r.spl?" "p.?" "" "0000273463" "00000234" "10" "2377" "-3" "2377" "-3" "c.2377-3dup" "r.spl?" "p.?" "" "0000273464" "00000234" "50" "257" "0" "257" "0" "c.257C>T" "r.(?)" "p.(Pro86Leu)" "" "0000273465" "00000234" "10" "2614" "-14" "2614" "-14" "c.2614-14del" "r.(=)" "p.(=)" "" "0000273466" "00000234" "90" "2643" "0" "2643" "0" "c.2643T>A" "r.(?)" "p.(Tyr881Ter)" "" "0000273467" "00000234" "10" "2698" "-124" "2698" "-123" "c.2698-124_2698-123del" "r.(=)" "p.(=)" "" "0000273468" "00000234" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Thr917=)" "" "0000273469" "00000234" "30" "307" "0" "307" "0" "c.307T>A" "r.(?)" "p.(Ser103Thr)" "" "0000273470" "00000234" "90" "3113" "0" "3113" "0" "c.3113G>A" "r.(?)" "p.(Trp1038Ter)" "" "0000273471" "00000234" "90" "3199" "0" "3199" "0" "c.3199del" "r.(?)" "p.(Gln1067ArgfsTer4)" "" "0000273472" "00000234" "10" "3202" "-5" "3202" "-5" "c.3202-5T>C" "r.spl?" "p.?" "" "0000273474" "00000234" "90" "3301" "0" "3301" "0" "c.3301T>C" "r.(?)" "p.(Cys1101Arg)" "" "0000273475" "00000234" "10" "3366" "0" "3366" "0" "c.3366G>C" "r.(?)" "p.(Lys1122Asn)" "" "0000273476" "00000234" "10" "3378" "18" "3378" "18" "c.3378+18T>C" "r.(=)" "p.(=)" "" "0000273477" "00000234" "90" "3520" "0" "3520" "0" "c.3520C>T" "r.(?)" "p.(Gln1174Ter)" "" "0000273478" "00000234" "10" "3778" "17" "3778" "17" "c.3778+17C>T" "r.(=)" "p.(=)" "" "0000273479" "00000234" "30" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Gly1479=)" "" "0000273482" "00000234" "90" "5390" "0" "5390" "0" "c.5390G>A" "r.(?)" "p.(Gly1797Glu)" "" "0000273484" "00000234" "90" "5405" "-17" "5405" "-17" "c.5405-17G>A" "r.(=)" "p.(=)" "" "0000273486" "00000234" "90" "5708" "0" "5708" "0" "c.5708G>A" "r.(?)" "p.(Trp1903Ter)" "" "0000273487" "00000234" "50" "5828" "0" "5828" "0" "c.5828G>A" "r.(?)" "p.(Arg1943Gln)" "" "0000273488" "00000234" "90" "5981" "0" "5981" "0" "c.5981G>A" "r.(?)" "p.(Trp1994Ter)" "" "0000273489" "00000234" "10" "6103" "8" "6103" "8" "c.6103+8C>T" "r.(=)" "p.(=)" "" "0000273490" "00000234" "30" "6111" "0" "6111" "0" "c.6111C>T" "r.(?)" "p.(Pro2037=)" "" "0000273492" "00000234" "10" "6135" "0" "6135" "0" "c.6135G>A" "r.(?)" "p.(Pro2045=)" "" "0000273493" "00000234" "10" "6276" "0" "6276" "0" "c.6276G>A" "r.(?)" "p.(Glu2092=)" "" "0000273494" "00000234" "90" "6292" "0" "6292" "0" "c.6292C>T" "r.(?)" "p.(Arg2098Ter)" "" "0000273495" "00000234" "50" "6349" "0" "6349" "0" "c.6349C>T" "r.(?)" "p.(Leu2117Phe)" "" "0000273496" "00000234" "30" "6513" "0" "6513" "0" "c.6513C>T" "r.(?)" "p.(Ala2171=)" "" "0000273497" "00000234" "50" "6514" "0" "6514" "0" "c.6514G>A" "r.(?)" "p.(Glu2172Lys)" "" "0000273498" "00000234" "90" "6604" "0" "6604" "0" "c.6604G>T" "r.(?)" "p.(Glu2202Ter)" "" "0000273499" "00000234" "30" "6660" "0" "6660" "0" "c.6660T>G" "r.(?)" "p.(Gly2220=)" "" "0000273500" "00000234" "90" "6850" "0" "6850" "0" "c.6850C>T" "r.(?)" "p.(Arg2284Ter)" "" "0000273501" "00000234" "90" "6936" "1" "6936" "1" "c.6936+1G>A" "r.spl?" "p.?" "" "0000273502" "00000234" "90" "7160" "0" "7160" "0" "c.7160C>A" "r.(?)" "p.(Ser2387Ter)" "" "0000273503" "00000234" "50" "7193" "0" "7193" "0" "c.7193G>A" "r.(?)" "p.(Arg2398His)" "" "0000273504" "00000234" "10" "7209" "0" "7209" "0" "c.7209G>A" "r.(?)" "p.(Arg2403=)" "" "0000273505" "00000234" "90" "7228" "0" "7228" "0" "c.7228del" "r.(?)" "p.(Glu2410ArgfsTer33)" "" "0000273507" "00000234" "90" "7772" "0" "7772" "0" "c.7772dup" "r.(?)" "p.(Leu2591PhefsTer3)" "" "0000273508" "00000234" "90" "7803" "0" "7803" "0" "c.7803C>G" "r.(?)" "p.(Tyr2601Ter)" "" "0000273509" "00000234" "90" "8077" "-1" "8077" "-1" "c.8077-1G>A" "r.spl?" "p.?" "" "0000273510" "00000234" "90" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282Ter)" "" "0000273511" "00000234" "30" "8571" "0" "8571" "0" "c.8571T>C" "r.(?)" "p.(Ser2857=)" "" "0000273512" "00000234" "30" "8661" "0" "8661" "0" "c.8661G>A" "r.(?)" "p.(Pro2887=)" "" "0000273513" "00000234" "10" "8950" "0" "8950" "0" "c.8950C>T" "r.(?)" "p.(Leu2984Phe)" "" "0000273514" "00000234" "30" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Pro30=)" "" "0000273515" "00000234" "90" "921" "0" "922" "0" "c.921_922del" "r.(?)" "p.(Gly308AlafsTer9)" "" "0000273516" "00000234" "90" "964" "0" "965" "0" "c.964_965del" "r.(?)" "p.(Leu322SerfsTer2)" "" "0000332137" "00000234" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250His)" "" "0000332138" "00000234" "50" "1238" "0" "1238" "0" "c.1238T>G" "r.(?)" "p.(Val413Gly)" "" "0000332139" "00000234" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Cys)" "" "0000332140" "00000234" "30" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "0000332142" "00000234" "50" "2012" "0" "2012" "0" "c.2012C>T" "r.(?)" "p.(Pro671Leu)" "" "0000332144" "00000234" "50" "2147" "0" "2147" "0" "c.2147A>C" "r.(?)" "p.(Lys716Thr)" "" "0000332145" "00000234" "50" "2377" "-3" "2377" "-2" "c.2377-3_2377-2insTCCTAAAA" "r.spl?" "p.?" "" "0000332146" "00000234" "50" "2377" "-1" "2377" "-1" "c.2377-1G>A" "r.spl?" "p.?" "" "0000332147" "00000234" "50" "2504" "0" "2508" "0" "c.2504_2508del" "r.(?)" "p.(Tyr835SerfsTer14)" "" "0000332148" "00000234" "50" "2680" "0" "2680" "0" "c.2680A>G" "r.(?)" "p.(Thr894Ala)" "" "0000332150" "00000234" "50" "2900" "0" "2900" "0" "c.2900A>T" "r.(?)" "p.(Lys967Ile)" "" "0000332151" "00000234" "50" "3202" "-5" "3202" "-5" "c.3202-5T>C" "r.spl?" "p.?" "" "0000332152" "00000234" "50" "4873" "0" "4873" "0" "c.4873C>T" "r.(?)" "p.(Leu1625Phe)" "" "0000332153" "00000234" "30" "5051" "-4" "5051" "-4" "c.5051-4C>T" "r.spl?" "p.?" "" "0000332154" "00000234" "50" "5378" "0" "5378" "0" "c.5378C>G" "r.(?)" "p.(Ser1793Cys)" "" "0000332155" "00000234" "50" "5816" "0" "5816" "0" "c.5816G>A" "r.(?)" "p.(Arg1939Gln)" "" "0000332157" "00000234" "50" "6615" "0" "6615" "0" "c.6615G>C" "r.(?)" "p.(Gln2205His)" "" "0000332158" "00000234" "50" "6965" "0" "6965" "0" "c.6965A>G" "r.(?)" "p.(Asn2322Ser)" "" "0000332160" "00000234" "50" "8225" "0" "8225" "0" "c.8225A>T" "r.(?)" "p.(Asn2742Ile)" "" "0000338500" "00000234" "10" "-380" "0" "-380" "0" "c.-380C>T" "r.(?)" "p.(=)" "" "0000338502" "00000234" "90" "2097" "-1" "2097" "-1" "c.2097-1G>A" "r.spl?" "p.?" "" "0000338503" "00000234" "50" "2442" "5" "2442" "5" "c.2442+5G>C" "r.spl?" "p.?" "" "0000338509" "00000234" "70" "2957" "5" "2957" "5" "c.2957+5G>A" "r.spl?" "p.?" "" "0000338510" "00000234" "90" "3201" "0" "3201" "0" "c.3201G>A" "r.(?)" "p.(Gln1067=)" "" "0000338511" "00000234" "70" "3378" "5" "3378" "5" "c.3378+5G>C" "r.spl?" "p.?" "" "0000338512" "00000234" "70" "3379" "-3" "3379" "-3" "c.3379-3C>G" "r.spl?" "p.?" "" "0000338513" "00000234" "90" "3522" "2" "3522" "2" "c.3522+2T>C" "r.spl?" "p.?" "" "0000338514" "00000234" "90" "3989" "1" "3989" "1" "c.3989+1G>C" "r.spl?" "p.?" "" "0000338515" "00000234" "90" "5050" "1" "5050" "1" "c.5050+1G>A" "r.spl?" "p.?" "" "0000338516" "00000234" "10" "5051" "-4" "5051" "-4" "c.5051-4C>T" "r.spl?" "p.?" "" "0000338517" "00000234" "90" "5301" "-2" "5301" "-2" "c.5301-2A>G" "r.spl?" "p.?" "" "0000338518" "00000234" "90" "5405" "-17" "5405" "-17" "c.5405-17G>A" "r.(=)" "p.(=)" "" "0000338519" "00000234" "90" "5405" "-7" "5405" "-7" "c.5405-7G>A" "r.(=)" "p.(=)" "" "0000338520" "00000234" "90" "5535" "-1" "5535" "-1" "c.5535-1G>T" "r.spl?" "p.?" "" "0000338521" "00000234" "10" "6103" "8" "6103" "8" "c.6103+8C>T" "r.(=)" "p.(=)" "" "0000338522" "00000234" "90" "8077" "-2" "8077" "-2" "c.8077-2A>G" "r.spl?" "p.?" "" "0000338523" "00000234" "90" "8077" "-2" "8077" "-2" "c.8077-2A>C" "r.spl?" "p.?" "" "0000340293" "00000234" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Ser103=)" "" "0000340294" "00000234" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Gly219=)" "" "0000340295" "00000234" "10" "1419" "0" "1419" "0" "c.1419G>C" "r.(?)" "p.(Gly473=)" "" "0000340297" "00000234" "10" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Thr689=)" "" "0000340298" "00000234" "10" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(Ser708=)" "" "0000340307" "00000234" "70" "4353" "0" "4353" "0" "c.4353G>T" "r.(?)" "p.(Gly1451=)" "" "0000340308" "00000234" "10" "5307" "0" "5307" "0" "c.5307C>T" "r.(?)" "p.(Ala1769=)" "" "0000340309" "00000234" "30" "5697" "0" "5697" "0" "c.5697C>G" "r.(?)" "p.(Gly1899=)" "" "0000340310" "00000234" "10" "5754" "0" "5754" "0" "c.5754T>C" "r.(?)" "p.(Thr1918=)" "" "0000340311" "00000234" "10" "6135" "0" "6135" "0" "c.6135G>A" "r.(?)" "p.(Pro2045=)" "" "0000340312" "00000234" "10" "6276" "0" "6276" "0" "c.6276G>A" "r.(?)" "p.(Glu2092=)" "" "0000340313" "00000234" "30" "6660" "0" "6660" "0" "c.6660T>G" "r.(?)" "p.(Gly2220=)" "" "0000340314" "00000234" "10" "6738" "0" "6738" "0" "c.6738G>A" "r.(?)" "p.(Glu2246=)" "" "0000340315" "00000234" "10" "6924" "0" "6924" "0" "c.6924G>A" "r.(?)" "p.(Ser2308=)" "" "0000340316" "00000234" "10" "7278" "0" "7278" "0" "c.7278G>A" "r.(?)" "p.(Gln2426=)" "" "0000340317" "00000234" "10" "7590" "0" "7590" "0" "c.7590A>G" "r.(?)" "p.(Lys2530=)" "" "0000340616" "00000234" "10" "6282" "0" "6282" "0" "c.6282A>G" "r.(?)" "p.(Gly2094=)" "" "0000341107" "00000234" "70" "3236" "0" "3236" "0" "c.3236C>A" "r.(?)" "p.(Ala1079Asp)" "" "0000341251" "00000234" "30" "5915" "0" "5915" "0" "c.5915C>G" "r.(?)" "p.(Ala1972Gly)" "" "0000341270" "00000234" "10" "6478" "0" "6478" "0" "c.6478G>A" "r.(?)" "p.(Ala2160Thr)" "" "0000341554" "00000234" "30" "2053" "0" "2058" "0" "c.2053_2058dup" "r.(?)" "p.(Ala685_Lys686dup)" "" "0000341795" "00000234" "90" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219Ter)" "" "0000341863" "00000234" "90" "4015" "0" "4015" "0" "c.4015C>T" "r.(?)" "p.(Arg1339Ter)" "" "0000341868" "00000234" "90" "4034" "0" "4034" "0" "c.4034G>A" "r.(?)" "p.(Arg1345His)" "" "0000341941" "00000234" "90" "4393" "0" "4393" "0" "c.4393C>T" "r.(?)" "p.(Arg1465Ter)" "" "0000341950" "00000234" "90" "4480" "0" "4480" "0" "c.4480C>T" "r.(?)" "p.(Arg1494Ter)" "" "0000342045" "00000234" "90" "5029" "0" "5029" "0" "c.5029C>T" "r.(?)" "p.(Arg1677Ter)" "" "0000342108" "00000234" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Ter)" "" "0000342114" "00000234" "90" "5458" "0" "5458" "0" "c.5458C>T" "r.(?)" "p.(Arg1820Ter)" "" "0000342170" "00000234" "90" "5833" "0" "5833" "0" "c.5833C>T" "r.(?)" "p.(Arg1945Ter)" "" "0000342197" "00000234" "90" "6079" "0" "6079" "0" "c.6079C>T" "r.(?)" "p.(Arg2027Ter)" "" "0000342209" "00000234" "90" "6157" "0" "6157" "0" "c.6157C>T" "r.(?)" "p.(Arg2053Ter)" "" "0000342329" "00000234" "90" "6955" "0" "6955" "0" "c.6955C>T" "r.(?)" "p.(Arg2319Cys)" "" "0000342379" "00000234" "90" "7252" "0" "7252" "0" "c.7252C>T" "r.(?)" "p.(Arg2418Ter)" "" "0000342382" "00000234" "90" "7282" "0" "7282" "0" "c.7282C>T" "r.(?)" "p.(Arg2428Ter)" "" "0000343006" "00000234" "90" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Ter)" "" "0000343454" "00000234" "50" "2657" "0" "2657" "0" "c.2657G>A" "r.(?)" "p.(Arg886Gln)" "" "0000343501" "00000234" "30" "2831" "0" "2831" "0" "c.2831G>A" "r.(?)" "p.(Arg944His)" "" "0000343505" "00000234" "90" "2839" "0" "2839" "0" "c.2839C>T" "r.(?)" "p.(Arg947Ter)" "" "0000343549" "00000234" "90" "3089" "0" "3089" "0" "c.3089A>G" "r.(?)" "p.(Asn1030Ser)" "" "0000343565" "00000234" "70" "3340" "0" "3340" "0" "c.3340A>T" "r.(?)" "p.(Asn1114Tyr)" "" "0000343648" "00000234" "30" "6352" "0" "6352" "0" "c.6352A>G" "r.(?)" "p.(Asn2118Asp)" "" "0000343649" "00000234" "30" "6353" "0" "6353" "0" "c.6353A>G" "r.(?)" "p.(Asn2118Ser)" "" "0000343722" "00000234" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asn349Ser)" "" "0000343940" "00000234" "90" "4787" "0" "4787" "0" "c.4787A>G" "r.(?)" "p.(Asp1596Gly)" "" "0000343963" "00000234" "90" "5436" "0" "5436" "0" "c.5436C>A" "r.(?)" "p.(Asp1812Glu)" "" "0000343971" "00000234" "30" "5633" "0" "5633" "0" "c.5633A>G" "r.(?)" "p.(Asp1878Gly)" "" "0000344022" "00000234" "90" "7727" "0" "7727" "0" "c.7727A>G" "r.(?)" "p.(Asp2576Gly)" "" "0000344234" "00000234" "70" "3301" "0" "3301" "0" "c.3301T>C" "r.(?)" "p.(Cys1101Arg)" "" "0000344235" "00000234" "70" "3302" "0" "3302" "0" "c.3302G>T" "r.(?)" "p.(Cys1101Phe)" "" "0000344236" "00000234" "70" "3302" "0" "3302" "0" "c.3302G>A" "r.(?)" "p.(Cys1101Tyr)" "" "0000344519" "00000234" "70" "3641" "0" "3641" "0" "c.3641A>G" "r.(?)" "p.(Gln1214Arg)" "" "0000344521" "00000234" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Gln122Ter)" "" "0000344550" "00000234" "70" "4184" "0" "4184" "0" "c.4184A>G" "r.(?)" "p.(Gln1395Arg)" "" "0000344614" "00000234" "90" "5497" "0" "5497" "0" "c.5497C>T" "r.(?)" "p.(Gln1833Ter)" "" "0000344641" "00000234" "90" "604" "0" "604" "0" "c.604C>T" "r.(?)" "p.(Gln202Ter)" "" "0000344689" "00000234" "90" "7276" "0" "7276" "0" "c.7276C>T" "r.(?)" "p.(Gln2426Ter)" "" "0000344691" "00000234" "90" "7312" "0" "7312" "0" "c.7312C>T" "r.(?)" "p.(Gln2438Ter)" "" "0000344697" "00000234" "90" "7441" "0" "7441" "0" "c.7441C>T" "r.(?)" "p.(Gln2481Ter)" "" "0000344802" "00000234" "90" "1135" "0" "1135" "0" "c.1135C>T" "r.(?)" "p.(Gln379Ter)" "" "0000344849" "00000234" "90" "1366" "0" "1366" "0" "c.1366C>T" "r.(?)" "p.(Gln456Ter)" "" "0000344875" "00000234" "90" "1498" "0" "1498" "0" "c.1498C>T" "r.(?)" "p.(Gln500Ter)" "" "0000344880" "00000234" "90" "151" "0" "151" "0" "c.151C>T" "r.(?)" "p.(Gln51Ter)" "" "0000344969" "00000234" "90" "2362" "0" "2362" "0" "c.2362C>T" "r.(?)" "p.(Gln788Ter)" "" "0000344973" "00000234" "90" "2371" "0" "2371" "0" "c.2371C>T" "r.(?)" "p.(Gln791Ter)" "" "0000345182" "00000234" "90" "5170" "0" "5170" "0" "c.5170G>T" "r.(?)" "p.(Glu1724Ter)" "" "0000345299" "00000234" "90" "7723" "0" "7723" "0" "c.7723G>T" "r.(?)" "p.(Glu2575Ter)" "" "0000345314" "00000234" "90" "8089" "0" "8089" "0" "c.8089G>T" "r.(?)" "p.(Glu2697Ter)" "" "0000345594" "00000234" "50" "2788" "0" "2788" "0" "c.2788G>A" "r.(?)" "p.(Glu930Lys)" "" "0000345622" "00000234" "70" "3050" "0" "3050" "0" "c.3050G>A" "r.(?)" "p.(Gly1017Asp)" "" "0000345670" "00000234" "10" "3697" "0" "3697" "0" "c.3697G>A" "r.(?)" "p.(Gly1233Ser)" "" "0000345783" "00000234" "90" "5050" "0" "5050" "0" "c.5050G>A" "r.(?)" "p.(Gly1684Ser)" "" "0000345860" "00000234" "70" "6322" "0" "6322" "0" "c.6322G>A" "r.(?)" "p.(Gly2108Arg)" "" "0000345865" "00000234" "30" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Gly2149Val)" "" "0000345965" "00000234" "50" "8957" "0" "8957" "0" "c.8957G>A" "r.(?)" "p.(Gly2986Glu)" "" "0000346253" "00000234" "10" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Ser)" "" "0000346500" "00000234" "70" "164" "0" "164" "0" "c.164A>G" "r.(?)" "p.(His55Arg)" "" "0000346543" "00000234" "50" "3044" "0" "3044" "0" "c.3044T>C" "r.(?)" "p.(Ile1015Thr)" "" "0000346547" "00000234" "90" "3082" "0" "3082" "0" "c.3082A>G" "r.(?)" "p.(Ile1028Val)" "" "0000346551" "00000234" "70" "3242" "0" "3242" "0" "c.3242T>G" "r.(?)" "p.(Ile1081Ser)" "" "0000346986" "00000234" "50" "6300" "0" "6300" "0" "c.6300G>T" "r.(?)" "p.(Leu2100Phe)" "" "0000347396" "00000234" "70" "3871" "0" "3871" "0" "c.3871A>C" "r.(?)" "p.(Lys1291Gln)" "" "0000347653" "00000234" "10" "2436" "0" "2436" "0" "c.2436A>T" "r.(?)" "p.(Lys812Asn)" "" "0000347670" "00000234" "70" "2720" "0" "2720" "0" "c.2720A>G" "r.(?)" "p.(Lys907Arg)" "" "0000348252" "00000234" "50" "5623" "0" "5623" "0" "c.5623C>G" "r.(?)" "p.(Pro1875Ala)" "" "0000348301" "00000234" "30" "694" "0" "694" "0" "c.694C>A" "r.(?)" "p.(Pro232Thr)" "" "0000348487" "00000234" "30" "1556" "0" "1556" "0" "c.1556C>T" "r.(?)" "p.(Pro519Leu)" "" "0000348568" "00000234" "90" "2194" "0" "2194" "0" "c.2194C>G" "r.(?)" "p.(Pro732Ala)" "" "0000348736" "00000234" "50" "4550" "0" "4550" "0" "c.4550C>T" "r.(?)" "p.(Ser1517Phe)" "" "0000348783" "00000234" "90" "5297" "0" "5297" "0" "c.5297C>G" "r.(?)" "p.(Ser1766Ter)" "" "0000348787" "00000234" "50" "5423" "0" "5423" "0" "c.5423C>T" "r.(?)" "p.(Ser1808Phe)" "" "0000349031" "00000234" "30" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "0000349671" "00000234" "90" "3114" "0" "3114" "0" "c.3114G>A" "r.(?)" "p.(Trp1038Ter)" "" "0000349718" "00000234" "90" "5315" "0" "5315" "0" "c.5315G>A" "r.(?)" "p.(Trp1772Ter)" "" "0000349752" "00000234" "90" "8054" "0" "8054" "0" "c.8054G>A" "r.(?)" "p.(Trp2685Ter)" "" "0000349859" "00000234" "90" "2520" "0" "2520" "0" "c.2520G>A" "r.(?)" "p.(Trp840Ter)" "" "0000349860" "00000234" "90" "2520" "0" "2520" "0" "c.2520G>C" "r.(?)" "p.(Trp840Cys)" "" "0000349908" "00000234" "70" "3973" "0" "3973" "0" "c.3973T>G" "r.(?)" "p.(Tyr1325Asp)" "" "0000349909" "00000234" "90" "3993" "0" "3993" "0" "c.3993C>A" "r.(?)" "p.(Tyr1331Ter)" "" "0000349921" "00000234" "70" "4406" "0" "4406" "0" "c.4406A>G" "r.(?)" "p.(Tyr1469Cys)" "" "0000349949" "00000234" "90" "5181" "0" "5181" "0" "c.5181C>G" "r.(?)" "p.(Tyr1727Ter)" "" "0000349965" "00000234" "90" "5706" "0" "5706" "0" "c.5706C>G" "r.(?)" "p.(Tyr1902Ter)" "" "0000350391" "00000234" "70" "6304" "0" "6304" "0" "c.6304G>A" "r.(?)" "p.(Val2102Ile)" "" "0000350456" "00000234" "30" "8791" "0" "8791" "0" "c.8791G>A" "r.(?)" "p.(Val2931Met)" "" "0000351306" "00000234" "90" "2498" "2" "2498" "2" "c.2498+2T>C" "r.spl?" "p.?" "" "0000351307" "00000234" "90" "4353" "1" "4353" "1" "c.4353+1G>A" "r.spl?" "p.?" "" "0000351308" "00000234" "90" "4851" "-2" "4851" "-2" "c.4851-2A>T" "r.spl?" "p.?" "" "0000351310" "00000234" "90" "6104" "-2" "6104" "-2" "c.6104-2A>C" "r.spl?" "p.?" "" "0000442542" "00000234" "70" "8488" "0" "8488" "0" "c.8488G>A" "r.(?)" "p.(Ala2830Thr)" "" "0000474966" "00000234" "50" "5440" "0" "5440" "0" "c.5440G>A" "r.(?)" "p.(Ala1814Thr)" "" "0000474967" "00000234" "70" "1188" "0" "1188" "0" "c.1188G>T" "r.(?)" "p.(Met396Ile)" "" "0000474968" "00000234" "50" "1354" "0" "1354" "0" "c.1354C>G" "r.(?)" "p.(Pro452Ala)" "" "0000474969" "00000234" "50" "749" "0" "749" "0" "c.749G>A" "r.(?)" "p.(Arg250His)" "" "0000474970" "00000234" "50" "1708" "0" "1708" "0" "c.1708A>G" "r.(?)" "p.(Met570Val)" "" "0000474971" "00000234" "50" "6943" "0" "6943" "0" "c.6943G>A" "r.(?)" "p.(Val2315Ile)" "" "0000474972" "00000234" "50" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Pro783Ser)" "" "0000535042" "00000234" "50" "46" "0" "46" "0" "c.46A>G" "r.(?)" "p.(Ile16Val)" "" "0000535043" "00000234" "10" "216" "0" "216" "0" "c.216T>C" "r.(?)" "p.(Tyr72=)" "" "0000535044" "00000234" "10" "216" "0" "216" "0" "c.216T>C" "r.(?)" "p.(Tyr72=)" "" "0000535045" "00000234" "10" "307" "0" "307" "0" "c.307T>A" "r.(?)" "p.(Ser103Thr)" "" "0000535046" "00000234" "30" "307" "0" "307" "0" "c.307T>A" "r.(?)" "p.(Ser103Thr)" "" "0000535047" "00000234" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Ser103=)" "" "0000535050" "00000234" "50" "500" "0" "500" "0" "c.500C>T" "r.(?)" "p.(Pro167Leu)" "" "0000535051" "00000234" "50" "584" "0" "584" "0" "c.584G>C" "r.(?)" "p.(Arg195Pro)" "" "0000535052" "00000234" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Gly219=)" "" "0000535053" "00000234" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(Pro243=)" "" "0000535054" "00000234" "50" "742" "0" "742" "0" "c.742T>A" "r.(?)" "p.(Ser248Thr)" "" "0000535055" "00000234" "10" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Arg286Gly)" "" "0000535057" "00000234" "50" "946" "0" "946" "0" "c.946A>G" "r.(?)" "p.(Ser316Gly)" "" "0000535058" "00000234" "10" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Met340Val)" "" "0000535059" "00000234" "30" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Met340Val)" "" "0000535060" "00000234" "50" "1100" "0" "1100" "0" "c.1100T>A" "r.(?)" "p.(Ile367Asn)" "" "0000535061" "00000234" "30" "1170" "0" "1170" "0" "c.1170T>C" "r.(?)" "p.(Tyr390=)" "" "0000535062" "00000234" "30" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "0000535063" "00000234" "50" "1643" "0" "1643" "0" "c.1643C>T" "r.(?)" "p.(Pro548Leu)" "" "0000535064" "00000234" "90" "1665" "2" "1665" "2" "c.1665+2T>C" "r.spl?" "p.?" "" "0000535066" "00000234" "10" "1674" "0" "1674" "0" "c.1674G>C" "r.(?)" "p.(Pro558=)" "" "0000535067" "00000234" "30" "1797" "0" "1799" "0" "c.1797_1799del" "r.(?)" "p.(Lys602del)" "" "0000535068" "00000234" "90" "1926" "0" "1929" "0" "c.1926_1929del" "r.(?)" "p.(Lys643ArgfsTer67)" "" "0000535069" "00000234" "30" "1945" "0" "1945" "0" "c.1945G>A" "r.(?)" "p.(Ala649Thr)" "" "0000535070" "00000234" "50" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0000535071" "00000234" "50" "1967" "0" "1967" "0" "c.1967C>G" "r.(?)" "p.(Pro656Arg)" "" "0000535073" "00000234" "30" "2053" "0" "2058" "0" "c.2053_2058dup" "r.(?)" "p.(Ala685_Lys686dup)" "" "0000535074" "00000234" "10" "2053" "0" "2058" "0" "c.2053_2058dup" "r.(?)" "p.(Ala685_Lys686dup)" "" "0000535075" "00000234" "10" "2053" "0" "2058" "0" "c.2053_2058dup" "r.(?)" "p.(Ala685_Lys686dup)" "" "0000535076" "00000234" "10" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Thr689=)" "" "0000535077" "00000234" "10" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(Ser708=)" "" "0000535078" "00000234" "30" "2155" "0" "2155" "0" "c.2155A>G" "r.(?)" "p.(Thr719Ala)" "" "0000535079" "00000234" "30" "2185" "0" "2185" "0" "c.2185A>G" "r.(?)" "p.(Lys729Glu)" "" "0000535080" "00000234" "50" "2185" "0" "2185" "0" "c.2185A>G" "r.(?)" "p.(Lys729Glu)" "" "0000535081" "00000234" "30" "2185" "0" "2185" "0" "c.2185A>G" "r.(?)" "p.(Lys729Glu)" "" "0000535082" "00000234" "90" "2238" "1" "2238" "1" "c.2238+1G>A" "r.spl?" "p.?" "" "0000535085" "00000234" "10" "2376" "43" "2376" "48" "c.2376+43_2376+48dup" "r.(=)" "p.(=)" "" "0000535087" "00000234" "50" "2404" "0" "2404" "0" "c.2404G>A" "r.(?)" "p.(Val802Ile)" "" "0000535089" "00000234" "70" "2546" "0" "2546" "0" "c.2546A>G" "r.(?)" "p.(Asp849Gly)" "" "0000535090" "00000234" "10" "2614" "-14" "2614" "-14" "c.2614-14del" "r.(=)" "p.(=)" "" "0000535091" "00000234" "30" "2680" "0" "2680" "0" "c.2680A>G" "r.(?)" "p.(Thr894Ala)" "" "0000535092" "00000234" "10" "2680" "0" "2680" "0" "c.2680A>G" "r.(?)" "p.(Thr894Ala)" "" "0000535093" "00000234" "10" "2698" "-237" "2698" "-236" "c.2698-237_2698-236del" "r.(=)" "p.(=)" "" "0000535094" "00000234" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Thr917=)" "" "0000535095" "00000234" "30" "2835" "8" "2835" "8" "c.2835+8T>C" "r.(=)" "p.(=)" "" "0000535096" "00000234" "30" "2855" "0" "2855" "0" "c.2855A>T" "r.(?)" "p.(Asp952Val)" "" "0000535097" "00000234" "50" "3023" "0" "3023" "0" "c.3023A>G" "r.(?)" "p.(Tyr1008Cys)" "" "0000535098" "00000234" "90" "3053" "0" "3053" "0" "c.3053C>G" "r.(?)" "p.(Pro1018Arg)" "" "0000535099" "00000234" "90" "3089" "0" "3089" "0" "c.3089A>G" "r.(?)" "p.(Asn1030Ser)" "" "0000535100" "00000234" "50" "3158" "0" "3158" "0" "c.3158G>A" "r.(?)" "p.(Arg1053His)" "" "0000535101" "00000234" "30" "3202" "-5" "3202" "-5" "c.3202-5T>C" "r.spl?" "p.?" "" "0000535102" "00000234" "30" "3216" "0" "3216" "0" "c.3216G>A" "r.(?)" "p.(Lys1072=)" "" "0000535103" "00000234" "90" "3249" "0" "3250" "0" "c.3249_3250dup" "r.(?)" "p.(Phe1084TyrfsTer4)" "" "0000535104" "00000234" "70" "3301" "0" "3301" "0" "c.3301T>C" "r.(?)" "p.(Cys1101Arg)" "" "0000535105" "00000234" "50" "3463" "0" "3463" "0" "c.3463C>G" "r.(?)" "p.(Arg1155Gly)" "" "0000535106" "00000234" "10" "3778" "17" "3778" "17" "c.3778+17C>T" "r.(=)" "p.(=)" "" "0000535107" "00000234" "30" "3778" "17" "3778" "17" "c.3778+17C>T" "r.(=)" "p.(=)" "" "0000535108" "00000234" "70" "3875" "0" "3875" "0" "c.3875T>C" "r.(?)" "p.(Leu1292Pro)" "" "0000535109" "00000234" "50" "3973" "0" "3973" "0" "c.3973T>C" "r.(?)" "p.(Tyr1325His)" "" "0000535110" "00000234" "50" "3979" "0" "3979" "0" "c.3979A>G" "r.(?)" "p.(Ile1327Val)" "" "0000535111" "00000234" "30" "4008" "0" "4008" "0" "c.4008C>T" "r.(?)" "p.(Ile1336=)" "" "0000535112" "00000234" "50" "4109" "0" "4111" "0" "c.4109_4111del" "r.(?)" "p.(Gly1370_Leu1371delinsVal)" "" "0000535113" "00000234" "50" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Val1452Ile)" "" "0000535114" "00000234" "70" "4406" "0" "4406" "0" "c.4406A>G" "r.(?)" "p.(Tyr1469Cys)" "" "0000535115" "00000234" "10" "4534" "-13" "4534" "-13" "c.4534-13T>G" "r.(=)" "p.(=)" "" "0000535116" "00000234" "50" "4644" "9" "4644" "10" "c.4644+9_4644+10insTTG" "r.(=)" "p.(=)" "" "0000535117" "00000234" "30" "4720" "0" "4720" "0" "c.4720A>T" "r.(?)" "p.(Met1574Leu)" "" "0000535118" "00000234" "90" "4723" "0" "4723" "0" "c.4723dup" "r.(?)" "p.(Glu1575GlyfsTer8)" "" "0000535119" "00000234" "30" "4847" "0" "4847" "0" "c.4847A>G" "r.(?)" "p.(Tyr1616Cys)" "" "0000535120" "00000234" "30" "4847" "0" "4847" "0" "c.4847A>G" "r.(?)" "p.(Tyr1616Cys)" "" "0000535121" "00000234" "30" "4850" "6" "4850" "6" "c.4850+6T>A" "r.(=)" "p.(=)" "" "0000535122" "00000234" "50" "4885" "0" "4885" "0" "c.4885C>T" "r.(?)" "p.(Arg1629Cys)" "" "0000535123" "00000234" "10" "5051" "-4" "5051" "-4" "c.5051-4C>T" "r.spl?" "p.?" "" "0000535124" "00000234" "90" "5157" "0" "5157" "0" "c.5157del" "r.(?)" "p.(Asp1719GlufsTer13)" "" "0000535125" "00000234" "50" "5175" "0" "5175" "0" "c.5175C>G" "r.(?)" "p.(Asp1725Glu)" "" "0000535126" "00000234" "30" "5301" "-13" "5301" "-13" "c.5301-13T>C" "r.(=)" "p.(=)" "" "0000535127" "00000234" "90" "5301" "-1" "5301" "-1" "c.5301-1G>A" "r.spl?" "p.?" "" "0000535128" "00000234" "10" "5310" "0" "5310" "0" "c.5310T>C" "r.(?)" "p.(Asp1770=)" "" "0000535129" "00000234" "30" "5310" "0" "5310" "0" "c.5310T>C" "r.(?)" "p.(Asp1770=)" "" "0000535130" "00000234" "50" "5387" "0" "5387" "0" "c.5387T>C" "r.(?)" "p.(Ile1796Thr)" "" "0000535131" "00000234" "10" "5405" "-13" "5405" "-13" "c.5405-13G>T" "r.(=)" "p.(=)" "" "0000535132" "00000234" "90" "5548" "0" "5548" "0" "c.5548dup" "r.(?)" "p.(Arg1850LysfsTer4)" "" "0000535133" "00000234" "30" "5697" "0" "5697" "0" "c.5697C>G" "r.(?)" "p.(Gly1899=)" "" "0000535134" "00000234" "30" "5745" "0" "5745" "0" "c.5745G>A" "r.(?)" "p.(Arg1915=)" "" "0000535135" "00000234" "30" "5764" "0" "5764" "0" "c.5764C>T" "r.(?)" "p.(Arg1922Cys)" "" "0000535136" "00000234" "50" "5845" "0" "5845" "0" "c.5845A>G" "r.(?)" "p.(Arg1949Gly)" "" "0000535137" "00000234" "70" "5914" "0" "5914" "0" "c.5914G>C" "r.(?)" "p.(Ala1972Pro)" "" "0000535138" "00000234" "70" "6032" "0" "6032" "0" "c.6032T>G" "r.(?)" "p.(Leu2011Trp)" "" "0000535139" "00000234" "90" "6070" "0" "6070" "0" "c.6070C>T" "r.(?)" "p.(Arg2024Ter)" "" "0000535140" "00000234" "10" "6103" "8" "6103" "8" "c.6103+8C>T" "r.(=)" "p.(=)" "" "0000535141" "00000234" "30" "6107" "0" "6107" "0" "c.6107C>T" "r.(?)" "p.(Pro2036Leu)" "" "0000535142" "00000234" "10" "6111" "0" "6111" "0" "c.6111C>T" "r.(?)" "p.(Pro2037=)" "" "0000535143" "00000234" "10" "6135" "0" "6135" "0" "c.6135G>A" "r.(?)" "p.(Pro2045=)" "" "0000535144" "00000234" "90" "6135" "0" "6138" "0" "c.6135_6138dup" "r.(?)" "p.(Thr2047AspfsTer14)" "" "0000535145" "00000234" "10" "6276" "0" "6276" "0" "c.6276G>A" "r.(?)" "p.(Glu2092=)" "" "0000535146" "00000234" "10" "6282" "0" "6282" "0" "c.6282A>G" "r.(?)" "p.(Gly2094=)" "" "0000535147" "00000234" "30" "6392" "0" "6392" "0" "c.6392T>G" "r.(?)" "p.(Phe2131Cys)" "" "0000535149" "00000234" "30" "6653" "0" "6653" "0" "c.6653T>C" "r.(?)" "p.(Leu2218Pro)" "" "0000535150" "00000234" "30" "6711" "0" "6711" "0" "c.6711C>T" "r.(?)" "p.(Ser2237=)" "" "0000535151" "00000234" "30" "6775" "6" "6775" "6" "c.6775+6G>T" "r.(=)" "p.(=)" "" "0000535152" "00000234" "50" "7014" "0" "7028" "0" "c.7014_7028dup" "r.(?)" "p.(Met2339_Gln2343dup)" "" "0000535154" "00000234" "50" "7107" "0" "7107" "0" "c.7107C>A" "r.(?)" "p.(Val2369=)" "" "0000535155" "00000234" "30" "7278" "0" "7278" "0" "c.7278G>A" "r.(?)" "p.(Gln2426=)" "" "0000535156" "00000234" "90" "7282" "0" "7282" "0" "c.7282C>T" "r.(?)" "p.(Arg2428Ter)" "" "0000535157" "00000234" "50" "7310" "0" "7310" "0" "c.7310G>T" "r.(?)" "p.(Gly2437Val)" "" "0000535158" "00000234" "50" "7353" "0" "7353" "0" "c.7353A>G" "r.(?)" "p.(Ala2451=)" "" "0000535159" "00000234" "10" "7356" "0" "7356" "0" "c.7356A>G" "r.(?)" "p.(Thr2452=)" "" "0000535161" "00000234" "90" "7451" "0" "7451" "0" "c.7451dup" "r.(?)" "p.(Leu2485AlafsTer15)" "" "0000535162" "00000234" "30" "7579" "0" "7579" "0" "c.7579A>C" "r.(?)" "p.(Met2527Leu)" "" "0000535163" "00000234" "30" "7672" "0" "7672" "0" "c.7672C>T" "r.(?)" "p.(Pro2558Ser)" "" "0000535165" "00000234" "10" "7683" "0" "7683" "0" "c.7683A>G" "r.(?)" "p.(Gly2561=)" "" "0000535166" "00000234" "30" "7831" "-3" "7831" "-3" "c.7831-3C>T" "r.spl?" "p.?" "" "0000535167" "00000234" "50" "7880" "0" "7880" "0" "c.7880G>A" "r.(?)" "p.(Arg2627Gln)" "" "0000535168" "00000234" "50" "8104" "0" "8104" "0" "c.8104C>T" "r.(?)" "p.(Arg2702Cys)" "" "0000535169" "00000234" "30" "8105" "0" "8105" "0" "c.8105G>A" "r.(?)" "p.(Arg2702His)" "" "0000535170" "00000234" "30" "8141" "0" "8141" "0" "c.8141C>T" "r.(?)" "p.(Ala2714Val)" "" "0000535171" "00000234" "30" "8141" "0" "8141" "0" "c.8141C>T" "r.(?)" "p.(Ala2714Val)" "" "0000535172" "00000234" "30" "8250" "0" "8250" "0" "c.8250T>G" "r.(?)" "p.(Phe2750Leu)" "" "0000535173" "00000234" "30" "8366" "0" "8366" "0" "c.8366C>T" "r.(?)" "p.(Ala2789Val)" "" "0000535174" "00000234" "30" "8416" "0" "8416" "0" "c.8416C>G" "r.(?)" "p.(Leu2806Val)" "" "0000535175" "00000234" "30" "8416" "0" "8416" "0" "c.8416C>G" "r.(?)" "p.(Leu2806Val)" "" "0000535176" "00000234" "10" "8439" "0" "8439" "0" "c.8439C>T" "r.(?)" "p.(Gly2813=)" "" "0000535177" "00000234" "30" "8477" "0" "8477" "0" "c.8477A>G" "r.(?)" "p.(Asn2826Ser)" "" "0000535178" "00000234" "30" "8790" "0" "8790" "0" "c.8790C>T" "r.(?)" "p.(Ala2930=)" "" "0000535179" "00000234" "10" "8950" "0" "8950" "0" "c.8950C>T" "r.(?)" "p.(Leu2984Phe)" "" "0000535180" "00000234" "30" "8950" "0" "8950" "0" "c.8950C>T" "r.(?)" "p.(Leu2984Phe)" "" "0000601056" "00000234" "70" "5050" "2" "5050" "2" "c.5050+2T>G" "r.spl" "p.?" "22i" "0000611660" "00000234" "50" "103" "0" "103" "0" "c.103A>C" "r.(?)" "p.(Asn35His)" "" "0000611661" "00000234" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Thr93Ala)" "" "0000611662" "00000234" "30" "1410" "0" "1410" "0" "c.1410A>G" "r.(?)" "p.(Glu470=)" "" "0000611663" "00000234" "30" "1502" "0" "1502" "0" "c.1502A>G" "r.(?)" "p.(His501Arg)" "" "0000611664" "00000234" "10" "1536" "0" "1536" "0" "c.1536A>G" "r.(?)" "p.(Pro512=)" "" "0000611665" "00000234" "50" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(His605Asp)" "" "0000611666" "00000234" "50" "1910" "0" "1910" "0" "c.1910C>G" "r.(?)" "p.(Ser637Cys)" "" "0000611667" "00000234" "70" "2498" "5" "2498" "5" "c.2498+5G>A" "r.spl?" "p.?" "" "0000611668" "00000234" "70" "2498" "9" "2498" "9" "c.2498+9del" "r.(=)" "p.(=)" "" "0000611669" "00000234" "30" "3051" "0" "3051" "0" "c.3051C>A" "r.(?)" "p.(Gly1017=)" "" "0000611670" "00000234" "50" "3565" "0" "3565" "0" "c.3565C>A" "r.(?)" "p.(Arg1189Ser)" "" "0000611671" "00000234" "50" "3973" "0" "3973" "0" "c.3973T>C" "r.(?)" "p.(Tyr1325His)" "" "0000611672" "00000234" "30" "4317" "0" "4317" "0" "c.4317A>G" "r.(?)" "p.(Leu1439=)" "" "0000611673" "00000234" "30" "4794" "0" "4794" "0" "c.4794A>G" "r.(?)" "p.(Ser1598=)" "" "0000611674" "00000234" "50" "5114" "0" "5114" "0" "c.5114C>T" "r.(?)" "p.(Pro1705Leu)" "" "0000611675" "00000234" "70" "5389" "0" "5389" "0" "c.5389G>A" "r.(?)" "p.(Gly1797Arg)" "" "0000611676" "00000234" "30" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Ala1950Thr)" "" "0000611678" "00000234" "10" "6123" "0" "6123" "0" "c.6123C>T" "r.(?)" "p.(Ser2041=)" "" "0000611679" "00000234" "50" "6455" "0" "6455" "0" "c.6455A>G" "r.(?)" "p.(Gln2152Arg)" "" "0000611680" "00000234" "50" "6476" "0" "6476" "0" "c.6476C>G" "r.(?)" "p.(Ser2159Cys)" "" "0000611681" "00000234" "30" "6864" "0" "6864" "0" "c.6864C>T" "r.(?)" "p.(Tyr2288=)" "" "0000611683" "00000234" "50" "7097" "0" "7097" "0" "c.7097T>G" "r.(?)" "p.(Leu2366Arg)" "" "0000611684" "00000234" "30" "7356" "0" "7356" "0" "c.7356A>G" "r.(?)" "p.(Thr2452=)" "" "0000611685" "00000234" "30" "7579" "0" "7579" "0" "c.7579A>C" "r.(?)" "p.(Met2527Leu)" "" "0000611687" "00000234" "10" "8190" "0" "8190" "0" "c.8190G>A" "r.(?)" "p.(Ala2730=)" "" "0000611688" "00000234" "30" "8307" "0" "8307" "0" "c.8307G>A" "r.(?)" "p.(Leu2769=)" "" "0000611689" "00000234" "30" "8322" "0" "8322" "0" "c.8322C>G" "r.(?)" "p.(Gly2774=)" "" "0000611690" "00000234" "50" "8362" "0" "8362" "0" "c.8362G>A" "r.(?)" "p.(Asp2788Asn)" "" "0000611691" "00000234" "30" "8556" "0" "8556" "0" "c.8556C>T" "r.(?)" "p.(Asp2852=)" "" "0000622079" "00000234" "50" "2209" "0" "2211" "0" "c.2209_2211del" "r.(?)" "p.(Pro737del)" "" "0000622080" "00000234" "50" "3299" "0" "3299" "0" "c.3299G>A" "r.(?)" "p.(Arg1100His)" "" "0000622081" "00000234" "30" "7173" "0" "7173" "0" "c.7173C>T" "r.(?)" "p.(Ala2391=)" "" "0000622082" "00000234" "30" "7221" "0" "7221" "0" "c.7221C>A" "r.(?)" "p.(Ile2407=)" "" "0000622083" "00000234" "30" "7551" "0" "7551" "0" "c.7551A>G" "r.(?)" "p.(Lys2517=)" "" "0000652507" "00000234" "30" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000652508" "00000234" "90" "4915" "0" "4915" "0" "c.4915del" "r.(?)" "p.(Val1639*)" "" "0000652509" "00000234" "10" "6103" "8" "6103" "8" "c.6103+8C>T" "r.(=)" "p.(=)" "" "0000652510" "00000234" "30" "8416" "0" "8416" "0" "c.8416C>G" "r.(?)" "p.(Leu2806Val)" "" "0000653182" "00000234" "30" "5051" "-4" "5051" "-4" "c.5051-4C>T" "r.spl?" "p.?" "" "0000653305" "00000234" "90" "4634" "0" "4634" "0" "c.4634del" "r.(?)" "p.(Leu1545*)" "" "0000656125" "00000234" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Thr93Ala)" "" "0000656126" "00000234" "50" "375" "0" "375" "0" "c.375C>G" "r.(?)" "p.(Val125=)" "" "0000656127" "00000234" "30" "2067" "0" "2067" "0" "c.2067G>A" "r.(?)" "p.(Thr689=)" "" "0000656128" "00000234" "30" "2355" "0" "2355" "0" "c.2355C>T" "r.(?)" "p.(Asn785=)" "" "0000656129" "00000234" "30" "2751" "0" "2751" "0" "c.2751G>A" "r.(?)" "p.(Thr917=)" "" "0000656130" "00000234" "50" "3098" "0" "3098" "0" "c.3098G>A" "r.(?)" "p.(Arg1033Lys)" "" "0000656131" "00000234" "30" "4850" "19" "4850" "19" "c.4850+19G>A" "r.(=)" "p.(=)" "" "0000656132" "00000234" "30" "5496" "0" "5496" "0" "c.5496G>A" "r.(?)" "p.(Glu1832=)" "" "0000656133" "00000234" "50" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Ala1950Thr)" "" "0000656134" "00000234" "30" "6216" "0" "6216" "0" "c.6216C>G" "r.(?)" "p.(Pro2072=)" "" "0000656135" "00000234" "30" "6285" "0" "6285" "0" "c.6285G>T" "r.(?)" "p.(Arg2095=)" "" "0000656136" "00000234" "90" "6292" "0" "6292" "0" "c.6292C>T" "r.(?)" "p.(Arg2098Ter)" "" "0000656137" "00000234" "10" "6660" "0" "6660" "0" "c.6660T>G" "r.(?)" "p.(Gly2220=)" "" "0000656138" "00000234" "30" "6822" "0" "6822" "0" "c.6822T>C" "r.(?)" "p.(Ala2274=)" "" "0000656139" "00000234" "30" "8355" "0" "8355" "0" "c.8355C>T" "r.(?)" "p.(Ala2785=)" "" "0000667191" "00000234" "90" "7879" "0" "7879" "0" "c.7879C>T" "r.(?)" "p.(Arg2627*)" "" "0000667502" "00000234" "90" "5167" "0" "5167" "0" "c.5167dup" "r.(?)" "p.(Gln1723Profs*14)" "" "0000668271" "00000234" "70" "3101" "0" "3135" "0" "c.3101_3135dup" "r.(?)" "p.(Tyr1046Asnfs*8)" "12" "0000668272" "00000234" "70" "4850" "0" "4850" "0" "c.4850G>T" "r.(?)" "p.(Gly1617Val)" "21" "0000668273" "00000234" "70" "4969" "0" "4969" "0" "c.4969del" "r.(?)" "p.(Asp1657Metfs*11)" "22" "0000668274" "00000234" "70" "3201" "3" "3201" "8" "c.3201+3_3201+8del" "r.(spl?)" "p.?" "" "0000668944" "00000234" "70" "755" "0" "755" "0" "c.755C>A" "r.(?)" "p.(Ser252*)" "2" "0000668945" "00000234" "70" "534" "0" "534" "0" "c.534del" "r.(?)" "p.(Ala179Hisfs*32)" "2" "0000668946" "00000234" "70" "3389" "0" "3392" "0" "c.3389_3392dup" "r.(?)" "p.(Leu1132Alafs*38)" "14" "0000670017" "00000234" "10" "6103" "8" "6103" "8" "c.6103+8C>T" "r.(=)" "p.(=)" "" "0000673955" "00000234" "90" "6292" "0" "6292" "0" "c.6292C>T" "r.(?)" "p.(Arg2098*)" "" "0000674007" "00000234" "90" "8081" "0" "8082" "0" "c.8081_8082dup" "r.(?)" "p.(Val2695Leufs*15)" "" "0000678409" "00000234" "50" "17" "0" "17" "0" "c.17T>C" "r.(?)" "p.(Met6Thr)" "" "0000678410" "00000234" "30" "608" "0" "608" "0" "c.608A>G" "r.(?)" "p.(His203Arg)" "" "0000678411" "00000234" "30" "2096" "21" "2096" "21" "c.2096+21dup" "r.(=)" "p.(=)" "" "0000678412" "00000234" "70" "4195" "0" "4195" "0" "c.4195A>G" "r.(?)" "p.(Arg1399Gly)" "" "0000678413" "00000234" "90" "4353" "1" "4353" "1" "c.4353+1G>A" "r.spl?" "p.?" "" "0000678414" "00000234" "30" "5130" "0" "5130" "0" "c.5130C>T" "r.(?)" "p.(Ala1710=)" "" "0000683301" "00000234" "70" "2442" "1" "2442" "1" "c.2442+1G>T" "r.spl" "p.?" "" "0000683302" "00000234" "70" "5665" "1" "5665" "1" "c.5665+1G>T" "r.spl" "p.?" "" "0000683365" "00000234" "70" "5588" "0" "5588" "0" "c.5588C>T" "r.(?)" "p.(Pro1863Leu)" "" "0000690290" "00000234" "30" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Ile43Val)" "" "0000690291" "00000234" "10" "306" "0" "306" "0" "c.306C>T" "r.(?)" "p.(His102=)" "" "0000690292" "00000234" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Ser103=)" "" "0000690293" "00000234" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Gly219=)" "" "0000690294" "00000234" "10" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Ser)" "" "0000690295" "00000234" "30" "2307" "0" "2307" "0" "c.2307T>C" "r.(?)" "p.(Asp769=)" "" "0000690296" "00000234" "30" "2377" "-3" "2377" "-3" "c.2377-3T>A" "r.spl?" "p.?" "" "0000690297" "00000234" "90" "2614" "-1" "2614" "-1" "c.2614-1G>A" "r.spl?" "p.?" "" "0000690298" "00000234" "30" "2867" "0" "2867" "0" "c.2867C>T" "r.(?)" "p.(Ser956Leu)" "" "0000690299" "00000234" "50" "2872" "0" "2872" "0" "c.2872A>C" "r.(?)" "p.(Ser958Arg)" "" "0000690300" "00000234" "70" "3745" "0" "3745" "0" "c.3745C>T" "r.(?)" "p.(Arg1249Trp)" "" "0000690301" "00000234" "90" "3797" "0" "3797" "0" "c.3797del" "r.(?)" "p.(Leu1266TrpfsTer20)" "" "0000690302" "00000234" "70" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Val1452Ile)" "" "0000690303" "00000234" "30" "4644" "14" "4644" "14" "c.4644+14C>T" "r.(=)" "p.(=)" "" "0000690304" "00000234" "10" "5307" "0" "5307" "0" "c.5307C>T" "r.(?)" "p.(Ala1769=)" "" "0000690305" "00000234" "70" "6178" "0" "6178" "0" "c.6178C>G" "r.(?)" "p.(Leu2060Val)" "" "0000690306" "00000234" "10" "6478" "0" "6478" "0" "c.6478G>A" "r.(?)" "p.(Ala2160Thr)" "" "0000690307" "00000234" "10" "6513" "0" "6513" "0" "c.6513C>T" "r.(?)" "p.(Ala2171=)" "" "0000690308" "00000234" "30" "6513" "0" "6513" "0" "c.6513C>T" "r.(?)" "p.(Ala2171=)" "" "0000690309" "00000234" "50" "6923" "0" "6923" "0" "c.6923C>T" "r.(?)" "p.(Ser2308Leu)" "" "0000690310" "00000234" "70" "6936" "0" "6936" "0" "c.6936G>A" "r.(?)" "p.(Lys2312=)" "" "0000690311" "00000234" "10" "7590" "0" "7590" "0" "c.7590A>G" "r.(?)" "p.(Lys2530=)" "" "0000690312" "00000234" "30" "8718" "0" "8718" "0" "c.8718C>T" "r.(?)" "p.(Ser2906=)" "" "0000698362" "00000234" "50" "5426" "0" "5426" "0" "c.5426T>C" "r.(?)" "p.(Met1809Thr)" "26" "0000698368" "00000234" "50" "3613" "0" "3613" "0" "c.3613A>G" "r.(?)" "p.(Ile1205Val)" "15" "0000699818" "00000234" "90" "5050" "0" "5050" "0" "c.5050G>A" "r.(?)" "p.(Gly1684Ser)" "" "0000708488" "00000234" "90" "2239" "-20" "2239" "-6" "c.2239-20_2239-6del" "r.2238_2239ins[2239-336_2239-21;uuuag]" "p.Gln746_Lys747ins*63" "" "0000714146" "00000234" "30" "2376" "43" "2376" "48" "c.2376+43_2376+48dup" "r.(?)" "p.(=)" "" "0000722038" "00000234" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Thr93Ala)" "" "0000722039" "00000234" "50" "904" "0" "904" "0" "c.904C>T" "r.(?)" "p.(Pro302Ser)" "" "0000722040" "00000234" "10" "1170" "0" "1170" "0" "c.1170T>C" "r.(?)" "p.(Tyr390=)" "" "0000722041" "00000234" "30" "1170" "0" "1170" "0" "c.1170T>C" "r.(?)" "p.(Tyr390=)" "" "0000722042" "00000234" "50" "1696" "0" "1696" "0" "c.1696C>G" "r.(?)" "p.(Pro566Ala)" "" "0000722043" "00000234" "50" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(His605Asp)" "" "0000722044" "00000234" "30" "2053" "0" "2058" "0" "c.2053_2058dup" "r.(?)" "p.(Ala685_Lys686dup)" "" "0000722045" "00000234" "50" "2245" "0" "2245" "0" "c.2245C>T" "r.(?)" "p.(Arg749Trp)" "" "0000722046" "00000234" "90" "2337" "0" "2337" "0" "c.2337del" "r.(?)" "p.(Arg780GlyfsTer23)" "" "0000722047" "00000234" "30" "2436" "0" "2436" "0" "c.2436A>T" "r.(?)" "p.(Lys812Asn)" "" "0000722048" "00000234" "50" "2788" "0" "2788" "0" "c.2788G>A" "r.(?)" "p.(Glu930Lys)" "" "0000722049" "00000234" "90" "2915" "0" "2915" "0" "c.2915A>G" "r.(?)" "p.(Gln972Arg)" "" "0000722050" "00000234" "30" "4008" "0" "4008" "0" "c.4008C>T" "r.(?)" "p.(Ile1336=)" "" "0000722051" "00000234" "70" "4669" "0" "4669" "0" "c.4669A>G" "r.(?)" "p.(Arg1557Gly)" "" "0000722052" "00000234" "50" "5864" "0" "5864" "0" "c.5864G>A" "r.(?)" "p.(Arg1955Lys)" "" "0000722053" "00000234" "30" "6093" "0" "6093" "0" "c.6093G>A" "r.(?)" "p.(Lys2031=)" "" "0000722054" "00000234" "30" "6104" "-5" "6104" "-5" "c.6104-5T>C" "r.spl?" "p.?" "" "0000722055" "00000234" "30" "6123" "0" "6123" "0" "c.6123C>T" "r.(?)" "p.(Ser2041=)" "" "0000722056" "00000234" "30" "6999" "0" "6999" "0" "c.6999A>G" "r.(?)" "p.(Pro2333=)" "" "0000722057" "00000234" "90" "7012" "0" "7012" "0" "c.7012C>T" "r.(?)" "p.(Gln2338*)" "" "0000722058" "00000234" "50" "7108" "0" "7108" "0" "c.7108G>C" "r.(?)" "p.(Gly2370Arg)" "" "0000722059" "00000234" "50" "7283" "0" "7283" "0" "c.7283G>A" "r.(?)" "p.(Arg2428Gln)" "" "0000722060" "00000234" "90" "7891" "0" "7891" "0" "c.7891C>T" "r.(?)" "p.(Arg2631Ter)" "" "0000722061" "00000234" "90" "8015" "0" "8015" "0" "c.8015G>A" "r.(?)" "p.(Trp2672*)" "" "0000722062" "00000234" "50" "8359" "0" "8359" "0" "c.8359G>A" "r.(?)" "p.(Gly2787Ser)" "" "0000722063" "00000234" "30" "8366" "0" "8366" "0" "c.8366C>T" "r.(?)" "p.(Ala2789Val)" "" "0000722064" "00000234" "50" "8477" "0" "8477" "0" "c.8477A>G" "r.(?)" "p.(Asn2826Ser)" "" "0000722065" "00000234" "50" "8869" "0" "8869" "0" "c.8869G>A" "r.(?)" "p.(Asp2957Asn)" "" "0000722066" "00000234" "50" "8935" "0" "8935" "0" "c.8935G>T" "r.(?)" "p.(Glu2979*)" "" "0000733971" "00000234" "50" "2831" "0" "2831" "0" "c.2831G>A" "r.(?)" "p.(Arg944His)" "" "0000733989" "00000234" "50" "2831" "0" "2831" "0" "c.2831G>A" "r.(?)" "p.(Arg944His)" "" "0000734017" "00000234" "50" "62" "0" "62" "0" "c.62T>C" "r.(?)" "p.(Leu21Pro)" "" "0000734034" "00000234" "50" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Pro783Ser)" "" "0000734072" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000734173" "00000234" "50" "548" "0" "548" "0" "c.548C>T" "r.(?)" "p.(Pro183Leu)" "" "0000734238" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000734310" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000734319" "00000234" "50" "8093" "0" "8093" "0" "c.8093C>T" "r.(?)" "p.(Ser2698Leu)" "" "0000734325" "00000234" "50" "2758" "0" "2758" "0" "c.2758C>T" "r.(?)" "p.(Arg920Trp)" "" "0000734435" "00000234" "50" "2758" "0" "2758" "0" "c.2758C>T" "r.(?)" "p.(Arg920Trp)" "" "0000734461" "00000234" "50" "7170" "0" "7170" "0" "c.7170T>G" "r.(?)" "p.(Asp2390Glu)" "" "0000734470" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000734982" "00000234" "50" "3446" "0" "3446" "0" "c.3446A>G" "r.(?)" "p.(His1149Arg)" "" "0000734997" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000735016" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000735061" "00000234" "50" "2298" "0" "2298" "0" "c.2298G>T" "r.(?)" "p.(Lys766Asn)" "" "0000735072" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000735236" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000735273" "00000234" "50" "2399" "0" "2399" "0" "c.2399C>T" "r.(?)" "p.(Pro800Leu)" "" "0000735469" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000735475" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000735487" "00000234" "50" "3218" "0" "3218" "0" "c.3218G>A" "r.(?)" "p.(Gly1073Glu)" "" "0000735545" "00000234" "50" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000783985" "00000234" "50" "860" "0" "860" "0" "c.860C>T" "r.(?)" "p.(Pro287Leu)" "" "0000786791" "00000234" "90" "1611" "0" "1611" "0" "c.1611G>A" "r.(?)" "p.(Trp537Ter)" "2" "0000786792" "00000234" "70" "4756" "0" "4757" "0" "c.4756_4757del" "r.(?)" "p.(Lys1586AlafsTer11)" "21" "0000787234" "00000234" "50" "3295" "0" "3295" "0" "c.3295T>C" "r.(?)" "p.(Trp1099Arg)" "13" "0000791102" "00000234" "50" "4478" "0" "4478" "0" "c.4478G>A" "r.(?)" "p.(Arg1493His)" "" "0000803691" "00000234" "30" "277" "0" "277" "0" "c.277A>G" "r.(?)" "p.(Thr93Ala)" "" "0000803692" "00000234" "50" "302" "0" "302" "0" "c.302C>T" "r.(?)" "p.(Pro101Leu)" "" "0000803693" "00000234" "90" "469" "0" "469" "0" "c.469C>T" "r.(?)" "p.(Arg157*)" "" "0000803694" "00000234" "30" "510" "0" "510" "0" "c.510G>A" "r.(?)" "p.(Pro170=)" "" "0000803695" "00000234" "50" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.(Gln254Glu)" "" "0000803696" "00000234" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Cys)" "" "0000803697" "00000234" "30" "1423" "0" "1423" "0" "c.1423A>T" "r.(?)" "p.(Met475Leu)" "" "0000803698" "00000234" "50" "1724" "0" "1724" "0" "c.1724G>C" "r.(?)" "p.(Gly575Ala)" "" "0000803699" "00000234" "30" "2182" "0" "2182" "0" "c.2182G>C" "r.(?)" "p.(Asp728His)" "" "0000803700" "00000234" "30" "3051" "0" "3051" "0" "c.3051C>A" "r.(?)" "p.(Gly1017=)" "" "0000803701" "00000234" "70" "4185" "2" "4185" "2" "c.4185+2dup" "r.spl?" "p.?" "" "0000803703" "00000234" "50" "4877" "0" "4877" "0" "c.4877C>T" "r.(?)" "p.(Ser1626Phe)" "" "0000803704" "00000234" "30" "4881" "0" "4881" "0" "c.4881C>T" "r.(?)" "p.(His1627=)" "" "0000803705" "00000234" "50" "5429" "0" "5429" "0" "c.5429G>A" "r.(?)" "p.(Arg1810Gln)" "" "0000803706" "00000234" "30" "5689" "0" "5689" "0" "c.5689G>A" "r.(?)" "p.(Glu1897Lys)" "" "0000803707" "00000234" "30" "5757" "0" "5757" "0" "c.5757C>G" "r.(?)" "p.(Ala1919=)" "" "0000803708" "00000234" "70" "6103" "5" "6103" "5" "c.6103+5G>A" "r.spl?" "p.?" "" "0000803709" "00000234" "90" "6148" "0" "6148" "0" "c.6148C>T" "r.(?)" "p.(Arg2050*)" "" "0000803710" "00000234" "30" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Gly2149Val)" "" "0000803711" "00000234" "10" "6738" "0" "6738" "0" "c.6738G>A" "r.(?)" "p.(Glu2246=)" "" "0000803712" "00000234" "30" "6775" "0" "6775" "0" "c.6775G>A" "r.(?)" "p.(Ala2259Thr)" "" "0000803713" "00000234" "30" "7082" "0" "7082" "0" "c.7082G>A" "r.(?)" "p.(Arg2361Lys)" "" "0000803714" "00000234" "50" "7537" "0" "7537" "0" "c.7537C>T" "r.(?)" "p.(Arg2513Trp)" "" "0000803715" "00000234" "50" "7591" "0" "7591" "0" "c.7591C>T" "r.(?)" "p.(Arg2531Trp)" "" "0000803716" "00000234" "50" "7693" "0" "7693" "0" "c.7693C>G" "r.(?)" "p.(Pro2565Ala)" "" "0000803717" "00000234" "90" "7957" "0" "7957" "0" "c.7957C>T" "r.(?)" "p.(Arg2653*)" "" "0000823612" "00000234" "70" "844" "0" "844" "0" "c.844C>T" "r.(?)" "p.(Gln282*)" "" "0000838396" "00000234" "70" "7192" "0" "7192" "0" "c.7192C>G" "r.(?)" "p.(Arg2398Gly)" "" "0000851964" "00000234" "30" "213" "0" "213" "0" "c.213C>T" "r.(?)" "p.(His71=)" "" "0000851965" "00000234" "30" "405" "0" "405" "0" "c.405G>A" "r.(?)" "p.(Gly135=)" "" "0000851966" "00000234" "10" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Arg286Gly)" "" "0000851967" "00000234" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asn349Ser)" "" "0000851968" "00000234" "30" "2787" "0" "2787" "0" "c.2787C>T" "r.(?)" "p.(Ile929=)" "" "0000851969" "00000234" "30" "3613" "0" "3613" "0" "c.3613A>G" "r.(?)" "p.(Ile1205Val)" "" "0000851970" "00000234" "30" "3697" "0" "3697" "0" "c.3697G>A" "r.(?)" "p.(Gly1233Ser)" "" "0000851971" "00000234" "30" "4275" "0" "4275" "0" "c.4275C>T" "r.(?)" "p.(Phe1425=)" "" "0000851972" "00000234" "30" "5049" "0" "5049" "0" "c.5049C>T" "r.(?)" "p.(Ser1683=)" "" "0000851973" "00000234" "30" "6103" "6" "6103" "6" "c.6103+6T>C" "r.(=)" "p.(=)" "" "0000851974" "00000234" "30" "6401" "0" "6401" "0" "c.6401A>G" "r.(?)" "p.(Asn2134Ser)" "" "0000851975" "00000234" "30" "6446" "0" "6446" "0" "c.6446G>T" "r.(?)" "p.(Gly2149Val)" "" "0000851976" "00000234" "30" "6822" "0" "6822" "0" "c.6822T>C" "r.(?)" "p.(Ala2274=)" "" "0000851977" "00000234" "50" "7045" "0" "7045" "0" "c.7045T>C" "r.(?)" "p.(Tyr2349His)" "" "0000851978" "00000234" "50" "7085" "0" "7085" "0" "c.7085G>A" "r.(?)" "p.(Ser2362Asn)" "" "0000851979" "00000234" "30" "8478" "0" "8478" "0" "c.8478C>T" "r.(?)" "p.(Asn2826=)" "" "0000851980" "00000234" "30" "8508" "0" "8508" "0" "c.8508G>A" "r.(?)" "p.(Pro2836=)" "" "0000851981" "00000234" "30" "8692" "0" "8692" "0" "c.8692A>T" "r.(?)" "p.(Met2898Leu)" "" "0000861254" "00000234" "90" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Ter)" "" "0000861255" "00000234" "50" "3461" "0" "3461" "0" "c.3461G>T" "r.(?)" "p.(Ser1154Ile)" "" "0000861256" "00000234" "30" "5404" "9" "5404" "9" "c.5404+9C>T" "r.(=)" "p.(=)" "" "0000861257" "00000234" "30" "5562" "0" "5562" "0" "c.5562C>T" "r.(?)" "p.(Asp1854=)" "" "0000861258" "00000234" "30" "6079" "0" "6079" "0" "c.6079C>G" "r.(?)" "p.(Arg2027Gly)" "" "0000861259" "00000234" "30" "6588" "0" "6588" "0" "c.6588C>T" "r.(?)" "p.(Thr2196=)" "" "0000861260" "00000234" "30" "6672" "0" "6672" "0" "c.6672C>T" "r.(?)" "p.(Gly2224=)" "" "0000861261" "00000234" "50" "6908" "0" "6908" "0" "c.6908G>C" "r.(?)" "p.(Arg2303Thr)" "" "0000861262" "00000234" "30" "6965" "0" "6965" "0" "c.6965A>G" "r.(?)" "p.(Asn2322Ser)" "" "0000861263" "00000234" "30" "6965" "0" "6965" "0" "c.6965A>G" "r.(?)" "p.(Asn2322Ser)" "" "0000861264" "00000234" "30" "7173" "0" "7173" "0" "c.7173C>T" "r.(?)" "p.(Ala2391=)" "" "0000861265" "00000234" "30" "7278" "0" "7278" "0" "c.7278G>A" "r.(?)" "p.(Gln2426=)" "" "0000861266" "00000234" "70" "7629" "0" "7629" "0" "c.7629A>T" "r.(?)" "p.(Lys2543Asn)" "" "0000861267" "00000234" "90" "7814" "0" "7814" "0" "c.7814del" "r.(?)" "p.(Met2605Serfs*34)" "" "0000861268" "00000234" "30" "8352" "0" "8352" "0" "c.8352C>T" "r.(?)" "p.(Thr2784=)" "" "0000874577" "00000234" "70" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Arg2062Trp)" "21" "0000874578" "00000234" "70" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Arg2062Trp)" "0" "0000874579" "00000234" "70" "6184" "0" "6184" "0" "c.6184C>T" "r.(?)" "p.(Arg2062Trp)" "21" "0000874583" "00000234" "70" "1480" "0" "1480" "0" "c.1480C>T" "r.(?)" "p.(Arg494Ter)" "0" "0000877377" "00000234" "70" "6236" "0" "6236" "0" "c.6236del" "r.(?)" "p.(Lys2079Serfs*65)" "31" "0000881186" "00000234" "90" "5405" "-7" "5405" "-7" "c.5405-7G>A" "r.spl" "p.?" "" "0000888397" "00000234" "30" "141" "0" "141" "0" "c.141T>C" "r.(?)" "p.(Phe47=)" "" "0000888398" "00000234" "30" "289" "0" "289" "0" "c.289G>A" "r.(?)" "p.(Gly97Arg)" "" "0000888399" "00000234" "50" "944" "0" "944" "0" "c.944A>G" "r.(?)" "p.(Tyr315Cys)" "" "0000888400" "00000234" "30" "1046" "0" "1046" "0" "c.1046A>G" "r.(?)" "p.(Asn349Ser)" "" "0000888401" "00000234" "30" "1179" "0" "1179" "0" "c.1179A>G" "r.(?)" "p.(Pro393=)" "" "0000888402" "00000234" "30" "1397" "0" "1397" "0" "c.1397C>T" "r.(?)" "p.(Ser466Leu)" "" "0000888403" "00000234" "30" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(His605Asp)" "" "0000888404" "00000234" "70" "2133" "0" "2133" "0" "c.2133G>T" "r.(?)" "p.(Lys711Asn)" "" "0000888405" "00000234" "90" "2572" "0" "2573" "0" "c.2572_2573insT" "r.(?)" "p.(Arg858Leufs*3)" "" "0000888406" "00000234" "50" "2604" "0" "2604" "0" "c.2604C>G" "r.(?)" "p.(Phe868Leu)" "" "0000888407" "00000234" "50" "2830" "0" "2830" "0" "c.2830C>T" "r.(?)" "p.(Arg944Cys)" "" "0000888408" "00000234" "30" "4354" "-9" "4354" "-9" "c.4354-9C>G" "r.(=)" "p.(=)" "" "0000888409" "00000234" "50" "4354" "0" "4354" "0" "c.4354G>A" "r.(?)" "p.(Val1452Ile)" "" "0000888410" "00000234" "30" "4533" "20" "4533" "20" "c.4533+20G>A" "r.(=)" "p.(=)" "" "0000888411" "00000234" "30" "5156" "0" "5156" "0" "c.5156A>G" "r.(?)" "p.(Asp1719Gly)" "" "0000888412" "00000234" "30" "5405" "-18" "5405" "-18" "c.5405-18C>T" "r.(=)" "p.(=)" "" "0000888413" "00000234" "50" "5429" "0" "5429" "0" "c.5429G>A" "r.(?)" "p.(Arg1810Gln)" "" "0000888414" "00000234" "30" "5754" "0" "5754" "0" "c.5754T>C" "r.(?)" "p.(Thr1918=)" "" "0000888415" "00000234" "10" "5754" "0" "5754" "0" "c.5754T>C" "r.(?)" "p.(Thr1918=)" "" "0000888416" "00000234" "10" "5757" "0" "5757" "0" "c.5757C>G" "r.(?)" "p.(Ala1919=)" "" "0000888417" "00000234" "30" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Ala1950Thr)" "" "0000888418" "00000234" "50" "6205" "0" "6205" "0" "c.6205C>G" "r.(?)" "p.(Leu2069Val)" "" "0000888419" "00000234" "30" "6216" "0" "6216" "0" "c.6216C>G" "r.(?)" "p.(Pro2072=)" "" "0000888420" "00000234" "30" "6775" "0" "6775" "0" "c.6775G>A" "r.(?)" "p.(Ala2259Thr)" "" "0000888421" "00000234" "30" "6924" "0" "6924" "0" "c.6924G>A" "r.(?)" "p.(Ser2308=)" "" "0000888422" "00000234" "30" "6989" "0" "6989" "0" "c.6989G>C" "r.(?)" "p.(Gly2330Ala)" "" "0000888423" "00000234" "90" "7222" "0" "7222" "0" "c.7222G>T" "r.(?)" "p.(Glu2408*)" "" "0000888424" "00000234" "10" "7749" "0" "7749" "0" "c.7749A>G" "r.(?)" "p.(Glu2583=)" "" "0000888425" "00000234" "30" "8661" "0" "8661" "0" "c.8661G>A" "r.(?)" "p.(Pro2887=)" "" "0000888426" "00000234" "30" "8672" "0" "8672" "0" "c.8672A>G" "r.(?)" "p.(Asn2891Ser)" "" "0000888427" "00000234" "50" "8957" "0" "8957" "0" "c.8957G>A" "r.(?)" "p.(Gly2986Glu)" "" "0000903255" "00000234" "90" "3655" "0" "3655" "0" "c.3655C>T" "r.(?)" "p.(Arg1219*)" "" "0000903256" "00000234" "90" "7276" "0" "7276" "0" "c.7276C>T" "r.(?)" "p.(Gln2426*)" "" "0000903257" "00000234" "90" "6292" "0" "6292" "0" "c.6292C>T" "r.(?)" "p.(Arg2098*)" "" "0000908896" "00000234" "90" "5405" "-22" "5405" "-22" "c.5405-22T>A" "r.[5404_5405ins[5405-20_5405-1],5404_5405ins[a;5405-21_5405-1],5404_5405ins[5404+1_5405-23;a;5405-21_5405-1]]" "p.[Gly1802Alafs*35,Gly1802Glufs*10,Tyr1803Lysfs*3]" "" "0000912968" "00000234" "30" "1626" "0" "1626" "0" "c.1626A>G" "r.(?)" "p.(Pro542=)" "" "0000912969" "00000234" "30" "3051" "0" "3051" "0" "c.3051C>A" "r.(?)" "p.(Gly1017=)" "" "0000912970" "00000234" "90" "3378" "5" "3378" "5" "c.3378+5G>A" "r.spl?" "p.?" "" "0000912971" "00000234" "30" "3989" "9" "3989" "9" "c.3989+9C>T" "r.(=)" "p.(=)" "" "0000912972" "00000234" "30" "4437" "0" "4437" "0" "c.4437G>A" "r.(?)" "p.(Gly1479=)" "" "0000912973" "00000234" "30" "4720" "0" "4720" "0" "c.4720A>T" "r.(?)" "p.(Met1574Leu)" "" "0000912974" "00000234" "30" "5051" "-14" "5051" "-14" "c.5051-14G>T" "r.(=)" "p.(=)" "" "0000912975" "00000234" "30" "5270" "0" "5270" "0" "c.5270C>T" "r.(?)" "p.(Ala1757Val)" "" "0000912976" "00000234" "30" "6682" "0" "6682" "0" "c.6682G>A" "r.(?)" "p.(Gly2228Arg)" "" "0000912977" "00000234" "50" "7678" "0" "7678" "0" "c.7678C>T" "r.(?)" "p.(Pro2560Ser)" "" "0000912978" "00000234" "30" "8488" "0" "8488" "0" "c.8488G>A" "r.(?)" "p.(Ala2830Thr)" "" "0000916863" "00000234" "50" "7391" "0" "7391" "0" "c.7391A>G" "r.(?)" "p.(Lys2464Arg)" "34" "0000924893" "00000234" "30" "444" "0" "444" "0" "c.444G>A" "r.(?)" "p.(Arg148=)" "" "0000924894" "00000234" "50" "1375" "0" "1375" "0" "c.1375C>T" "r.(?)" "p.(Arg459Cys)" "" "0000924895" "00000234" "30" "2675" "0" "2675" "0" "c.2675G>A" "r.(?)" "p.(Arg892His)" "" "0000924896" "00000234" "50" "7097" "0" "7097" "0" "c.7097T>C" "r.(?)" "p.(Leu2366Pro)" "" "0000924897" "00000234" "50" "7212" "0" "7214" "0" "c.7212_7214del" "r.(?)" "p.(Arg2405del)" "" "0000924898" "00000234" "30" "8790" "0" "8790" "0" "c.8790C>T" "r.(?)" "p.(Ala2930=)" "" "0000927838" "00000234" "70" "4033" "0" "4033" "0" "c.4033C>T" "r.(?)" "p.(Arg1345Cys)" "" "0000929465" "00000234" "30" "227" "0" "227" "0" "c.227A>C" "r.(?)" "p.(Glu76Ala)" "" "0000929466" "00000234" "50" "982" "0" "982" "0" "c.982A>T" "r.(?)" "p.(Met328Leu)" "" "0000929467" "00000234" "10" "1565" "0" "1565" "0" "c.1565G>T" "r.(?)" "p.(Gly522Val)" "" "0000929468" "00000234" "30" "3522" "11" "3522" "11" "c.3522+11G>C" "r.(=)" "p.(=)" "" "0000929469" "00000234" "90" "5202" "0" "5202" "0" "c.5202del" "r.(?)" "p.(Cys1735Valfs*14)" "" "0000929470" "00000234" "30" "6711" "0" "6711" "0" "c.6711C>T" "r.(?)" "p.(Ser2237=)" "" "0000929471" "00000234" "30" "6965" "0" "6965" "0" "c.6965A>G" "r.(?)" "p.(Asn2322Ser)" "" "0000929472" "00000234" "30" "8835" "0" "8835" "0" "c.8835A>G" "r.(?)" "p.(=)" "" "0000931512" "00000234" "70" "7512" "0" "7515" "0" "c.7512_7515dup" "r.(?)" "p.(Glu2506Trpfs*19)" "" "0000933816" "00000234" "90" "6956" "0" "6956" "0" "c.6956G>T" "r.(?)" "p.(Arg2319Leu)" "" "0000935913" "00000234" "90" "7252" "0" "7252" "0" "c.7252C>T" "r.(?)" "p.(Arg2418*)" "" "0000939822" "00000234" "90" "2572" "0" "2572" "0" "c.2572C>T" "r.(?)" "p.(Arg858Ter)" "8" "0000949099" "00000234" "50" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.(Gln254Glu)" "" "0000949100" "00000234" "30" "1018" "0" "1018" "0" "c.1018A>G" "r.(?)" "p.(Met340Val)" "" "0000949101" "00000234" "50" "2639" "0" "2639" "0" "c.2639A>G" "r.(?)" "p.(Asp880Gly)" "" "0000949102" "00000234" "50" "3107" "0" "3107" "0" "c.3107G>A" "r.(?)" "p.(Arg1036Gln)" "" "0000949103" "00000234" "30" "4275" "0" "4275" "0" "c.4275C>T" "r.(?)" "p.(Phe1425=)" "" "0000949104" "00000234" "30" "4605" "0" "4605" "0" "c.4605T>C" "r.(?)" "p.(=)" "" "0000949105" "00000234" "50" "4951" "0" "4951" "0" "c.4951C>T" "r.(?)" "p.(Leu1651Phe)" "" "0000949106" "00000234" "50" "5926" "0" "5926" "0" "c.5926C>T" "r.(?)" "p.(Arg1976Cys)" "" "0000949107" "00000234" "50" "6349" "0" "6349" "0" "c.6349C>T" "r.(?)" "p.(Leu2117Phe)" "" "0000949108" "00000234" "30" "7485" "0" "7485" "0" "c.7485G>T" "r.(?)" "p.(Arg2495Ser)" "" "0000949109" "00000234" "90" "7879" "0" "7879" "0" "c.7879C>T" "r.(?)" "p.(Arg2627*)" "" "0000949110" "00000234" "30" "7914" "0" "7914" "0" "c.7914A>C" "r.(?)" "p.(=)" "" "0000949111" "00000234" "50" "8699" "0" "8699" "0" "c.8699C>A" "r.(?)" "p.(Pro2900Gln)" "" "0000965029" "00000234" "10" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Pro30=)" "" "0000965030" "00000234" "10" "549" "0" "549" "0" "c.549T>C" "r.(?)" "p.(=)" "" "0000965033" "00000234" "30" "2499" "-3708" "2499" "-3708" "c.2499-3708del" "r.(=)" "p.(=)" "" "0000965034" "00000234" "10" "2499" "-3708" "2499" "-3708" "c.2499-3708dup" "r.(=)" "p.(=)" "" "0000965036" "00000234" "30" "6965" "0" "6965" "0" "c.6965A>G" "r.(?)" "p.(Asn2322Ser)" "" "0000978237" "00000234" "50" "-175" "16410" "-175" "16410" "c.-175+16410T>C" "r.(=)" "p.(=)" "" "0000978238" "00000234" "10" "309" "0" "309" "0" "c.309G>A" "r.(?)" "p.(Ser103=)" "" "0000978239" "00000234" "10" "657" "0" "657" "0" "c.657C>T" "r.(?)" "p.(Gly219=)" "" "0000978240" "00000234" "10" "856" "0" "856" "0" "c.856A>G" "r.(?)" "p.(Arg286Gly)" "" "0000978241" "00000234" "10" "2124" "0" "2124" "0" "c.2124T>C" "r.(?)" "p.(Ser708=)" "" "0000978242" "00000234" "10" "2230" "0" "2230" "0" "c.2230G>A" "r.(?)" "p.(Gly744Ser)" "" "0000978243" "00000234" "30" "2499" "-3709" "2499" "-3708" "c.2499-3709_2499-3708del" "r.(=)" "p.(=)" "" "0000978244" "00000234" "30" "3222" "0" "3222" "0" "c.3222C>T" "r.(?)" "p.(=)" "" "0000978245" "00000234" "50" "4516" "0" "4516" "0" "c.4516G>A" "r.(?)" "p.(Gly1506Ser)" "" "0000978246" "00000234" "10" "5307" "0" "5307" "0" "c.5307C>T" "r.(?)" "p.(Ala1769=)" "" "0000978247" "00000234" "30" "5405" "-413" "5405" "-413" "c.5405-413G>A" "r.(=)" "p.(=)" "" "0000978248" "00000234" "50" "5533" "0" "5533" "0" "c.5533G>A" "r.(?)" "p.(Gly1845Arg)" "" "0000978249" "00000234" "30" "6080" "0" "6080" "0" "c.6080G>A" "r.(?)" "p.(Arg2027Gln)" "" "0000978250" "00000234" "30" "6111" "0" "6111" "0" "c.6111C>T" "r.(?)" "p.(Pro2037=)" "" "0000978251" "00000234" "10" "6478" "0" "6478" "0" "c.6478G>A" "r.(?)" "p.(Ala2160Thr)" "" "0000978252" "00000234" "50" "6817" "0" "6817" "0" "c.6817A>G" "r.(?)" "p.(Asn2273Asp)" "" "0000978253" "00000234" "30" "7590" "0" "7590" "0" "c.7590A>G" "r.(?)" "p.(Lys2530=)" "" "0000978254" "00000234" "50" "7673" "0" "7673" "0" "c.7673C>T" "r.(?)" "p.(Pro2558Leu)" "" "0000978255" "00000234" "50" "8287" "0" "8295" "0" "c.8287_8295del" "r.(?)" "p.(Asn2763_Gln2765del)" "" "0000978256" "00000234" "50" "8885" "0" "8885" "0" "c.8885T>G" "r.(?)" "p.(Leu2962Arg)" "" "0000985230" "00000234" "70" "5499" "0" "5500" "0" "c.5499_5500del" "r.(?)" "p.(Gly1835Asnfs*9)" "26" "0000997238" "00000234" "90" "34" "0" "34" "0" "c.34G>T" "r.(?)" "p.(Glu12*)" "" "0000997239" "00000234" "50" "83" "0" "83" "0" "c.83G>C" "r.(?)" "p.(Gly28Ala)" "" "0000997240" "00000234" "30" "127" "0" "127" "0" "c.127A>G" "r.(?)" "p.(Ile43Val)" "" "0000997241" "00000234" "30" "240" "0" "240" "0" "c.240G>A" "r.(?)" "p.(Met80Ile)" "" "0000997242" "00000234" "90" "282" "0" "282" "0" "c.282del" "r.(?)" "p.(Asn96ThrfsTer115)" "" "0000997243" "00000234" "30" "420" "0" "420" "0" "c.420C>G" "r.(?)" "p.(Asp140Glu)" "" "0000997244" "00000234" "30" "473" "0" "473" "0" "c.473C>T" "r.(?)" "p.(Ala158Val)" "" "0000997245" "00000234" "30" "482" "0" "482" "0" "c.482A>G" "r.(?)" "p.(Gln161Arg)" "" "0000997246" "00000234" "30" "580" "0" "580" "0" "c.580G>A" "r.(?)" "p.(Ala194Thr)" "" "0000997247" "00000234" "50" "686" "0" "686" "0" "c.686C>T" "r.(?)" "p.(Thr229Ile)" "" "0000997248" "00000234" "30" "1051" "0" "1051" "0" "c.1051G>A" "r.(?)" "p.(Val351Ile)" "" "0000997249" "00000234" "50" "1274" "0" "1274" "0" "c.1274G>C" "r.(?)" "p.(Gly425Ala)" "" "0000997250" "00000234" "30" "1285" "0" "1285" "0" "c.1285A>C" "r.(?)" "p.(Asn429His)" "" "0000997251" "00000234" "30" "1424" "0" "1424" "0" "c.1424T>C" "r.(?)" "p.(Met475Thr)" "" "0000997252" "00000234" "50" "1677" "0" "1677" "0" "c.1677G>A" "r.(?)" "p.(=)" "" "0000997253" "00000234" "30" "1696" "0" "1696" "0" "c.1696C>G" "r.(?)" "p.(Pro566Ala)" "" "0000997254" "00000234" "50" "1813" "0" "1813" "0" "c.1813C>G" "r.(?)" "p.(His605Asp)" "" "0000997255" "00000234" "50" "1958" "0" "1958" "0" "c.1958C>G" "r.(?)" "p.(Pro653Arg)" "" "0000997256" "00000234" "30" "1967" "0" "1967" "0" "c.1967C>T" "r.(?)" "p.(Pro656Leu)" "" "0000997257" "00000234" "30" "2377" "-3" "2377" "-3" "c.2377-3dup" "r.spl?" "p.?" "" "0000997258" "00000234" "30" "2639" "0" "2639" "0" "c.2639A>T" "r.(?)" "p.(Asp880Val)" "" "0000997259" "00000234" "50" "2689" "0" "2689" "0" "c.2689C>T" "r.(?)" "p.(Arg897Trp)" "" "0000997260" "00000234" "50" "2711" "0" "2711" "0" "c.2711A>G" "r.(?)" "p.(Tyr904Cys)" "" "0000997261" "00000234" "50" "2960" "0" "2960" "0" "c.2960G>A" "r.(?)" "p.(Arg987Gln)" "" "0000997262" "00000234" "50" "3378" "6" "3378" "6" "c.3378+6T>G" "r.(=)" "p.(=)" "" "0000997263" "00000234" "50" "3949" "0" "3949" "0" "c.3949C>T" "r.(?)" "p.(Arg1317Cys)" "" "0000997264" "00000234" "50" "4385" "0" "4385" "0" "c.4385A>G" "r.(?)" "p.(Asp1462Gly)" "" "0000997265" "00000234" "30" "4720" "0" "4720" "0" "c.4720A>T" "r.(?)" "p.(Met1574Leu)" "" "0000997266" "00000234" "70" "5211" "-2" "5211" "-2" "c.5211-2A>C" "r.spl?" "p.?" "" "0000997267" "00000234" "50" "5351" "0" "5351" "0" "c.5351A>C" "r.(?)" "p.(Asp1784Ala)" "" "0000997268" "00000234" "30" "5656" "0" "5656" "0" "c.5656C>G" "r.(?)" "p.(His1886Asp)" "" "0000997269" "00000234" "30" "5666" "0" "5666" "0" "c.5666G>A" "r.(?)" "p.(Gly1889Asp)" "" "0000997270" "00000234" "30" "5848" "0" "5848" "0" "c.5848G>A" "r.(?)" "p.(Ala1950Thr)" "" "0000997271" "00000234" "30" "5915" "0" "5915" "0" "c.5915C>G" "r.(?)" "p.(Ala1972Gly)" "" "0000997272" "00000234" "50" "6032" "0" "6032" "0" "c.6032T>G" "r.(?)" "p.(Leu2011Trp)" "" "0000997273" "00000234" "50" "6255" "0" "6255" "0" "c.6255G>T" "r.(?)" "p.(Leu2085Phe)" "" "0000997274" "00000234" "30" "6401" "0" "6401" "0" "c.6401A>G" "r.(?)" "p.(Asn2134Ser)" "" "0000997275" "00000234" "50" "6746" "0" "6746" "0" "c.6746A>G" "r.(?)" "p.(Asp2249Gly)" "" "0000997276" "00000234" "50" "6880" "0" "6880" "0" "c.6880C>A" "r.(?)" "p.(Pro2294Thr)" "" "0000997277" "00000234" "30" "7097" "0" "7097" "0" "c.7097T>G" "r.(?)" "p.(Leu2366Arg)" "" "0000997278" "00000234" "50" "7390" "0" "7390" "0" "c.7390A>G" "r.(?)" "p.(Lys2464Glu)" "" "0000997279" "00000234" "50" "7516" "0" "7516" "0" "c.7516G>C" "r.(?)" "p.(Glu2506Gln)" "" "0000997280" "00000234" "30" "7591" "0" "7591" "0" "c.7591C>T" "r.(?)" "p.(Arg2531Trp)" "" "0000997281" "00000234" "50" "8105" "0" "8105" "0" "c.8105G>A" "r.(?)" "p.(Arg2702His)" "" "0000997282" "00000234" "50" "8225" "0" "8225" "0" "c.8225A>G" "r.(?)" "p.(Asn2742Ser)" "" "0000997283" "00000234" "30" "8933" "0" "8933" "0" "c.8933G>A" "r.(?)" "p.(Gly2978Asp)" "" "0001008521" "00000234" "70" "1807" "0" "1808" "0" "c.1807_1808del" "r.(?)" "p.(Asn603Glnfs*10)" "3" "0001011761" "00000234" "70" "4644" "1" "4644" "1" "c.4644+1G>T" "r.spl" "p.?" "" "0001012261" "00000234" "70" "4853" "0" "4853" "0" "c.4853G>A" "r.(?)" "p.(Trp1618*)" "22" "0001014455" "00000234" "30" "1180" "0" "1180" "0" "c.1180C>T" "r.(?)" "p.(Pro394Ser)" "" "0001014456" "00000234" "50" "2068" "0" "2068" "0" "c.2068C>T" "r.(?)" "p.(Pro690Ser)" "" "0001014457" "00000234" "50" "5501" "0" "5501" "0" "c.5501G>A" "r.(?)" "p.(Arg1834Lys)" "" "0001014458" "00000234" "30" "6247" "0" "6247" "0" "c.6247C>T" "r.(?)" "p.(Pro2083Ser)" "" "0001014459" "00000234" "30" "6660" "0" "6660" "0" "c.6660T>G" "r.(?)" "p.(Gly2220=)" "" "0001014460" "00000234" "30" "8950" "0" "8950" "0" "c.8950C>T" "r.(?)" "p.(Leu2984Phe)" "" "0001025531" "00000234" "90" "934" "0" "934" "0" "c.934C>T" "r.(?)" "p.(Arg312*)" "" "0001025532" "00000234" "30" "1958" "0" "1958" "0" "c.1958C>T" "r.(?)" "p.(Pro653Leu)" "" "0001025533" "00000234" "70" "2603" "0" "2603" "0" "c.2603T>A" "r.(?)" "p.(Phe868Tyr)" "" "0001025534" "00000234" "50" "3299" "0" "3299" "0" "c.3299G>A" "r.(?)" "p.(Arg1100His)" "" "0001025535" "00000234" "90" "3822" "0" "3822" "0" "c.3822del" "r.(?)" "p.(Asn1274Lysfs*12)" "" "0001025536" "00000234" "70" "5402" "0" "5402" "0" "c.5402A>C" "r.(?)" "p.(His1801Pro)" "" "0001025537" "00000234" "50" "8287" "0" "8295" "0" "c.8287_8295del" "r.(?)" "p.(Asn2763_Gln2765del)" "" "0001025538" "00000234" "50" "8957" "0" "8957" "0" "c.8957G>C" "r.(?)" "p.(Gly2986Ala)" "" "0001027543" "00000234" "90" "5428" "0" "5428" "0" "c.5428C>T" "r.(?)" "p.(Arg1810Ter)" "" "0001029699" "00000234" "70" "2499" "-1" "2499" "-1" "c.2499-1G>C" "r.spl?" "p.?" "7i" "0001036997" "00000234" "50" "760" "0" "760" "0" "c.760C>G" "r.(?)" "p.(Gln254Glu)" "" "0001036998" "00000234" "30" "1423" "0" "1423" "0" "c.1423A>G" "r.(?)" "p.(Met475Val)" "" "0001036999" "00000234" "30" "1665" "396" "1665" "396" "c.1665+396C>T" "r.(=)" "p.(=)" "" "0001037000" "00000234" "30" "2053" "0" "2058" "0" "c.2053_2058dup" "r.(?)" "p.(Ala685_Lys686dup)" "" "0001037001" "00000234" "30" "2182" "0" "2182" "0" "c.2182G>C" "r.(?)" "p.(Asp728His)" "" "0001037002" "00000234" "30" "2239" "-163" "2239" "-163" "c.2239-163T>G" "r.(=)" "p.(=)" "" "0001037003" "00000234" "30" "3327" "0" "3327" "0" "c.3327G>A" "r.(?)" "p.(=)" "" "0001037004" "00000234" "30" "5405" "-315" "5405" "-315" "c.5405-315C>T" "r.(=)" "p.(=)" "" "0001037005" "00000234" "50" "5564" "0" "5564" "0" "c.5564C>T" "r.(?)" "p.(Pro1855Leu)" "" "0001037006" "00000234" "50" "5856" "0" "5856" "0" "c.5856A>C" "r.(?)" "p.(Glu1952Asp)" "" "0001037007" "00000234" "30" "6135" "0" "6135" "0" "c.6135G>A" "r.(?)" "p.(Pro2045=)" "" "0001037008" "00000234" "70" "6159" "0" "6160" "0" "c.6159_6160insG" "r.(?)" "p.(Thr2054Aspfs*6)" "" "0001037009" "00000234" "50" "6551" "0" "6551" "0" "c.6551A>T" "r.(?)" "p.(Lys2184Met)" "" "0001037010" "00000234" "50" "6611" "0" "6611" "0" "c.6611A>G" "r.(?)" "p.(Lys2204Arg)" "" "0001037011" "00000234" "30" "6682" "0" "6682" "0" "c.6682G>A" "r.(?)" "p.(Gly2228Arg)" "" "0001037012" "00000234" "30" "6738" "0" "6738" "0" "c.6738G>A" "r.(?)" "p.(Glu2246=)" "" "0001037013" "00000234" "30" "6989" "0" "6989" "0" "c.6989G>C" "r.(?)" "p.(Gly2330Ala)" "" "0001037014" "00000234" "30" "7278" "0" "7278" "0" "c.7278G>A" "r.(?)" "p.(Gln2426=)" "" "0001046164" "00000234" "50" "353" "0" "353" "0" "c.353G>A" "r.(?)" "p.(Ser118Asn)" "" "0001046165" "00000234" "50" "6356" "0" "6356" "0" "c.6356A>T" "r.(?)" "p.(Asp2119Val)" "" "0001046166" "00000234" "50" "6368" "0" "6368" "0" "c.6368C>T" "r.(?)" "p.(Ser2123Phe)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 92 "{{screeningid}}" "{{variantid}}" "0000050643" "0000079623" "0000050654" "0000079634" "0000051440" "0000080489" "0000080968" "0000130054" "0000105420" "0000170840" "0000105424" "0000170844" "0000211113" "0000442542" "0000232549" "0000474966" "0000232552" "0000474967" "0000232598" "0000474972" "0000232632" "0000474968" "0000232632" "0000474970" "0000232632" "0000474971" "0000232659" "0000474969" "0000268366" "0000601056" "0000295818" "0000652507" "0000295819" "0000652508" "0000295820" "0000652509" "0000295821" "0000652510" "0000296493" "0000653182" "0000296616" "0000653305" "0000303796" "0000667191" "0000304104" "0000667502" "0000304765" "0000668271" "0000304766" "0000668272" "0000304767" "0000668273" "0000304768" "0000668274" "0000305256" "0000668944" "0000305257" "0000668945" "0000305258" "0000668946" "0000306329" "0000670017" "0000307335" "0000673955" "0000307384" "0000674007" "0000308867" "0000683301" "0000308868" "0000683302" "0000308931" "0000683365" "0000316212" "0000698362" "0000316218" "0000698368" "0000317294" "0000699818" "0000325479" "0000708488" "0000329741" "0000714146" "0000335524" "0000733971" "0000335529" "0000733989" "0000335536" "0000734017" "0000335542" "0000734034" "0000335553" "0000734072" "0000335588" "0000734173" "0000335603" "0000734238" "0000335632" "0000734310" "0000335634" "0000734319" "0000335635" "0000734325" "0000335708" "0000734435" "0000335714" "0000734461" "0000335716" "0000734470" "0000336071" "0000734982" "0000336074" "0000734997" "0000336077" "0000735016" "0000336083" "0000735061" "0000336086" "0000735072" "0000336148" "0000735236" "0000336161" "0000735273" "0000336253" "0000735469" "0000336255" "0000735475" "0000336259" "0000735487" "0000336272" "0000735545" "0000373749" "0000783985" "0000375440" "0000786791" "0000375441" "0000786792" "0000375883" "0000787234" "0000378351" "0000791102" "0000393026" "0000823612" "0000416472" "0000874577" "0000416473" "0000874578" "0000416474" "0000874579" "0000416478" "0000874583" "0000417658" "0000877377" "0000420827" "0000881186" "0000426290" "0000903255" "0000426291" "0000903256" "0000426292" "0000903257" "0000429423" "0000908896" "0000431643" "0000916863" "0000436718" "0000927838" "0000436844" "0000931512" "0000439784" "0000935913" "0000441880" "0000939822" "0000451367" "0000985230" "0000456287" "0001008521" "0000457293" "0001011761" "0000457716" "0001012261" "0000463923" "0001027543" "0000465916" "0001029699"