### LOVD-version 3000-21b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = KAT6B) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "KAT6B" "K(lysine) acetyltransferase 6B" "10" "q22.2" "unknown" "NG_032048.1" "UD_134408563615" "" "http://www.LOVD.nl/KAT6B" "" "1" "1" "17582" "23522" "605880" "1" "1" "1" "" "" "g" "http://databases.lovd.nl/shared/refseq/KAT6B_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00081" "2018-12-31 00:35:22" "00081" "2018-08-17 22:30:18" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00010305" "KAT6B" "transcript variant 1" "001" "NM_012330.3" "" "NP_036462.2" "" "" "" "-701" "7798" "6222" "76586171" "76792380" "" "0000-00-00 00:00:00" "" "" "00023816" "KAT6B" "transcript variant 2" "002" "NM_001256468.1" "" "NP_001243397.1" "" "" "" "-701" "7249" "5673" "76586171" "76792380" "00006" "2013-05-27 16:34:05" "" "" "00023817" "KAT6B" "transcript variant 3" "003" "NM_001256469.1" "" "NP_001243398.1" "" "" "" "-701" "6922" "5346" "76586171" "76792380" "00006" "2013-05-27 16:34:05" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 5 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00135" "GTPTS" "genitopatellar syndrome (GTPTS)" "606170" "" "" "" "00006" "2013-05-27 16:24:07" "00006" "2015-12-08 23:54:35" "00136" "SBBYSS" "Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, Ohdo syndrome)" "603736" "" "" "" "00006" "2013-05-27 16:25:40" "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" "00198" "?" "unclassified / mixed" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2016-10-22 17:54:40" "00383" "NS" "syndrome, Noonan (NS)" "" "" "autosomal dominant" "" "00008" "2014-05-14 14:26:30" "00006" "2018-06-20 14:57:22" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{geneid}}" "{{diseaseid}}" "KAT6B" "00135" "KAT6B" "00136" "KAT6B" "00139" ## Individuals ## Do not remove or alter this header ## ## Count = 79 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "00018483" "" "" "" "1" "00747" "9" "00747" "2014-07-17 18:42:46" "00081" "2014-07-17 19:07:36" "" "Typical Say Barber Biesecker" "F" "" "" "" "0" "" "" "" "" "00018485" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:14:12" "00081" "2014-07-17 23:41:26" "" "Say Barber Biesecker Study" "" "" "" "" "0" "" "" "" "" "00018486" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:20:29" "00081" "2014-07-17 23:41:28" "" "" "" "" "" "" "0" "" "" "" "" "00018488" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:31:23" "00081" "2014-07-17 23:41:30" "" "" "" "" "" "" "0" "" "" "" "" "00018491" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:44:58" "00081" "2014-07-17 23:41:36" "" "" "" "" "" "" "0" "" "" "" "" "00018492" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:49:40" "00081" "2014-07-18 20:05:12" "" "" "" "" "" "" "0" "" "" "" "" "00018493" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:53:59" "00081" "2014-07-17 23:41:39" "" "" "" "" "" "" "0" "" "" "" "" "00018494" "" "" "" "1" "00747" "9" "00747" "2014-07-17 22:58:49" "00081" "2014-07-17 23:41:41" "" "" "M" "" "" "" "0" "" "" "" "" "00018495" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:06:17" "00081" "2014-07-17 23:41:43" "" "" "M" "" "" "" "0" "" "" "" "" "00018496" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:12:52" "00081" "2014-07-17 23:41:45" "" "" "F" "no" "United Kingdom (Great Britain)" "" "0" "" "" "" "" "00018497" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:20:15" "00081" "2014-07-17 23:41:48" "" "" "F" "" "" "" "0" "" "" "" "" "00018498" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:25:16" "00081" "2014-07-17 23:41:50" "" "" "F" "" "" "" "0" "" "" "" "" "00018499" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:29:59" "00081" "2014-07-17 23:35:32" "" "" "" "" "" "" "0" "" "" "" "" "00018500" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:35:13" "00081" "2014-07-17 23:40:22" "" "" "M" "" "" "" "0" "" "" "" "" "00018501" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:39:51" "00081" "2014-07-17 23:44:02" "" "" "" "" "" "" "0" "" "" "" "" "00018502" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:43:53" "00081" "2014-07-17 23:50:42" "" "" "F" "" "" "" "0" "" "" "" "" "00018504" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:54:08" "00081" "2014-07-18 20:05:19" "" "" "F" "" "" "" "0" "" "" "" "" "00018505" "" "" "" "1" "00747" "9" "00747" "2014-07-17 23:59:01" "00081" "2014-07-18 20:05:17" "" "" "" "" "" "" "0" "" "" "" "" "00018506" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:04:25" "00081" "2014-07-18 20:05:16" "" "" "" "" "" "" "0" "" "" "" "" "00018507" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:09:01" "00081" "2014-07-18 20:05:14" "" "Studied in Ulm" "" "" "" "" "0" "" "" "" "" "00018509" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:20:13" "00081" "2014-07-18 20:05:10" "" "" "" "" "" "" "0" "" "" "" "" "00018512" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:33:23" "00081" "2014-07-18 20:05:28" "" "" "F" "" "" "" "0" "" "" "" "" "00018513" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:38:47" "00081" "2014-07-18 20:05:26" "" "" "M" "" "" "" "0" "" "" "" "" "00018514" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:44:11" "00081" "2014-07-18 20:05:24" "" "" "M" "" "" "" "0" "" "" "" "" "00018515" "" "" "" "1" "00747" "9" "00747" "2014-07-18 00:48:02" "00081" "2014-07-18 20:05:22" "" "" "M" "" "" "" "0" "" "" "" "" "00018516" "" "" "" "1" "00081" "9" "00081" "2012-01-10 18:41:36" "00081" "2012-02-12 12:57:28" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018517" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:29:19" "00081" "2012-02-12 12:58:33" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018518" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:30:19" "00081" "2012-02-12 12:58:51" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018519" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:31:39" "00081" "2012-02-12 13:01:55" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018520" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:32:34" "00081" "2012-02-12 12:59:50" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018521" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:36:51" "00081" "2012-02-12 13:00:12" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018522" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:37:44" "00081" "2012-02-12 13:00:41" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018523" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:44:03" "00081" "2012-02-12 12:59:09" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018524" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:46:15" "00081" "2012-02-12 12:42:29" "{PMID:Clayton-Smith et al.:22077973}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018525" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:47:30" "00081" "2012-02-12 12:59:26" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018526" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:48:32" "00081" "2012-02-12 13:01:34" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018527" "" "" "" "1" "00081" "9" "00081" "2012-01-22 17:52:43" "00081" "2012-02-12 12:39:35" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018528" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:52:57" "00081" "2012-02-12 12:43:41" "{PMID:Simpson et al.:22265017}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018529" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:53:41" "00081" "2012-02-12 12:46:12" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018530" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:54:33" "00081" "2012-02-12 12:46:58" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018531" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:55:16" "00081" "2012-02-12 12:48:53" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018532" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:56:04" "00081" "2012-02-12 12:47:29" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018533" "" "" "" "1" "00081" "9" "00081" "2012-02-14 08:17:56" "00081" "2012-02-14 08:18:58" "{PMID:Kraft M et al.:21804188}" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018534" "" "" "" "1" "00081" "9" "00081" "2012-11-27 05:02:04" "" "" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018535" "" "" "" "1" "00081" "9" "00081" "2012-11-27 05:06:36" "" "" "" "" "" "?" "? (unknown)" "" "0" "" "" "?" "" "00018536" "" "" "" "1" "00081" "9" "00081" "2013-02-24 16:25:31" "00081" "2013-02-24 16:28:47" "Szakszon et al, AJMG 2013" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018537" "" "" "" "1" "00081" "9" "00081" "2013-02-24 16:28:04" "" "" "Szakszon et al, AJMG 2013" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018538" "" "" "" "1" "00081" "9" "00081" "2012-01-22 17:53:49" "00081" "2012-02-12 12:50:56" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018539" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:01:30" "00081" "2012-02-12 12:51:44" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018540" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:06:26" "00081" "2012-02-12 12:44:32" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018541" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:07:20" "00081" "2012-02-12 12:48:01" "" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018542" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:08:32" "00081" "2012-02-12 12:45:43" "" "" "M" "?" "? (unknown)" "" "0" "" "" "?" "" "00018543" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:16:26" "00081" "2012-02-12 13:01:11" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00018544" "" "" "" "1" "00081" "9" "00081" "2012-01-22 18:27:42" "00081" "2012-02-12 12:43:10" "{PMID:Clayton-Smith et al.:22077973}" "" "F" "?" "? (unknown)" "" "0" "" "" "?" "" "00050412" "" "" "" "1" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050507" "" "" "" "1" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050628" "" "" "" "2" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected father/child" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00050641" "" "" "" "1" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, affected and affected2nd degree relatives" "F" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" "" "00080993" "" "" "" "1" "01758" "9" "00006" "2016-09-07 13:24:08" "" "" "Trujillano et al., submitted" "unaffected non-carrier parents" "" "" "" "" "0" "" "" "" "" "00176986" "" "" "" "1" "00081" "9" "00081" "2018-08-14 17:45:59" "00081" "2018-08-14 18:14:52" "{PMID:[Lonardo 2017]:28857140}" "GPS and SBBYSS features present" "M" "no" "" "" "0" "" "" "" "" "00176987" "" "" "" "1" "00081" "9" "00081" "2018-08-14 19:10:04" "" "" "{PMID:[Lundsgaard 2017 ]:28232779 }" "" "F" "no" "" "" "0" "" "" "" "" "00176989" "" "" "" "1" "00081" "9" "00081" "2018-08-14 20:14:00" "" "" "{PMID:[Okano 2018]:29899993 }" "Genitopatellar syndrome (GPS)" "F" "no" "Japan" "" "0" "" "" "" "" "00176990" "" "" "" "1" "00081" "9" "00081" "2018-08-14 20:59:22" "" "" "{PMID:[Vlckova 2015]:26370006 }" "" "F" "no" "" "" "0" "" "" "" "" "00176993" "" "" "" "1" "00081" "9" "00081" "2018-08-14 21:42:23" "" "" "{PMID:Li 2017:28426343}" "" "M" "yes" "" "" "0" "" "" "" "" "00176994" "" "" "" "1" "00081" "9" "00081" "2018-08-14 21:52:45" "" "" "{PMID:Vlckova 2015:26370006 }" "" "F" "no" "Czech Republic" "" "0" "" "" "" "" "00177093" "" "" "" "1" "00081" "9" "00081" "2018-08-17 19:15:53" "" "" "{PMID:[Knight 2018]: 30084242}" "" "M" "" "" "" "0" "" "" "" "" "00177094" "" "" "" "1" "00081" "9" "00081" "2018-08-17 19:24:29" "" "" "{PMID:[Niida 2017]:27696664 }" "" "M" "" "" "" "0" "" "" "" "" "00177095" "" "" "" "1" "00081" "9" "00081" "2018-08-17 19:45:22" "" "" "{PMID:[Szakszon 2013]:23436491}" "" "M" "no" "" "" "0" "" "" "" "Patient 1 in report" "00177096" "" "" "" "1" "00081" "9" "00081" "2018-08-17 19:52:41" "" "" "{PMID:[Szakszon 2013]:23436491 }" "" "F" "no" "" "" "0" "" "" "" "Patient 2 in report" "00177097" "" "" "" "1" "00081" "9" "00081" "2018-08-17 19:59:48" "" "" "{PMID:[Kim 2017]:28758091 }" "" "F" "no" "" "" "0" "" "" "" "Daughter in report" "00177098" "" "" "" "1" "00081" "9" "00081" "2018-08-17 20:19:19" "" "" "{PMID:[Kim 2017]:28758091 }" "" "M" "" "" "" "0" "" "" "" "Father in report" "00177099" "" "" "" "1" "00081" "9" "00081" "2018-08-17 20:23:35" "" "" "{PMID:[Kim 2017]:28758091}" "" "M" "" "" "" "0" "" "" "" "Uncle in report" "00177100" "" "" "" "1" "00081" "9" "00081" "2018-08-17 20:29:02" "" "" "{PMID:[Marangi 2017]:29226580}" "" "F" "" "" "" "0" "" "" "" "" "00177101" "" "" "" "1" "00081" "9" "00081" "2018-08-17 20:36:22" "" "" "{PMID:[Radvanszky 2017]:27452416}" "" "F" "" "" "" "0" "" "" "" "" "00177102" "" "" "" "1" "00081" "9" "00081" "2018-08-17 20:46:29" "" "" "{PMID:[1]:[2]}" "" "F" "no" "" "" "0" "" "" "" "Patient 1 in report" "00177103" "" "" "" "1" "00081" "9" "00081" "2018-08-17 21:42:49" "" "" "{PMID:[Yilmaz 2015]:26334766}" "" "F" "yes" "" "" "0" "" "" "" "Patient 2 in report" "00177104" "" "" "" "1" "00081" "9" "00081" "2018-08-17 21:49:36" "" "" "{PMID:[Yilmaz 2015]:26334766}" "" "F" "no" "" "" "0" "" "" "" "Patient 3 in report" "00177105" "" "" "" "1" "00081" "9" "00081" "2018-08-17 22:19:33" "" "" "{PMID:[Bashir 2017]:28696035}" "" "M" "no" "" "" "0" "" "" "" "Patient 1 in report" "00177107" "" "" "" "1" "00081" "9" "00081" "2018-08-17 22:27:53" "" "" "{PMID:[Bashir 2017]:28696035}" "" "M" "no" "" "" "0" "" "" "" "Patient 2 in report" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 64 "{{individualid}}" "{{diseaseid}}" "00018483" "00136" "00018485" "00136" "00018486" "00136" "00018488" "00136" "00018491" "00136" "00018492" "00136" "00018493" "00136" "00018494" "00136" "00018495" "00136" "00018496" "00136" "00018497" "00136" "00018498" "00136" "00018499" "00136" "00018500" "00136" "00018501" "00136" "00018502" "00136" "00018504" "00136" "00018505" "00136" "00018506" "00136" "00018507" "00136" "00018509" "00136" "00018512" "00135" "00018513" "00135" "00018514" "00135" "00018515" "00136" "00018516" "00136" "00018517" "00136" "00018518" "00136" "00018519" "00136" "00018520" "00136" "00018521" "00136" "00018522" "00136" "00018523" "00136" "00018524" "00136" "00018525" "00136" "00018526" "00136" "00018527" "00135" "00018528" "00135" "00018529" "00135" "00018530" "00135" "00018531" "00135" "00018532" "00135" "00018533" "00383" "00018534" "00135" "00018535" "00136" "00018536" "00136" "00018537" "00136" "00018538" "00135" "00018539" "00135" "00018540" "00135" "00018541" "00135" "00018542" "00135" "00018543" "00136" "00018544" "00136" "00050412" "00198" "00050507" "00198" "00050628" "00198" "00050641" "00198" "00080993" "00135" "00176986" "00136" "00176987" "00136" "00176990" "00135" "00176990" "00136" "00176993" "00136" ## Phenotypes ## Do not remove or alter this header ## ## Count = 34 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Pancreas/Insufficiency}}" "{{Phenotype/Scalp/Defects}}" "{{Phenotype/Anorectum/Anomalies}}" "{{Phenotype/Genitals/Malformations}}" "{{Phenotype/Hypothyroidism}}" "{{Phenotype/Length/Stature}}" "{{Phenotype/Malformations/Other}}" "{{Phenotype/Biochem_param}}" "{{Phenotype/enzyme_act}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Head/Microcephaly}}" "{{Phenotype/Heart/Defects}}" "{{Phenotype/Teeth/Oligodontia}}" "{{Phenotype/Brain/Corpus_Callosum/Agenesis}}" "{{Phenotype/Behavior/Abnormality}}" "{{Phenotype/Birth/Gestational_age_wk}}" "{{Phenotype/Birth/OFC_at_birth_SDS}}" "{{Phenotype/Birth/Weight}}" "{{Phenotype/Brain_MRI}}" "{{Phenotype/Choanal_stenosis}}" "{{Phenotype/Bone/Age}}" "{{Phenotype/Development/Cognition}}" "{{Phenotype/Development/Speech/Delayed}}" "{{Phenotype/Elbow/Dislocated}}" "{{Phenotype/Extremities/Brachydactyly}}" "{{Phenotype/Extremities/Epiphyses/Cone_shaped}}" "{{Phenotype/Extremities/Nails/Small}}" "{{Phenotype/Extremities/Phalanges/Distal/Absent_5th}}" "{{Phenotype/Extremities/Phalanges/Distal/Prominent}}" "{{Phenotype/Extremities/Phalanges/Hypoplasia}}" "{{Phenotype/Extremities/Joints/Interphalangeal/Prominent}}" "{{Phenotype/Facial/Ears/Abnormal}}" "{{Phenotype/Facial/Ears/Tags}}" "{{Phenotype/Facial/Mouth/Wide}}" "{{Phenotype/Facial/Nose/Bridge}}" "{{Phenotype/Facial/Nose/Anteverted}}" "{{Phenotype/Facial/Philtrum/Length}}" "{{Phenotype/Facial/Philtrum/Width}}" "{{Phenotype/Facial/Ptosis}}" "{{Phenotype/Facial/Eyebrows/Density}}" "{{Phenotype/Feeding/Problems}}" "{{Phenotype/Feeding/Problems/Duration}}" "{{Phenotype/Feeding/Problems/Start}}" "{{Phenotype/Infections/Recurrent}}" "{{Phenotype/Growth}}" "{{Phenotype/Growth/Height_SDS}}" "{{Phenotype/Hair/Scalp}}" "{{Phenotype/Hearing/Other}}" "{{Phenotype/Hearing/Problems}}" "{{Phenotype/Hypertrichosis}}" "{{Phenotype/Hypotonia/Muscular/Generalized}}" "{{Phenotype/Hernia/Inguinal}}" "{{Phenotype/Intestinal/GastroEsophoegal_Reflux}}" "{{Phenotype/Intestinal/Stenosis_Pyloric}}" "{{Phenotype/Joint/Laxity}}" "{{Phenotype/Malformations/Cardiac}}" "{{Phenotype/Mouth/Cleft_palate}}" "{{Phenotype/Intestine/Abnormality}}" "{{Phenotype/Kidney/Anomaly}}" "{{Phenotype/Facial/Lacrimal_Duct/Abnormality}}" "{{Phenotype/Pectus_excavatum}}" "{{Phenotype/Scoliosis}}" "{{Phenotype/Seizures}}" "{{Phenotype/Seizures/Age/Onset}}" "{{Phenotype/Seizures/Frequency}}" "{{Phenotype/Seizures/Type}}" "{{Phenotype/Skin/Cutis_marmorata}}" "{{Phenotype/Skin/Eczema}}" "{{Phenotype/Skin/Wrinkling}}" "{{Phenotype/Patella/Small}}" "{{Phenotype/Vision/Astigmatism}}" "{{Phenotype/Vision/Coloboma}}" "{{Phenotype/Vision/Other}}" "{{Phenotype/Vision/Problems}}" "{{Phenotype/Enzyme/CreatineKinase}}" "{{Phenotype/Muscle/Electromyography}}" "{{Phenotype/Muscle/Biopsy}}" "{{Phenotype/Teeth/Anomalies}}" "{{Phenotype/Development/Speech}}" "{{Phenotype/Development/Motor_skills}}" "{{Phenotype/Age/Examined/Last}}" "{{Phenotype/Teeth}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Severity_score}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/TSC}}" "{{Phenotype/Diagnosis/Original}}" "{{Phenotype/Face/Shape}}" "{{Phenotype/Hemihypertrophy/HPO_0001528}}" "{{Phenotype/Intrauterine_growth_retardation/HPO/0001511}}" "{{Phenotype/Adrenal_hypoplasia/HPO_0000835}}" "{{Phenotype/Hypercalciuria/HPO_0002150}}" "{{Phenotype/Facial/Frontal_bossing/HPO_0002007}}" "{{Phenotype/Facial/Nose}}" "{{Phenotype/Arms_short/HPO_0009824}}" "{{Phenotype/Limbs_short/HPO_0006385}}" "{{Phenotype/Craniosynostosis/HPO_1363}}" "{{Phenotype/Osteopenia/HPO_0000938}}" "{{Phenotype/Epiphyses_smal/HPO_0010585}}" "{{Phenotype/Metaphyses_irregular/HPO_0003025}}" "{{Phenotype/Macrosomia/HPO_0001520}}" "{{Phenotype/Macroglossia/HPO_0000158}}" "{{Phenotype/Abdominal_wall_defect/HPO_0010866}}" "{{Phenotype/Hypoglycemia/HPO_0001943}}" "{{Phenotype/Tumor}}" "{{Phenotype/Karyotype}}" "{{Phenotype/Organomegaly}}" "{{Phenotype/Heart/Abnormality}}" "{{Phenotype/Eyelid/Naevus_flammeus/HPO_0010733}}" "{{Phenotype/Fever_episodic/HPO_0001954}}" "{{Phenotype/Dehydration/HPO_0001944}}" "{{Phenotype/Cyanosis/HPO_0000961}}" "{{Phenotype/Swallowing_poor/HPO_0002015}}" "{{Phenotype/Camptodactyly/HPO_0012385}}" "{{Phenotype/Cheeks_full/HPO_0000293}}" "{{Phenotype/Foot_abnormality/HPO_0001760}}" "{{Phenotype/Palate_high/HPO_0000218}}" "{{Phenotype/Sweating/Cold_induced}}" "{{Phenotype/Contractures/Joints_large/HPO_0005781}}" "{{Phenotype/Development_delay_global/HPO_0001263}}" "{{Phenotype/Neuropathy_peripheral/HPO_0009830}}" "{{Phenotype/Tumor/IHC}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Family/Criteria}}" "{{Phenotype/Family/History}}" "{{Phenotype/BleedingScore}}" "{{Phenotype/BleedingScore/Tool}}" "{{Phenotype/Sub_type}}" "{{Phenotype/Iron/Hepatic_elevated/HPO_0012465}}" "{{Phenotype/Hand/Small/HPO_0200055}}" "{{Phenotype/Hypermobility}}" "{{Phenotype/Obesity/HPO_0001513}}" "{{Phenotype/Intellectual_dis/HPO_0001249}}" "{{Phenotype/Puberty}}" "{{Phenotype/AmnioticFluid/Abnormality/HPO_0001560}}" "{{Phenotype/Placentomegaly}}" "{{Phenotype/Prenatal}}" "{{Phenotype/Birth/Length}}" "{{Phenotype/Hirsutism/Forehead/HPO_0011335}}" "{{Phenotype/Blepharophimosis/HPO_0000581}}" "{{Phenotype/Facial/Lips}}" "{{Phenotype/Facial/Micrognathia/HPO_0000347}}" "{{Phenotype/Neck/Webbed/HPO_0000465}}" "{{Phenotype/Laryngomalacia/HPO_0001601}}" "{{Phenotype/Thorax/Bell_shaped/HPO_0001591}}" "{{Phenotype/Ribs/Coat_hanger/HPO_0006665}}" "{{Phenotype/Diastasis_recti/HPO_0001540}}" "{{Phenotype/Hip/Coxa_valga/HPO_0002673}}" "{{Phenotype/Orbits/Shallow/HPO_0000586}}" "{{Phenotype/Ossification/Ectopic/HPO_0011986}}" "{{Phenotype/Hair/Alopecia}}" "{{Phenotype/Eye/Chorioretinopathy/HPO_0001145}}" "{{Phenotype/Eye/Eyelashes}}" "{{Phenotype/Kidney/Disease}}" "{{Phenotype/Cysts}}" "{{Phenotype/Aneurysm}}" "{{Phenotype/Hypertension/HPO_0000822}}" "{{Phenotype/Hematuria/HPO_0000790}}" "{{Phenotype/Nephrolithiasis/HPO_0000787}}" "{{Phenotype/Disease/Status}}" "{{Phenotype/Kidney/Size}}" "{{Phenotype/Dilatation}}" "{{Phenotype/Sleep}}" "{{Phenotype/Eye/Pupil}}" "{{Phenotype/Umbilicus}}" "{{Phenotype/Eye}}" "{{Phenotype/Creatinine/Level}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Protein/F8_Ag}}" "{{Phenotype/Protein/F8_C/Stage1}}" "{{Phenotype/Protein/F8_C/Stage2}}" "{{Phenotype/Protein/FAssay_ratio}}" "{{Phenotype/Immunology/Auto_antibodies}}" "{{Phenotype/Severity}}" "{{Phenotype/Abnormality}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Inclusion}}" "{{Phenotype/MRI/brain}}" "{{Phenotype/Eye/Lens/Cataract}}" "{{Phenotype/Head/Fontanel}}" "{{Phenotype/Eye/Ball}}" "{{Phenotype/Fistula}}" "{{Phenotype/Cancer/Sub_type}}" "{{Phenotype/BCells}}" "{{Phenotype/BCells_surf_Ig}}" "{{Phenotype/CD19}}" "{{Phenotype/CD20}}" "{{Phenotype/Immunoglobulin/IgA}}" "{{Phenotype/Immunoglobulin/IgE}}" "{{Phenotype/Immunoglobulin/IgG}}" "{{Phenotype/Immunoglobulin/IgG/IgG1}}" "{{Phenotype/Immunoglobulin/IgG/IgG2}}" "{{Phenotype/Immunoglobulin/IgG/IgG3}}" "{{Phenotype/Immunoglobulin/IgG/IgG4}}" "{{Phenotype/Immunoglobulin/IgM}}" "{{Phenotype/Enzyme/Kinase}}" "{{Phenotype/CD3}}" "{{Phenotype/CD4}}" "{{Phenotype/CD8}}" "{{Phenotype/Calcification}}" "{{Phenotype/Ion_Homeostasis}}" "{{Phenotype/Hormones}}" "{{Phenotype/Vitamin}}" "{{Phenotype/Protein/Multimer_profile}}" "{{Phenotype/DTI_Tractography}}" "{{Phenotype/Eye/OCT}}" "{{Phenotype/Vision/Field}}" "{{Phenotype/Vision/Acuity}}" "{{Phenotype/Vision/Optic_nerve/Hypoplasia}}" "{{Phenotype/Vision/Colour}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Growth/Retardation/Postnatal/HPO_0008897}}" "{{Phenotype/Asymmetry/Body}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Habits}}" "{{Phenotype/Reproduction/Abnormal/Physiology}}" "{{Phenotype/Testis/Abnormal}}" "{{Phenotype/Eye/Movement}}" "{{Phenotype/Skin}}" "{{Phenotype/Finger_Toe/Abnormal}}" "{{Phenotype/Urine}}" "{{Phenotype/Hair/Pigmentation}}" "{{Phenotype/Histology}}" "{{Phenotype/Diagnosis/Criteria}}" "0000016869" "00136" "00018516" "00081" "9" "00081" "2012-01-10 18:41:36" "00081" "2012-02-12 12:57:28" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cryptorchidism; Hypospadias; Height 50 pctile; Weight 25 pctile; OFC <3 pctile; ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016870" "00136" "00018517" "00081" "9" "00081" "2012-01-22 18:29:19" "00081" "2012-02-12 12:58:33" "Unknown" "" "Mask-like facial appearance; Birth weight 0.4 pctile; Hypotonia; Learning Disability; Feeding problems; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias; Height 25 pctile; Weight 25 pctile; OFC 2 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016871" "00136" "00018518" "00081" "9" "00081" "2012-01-22 18:30:19" "00081" "2012-02-12 12:58:51" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Heart Defect; Cryptorchidism; Height 50 pctile; Weight 50 pctile; OFC 2 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016872" "00136" "00018519" "00081" "9" "00081" "2012-01-22 18:31:39" "00081" "2012-02-12 13:01:55" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Lacrimal ductabn.; Thyroid abnormal; Heart Defect; Height 9 pctile; Weight 75 pctile; OFC 91 pctile" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016873" "00136" "00018520" "00081" "9" "00081" "2012-01-22 18:32:34" "00081" "2012-02-12 12:59:50" "Unknown" "" "Mask-like facial appearance; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect; Cryptorchidism; Hypospadias;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016874" "00136" "00018521" "00081" "9" "00081" "2012-01-22 18:36:51" "00081" "2012-02-12 13:00:12" "Unknown" "" "Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.; Cleft palate; Thyroid abnormal; Heart Defect;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016875" "00136" "00018522" "00081" "9" "00081" "2012-01-22 18:37:44" "00081" "2012-02-12 13:00:41" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Lacrimal ductabn.; Cleft palate; Heart Defect; Height 2 pctile; Weight 9 pctile; OFC 2 to 9 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016876" "00136" "00018523" "00081" "9" "00081" "2012-01-22 18:44:03" "00081" "2012-02-12 12:59:09" "Unknown" "" "Mask-like facial appearance; Birth weight 9 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Height 2 to 9 pctile; Weight 50 pctile; OFC 50-75 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016877" "00136" "00018524" "00081" "9" "00081" "2012-01-22 18:46:15" "00081" "2012-02-12 12:42:29" "Unknown" "" "Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Cryptorchidism; Height 25-50 pctile; Weight 98 pctile; OFC 25-50 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016878" "00136" "00018525" "00081" "9" "00081" "2012-01-22 18:47:30" "00081" "2012-02-12 12:59:26" "Unknown" "" "Mask-like facial appearance; Birth weight 50 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Cleft palate; Height 50 pctile; Weight 75 pctile; OFC <50 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016879" "00136" "00018526" "00081" "9" "00081" "2012-01-22 18:48:32" "00081" "2012-02-12 13:01:34" "Unknown" "" "Mask-like facial appearance; Hypotonia; Feeding problems; Dental anomalies; Thyroid abnormal; Height 25 pctile; Weight 25 pctile; OFC 25 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016880" "00135" "00018527" "00081" "9" "00081" "2012-01-22 17:52:43" "00081" "2012-02-12 12:39:35" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Pelvic anomalies; Radioulnar synostosis; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Hearing loss; Anteriorly positioned anus; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Atrial septal defect; Tortuous ascending aorta; Facial dysmorphisms; Broad nasal bridge; Resp distress/apnea;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016881" "00135" "00018528" "00081" "9" "00081" "2012-01-22 18:52:57" "00081" "2012-02-12 12:43:41" "Unknown" "" "Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Hypoplastic patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defects (ASD, VSD, PDA);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016882" "00135" "00018529" "00081" "9" "00081" "2012-01-22 18:53:41" "00081" "2012-02-12 12:46:12" "Unknown" "" "Clitoral hypertrophy; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Pelvic anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016883" "00135" "00018530" "00081" "9" "00081" "2012-01-22 18:54:33" "00081" "2012-02-12 12:46:58" "Unknown" "" "Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Hydronephrosis; Congenital heart defect (ASD)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016884" "00135" "00018531" "00081" "9" "00081" "2012-01-22 18:55:16" "00081" "2012-02-12 12:48:53" "Unknown" "" "Scrotal hypoplasia; Cryptorchidism; Absent patellae; Flexion contractures of the knees; Club foot; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Coarse face; Broad/bulbous nose; Hydronephrosis; Pelvic anomaly; Congenital heart defect (PDA);" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016885" "00135" "00018532" "00081" "9" "00081" "2012-01-22 18:56:04" "00081" "2012-02-12 12:47:29" "Unknown" "" "Clitoral hypertrophy; Hypoplastic labia minora; Absent patellae; Flexion contractures of the hips; Flexion contractures of the knees; Aplasia of corpus callosum; Severe intellectual disability; Delayed motor milestones; Microcephaly; Coarse face; Broad/bulbous nose; Micrognathia; Pelvic anomaly" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016886" "00383" "00018533" "00081" "9" "00081" "2012-02-14 08:17:56" "00081" "2012-02-14 08:18:58" "Unknown" "" "Noonan syndrome–like phenotype; microcephaly; ADHD, IQ 75-80; Normal MRI; Blepharophimosis; Ptosis ; High arched eyebrows ; Low-set ears with overfolded helix and fleshy lobe, ; Smooth philtrum; Retrognathia; High arched palate; Short stature; Retarded bone age; Ligamentous laxity;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016887" "00135" "00018534" "00081" "9" "00081" "2012-11-27 05:02:04" "" "" "Unknown" "" "Oligohydramnios noted at 6 mo. Gestation; B wt 3.2 kg, term; Seizures from neonatal period; Failure to thrive; Global developmental delay; Microcephaly; Facial dysmorphism; Sparse hair- scalp, eye brow; Deficient abdominal wall muscles; Rudimentary scrotum, absent testes; Flexion contracure both hip and knee; Absent patellae both sides; CTEV on right side; Small patent ductus arteriosus; USG- Right PUJ obstruction with hydronephrosis, testes not imaged in inguinal canal or pelvis; EEG- bilateral epileptiform discharges; MRI- complete absence of corpus callosum; Left femoral head dislocated; MCU- dilatation of prostatic urethra, no VUR" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016888" "00136" "00018535" "00081" "9" "00081" "2012-11-27 05:06:36" "" "" "Unknown" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016889" "00136" "00018536" "00081" "9" "00081" "2013-02-24 16:25:31" "00081" "2013-02-24 16:28:47" "Unknown" "" "Small for gestational age, patent foramen ovale, gastrectasia, kidney lithiasis. developmental delay, severe hypotonia, feeding difficulties, urinary infections, and primary hypothyroidism. length <3rd centile, weight 3rd centile, and OFC 5th centile. Immobile face, a broad forehead with slight biparietal narrowing, sparse eyebrows and eyelashes, blepharophimosis, telecanthus, a broad and flat nasal bridge, a short nose with a bulbous nasal tip, a long philtrum, thin lip vermilion, and micrognathia. Ears posteriorly angulated, large, and apparently low-set. Broad and short neck. High palate. Fingers tapering with clinodactyly of the 5th fingers. The length of the middle finger was at the 25th centile while both thumbs appeared long. Bilateral cryptorchidism." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016890" "00136" "00018537" "00081" "9" "00081" "2013-02-24 16:28:04" "" "" "Unknown" "" "failure to thrive, hypotonia, cleft palate, and developmental delay. Round face, bilateral blepharophimosis, ptosis, apparently low-set and short ears with overfolded helix, prominent crus helix and antihelix, stenotic external ear canals, hypertelorism, low nasal bridge, long philtrum, thin lip; vermilion, and dental anomalies. The proximal phalanx of the thumbs was long. No visceral malformation; was detected on ultrasound examinations. She had primary hypothyroidism. Hearing impairment found by auditory steady state responses (ASSR) was mild and she did not require hearing aids. Motor and intellectual; development was severely delayed. IQ 38, severe intellectual disability. Brain MRI revealed delayed myelination and disruption of tracts in the periventricular white matter [Szakszon et al., 2011]. At 4 years, the bony islands of the patellae have not yet appeared, consistent with delayed ossification." "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016891" "00135" "00018538" "00081" "9" "00081" "2012-01-22 17:53:49" "00081" "2012-02-12 12:50:56" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Hearing loss; Scrotal hypoplasia; Cryptochidism; Hydronephrosis; Patent ductus arteriosus; Patent foramen ovale and; Facial dysmorphisms; Broad nasal bridge; Tracheo/laryngomalacia; Feeding difficulties; Resp distress/apnea;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016892" "00135" "00018539" "00081" "9" "00081" "2012-01-22 18:01:30" "00081" "2012-02-12 12:51:44" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Brachydactyly; Short stature; Rib anomalies; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Optic atrophy/cortical visual impairment; Anteriorly positioned anus; Hypoplastic labia minora/majora; Underdeveloped clitoris; Hydronephrosis; Multicystic kidneys; Hypoplastic kidneys; Atrial septal defect; Facial dysmorphisms; Prominent nasal bridge; Teeth anomalies; sparse hair; Tracheo/laryngomalacia; Feeding difficulties; Small bowel malrotation" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016893" "00135" "00018540" "00081" "9" "00081" "2012-01-22 18:06:26" "00081" "2012-02-12 12:44:32" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Pelvic anomalies; ; Rib anomalies; Joint laxity; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Isolated seizure; Optic atrophy/cortical visual impairment; Anal atresia/stenosis; Scrotal hypoplasia; Hydronephrosis; Atrial septal defect; Ventricular septal defect; Facial dysmorphisms; Prominent nasal bridge; Retrognatia/micrognatia; full cheeks; ear anomalies; Teeth anomalies; sparse hair; Single palmar crease; Feeding difficulties; Skin laxity/redundance;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016894" "00135" "00018541" "00081" "9" "00081" "2012-01-22 18:07:20" "00081" "2012-02-12 12:48:01" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Thoracolumbar kyphosis/scoliosis; Microcephaly; Developmental delay or intellectual disability; Absent or thin corpus callosum; Colpocephaly/ventriculomegaly; Subdural hemorrhage; Hypoplastic labia minora/majora; Clitoromegaly; Hydronephrosis; Facial dysmorphisms; Feeding difficulties; Hypothyroidism;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016895" "00135" "00018542" "00081" "9" "00081" "2012-01-22 18:08:32" "00081" "2012-02-12 12:45:43" "Unknown" "" "Absent or hypoplastic patellae; Flexion deformities; Club feet; Developmental delay or intellectual disability; Absent or thin corpus callosum; Pachygyria ; Subependymal periventricular nodular heterotopia; Anal atresia/stenosis; Rectal duplication; Scrotal hypoplasia; Cryptochidism; Multicystic kidneys; Atrial septal defect; ;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016896" "00136" "00018543" "00081" "9" "00081" "2012-01-22 18:16:26" "00081" "2012-02-12 13:01:11" "Unknown" "" "Mask-like facial appearance; Birth weight 75 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Long thumbs; Long great toes; Hearing problem; Abnormal patella; Lacrimal ductabn.;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000016897" "00136" "00018544" "00081" "9" "00081" "2012-01-22 18:27:42" "00081" "2012-02-12 12:43:10" "Unknown" "" "Birth weight 24 pctile; Hypotonia; Learning Disability; Feeding problems; Dental anomalies; Hearing problem; Lacrimal ductabn.; Thyroid abnormal; Height 25 pctile; Weight 50 pctile; OFC 9 pctile;" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037024" "00198" "00050412" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "Isolated (sporadic)" "" "intrauterine growth retardation, delayed speech and language development, specific learning disability, telecanthus, blepharophimosis, microtia" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037119" "00198" "00050507" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "Isolated (sporadic)" "" "blepharophimosis, global developmental delay, congenital ptosis, generalized hypotonia, narrow forehead, bilateral single transverse palmar creases, abnormality of the face, small chin, epicanthus, low-set posteriorly rotated ears" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037240" "00198" "00050628" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "Unknown" "" "cognitive impairment, microcephaly, gait ataxia, slender build, short stature" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000037253" "00198" "00050641" "00006" "9" "00006" "2015-09-27 16:16:40" "" "" "Unknown" "" "microcephaly, supernumerary nipples, pectus carinatum, global developmental delay, specific learning disability, delayed speech and language development, incomprehensible speech" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000060562" "00135" "00080993" "01758" "9" "00006" "2016-09-07 13:24:08" "" "" "Isolated (sporadic)" "" "Genitopatellar syndrome (OMIM:606170)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 79 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000018467" "00018483" "1" "00747" "00747" "2014-07-17 18:44:29" "" "" "SEQ" "DNA" "" "" "0000018469" "00018485" "1" "00747" "00747" "2014-07-17 22:16:11" "" "" "SEQ" "DNA" "" "" "0000018470" "00018486" "1" "00747" "00747" "2014-07-17 22:22:18" "" "" "SEQ" "DNA" "" "" "0000018472" "00018488" "1" "00747" "00747" "2014-07-17 22:32:44" "" "" "SEQ" "DNA" "" "" "0000018475" "00018491" "1" "00747" "00747" "2014-07-17 22:46:23" "" "" "SEQ" "DNA" "" "" "0000018476" "00018492" "1" "00747" "00747" "2014-07-17 22:51:08" "" "" "SEQ" "DNA" "" "" "0000018477" "00018493" "1" "00747" "00747" "2014-07-17 22:55:32" "" "" "SEQ" "DNA" "" "" "0000018478" "00018494" "1" "00747" "00747" "2014-07-17 23:00:59" "" "" "SEQ" "DNA" "" "" "0000018479" "00018495" "1" "00747" "00747" "2014-07-17 23:08:14" "" "" "SEQ" "DNA" "" "" "0000018480" "00018496" "1" "00747" "00747" "2014-07-17 23:16:41" "" "" "SEQ" "DNA" "" "" "0000018481" "00018497" "1" "00747" "00747" "2014-07-17 23:21:35" "" "" "SEQ" "DNA" "" "" "0000018482" "00018498" "1" "00747" "00747" "2014-07-17 23:26:38" "" "" "SEQ" "DNA" "" "" "0000018483" "00018499" "1" "00747" "00747" "2014-07-17 23:31:31" "" "" "SEQ" "DNA" "" "" "0000018484" "00018500" "1" "00747" "00747" "2014-07-17 23:36:39" "" "" "SEQ" "DNA" "" "" "0000018485" "00018501" "1" "00747" "00747" "2014-07-17 23:41:22" "" "" "SEQ" "DNA" "" "" "0000018486" "00018502" "1" "00747" "00747" "2014-07-17 23:45:41" "" "" "SEQ" "DNA" "" "" "0000018488" "00018504" "1" "00747" "00747" "2014-07-17 23:55:44" "" "" "SEQ" "DNA" "" "" "0000018489" "00018505" "1" "00747" "00747" "2014-07-18 00:00:24" "" "" "SEQ" "DNA" "" "" "0000018490" "00018506" "1" "00747" "00747" "2014-07-18 00:05:31" "" "" "SEQ" "DNA" "" "" "0000018491" "00018507" "1" "00747" "00747" "2014-07-18 00:10:15" "" "" "SEQ" "DNA" "" "" "0000018493" "00018509" "1" "00747" "00747" "2014-07-18 00:21:53" "" "" "SEQ" "DNA" "" "" "0000018496" "00018512" "1" "00747" "00747" "2014-07-18 00:34:50" "" "" "SEQ" "DNA" "" "" "0000018497" "00018513" "1" "00747" "00747" "2014-07-18 00:40:20" "" "" "SEQ" "DNA" "" "" "0000018498" "00018514" "1" "00747" "00747" "2014-07-18 00:45:17" "" "" "SEQ" "DNA" "" "" "0000018499" "00018515" "1" "00747" "00747" "2014-07-18 00:49:36" "" "" "SEQ" "DNA" "" "" "0000018500" "00018516" "1" "00081" "00081" "2012-01-10 18:41:36" "00081" "2012-01-24 18:36:37" "SEQ" "DNA" "" "" "0000018501" "00018517" "1" "00081" "00081" "2012-01-22 18:29:19" "00081" "2012-01-24 18:36:11" "SEQ" "DNA" "" "" "0000018502" "00018518" "1" "00081" "00081" "2012-01-22 18:30:19" "00081" "2012-01-24 18:37:00" "SEQ" "DNA" "" "" "0000018503" "00018519" "1" "00081" "00081" "2012-01-22 18:31:39" "00081" "2012-01-24 18:38:47" "SEQ" "DNA" "" "" "0000018504" "00018520" "1" "00081" "00081" "2012-01-22 18:32:34" "00081" "2012-01-24 18:37:31" "SEQ" "DNA" "" "" "0000018505" "00018521" "1" "00081" "00081" "2012-01-22 18:36:51" "00081" "2012-01-24 18:37:57" "SEQ" "DNA" "" "" "0000018506" "00018522" "1" "00081" "00081" "2012-01-22 18:37:44" "00081" "2012-01-24 18:37:57" "SEQ" "DNA" "" "" "0000018507" "00018523" "1" "00081" "00081" "2012-01-22 18:44:03" "00081" "2012-01-24 18:37:00" "SEQ" "DNA" "" "" "0000018508" "00018524" "1" "00081" "00081" "2012-01-22 18:46:15" "00081" "2012-01-24 18:35:29" "SEQ" "DNA" "" "" "0000018509" "00018525" "1" "00081" "00081" "2012-01-22 18:47:30" "00081" "2012-01-24 18:37:17" "SEQ" "DNA" "" "" "0000018510" "00018526" "1" "00081" "00081" "2012-01-22 18:48:32" "00081" "2012-01-24 18:38:30" "SEQ" "DNA" "" "" "0000018511" "00018527" "1" "00081" "00081" "2012-01-22 17:52:43" "00081" "2012-01-24 18:31:28" "SEQ" "DNA" "" "" "0000018512" "00018528" "1" "00081" "00081" "2012-01-22 18:52:57" "00081" "2012-01-24 18:32:05" "SEQ" "DNA" "" "" "0000018513" "00018529" "1" "00081" "00081" "2012-01-22 18:53:41" "00081" "2012-01-24 18:32:30" "SEQ" "DNA" "" "" "0000018514" "00018530" "1" "00081" "00081" "2012-01-22 18:54:33" "00081" "2012-01-24 18:32:48" "SEQ" "DNA" "" "" "0000018515" "00018531" "1" "00081" "00081" "2012-01-22 18:55:16" "00081" "2012-01-24 18:33:33" "SEQ" "DNA" "" "" "0000018516" "00018532" "1" "00081" "00081" "2012-01-22 18:56:04" "00081" "2012-01-24 18:33:07" "SEQ" "DNA" "" "" "0000018517" "00018533" "1" "00081" "00081" "2012-02-14 08:17:56" "00081" "2012-02-14 08:19:49" "SEQ" "DNA" "" "" "0000018518" "00018534" "1" "00081" "00081" "2012-11-27 05:02:04" "00081" "2012-11-27 05:07:58" "SEQ" "DNA" "" "" "0000018519" "00018535" "1" "00081" "00081" "2012-11-27 05:06:36" "00081" "2012-11-27 05:08:30" "SEQ" "DNA" "" "" "0000018520" "00018536" "1" "00081" "00081" "2013-02-24 16:25:31" "" "" "SEQ" "DNA" "" "" "0000018521" "00018537" "1" "00081" "00081" "2013-02-24 16:28:04" "" "" "SEQ" "DNA" "" "" "0000018522" "00018538" "1" "00081" "00081" "2012-01-22 17:53:49" "00081" "2012-01-24 18:31:42" "SEQ" "DNA" "" "" "0000018523" "00018539" "1" "00081" "00081" "2012-01-22 18:01:30" "00081" "2012-01-24 18:31:09" "SEQ" "DNA" "" "" "0000018524" "00018540" "1" "00081" "00081" "2012-01-22 18:06:26" "00081" "2012-01-24 18:30:00" "SEQ" "DNA" "" "" "0000018525" "00018541" "1" "00081" "00081" "2012-01-22 18:07:20" "00081" "2012-01-24 18:30:46" "SEQ" "DNA" "" "" "0000018526" "00018542" "1" "00081" "00081" "2012-01-22 18:08:32" "00081" "2012-01-24 18:30:27" "SEQ" "DNA" "" "" "0000018527" "00018543" "1" "00081" "00081" "2012-01-22 18:16:26" "00081" "2012-01-24 18:38:15" "SEQ" "DNA" "" "" "0000018528" "00018544" "1" "00081" "00081" "2012-01-22 18:27:42" "00081" "2012-01-24 18:35:45" "SEQ" "DNA" "" "" "0000050357" "00050412" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050452" "00050507" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050573" "00050628" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000050586" "00050641" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" "" "0000081105" "00080993" "1" "01758" "00006" "2016-09-07 13:24:08" "" "" "SEQ;SEQ-NG" "DNA" "" "" "0000177876" "00176986" "1" "00081" "00081" "2018-08-14 17:48:23" "" "" "SEQ-NG" "DNA" "" "WES" "0000177879" "00176989" "1" "00081" "00081" "2018-08-14 20:15:00" "" "" "SEQ" "DNA" "" "" "0000177880" "00176990" "1" "00081" "00081" "2018-08-14 21:03:01" "" "" "SEQ-NG" "DNA" "" "WES" "0000177883" "00176987" "1" "00081" "00081" "2018-08-14 21:31:02" "" "" "SEQ" "DNA" "" "" "0000177884" "00176993" "1" "00081" "00081" "2018-08-14 21:44:22" "" "" "SEQ" "DNA" "" "" "0000177885" "00176994" "1" "00081" "00081" "2018-08-14 21:54:28" "" "" "SEQ" "DNA" "" "" "0000177993" "00177093" "1" "00081" "00081" "2018-08-17 19:18:15" "" "" "SEQ-NG" "DNA" "" "WES" "0000177994" "00177094" "1" "00081" "00081" "2018-08-17 19:36:15" "" "" "CMC" "DNA" "" "WES" "0000177995" "00177095" "1" "00081" "00081" "2018-08-17 19:49:01" "" "" "?" "DNA" "" "" "0000177996" "00177096" "1" "00081" "00081" "2018-08-17 19:54:18" "" "" "?" "DNA" "" "" "0000177997" "00177097" "1" "00081" "00081" "2018-08-17 20:01:01" "" "" "SEQ" "DNA" "" "" "0000177998" "00177098" "1" "00081" "00081" "2018-08-17 20:20:15" "" "" "SEQ" "DNA" "" "" "0000177999" "00177099" "1" "00081" "00081" "2018-08-17 20:24:58" "" "" "SEQ" "DNA" "" "" "0000178000" "00177100" "1" "00081" "00081" "2018-08-17 20:31:45" "" "" "SEQ-NG" "DNA" "" "" "0000178001" "00177101" "1" "00081" "00081" "2018-08-17 20:38:43" "" "" "?" "DNA" "" "" "0000178002" "00177102" "1" "00081" "00081" "2018-08-17 20:50:40" "" "" "PCR" "DNA" "" "" "0000178003" "00177103" "1" "00081" "00081" "2018-08-17 21:44:03" "" "" "PCR" "DNA" "" "" "0000178004" "00177104" "1" "00081" "00081" "2018-08-17 21:50:32" "" "" "PCR" "DNA" "" "" "0000178005" "00177105" "1" "00081" "00081" "2018-08-17 22:20:34" "" "" "SEQ-NG" "DNA" "" "WES" "0000178007" "00177107" "1" "00081" "00081" "2018-08-17 22:29:09" "" "" "SEQ-NG" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 65 "{{screeningid}}" "{{geneid}}" "0000018467" "KAT6B" "0000018469" "KAT6B" "0000018470" "KAT6B" "0000018472" "KAT6B" "0000018475" "KAT6B" "0000018476" "KAT6B" "0000018477" "KAT6B" "0000018478" "KAT6B" "0000018479" "KAT6B" "0000018480" "KAT6B" "0000018481" "KAT6B" "0000018482" "KAT6B" "0000018483" "KAT6B" "0000018484" "KAT6B" "0000018485" "KAT6B" "0000018486" "KAT6B" "0000018488" "KAT6B" "0000018489" "KAT6B" "0000018490" "KAT6B" "0000018491" "KAT6B" "0000018493" "KAT6B" "0000018496" "KAT6B" "0000018497" "KAT6B" "0000018498" "KAT6B" "0000018499" "KAT6B" "0000018500" "KAT6B" "0000018501" "KAT6B" "0000018502" "KAT6B" "0000018503" "KAT6B" "0000018504" "KAT6B" "0000018505" "KAT6B" "0000018506" "KAT6B" "0000018507" "KAT6B" "0000018508" "KAT6B" "0000018509" "KAT6B" "0000018510" "KAT6B" "0000018511" "KAT6B" "0000018512" "KAT6B" "0000018513" "KAT6B" "0000018514" "KAT6B" "0000018515" "KAT6B" "0000018516" "KAT6B" "0000018517" "KAT6B" "0000018518" "KAT6B" "0000018519" "KAT6B" "0000018520" "KAT6B" "0000018521" "KAT6B" "0000018522" "KAT6B" "0000018523" "KAT6B" "0000018524" "KAT6B" "0000018525" "KAT6B" "0000018526" "KAT6B" "0000018527" "KAT6B" "0000018528" "KAT6B" "0000050452" "KAT6B" "0000050573" "KAT6B" "0000050586" "KAT6B" "0000081105" "KAT6B" "0000177883" "KAT6B" "0000177884" "KAT6B" "0000177885" "KAT6B" "0000177996" "KAT6B" "0000177997" "KAT6B" "0000177998" "KAT6B" "0000177999" "KAT6B" ## 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 = 139 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{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}}" "0000038933" "0" "70" "10" "76784744" "76784745" "del" "0" "0" "00747" "9" "00747" "2014-07-17 18:48:47" "00006" "2014-07-19 15:39:57" "KAT6B_000025" "g.76784744_76784745del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75024986_75024987del" "" "0000038934" "0" "70" "10" "76789493" "76789503" "del" "0" "0" "00747" "9" "00747" "2014-07-17 18:54:16" "00006" "2014-07-19 15:37:58" "KAT6B_000015" "g.76789493_76789503del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029735_75029745del" "" "0000038935" "0" "70" "10" "76790006" "76790006" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 22:19:02" "00081" "2014-07-19 15:47:57" "KAT6B_000044" "g.76790006C>A" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030248C>A" "" "0000038936" "0" "70" "10" "76790206" "76790207" "del" "0" "0" "00747" "9" "00747" "2014-07-17 22:24:54" "00081" "2014-07-19 16:20:54" "KAT6B_000046" "g.76790206_76790207del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030448_75030449del" "" "0000038937" "0" "70" "10" "76790024" "76790027" "del" "0" "0" "00747" "9" "00747" "2014-07-17 22:30:22" "00006" "2014-07-19 15:43:03" "KAT6B_000028" "g.76790024_76790027del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75030266_75030269del" "" "0000038938" "0" "70" "10" "76789791" "76789791" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 22:34:17" "00006" "2014-07-19 15:42:29" "KAT6B_000027" "g.76789791C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75030033C>T" "" "0000038939" "0" "70" "10" "76788787" "76788788" "del" "0" "0" "00747" "9" "00747" "2014-07-17 22:39:22" "00006" "2014-07-19 15:38:48" "KAT6B_000010" "g.76788787_76788788del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029029_75029030del" "" "0000038940" "0" "70" "10" "76789697" "76789698" "del" "0" "0" "00747" "9" "00747" "2014-07-17 22:44:02" "00006" "2014-07-19 15:43:32" "KAT6B_000029" "g.76789697_76789698del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029939_75029940del" "" "0000038941" "0" "70" "10" "76790313" "76790313" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 22:48:53" "00081" "2014-07-19 16:20:56" "KAT6B_000047" "g.76790313C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030555C>T" "" "0000038942" "0" "70" "10" "76789884" "76789884" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 22:53:09" "00081" "2014-07-19 15:47:52" "KAT6B_000043" "g.76789884C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030126C>T" "" "0000038943" "0" "70" "10" "76789971" "76789971" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 22:57:28" "00081" "2014-07-19 16:20:15" "KAT6B_000016" "g.76789971C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030213C>T" "" "0000038944" "0" "70" "10" "76781764" "76781764" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:04:55" "00006" "2014-07-19 15:40:16" "KAT6B_000026" "g.76781764G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022006G>A" "" "0000038945" "0" "70" "10" "76781764" "76781764" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:10:40" "00006" "2014-07-19 15:42:04" "KAT6B_000026" "g.76781764G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022006G>A" "" "0000038946" "0" "70" "10" "76781764" "76781764" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:19:06" "00081" "2014-07-19 15:47:25" "KAT6B_000026" "g.76781764G>A" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022006G>A" "" "0000038947" "0" "70" "10" "76789310" "76789311" "del" "0" "0" "00747" "9" "00747" "2014-07-17 23:23:55" "00081" "2014-07-19 15:47:45" "KAT6B_000041" "g.76789310_76789311del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029552_75029553del" "" "0000038948" "0" "70" "10" "76788894" "76788894" "del" "0" "0" "00747" "9" "00747" "2014-07-17 23:28:42" "00081" "2014-07-19 15:47:42" "KAT6B_000039" "g.76788894del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75029136del" "" "0000038949" "0" "70" "10" "76781983" "76781986" "del" "0" "0" "00747" "9" "00747" "2014-07-17 23:34:02" "00081" "2014-07-19 15:47:27" "KAT6B_000033" "g.76781983_76781986del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75022225_75022228del" "" "0000038950" "0" "70" "10" "76789971" "76789971" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:38:23" "00081" "2014-07-19 16:21:00" "KAT6B_000016" "g.76789971C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030213C>T" "" "0000038951" "0" "70" "10" "76789971" "76789971" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:42:57" "00081" "2014-07-19 16:20:52" "KAT6B_000045" "g.76789971C>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75030213C>T" "" "0000038952" "0" "70" "10" "76781681" "76781681" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:48:04" "00081" "2014-07-19 15:47:23" "KAT6B_000032" "g.76781681G>T" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75021923G>T" "" "0000038953" "0" "70" "10" "76788787" "76788788" "del" "0" "0" "00747" "9" "00747" "2014-07-17 23:52:49" "00081" "2014-07-19 15:47:39" "KAT6B_000010" "g.76788787_76788788del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75029029_75029030del" "" "0000038954" "0" "70" "10" "76781657" "76781657" "subst" "0" "0" "00747" "9" "00747" "2014-07-17 23:57:21" "00081" "2014-07-19 15:45:27" "KAT6B_000030" "g.76781657C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75021899C>T" "" "0000038955" "0" "70" "10" "76788696" "76788696" "subst" "0" "0" "00747" "9" "00747" "2014-07-18 00:03:04" "00081" "2014-07-19 15:47:35" "KAT6B_000038" "g.76788696G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75028938G>T" "" "0000038956" "0" "70" "10" "76789713" "76789713" "del" "0" "0" "00747" "9" "00747" "2014-07-18 00:07:30" "00081" "2014-07-19 15:47:50" "KAT6B_000042" "g.76789713del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75029955del" "" "0000038957" "0" "70" "10" "76789884" "76789884" "subst" "0" "0" "00747" "9" "00747" "2014-07-18 00:12:09" "00081" "2014-07-19 15:47:53" "KAT6B_000043" "g.76789884C>T" "" "" "" "g.76789884C>T" "" "De novo" "" "" "0" "" "" "g.75030126C>T" "" "0000038958" "0" "50" "10" "76780981" "76780981" "subst" "0" "0" "00747" "9" "00747" "2014-07-18 00:17:02" "00081" "2014-07-19 15:45:40" "KAT6B_000031" "g.76780981T>C" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75021223T>C" "" "0000038959" "0" "70" "10" "76788902" "76788903" "del" "0" "0" "00747" "9" "00747" "2014-07-18 00:23:52" "00081" "2014-07-19 15:47:47" "KAT6B_000040" "g.76788902_76788903del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029144_75029145del" "" "0000038960" "0" "70" "10" "76788787" "76788788" "del" "0" "0" "00747" "9" "00747" "2014-07-18 00:28:02" "00081" "2014-07-19 15:47:40" "KAT6B_000010" "g.76788787_76788788del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75029029_75029030del" "" "0000038961" "0" "70" "10" "76788656" "76788661" "del" "0" "0" "00747" "9" "00747" "2014-07-18 00:32:26" "00081" "2014-07-19 15:47:33" "KAT6B_000037" "g.76788656_76788661del" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75028898_75028903del" "" "0000038962" "0" "70" "10" "76784941" "76784965" "dup" "0" "0" "00747" "9" "00747" "2014-07-18 00:36:59" "00081" "2014-07-19 15:47:29" "KAT6B_000034" "g.76784941_76784965dup" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75025183_75025207dup25" "" "0000038963" "0" "70" "10" "76788544" "76788545" "del" "0" "0" "00747" "9" "00747" "2014-07-18 00:42:21" "00081" "2014-07-19 15:47:32" "KAT6B_000036" "g.76788544_76788545del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75028786_75028787del" "" "0000038964" "0" "70" "10" "76788351" "76788354" "del" "0" "0" "00747" "9" "00747" "2014-07-18 00:47:08" "00006" "2014-07-21 13:38:43" "KAT6B_000035" "g.76788351_76788354del" "" "" "" "" "" "Unknown" "" "" "0" "" "" "g.75028593_75028596del" "" "0000038965" "0" "70" "10" "76789884" "76789884" "subst" "0" "0" "00747" "9" "00747" "2014-07-18 00:51:26" "00081" "2014-07-19 16:20:05" "KAT6B_000043" "g.76789884C>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "g.75030126C>T" "" "0000038966" "0" "99" "10" "76788987" "76788987" "dup" "0" "0" "00081" "9" "00081" "2012-01-10 18:41:36" "00081" "2012-01-24 18:36:37" "KAT6B_000001" "g.76788987dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029229dup" "" "0000038967" "0" "99" "10" "76788651" "76788651" "subst" "0" "0" "00081" "9" "00081" "2012-01-22 18:29:19" "00081" "2012-01-24 18:36:11" "KAT6B_000009" "g.76788651G>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028893G>T" "" "0000038968" "0" "99" "10" "76788787" "76788788" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:30:19" "00081" "2012-01-24 18:37:00" "KAT6B_000010" "g.76788787_76788788del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029029_75029030del" "" "0000038969" "0" "99" "10" "76790316" "76790316" "subst" "0" "0" "00081" "9" "00081" "2012-01-22 18:31:39" "00081" "2012-01-24 18:38:47" "KAT6B_000011" "g.76790316A>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030558A>T" "" "0000038970" "0" "99" "10" "76789612" "76789612" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:32:34" "00081" "2012-01-24 18:37:31" "KAT6B_000012" "g.76789612del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029854del" "" "0000038971" "0" "99" "10" "76789783" "76789792" "dup" "0" "0" "00081" "9" "00081" "2012-01-22 18:36:51" "00081" "2012-01-24 18:37:57" "KAT6B_000013" "g.76789783_76789792dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030025_75030034dup" "" "0000038972" "0" "99" "10" "76789783" "76789792" "dup" "0" "0" "00081" "9" "00081" "2012-01-22 18:37:44" "00081" "2012-01-24 18:37:57" "KAT6B_000013" "g.76789783_76789792dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030025_75030034dup" "" "0000038973" "0" "99" "10" "76788787" "76788788" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:44:03" "00081" "2012-01-24 18:37:00" "KAT6B_000010" "g.76788787_76788788del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029029_75029030del" "" "0000038974" "0" "99" "10" "76603142" "76603142" "dup" "0" "0" "00081" "9" "00081" "2012-01-22 18:46:15" "00081" "2012-01-24 18:35:29" "KAT6B_000014" "g.76603142dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.74843384dup" "" "0000038975" "0" "99" "10" "76789493" "76789503" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:47:30" "00081" "2012-01-24 18:37:17" "KAT6B_000015" "g.76789493_76789503del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029735_75029745del" "" "0000038976" "0" "99" "10" "76789971" "76789971" "subst" "0" "0" "00081" "9" "00081" "2012-01-22 18:48:32" "00081" "2012-01-24 18:38:30" "KAT6B_000016" "g.76789971C>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030213C>T" "" "0000038977" "0" "99" "10" "76788474" "76788474" "subst" "0" "0" "00081" "9" "00081" "2012-01-22 17:52:43" "00081" "2012-01-24 18:31:28" "KAT6B_000002" "g.76788474G>T" "" "{PMID:Campeau et al.:22265014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028716G>T" "" "0000038978" "0" "99" "10" "76788262" "76788277" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:52:57" "00081" "2012-01-24 18:32:05" "KAT6B_000017" "g.76788262_76788277del" "" "{PMID:Simpson et al.:22265017}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028504_75028519del" "" "0000038979" "0" "99" "10" "76788351" "76788354" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:53:41" "00081" "2012-01-24 18:32:30" "KAT6B_000018" "g.76788351_76788354del" "" "{PMID:Simpson et al.:22265017}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038980" "0" "99" "10" "76788351" "76788354" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:54:33" "00081" "2012-01-24 18:32:48" "KAT6B_000018" "g.76788351_76788354del" "" "{PMID:Simpson et al.:22265017}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038981" "0" "99" "10" "76788459" "76788459" "subst" "0" "0" "00081" "9" "00081" "2012-01-22 18:55:16" "00081" "2012-01-24 18:33:33" "KAT6B_000019" "g.76788459A>T" "" "{PMID:Simpson et al.:22265017}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028701A>T" "" "0000038982" "0" "99" "10" "76788355" "76788355" "dup" "0" "0" "00081" "9" "00081" "2012-01-22 18:56:04" "00081" "2012-01-24 18:33:07" "KAT6B_000020" "g.76788355dup" "" "{PMID:Simpson et al.:22265017}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028597dup" "" "0000038983" "0" "99" "10" "76629546" "76629547" "" "0" "0" "00081" "9" "00081" "2012-02-14 08:17:56" "00081" "2012-02-14 08:19:49" "KAT6B_000021" "t(10;13)(q22.3;q34)(g.76629546_76629547del)" "" "{PMID:Kraft M et al.:21804188}" "" "t(10;13)(q22.3;q34)(c.621+26310_c.621+26311)" "" "Unknown" "?" "" "0" "" "" "" "" "0000038984" "0" "99" "10" "76788442" "76788445" "del" "0" "0" "00081" "9" "00081" "2012-11-27 05:02:04" "00081" "2012-11-27 05:07:58" "KAT6B_000022" "g.76788442_76788445del" "" "" "" "c.3860_3863delTAAC" "" "Unknown" "?" "" "0" "" "" "g.75028684_75028687del" "" "0000038985" "0" "77" "10" "76790328" "76790328" "subst" "0" "0" "00081" "9" "00081" "2012-11-27 05:06:36" "00081" "2012-11-27 05:08:30" "KAT6B_000023" "g.76790328C>T" "" "" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030570C>T" "" "0000038986" "0" "99" "10" "76789646" "76789653" "delins" "0" "0" "00081" "9" "00081" "2013-02-24 16:25:31" "" "" "KAT6B_000024" "g.76789646_76789653delinsCACA" "" "Szakszon et al, AJMG 2013" "" "c.5064_5071delTACTATGGinsCACA" "" "Unknown" "?" "" "0" "" "" "g.75029888_75029895delinsCACA" "" "0000038987" "0" "99" "10" "76789971" "76789971" "subst" "0" "0" "00081" "9" "00081" "2013-02-24 16:28:04" "" "" "KAT6B_000016" "g.76789971C>T" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030213C>T" "" "0000038988" "0" "99" "10" "76788942" "76788950" "delins" "0" "0" "00081" "9" "00081" "2012-01-22 17:53:49" "00081" "2012-01-24 18:31:42" "KAT6B_000003" "g.76788942_76788950delinsAAAAACCAAAA" "" "{PMID:Campeau et al.:22265014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75029184_75029192delinsAAAAACCAAAA" "" "0000038989" "0" "99" "10" "76788384" "76788384" "subst" "0" "0" "00081" "9" "00081" "2012-01-22 18:01:30" "00081" "2012-01-24 18:31:09" "KAT6B_000004" "g.76788384G>T" "" "{PMID:Campeau et al.:22265014}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75028626G>T" "" "0000038990" "0" "99" "10" "76788351" "76788354" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:06:26" "00081" "2012-01-24 18:30:00" "KAT6B_000005" "g.76788351_76788354del" "" "{PMID:Campeau et al.:22265014}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038991" "0" "99" "10" "76788370" "76788371" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:07:20" "00081" "2012-01-24 18:30:46" "KAT6B_000006" "g.76788370_76788371del" "" "{PMID:Campeau et al.:22265014}" "" "c.3788_3789delAA" "" "Unknown" "?" "" "0" "" "" "g.75028612_75028613del" "" "0000038992" "0" "99" "10" "76788351" "76788354" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:08:32" "00081" "2012-01-24 18:30:27" "KAT6B_000005" "g.76788351_76788354del" "" "{PMID:Campeau et al.:22265014}" "" "c.3769_3772delTCTA" "" "Unknown" "?" "" "0" "" "" "g.75028593_75028596del" "" "0000038993" "0" "99" "10" "76789952" "76789955" "dup" "0" "0" "00081" "9" "00081" "2012-01-22 18:16:26" "00081" "2012-01-24 18:38:15" "KAT6B_000007" "g.76789952_76789955dup" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75030194_75030197dup" "" "0000038994" "0" "99" "10" "76781040" "76781040" "del" "0" "0" "00081" "9" "00081" "2012-01-22 18:27:42" "00081" "2012-01-24 18:35:45" "KAT6B_000008" "g.76781040del" "" "{PMID:Clayton-Smith et al.:22077973}" "" "" "" "Unknown" "?" "" "0" "" "" "g.75021282del" "" "0000079337" "0" "90" "10" "75971593" "78526861" "del" "33" "0" "00006" "9" "00006" "2015-09-27 16:16:40" "00000" "2018-03-07 06:38:05" "ADK_000001" "g.75971593_78526861del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.74211835_76767103del" "" "0000079432" "0" "90" "10" "76790455" "76790455" "delins" "33" "0" "00006" "9" "00006" "2015-09-27 16:16:40" "00000" "2015-09-27 16:21:18" "KAT6B_000049" "g.76790455_76790455delCTinsC" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75030697delinsC" "" "0000079553" "0" "90" "10" "76789623" "76789623" "subst" "33" "0" "00006" "9" "00006" "2015-09-27 16:16:40" "00000" "2015-09-27 16:21:15" "KAT6B_000048" "g.76789623G>A" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75029865G>A" "" "0000079566" "0" "90" "10" "76789597" "76789597" "subst" "33" "0" "00006" "9" "00006" "2015-09-27 16:16:40" "00000" "2015-09-27 16:53:06" "KAT6B_000050" "g.76789597G>C" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "" "De novo" "" "" "0" "" "" "g.75029839G>C" "" "0000130191" "0" "70" "10" "76788678" "76788678" "subst" "33" "0" "01758" "9" "00006" "2016-09-07 13:24:08" "00000" "2016-09-13 19:31:10" "KAT6B_000051" "g.76788678G>T" "" "Trujillano et al., submitted" "" "" "" "De novo" "" "" "0" "" "" "g.75028920G>T" "" "0000249460" "0" "30" "10" "76735377" "76735377" "subst" "33" "0.0000768876" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:45:58" "KAT6B_000055" "g.76735377A>C" "" "" "" "KAT6B:c.1282A>C (N428H)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281698" "0" "90" "10" "76732342" "76732342" "subst" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:44" "KAT6B_000053" "g.76732342C>T" "" "" "" "KAT6B:c.1006C>T (R336*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281699" "0" "50" "10" "76748783" "76748783" "subst" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:48:42" "KAT6B_000058" "g.76748783C>T" "" "" "" "KAT6B:c.2542C>T (L848F)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281700" "0" "30" "10" "76781837" "76781848" "del" "33" "0.011587" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:50:59" "KAT6B_000060" "g.76781837_76781848del" "" "" "" "KAT6B:c.3231_3242delCGAGGAGGAGGA (D1077_E1080del)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281701" "0" "10" "10" "76781906" "76781908" "del" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:52:39" "KAT6B_000061" "g.76781906_76781908del" "" "" "" "KAT6B:c.3310_3312delGAA (E1104del)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281702" "0" "10" "10" "76788660" "76788668" "del" "33" "0.0138201" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:57:09" "KAT6B_000069" "g.76788660_76788668del" "" "" "" "KAT6B:c.4097_4105delAAGAGGAAG (E1366_E1368del)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000281703" "0" "10" "10" "76788659" "76788660" "ins" "33" "0" "02325" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:56:55" "KAT6B_000067" "g.76788659_76788660insAAGAGGAAG" "" "" "" "KAT6B:c.4097_4105dupAAGAGGAAG (E1366_E1368dup)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000285462" "0" "30" "10" "76788686" "76788687" "ins" "33" "0" "02326" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:58:14" "KAT6B_000070" "g.76788686_76788687insAAGAGGAAG" "" "" "" "KAT6B:c.4097_4105dupAAGAGGAAG (E1366_E1368dup)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290004" "0" "50" "10" "76780942" "76780942" "subst" "33" "0.0000768876" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:48:57" "KAT6B_000059" "g.76780942T>C" "" "" "" "KAT6B:c.2920T>C (C974R)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290005" "0" "10" "10" "76781906" "76781908" "del" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:52:49" "KAT6B_000061" "g.76781906_76781908del" "" "" "" "KAT6B:c.3310_3312delGAA (E1104del)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290006" "0" "10" "10" "76781907" "76781908" "ins" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:53:33" "KAT6B_000063" "g.76781907_76781908insGAA" "" "" "" "KAT6B:c.3310_3312dupGAA (E1104dup)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290007" "0" "70" "10" "76789992" "76789992" "del" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:59" "KAT6B_000075" "g.76789992del" "" "" "" "KAT6B:c.5413delG (A1805Lfs*19)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000290008" "0" "90" "10" "76789995" "76789995" "del" "33" "0" "01943" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:52:00" "KAT6B_000076" "g.76789995del" "" "" "" "KAT6B:c.5413delG (A1805Lfs*19)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321618" "0" "30" "10" "76602877" "76602877" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 10:33:28" "KAT6B_000052" "g.76602877T>G" "" "" "" "KAT6B:NM_001256468.1:c.262T>G, NM_001256469.1:c.262T>G, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321619" "0" "30" "10" "76735218" "76735218" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:47" "KAT6B_000054" "g.76735218G>A" "" "" "" "KAT6B:NM_001256468.1:c.1123G>A, NM_001256469.1:c.1117+6G>A, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321620" "0" "30" "10" "76735534" "76735534" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:38" "KAT6B_000056" "g.76735534C>T" "" "" "" "KAT6B:NM_001256468.1:c.1439C>T, NM_012330.3:c.1439C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321621" "0" "30" "10" "76735563" "76735563" "subst" "33" "0.00115331" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:39" "KAT6B_000057" "g.76735563C>T" "" "" "" "KAT6B:NM_012330.3:c.1468C>T" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321622" "0" "30" "10" "76781906" "76781908" "dup" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:40" "KAT6B_000062" "g.76781906_76781908dup" "" "" "" "KAT6B:NM_001256468.1:c.2740_2742dup, NM_001256469.1:c.2413_2415dup, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321623" "0" "30" "10" "76784992" "76784992" "subst" "33" "0.00822697" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:40" "KAT6B_000064" "g.76784992G>T" "" "" "" "KAT6B:NM_001256468.1:c.3100G>T, NM_001256469.1:c.2773G>T, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321624" "0" "30" "10" "76788618" "76788618" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:41" "KAT6B_000065" "g.76788618G>T" "" "" "" "KAT6B:NM_001256468.1:c.3487G>T, NM_001256469.1:c.3160G>T, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321625" "0" "50" "10" "76788618" "76788618" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:41" "KAT6B_000065" "g.76788618G>T" "" "" "" "KAT6B:NM_001256468.1:c.3487G>T, NM_001256469.1:c.3160G>T, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321626" "0" "50" "10" "76788645" "76788650" "del" "33" "0.00535315" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 07:31:41" "KAT6B_000066" "g.76788645_76788650del" "" "" "" "KAT6B:NM_001256468.1:c.3514_3519del, NM_001256469.1:c.3187_3192del, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321627" "0" "50" "10" "76788679" "76788687" "ins" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:47" "KAT6B_000068" "g.76788679_76788687dup" "" "" "" "KAT6B:NM_001256468.1:c.3528_3529insGAAGAGGAA, NM_001256469.1:c.3201_3202insGAAGAGGAA, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321628" "0" "30" "10" "76789060" "76789060" "subst" "33" "0.0000768876" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:48" "KAT6B_000071" "g.76789060C>T" "" "" "" "KAT6B:NM_001256468.1:c.3929C>T, NM_001256469.1:c.3602C>T, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321629" "0" "30" "10" "76789215" "76789215" "subst" "33" "0.0000768876" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:48" "KAT6B_000072" "g.76789215G>A" "" "" "" "KAT6B:NM_001256468.1:c.4084G>A, NM_001256469.1:c.3757G>A, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321630" "0" "30" "10" "76789417" "76789417" "subst" "33" "0.00338305" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:48" "KAT6B_000073" "g.76789417G>A" "" "" "" "KAT6B:NM_001256468.1:c.4286G>A, NM_001256469.1:c.3959G>A, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321631" "0" "30" "10" "76789909" "76789909" "subst" "33" "0" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:48" "KAT6B_000074" "g.76789909C>A" "" "" "" "KAT6B:NM_001256468.1:c.4778C>A, NM_001256469.1:c.4451C>A, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000321632" "0" "70" "10" "76790749" "76790749" "subst" "33" "0.0000768876" "01804" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-07 09:44:48" "KAT6B_000077" "g.76790749A>G" "" "" "" "KAT6B:NM_001256468.1:c.5618A>G, NM_001256469.1:c.5291A>G, …" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000338738" "0" "50" "10" "76729859" "76729859" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 04:21:51" "KAT6B_000079" "g.76729859G>C" "" "" "" "KAT6B:NM_012330.3:c.928G>C (?)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000338739" "0" "10" "10" "76732253" "76732253" "subst" "33" "0.000539374" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 04:21:52" "KAT6B_000080" "g.76732253A>G" "" "" "" "KAT6B:NM_012330.2:c.929-12A>G (?)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000338740" "0" "90" "10" "76788246" "76788246" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:54:36" "KAT6B_000090" "g.76788246G>A" "" "" "" "KAT6B:NM_012330.2:c.3665-1G>A (?)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000340444" "0" "30" "10" "76602990" "76602990" "subst" "33" "0.00338305" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-10 04:47:54" "KAT6B_000078" "g.76602990C>T" "" "" "" "KAT6B:NM_012330.3:c.375C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000340445" "0" "10" "10" "76788860" "76788860" "subst" "33" "0.024604" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:58:28" "KAT6B_000092" "g.76788860C>T" "" "" "" "KAT6B:NM_012330.2:c.4278C>T (=)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000341684" "0" "90" "10" "76781789" "76781789" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:50:08" "KAT6B_000086" "g.76781789C>T" "" "" "" "KAT6B:NM_012330.3:c.3172C>T (Arg1058*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342018" "0" "30" "10" "76789417" "76789417" "subst" "33" "0.00338305" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:57" "KAT6B_000073" "g.76789417G>A" "" "" "" "KAT6B:NM_012330.3:c.4835G>A (Arg1612His)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342668" "0" "90" "10" "76732345" "76732345" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:54" "KAT6B_000081" "g.76732345C>T" "" "" "" "KAT6B:NM_012330.3:c.1009C>T (Arg337*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000342689" "0" "70" "10" "76732366" "76732366" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:55" "KAT6B_000082" "g.76732366C>T" "" "" "" "KAT6B:NM_012330.3:c.1030C>T (Arg344*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000343359" "0" "90" "10" "76741660" "76741660" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:47:30" "KAT6B_000083" "g.76741660C>T" "" "" "" "KAT6B:NM_012330.3:c.2347C>T (Arg783*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000344506" "0" "90" "10" "76781966" "76781967" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:53:56" "KAT6B_000089" "g.76781966_76781967del" "" "" "" "KAT6B:NM_012330.3::c.3349_3350del (Gln1117Valfs*19)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000344538" "0" "90" "10" "76788544" "76788545" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:56:31" "KAT6B_000036" "g.76788544_76788545del" "" "" "" "KAT6B:NM_012330.2:c.3962_3963del (Gln1321fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000345051" "0" "90" "10" "76781858" "76781858" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:51:24" "KAT6B_000087" "g.76781858G>T" "" "" "" "KAT6B:NM_012330.3:c.3241G>T (Glu1081*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000345052" "0" "90" "10" "76781875" "76781875" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:51:53" "KAT6B_000088" "g.76781875del" "" "" "" "KAT6B:NM_012330.3:c.3258del (Glu1087fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000345121" "0" "10" "10" "76788679" "76788687" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:57:52" "KAT6B_000091" "g.76788679_76788687del" "" "" "" "KAT6B:NM_012330.3:c.4097_4105del (Glu1366_Glu1368del)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000346902" "0" "90" "10" "76788961" "76788961" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:59:02" "KAT6B_000093" "g.76788961del" "" "" "" "KAT6B:NM_012330.3:c.4379del (Leu1460*)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000347392" "0" "90" "10" "76788370" "76788371" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:56:10" "KAT6B_000006" "g.76788370_76788371del" "" "" "" "KAT6B:NM_012330.2:c.3788_3789del (Lys1263fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000347753" "0" "90" "10" "76789184" "76789184" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:56" "KAT6B_000095" "g.76789184del" "" "" "" "KAT6B:NM_012330.3:c.4602del (Met1535fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000349641" "0" "90" "10" "76744953" "76744953" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:48:06" "KAT6B_000084" "g.76744953del" "" "" "" "KAT6B:NM_012330.3:c.2489del (Thr830fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000349682" "0" "90" "10" "76788355" "76788355" "dup" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:55:07" "KAT6B_000020" "g.76788355dup" "" "" "" "KAT6B:NM_012330.2:c.3773dup (Trp1259fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000350305" "0" "10" "10" "76789077" "76789077" "subst" "33" "0.024604" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:59:15" "KAT6B_000094" "g.76789077G>A" "" "" "" "KAT6B:NM_012330.2:c.4495G>A (Val1499Ile)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000350333" "0" "90" "10" "76789493" "76789503" "del" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 23:51:58" "KAT6B_000015" "g.76789493_76789503del" "" "" "" "KAT6B:NM_012330.2:c.4911_4921del (Val1638fs)" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000351368" "0" "30" "10" "76781046" "76781046" "subst" "33" "0" "02327" "9" "00006" "2018-01-15 20:58:59" "00000" "2018-03-09 13:49:19" "KAT6B_000085" "g.76781046A>G" "" "" "" "KAT6B:NM_012330.3:c.3021+3A>G" "VKGL data sharing initiative Nederland; correct HGVS to be checked" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000400747" "0" "70" "10" "76789971" "76789971" "subst" "0" "0" "00081" "9" "00081" "2018-08-14 18:12:50" "00081" "2018-08-14 18:15:49" "KAT6B_000016" "g.76789971C>T" "" "{PMID:[Lonardo 2017]:28857140}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400748" "0" "70" "10" "76790074" "76790074" "subst" "0" "0" "00081" "9" "00081" "2018-08-14 19:06:41" "" "" "KAT6B_000096" "g.76790074C>G" "" "{PMID:[Lundsgaard 2017 ]:28232779 }" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400752" "0" "70" "10" "76788753" "76788753" "subst" "0" "0" "00081" "9" "00081" "2018-08-14 21:05:21" "" "" "KAT6B_000099" "g.76788753G>T" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400755" "0" "70" "10" "76784944" "76784946" "del" "0" "0" "00081" "9" "00081" "2018-08-14 21:19:25" "" "" "KAT6B_000097" "g.76784944_76784946del" "" "{PMID:[Okano 2018]:29899993 }" "" "MC_000010.11: c.3603_3606del, p.Arg1201fs" "" "De novo" "" "" "0" "" "" "" "" "0000400757" "0" "70" "10" "76790074" "76790074" "subst" "0" "0" "00081" "9" "00081" "2018-08-14 21:32:21" "" "" "KAT6B_000096" "g.76790074C>G" "" "" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400758" "0" "70" "10" "76780346" "76780346" "subst" "0" "0" "00081" "9" "00081" "2018-08-14 21:46:02" "" "" "KAT6B_000100" "g.76780346T>A" "" "{PMID:Li 2017:28426343}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000400759" "0" "70" "10" "76788753" "76788753" "subst" "0" "0" "00081" "9" "00081" "2018-08-14 21:56:35" "" "" "KAT6B_000099" "g.76788753G>T" "" "{PMID:[Vlckova et al. 2015]:26370006 }" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401437" "0" "70" "10" "76788318" "76788318" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 19:20:10" "" "" "KAT6B_000101" "g.76788318C>T" "" "{PMID:[Knight 2018]: 30084242}" "" "" "" "Germline" "" "" "0" "" "" "" "" "0000401438" "0" "70" "10" "76789783" "76789792" "dup" "0" "0" "00081" "9" "00081" "2018-08-17 19:39:30" "" "" "KAT6B_000102" "g.76789783_76789792dupTGCTGCAGCA" "" "{PMID:[Niida 2017]:27696664 }" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401439" "0" "70" "10" "76789646" "76789653" "del" "0" "0" "00081" "9" "00081" "2018-08-17 19:51:34" "" "" "KAT6B_000024" "g.76789646_76789653delinsCACA" "" "{PMID:[Szakszon 2013]:23436491}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401440" "0" "70" "10" "76789971" "76789971" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 19:56:09" "" "" "KAT6B_000016" "g.76789971C>T" "" "{PMID:[Szakszon 2013]:23436491}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401441" "0" "70" "10" "76741612" "76741612" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 20:17:18" "" "" "KAT6B_000103" "g.76741612C>T" "" "{PMID:[Kim 2017]:28758091 }" "" "missense variant c.2292C>T p.(His767Tyr)" "Mutation inherited from father" "Not applicable" "" "" "0" "" "" "" "" "0000401442" "0" "70" "10" "76741612" "76741612" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 20:22:56" "" "" "KAT6B_000103" "g.76741612C>T" "" "{PMID:[Kim 2017]:28758091}" "" "missense variant c.2292C>T p.(His767Tyr)" "" "Not applicable" "" "" "0" "" "" "" "" "0000401443" "0" "70" "10" "76741612" "76741612" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 20:25:41" "" "" "KAT6B_000103" "g.76741612C>T" "" "{PMID:[Kim 2017]:28758091}" "" "missense variant c.2292C>T p.(His767Tyr)" "" "Not applicable" "" "" "0" "" "" "" "" "0000401444" "0" "70" "10" "76732381" "76732385" "del" "0" "0" "00081" "9" "00081" "2018-08-17 20:33:42" "" "" "KAT6B_000104" "g.76732381_76732385delTTAAA" "" "{PMID:[Marangi 2017]:29226580}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401445" "0" "70" "10" "76789174" "76789174" "del" "0" "0" "00081" "9" "00081" "2018-08-17 20:40:06" "" "" "KAT6B_000105" "g.76789174delA" "" "{PMID:[Radvanszky 2017]:27452416}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401446" "0" "70" "10" "76781764" "76781764" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 20:59:32" "00081" "2018-08-17 21:02:14" "KAT6B_000026" "g.76781764G>A" "" "{PMID:[Yilmaz 2015]:26334766}" "" "c.3147G>A, p.(Pro1049Pro)" "" "De novo" "" "" "0" "" "" "" "" "0000401447" "0" "70" "10" "76781764" "76781764" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 21:46:07" "00081" "2018-08-17 21:52:40" "KAT6B_000026" "g.76781764G>A" "" "{PMID:[Yilmaz 2015]:26334766}" "" "c.3147G>A, p.(Pro1050Pro)" "" "De novo" "" "" "0" "" "" "" "" "0000401448" "0" "70" "10" "76781764" "76781764" "subst" "0" "0" "00081" "9" "00081" "2018-08-17 21:51:51" "" "" "KAT6B_000026" "g.76781764G>A" "" "{PMID:[Yilmaz 2015]:26334766}" "" "c.3147G>A, p.(Pro1051Pro)" "" "De novo" "" "" "0" "" "" "" "" "0000401449" "0" "70" "10" "76789154" "76789154" "dup" "0" "0" "00081" "9" "00081" "2018-08-17 22:23:30" "" "" "KAT6B_000106" "g.76789154dupT" "" "{PMID:[Bashir 2017]:28696035}" "" "" "" "De novo" "" "" "0" "" "" "" "" "0000401450" "0" "70" "10" "76788787" "76788788" "del" "0" "0" "00081" "9" "00081" "2018-08-17 22:30:18" "" "" "KAT6B_000107" "g.76788787_76788788delCT" "" "{PMID:[Bashir 2017]:28696035}" "" "" "" "De novo" "" "" "0" "" "" "" "" ## 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. ## Count = 290 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/PolyPhen}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Effect/In_Vitro}}" "{{VariantOnTranscript/Haplotype}}" "{{VariantOnTranscript/SIFT}}" "{{VariantOnTranscript/PolyPhen/Score}}" "{{VariantOnTranscript/Classification}}" "{{VariantOnTranscript/Protein/Domain}}" "{{VariantOnTranscript/Protein/CodonNr}}" "{{VariantOnTranscript/Exon_old}}" "{{VariantOnTranscript/Variant/Type}}" "{{VariantOnTranscript/Consequence/Predicted}}" "{{VariantOnTranscript/Screen/Method}}" "{{VariantOnTranscript/DNA/Legacy}}" "{{VariantOnTranscript/Protein/Legacy}}" "{{VariantOnTranscript/FunctionalAnalysis}}" "{{VariantOnTranscript/FunctionalAnalysis/Technique}}" "{{VariantOnTranscript/Predict/MutationTaster}}" "{{VariantOnTranscript/Grantham}}" "{{VariantOnTranscript/Predict/AGVGD}}" "{{VariantOnTranscript/Codon_change}}" "{{VariantOnTranscript/VariO/DNA}}" "{{VariantOnTranscript/VariO/Protein}}" "{{VariantOnTranscript/VariO/RNA}}" "{{VariantOnTranscript/CpG}}" "{{VariantOnTranscript/Enzyme/Kinase_activity}}" "{{VariantOnTranscript/mRNA_level}}" "{{VariantOnTranscript/Protein_level}}" "{{VariantOnTranscript/Conservation}}" "{{VariantOnTranscript/Predict/Splice}}" "{{VariantOnTranscript/FunctionalPrediction}}" "{{VariantOnTranscript/Published_as}}" "{{VariantOnTranscript/Protein/Stain}}" "{{VariantOnTranscript/Predict/CADD}}" "0000038933" "00010305" "70" "3401" "0" "3402" "0" "c.3401_3402del" "r.(?)" "p.(Gly1134Alafs*2)" "17" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038934" "00010305" "70" "4911" "0" "4921" "0" "c.4911_4921del" "r.(?)" "p.(Val1638Alafs*27)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038935" "00010305" "70" "5424" "0" "5424" "0" "c.5424C>A" "r.(?)" "p.(Tyr1808*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038936" "00010305" "70" "5624" "0" "5625" "0" "c.5624_5625del" "r.(?)" "p.(Gln1875Argfs*170)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038937" "00010305" "70" "5442" "0" "5445" "0" "c.5442_5445del" "r.(?)" "p.(Phe1815Alafs*8)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038938" "00010305" "70" "5209" "0" "5209" "0" "c.5209C>T" "r.(?)" "p.(Gln1737*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038939" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038940" "00010305" "70" "5115" "0" "5116" "0" "c.5115_5116del" "r.(?)" "p.(Tyr1706*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038941" "00010305" "70" "5731" "0" "5731" "0" "c. 5731C>T" "r.(?)" "p.(Gln1911*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038942" "00010305" "70" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Gln1768*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038943" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038944" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "16" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038945" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(spl?)" "p.(?)" "16" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038946" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "16" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038947" "00010305" "70" "4728" "0" "4729" "0" "c.4728_4729del" "r.(?)" "p.(Arg1577Cysfs*21)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038948" "00010305" "70" "4312" "0" "4312" "0" "c.4312del" "r.(?)" "p.(Glu1438Lysfs*23)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038949" "00010305" "70" "3366" "0" "3369" "0" "c.3366_3369del" "r.(?)" "p.(Lys1124Glyfs*5)" "17" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038950" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038951" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038952" "00010305" "70" "3064" "0" "3064" "0" "c.3064G>T" "r.(?)" "p.(Glu1022*)" "16" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038953" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038954" "00010305" "70" "3040" "0" "3040" "0" "c.3040C>T" "r.(?)" "p.(Gln1014*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038955" "00010305" "70" "4114" "0" "4114" "0" "c.4114G>T" "r.(?)" "p.(Glu1372*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038956" "00010305" "70" "5131" "0" "5131" "0" "c.5131del" "r.(?)" "p.(Ser1711Profs*4)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038957" "00010305" "70" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Gln1768*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038958" "00010305" "50" "2959" "0" "2959" "0" "c.2959T>C" "r.(?)" "p.(Trp987Arg)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038959" "00010305" "70" "4320" "0" "4321" "0" "c.4320_4321del" "r.(?)" "p.(Lys1441Glyfs*22)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038960" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038961" "00010305" "70" "4074" "0" "4079" "0" "c.4074_4079del" "r.(?)" "p.(Glu1367_Glu1368del)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038962" "00010305" "70" "3598" "0" "3622" "0" "c.3598_3622dup25" "r.(?)" "p.(Gly1208Glufs*19)" "17" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038963" "00010305" "70" "3962" "0" "3963" "0" "c.3962_3963del" "r.(?)" "p.(Gln1321Argfs*20)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038964" "00010305" "70" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038965" "00010305" "70" "5302" "0" "5302" "0" "c.5302C>T" "r.(?)" "p.(Gln1768*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038966" "00010305" "99" "4405" "0" "4405" "0" "c.4405dup" "r.(?)" "p.(Ser1469Phefs*18)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038967" "00010305" "99" "4069" "0" "4069" "0" "c.4069G>T" "r.(?)" "p.(Glu1357*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038968" "00010305" "99" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038969" "00010305" "99" "5734" "0" "5734" "0" "c.5734A>T" "r.(?)" "p.(Arg1912*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038970" "00010305" "99" "5030" "0" "5030" "0" "c.5030del" "r.(?)" "p.(Thr1677Metfs*38)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038971" "00010305" "99" "5201" "0" "5210" "0" "c.5201_5210dup" "r.(?)" "p.(Gln1737Hisfs*41)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038972" "00010305" "99" "5201" "0" "5210" "0" "c.5201_5210dup" "r.(?)" "p.(Gln1737Hisfs*41)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038973" "00010305" "99" "4205" "0" "4206" "0" "c.4205_4206del" "r.(?)" "p.(Ser1402Cysfs*5)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038974" "00010305" "99" "527" "0" "527" "0" "c.527dup" "r.(?)" "p.(Tyr176*)" "3" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038975" "00010305" "99" "4911" "0" "4921" "0" "c.4911_4921del" "r.(?)" "p.(Val1638Alafs*27)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038976" "00010305" "99" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038977" "00010305" "99" "3892" "0" "3892" "0" "c.3892G>T" "r.(?)" "p.(Gly1298*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038978" "00010305" "99" "3680" "0" "3695" "0" "c.3680_3695del" "r.(?)" "p.(Asp1227Glufs*11)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038979" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038980" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038981" "00010305" "99" "3877" "0" "3877" "0" "c.3877A>T" "r.(?)" "p.(Lys1293*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038982" "00010305" "99" "3773" "0" "3773" "0" "c.3773dup" "r.(?)" "p.(Trp1259Valfs*12)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038983" "00010305" "99" "621" "26310" "621" "26311" "t(10;13)(q22.3;q34)(c.621+26310_621+26311)" "r.0?" "p.0?" "3i" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038984" "00010305" "99" "3860" "0" "3863" "0" "c.3860_3863del" "r.(?)" "p.(Val1287Glufs*46)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038985" "00010305" "77" "5746" "0" "5746" "0" "c.5746C>T" "r.(?)" "p.(Gln1916*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038986" "00010305" "99" "5064" "0" "5071" "0" "c.5064_5071delinsCACA" "r.(?)" "p.(Met1690Glufs*24)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038987" "00010305" "99" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038988" "00010305" "99" "4360" "0" "4368" "0" "c.4360_4368delinsAAAAACCAAAA" "r.(?)" "p.(Glu1454Lysfs*8)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038989" "00010305" "99" "3802" "0" "3802" "0" "c.3802G>T" "r.(?)" "p.(Gly1268*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038990" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038991" "00010305" "99" "3788" "0" "3789" "0" "c.3788_3789del" "r.(?)" "p.(Lys1263Argfs*7)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038992" "00010305" "99" "3769" "0" "3772" "0" "c.3769_3772del" "r.(?)" "p.(Lys1258Glyfs*13)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038993" "00010305" "99" "5370" "0" "5373" "0" "c.5370_5373dup" "r.(?)" "p.(Ile1792Glnfs*12)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000038994" "00010305" "99" "3018" "0" "3018" "0" "c.3018del" "r.(?)" "p.(Glu1007Argfs*5)" "15" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079337" "00023816" "00" "-615279" "0" "1741730" "0" "c.-615279_*1736057del" "r.?" "p.?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079337" "00023817" "00" "-615279" "0" "1741403" "0" "c.-615279_*1736057del" "r.?" "p.?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079337" "00010305" "00" "-615279" "0" "1742279" "0" "c.-615279_*1736057del" "r.?" "p.?" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079432" "00023816" "00" "5324" "0" "5324" "0" "c.5324delinsC" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079432" "00023817" "00" "4997" "0" "4997" "0" "c.4997delinsC" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079432" "00010305" "00" "5873" "0" "5873" "0" "c.5873delinsC" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079553" "00023816" "00" "4492" "0" "4492" "0" "c.4492G>A" "r.(?)" "p.(Glu1498Lys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079553" "00023817" "00" "4165" "0" "4165" "0" "c.4165G>A" "r.(?)" "p.(Glu1389Lys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079553" "00010305" "00" "5041" "0" "5041" "0" "c.5041G>A" "r.(?)" "p.(Glu1681Lys)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079566" "00023816" "00" "4466" "0" "4466" "0" "c.4466G>C" "r.(?)" "p.(Ser1489Thr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079566" "00023817" "00" "4139" "0" "4139" "0" "c.4139G>C" "r.(?)" "p.(Ser1380Thr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000079566" "00010305" "00" "5015" "0" "5015" "0" "c.5015G>C" "r.(?)" "p.(Ser1672Thr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130191" "00023816" "70" "3547" "0" "3547" "0" "c.3547G>T" "r.(?)" "p.(Glu1183*)" "" "" "" "" "" "" "" "ACMG 4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130191" "00023817" "70" "3220" "0" "3220" "0" "c.3220G>T" "r.(?)" "p.(Glu1074*)" "" "" "" "" "" "" "" "ACMG 4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000130191" "00010305" "70" "4096" "0" "4096" "0" "c.4096G>T" "r.(?)" "p.(Glu1366*)" "" "" "" "" "" "" "" "ACMG 4" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249460" "00023816" "30" "1282" "0" "1282" "0" "c.1282A>C" "r.(?)" "p.(Asn428His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249460" "00023817" "30" "1117" "165" "1117" "165" "c.1117+165A>C" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000249460" "00010305" "30" "1282" "0" "1282" "0" "c.1282A>C" "r.(?)" "p.(Asn428His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281698" "00023816" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281698" "00023817" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281698" "00010305" "90" "1006" "0" "1006" "0" "c.1006C>T" "r.(?)" "p.(Arg336*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281699" "00023816" "50" "1993" "0" "1993" "0" "c.1993C>T" "r.(?)" "p.(Leu665Phe)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281699" "00023817" "50" "1666" "0" "1666" "0" "c.1666C>T" "r.(?)" "p.(Leu556Phe)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281699" "00010305" "50" "2542" "0" "2542" "0" "c.2542C>T" "r.(?)" "p.(Leu848Phe)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281700" "00023816" "30" "2671" "0" "2682" "0" "c.2671_2682del" "r.(?)" "p.(Asp894_Glu897del)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281700" "00023817" "30" "2344" "0" "2355" "0" "c.2344_2355del" "r.(?)" "p.(Asp785_Glu788del)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281700" "00010305" "30" "3220" "0" "3231" "0" "c.3220_3231del" "r.(?)" "p.(Asp1077_Glu1080del)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281701" "00023816" "10" "2740" "0" "2742" "0" "c.2740_2742del" "r.(?)" "p.(Glu921del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281701" "00023817" "10" "2413" "0" "2415" "0" "c.2413_2415del" "r.(?)" "p.(Glu812del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281701" "00010305" "10" "3289" "0" "3291" "0" "c.3289_3291del" "r.(?)" "p.(Glu1104del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281702" "00023816" "10" "3529" "0" "3537" "0" "c.3529_3537del" "r.(?)" "p.(Glu1183_Glu1185del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281702" "00023817" "10" "3202" "0" "3210" "0" "c.3202_3210del" "r.(?)" "p.(Glu1074_Glu1076del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281702" "00010305" "10" "4078" "0" "4086" "0" "c.4078_4086del" "r.(?)" "p.(Glu1366_Glu1368del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281703" "00023816" "10" "3528" "0" "3529" "0" "c.3528_3529insAAGAGGAAG" "r.(?)" "p.(Glu1176_Glu1177insLysArgLys)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281703" "00023817" "10" "3201" "0" "3202" "0" "c.3201_3202insAAGAGGAAG" "r.(?)" "p.(Glu1067_Glu1068insLysArgLys)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000281703" "00010305" "10" "4077" "0" "4078" "0" "c.4077_4078insAAGAGGAAG" "r.(?)" "p.(Glu1359_Glu1360insLysArgLys)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000285462" "00023816" "30" "3555" "0" "3556" "0" "c.3555_3556insAAGAGGAAG" "r.(?)" "p.(Glu1185_Gly1186insLysArgLys)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000285462" "00023817" "30" "3228" "0" "3229" "0" "c.3228_3229insAAGAGGAAG" "r.(?)" "p.(Glu1076_Gly1077insLysArgLys)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000285462" "00010305" "30" "4104" "0" "4105" "0" "c.4104_4105insAAGAGGAAG" "r.(?)" "p.(Glu1368_Gly1369insLysArgLys)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290004" "00023816" "50" "2371" "0" "2371" "0" "c.2371T>C" "r.(?)" "p.(Cys791Arg)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290004" "00023817" "50" "2044" "0" "2044" "0" "c.2044T>C" "r.(?)" "p.(Cys682Arg)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290004" "00010305" "50" "2920" "0" "2920" "0" "c.2920T>C" "r.(?)" "p.(Cys974Arg)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290005" "00023816" "10" "2740" "0" "2742" "0" "c.2740_2742del" "r.(?)" "p.(Glu921del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290005" "00023817" "10" "2413" "0" "2415" "0" "c.2413_2415del" "r.(?)" "p.(Glu812del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290005" "00010305" "10" "3289" "0" "3291" "0" "c.3289_3291del" "r.(?)" "p.(Glu1104del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290006" "00023816" "10" "2741" "0" "2742" "0" "c.2741_2742insGAA" "r.(?)" "p.(Glu914_Glu915insLys)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290006" "00023817" "10" "2414" "0" "2415" "0" "c.2414_2415insGAA" "r.(?)" "p.(Glu805_Glu806insLys)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290006" "00010305" "10" "3290" "0" "3291" "0" "c.3290_3291insGAA" "r.(?)" "p.(Glu1097_Glu1098insLys)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290007" "00023816" "70" "4861" "0" "4861" "0" "c.4861del" "r.(?)" "p.(Ala1622Leufs*19)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290007" "00023817" "70" "4534" "0" "4534" "0" "c.4534del" "r.(?)" "p.(Ala1513Leufs*19)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290007" "00010305" "70" "5410" "0" "5410" "0" "c.5410del" "r.(?)" "p.(Ala1805Leufs*19)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290008" "00023816" "90" "4864" "0" "4864" "0" "c.4864del" "r.(?)" "p.(Ala1622Leufs*19)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290008" "00023817" "90" "4537" "0" "4537" "0" "c.4537del" "r.(?)" "p.(Ala1513Leufs*19)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000290008" "00010305" "90" "5413" "0" "5413" "0" "c.5413del" "r.(?)" "p.(Ala1805Leufs*19)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321618" "00023816" "30" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Phe88Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321618" "00023817" "30" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Phe88Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321618" "00010305" "30" "262" "0" "262" "0" "c.262T>G" "r.(?)" "p.(Phe88Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321619" "00023816" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321619" "00023817" "30" "1117" "6" "1117" "6" "c.1117+6G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321619" "00010305" "30" "1123" "0" "1123" "0" "c.1123G>A" "r.(?)" "p.(Gly375Ser)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321620" "00023816" "30" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321620" "00023817" "30" "1117" "322" "1117" "322" "c.1117+322C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321620" "00010305" "30" "1439" "0" "1439" "0" "c.1439C>T" "r.(?)" "p.(Ala480Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321621" "00023816" "30" "1444" "24" "1444" "24" "c.1444+24C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321621" "00023817" "30" "1117" "351" "1117" "351" "c.1117+351C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321621" "00010305" "30" "1468" "0" "1468" "0" "c.1468C>T" "r.(?)" "p.(Pro490Ser)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321622" "00023816" "30" "2740" "0" "2742" "0" "c.2740_2742dup" "r.(?)" "p.(Glu921dup)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321622" "00023817" "30" "2413" "0" "2415" "0" "c.2413_2415dup" "r.(?)" "p.(Glu812dup)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321622" "00010305" "30" "3289" "0" "3291" "0" "c.3289_3291dup" "r.(?)" "p.(Glu1104dup)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321623" "00023816" "30" "3100" "0" "3100" "0" "c.3100G>T" "r.(?)" "p.(Ala1034Ser)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321623" "00023817" "30" "2773" "0" "2773" "0" "c.2773G>T" "r.(?)" "p.(Ala925Ser)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321623" "00010305" "30" "3649" "0" "3649" "0" "c.3649G>T" "r.(?)" "p.(Ala1217Ser)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321624" "00023816" "30" "3487" "0" "3487" "0" "c.3487G>T" "r.(?)" "p.(Asp1163Tyr)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321624" "00023817" "30" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Asp1054Tyr)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321624" "00010305" "30" "4036" "0" "4036" "0" "c.4036G>T" "r.(?)" "p.(Asp1346Tyr)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321625" "00023816" "50" "3487" "0" "3487" "0" "c.3487G>T" "r.(?)" "p.(Asp1163Tyr)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321625" "00023817" "50" "3160" "0" "3160" "0" "c.3160G>T" "r.(?)" "p.(Asp1054Tyr)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321625" "00010305" "50" "4036" "0" "4036" "0" "c.4036G>T" "r.(?)" "p.(Asp1346Tyr)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321626" "00023816" "50" "3514" "0" "3519" "0" "c.3514_3519del" "r.(?)" "p.(Glu1184_Glu1185del)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321626" "00023817" "50" "3187" "0" "3192" "0" "c.3187_3192del" "r.(?)" "p.(Glu1075_Glu1076del)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321626" "00010305" "50" "4063" "0" "4068" "0" "c.4063_4068del" "r.(?)" "p.(Glu1367_Glu1368del)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321627" "00023816" "50" "3548" "0" "3556" "0" "c.3548_3556dup" "r.(?)" "p.(Glu1183_Glu1185dup)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321627" "00023817" "50" "3221" "0" "3229" "0" "c.3221_3229dup" "r.(?)" "p.(Glu1074_Glu1076dup)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321627" "00010305" "50" "4097" "0" "4105" "0" "c.4097_4105dup" "r.(?)" "p.(Glu1366_Glu1368dup)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321628" "00023816" "30" "3929" "0" "3929" "0" "c.3929C>T" "r.(?)" "p.(Ala1310Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321628" "00023817" "30" "3602" "0" "3602" "0" "c.3602C>T" "r.(?)" "p.(Ala1201Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321628" "00010305" "30" "4478" "0" "4478" "0" "c.4478C>T" "r.(?)" "p.(Ala1493Val)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321629" "00023816" "30" "4084" "0" "4084" "0" "c.4084G>A" "r.(?)" "p.(Val1362Ile)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321629" "00023817" "30" "3757" "0" "3757" "0" "c.3757G>A" "r.(?)" "p.(Val1253Ile)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321629" "00010305" "30" "4633" "0" "4633" "0" "c.4633G>A" "r.(?)" "p.(Val1545Ile)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321630" "00023816" "30" "4286" "0" "4286" "0" "c.4286G>A" "r.(?)" "p.(Arg1429His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321630" "00023817" "30" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321630" "00010305" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321631" "00023816" "30" "4778" "0" "4778" "0" "c.4778C>A" "r.(?)" "p.(Thr1593Asn)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321631" "00023817" "30" "4451" "0" "4451" "0" "c.4451C>A" "r.(?)" "p.(Thr1484Asn)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321631" "00010305" "30" "5327" "0" "5327" "0" "c.5327C>A" "r.(?)" "p.(Thr1776Asn)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321632" "00023816" "70" "5618" "0" "5618" "0" "c.5618A>G" "r.(?)" "p.(Tyr1873Cys)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321632" "00023817" "70" "5291" "0" "5291" "0" "c.5291A>G" "r.(?)" "p.(Tyr1764Cys)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000321632" "00010305" "70" "6167" "0" "6167" "0" "c.6167A>G" "r.(?)" "p.(Tyr2056Cys)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338738" "00023816" "50" "928" "0" "928" "0" "c.928G>C" "r.(?)" "p.(Gly310Arg)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338738" "00023817" "50" "928" "0" "928" "0" "c.928G>C" "r.(?)" "p.(Gly310Arg)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338738" "00010305" "50" "928" "0" "928" "0" "c.928G>C" "r.(?)" "p.(Gly310Arg)" "" "" "" "" "" "" "" "VUS" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338739" "00023816" "10" "929" "-12" "929" "-12" "c.929-12A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338739" "00023817" "10" "929" "-12" "929" "-12" "c.929-12A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338739" "00010305" "10" "929" "-12" "929" "-12" "c.929-12A>G" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338740" "00023816" "90" "3116" "-1" "3116" "-1" "c.3116-1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338740" "00023817" "90" "2789" "-1" "2789" "-1" "c.2789-1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000338740" "00010305" "90" "3665" "-1" "3665" "-1" "c.3665-1G>A" "r.spl?" "p.?" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340444" "00023817" "30" "375" "0" "375" "0" "c.375C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340444" "00010305" "30" "375" "0" "375" "0" "c.375C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340445" "00023816" "10" "3729" "0" "3729" "0" "c.3729C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340445" "00023817" "10" "3402" "0" "3402" "0" "c.3402C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000340445" "00010305" "10" "4278" "0" "4278" "0" "c.4278C>T" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000341684" "00023816" "90" "2623" "0" "2623" "0" "c.2623C>T" "r.(?)" "p.(Arg875*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000341684" "00023817" "90" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Arg766*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000341684" "00010305" "90" "3172" "0" "3172" "0" "c.3172C>T" "r.(?)" "p.(Arg1058*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342018" "00023816" "30" "4286" "0" "4286" "0" "c.4286G>A" "r.(?)" "p.(Arg1429His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342018" "00023817" "30" "3959" "0" "3959" "0" "c.3959G>A" "r.(?)" "p.(Arg1320His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342018" "00010305" "30" "4835" "0" "4835" "0" "c.4835G>A" "r.(?)" "p.(Arg1612His)" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342668" "00023816" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342668" "00023817" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342668" "00010305" "90" "1009" "0" "1009" "0" "c.1009C>T" "r.(?)" "p.(Arg337*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342689" "00023816" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342689" "00023817" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000342689" "00010305" "70" "1030" "0" "1030" "0" "c.1030C>T" "r.(?)" "p.(Arg344*)" "" "" "" "" "" "" "" "likely pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000343359" "00023816" "90" "1798" "0" "1798" "0" "c.1798C>T" "r.(?)" "p.(Arg600*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000343359" "00023817" "90" "1471" "0" "1471" "0" "c.1471C>T" "r.(?)" "p.(Arg491*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000343359" "00010305" "90" "2347" "0" "2347" "0" "c.2347C>T" "r.(?)" "p.(Arg783*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344506" "00023816" "90" "2800" "0" "2801" "0" "c.2800_2801del" "r.(?)" "p.(Gln934Valfs*19)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344506" "00023817" "90" "2473" "0" "2474" "0" "c.2473_2474del" "r.(?)" "p.(Gln825Valfs*19)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344506" "00010305" "90" "3349" "0" "3350" "0" "c.3349_3350del" "r.(?)" "p.(Gln1117Valfs*19)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344538" "00023816" "90" "3413" "0" "3414" "0" "c.3413_3414del" "r.(?)" "p.(Gln1138Argfs*20)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344538" "00023817" "90" "3086" "0" "3087" "0" "c.3086_3087del" "r.(?)" "p.(Gln1029Argfs*20)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000344538" "00010305" "90" "3962" "0" "3963" "0" "c.3962_3963del" "r.(?)" "p.(Gln1321Argfs*20)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345051" "00023816" "90" "2692" "0" "2692" "0" "c.2692G>T" "r.(?)" "p.(Glu898*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345051" "00023817" "90" "2365" "0" "2365" "0" "c.2365G>T" "r.(?)" "p.(Glu789*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345051" "00010305" "90" "3241" "0" "3241" "0" "c.3241G>T" "r.(?)" "p.(Glu1081*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345052" "00023816" "90" "2709" "0" "2709" "0" "c.2709del" "r.(?)" "p.(Glu904Argfs*27)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345052" "00023817" "90" "2382" "0" "2382" "0" "c.2382del" "r.(?)" "p.(Glu795Argfs*27)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345052" "00010305" "90" "3258" "0" "3258" "0" "c.3258del" "r.(?)" "p.(Glu1087Argfs*27)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345121" "00023816" "10" "3548" "0" "3556" "0" "c.3548_3556del" "r.(?)" "p.(Glu1183_Glu1185del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345121" "00023817" "10" "3221" "0" "3229" "0" "c.3221_3229del" "r.(?)" "p.(Glu1074_Glu1076del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000345121" "00010305" "10" "4097" "0" "4105" "0" "c.4097_4105del" "r.(?)" "p.(Glu1366_Glu1368del)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346902" "00023816" "90" "3830" "0" "3830" "0" "c.3830del" "r.(?)" "p.(Leu1277*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346902" "00023817" "90" "3503" "0" "3503" "0" "c.3503del" "r.(?)" "p.(Leu1168*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000346902" "00010305" "90" "4379" "0" "4379" "0" "c.4379del" "r.(?)" "p.(Leu1460*)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347392" "00023816" "90" "3239" "0" "3240" "0" "c.3239_3240del" "r.(?)" "p.(Lys1080Argfs*7)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347392" "00023817" "90" "2912" "0" "2913" "0" "c.2912_2913del" "r.(?)" "p.(Lys971Argfs*7)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347392" "00010305" "90" "3788" "0" "3789" "0" "c.3788_3789del" "r.(?)" "p.(Lys1263Argfs*7)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347753" "00023816" "90" "4053" "0" "4053" "0" "c.4053del" "r.(?)" "p.(Met1352Trpfs*14)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347753" "00023817" "90" "3726" "0" "3726" "0" "c.3726del" "r.(?)" "p.(Met1243Trpfs*14)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000347753" "00010305" "90" "4602" "0" "4602" "0" "c.4602del" "r.(?)" "p.(Met1535Trpfs*14)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349641" "00023816" "90" "1940" "0" "1940" "0" "c.1940del" "r.(?)" "p.(Thr647Lysfs*29)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349641" "00023817" "90" "1613" "0" "1613" "0" "c.1613del" "r.(?)" "p.(Thr538Lysfs*29)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349641" "00010305" "90" "2489" "0" "2489" "0" "c.2489del" "r.(?)" "p.(Thr830Lysfs*29)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349682" "00023816" "90" "3224" "0" "3224" "0" "c.3224dup" "r.(?)" "p.(Trp1076Valfs*12)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349682" "00023817" "90" "2897" "0" "2897" "0" "c.2897dup" "r.(?)" "p.(Trp967Valfs*12)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000349682" "00010305" "90" "3773" "0" "3773" "0" "c.3773dup" "r.(?)" "p.(Trp1259Valfs*12)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350305" "00023816" "10" "3946" "0" "3946" "0" "c.3946G>A" "r.(?)" "p.(Val1316Ile)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350305" "00023817" "10" "3619" "0" "3619" "0" "c.3619G>A" "r.(?)" "p.(Val1207Ile)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350305" "00010305" "10" "4495" "0" "4495" "0" "c.4495G>A" "r.(?)" "p.(Val1499Ile)" "" "" "" "" "" "" "" "benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350333" "00023816" "90" "4362" "0" "4372" "0" "c.4362_4372del" "r.(?)" "p.(Val1455Alafs*27)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350333" "00023817" "90" "4035" "0" "4045" "0" "c.4035_4045del" "r.(?)" "p.(Val1346Alafs*27)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000350333" "00010305" "90" "4911" "0" "4921" "0" "c.4911_4921del" "r.(?)" "p.(Val1638Alafs*27)" "" "" "" "" "" "" "" "pathogenic" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351368" "00023816" "30" "2472" "3" "2472" "3" "c.2472+3A>G" "r.spl?" "p.?" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351368" "00023817" "30" "2145" "3" "2145" "3" "c.2145+3A>G" "r.spl?" "p.?" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000351368" "00010305" "30" "3021" "3" "3021" "3" "c.3021+3A>G" "r.spl?" "p.?" "" "" "" "" "" "" "" "likely benign" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400747" "00023816" "00" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400747" "00023817" "00" "4513" "0" "4513" "0" "c.4513C>T" "r.(?)" "p.(Arg1505*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400747" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400748" "00023816" "70" "4943" "0" "4943" "0" "c.4943C>G" "r.(?)" "p.(Ser1648*)" "18" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400752" "00023816" "00" "3622" "0" "3622" "0" "c.3622G>T" "r.(?)" "p.(Glu1208*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400752" "00023817" "00" "3295" "0" "3295" "0" "c.3295G>T" "r.(?)" "p.(Glu1099*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400752" "00010305" "70" "4171" "0" "4171" "0" "c.4171G>T" "r.(?)" "p.(Glu1391*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400755" "00023816" "00" "3052" "0" "3054" "0" "c.3052_3054del" "r.(?)" "p.(Arg1018del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400755" "00023817" "00" "2725" "0" "2727" "0" "c.2725_2727del" "r.(?)" "p.(Arg909del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400755" "00010305" "70" "3601" "0" "3603" "0" "c.3601_3603del" "r.(?)" "p.(Arg1201del)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400757" "00023816" "70" "4943" "0" "4943" "0" "c.4943C>G" "r.(?)" "p.(Ser1648*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400757" "00023817" "00" "4616" "0" "4616" "0" "c.4616C>G" "r.(?)" "p.(Ser1539*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400757" "00010305" "00" "5492" "0" "5492" "0" "c.5492C>G" "r.(?)" "p.(Ser1831*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400758" "00023816" "00" "2087" "0" "2087" "0" "c.2087T>A" "r.(?)" "p.(Leu696*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400758" "00023817" "00" "1760" "0" "1760" "0" "c.1760T>A" "r.(?)" "p.(Leu587*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400758" "00010305" "70" "2636" "0" "2636" "0" "c.2636T>A" "r.(?)" "p.(Leu879*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400759" "00023816" "00" "3622" "0" "3622" "0" "c.3622G>T" "r.(?)" "p.(Glu1208*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400759" "00023817" "00" "3295" "0" "3295" "0" "c.3295G>T" "r.(?)" "p.(Glu1099*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000400759" "00010305" "70" "4171" "0" "4171" "0" "c.4171G>T" "r.(?)" "p.(Glu1391*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401437" "00023816" "00" "3187" "0" "3187" "0" "c.3187C>T" "r.(?)" "p.(Gln1063*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401437" "00023817" "00" "2860" "0" "2860" "0" "c.2860C>T" "r.(?)" "p.(Gln954*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401437" "00010305" "70" "3736" "0" "3736" "0" "c.3736C>T" "r.(?)" "p.(Gln1246*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401438" "00023816" "00" "4652" "0" "4661" "0" "c.4652_4661dupTGCTGCAGCA" "r.(?)" "p.(Gln1554Hisfs*41)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401438" "00023817" "00" "4325" "0" "4334" "0" "c.4325_4334dupTGCTGCAGCA" "r.(?)" "p.(Gln1445Hisfs*41)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401438" "00010305" "70" "5201" "0" "5210" "0" "c.5201_5210dupTGCTGCAGCA" "r.(?)" "p.(Gln1737Hisfs*41)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401439" "00023816" "00" "4515" "0" "4522" "0" "c.4515_4522delinsCACA" "r.(?)" "p.(Met1507Glufs*24)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401439" "00023817" "00" "4188" "0" "4195" "0" "c.4188_4195delinsCACA" "r.(?)" "p.(Met1398Glufs*24)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401439" "00010305" "70" "5064" "0" "5071" "0" "c.5064_5071delinsCACA" "r.(?)" "p.(Met1690Glufs*24)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401440" "00023816" "00" "4840" "0" "4840" "0" "c.4840C>T" "r.(?)" "p.(Arg1614*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401440" "00023817" "00" "4513" "0" "4513" "0" "c.4513C>T" "r.(?)" "p.(Arg1505*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401440" "00010305" "70" "5389" "0" "5389" "0" "c.5389C>T" "r.(?)" "p.(Arg1797*)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401441" "00023816" "00" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(His584Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401441" "00023817" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401441" "00010305" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(His767Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401442" "00023816" "00" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(His584Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401442" "00023817" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401442" "00010305" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(His767Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401443" "00023816" "00" "1750" "0" "1750" "0" "c.1750C>T" "r.(?)" "p.(His584Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401443" "00023817" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(His475Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401443" "00010305" "70" "2299" "0" "2299" "0" "c.2299C>T" "r.(?)" "p.(His767Tyr)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401444" "00023816" "00" "1045" "0" "1049" "0" "c.1045_1049delTTAAA" "r.(?)" "p.(Leu349Alafs*9)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401444" "00023817" "00" "1045" "0" "1049" "0" "c.1045_1049delTTAAA" "r.(?)" "p.(Leu349Alafs*9)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401444" "00010305" "70" "1045" "0" "1049" "0" "c.1045_1049delTTAAA" "r.(?)" "p.(Leu349Alafs*9)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401445" "00023816" "00" "4043" "0" "4043" "0" "c.4043delA" "r.(?)" "p.(Asn1348Thrfs*18)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401445" "00023817" "00" "3716" "0" "3716" "0" "c.3716delA" "r.(?)" "p.(Asn1239Thrfs*18)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401445" "00010305" "70" "4592" "0" "4592" "0" "c.4592delA" "r.(?)" "p.(Asn1531Thrfs*18)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401446" "00023816" "00" "2598" "0" "2598" "0" "c.2598G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401446" "00023817" "00" "2271" "0" "2271" "0" "c.2271G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401446" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401447" "00023816" "00" "2598" "0" "2598" "0" "c.2598G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401447" "00023817" "00" "2271" "0" "2271" "0" "c.2271G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401447" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401448" "00023816" "00" "2598" "0" "2598" "0" "c.2598G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401448" "00023817" "00" "2271" "0" "2271" "0" "c.2271G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401448" "00010305" "70" "3147" "0" "3147" "0" "c.3147G>A" "r.(=)" "p.(=)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401449" "00023816" "00" "4023" "0" "4023" "0" "c.4023dupT" "r.(?)" "p.(Thr1342Tyrfs*16)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401449" "00023817" "00" "3696" "0" "3696" "0" "c.3696dupT" "r.(?)" "p.(Thr1233Tyrfs*16)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401449" "00010305" "70" "4572" "0" "4572" "0" "c.4572dupT" "r.(?)" "p.(Thr1525Tyrfs*16)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401450" "00023816" "00" "3656" "0" "3657" "0" "c.3656_3657delCT" "r.(?)" "p.(Ser1219Cysfs*5)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401450" "00023817" "00" "3329" "0" "3330" "0" "c.3329_3330delCT" "r.(?)" "p.(Ser1110Cysfs*5)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000401450" "00010305" "70" "4205" "0" "4206" "0" "c.4205_4206delCT" "r.(?)" "p.(Ser1402Cysfs*5)" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 79 "{{screeningid}}" "{{variantid}}" "0000018467" "0000038933" "0000018469" "0000038935" "0000018470" "0000038936" "0000018472" "0000038938" "0000018475" "0000038941" "0000018476" "0000038942" "0000018477" "0000038943" "0000018478" "0000038944" "0000018479" "0000038945" "0000018480" "0000038946" "0000018481" "0000038947" "0000018482" "0000038948" "0000018483" "0000038949" "0000018484" "0000038950" "0000018485" "0000038951" "0000018486" "0000038952" "0000018488" "0000038954" "0000018489" "0000038955" "0000018490" "0000038956" "0000018491" "0000038957" "0000018493" "0000038959" "0000018496" "0000038962" "0000018497" "0000038963" "0000018498" "0000038964" "0000018499" "0000038965" "0000018500" "0000038966" "0000018501" "0000038967" "0000018502" "0000038968" "0000018503" "0000038969" "0000018504" "0000038970" "0000018505" "0000038971" "0000018506" "0000038972" "0000018507" "0000038973" "0000018508" "0000038974" "0000018509" "0000038975" "0000018510" "0000038976" "0000018511" "0000038977" "0000018512" "0000038978" "0000018513" "0000038979" "0000018514" "0000038980" "0000018515" "0000038981" "0000018516" "0000038982" "0000018517" "0000038983" "0000018518" "0000038984" "0000018519" "0000038985" "0000018520" "0000038986" "0000018521" "0000038987" "0000018522" "0000038988" "0000018523" "0000038989" "0000018524" "0000038990" "0000018525" "0000038991" "0000018526" "0000038992" "0000018527" "0000038993" "0000018528" "0000038994" "0000050357" "0000079337" "0000050452" "0000079432" "0000050573" "0000079553" "0000050586" "0000079566" "0000081105" "0000130191" "0000177876" "0000400747" "0000177879" "0000400755" "0000177880" "0000400752" "0000177883" "0000400757" "0000177884" "0000400758" "0000177885" "0000400759" "0000177993" "0000401437" "0000177994" "0000401438" "0000177995" "0000401439" "0000177996" "0000401440" "0000177997" "0000401441" "0000177998" "0000401442" "0000177999" "0000401443" "0000178000" "0000401444" "0000178001" "0000401445" "0000178002" "0000401446" "0000178003" "0000401447" "0000178004" "0000401448" "0000178005" "0000401449" "0000178007" "0000401450"