### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = PAH) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "PAH" "phenylalanine hydroxylase" "12" "q22-q24.2" "unknown" "NG_008690.2" "UD_129191646546" "" "https://www.LOVD.nl/PAH" "Phenylalanine Hhydroxylase gene locus-specific database (PAHvdb) " "1" "8582" "5053" "612349" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "http://databases.lovd.nl/shared/refseq/PAH_codingDNA.html" "1" "" "" "-1" "" "-1" "00002" "2011-04-05 00:00:00" "00006" "2022-12-06 17:16:27" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000005" "PAH" "phenylalanine hydroxylase" "001" "NM_000277.1" "" "NP_000268.1" "" "" "" "-473" "2208" "1359" "103311381" "103232104" "00002" "2012-05-11 13:11:48" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 12 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00138" "autism" "autism" "" "209850" "" "" "" "00084" "2013-06-04 18:17:33" "00006" "2015-12-08 23:54:35" "00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "00221" "PKU" "phenylketonuria (PKU)" "AR" "261600" "" "" "" "00006" "2013-10-07 22:30:26" "00006" "2019-11-30 12:07:59" "02256" "OTCD" "deficiency, ornithine carbamoyltransferase (OTCD)" "XLR" "311250" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02554" "metabolic syndrome" "metabolic syndrome" "" "" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2019-01-15 15:48:08" "04214" "-" "retinal disease" "" "" "" "" "" "00006" "2015-02-27 19:48:07" "00001" "2023-03-09 14:26:26" "04217" "WEST" "West syndrome (WEST, epileptic encephalopathy, early infantile)" "" "" "" "" "" "00006" "2015-03-06 11:05:39" "" "" "05123" "SMA" "atrophy, muscular, spinal (SMA)" "" "" "" "" "" "00006" "2016-01-24 01:41:54" "" "" "05378" "BMD/DMD" "dystrophinopathy (BMD or DMD)" "" "" "" "" "" "00006" "2018-01-13 20:18:25" "00006" "2019-03-26 16:49:54" "05683" "HPA" "hyperphenylalaninemia (HPA)" "AD" "" "" "" "" "00006" "2020-01-06 17:35:01" "00006" "2021-12-10 21:51:32" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "PAH" "00221" ## Individuals ## Do not remove or alter this header ## ## Count = 2679 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00000007" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000010" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000013" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000022" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000025" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "0" "" "" "" "" "00000071" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00000097" "" "" "" "1" "" "00004" "{PMID:Bell 2011:21228398}" "" "" "" "" "" "" "" "" "" "" "00003036" "" "" "" "1" "" "00006" "{PMID:Sterl 2013:22526846}" "" "" "" "Austria" "" "0" "" "" "" "" "00025488" "" "" "" "1" "" "01168" "{PMID:Ajami 2013:24301756}, {DOI:Ajami 2013:10.4238/2013.October.24.7}" "" "F" "yes" "Iran" "" "0" "" "" "Arab" "" "00181048" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181050" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00181072" "" "" "" "1" "" "02568" "" "" "" "" "" "" "" "" "" "" "" "00267035" "" "" "" "1" "" "03461" "" "" "F" "" "Argentina" "" "0" "" "" "" "" "00290572" "" "" "" "85" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290573" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290574" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290575" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290576" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290577" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290578" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290579" "" "" "" "0" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290580" "" "" "" "3" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290581" "" "" "" "2" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290582" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290583" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290584" "" "" "" "13" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00290585" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00304327" "" "" "" "1" "" "03575" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "analysis 2794 individuals (India)" "" "" "India" "" "0" "" "" "" "" "00307759" "" "" "" "1" "" "00006" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "F" "" "" "" "0" "" "" "" "UK10K_FINDWGA5411524" "00309846" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M002" "00309847" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M003" "00309848" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M004" "00309849" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M005" "00309851" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M007" "00309854" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M010" "00309855" "" "" "" "1" "" "00006" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "new-born screening" "" "" "United States" "" "0" "" "" "" "M011" "00327547" "" "" "" "5" "" "00006" "{PMID:Beck 2014:25044745}" "2-generation family, 5 affected (2F, 3M)" "F;M" "yes" "Iraq" "" "0" "" "" "" "family" "00395953" "" "" "" "1" "" "00006" "{PMID:Razaq 2021:34869784}" "" "M" "no" "United States" "" "0" "" "" "Middle East;Hispanic" "patient" "00401297" "" "" "" "1" "" "02494" "" "" "M" "no" "Spain" "" "" "" "" "" "038P" "00401668" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat01" "00401669" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat02" "00401670" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat03" "00401671" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat04" "00401672" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat05" "00401673" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat07" "00401674" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat08" "00401675" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat09" "00401676" "" "" "" "1" "" "00006" "{PMID:Jin 2021:34747549}" "" "" "" "United States" "" "0" "" "" "" "Pat10" "00405979" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "F" "no" "Mexico" "" "0" "" "nutritional treatment" "Chihuahua" "Pat46" "00405980" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "patient adopted" "M" "?" "Mexico" "" "0" "" "nutritional treatment" "Veracruz" "Pat72" "00405981" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "M" "no" "Mexico" "" "0" "" "nutritional treatment" "Veracruz" "Pat88" "00406084" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat1" "00406085" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "CDMX" "Pat2" "00406086" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat3" "00406087" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat4" "00406088" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat5" "00406089" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Jalisco" "Pat6" "00406090" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat7" "00406091" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat8" "00406092" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Edo Mex" "Pat9" "00406093" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Jalisco" "Pat10" "00406094" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Puebla" "Pat11" "00406095" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat12" "00406096" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Aguascalientes" "Pat13" "00406097" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat14" "00406098" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Edo Mex" "Pat15" "00406099" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Baja California Sur" "Pat16" "00406100" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat17" "00406101" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Guanajuato" "Pat18" "00406102" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Guanajuato" "Pat19" "00406103" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Yucatan" "Pat20" "00406104" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Jalisco" "Pat21" "00406105" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Jalisco" "Pat22" "00406106" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Baja California" "Pat23" "00406107" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Jalisco" "Pat24" "00406108" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "CDMX" "Pat25" "00406109" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Jalisco" "Pat26" "00406110" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Puebla" "Pat27" "00406111" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Puebla" "Pat28" "00406112" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, 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2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Aguascalientes" "Pat101" "00406182" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Michoacan" "Pat102" "00406183" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Morelos" "Pat103" "00406184" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Tabasco" "Pat104" "00406185" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Chihuahua" "Pat105" "00406186" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "CDMX" "Pat106" "00406187" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Guerrero" "Pat107" "00406188" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "CDMX" "Pat108" "00406189" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Chihuahua" "Pat109" "00406190" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Veracruz" "Pat110" "00406191" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Hidalgo" "Pat111" "00406192" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Hidalgo" "Pat112" "00406193" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Chihuahua" "Pat113" "00406194" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Chiapas" "Pat114" "00406195" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Veracruz" "Pat115" "00406196" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Oaxaca" "Pat116" "00406197" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "CDMX" "Pat117" "00406198" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Guerrero" "Pat118" "00406199" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Michoacan" "Pat119" "00406200" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Edo Mex" "Pat120" "00406201" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Michoacan" "Pat121" "00406202" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Tabasco" "Pat122" "00406203" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "M" "" "Mexico" "" "0" "" "" "Guanajuato" "Pat123" "00406204" "" "" "" "1" "" "04289" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "analysis 124 unelated patients" "F" "" "Mexico" "" "0" "" "" "Queretaro" "Pat124" "00419653" "" "" "" "1" "" "02300" "{PMID:Marinakis 2021:34008892}" "" "M" "" "Greece" "" "0" "" "" "" "20079" "00419977" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-1" "00419978" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-2" "00419979" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-3" "00419980" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-4" "00419981" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-5" "00419982" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-6" "00419983" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-7" "00419984" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-8" "00419985" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-9" "00419986" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-10" "00419987" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-11" "00419988" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-12" "00419989" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-13" "00419990" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-14" "00419991" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-15" "00419992" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-16" "00419993" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-17" "00419994" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-18" "00419995" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-19" "00419996" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-20" "00420000" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-21" "00420001" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-22" "00420002" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-23" "00420003" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-24" "00420004" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-25" "00420005" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "" "China" "" "" "" "" "" "HPA-26" "00420006" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-27" "00420007" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-28" "00420008" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-29" "00420009" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-30" "00420010" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-31" "00420011" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-32" "00420012" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-33" "00420013" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-34" "00420014" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-35" "00420015" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-36" "00420016" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-37" "00420017" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-38" "00420018" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-39" "00420019" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-40" "00420020" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-41" "00420021" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-42" "00420022" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-43" "00420023" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-44" "00420024" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-45" "00420025" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-46" "00420026" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-47" "00420027" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-48" "00420028" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-49" "00420029" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-50" "00420031" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-52" "00420032" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-53" "00420033" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-54" "00420035" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-56" "00420036" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-57" "00420038" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-59" "00420039" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-60" "00420049" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-61" "00420050" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-62" "00420051" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-63" "00420052" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-64" "00420053" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-65" "00420054" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-66" "00420055" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-67" "00420056" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-68" "00420057" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-69" "00420058" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-70" "00420059" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-71" "00420060" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-72" "00420061" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-73" "00420062" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-74" "00420063" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-75" "00420064" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-76" "00420065" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-77" "00420066" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-78" "00420067" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-79" "00420068" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-80" "00420069" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-81" "00420070" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-82" "00420071" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-83" "00420072" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-84" "00420073" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-85" "00420074" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-86" "00420075" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-87" "00420076" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-88" "00420077" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-89" "00420078" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "M" "no" "China" "" "" "" "" "" "HPA-90" "00420079" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-91" "00420080" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-92" "00420081" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-93" "00420082" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-94" "00420083" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-95" "00420084" "" "" "" "1" "" "04409" "{PMID:Luo 2023:36849017}" "" "F" "no" "China" "" "" "" "" "" "HPA-96" "00420837" "" "" "" "1" "" "00006" "{PMID:Chen 2002:11935335}" "2-generation family, 1 affected, unaffected heterozygous carrier mother" "" "" "Taiwan" "" "0" "" "" "" "FamWPatBF" "00420839" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420840" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420841" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420842" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420843" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420844" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420845" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420846" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420847" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420848" "" "" "" "1" "" "00006" "{PMID:Liang 2014:24401910}" "" "" "" "Taiwan" "" "0" "" "" "" "" "00420849" "" "" "" "1" 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"Iran" "" "0" "" "" "" "Pat76" "00425096" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat77" "00425097" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat78" "00425098" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat79" "00425099" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat80" "00425100" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat81" "00425101" "" "" "" "2" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "2-generation family, affected female/fetus, unaffected heterozygous carriermother/relatives" "F" "" "Iran" "" "0" "" "" "" "Pat82" "00425102" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat83" "00425103" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat84" "00425104" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat85" "00425105" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat86" "00425106" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat87" "00425107" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat88" "00425108" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat89" "00425109" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat90" "00425110" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat91" "00425111" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat92" "00425112" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat93" "00425113" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat94" "00425114" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat95" "00425115" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat96" "00425116" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat97" "00425117" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat98" "00425118" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat99" "00425119" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat100" "00425120" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat101" "00425121" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat102" "00425122" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat103" "00425123" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat104" "00425124" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat105" "00425125" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat106" "00425126" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat107" "00425127" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat108" "00425128" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat109" "00425129" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat110" "00425130" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat111" "00425131" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat112" "00425132" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat113" "00425133" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat114" "00425134" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat115" "00425135" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat116" "00425136" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat117" "00425137" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat118" "00425138" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat119" "00425139" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat121" "00425140" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat122" "00425141" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat123" "00425142" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat124" "00425143" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat125" "00425144" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat126" "00425145" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat127" "00425146" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat128" "00425147" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat129" "00425148" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat130" "00425149" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat131" "00425150" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat132" "00425151" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat133" "00425152" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat134" "00425153" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat135" "00425154" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat136" "00425155" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat137" "00425156" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat138" "00425157" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat139" "00425158" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat140" "00425159" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat141" "00425160" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat142" "00425161" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat143" "00425162" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat144" "00425163" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat145" "00425164" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat146" "00425165" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat147" "00425166" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat148" "00425167" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat149" "00425168" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat150" "00425169" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat151" "00425170" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat152" "00425171" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat153" "00425172" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat154" "00425173" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat155" "00425174" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat156" "00425175" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat157" "00425176" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat158" "00425177" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat159" "00425178" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat160" "00425179" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat161" "00425180" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat162" "00425181" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat163" "00425182" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat164" "00425183" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat165" "00425184" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat166" "00425185" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat167" "00425186" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat168" "00425187" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat169" "00425188" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat170" "00425189" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat171" "00425190" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat172" "00425191" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat173" "00425192" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat174" "00425193" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat175" "00425194" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat176" "00425195" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat177" "00425196" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat178" "00425197" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat179" "00425198" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat180" "00425199" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat181" "00425200" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat182" "00425201" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat183" "00425202" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat184" "00425203" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat185" "00425204" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat186" "00425205" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat187" "00425206" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat188" "00425207" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat189" "00425208" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat190" "00425209" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat191" "00425210" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat192" "00425211" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat193" "00425212" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat194" "00425213" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat195" "00425214" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat196" "00425215" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat197" "00425216" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat198" "00425217" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat199" "00425218" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat200" "00425219" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat201" "00425220" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat202" "00425221" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat203" "00425222" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat204" "00425223" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat205" "00425224" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat206" "00425225" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat207" "00425226" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat208" "00425227" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat209" "00425228" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat210" "00425229" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat211" "00425230" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat212" "00425231" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat213" "00425232" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat214" "00425233" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat215" "00425234" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat216" "00425235" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat217" "00425236" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat218" "00425237" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat219" "00425238" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat220" "00425239" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat221" "00425240" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat222" "00425241" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat223" "00425242" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat224" "00425243" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat225" "00425244" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat226" "00425245" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat227" "00425246" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat228" "00425247" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat229" "00425248" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat230" "00425249" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat231" "00425250" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat232" "00425251" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat233" "00425252" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat234" "00425253" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat235" "00425254" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat236" "00425255" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat237" "00425256" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat238" "00425257" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat239" "00425258" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat240" "00425259" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat242" "00425260" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat243" "00425261" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat244" "00425262" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat245" "00425263" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat246" "00425264" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat247" "00425265" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat248" "00425266" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat249" "00425267" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat250" "00425268" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat251" "00425269" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat252" "00425270" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat253" "00425271" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat254" "00425272" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat255" "00425273" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat256" "00425274" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat257" "00425275" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat258" "00425276" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat259" "00425277" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat260" "00425278" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat261" "00425279" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat262" "00425280" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat263" "00425281" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat264" "00425282" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat265" "00425283" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat266" "00425284" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat267" "00425285" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat268" "00425286" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat269" "00425287" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat270" "00425288" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat271" "00425289" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat272" "00425290" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat273" "00425291" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat274" "00425292" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat275" "00425293" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat276" "00425294" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat277" "00425295" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat278" "00425296" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat279" "00425297" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat280" "00425298" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat281" "00425299" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat282" "00425300" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat283" "00425301" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat284" "00425302" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat285" "00425303" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat286" "00425304" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat287" "00425305" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat288" "00425306" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat289" "00425307" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat290" "00425308" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat291" "00425309" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat292" "00425310" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat293" "00425311" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat294" "00425312" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat295" "00425313" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat296" "00425314" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat297" "00425315" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat298" "00425316" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat299" "00425317" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat300" "00425318" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat301" "00425319" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat302" "00425320" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat303" "00425321" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat304" "00425322" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat305" "00425323" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat306" "00425324" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat307" "00425325" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat308" "00425326" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat309" "00425327" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat310" "00425328" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat311" "00425329" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat312" "00425330" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat313" "00425331" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat314" "00425332" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat315" "00425333" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat316" "00425334" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat317" "00425335" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat318" "00425336" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat319" "00425337" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat320" "00425338" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat321" "00425339" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat322" "00425340" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat323" "00425341" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat324" "00425342" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat325" "00425343" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat326" "00425344" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat327" "00425345" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat328" "00425346" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat329" "00425347" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat330" "00425348" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat331" "00425349" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat332" "00425350" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat333" "00425351" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat334" "00425352" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat335" "00425353" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat336" "00425354" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat337" "00425355" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat338" "00425356" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat340" "00425357" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat341" "00425358" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat342" "00425359" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat343" "00425360" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat344" "00425361" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat345" "00425362" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat346" "00425363" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat347" "00425364" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat348" "00425365" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat349" "00425366" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat350" "00425367" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat351" "00425368" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat352" "00425369" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat353" "00425370" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "MLPA shows total deletion of SMN1 and NAIP, 2 copies of SMN2, confirming diagnosis severe SMA, contributing to infant’s death" "M" "" "Iran" "" "0" "" "" "" "Pat355" "00425371" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat356" "00425372" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat357" "00425373" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat358" "00425374" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat359" "00425375" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat360" "00425376" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat361" "00425377" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat362" "00425378" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat363" "00425379" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat364" "00425380" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat365" "00425381" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat366" "00425382" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat367" "00425383" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat368" "00425384" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat369" "00425385" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat370" "00425386" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat371" "00425387" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat372" "00425388" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat373" "00425389" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat374" "00425390" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat375" "00425391" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat376" "00425392" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat377" "00425393" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat378" "00425394" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat379" "00425395" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat380" "00425396" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat381" "00425397" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat383" "00425398" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat384" "00425399" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat386" "00425400" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat387" "00425401" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat388" "00425402" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat389" "00425403" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat390" "00425404" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat391" "00425405" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 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"" "" "" "Pat522" "00425534" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat523" "00425535" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat524" "00425536" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat525" "00425537" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat526" "00425538" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat527" "00425539" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat528" "00425540" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat529" "00425541" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat530" "00425542" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat531" "00425543" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat532" "00425544" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat533" "00425545" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat534" "00425546" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat535" "00425547" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat536" "00425548" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat537" "00425549" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat538" "00425550" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat539" "00425551" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat540" "00425552" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat541" "00425553" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat542" "00425554" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat543" "00425555" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat544" "00425556" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat545" "00425557" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat546" "00425558" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat547" "00425559" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat548" "00425560" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat549" "00425561" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat550" "00425562" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat551" "00425563" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat552" "00425564" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat553" "00425565" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat554" "00425566" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat555" "00425567" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat556" "00425568" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat557" "00425569" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat558" "00425570" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat559" "00425571" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat560" "00425572" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat561" "00425573" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat562" "00425574" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat563" "00425575" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat564" "00425576" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat565" "00425577" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat566" "00425578" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat567" "00425579" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat568" "00425580" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat569" "00425581" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat570" "00425582" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat571" "00425583" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat572" "00425584" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat573" "00425585" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat574" "00425586" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat575" "00425587" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat576" "00425588" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat577" "00425589" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat578" "00425590" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat579" "00425591" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat580" "00425592" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat581" "00425593" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat582" "00425594" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat583" "00425595" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat584" "00425596" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat585" "00425597" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat586" "00425598" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat587" "00425599" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat588" "00425600" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat589" "00425601" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat590" "00425602" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat591" "00425603" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat592" "00425604" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat593" "00425605" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat594" "00425606" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat595" "00425607" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat596" "00425608" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat597" "00425609" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat598" "00425610" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat599" "00425611" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat600" "00425612" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat601" "00425613" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat603" "00425614" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat604" "00425615" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat606" "00425616" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat607" "00425617" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat608" "00425618" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat609" "00425619" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat610" "00425620" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat611" "00425621" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat612" "00425622" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat613" "00425623" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat614" "00425624" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat615" "00425625" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat616" "00425626" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat617" "00425627" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat618" "00425628" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat619" "00425629" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat620" "00425630" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat621" "00425631" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat622" "00425632" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat623" "00425633" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat624" "00425634" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat625" "00425635" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat626" "00425636" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat627" "00425637" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat628" "00425638" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat630" "00425639" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat631" "00425640" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat632" "00425641" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat633" "00425642" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat634" "00425643" "" "" "" "1" "" "00006" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Iran" "" "0" "" "" "" "Pat635" "00425651" "" "" "" "1" "" "00006" "{PMID:Ellingsen 1997:8990021}" "" "" "" "Norway" "" "0" "" "" "" "patient" "00425652" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425653" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425654" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425655" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425656" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425657" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425658" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425659" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425660" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425661" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425662" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425663" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425664" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425665" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425666" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425667" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425668" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425669" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425670" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425671" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425672" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425673" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425674" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425675" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425676" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425677" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425678" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425679" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425680" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425681" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425682" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425683" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425684" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425685" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425686" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425687" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425688" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425689" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425690" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425691" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425692" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425693" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425694" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425695" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425696" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425697" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425698" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425699" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425700" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425701" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425702" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425703" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425704" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425705" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425706" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425707" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425708" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425709" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425710" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425711" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425712" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425713" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425714" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425715" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425716" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425717" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425718" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425719" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425720" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425721" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425722" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425723" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425724" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425725" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425726" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425727" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425728" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425729" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425730" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425731" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425732" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425733" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425734" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425735" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425736" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425737" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425738" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425739" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425740" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425741" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425742" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425743" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425744" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425745" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425746" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425747" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425748" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425749" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425750" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425751" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425752" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425753" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425754" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425755" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425756" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425757" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425758" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425759" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425771" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425772" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425773" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425774" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425775" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425776" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425777" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425778" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8807331}" "" "" "" "Norway" "" "0" "" "" "" "" "00425791" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8875186}" "" "" "" "Norway" "" "0" "" "" "" "" "00425792" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8875186}" "" "" "" "Norway" "" "0" "" "" "" "" "00425793" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8875186}" "" "" "" "Norway" "" "0" "" "" "" "" "00425794" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8875186}" "" "" "" "Norway" "" "0" "" "" "" "" "00425795" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8875186}" "" "" "" "Norway" "" "0" "" "" "" "" "00425796" "" "" "" "1" "" "00006" "{PMID:Eiken 1996:8875186}" "" "" "" "Norway" "" "0" "" "" "" "" "00425800" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat2" "00425801" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat4" "00425802" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat6" "00425803" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat20" "00425804" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat22" "00425805" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat34" "00425806" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat57" "00425807" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat58" "00425808" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat14" "00425809" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat27" "00425810" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat21" "00425811" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat28" "00425812" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat53" "00425813" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat29" "00425814" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat10" "00425815" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat50" "00425816" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat5" "00425817" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat7" "00425818" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat8" "00425819" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat18" "00425820" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat52" "00425821" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat62" "00425822" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat24" "00425823" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat40" "00425824" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat60" "00425825" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat64" "00425826" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat1" "00425827" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat15" "00425828" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat23" "00425829" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat48" "00425830" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat54" "00425831" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat36" "00425832" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat41" "00425833" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat49" "00425834" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat37" "00425835" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat51" "00425836" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat56" "00425837" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat3" "00425838" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat9" "00425839" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat11" "00425840" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat12" "00425841" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat13" "00425842" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat16" "00425843" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat17" "00425844" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat19" "00425845" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat25" "00425846" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat26" "00425847" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat30" "00425848" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat31" "00425849" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat32" "00425850" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat33" "00425851" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat35" "00425852" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat38" "00425853" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat39" "00425854" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat42" "00425855" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat55" "00425856" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat59" "00425857" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat61" "00425858" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat63" "00425859" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat65" "00425860" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat66" "00425861" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat67" "00425862" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat43" "00425863" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat44" "00425864" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat45" "00425865" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat46" "00425866" "" "" "" "1" "" "00006" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Poland" "" "0" "" "" "" "Pat47" "00425896" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat2" "00425897" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat3" "00425898" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat5" "00425899" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat6" "00425900" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat7" "00425901" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat8" "00425902" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat9" "00425903" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat10" "00425904" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat11" "00425905" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat12" "00425906" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat13" "00425907" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat14" "00425908" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat15" "00425909" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat16" "00425910" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat17" "00425911" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat18" "00425912" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat19" "00425913" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat20" "00425914" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat21" "00425915" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat22" "00425916" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat23" "00425917" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat24" "00425918" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat25" "00425919" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat26" "00425920" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat27" "00425921" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat28" "00425922" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat29" "00425923" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat30" "00425924" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat31" "00425925" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat32" "00425926" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat33" "00425927" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat34" "00425928" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat35" "00425929" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat36" "00425930" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat37" "00425931" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat38" "00425932" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat39" "00425933" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat40" "00425934" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat41" "00425935" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat42" "00425936" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat43" "00425937" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat44" "00425938" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat45" "00425939" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat46" "00425940" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat47" "00425941" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat48" "00425942" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "F" "" "Spain" "" "0" "" "" "Andalusia" "Pat49" "00425943" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat51" "00425944" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "M" "" "Spain" "" "0" "" "" "Andalusia" "Pat52" "00425945" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425946" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425947" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425948" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425949" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425950" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425951" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425952" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425953" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425954" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425955" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425956" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425957" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425958" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425959" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425960" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425961" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "family, 2 affected sibs" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425962" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "family, 2 affected sibs" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425963" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "family, 2 affected sibs" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425964" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "family, 2 affected sibs" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425965" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "family, 2 affected sibs" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425966" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425967" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425968" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425969" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425970" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425971" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425972" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425973" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425974" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425975" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425976" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425977" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425978" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425979" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425980" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "family, 2 affected sibs" "" "" "Spain" "" "0" "" "" "Andalusia" "patient" "00425981" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425982" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425983" "" "" "" "5" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425984" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425985" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425986" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425987" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425988" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425989" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425990" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425991" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425992" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425993" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425994" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425995" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425996" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425997" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425998" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00425999" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426000" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426001" "" "" "" "11" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426002" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426003" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426004" "" "" "" "4" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426005" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426006" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426007" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426008" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426009" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426010" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426011" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426012" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426013" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426014" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426015" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426016" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426017" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426018" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426019" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426020" "" "" "" "4" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426021" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426022" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426023" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426024" "" "" "" "2" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426025" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426026" "" "" "" "7" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426027" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426028" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426029" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426030" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426031" "" "" "" "8" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426032" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426033" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426034" "" "" "" "1" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426035" "" "" "" "3" "" "00006" "{PMID:Bueno 2013:23514811}" "" "" "" "Spain" "" "0" "" "" "Andalusia" "" "00426036" "" "" "" "1" "" "00006" "{PMID:Razipour 2017:28540274}" "2-generation family, 1 affected, unaffected heterozygous carrier parents" "F" "" "Iran" "" "0" "" "" "" "patient" "00426037" "" 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"00427066" "00000" "00427067" "00000" "00427068" "00000" "00427069" "00000" "00427070" "00000" "00427071" "00000" "00427072" "00000" "00427166" "00221" "00449566" "00221" "00452123" "00198" "00452124" "00198" "00452125" "00198" "00452126" "00198" "00452127" "00198" "00452128" "00198" "00452129" "00198" "00452130" "00198" "00452131" "00198" "00452132" "00198" "00452133" "00198" "00452134" "00198" "00452135" "00198" "00452136" "00198" "00452137" "00198" "00452138" "00198" "00452139" "00198" "00452140" "00198" "00452141" "00198" "00452142" "00198" "00452143" "00198" "00452144" "00198" "00452145" "00198" "00452146" "00198" "00452147" "00198" "00452148" "00198" "00452149" "00198" "00452150" "00198" "00452151" "00198" "00452152" "00198" "00452153" "00198" "00452154" "00198" "00452155" "00198" "00452156" "00198" "00452157" "00198" "00452158" "00198" "00453640" "02554" "00453641" "02554" "00453642" "02554" "00453643" "02554" "00453644" "02554" "00453645" "02554" "00453646" "02554" "00453647" "02554" "00453648" "02554" "00453649" "02554" "00453650" "02554" "00453651" "02554" "00453652" "02554" "00453653" "02554" "00453654" "02554" "00453655" "02554" "00453656" "02554" "00453657" "02554" "00453658" "02554" "00453659" "02554" "00453660" "02554" "00453661" "02554" "00453662" "02554" "00453663" "02554" "00453664" "02554" "00453704" "02554" "00453705" "02554" "00453706" "02554" "00453707" "02554" "00457670" "00198" "00467696" "00139" "00467696" "00221" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00138, 00139, 00198, 00221, 02256, 02554, 04214, 04217, 05123, 05378, 05683 ## Count = 2577 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000001882" "00221" "00003036" "00006" "Isolated (sporadic)" "" "classic PKU" "" "" "" "" "" "" "" "" "" "" "" "0000022000" "00221" "00025488" "01168" "Unknown" "" "mild PKU; pre-treatment Phe level 608 uM" "" "" "" "" "" "" "" "" "" "" "" "0000143301" "00221" "00181048" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143302" "00221" "00181050" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000143325" "00221" "00181072" "02568" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000235161" "00221" "00309846" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235162" "00221" "00309847" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235163" "00221" "00309848" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235164" "00221" "00309849" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235166" "00221" "00309851" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235169" "00221" "00309854" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235170" "00221" "00309855" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000235190" "02256" "00309847" "00006" "Familial, X-linked recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "OTCD" "" "" "0000245811" "04214" "00327547" "00006" "Familial, autosomal recessive" "" "see paper; ..., Leber congenital amaurosis , Joubert syndrome, polycystic kidney disease" "" "" "" "" "" "" "" "" "" "" "" "0000289115" "05378" "00395953" "00006" "Familial, autosomal recessive" "00y22m" "4m-epileptic spasms, no head control; 5m-EEG hypsarrhythmia; 9m-severe developmental delay; MRI brain cortical atrophy; 18m-raised CK 25,000, 20m-" "00y04m" "" "epileptic spasms" "" "" "" "" "" "" "" "" "0000294438" "00221" "00401668" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000294439" "00221" "00401669" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000294440" "00221" "00401670" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000294441" "00221" "00401671" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000294442" "00221" "00401672" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000294443" "00221" "00401673" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000294444" "00221" "00401674" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000294445" "00221" "00401675" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000294446" "00221" "00401676" "00006" "Familial, autosomal recessive" "" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000298478" "00221" "00405979" "04289" "Familial, autosomal recessive" "00y01m" "newborn screening" "" "00y01m" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298479" "00221" "00405980" "04289" "Familial, autosomal recessive" "00y01m" "newborn screening" "" "00y01m" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298480" "00221" "00405981" "04289" "Familial, autosomal recessive" "00y01m" "newborn screening" "" "00y01m" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298582" "00221" "00406084" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298583" "00221" "00406085" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298584" "00221" "00406086" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298585" "00221" "00406087" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298586" "00221" "00406088" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298587" "00221" "00406089" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298588" "00221" "00406090" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298589" "00221" "00406091" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298590" "00221" "00406092" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298591" "00221" "00406093" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298592" "00221" "00406094" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298593" "00221" "00406095" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298594" "00221" "00406096" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298595" "00221" "00406097" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298596" "00221" "00406098" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298597" "00221" "00406099" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298598" "00221" "00406100" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298599" "00221" "00406101" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298600" "00221" "00406102" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298601" "00221" "00406103" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298602" "00221" "00406104" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298603" "00221" "00406105" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298604" "00221" "00406106" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298605" "00221" "00406107" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298606" "00221" "00406108" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298607" "00221" "00406109" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298608" "00221" "00406110" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298609" "00221" "00406111" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298610" "00221" "00406112" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298611" "00221" "00406113" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298612" "00221" "00406114" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298613" "00221" "00406115" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298614" "00221" "00406116" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298615" "00221" "00406117" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298616" "00221" "00406118" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298617" "00221" "00406119" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298618" "00221" "00406120" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298619" "00221" "00406121" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298620" "00221" "00406122" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298621" "00221" "00406123" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298622" "00221" "00406124" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298623" "00221" "00406125" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298624" "00221" "00406126" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298625" "00221" "00406127" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298626" "00221" "00406128" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298627" "00221" "00406129" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298628" "00221" "00406130" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298629" "00221" "00406131" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298630" "00221" "00406132" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298631" "00221" "00406133" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298632" "00221" "00406134" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298633" "00221" "00406135" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298634" "00221" "00406136" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298635" "00221" "00406137" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298636" "00221" "00406138" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298637" "00221" "00406139" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298638" "00221" "00406140" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298639" "00221" "00406141" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298640" "00221" "00406142" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298641" "00221" "00406143" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298642" "00221" "00406144" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298643" "00221" "00406145" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298644" "00221" "00406146" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298645" "00221" "00406147" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298646" "00221" "00406148" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298647" "00221" "00406149" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298648" "00221" "00406150" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298649" "00221" "00406151" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298650" "00221" "00406152" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298651" "00221" "00406153" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298652" "00221" "00406154" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298653" "00221" "00406155" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298654" "00221" "00406156" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298655" "00221" "00406157" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298656" "00221" "00406158" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298657" "00221" "00406159" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298658" "00221" "00406160" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298659" "00221" "00406161" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298660" "00221" "00406162" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298661" "00221" "00406163" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298662" "00221" "00406164" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298663" "00221" "00406165" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298664" "00221" "00406166" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298665" "00221" "00406167" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298666" "00221" "00406168" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298667" "00221" "00406169" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298668" "00221" "00406170" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298669" "00221" "00406171" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298670" "00221" "00406172" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298671" "00221" "00406173" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298672" "00221" "00406174" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298673" "00221" "00406175" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298674" "00221" "00406176" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298675" "00221" "00406177" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298676" "00221" "00406178" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298677" "00221" "00406179" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298678" "00221" "00406180" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298679" "00221" "00406181" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298680" "00221" "00406182" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298681" "00221" "00406183" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298682" "00221" "00406184" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298683" "00221" "00406185" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298684" "00221" "00406186" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298685" "00221" "00406187" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298686" "00221" "00406188" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298687" "00221" "00406189" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298688" "00221" "00406190" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298689" "00221" "00406191" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298690" "00221" "00406192" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298691" "00221" "00406193" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298692" "00221" "00406194" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298693" "00221" "00406195" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298694" "00221" "00406196" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298695" "00221" "00406197" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298696" "00221" "00406198" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298697" "00221" "00406199" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298698" "00221" "00406200" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000298699" "00221" "00406201" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298700" "00221" "00406202" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000298701" "00221" "00406203" "04289" "Familial, autosomal recessive" "" "newborn screening" "" "" "" "" "" "" "" "" "PKU" "mild phenylketonuria" "" "0000298702" "00221" "00406204" "04289" "Familial, autosomal recessive" "" "clinical diagnosis" "" "" "" "" "" "" "" "" "PKU" "classic phenylketonuria" "" "0000310934" "00198" "00419653" "02300" "Isolated (sporadic)" "30y" "cardiomyopathy, cardiac arrest, phenylketonuria" "" "" "" "" "" "" "" "" "" "cardio and/or vascular abnormality" "" "0000311248" "00221" "00420032" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.4mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311249" "00221" "00420031" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=20.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311250" "00221" "00420033" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=2.8mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311253" "00221" "00420035" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=18.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311254" "00221" "00420036" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=23.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311257" "00221" "00420038" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=24.7md/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311258" "00221" "00420039" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=16.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311259" "00221" "00419977" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=10.1" "" "" "" "" "" "" "" "" "" "" "" "0000311260" "00221" "00419978" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=4.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311261" "00221" "00419979" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=21.8mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311262" "00221" "00419980" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=14.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311263" "00221" "00419981" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=22.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311264" "00221" "00419982" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=9.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311265" "00221" "00419983" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=4.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311266" "00221" "00419984" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=15.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311267" "00221" "00419985" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=9.4mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311268" "00221" "00419986" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.0" "" "" "" "" "" "" "" "" "" "" "" "0000311269" "00221" "00419987" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=6.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311270" "00221" "00419988" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=19.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311271" "00221" "00419989" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=13.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311272" "00221" "00419990" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=9.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311273" "00221" "00419991" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=15.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311274" "00221" "00419992" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=29.8mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311275" "00221" "00419993" "04409" "Unknown" "" "mild PKU, phe at diagnosis=18.0mg/dl" "" "" "" "Xinhua Hospital" "" "" "" "" "" "" "" "0000311276" "00221" "00419994" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=18.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311277" "00221" "00419996" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=12.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311278" "00221" "00419995" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=21.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311286" "00221" "00420000" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=2.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311287" "00221" "00420001" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=11.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311288" "00221" "00420002" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311289" "00221" "00420003" "04409" "Unknown" "" "MHP, phe at diagnosis=2.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311290" "00221" "00420004" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=2.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311291" "00221" "00420005" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=16.4mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311292" "00221" "00420006" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=39.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311293" "00221" "00420007" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=29.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311294" "00221" "00420008" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=27.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311295" "00221" "00420009" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=20.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311296" "00221" "00420010" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=21.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311297" "00221" "00420011" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=48.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311298" "00221" "00420012" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=16.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311299" "00221" "00420013" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=18.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311300" "00221" "00420014" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=16.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311301" "00221" "00420015" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=13.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311302" "00221" "00420016" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=10.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311303" "00221" "00420017" "04409" "Unknown" "" "mild PKU, phe at diagnosis=27.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311304" "00221" "00420018" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=7.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311305" "00221" "00420019" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=2.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311306" "00221" "00420020" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=5.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311307" "00221" "00420021" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=14.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311308" "00221" "00420022" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=14.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311309" "00221" "00420023" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=7.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311310" "00221" "00420024" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311311" "00221" "00420025" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=4.8mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311312" "00221" "00420026" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=5.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311313" "00221" "00420027" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=34.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311314" "00221" "00420028" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=36.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311315" "00221" "00420029" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=6.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311317" "00221" "00420049" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=13.4mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311318" "00221" "00420050" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=7.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311319" "00221" "00420051" "04409" "Unknown" "" "MHP, phe at diagnosis=3.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311574" "00221" "00420052" "04409" "Unknown" "" "mild PKU, phe at diagnosis=14.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311575" "00221" "00420053" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311576" "00221" "00420054" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=8.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311577" "00221" "00420055" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=10.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311578" "00221" "00420056" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=12.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311579" "00221" "00420057" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=17.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311580" "00221" "00420058" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=7.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311581" "00221" "00420059" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=21.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311582" "00221" "00420060" "04409" "Unknown" "" "MHP, phe at diagnosis=6.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311583" "00221" "00420061" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=6.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311584" "00221" "00420062" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=5.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311585" "00221" "00420063" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=34.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311586" "00221" "00420064" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=24.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311587" "00221" "00420065" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=23.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311588" "00221" "00420066" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=6.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311589" "00221" "00420067" "04409" "Familial, autosomal recessive" "" "mild PKU, phe at diagnosis=10.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311590" "00221" "00420068" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=20.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311591" "00221" "00420069" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=26.8mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311592" "00221" "00420070" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=22.9mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311593" "00221" "00420071" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=5.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311594" "00221" "00420072" "04409" "Unknown" "" "mild PKU, phe at diagnosis=18.7mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311595" "00221" "00420073" "04409" "Familial, autosomal recessive" "" "classic PKU, phe=26.0mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311596" "00221" "00420074" "04409" "Unknown" "" "mild PKU, phe at diagnosis=10.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311597" "00221" "00420075" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=8.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311598" "00221" "00420076" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311599" "00221" "00420077" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=4.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311600" "00221" "00420078" "04409" "Unknown" "" "MHP, phe at diagnosis=2.2mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311601" "00221" "00420079" "04409" "Unknown" "" "mild PKU, phe at diagnosis=18.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311602" "00221" "00420080" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.5mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311603" "00221" "00420081" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=3.8mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311604" "00221" "00420082" "04409" "Familial, autosomal recessive" "" "MHP, phe at diagnosis=9.3mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311605" "00221" "00420083" "04409" "Unknown" "" "classic PKU, phe at diagnosis=33.6mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000311606" "00221" "00420084" "04409" "Familial, autosomal recessive" "" "classic PKU, phe at diagnosis=20.1mg/dl" "" "" "" "" "" "" "" "" "" "" "" "0000312084" "05683" "00420837" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "hyperphenylalaninemia" "" "0000312086" "00221" "00420839" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312087" "00221" "00420840" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312088" "00221" "00420841" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312089" "00221" "00420842" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312090" "00221" "00420843" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312091" "00221" "00420844" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312092" "00221" "00420845" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312093" "00221" "00420846" "00006" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000312094" "00221" "00420847" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312095" "00221" "00420848" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312096" "00221" "00420849" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312097" "00221" "00420850" "00006" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000312098" "00221" "00420851" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312099" "00221" "00420852" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312100" "00221" "00420853" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312101" "00221" "00420854" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312102" "00221" "00420855" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312103" "00221" "00420856" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312104" "00221" "00420857" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312105" "00221" "00420858" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312106" "00221" "00420859" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312107" "00221" "00420860" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312108" "00221" "00420861" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312109" "00221" "00420862" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312110" "00221" "00420863" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312111" "00221" "00420864" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312112" "00221" "00420865" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312113" "00221" "00420866" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312114" "00221" "00420867" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312115" "00221" "00420868" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312116" "00221" "00420869" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312117" "00221" "00420870" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312118" "00221" "00420871" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312119" "00221" "00420872" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312120" "00221" "00420873" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312121" "00221" "00420874" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312122" "00221" "00420875" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312123" "00221" "00420876" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312124" "00221" "00420877" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312125" "00221" "00420878" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312126" "00221" "00420879" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312127" "00221" "00420880" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312128" "00221" "00420881" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312129" "00221" "00420882" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312130" "00221" "00420883" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312131" "00221" "00420884" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312132" "00221" "00420885" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312133" "00221" "00420886" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312134" "00221" "00420887" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312135" "00221" "00420888" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312136" "00221" "00420889" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312137" "00221" "00420890" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312138" "00221" "00420891" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312139" "00221" "00420892" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312140" "00221" "00420893" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312141" "00221" "00420894" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312142" "00221" "00420895" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312143" "00221" "00420896" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312144" "00221" "00420897" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312145" "00221" "00420898" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312146" "00221" "00420899" "00006" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000312147" "00221" "00420900" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312148" "00221" "00420901" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312149" "00221" "00420902" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312150" "00221" "00420903" "00006" "Familial, autosomal recessive" "" "?" "" "" "" "" "" "" "" "" "" "?" "" "0000312151" "00221" "00420904" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312152" "00221" "00420905" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312153" "00221" "00420906" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312154" "00221" "00420907" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312155" "00221" "00420908" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312156" "00221" "00420909" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312195" "00221" "00420955" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1212 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312196" "00221" "00420956" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 333 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312197" "00221" "00420957" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 727 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312198" "00221" "00420958" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 424 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312199" "00221" "00420959" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 224 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312200" "00221" "00420960" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 333 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312201" "00221" "00420961" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1091 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312202" "00221" "00420962" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 364 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312203" "00221" "00420963" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 485 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312204" "00221" "00420964" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1515 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312205" "00221" "00420965" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1394 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312206" "00221" "00420966" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 2000 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312207" "00221" "00420967" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 279 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312208" "00221" "00420968" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1091 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312209" "00221" "00420969" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 727 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312210" "00221" "00420970" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 788 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312211" "00221" "00420971" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 849 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312212" "00221" "00420972" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 727 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312213" "00221" "00420973" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 606 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312214" "00221" "00420974" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1212 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312215" "00221" "00420975" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 546 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312216" "00221" "00420976" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 261 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312217" "00221" "00420977" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 727 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312218" "00221" "00420978" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 303 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312219" "00221" "00420979" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 455 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312220" "00221" "00420980" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 485 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312221" "00221" "00420981" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1091 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312222" "00221" "00420982" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 267 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312223" "00221" "00420983" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 364 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312224" "00221" "00420984" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 424 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312225" "00221" "00420985" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1273 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312226" "00221" "00420986" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 788 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312227" "00221" "00420987" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 333 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312228" "00221" "00420988" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 491 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312229" "00221" "00420989" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 242 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312230" "00221" "00420990" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1818 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312231" "00221" "00420991" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1091 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312232" "00221" "00420992" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 758 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312233" "00221" "00420993" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1515 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312234" "00221" "00420994" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 2121 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312235" "00221" "00420995" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1455 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312236" "00221" "00420996" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 667 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312237" "00221" "00420997" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1212 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312238" "00221" "00420998" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1697 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312239" "00221" "00420999" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1697 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312240" "00221" "00421000" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 909 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312241" "00221" "00421001" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1394 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312242" "00221" "00421002" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1515 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312243" "00221" "00421003" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 849 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312244" "00221" "00421004" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1818 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312245" "00221" "00421005" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1121 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312246" "00221" "00421006" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 546 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312247" "00221" "00421007" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1394 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312248" "00221" "00421008" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1637 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312249" "00221" "00421009" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1091 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312250" "00221" "00421010" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1333 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312251" "00221" "00421011" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 2909 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312252" "00221" "00421012" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1273 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312253" "00221" "00421013" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1333 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312254" "00221" "00421014" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1515 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312255" "00221" "00421015" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1394 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312256" "00221" "00421016" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1091 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312257" "00221" "00421017" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1273 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312258" "00221" "00421018" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 2121 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312259" "00221" "00421019" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1939 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312260" "00221" "00421020" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1333 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312261" "00221" "00421021" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1030 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312262" "00221" "00421022" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1091 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312263" "00221" "00421023" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1091 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312264" "00221" "00421024" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1546 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312265" "00221" "00421025" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 1333 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312266" "00221" "00421026" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 739 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312267" "00221" "00421027" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 666 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312268" "00221" "00421028" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1818 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312269" "00221" "00421029" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 849 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312270" "00221" "00421030" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1818 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312271" "00221" "00421031" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1273 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312272" "00221" "00421032" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1212 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312273" "00221" "00421033" "00006" "Familial, autosomal recessive" "" "blood level L-Phe 788 umol/L at diagnosis" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312274" "00221" "00421034" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1576 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312275" "00221" "00421035" "00006" "Familial, autosomal recessive" "" "newborn screening blood level L-Phe 1576 umol/L" "" "" "" "" "" "" "" "" "" "hyperphenylalaninemia" "" "0000312276" "00221" "00421036" "00006" "Familial, autosomal recessive" "" "variant PKU" "" "" "" "" "" "" "" "" "" "variant PKU" "" "0000312277" "00221" "00421037" "00006" "Familial, autosomal recessive" "" "variant PKU" "" "" "" "" "" "" "" "" "" "variant PKU" "" "0000312278" "00221" "00421038" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312279" "00221" "00421039" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312280" "00221" "00421040" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312281" "00221" "00421041" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312282" "00221" "00421042" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312283" "00221" "00421043" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312284" "00221" "00421044" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312285" "00221" "00421045" "00006" "Familial, autosomal recessive" "" "variant PKU" "" "" "" "" "" "" "" "" "" "variant PKU" "" "0000312286" "00221" "00421046" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312287" "00221" "00421047" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312288" "00221" "00421048" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312289" "00221" "00421049" "00006" "Familial, autosomal recessive" "" "variant PKU" "" "" "" "" "" "" "" "" "" "variant PKU" "" "0000312290" "00221" "00421050" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312291" "00221" "00421051" "00006" "Familial, autosomal recessive" "" "variant PKU" "" "" "" "" "" "" "" "" "" "variant PKU" "" "0000312292" "00221" "00421052" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312293" "00221" "00421053" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312294" "00221" "00421054" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312295" "00221" "00421055" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312296" "00221" "00421056" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312297" "00221" "00421057" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312298" "00221" "00421058" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312299" "00221" "00421059" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312300" "00221" "00421060" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312301" "00221" "00421061" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312302" "00221" "00421062" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312303" "00221" "00421063" "00006" "Familial, autosomal recessive" "" "variant PKU" "" "" "" "" "" "" "" "" "" "variant PKU" "" "0000312304" "00221" "00421064" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312305" "00221" "00421065" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312306" "00221" "00421066" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312307" "00221" "00421067" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312308" "00221" "00421069" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312309" "00221" "00421070" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312310" "00221" "00421071" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312311" "00221" "00421072" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312312" "00221" "00421073" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312313" "00221" "00421074" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312314" "00221" "00421075" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312315" "00221" "00421076" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312316" "00221" "00421077" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312317" "00221" "00421078" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312318" "00221" "00421079" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312319" "00221" "00421080" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312320" "00221" "00421081" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312321" "00221" "00421082" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312322" "00221" "00421083" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312323" "00221" "00421084" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312324" "00221" "00421085" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312325" "00221" "00421086" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312326" "00221" "00421087" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312327" "00221" "00421088" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312328" "00221" "00421089" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312329" "00221" "00421090" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312330" "00221" "00421091" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312331" "00221" "00421092" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312332" "00221" "00421093" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312333" "00221" "00421094" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312334" "00221" "00421095" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312335" "00221" "00421096" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312336" "00221" "00421097" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312337" "00221" "00421098" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312338" "00221" "00421099" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312339" "00221" "00421100" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312340" "00221" "00421101" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312341" "00221" "00421102" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312342" "00221" "00421103" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312343" "00221" "00421104" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312344" "00221" "00421105" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312345" "00221" "00421106" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312346" "00221" "00421107" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312347" "00221" "00421108" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312348" "00221" "00421109" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312349" "00221" "00421110" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312350" "00221" "00421111" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312351" "00221" "00421112" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312352" "00221" "00421113" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312353" "00221" "00421114" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312354" "00221" "00421115" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312355" "00221" "00421116" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312356" "00221" "00421117" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312357" "00221" "00421118" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312358" "00221" "00421119" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312359" "00221" "00421120" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312360" "00221" "00421121" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312361" "00221" "00421122" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312362" "00221" "00421123" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312363" "00221" "00421124" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312364" "00221" "00421125" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312365" "00221" "00421126" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312366" "00221" "00421127" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312367" "00221" "00421128" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312368" "00221" "00421129" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312369" "00221" "00421130" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312370" "00221" "00421131" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312371" "00221" "00421132" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312372" "00221" "00421133" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312373" "00221" "00421134" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312374" "00221" "00421135" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312375" "00221" "00421136" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312376" "00221" "00421137" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312377" "00221" "00421138" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312378" "00221" "00421139" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312379" "00221" "00421140" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312380" "00221" "00421141" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312381" "00221" "00421142" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312382" "00221" "00421143" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312383" "00221" "00421144" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312384" "00221" "00421145" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312385" "00221" "00421146" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312386" "00221" "00421147" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312387" "00221" "00421148" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312388" "00221" "00421149" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312389" "00221" "00421150" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312390" "00221" "00421151" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312391" "00221" "00421152" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312392" "00221" "00421153" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312393" "00221" "00421154" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312394" "00221" "00421155" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312395" "00221" "00421156" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312396" "00221" "00421157" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312397" "00221" "00421158" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312398" "00221" "00421159" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312399" "00221" "00421160" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312400" "00221" "00421161" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312401" "00221" "00421162" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312402" "00221" "00421163" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312403" "00221" "00421164" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312404" "00221" "00421165" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312405" "00221" "00421166" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312406" "00221" "00421167" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312407" "00221" "00421168" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312408" "00221" "00421169" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312409" "00221" "00421170" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312410" "00221" "00421171" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312411" "00221" "00421172" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312412" "00221" "00421173" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312413" "00221" "00421174" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312414" "00221" "00421175" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312415" "00221" "00421176" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312416" "00221" "00421177" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312417" "00221" "00421178" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312418" "00221" "00421179" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312419" "00221" "00421180" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312420" "00221" "00421181" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312421" "00221" "00421182" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312422" "00221" "00421183" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312423" "00221" "00421184" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312424" "00221" "00421185" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312425" "00221" "00421186" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312426" "00221" "00421187" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312427" "00221" "00421188" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312428" "00221" "00421189" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312429" "00221" "00421190" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312430" "00221" "00421191" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312431" "00221" "00421192" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312432" "00221" "00421193" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312433" "00221" "00421194" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312434" "00221" "00421195" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312435" "00221" "00421196" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312436" "00221" "00421197" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312437" "00221" "00421198" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312438" "00221" "00421199" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312439" "00221" "00421200" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312440" "00221" "00421201" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312441" "00221" "00421202" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312442" "00221" "00421203" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312443" "00221" "00421204" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312444" "00221" "00421205" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312445" "00221" "00421206" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312446" "00221" "00421207" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312447" "00221" "00421208" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312448" "00221" "00421209" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312449" "00221" "00421210" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312450" "00221" "00421211" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312451" "00221" "00421212" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312452" "00221" "00421213" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312453" "00221" "00421214" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312454" "00221" "00421215" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312455" "00221" "00421216" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312456" "00221" "00421217" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312457" "00221" "00421218" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312458" "00221" "00421219" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312459" "00221" "00421220" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312460" "00221" "00421221" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312461" "00221" "00421222" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312462" "00221" "00421223" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312463" "00221" "00421224" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312464" "00221" "00421225" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312465" "00221" "00421226" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312466" "00221" "00421227" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312467" "00221" "00421228" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312468" "00221" "00421229" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312469" "00221" "00421230" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312470" "00221" "00421231" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312471" "00221" "00421232" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312472" "00221" "00421233" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312473" "00221" "00421234" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312474" "00221" "00421235" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312475" "00221" "00421236" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312476" "00221" "00421237" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312477" "00221" "00421238" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312478" "00221" "00421239" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312479" "00221" "00421240" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312480" "00221" "00421241" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312481" "00221" "00421242" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312482" "00221" "00421243" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312483" "00221" "00421244" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312484" "00221" "00421245" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "WRN" "moderate PKU" "" "0000312485" "00221" "00421246" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312486" "00221" "00421247" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "WRN" "classic PKU" "" "0000312487" "00221" "00421248" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "WRN" "mild hyperphenylalaninemia" "" "0000312488" "00221" "00421249" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312489" "00221" "00421250" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312490" "00221" "00421251" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312491" "00221" "00421252" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312492" "00221" "00421253" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312493" "00221" "00421254" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312494" "00221" "00421255" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312495" "00221" "00421256" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312496" "00221" "00421257" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312497" "00221" "00421258" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312498" "00221" "00421259" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312499" "00221" "00421260" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312500" "00221" "00421261" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312501" "00221" "00421262" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312502" "00221" "00421263" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312503" "00221" "00421264" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312504" "00221" "00421265" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312505" "00221" "00421266" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312506" "00221" "00421267" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312507" "00221" "00421268" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312508" "00221" "00421269" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312509" "00221" "00421270" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312510" "00221" "00421271" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312511" "00221" "00421272" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312512" "00221" "00421273" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312513" "00221" "00421274" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "" "moderate PKU" "" "0000312514" "00221" "00421275" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312515" "00221" "00421276" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312516" "00221" "00421277" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312517" "00221" "00421278" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312518" "00221" "00421279" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312519" "00221" "00421280" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312520" "00221" "00421281" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312521" "00221" "00421282" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312522" "00221" "00421283" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312523" "00221" "00421284" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312524" "00221" "00421285" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312525" "00221" "00421286" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312526" "00221" "00421287" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312527" "00221" "00421288" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312528" "00221" "00421289" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312529" "00221" "00421290" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312530" "00221" "00421291" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312531" "00221" "00421292" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312532" "00221" "00421293" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312533" "00221" "00421294" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312534" "00221" "00421295" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312535" "00221" "00421296" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312536" "00221" "00421297" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312537" "00221" "00421298" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312538" "00221" "00421299" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312539" "00221" "00421300" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312540" "00221" "00421301" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312541" "00221" "00421302" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312542" "00221" "00421303" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312543" "00221" "00421304" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312544" "00221" "00421305" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312545" "00221" "00421306" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312546" "00221" "00421307" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312547" "00221" "00421308" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312548" "00221" "00421309" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312549" "00221" "00421310" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312550" "00221" "00421311" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312551" "00221" "00421312" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312552" "00221" "00421313" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312553" "00221" "00421314" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312554" "00221" "00421315" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312555" "00221" "00421316" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312556" "00221" "00421317" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312557" "00221" "00421318" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312558" "00221" "00421319" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312559" "00221" "00421320" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312560" "00221" "00421321" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312561" "00221" "00421322" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312562" "00221" "00421323" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312563" "00221" "00421324" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312564" "00221" "00421325" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312565" "00221" "00421326" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312566" "00221" "00421327" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312567" "00221" "00421328" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312568" "00221" "00421329" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312569" "00221" "00421330" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312570" "00221" "00421331" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312571" "00221" "00421332" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312572" "00221" "00421333" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312573" "00221" "00421334" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312574" "00221" "00421335" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312575" "00221" "00421336" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312576" "00221" "00421337" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312577" "00221" "00421338" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312578" "00221" "00421339" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312579" "00221" "00421340" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312580" "00221" "00421341" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312581" "00221" "00421342" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312582" "00221" "00421343" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312583" "00221" "00421344" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312584" "00221" "00421345" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312585" "00221" "00421346" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312586" "00221" "00421347" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312587" "00221" "00421348" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312588" "00221" "00421349" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312589" "00221" "00421350" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312590" "00221" "00421351" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312591" "00221" "00421352" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312592" "00221" "00421353" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312593" "00221" "00421354" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312594" "00221" "00421355" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312595" "00221" "00421356" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312596" "00221" "00421357" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312597" "00221" "00421358" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312598" "00221" "00421359" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312599" "00221" "00421360" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312600" "00221" "00421361" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312601" "00221" "00421362" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312602" "00221" "00421363" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312603" "00221" "00421364" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312604" "00221" "00421365" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312605" "00221" "00421366" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312606" "00221" "00421367" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312607" "00221" "00421368" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312608" "00221" "00421369" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312609" "00221" "00421370" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312610" "00221" "00421371" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312611" "00221" "00421372" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312612" "00221" "00421373" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312613" "00221" "00421374" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312614" "00221" "00421375" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312615" "00221" "00421376" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312616" "00221" "00421377" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312617" "00221" "00421378" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "" "classic PKU" "" "0000312618" "00221" "00421379" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "" "mild PKU" "" "0000312619" "00221" "00421380" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "" "mild hyperphenylalaninemia" "" "0000312651" "00221" "00421415" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312652" "00221" "00421416" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312653" "00221" "00421417" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312654" "00221" "00421418" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312655" "00221" "00421419" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312656" "00221" "00421420" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312657" "00221" "00421421" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312658" "00221" "00421422" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312659" "00221" "00421423" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312660" "00221" "00421424" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312661" "00221" "00421425" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312662" "00221" "00421426" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312663" "00221" "00421427" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312664" "00221" "00421428" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312665" "00221" "00421429" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312666" "00221" "00421430" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312667" "00221" "00421431" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312668" "00221" "00421432" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312669" "00221" "00421433" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312670" "00221" "00421434" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312671" "00221" "00421435" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312672" "00221" "00421436" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312673" "00221" "00421437" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312674" "00221" "00421438" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312675" "00221" "00421439" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312676" "00221" "00421440" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312677" "00221" "00421441" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312678" "00221" "00421442" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312679" "00221" "00421443" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312680" "00221" "00421444" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312681" "00221" "00421445" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312682" "00221" "00421446" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312683" "00221" "00421447" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312684" "00221" "00421448" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312685" "00221" "00421449" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312686" "00221" "00421450" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312687" "00221" "00421451" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312688" "00221" "00421452" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312689" "00221" "00421453" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312690" "00221" "00421454" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312691" "00221" "00421455" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312692" "00221" "00421456" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312693" "00221" "00421457" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312694" "00221" "00421458" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312695" "00221" "00421459" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312696" "00221" "00421460" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312697" "00221" "00421461" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312698" "00221" "00421462" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312699" "00221" "00421463" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312700" "00221" "00421464" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312701" "00221" "00421465" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312702" "00221" "00421466" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312703" "00221" "00421467" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312704" "00221" "00421468" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312705" "00221" "00421469" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312706" "00221" "00421470" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312707" "00221" "00421471" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312708" "00221" "00421472" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312709" "00221" "00421473" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312710" "00221" "00421474" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312711" "00221" "00421475" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312712" "00221" "00421476" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312713" "00221" "00421477" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312714" "00221" "00421478" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312715" "00221" "00421479" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312716" "00221" "00421480" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312717" "00221" "00421481" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312718" "00221" "00421482" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312719" "00221" "00421483" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312720" "00221" "00421484" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312721" "00221" "00421485" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312722" "00221" "00421486" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312723" "00221" "00421487" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312724" "00221" "00421488" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312725" "00221" "00421489" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312726" "00221" "00421490" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312727" "00221" "00421491" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312728" "00221" "00421492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312729" "00221" "00421493" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312730" "00221" "00421494" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312731" "00221" "00421495" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312732" "00221" "00421496" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312733" "00221" "00421497" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312734" "00221" "00421498" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312735" "00221" "00421499" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312736" "00221" "00421500" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312737" "00221" "00421501" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312738" "00221" "00421502" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312739" "00221" "00421503" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312740" "00221" "00421504" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312741" "00221" "00421505" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312742" "00221" "00421506" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312743" "00221" "00421507" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312744" "00221" "00421508" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312745" "00221" "00421509" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312746" "00221" "00421510" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "" "phenylketonuria" "" "0000312759" "00221" "00421523" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000312760" "00221" "00421524" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000312761" "00221" "00421525" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000312774" "00221" "00421568" "00006" "Familial, autosomal recessive" "05y" "see paper; ..., phenylketonuria, short stature, pathological electro-oculography both eyes, with high affectation of relative electrogenesis of the photoreceptor-pigment epithelium complex" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000312781" "00221" "00421576" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312782" "00221" "00421577" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312783" "00221" "00421578" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312784" "00221" "00421579" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312785" "00221" "00421580" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312786" "00221" "00421581" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312787" "00221" "00421582" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312788" "00221" "00421583" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312789" "00221" "00421584" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312790" "00221" "00421585" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312791" "00221" "00421586" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312792" "00221" "00421587" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312793" "00221" "00421588" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312794" "00221" "00421589" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312795" "00221" "00421590" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312796" "00221" "00421591" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312797" "00221" "00421592" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312798" "00221" "00421593" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312799" "00221" "00421594" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312800" "00221" "00421595" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312801" "00221" "00421596" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312802" "00221" "00421597" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312803" "00221" "00421598" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312804" "00221" "00421599" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312805" "00221" "00421600" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312806" "00221" "00421601" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312807" "00221" "00421602" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312808" "00221" "00421603" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312809" "00221" "00421604" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312810" "00221" "00421605" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312811" "00221" "00421606" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312812" "00221" "00421607" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312813" "00221" "00421608" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312814" "00221" "00421609" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312815" "00221" "00421610" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312816" "00221" "00421611" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312817" "00221" "00421612" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312818" "00221" "00421613" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312819" "00221" "00421614" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312820" "00221" "00421615" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312821" "00221" "00421616" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312822" "00221" "00421617" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312823" "00221" "00421618" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312824" "00221" "00421619" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312825" "00221" "00421620" "00006" "Familial, autosomal recessive" "" "PKU" "" "" "" "" "" "" "" "" "PKU" "PKU" "" "0000312826" "00221" "00421621" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312827" "00221" "00421622" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312828" "00221" "00421623" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312829" "00221" "00421624" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312830" "00221" "00421625" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312831" "00221" "00421626" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312832" "00221" "00421627" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312833" "00221" "00421628" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312834" "00221" "00421629" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312835" "00221" "00421630" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312836" "00221" "00421631" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312837" "00221" "00421632" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312838" "00221" "00421633" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312839" "00221" "00421634" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312840" "00221" "00421635" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312841" "00221" "00421636" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312842" "00221" "00421637" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312843" "00221" "00421638" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312844" "00221" "00421639" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312845" "00221" "00421640" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312846" "00221" "00421641" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312847" "00221" "00421642" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312848" "00221" "00421643" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312849" "00221" "00421644" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312850" "00221" "00421645" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312851" "00221" "00421646" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312852" "00221" "00421647" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312853" "00221" "00421648" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312854" "00221" "00421649" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312855" "00221" "00421650" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312856" "00221" "00421651" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312857" "00221" "00421652" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312858" "00221" "00421653" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312859" "00221" "00421654" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312860" "00221" "00421655" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312861" "00221" "00421656" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312862" "00221" "00421657" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312863" "00221" "00421658" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312864" "00221" "00421659" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312865" "00221" "00421660" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312866" "00221" "00421661" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312867" "00221" "00421662" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312868" "00221" "00421663" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312869" "00221" "00421664" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312870" "00221" "00421665" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312871" "00221" "00421666" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312872" "00221" "00421667" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312873" "00221" "00421668" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312874" "00221" "00421669" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312875" "00221" "00421670" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312876" "00221" "00421671" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312877" "00221" "00421672" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312878" "00221" "00421673" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312879" "00221" "00421674" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312880" "00221" "00421675" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312881" "00221" "00421676" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312882" "00221" "00421677" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312883" "00221" "00421678" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312884" "00221" "00421679" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312885" "00221" "00421680" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312886" "00221" "00421681" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312887" "00221" "00421682" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312888" "00221" "00421683" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312889" "00221" "00421684" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312890" "00221" "00421685" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312891" "00221" "00421686" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312892" "00221" "00421687" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312893" "00221" "00421688" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312894" "00221" "00421689" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312895" "00221" "00421690" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312896" "00221" "00421691" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312897" "00221" "00421692" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312898" "00221" "00421693" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312899" "00221" "00421694" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312900" "00221" "00421695" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312901" "00221" "00421696" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312902" "00221" "00421697" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312903" "00221" "00421698" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312904" "00221" "00421699" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312905" "00221" "00421700" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312906" "00221" "00421701" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312907" "00221" "00421702" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312908" "00221" "00421703" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312909" "00221" "00421704" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312910" "00221" "00421705" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312911" "00221" "00421706" "00006" "Familial, autosomal recessive" "" "PKU" "" "" "" "" "" "" "" "" "PKU" "PKU" "" "0000312912" "00221" "00421707" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312913" "00221" "00421708" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312914" "00221" "00421709" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312915" "00221" "00421710" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312916" "00221" "00421711" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312917" "00221" "00421712" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312918" "00221" "00421713" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312919" "00221" "00421714" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312920" "00221" "00421715" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312921" "00221" "00421716" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312922" "00221" "00421717" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312923" "00221" "00421718" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312924" "00221" "00421719" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312925" "00221" "00421720" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312926" "00221" "00421721" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312927" "00221" "00421722" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312928" "00221" "00421723" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312929" "00221" "00421724" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312930" "00221" "00421725" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312931" "00221" "00421726" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312932" "00221" "00421727" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312933" "00221" "00421728" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312934" "00221" "00421729" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312935" "00221" "00421730" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312936" "00221" "00421731" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312937" "00221" "00421732" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312938" "00221" "00421733" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312939" "00221" "00421734" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312940" "00221" "00421735" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312941" "00221" "00421736" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312942" "00221" "00421737" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312943" "00221" "00421738" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312944" "00221" "00421739" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312945" "00221" "00421740" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312946" "00221" "00421741" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312947" "00221" "00421742" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312948" "00221" "00421743" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312949" "00221" "00421744" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312950" "00221" "00421745" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312951" "00221" "00421746" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312952" "00221" "00421747" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312953" "00221" "00421748" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312954" "00221" "00421749" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312955" "00221" "00421750" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312956" "00221" "00421751" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312957" "00221" "00421752" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312958" "00221" "00421753" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312959" "00221" "00421754" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312960" "00221" "00421755" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312961" "00221" "00421756" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312962" "00221" "00421757" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312963" "00221" "00421758" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312964" "00221" "00421759" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312965" "00221" "00421760" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312966" "00221" "00421761" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312967" "00221" "00421762" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312968" "00221" "00421763" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312969" "00221" "00421764" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312970" "00221" "00421765" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312971" "00221" "00421766" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312972" "00221" "00421767" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312973" "00221" "00421768" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312974" "00221" "00421769" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312975" "00221" "00421770" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312976" "00221" "00421771" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312977" "00221" "00421772" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312978" "00221" "00421773" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312979" "00221" "00421774" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312980" "00221" "00421775" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312981" "00221" "00421776" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312982" "00221" "00421777" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312983" "00221" "00421778" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312984" "00221" "00421779" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312985" "00221" "00421780" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312986" "00221" "00421781" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312987" "00221" "00421782" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312988" "00221" "00421783" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312989" "00221" "00421784" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312990" "00221" "00421785" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312991" "00221" "00421786" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312992" "00221" "00421787" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312993" "00221" "00421788" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312994" "00221" "00421789" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000312995" "00221" "00421790" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000312996" "00221" "00421791" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312997" "00221" "00421792" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312998" "00221" "00421793" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000312999" "00221" "00421794" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313000" "00221" "00421795" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313001" "00221" "00421796" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313002" "00221" "00421797" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313003" "00221" "00421798" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313004" "00221" "00421799" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313005" "00221" "00421800" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313006" "00221" "00421801" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313007" "00221" "00421802" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313008" "00221" "00421803" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313009" "00221" "00421804" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313010" "00221" "00421805" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313011" "00221" "00421806" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313012" "00221" "00421807" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313013" "00221" "00421808" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313014" "00221" "00421809" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313015" "00221" "00421810" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313016" "00221" "00421811" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313017" "00221" "00421812" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313018" "00221" "00421813" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313019" "00221" "00421814" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313020" "00221" "00421815" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313021" "00221" "00421816" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313022" "00221" "00421817" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313023" "00221" "00421818" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313024" "00221" "00421819" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313025" "00221" "00421820" "00006" "Familial, autosomal recessive" "" "PKU" "" "" "" "" "" "" "" "" "PKU" "PKU" "" "0000313026" "00221" "00421821" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313027" "00221" "00421822" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313028" "00221" "00421823" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313029" "00221" "00421824" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313030" "00221" "00421825" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313031" "00221" "00421826" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313032" "00221" "00421827" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313033" "00221" "00421828" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313034" "00221" "00421829" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313035" "00221" "00421830" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313036" "00221" "00421831" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313037" "00221" "00421832" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313038" "00221" "00421833" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313039" "00221" "00421834" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313040" "00221" "00421835" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313041" "00221" "00421836" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313042" "00221" "00421837" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313043" "00221" "00421838" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313044" "00221" "00421839" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313045" "00221" "00421840" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313046" "00221" "00421841" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313047" "00221" "00421842" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313048" "00221" "00421843" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313049" "00221" "00421844" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313050" "00221" "00421845" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313051" "00221" "00421846" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313052" "00221" "00421847" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313053" "00221" "00421848" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313054" "00221" "00421849" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313055" "00221" "00421850" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313056" "00221" "00421851" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313057" "00221" "00421852" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313058" "00221" "00421853" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313059" "00221" "00421854" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313060" "00221" "00421855" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313061" "00221" "00421856" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313062" "00221" "00421857" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313063" "00221" "00421858" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313064" "00221" "00421859" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313065" "00221" "00421860" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313066" "00221" "00421861" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313067" "00221" "00421862" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313068" "00221" "00421863" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313069" "00221" "00421864" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313070" "00221" "00421865" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313071" "00221" "00421866" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313072" "00221" "00421867" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313073" "00221" "00421868" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313074" "00221" "00421869" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313075" "00221" "00421870" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313076" "00221" "00421871" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313077" "00221" "00421872" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313078" "00221" "00421873" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313079" "00221" "00421874" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313080" "00221" "00421875" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313081" "00221" "00421876" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313082" "00221" "00421877" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313083" "00221" "00421878" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313084" "00221" "00421879" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313085" "00221" "00421880" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313086" "00221" "00421881" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313087" "00221" "00421882" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313088" "00221" "00421883" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313089" "00221" "00421884" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313090" "00221" "00421885" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313091" "00221" "00421886" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313092" "00221" "00421887" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313093" "00221" "00421888" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313094" "00221" "00421889" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313095" "00221" "00421890" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313096" "00221" "00421891" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313097" "00221" "00421892" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313098" "00221" "00421893" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313099" "00221" "00421894" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313100" "00221" "00421895" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313101" "00221" "00421896" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313102" "00221" "00421897" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313103" "00221" "00421898" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313104" "00221" "00421899" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313105" "00221" "00421900" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313106" "00221" "00421901" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313107" "00221" "00421902" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313108" "00221" "00421903" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313109" "00221" "00421904" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313110" "00221" "00421905" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313111" "00221" "00421906" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313112" "00221" "00421907" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313113" "00221" "00421908" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313114" "00221" "00421909" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313115" "00221" "00421910" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313116" "00221" "00421911" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313117" "00221" "00421912" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313118" "00221" "00421913" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313119" "00221" "00421914" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313120" "00221" "00421915" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313121" "00221" "00421916" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313122" "00221" "00421917" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313123" "00221" "00421918" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313124" "00221" "00421919" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313125" "00221" "00421920" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313126" "00221" "00421921" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313127" "00221" "00421922" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313128" "00221" "00421923" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313129" "00221" "00421924" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313130" "00221" "00421925" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313131" "00221" "00421926" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313132" "00221" "00421927" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313133" "00221" "00421928" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313134" "00221" "00421929" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313135" "00221" "00421930" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313136" "00221" "00421931" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313137" "00221" "00421932" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313138" "00221" "00421933" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313139" "00221" "00421934" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313140" "00221" "00421935" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000313141" "00221" "00421936" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313142" "00221" "00421937" "00006" "Familial, autosomal recessive" "" "mild hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000313143" "00221" "00421938" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313144" "00221" "00421939" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313145" "00221" "00421940" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313146" "00221" "00421941" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000313206" "00221" "00422002" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313207" "00221" "00422003" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313208" "00221" "00422004" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313209" "00221" "00422005" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313210" "00221" "00422006" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313211" "00221" "00422007" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313212" "00221" "00422008" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313213" "00221" "00422009" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313214" "00221" "00422010" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313215" "00221" "00422011" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313216" "00221" "00422012" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313217" "00221" "00422013" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313218" "00221" "00422014" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313219" "00221" "00422015" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313220" "00221" "00422016" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313221" "00221" "00422017" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313222" "00221" "00422018" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313223" "00221" "00422019" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313224" "00221" "00422020" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313225" "00221" "00422021" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313226" "00221" "00422022" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313227" "00221" "00422023" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313228" "00221" "00422024" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313229" "00221" "00422025" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313230" "00221" "00422026" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313231" "00221" "00422027" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313232" "00221" "00422028" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313233" "00221" "00422029" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313234" "00221" "00422030" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313235" "00221" "00422031" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313236" "00221" "00422032" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313237" "00221" "00422033" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313238" "00221" "00422034" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313239" "00221" "00422035" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313240" "00221" "00422036" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313241" "00221" "00422037" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313242" "00221" "00422038" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313243" "00221" "00422039" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313244" "00221" "00422040" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313245" "00221" "00422041" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313246" "00221" "00422042" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313247" "00221" "00422043" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313248" "00221" "00422044" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313249" "00221" "00422045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313250" "00221" "00422046" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313251" "00221" "00422047" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313252" "00221" "00422048" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313253" "00221" "00422049" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313254" "00221" "00422050" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313255" "00221" "00422051" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313256" "00221" "00422052" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313257" "00221" "00422053" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313258" "00221" "00422054" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313259" "00221" "00422055" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313260" "00221" "00422056" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313261" "00221" "00422057" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313262" "00221" "00422058" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313263" "00221" "00422059" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313264" "00221" "00422060" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313265" "00221" "00422061" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313266" "00221" "00422062" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313267" "00221" "00422063" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313268" "00221" "00422064" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313269" "00221" "00422065" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313270" "00221" "00422066" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313271" "00221" "00422067" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313272" "00221" "00422068" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313273" "00221" "00422069" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313274" "00221" "00422070" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313275" "00221" "00422071" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313276" "00221" "00422072" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313277" "00221" "00422073" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313278" "00221" "00422074" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313279" "00221" "00422075" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313280" "00221" "00422076" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313281" "00221" "00422077" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313282" "00221" "00422078" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313283" "00221" "00422079" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313284" "00221" "00422080" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313285" "00221" "00422081" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313286" "00221" "00422082" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313287" "00221" "00422083" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313288" "00221" "00422084" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313289" "00221" "00422085" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313290" "00221" "00422086" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313291" "00221" "00422087" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313292" "00221" "00422088" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313293" "00221" "00422089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313294" "00221" "00422090" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313295" "00221" "00422091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313296" "00221" "00422092" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313297" "00221" "00422093" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313298" "00221" "00422094" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313299" "00221" "00422095" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313300" "00221" "00422096" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313301" "00221" "00422097" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313302" "00221" "00422098" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313303" "00221" "00422099" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313304" "00221" "00422100" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313305" "00221" "00422101" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313306" "00221" "00422102" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313307" "00221" "00422103" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313308" "00221" "00422104" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313309" "00221" "00422105" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313310" "00221" "00422106" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313311" "00221" "00422107" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313312" "00221" "00422108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313313" "00221" "00422109" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313314" "00221" "00422110" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313315" "00221" "00422111" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313316" "00221" "00422112" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313317" "00221" "00422113" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313318" "00221" "00422114" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313319" "00221" "00422115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313320" "00221" "00422116" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313321" "00221" "00422117" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313322" "00221" "00422118" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313323" "00221" "00422119" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313324" "00221" "00422120" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313325" "00221" "00422121" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313326" "00221" "00422122" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313327" "00221" "00422123" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313328" "00221" "00422124" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313329" "00221" "00422125" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313330" "00221" "00422126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313331" "00221" "00422127" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313332" "00221" "00422128" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313333" "00221" "00422129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313334" "00221" "00422130" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313335" "00221" "00422131" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313336" "00221" "00422132" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313337" "00221" "00422133" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313338" "00221" "00422134" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313339" "00221" "00422135" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313340" "00221" "00422136" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313341" "00221" "00422137" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313342" "00221" "00422138" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313343" "00221" "00422139" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313344" "00221" "00422140" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313345" "00221" "00422141" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313346" "00221" "00422142" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313347" "00221" "00422143" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313348" "00221" "00422144" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313349" "00221" "00422145" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313350" "00221" "00422146" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313351" "00221" "00422147" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313352" "00221" "00422148" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313353" "00221" "00422149" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313354" "00221" "00422150" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313355" "00221" "00422151" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313356" "00221" "00422152" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313357" "00221" "00422153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313358" "00221" "00422154" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313359" "00221" "00422155" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313360" "00221" "00422156" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313361" "00221" "00422157" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313362" "00221" "00422158" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313363" "00221" "00422159" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313364" "00221" "00422160" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313365" "00221" "00422161" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313366" "00221" "00422162" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313367" "00221" "00422163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313368" "00221" "00422164" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313369" "00221" "00422165" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313370" "00221" "00422166" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313371" "00221" "00422167" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313372" "00221" "00422168" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313373" "00221" "00422169" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313374" "00221" "00422170" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313375" "00221" "00422171" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313376" "00221" "00422172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313377" "00221" "00422173" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313378" "00221" "00422174" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313379" "00221" "00422175" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313380" "00221" "00422176" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313381" "00221" "00422177" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313382" "00221" "00422178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313383" "00221" "00422179" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313384" "00221" "00422180" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313385" "00221" "00422181" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313386" "00221" "00422182" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313387" "00221" "00422183" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313388" "00221" "00422184" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313389" "00221" "00422185" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313390" "00221" "00422186" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313391" "00221" "00422187" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313392" "00221" "00422188" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313393" "00221" "00422189" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313394" "00221" "00422190" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313395" "00221" "00422191" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313396" "00221" "00422192" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313397" "00221" "00422193" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313398" "00221" "00422194" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313399" "00221" "00422195" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313400" "00221" "00422196" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313401" "00221" "00422197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313402" "00221" "00422198" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313403" "00221" "00422199" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313404" "00221" "00422200" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313405" "00221" "00422201" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313406" "00221" "00422202" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313407" "00221" "00422203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313408" "00221" "00422204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313409" "00221" "00422205" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313410" "00221" "00422206" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313411" "00221" "00422207" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313412" "00221" "00422208" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313413" "00221" "00422209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313414" "00221" "00422210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313415" "00221" "00422211" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313416" "00221" "00422212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313417" "00221" "00422213" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313418" "00221" "00422214" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313419" "00221" "00422215" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313420" "00221" "00422216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313421" "00221" "00422217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313422" "00221" "00422218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313423" "00221" "00422219" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313424" "00221" "00422220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000313425" "00221" "00422221" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316204" "00221" "00425023" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316205" "00221" "00425024" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316206" "00221" "00425025" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316207" "00221" "00425026" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316208" "00221" "00425027" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316209" "00221" "00425028" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316210" "00221" "00425029" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316211" "00221" "00425030" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316212" "00221" "00425031" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316213" "00221" "00425032" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316214" "00221" "00425033" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316215" "00221" "00425034" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316216" "00221" "00425035" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316217" "00221" "00425036" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316218" "00221" "00425037" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316219" "00221" "00425038" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316220" "00221" "00425039" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316221" "00221" "00425040" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316222" "00221" "00425041" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316223" "00221" "00425042" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316224" "00221" "00425043" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316225" "00221" "00425044" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316226" "00221" "00425045" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316227" "00221" "00425046" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316228" "00221" "00425047" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316229" "00221" "00425048" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316230" "00221" "00425049" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316231" "00221" "00425050" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316232" "00221" "00425051" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316233" "00221" "00425052" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316234" "00221" "00425053" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316235" "00221" "00425054" "00006" "Familial, autosomal recessive" "" "serum Phe 6.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316236" "00221" "00425055" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316237" "00221" "00425056" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316238" "00221" "00425057" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316239" "00221" "00425058" "00006" "Familial, autosomal recessive" "" "serum Phe 15.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316240" "00221" "00425059" "00006" "Familial, autosomal recessive" "" "serum Phe 11.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316241" "00221" "00425060" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316242" "00221" "00425061" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316243" "00221" "00425062" "00006" "Familial, autosomal recessive" "" "serum Phe 10.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316244" "00221" "00425063" "00006" "Familial, autosomal recessive" "" "serum Phe 14.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316245" "00221" "00425064" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316246" "00221" "00425065" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316247" "00221" "00425066" "00006" "Familial, autosomal recessive" "" "serum Phe 31 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316248" "00221" "00425067" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316249" "00221" "00425068" "00006" "Familial, autosomal recessive" "" "serum Phe 31.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316250" "00221" "00425069" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316251" "00221" "00425070" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316252" "00221" "00425071" "00006" "Familial, autosomal recessive" "" "serum Phe 8.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316253" "00221" "00425072" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316254" "00221" "00425073" "00006" "Familial, autosomal recessive" "" "serum Phe 11 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316255" "00221" "00425074" "00006" "Familial, autosomal recessive" "" "serum Phe 37 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316256" "00221" "00425075" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316257" "00221" "00425076" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316258" "00221" "00425077" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316259" "00221" "00425078" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316260" "00221" "00425079" "00006" "Familial, autosomal recessive" "" "serum Phe 22.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316261" "00221" "00425080" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316262" "00221" "00425081" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316263" "00221" "00425082" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316264" "00221" "00425083" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316265" "00221" "00425084" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316266" "00221" "00425085" "00006" "Familial, autosomal recessive" "" "serum Phe 37 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316267" "00221" "00425086" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316268" "00221" "00425087" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316269" "00221" "00425088" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316270" "00221" "00425089" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316271" "00221" "00425090" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316272" "00221" "00425091" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316273" "00221" "00425092" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316274" "00221" "00425093" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316275" "00221" "00425094" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316276" "00221" "00425095" "00006" "Familial, autosomal recessive" "" "serum Phe 14.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316277" "00221" "00425096" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316278" "00221" "00425097" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316279" "00221" "00425098" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316280" "00221" "00425099" "00006" "Familial, autosomal recessive" "" "serum Phe 35 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316281" "00221" "00425100" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316282" "00221" "00425101" "00006" "Familial, autosomal recessive" "12y" "serum Phe 25 mg/dl; mental retardation due to delayed PKU diagnosis" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316283" "00221" "00425102" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316284" "00221" "00425103" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316285" "00221" "00425104" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316286" "00221" "00425105" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316287" "00221" "00425106" "00006" "Familial, autosomal recessive" "" "serum Phe 13 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316288" "00221" "00425107" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316289" "00221" "00425108" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316290" "00221" "00425109" "00006" "Familial, autosomal recessive" "" "serum Phe 27 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316291" "00221" "00425110" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316292" "00221" "00425111" "00006" "Familial, autosomal recessive" "" "serum Phe 23.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316293" "00221" "00425112" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316294" "00221" "00425113" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316295" "00221" "00425114" "00006" "Familial, autosomal recessive" "" "serum Phe 28 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316296" "00221" "00425115" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316297" "00221" "00425116" "00006" "Familial, autosomal recessive" "" "serum Phe 30 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316298" "00221" "00425117" "00006" "Familial, autosomal recessive" "" "serum Phe 30 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316299" "00221" "00425118" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316300" "00221" "00425119" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316301" "00221" "00425120" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316302" "00221" "00425121" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316303" "00221" "00425122" "00006" "Familial, autosomal recessive" "" "serum Phe 9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316304" "00221" "00425123" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316305" "00221" "00425124" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316306" "00221" "00425125" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316307" "00221" "00425126" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316308" "00221" "00425127" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316309" "00221" "00425128" "00006" "Familial, autosomal recessive" "" "serum Phe 53 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316310" "00221" "00425129" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316311" "00221" "00425130" "00006" "Familial, autosomal recessive" "" "serum Phe 32 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316312" "00221" "00425131" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316313" "00221" "00425132" "00006" "Familial, autosomal recessive" "" "serum Phe 13.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316314" "00221" "00425133" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316315" "00221" "00425134" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316316" "00221" "00425135" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316317" "00221" "00425136" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316318" "00221" "00425137" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316319" "00221" "00425138" "00006" "Familial, autosomal recessive" "" "serum Phe 10 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316320" "00221" "00425139" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316321" "00221" "00425140" "00006" "Familial, autosomal recessive" "" "serum Phe 4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316322" "00221" "00425141" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316323" "00221" "00425142" "00006" "Familial, autosomal recessive" "" "serum Phe 16.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316324" "00221" "00425143" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316325" "00221" "00425144" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316326" "00221" "00425145" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316327" "00221" "00425146" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316328" "00221" "00425147" "00006" "Familial, autosomal recessive" "" "serum Phe 2.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316329" "00221" "00425148" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316330" "00221" "00425149" "00006" "Familial, autosomal recessive" "" "serum Phe 3.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316331" "00221" "00425150" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316332" "00221" "00425151" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316333" "00221" "00425152" "00006" "Familial, autosomal recessive" "" "serum Phe 5.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316334" "00221" "00425153" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316335" "00221" "00425154" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316336" "00221" "00425155" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316337" "00221" "00425156" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316338" "00221" "00425157" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316339" "00221" "00425158" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316340" "00221" "00425159" "00006" "Familial, autosomal recessive" "" "serum Phe 35 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316341" "00221" "00425160" "00006" "Familial, autosomal recessive" "" "serum Phe 11 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316342" "00221" "00425161" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316343" "00221" "00425162" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316344" "00221" "00425163" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316345" "00221" "00425164" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316346" "00221" "00425165" "00006" "Familial, autosomal recessive" "" "serum Phe 3.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316347" "00221" "00425166" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316348" "00221" "00425167" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316349" "00221" "00425168" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316350" "00221" "00425169" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316351" "00221" "00425170" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316352" "00221" "00425171" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316353" "00221" "00425172" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316354" "00221" "00425173" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316355" "00221" "00425174" "00006" "Familial, autosomal recessive" "" "serum Phe 3.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316356" "00221" "00425175" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316357" "00221" "00425176" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316358" "00221" "00425177" "00006" "Familial, autosomal recessive" "" "serum Phe 26 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316359" "00221" "00425178" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316360" "00221" "00425179" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316361" "00221" "00425180" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316362" "00221" "00425181" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316363" "00221" "00425182" "00006" "Familial, autosomal recessive" "" "serum Phe 28 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316364" "00221" "00425183" "00006" "Familial, autosomal recessive" "" "serum Phe 9.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316365" "00221" "00425184" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316366" "00221" "00425185" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316367" "00221" "00425186" "00006" "Familial, autosomal recessive" "" "serum Phe 23.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316368" "00221" "00425187" "00006" "Familial, autosomal recessive" "" "serum Phe 27.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316369" "00221" "00425188" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316370" "00221" "00425189" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316371" "00221" "00425190" "00006" "Familial, autosomal recessive" "" "serum Phe 30 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316372" "00221" "00425191" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316373" "00221" "00425192" "00006" "Familial, autosomal recessive" "" "serum Phe 45 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316374" "00221" "00425193" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316375" "00221" "00425194" "00006" "Familial, autosomal recessive" "" "serum Phe 7.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316376" "00221" "00425195" "00006" "Familial, autosomal recessive" "" "serum Phe 63.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316377" "00221" "00425196" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316378" "00221" "00425197" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316379" "00221" "00425198" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316380" "00221" "00425199" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316381" "00221" "00425200" "00006" "Familial, autosomal recessive" "" "serum Phe 19 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316382" "00221" "00425201" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316383" "00221" "00425202" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316384" "00221" "00425203" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316385" "00221" "00425204" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316386" "00221" "00425205" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316387" "00221" "00425206" "00006" "Familial, autosomal recessive" "" "serum Phe 15.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316388" "00221" "00425207" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316389" "00221" "00425208" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316390" "00221" "00425209" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316391" "00221" "00425210" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316392" "00221" "00425211" "00006" "Familial, autosomal recessive" "" "serum Phe 18.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316393" "00221" "00425212" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316394" "00221" "00425213" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316395" "00221" "00425214" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316396" "00221" "00425215" "00006" "Familial, autosomal recessive" "" "serum Phe 10.7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316397" "00221" "00425216" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316398" "00221" "00425217" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316399" "00221" "00425218" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316400" "00221" "00425219" "00006" "Familial, autosomal recessive" "" "serum Phe 9.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316401" "00221" "00425220" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316402" "00221" "00425221" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316403" "00221" "00425222" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316404" "00221" "00425223" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316405" "00221" "00425224" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316406" "00221" "00425225" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316407" "00221" "00425226" "00006" "Familial, autosomal recessive" "" "serum Phe 6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316408" "00221" "00425227" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316409" "00221" "00425228" "00006" "Familial, autosomal recessive" "" "serum Phe 9.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316410" "00221" "00425229" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316411" "00221" "00425230" "00006" "Familial, autosomal recessive" "" "serum Phe 26 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316412" "00221" "00425231" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316413" "00221" "00425232" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316414" "00221" "00425233" "00006" "Familial, autosomal recessive" "" "serum Phe 2.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316415" "00221" "00425234" "00006" "Familial, autosomal recessive" "" "serum Phe 7.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316416" "00221" "00425235" "00006" "Familial, autosomal recessive" "" "serum Phe 33 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316417" "00221" "00425236" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316418" "00221" "00425237" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316419" "00221" "00425238" "00006" "Familial, autosomal recessive" "" "serum Phe 4.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316420" "00221" "00425239" "00006" "Familial, autosomal recessive" "" "serum Phe 16.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316421" "00221" "00425240" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316422" "00221" "00425241" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316423" "00221" "00425242" "00006" "Familial, autosomal recessive" "" "serum Phe 20.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316424" "00221" "00425243" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316425" "00221" "00425244" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316426" "00221" "00425245" "00006" "Familial, autosomal recessive" "" "serum Phe 15.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316427" "00221" "00425246" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316428" "00221" "00425247" "00006" "Familial, autosomal recessive" "" "serum Phe 7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316429" "00221" "00425248" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316430" "00221" "00425249" "00006" "Familial, autosomal recessive" "" "serum Phe 14.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316431" "00221" "00425250" "00006" "Familial, autosomal recessive" "" "serum Phe 3.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316432" "00221" "00425251" "00006" "Familial, autosomal recessive" "" "serum Phe 5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316433" "00221" "00425252" "00006" "Familial, autosomal recessive" "" "serum Phe 9.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316434" "00221" "00425253" "00006" "Familial, autosomal recessive" "" "serum Phe 5.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316435" "00221" "00425254" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316436" "00221" "00425255" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316437" "00221" "00425256" "00006" "Familial, autosomal recessive" "" "serum Phe 28.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316438" "00221" "00425257" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316439" "00221" "00425258" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316440" "00221" "00425259" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316441" "00221" "00425260" "00006" "Familial, autosomal recessive" "" "serum Phe 14.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316442" "00221" "00425261" "00006" "Familial, autosomal recessive" "" "serum Phe 3.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316443" "00221" "00425262" "00006" "Familial, autosomal recessive" "" "serum Phe 4.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316444" "00221" "00425263" "00006" "Familial, autosomal recessive" "" "serum Phe 15.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316445" "00221" "00425264" "00006" "Familial, autosomal recessive" "" "serum Phe 14 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316446" "00221" "00425265" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316447" "00221" "00425266" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316448" "00221" "00425267" "00006" "Familial, autosomal recessive" "" "serum Phe 16.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316449" "00221" "00425268" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316450" "00221" "00425269" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316451" "00221" "00425270" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316452" "00221" "00425271" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316453" "00221" "00425272" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316454" "00221" "00425273" "00006" "Familial, autosomal recessive" "" "serum Phe 4.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316455" "00221" "00425274" "00006" "Familial, autosomal recessive" "" "serum Phe 8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316456" "00221" "00425275" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316457" "00221" "00425276" "00006" "Familial, autosomal recessive" "" "serum Phe 11.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316458" "00221" "00425277" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316459" "00221" "00425278" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316460" "00221" "00425279" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316461" "00221" "00425280" "00006" "Familial, autosomal recessive" "" "serum Phe 30.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316462" "00221" "00425281" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316463" "00221" "00425282" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316464" "00221" "00425283" "00006" "Familial, autosomal recessive" "" "serum Phe 14.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316465" "00221" "00425284" "00006" "Familial, autosomal recessive" "" "serum Phe 4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316466" "00221" "00425285" "00006" "Familial, autosomal recessive" "" "serum Phe 6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316467" "00221" "00425286" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316468" "00221" "00425287" "00006" "Familial, autosomal recessive" "" "serum Phe 10.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316469" "00221" "00425288" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316470" "00221" "00425289" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316471" "00221" "00425290" "00006" "Familial, autosomal recessive" "" "serum Phe 4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316472" "00221" "00425291" "00006" "Familial, autosomal recessive" "" "serum Phe 10.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316473" "00221" "00425292" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316474" "00221" "00425293" "00006" "Familial, autosomal recessive" "" "serum Phe 15.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316475" "00221" "00425294" "00006" "Familial, autosomal recessive" "" "serum Phe 11.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316476" "00221" "00425295" "00006" "Familial, autosomal recessive" "" "serum Phe 8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316477" "00221" "00425296" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316478" "00221" "00425297" "00006" "Familial, autosomal recessive" "" "serum Phe 4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316479" "00221" "00425298" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316480" "00221" "00425299" "00006" "Familial, autosomal recessive" "" "serum Phe 33 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316481" "00221" "00425300" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316482" "00221" "00425301" "00006" "Familial, autosomal recessive" "" "serum Phe 3.48 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316483" "00221" "00425302" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316484" "00221" "00425303" "00006" "Familial, autosomal recessive" "" "serum Phe 11 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316485" "00221" "00425304" "00006" "Familial, autosomal recessive" "" "serum Phe 12.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316486" "00221" "00425305" "00006" "Familial, autosomal recessive" "" "serum Phe 40 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316487" "00221" "00425306" "00006" "Familial, autosomal recessive" "" "serum Phe 4.7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316488" "00221" "00425307" "00006" "Familial, autosomal recessive" "" "serum Phe 8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316489" "00221" "00425308" "00006" "Familial, autosomal recessive" "" "serum Phe 4.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316490" "00221" "00425309" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316491" "00221" "00425310" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316492" "00221" "00425311" "00006" "Familial, autosomal recessive" "" "serum Phe 21.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316493" "00221" "00425312" "00006" "Familial, autosomal recessive" "" "serum Phe 33 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316494" "00221" "00425313" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316495" "00221" "00425314" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316496" "00221" "00425315" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316497" "00221" "00425316" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316498" "00221" "00425317" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316499" "00221" "00425318" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316500" "00221" "00425319" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316501" "00221" "00425320" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316502" "00221" "00425321" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316503" "00221" "00425322" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316504" "00221" "00425323" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316505" "00221" "00425324" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316506" "00221" "00425325" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316507" "00221" "00425326" "00006" "Familial, autosomal recessive" "" "serum Phe 5.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316508" "00221" "00425327" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316509" "00221" "00425328" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316510" "00221" "00425329" "00006" "Familial, autosomal recessive" "" "serum Phe 4.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316511" "00221" "00425330" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316512" "00221" "00425331" "00006" "Familial, autosomal recessive" "" "serum Phe 46 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316513" "00221" "00425332" "00006" "Familial, autosomal recessive" "" "serum Phe 19 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316514" "00221" "00425333" "00006" "Familial, autosomal recessive" "" "serum Phe 7.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316515" "00221" "00425334" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316516" "00221" "00425335" "00006" "Familial, autosomal recessive" "" "serum Phe 80 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316517" "00221" "00425336" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316518" "00221" "00425337" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316519" "00221" "00425338" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316520" "00221" "00425339" "00006" "Familial, autosomal recessive" "" "serum Phe 7.25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316521" "00221" "00425340" "00006" "Familial, autosomal recessive" "" "serum Phe 19.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316522" "00221" "00425341" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316523" "00221" "00425342" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316524" "00221" "00425343" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316525" "00221" "00425344" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316526" "00221" "00425345" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316527" "00221" "00425346" "00006" "Familial, autosomal recessive" "" "serum Phe 4.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316528" "00221" "00425347" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316529" "00221" "00425348" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316530" "00221" "00425349" "00006" "Familial, autosomal recessive" "" "serum Phe 30 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316531" "00221" "00425350" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316532" "00221" "00425351" "00006" "Familial, autosomal recessive" "" "serum Phe 19 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316533" "00221" "00425352" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316534" "00221" "00425353" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316535" "00221" "00425354" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316536" "00221" "00425355" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316537" "00221" "00425356" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316538" "00221" "00425357" "00006" "Familial, autosomal recessive" "" "serum Phe 54 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316539" "00221" "00425358" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316540" "00221" "00425359" "00006" "Familial, autosomal recessive" "" "serum Phe 19 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316541" "00221" "00425360" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316542" "00221" "00425361" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316543" "00221" "00425362" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316544" "00221" "00425363" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316545" "00221" "00425364" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316546" "00221" "00425365" "00006" "Familial, autosomal recessive" "" "serum Phe 35 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316547" "00221" "00425366" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316548" "00221" "00425367" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316549" "00221" "00425368" "00006" "Familial, autosomal recessive" "" "serum Phe 8.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316550" "00221" "00425369" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316551" "00221" "00425370" "00006" "Familial, autosomal recessive" "" "reduced phenylalanine diet; 5m-muscular dysfunction, poor feeding, weakness, respiratory distress, suspected diagnosis of spinal muscular atrophy" "" "" "" "" "" "" "" "" "PKU;SMA" "phenylketonuria (newborn screening)" "" "0000316552" "00221" "00425371" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316553" "00221" "00425372" "00006" "Familial, autosomal recessive" "" "serum Phe 8.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316554" "00221" "00425373" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316555" "00221" "00425374" "00006" "Familial, autosomal recessive" "" "serum Phe 11.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316556" "00221" "00425375" "00006" "Familial, autosomal recessive" "" "serum Phe 16.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316557" "00221" "00425376" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316558" "00221" "00425377" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316559" "00221" "00425378" "00006" "Familial, autosomal recessive" "" "serum Phe 5.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316560" "00221" "00425379" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316561" "00221" "00425380" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316562" "00221" "00425381" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316563" "00221" "00425382" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316564" "00221" "00425383" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316565" "00221" "00425384" "00006" "Familial, autosomal recessive" "" "serum Phe 4.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316566" "00221" "00425385" "00006" "Familial, autosomal recessive" "" "serum Phe 6.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316567" "00221" "00425386" "00006" "Familial, autosomal recessive" "" "serum Phe 45 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316568" "00221" "00425387" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316569" "00221" "00425388" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316570" "00221" "00425389" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316571" "00221" "00425390" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316572" "00221" "00425391" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316573" "00221" "00425392" "00006" "Familial, autosomal recessive" "" "serum Phe 5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316574" "00221" "00425393" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316575" "00221" "00425394" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316576" "00221" "00425395" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316577" "00221" "00425396" "00006" "Familial, autosomal recessive" "" "serum Phe 10.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316578" "00221" "00425397" "00006" "Familial, autosomal recessive" "" "serum Phe 12.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316579" "00221" "00425398" "00006" "Familial, autosomal recessive" "" "serum Phe 6.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316580" "00221" "00425399" "00006" "Familial, autosomal recessive" "" "serum Phe 13 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316581" "00221" "00425400" "00006" "Familial, autosomal recessive" "" "serum Phe 39 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316582" "00221" "00425401" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316583" "00221" "00425402" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316584" "00221" "00425403" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316585" "00221" "00425404" "00006" "Familial, autosomal recessive" "" "serum Phe 13.7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316586" "00221" "00425405" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316587" "00221" "00425406" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316588" "00221" "00425407" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316589" "00221" "00425408" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316590" "00221" "00425409" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316591" "00221" "00425410" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316592" "00221" "00425411" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316593" "00221" "00425412" "00006" "Familial, autosomal recessive" "" "serum Phe 32 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316594" "00221" "00425413" "00006" "Familial, autosomal recessive" "" "serum Phe 6.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316595" "00221" "00425414" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316596" "00221" "00425415" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316597" "00221" "00425416" "00006" "Familial, autosomal recessive" "" "serum Phe 5.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316598" "00221" "00425417" "00006" "Familial, autosomal recessive" "" "serum Phe 35.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316599" "00221" "00425418" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316600" "00221" "00425419" "00006" "Familial, autosomal recessive" "" "serum Phe 5.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316601" "00221" "00425420" "00006" "Familial, autosomal recessive" "" "serum Phe 14 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316602" "00221" "00425421" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316603" "00221" "00425422" "00006" "Familial, autosomal recessive" "" "serum Phe 40 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316604" "00221" "00425423" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316605" "00221" "00425424" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316606" "00221" "00425425" "00006" "Familial, autosomal recessive" "" "serum Phe 17.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316607" "00221" "00425426" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316608" "00221" "00425427" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316609" "00221" "00425428" "00006" "Familial, autosomal recessive" "" "serum Phe 4.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316610" "00221" "00425429" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316611" "00221" "00425430" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316612" "00221" "00425431" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316613" "00221" "00425432" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316614" "00221" "00425433" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316615" "00221" "00425434" "00006" "Familial, autosomal recessive" "" "serum Phe 8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316616" "00221" "00425435" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316617" "00221" "00425436" "00006" "Familial, autosomal recessive" "" "serum Phe 32.93 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316618" "00221" "00425437" "00006" "Familial, autosomal recessive" "" "serum Phe 9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316619" "00221" "00425438" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316620" "00221" "00425439" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316621" "00221" "00425440" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316622" "00221" "00425441" "00006" "Familial, autosomal recessive" "" "serum Phe 2.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316623" "00221" "00425442" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316624" "00221" "00425443" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316625" "00221" "00425444" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316626" "00221" "00425445" "00006" "Familial, autosomal recessive" "" "serum Phe 3.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316627" "00221" "00425446" "00006" "Familial, autosomal recessive" "" "serum Phe 5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316628" "00221" "00425447" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316629" "00221" "00425448" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316630" "00221" "00425449" "00006" "Familial, autosomal recessive" "" "serum Phe 35 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316631" "00221" "00425450" "00006" "Familial, autosomal recessive" "" "serum Phe 6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316632" "00221" "00425451" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316633" "00221" "00425452" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316634" "00221" "00425453" "00006" "Familial, autosomal recessive" "" "serum Phe 11 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316635" "00221" "00425454" "00006" "Familial, autosomal recessive" "" "serum Phe 16.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316636" "00221" "00425455" "00006" "Familial, autosomal recessive" "" "serum Phe 19 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316637" "00221" "00425456" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316638" "00221" "00425457" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316639" "00221" "00425458" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316640" "00221" "00425459" "00006" "Familial, autosomal recessive" "" "serum Phe 24 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316641" "00221" "00425460" "00006" "Familial, autosomal recessive" "" "serum Phe 33 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316642" "00221" "00425461" "00006" "Familial, autosomal recessive" "" "serum Phe 10 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316643" "00221" "00425462" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316644" "00221" "00425463" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316645" "00221" "00425464" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316646" "00221" "00425465" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316647" "00221" "00425466" "00006" "Familial, autosomal recessive" "" "serum Phe 28 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316648" "00221" "00425467" "00006" "Familial, autosomal recessive" "" "serum Phe 16.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316649" "00221" "00425468" "00006" "Familial, autosomal recessive" "" "serum Phe 12.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316650" "00221" "00425469" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316651" "00221" "00425470" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316652" "00221" "00425471" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316653" "00221" "00425472" "00006" "Familial, autosomal recessive" "" "serum Phe 6.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316654" "00221" "00425473" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316655" "00221" "00425474" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316656" "00221" "00425475" "00006" "Familial, autosomal recessive" "" "serum Phe 26.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316657" "00221" "00425476" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316658" "00221" "00425477" "00006" "Familial, autosomal recessive" "" "serum Phe 17.7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316659" "00221" "00425478" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316660" "00221" "00425479" "00006" "Familial, autosomal recessive" "" "serum Phe 13.7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316661" "00221" "00425480" "00006" "Familial, autosomal recessive" "" "serum Phe 3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316662" "00221" "00425481" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316663" "00221" "00425482" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316664" "00221" "00425483" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316665" "00221" "00425484" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316666" "00221" "00425485" "00006" "Familial, autosomal recessive" "" "serum Phe 11 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316667" "00221" "00425486" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316668" "00221" "00425487" "00006" "Familial, autosomal recessive" "" "serum Phe 22.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316669" "00221" "00425488" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316670" "00221" "00425489" "00006" "Familial, autosomal recessive" "" "serum Phe 6.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316671" "00221" "00425490" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316672" "00221" "00425491" "00006" "Familial, autosomal recessive" "" "serum Phe 8.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316673" "00221" "00425492" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316674" "00221" "00425493" "00006" "Familial, autosomal recessive" "" "serum Phe 27 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316675" "00221" "00425494" "00006" "Familial, autosomal recessive" "" "serum Phe 3.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316676" "00221" "00425495" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316677" "00221" "00425496" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316678" "00221" "00425497" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316679" "00221" "00425498" "00006" "Familial, autosomal recessive" "" "serum Phe 18 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316680" "00221" "00425499" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316681" "00221" "00425500" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316682" "00221" "00425501" "00006" "Familial, autosomal recessive" "" "serum Phe 22.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316683" "00221" "00425502" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316684" "00221" "00425503" "00006" "Familial, autosomal recessive" "" "serum Phe 26 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316685" "00221" "00425504" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316686" "00221" "00425505" "00006" "Familial, autosomal recessive" "" "serum Phe 13 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316687" "00221" "00425506" "00006" "Familial, autosomal recessive" "" "serum Phe 30.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316688" "00221" "00425507" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316689" "00221" "00425508" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316690" "00221" "00425509" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316691" "00221" "00425510" "00006" "Familial, autosomal recessive" "" "serum Phe 25 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316692" "00221" "00425511" "00006" "Familial, autosomal recessive" "" "serum Phe 11 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316693" "00221" "00425512" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316694" "00221" "00425513" "00006" "Familial, autosomal recessive" "" "serum Phe 19 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316695" "00221" "00425514" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316696" "00221" "00425515" "00006" "Familial, autosomal recessive" "" "serum Phe 11.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316697" "00221" "00425516" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316698" "00221" "00425517" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316699" "00221" "00425518" "00006" "Familial, autosomal recessive" "" "serum Phe 38.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316700" "00221" "00425519" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316701" "00221" "00425520" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316702" "00221" "00425521" "00006" "Familial, autosomal recessive" "" "serum Phe 7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316703" "00221" "00425522" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316704" "00221" "00425523" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316705" "00221" "00425524" "00006" "Familial, autosomal recessive" "" "serum Phe 3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316706" "00221" "00425525" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316707" "00221" "00425526" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316708" "00221" "00425527" "00006" "Familial, autosomal recessive" "" "serum Phe 46 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316709" "00221" "00425528" "00006" "Familial, autosomal recessive" "" "serum Phe 10 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316710" "00221" "00425529" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316711" "00221" "00425530" "00006" "Familial, autosomal recessive" "" "serum Phe 37 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316712" "00221" "00425531" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316713" "00221" "00425532" "00006" "Familial, autosomal recessive" "" "serum Phe 26 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316714" "00221" "00425533" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316715" "00221" "00425534" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316716" "00221" "00425535" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316717" "00221" "00425536" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316718" "00221" "00425537" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316719" "00221" "00425538" "00006" "Familial, autosomal recessive" "" "serum Phe 4.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316720" "00221" "00425539" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316721" "00221" "00425540" "00006" "Familial, autosomal recessive" "" "serum Phe 26 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316722" "00221" "00425541" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316723" "00221" "00425542" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316724" "00221" "00425543" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316725" "00221" "00425544" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316726" "00221" "00425545" "00006" "Familial, autosomal recessive" "" "serum Phe 4.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316727" "00221" "00425546" "00006" "Familial, autosomal recessive" "" "serum Phe 31 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316728" "00221" "00425547" "00006" "Familial, autosomal recessive" "" "serum Phe 10.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316729" "00221" "00425548" "00006" "Familial, autosomal recessive" "" "serum Phe 4.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316730" "00221" "00425549" "00006" "Familial, autosomal recessive" "" "serum Phe 9.7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316731" "00221" "00425550" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316732" "00221" "00425551" "00006" "Familial, autosomal recessive" "" "serum Phe 27 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316733" "00221" "00425552" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316734" "00221" "00425553" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316735" "00221" "00425554" "00006" "Familial, autosomal recessive" "" "serum Phe 13.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316736" "00221" "00425555" "00006" "Familial, autosomal recessive" "" "serum Phe 15 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316737" "00221" "00425556" "00006" "Familial, autosomal recessive" "" "serum Phe 9.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316738" "00221" "00425557" "00006" "Familial, autosomal recessive" "" "serum Phe 13.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316739" "00221" "00425558" "00006" "Familial, autosomal recessive" "" "serum Phe 18.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316740" "00221" "00425559" "00006" "Familial, autosomal recessive" "" "serum Phe 5.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316741" "00221" "00425560" "00006" "Familial, autosomal recessive" "" "serum Phe 9.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316742" "00221" "00425561" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316743" "00221" "00425562" "00006" "Familial, autosomal recessive" "" "serum Phe 7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316744" "00221" "00425563" "00006" "Familial, autosomal recessive" "" "serum Phe 12.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316745" "00221" "00425564" "00006" "Familial, autosomal recessive" "" "serum Phe 35 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316746" "00221" "00425565" "00006" "Familial, autosomal recessive" "" "serum Phe 7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316747" "00221" "00425566" "00006" "Familial, autosomal recessive" "" "serum Phe 4.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316748" "00221" "00425567" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316749" "00221" "00425568" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316750" "00221" "00425569" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316751" "00221" "00425570" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316752" "00221" "00425571" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316753" "00221" "00425572" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316754" "00221" "00425573" "00006" "Familial, autosomal recessive" "" "serum Phe 14.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316755" "00221" "00425574" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316756" "00221" "00425575" "00006" "Familial, autosomal recessive" "" "serum Phe 5.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316757" "00221" "00425576" "00006" "Familial, autosomal recessive" "" "serum Phe 32.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316758" "00221" "00425577" "00006" "Familial, autosomal recessive" "" "serum Phe 4.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316759" "00221" "00425578" "00006" "Familial, autosomal recessive" "" "serum Phe 23 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316760" "00221" "00425579" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316761" "00221" "00425580" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316762" "00221" "00425581" "00006" "Familial, autosomal recessive" "" "serum Phe 27.3 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316763" "00221" "00425582" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316764" "00221" "00425583" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316765" "00221" "00425584" "00006" "Familial, autosomal recessive" "" "serum Phe 12 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316766" "00221" "00425585" "00006" "Familial, autosomal recessive" "" "serum Phe 40 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316767" "00221" "00425586" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316768" "00221" "00425587" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316769" "00221" "00425588" "00006" "Familial, autosomal recessive" "" "serum Phe 4.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316770" "00221" "00425589" "00006" "Familial, autosomal recessive" "" "serum Phe 10 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316771" "00221" "00425590" "00006" "Familial, autosomal recessive" "" "serum Phe 30 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316772" "00221" "00425591" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316773" "00221" "00425592" "00006" "Familial, autosomal recessive" "" "serum Phe 21 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316774" "00221" "00425593" "00006" "Familial, autosomal recessive" "" "serum Phe 18.9 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316775" "00221" "00425594" "00006" "Familial, autosomal recessive" "" "serum Phe 11.6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316776" "00221" "00425595" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316777" "00221" "00425596" "00006" "Familial, autosomal recessive" "" "serum Phe 4.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316778" "00221" "00425597" "00006" "Familial, autosomal recessive" "" "serum Phe 9.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316779" "00221" "00425598" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316780" "00221" "00425599" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316781" "00221" "00425600" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316782" "00221" "00425601" "00006" "Familial, autosomal recessive" "" "serum Phe 7 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316783" "00221" "00425602" "00006" "Familial, autosomal recessive" "" "serum Phe 8.4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316784" "00221" "00425603" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316785" "00221" "00425604" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316786" "00221" "00425605" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316787" "00221" "00425606" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316788" "00221" "00425607" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316789" "00221" "00425608" "00006" "Familial, autosomal recessive" "" "serum Phe 4.8 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316790" "00221" "00425609" "00006" "Familial, autosomal recessive" "" "serum Phe 13 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316791" "00221" "00425610" "00006" "Familial, autosomal recessive" "" "serum Phe 40 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316792" "00221" "00425611" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316793" "00221" "00425612" "00006" "Familial, autosomal recessive" "" "serum Phe 13 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316794" "00221" "00425613" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316795" "00221" "00425614" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316796" "00221" "00425615" "00006" "Familial, autosomal recessive" "" "serum Phe 32 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316797" "00221" "00425616" "00006" "Familial, autosomal recessive" "" "serum Phe 3.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316798" "00221" "00425617" "00006" "Familial, autosomal recessive" "" "serum Phe 49 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316799" "00221" "00425618" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316800" "00221" "00425619" "00006" "Familial, autosomal recessive" "" "serum Phe 4 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316801" "00221" "00425620" "00006" "Familial, autosomal recessive" "" "serum Phe 1.2 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316802" "00221" "00425621" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316803" "00221" "00425622" "00006" "Familial, autosomal recessive" "" "serum Phe 17 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316804" "00221" "00425623" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316805" "00221" "00425624" "00006" "Familial, autosomal recessive" "" "serum Phe 10 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316806" "00221" "00425625" "00006" "Familial, autosomal recessive" "" "serum Phe 31 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316807" "00221" "00425626" "00006" "Familial, autosomal recessive" "" "serum Phe 20.1 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316808" "00221" "00425627" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316809" "00221" "00425628" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316810" "00221" "00425629" "00006" "Familial, autosomal recessive" "" "serum Phe 5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316811" "00221" "00425630" "00006" "Familial, autosomal recessive" "" "serum Phe 12.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316812" "00221" "00425631" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316813" "00221" "00425632" "00006" "Familial, autosomal recessive" "" "serum Phe 22 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316814" "00221" "00425633" "00006" "Familial, autosomal recessive" "" "serum Phe 31.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316815" "00221" "00425634" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316816" "00221" "00425635" "00006" "Familial, autosomal recessive" "" "serum Phe 13.5 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316817" "00221" "00425636" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316818" "00221" "00425637" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316819" "00221" "00425638" "00006" "Familial, autosomal recessive" "" "serum Phe 10 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316820" "00221" "00425639" "00006" "Familial, autosomal recessive" "" "serum Phe 6 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316821" "00221" "00425640" "00006" "Familial, autosomal recessive" "" "serum Phe 16 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316822" "00221" "00425641" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316823" "00221" "00425642" "00006" "Familial, autosomal recessive" "" "serum Phe 43 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316824" "00221" "00425643" "00006" "Familial, autosomal recessive" "" "serum Phe 20 mg/dl" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316826" "00221" "00425651" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316827" "00221" "00425652" "00006" "Familial, autosomal recessive" "" "Phe 2044 umol/l in 2-3m child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316828" "00221" "00425653" "00006" "Familial, autosomal recessive" "" "Phe 2663 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316829" "00221" "00425654" "00006" "Familial, autosomal recessive" "" "Phe 2000 umol/l in 1-6y child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316830" "00221" "00425655" "00006" "Familial, autosomal recessive" "" "Phe 2409 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316831" "00221" "00425656" "00006" "Familial, autosomal recessive" "" "Phe 2470 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316832" "00221" "00425657" "00006" "Familial, autosomal recessive" "" "Phe 2652 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316833" "00221" "00425658" "00006" "Familial, autosomal recessive" "" "Phe 2900 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316834" "00221" "00425659" "00006" "Familial, autosomal recessive" "" "Phe 3060 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316835" "00221" "00425660" "00006" "Familial, autosomal recessive" "" "Phe 2143 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316836" "00221" "00425661" "00006" "Familial, autosomal recessive" "" "Phe 2760 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316837" "00221" "00425662" "00006" "Familial, autosomal recessive" "" "Phe 3000 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316838" "00221" "00425663" "00006" "Familial, autosomal recessive" "" "Phe 3450 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316839" "00221" "00425664" "00006" "Familial, autosomal recessive" "" "Phe 3693 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316840" "00221" "00425665" "00006" "Familial, autosomal recessive" "" "Phe 1041 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316841" "00221" "00425666" "00006" "Familial, autosomal recessive" "" "Phe 1422 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316842" "00221" "00425667" "00006" "Familial, autosomal recessive" "" "Phe 920 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316843" "00221" "00425668" "00006" "Familial, autosomal recessive" "" "Phe 1350 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316844" "00221" "00425669" "00006" "Familial, autosomal recessive" "" "Phe 1636 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316845" "00221" "00425670" "00006" "Familial, autosomal recessive" "" "Phe 1638 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316846" "00221" "00425671" "00006" "Familial, autosomal recessive" "" "Phe 2046 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316847" "00221" "00425672" "00006" "Familial, autosomal recessive" "" "Phe 3000 umol/l in 4-12m child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316848" "00221" "00425673" "00006" "Familial, autosomal recessive" "" "Phe 2220 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316849" "00221" "00425674" "00006" "Familial, autosomal recessive" "" "Phe 2350 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316850" "00221" "00425675" "00006" "Familial, autosomal recessive" "" "Phe 4260 umol/l in 2-3m child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316851" "00221" "00425676" "00006" "Familial, autosomal recessive" "" "Phe 2196 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316852" "00221" "00425677" "00006" "Familial, autosomal recessive" "" "Phe 2300 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316853" "00221" "00425678" "00006" "Familial, autosomal recessive" "" "Phe 2357 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316854" "00221" "00425679" "00006" "Familial, autosomal recessive" "" "Phe 2559 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316855" "00221" "00425680" "00006" "Familial, autosomal recessive" "" "Phe 2246 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316856" "00221" "00425681" "00006" "Familial, autosomal recessive" "" "Phe 1592 umol/l in 1-6y child" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316857" "00221" "00425682" "00006" "Familial, autosomal recessive" "" "Phe 2400 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316858" "00221" "00425683" "00006" "Familial, autosomal recessive" "" "Phe 1890 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316859" "00221" "00425684" "00006" "Familial, autosomal recessive" "" "Phe 1634 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316860" "00221" "00425685" "00006" "Familial, autosomal recessive" "" "Phe 1796 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316861" "00221" "00425686" "00006" "Familial, autosomal recessive" "" "Phe 1980 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316862" "00221" "00425687" "00006" "Familial, autosomal recessive" "" "Phe 3000 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316863" "00221" "00425688" "00006" "Familial, autosomal recessive" "" "Phe 1700 umol/l in 1-6y child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316864" "00221" "00425689" "00006" "Familial, autosomal recessive" "" "Phe 1980 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316865" "00221" "00425690" "00006" "Familial, autosomal recessive" "" "Phe 2106 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316866" "00221" "00425691" "00006" "Familial, autosomal recessive" "" "Phe 2460 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316867" "00221" "00425692" "00006" "Familial, autosomal recessive" "" "Phe 2670 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316868" "00221" "00425693" "00006" "Familial, autosomal recessive" "" "Phe 1144 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316869" "00221" "00425694" "00006" "Familial, autosomal recessive" "" "Phe 780 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316870" "00221" "00425695" "00006" "Familial, autosomal recessive" "" "Phe 866 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316871" "00221" "00425696" "00006" "Familial, autosomal recessive" "" "Phe 876 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316872" "00221" "00425697" "00006" "Familial, autosomal recessive" "" "Phe 1477 umol/l in 4-12m child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316873" "00221" "00425698" "00006" "Familial, autosomal recessive" "" "Phe 1980 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316874" "00221" "00425699" "00006" "Familial, autosomal recessive" "" "Phe 2568 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316875" "00221" "00425700" "00006" "Familial, autosomal recessive" "" "Phe 2724 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316876" "00221" "00425701" "00006" "Familial, autosomal recessive" "" "Phe 2760 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316877" "00221" "00425702" "00006" "Familial, autosomal recessive" "" "Phe 1230 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316878" "00221" "00425703" "00006" "Familial, autosomal recessive" "" "Phe 1530 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316879" "00221" "00425704" "00006" "Familial, autosomal recessive" "" "Phe 881 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316880" "00221" "00425705" "00006" "Familial, autosomal recessive" "" "Phe 4631 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316881" "00221" "00425706" "00006" "Familial, autosomal recessive" "" "Phe 3420 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316882" "00221" "00425707" "00006" "Familial, autosomal recessive" "" "Phe 960 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316883" "00221" "00425708" "00006" "Familial, autosomal recessive" "" "Phe 2391 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316884" "00221" "00425709" "00006" "Familial, autosomal recessive" "" "Phe 2334 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316885" "00221" "00425710" "00006" "Familial, autosomal recessive" "" "Phe 1800 umol/l in 1-6y child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316886" "00221" "00425711" "00006" "Familial, autosomal recessive" "" "Phe 2396 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316887" "00221" "00425712" "00006" "Familial, autosomal recessive" "" "Phe 2880 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316888" "00221" "00425713" "00006" "Familial, autosomal recessive" "" "Phe 3000 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316889" "00221" "00425714" "00006" "Familial, autosomal recessive" "" "Phe 3002 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316890" "00221" "00425715" "00006" "Familial, autosomal recessive" "" "Phe 1734 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316891" "00221" "00425716" "00006" "Familial, autosomal recessive" "" "Phe 2076 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316892" "00221" "00425717" "00006" "Familial, autosomal recessive" "" "Phe 914 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316893" "00221" "00425718" "00006" "Familial, autosomal recessive" "" "Phe 938 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316894" "00221" "00425719" "00006" "Familial, autosomal recessive" "" "Phe 1578 umol/l in 9y child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316895" "00221" "00425720" "00006" "Familial, autosomal recessive" "" "Phe 300 umol/l in 4-12m child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316896" "00221" "00425721" "00006" "Familial, autosomal recessive" "" "Phe 2212 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316897" "00221" "00425722" "00006" "Familial, autosomal recessive" "" "Phe 2448 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316898" "00221" "00425723" "00006" "Familial, autosomal recessive" "" "Phe 3652 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316899" "00221" "00425724" "00006" "Familial, autosomal recessive" "" "Phe 900 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316900" "00221" "00425725" "00006" "Familial, autosomal recessive" "" "Phe 690 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316901" "00221" "00425726" "00006" "Familial, autosomal recessive" "" "Phe 1380 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316902" "00221" "00425727" "00006" "Familial, autosomal recessive" "" "Phe 672 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316903" "00221" "00425728" "00006" "Familial, autosomal recessive" "" "Phe 708 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316904" "00221" "00425729" "00006" "Familial, autosomal recessive" "" "Phe 920 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316905" "00221" "00425730" "00006" "Familial, autosomal recessive" "" "Phe 654 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316906" "00221" "00425731" "00006" "Familial, autosomal recessive" "" "Phe 768 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316907" "00221" "00425732" "00006" "Familial, autosomal recessive" "" "Phe 676 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316908" "00221" "00425733" "00006" "Familial, autosomal recessive" "" "Phe 774 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316909" "00221" "00425734" "00006" "Familial, autosomal recessive" "" "Phe 792 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316910" "00221" "00425735" "00006" "Familial, autosomal recessive" "" "Phe 1026 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316911" "00221" "00425736" "00006" "Familial, autosomal recessive" "" "Phe 684 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316912" "00221" "00425737" "00006" "Familial, autosomal recessive" "" "Phe 708 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316913" "00221" "00425738" "00006" "Familial, autosomal recessive" "" "Phe 847 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316914" "00221" "00425739" "00006" "Familial, autosomal recessive" "" "Phe 796 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316915" "00221" "00425740" "00006" "Familial, autosomal recessive" "" "Phe 684 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316916" "00221" "00425741" "00006" "Familial, autosomal recessive" "" "Phe 1112 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316917" "00221" "00425742" "00006" "Familial, autosomal recessive" "" "Phe 1320 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316918" "00221" "00425743" "00006" "Familial, autosomal recessive" "" "Phe 1646 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316919" "00221" "00425744" "00006" "Familial, autosomal recessive" "" "Phe 660 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316920" "00221" "00425745" "00006" "Familial, autosomal recessive" "" "Phe 823 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316921" "00221" "00425746" "00006" "Familial, autosomal recessive" "" "Phe 1776 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316922" "00221" "00425747" "00006" "Familial, autosomal recessive" "" "Phe 1260 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316923" "00221" "00425748" "00006" "Familial, autosomal recessive" "" "Phe 840 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316924" "00221" "00425749" "00006" "Familial, autosomal recessive" "" "Phe 1560 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316925" "00221" "00425750" "00006" "Familial, autosomal recessive" "" "Phe 3252 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316926" "00221" "00425751" "00006" "Familial, autosomal recessive" "" "Phe 1548 umol/l in 9y child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316927" "00221" "00425752" "00006" "Familial, autosomal recessive" "" "Phe 864 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316928" "00221" "00425753" "00006" "Familial, autosomal recessive" "" "Phe 2209 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316929" "00221" "00425754" "00006" "Familial, autosomal recessive" "" "Phe 2300 umol/l in child on mixed diet" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316930" "00221" "00425755" "00006" "Familial, autosomal recessive" "" "Phe 2405 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316931" "00221" "00425756" "00006" "Familial, autosomal recessive" "" "Phe 2389 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316932" "00221" "00425757" "00006" "Familial, autosomal recessive" "" "Phe 1944 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316933" "00221" "00425758" "00006" "Familial, autosomal recessive" "" "Phe 2760 umol/l in brest-fed neonate" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316934" "00221" "00425759" "00006" "Familial, autosomal recessive" "" "Phe 1710 umol/l in 2-3m child" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria (newborn screening)" "" "0000316946" "00221" "00425771" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000316947" "00221" "00425772" "00006" "Familial, autosomal recessive" "" "classical PKU" "" "" "" "" "" "" "" "" "PKU" "classical PKU" "" "0000316948" "00221" "00425773" "00006" "Familial, autosomal recessive" "" "classical PKU" "" "" "" "" "" "" "" "" "PKU" "classical PKU" "" "0000316949" "00221" "00425774" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000316950" "00221" "00425775" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000316951" "00221" "00425776" "00006" "Familial, autosomal recessive" "" "classical PKU" "" "" "" "" "" "" "" "" "PKU" "classical PKU" "" "0000316952" "00221" "00425777" "00006" "Familial, autosomal recessive" "" "classical PKU" "" "" "" "" "" "" "" "" "PKU" "classical PKU" "" "0000316953" "00221" "00425778" "00006" "Familial, autosomal recessive" "" "mild PKU/hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "mild PKU/hyperphenylalaninemia" "" "0000316970" "00221" "00425800" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316971" "00221" "00425801" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316972" "00221" "00425802" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316973" "00221" "00425803" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316974" "00221" "00425804" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316975" "00221" "00425805" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316976" "00221" "00425806" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316977" "00221" "00425807" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316978" "00221" "00425808" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316979" "00221" "00425809" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316980" "00221" "00425810" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316981" "00221" "00425811" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316982" "00221" "00425812" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316983" "00221" "00425813" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316984" "00221" "00425814" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316985" "00221" "00425815" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316986" "00221" "00425816" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316987" "00221" "00425817" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316988" "00221" "00425818" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316989" "00221" "00425819" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316990" "00221" "00425820" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316991" "00221" "00425821" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316992" "00221" "00425822" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316993" "00221" "00425823" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316994" "00221" "00425824" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316995" "00221" "00425825" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316996" "00221" "00425826" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316997" "00221" "00425827" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316998" "00221" "00425828" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000316999" "00221" "00425829" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317000" "00221" "00425830" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317001" "00221" "00425831" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317002" "00221" "00425832" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317003" "00221" "00425833" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317004" "00221" "00425834" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317005" "00221" "00425835" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317006" "00221" "00425836" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317007" "00221" "00425837" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317008" "00221" "00425838" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317009" "00221" "00425839" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317010" "00221" "00425840" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317011" "00221" "00425841" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317012" "00221" "00425842" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317013" "00221" "00425843" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317014" "00221" "00425844" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317015" "00221" "00425845" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317016" "00221" "00425846" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317017" "00221" "00425847" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317018" "00221" "00425848" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317019" "00221" "00425849" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317020" "00221" "00425850" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317021" "00221" "00425851" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317022" "00221" "00425852" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317023" "00221" "00425853" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317024" "00221" "00425854" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317025" "00221" "00425855" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317026" "00221" "00425856" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317027" "00221" "00425857" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317028" "00221" "00425858" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317029" "00221" "00425859" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317030" "00221" "00425860" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317031" "00221" "00425861" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317032" "00221" "00425862" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317033" "00221" "00425863" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317034" "00221" "00425864" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317035" "00221" "00425865" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317036" "00221" "00425866" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317066" "00221" "00425896" "00006" "Familial, autosomal recessive" "3y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317067" "00221" "00425897" "00006" "Familial, autosomal recessive" "22y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317068" "00221" "00425898" "00006" "Familial, autosomal recessive" "2y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317069" "00221" "00425899" "00006" "Familial, autosomal recessive" "22y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317070" "00221" "00425900" "00006" "Familial, autosomal recessive" "1y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317071" "00221" "00425901" "00006" "Familial, autosomal recessive" "25y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317072" "00221" "00425902" "00006" "Familial, autosomal recessive" "6y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317073" "00221" "00425903" "00006" "Familial, autosomal recessive" "4y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317074" "00221" "00425904" "00006" "Familial, autosomal recessive" "3y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317075" "00221" "00425905" "00006" "Familial, autosomal recessive" "2y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317076" "00221" "00425906" "00006" "Familial, autosomal recessive" "13y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317077" "00221" "00425907" "00006" "Familial, autosomal recessive" "3y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317078" "00221" "00425908" "00006" "Familial, autosomal recessive" "6y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317079" "00221" "00425909" "00006" "Familial, autosomal recessive" "12y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317080" "00221" "00425910" "00006" "Familial, autosomal recessive" "2y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317081" "00221" "00425911" "00006" "Familial, autosomal recessive" "3y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317082" "00221" "00425912" "00006" "Familial, autosomal recessive" "12y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317083" "00221" "00425913" "00006" "Familial, autosomal recessive" "19y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317084" "00221" "00425914" "00006" "Familial, autosomal recessive" "22y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317085" "00221" "00425915" "00006" "Familial, autosomal recessive" "17y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317086" "00221" "00425916" "00006" "Familial, autosomal recessive" "23y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317087" "00221" "00425917" "00006" "Familial, autosomal recessive" "27y" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317088" "00221" "00425918" "00006" "Familial, autosomal recessive" "10y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317089" "00221" "00425919" "00006" "Familial, autosomal recessive" "10y" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317090" "00221" "00425920" "00006" "Familial, autosomal recessive" "4y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317091" "00221" "00425921" "00006" "Familial, autosomal recessive" "15y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317092" "00221" "00425922" "00006" "Familial, autosomal recessive" "16y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317093" "00221" "00425923" "00006" "Familial, autosomal recessive" "12y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317094" "00221" "00425924" "00006" "Familial, autosomal recessive" "4y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317095" "00221" "00425925" "00006" "Familial, autosomal recessive" "26y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317096" "00221" "00425926" "00006" "Familial, autosomal recessive" "12y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317097" "00221" "00425927" "00006" "Familial, autosomal recessive" "22y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317098" "00221" "00425928" "00006" "Familial, autosomal recessive" "2y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317099" "00221" "00425929" "00006" "Familial, autosomal recessive" "21y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317100" "00221" "00425930" "00006" "Familial, autosomal recessive" "9y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317101" "00221" "00425931" "00006" "Familial, autosomal recessive" "7y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317102" "00221" "00425932" "00006" "Familial, autosomal recessive" "4y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317103" "00221" "00425933" "00006" "Familial, autosomal recessive" "4y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317104" "00221" "00425934" "00006" "Familial, autosomal recessive" "4y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317105" "00221" "00425935" "00006" "Familial, autosomal recessive" "3y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317106" "00221" "00425936" "00006" "Familial, autosomal recessive" "3y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317107" "00221" "00425937" "00006" "Familial, autosomal recessive" "15y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317108" "00221" "00425938" "00006" "Familial, autosomal recessive" "3y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317109" "00221" "00425939" "00006" "Familial, autosomal recessive" "22y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317110" "00221" "00425940" "00006" "Familial, autosomal recessive" "3y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317111" "00221" "00425941" "00006" "Familial, autosomal recessive" "4y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317112" "00221" "00425942" "00006" "Familial, autosomal recessive" "19y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317113" "00221" "00425943" "00006" "Familial, autosomal recessive" "3y" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317114" "00221" "00425944" "00006" "Familial, autosomal recessive" "3y" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317115" "00221" "00425945" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317116" "00221" "00425946" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317117" "00221" "00425947" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317118" "00221" "00425948" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317119" "00221" "00425949" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317120" "00221" "00425950" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317121" "00221" "00425951" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317122" "00221" "00425952" "00006" "Familial, autosomal recessive" "" "benign hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "benign hyperphenylalaninemia" "" "0000317123" "00221" "00425953" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317124" "00221" "00425954" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317125" "00221" "00425955" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317126" "00221" "00425956" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317127" "00221" "00425957" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317128" "00221" "00425958" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317129" "00221" "00425959" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317130" "00221" "00425960" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317131" "00221" "00425961" "00006" "Familial, autosomal recessive" "" "classic PKU/moderate PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU/moderate PKU" "" "0000317132" "00221" "00425962" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317133" "00221" "00425963" "00006" "Familial, autosomal recessive" "" "benign hyperphenylalaninemia/mild PKU" "" "" "" "" "" "" "" "" "PKU" "benign hyperphenylalaninemia/mild PKU" "" "0000317134" "00221" "00425964" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317135" "00221" "00425965" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317136" "00221" "00425966" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317137" "00221" "00425967" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317138" "00221" "00425968" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317139" "00221" "00425969" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317140" "00221" "00425970" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317141" "00221" "00425971" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317142" "00221" "00425972" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317143" "00221" "00425973" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317144" "00221" "00425974" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317145" "00221" "00425975" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317146" "00221" "00425976" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317147" "00221" "00425977" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317148" "00221" "00425978" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317149" "00221" "00425979" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317150" "00221" "00425980" "00006" "Familial, autosomal recessive" "" "hyperphenylalaninemia" "" "" "" "" "" "" "" "" "PKU" "hyperphenylalaninemia" "" "0000317151" "00221" "00425981" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317152" "00221" "00425982" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317153" "00221" "00425983" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317154" "00221" "00425984" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317155" "00221" "00425985" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317156" "00221" "00425986" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317157" "00221" "00425987" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317158" "00221" "00425988" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317159" "00221" "00425989" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317160" "00221" "00425990" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317161" "00221" "00425991" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317162" "00221" "00425992" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317163" "00221" "00425993" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317164" "00221" "00425994" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317165" "00221" "00425995" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317166" "00221" "00425996" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317167" "00221" "00425997" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317168" "00221" "00425998" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317169" "00221" "00425999" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317170" "00221" "00426000" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317171" "00221" "00426001" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317172" "00221" "00426002" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317173" "00221" "00426003" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317174" "00221" "00426004" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317175" "00221" "00426005" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317176" "00221" "00426006" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317177" "00221" "00426007" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317178" "00221" "00426008" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317179" "00221" "00426009" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317180" "00221" "00426010" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317181" "00221" "00426011" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317182" "00221" "00426012" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317183" "00221" "00426013" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317184" "00221" "00426014" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317185" "00221" "00426015" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317186" "00221" "00426016" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317187" "00221" "00426017" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317188" "00221" "00426018" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317189" "00221" "00426019" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317190" "00221" "00426020" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317191" "00221" "00426021" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317192" "00221" "00426022" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317193" "00221" "00426023" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317194" "00221" "00426024" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317195" "00221" "00426025" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317196" "00221" "00426026" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317197" "00221" "00426027" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317198" "00221" "00426028" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317199" "00221" "00426029" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317200" "00221" "00426030" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317201" "00221" "00426031" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317202" "00221" "00426032" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317203" "00221" "00426033" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317204" "00221" "00426034" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317205" "00221" "00426035" "00006" "Familial, autosomal recessive" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317356" "00221" "00426203" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317357" "00221" "00426204" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317358" "00221" "00426205" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317359" "00221" "00426206" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317360" "00221" "00426207" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317361" "00221" "00426208" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317362" "00221" "00426209" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317363" "00221" "00426210" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317364" "00221" "00426211" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317365" "00221" "00426212" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317366" "00221" "00426213" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317367" "00221" "00426214" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317368" "00221" "00426215" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317369" "00221" "00426216" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317370" "00221" "00426217" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317371" "00221" "00426218" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317372" "00221" "00426219" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317373" "00221" "00426220" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317374" "00221" "00426221" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317375" "00221" "00426222" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317376" "00221" "00426223" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317377" "00221" "00426224" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317378" "00221" "00426225" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317379" "00221" "00426226" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317380" "00221" "00426227" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317381" "00221" "00426228" "00006" "Familial, autosomal recessive" "" "hyperphenylalannemia" "" "" "" "" "" "" "" "" "PKU" "hyperphenylalannemia" "" "0000317382" "00221" "00426229" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317383" "00221" "00426230" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317384" "00221" "00426231" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317385" "00221" "00426232" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317386" "00221" "00426233" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317387" "00221" "00426234" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317388" "00221" "00426235" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317389" "00221" "00426236" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317390" "00221" "00426237" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317391" "00221" "00426238" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317392" "00221" "00426239" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317393" "00221" "00426240" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317394" "00221" "00426241" "00006" "Familial, autosomal recessive" "" "hyperphenylalannemia" "" "" "" "" "" "" "" "" "PKU" "hyperphenylalannemia" "" "0000317395" "00221" "00426242" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317396" "00221" "00426243" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317397" "00221" "00426244" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317398" "00221" "00426245" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317399" "00221" "00426246" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317400" "00221" "00426247" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317401" "00221" "00426248" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317402" "00221" "00426249" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317403" "00221" "00426250" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317404" "00221" "00426251" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317405" "00221" "00426252" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317406" "00221" "00426253" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317407" "00221" "00426254" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317408" "00221" "00426255" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317409" "00221" "00426256" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317410" "00221" "00426257" "00006" "Familial, autosomal recessive" "" "hyperphenylalannemia" "" "" "" "" "" "" "" "" "PKU" "hyperphenylalannemia" "" "0000317411" "00221" "00426258" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317412" "00221" "00426259" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317413" "00221" "00426260" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317414" "00221" "00426261" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317415" "00221" "00426262" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317416" "00221" "00426263" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317417" "00221" "00426264" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317418" "00221" "00426265" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317419" "00221" "00426266" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317420" "00221" "00426267" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317421" "00221" "00426268" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317422" "00221" "00426269" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317423" "00221" "00426270" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317424" "00221" "00426271" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317425" "00221" "00426272" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317426" "00221" "00426273" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317427" "00221" "00426274" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317428" "00221" "00426275" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317429" "00221" "00426276" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317430" "00221" "00426277" "00006" "Familial, autosomal recessive" "" "phenylketonuria" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000317431" "00221" "00426278" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317432" "00221" "00426279" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317433" "00221" "00426280" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317434" "00221" "00426281" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317435" "00221" "00426282" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317436" "00221" "00426283" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317437" "00221" "00426284" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317438" "00221" "00426285" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317439" "00221" "00426286" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317440" "00221" "00426287" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317441" "00221" "00426288" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317442" "00221" "00426289" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317443" "00221" "00426290" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317444" "00221" "00426291" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317445" "00221" "00426292" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317446" "00221" "00426293" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317447" "00221" "00426294" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317448" "00221" "00426295" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317449" "00221" "00426296" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317450" "00221" "00426297" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317451" "00221" "00426298" "00006" "Familial, autosomal recessive" "" "mild PKU" "" "" "" "" "" "" "" "" "PKU" "mild PKU" "" "0000317452" "00221" "00426299" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317453" "00221" "00426300" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317454" "00221" "00426301" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317455" "00221" "00426302" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317456" "00221" "00426303" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317457" "00221" "00426304" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317458" "00221" "00426305" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317459" "00221" "00426306" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317460" "00221" "00426307" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317461" "00221" "00426308" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317462" "00221" "00426309" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317463" "00221" "00426310" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317464" "00221" "00426311" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317465" "00221" "00426312" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317466" "00221" "00426313" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317467" "00221" "00426314" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317468" "00221" "00426315" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317469" "00221" "00426316" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317470" "00221" "00426317" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317471" "00221" "00426318" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317472" "00221" "00426319" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317473" "00221" "00426320" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317474" "00221" "00426321" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317475" "00221" "00426322" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317476" "00221" "00426323" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317477" "00221" "00426324" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317478" "00221" "00426325" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317479" "00221" "00426326" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317480" "00221" "00426327" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317481" "00221" "00426328" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317482" "00221" "00426329" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317483" "00221" "00426330" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317484" "00221" "00426331" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317485" "00221" "00426332" "00006" "Familial, autosomal recessive" "" "moderate PKU" "" "" "" "" "" "" "" "" "PKU" "moderate PKU" "" "0000317486" "00221" "00426333" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317487" "00221" "00426334" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317488" "00221" "00426335" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317489" "00221" "00426336" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317490" "00221" "00426337" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317491" "00221" "00426338" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317492" "00221" "00426339" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000317493" "00221" "00426340" "00006" "Familial, autosomal recessive" "" "classic PKU" "" "" "" "" "" "" "" "" "PKU" "classic PKU" "" "0000318183" "00221" "00427166" "00006" "Familial, autosomal recessive" "" "see paper; mild PKU" "" "" "" "" "" "" "" "" "PKU" "newborn screening" "" "0000340726" "00198" "00452123" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340727" "00198" "00452124" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340728" "00198" "00452125" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340729" "00198" "00452126" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340730" "00198" "00452127" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340731" "00198" "00452128" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340732" "00198" "00452129" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340733" "00198" "00452130" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340734" "00198" "00452131" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340735" "00198" "00452132" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340736" "00198" "00452133" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340737" "00198" "00452134" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340738" "00198" "00452135" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340739" "00198" "00452136" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340740" "00198" "00452137" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340741" "00198" "00452138" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340742" "00198" "00452139" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000340743" "00198" "00452140" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340744" "00198" "00452141" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340745" "00198" "00452142" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340746" "00198" "00452143" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340747" "00198" "00452144" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340748" "00198" "00452145" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340749" "00198" "00452146" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340750" "00198" "00452147" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340751" "00198" "00452148" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340752" "00198" "00452149" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340753" "00198" "00452150" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340754" "00198" "00452151" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340755" "00198" "00452152" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340756" "00198" "00452153" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340757" "00198" "00452154" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340758" "00198" "00452155" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340759" "00198" "00452156" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340760" "00198" "00452157" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000340761" "00198" "00452158" "00006" "Unknown" "" "" "" "" "" "" "" "" "" "" "PKU" "mild hyperphenylalaninemia" "" "0000342297" "02554" "00453640" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-10y" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342298" "02554" "00453641" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-10y" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342299" "02554" "00453642" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-10y" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342300" "02554" "00453643" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342301" "02554" "00453644" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342302" "02554" "00453645" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "01y-03y" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342303" "02554" "00453646" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "05y-08y" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342304" "02554" "00453647" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342305" "02554" "00453648" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342306" "02554" "00453649" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342307" "02554" "00453650" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342308" "02554" "00453651" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342309" "02554" "00453652" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342310" "02554" "00453653" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342311" "02554" "00453654" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342312" "02554" "00453655" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342313" "02554" "00453656" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342314" "02554" "00453657" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342315" "02554" "00453658" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342316" "02554" "00453659" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342317" "02554" "00453660" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342318" "02554" "00453661" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342319" "02554" "00453662" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342320" "02554" "00453663" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342321" "02554" "00453664" "00006" "Familial, autosomal recessive" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "PKU" "inborn error of metabolism" "" "0000342361" "02554" "00453704" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342362" "02554" "00453705" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342363" "02554" "00453706" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000342364" "02554" "00453707" "00006" "Unknown" "" "see paper; ..., newborn screening tandem mass spectrometry dried blood spots" "" "" "" "" "" "" "" "" "" "inborn error of metabolism" "" "0000346129" "00198" "00457670" "00006" "Unknown" "" "see paper;..., abnormality of metabolism/ homeostasis; tremor; abnormality of bone mineral density" "" "" "" "" "" "" "" "" "" "metabolic disorder" "" "0000352861" "00221" "00467696" "00006" "Familial, autosomal recessive" "16y" "see paper; ..." "" "" "" "" "" "" "" "" "PKU" "phenylketonuria" "" "0000352862" "00139" "00467696" "00006" "Familial, autosomal recessive" "16y" "see paper; ..." "" "" "" "" "" "" "" "" "ALAZS" "intellectual disability" "" ## Screenings ## Do not remove or alter this header ## ## Count = 2680 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000000007" "00000007" "1" "00004" "" "2012-05-11 13:18:37" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000010" "00000010" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000013" "00000013" "1" "00004" "" "2012-05-11 13:18:38" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000022" "00000022" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000025" "00000025" "1" "00004" "" "2012-05-11 13:18:41" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000071" "00000071" "1" "00004" "" "2012-05-11 13:18:58" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000000097" "00000097" "1" "00004" "" "2012-05-11 13:19:28" "00006" "2019-02-14 10:06:48" "SEQ-NG" "DNA" "" "" "0000002944" "00003036" "1" "00006" "00006" "2013-10-07 22:38:59" "" "" "PCR;SEQ" "DNA" "" "" "0000025491" "00025488" "1" "01168" "01168" "2014-12-12 14:20:00" "" "" "SEQ" "DNA" "Blood" "" "0000181996" "00181048" "1" "02568" "02568" "2018-09-21 13:02:55" "" "" "SEQ-NG-I" "DNA" "" "" "0000181997" "00181050" "1" "02568" "02568" "2018-09-21 13:10:10" "" "" "SEQ-NG-I" "DNA" "" "" "0000182020" "00181072" "1" "02568" "02568" "2018-09-21 16:03:43" "" "" "SEQ-NG-I" "DNA" "" "" "0000268163" "00267035" "1" "03461" "03461" "2019-10-30 18:08:41" "" "" "SEQ" "DNA" "" "" "0000291740" "00290572" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291741" "00290573" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291742" "00290574" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291743" "00290575" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291744" "00290576" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291745" "00290577" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291746" "00290578" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291747" "00290579" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291748" "00290580" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291749" "00290581" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291750" "00290582" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291751" "00290583" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291752" "00290584" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000291753" "00290585" "1" "03575" "00006" "2020-03-11 19:30:02" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000305456" "00304327" "1" "03575" "00006" "2020-06-24 11:55:42" "" "" "arraySNP" "DNA" "" "Infinium Global Screening Array v1.0" "0000308899" "00307759" "1" "00006" "00006" "2020-08-18 13:19:45" "" "" "SEQ;SEQ-NG" "DNA" "" "565 gene panel" "0000310990" "00309846" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310991" "00309847" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310992" "00309848" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310993" "00309849" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310995" "00309851" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310998" "00309854" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000310999" "00309855" "1" "00006" "00006" "2020-09-04 15:25:36" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000328762" "00327547" "1" "00006" "00006" "2021-01-23 14:41:55" "" "" "SEQ-NG" "DNA" "" "WES" "0000397192" "00395953" "1" "00006" "00006" "2021-12-09 13:38:06" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000402541" "00401297" "1" "02494" "02494" "2022-01-31 10:19:49" "" "" "SEQ-NG" "DNA" "" "WES" "0000402911" "00401668" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402912" "00401669" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402913" "00401670" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402914" "00401671" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402915" "00401672" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402916" "00401673" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402917" "00401674" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402918" "00401675" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000402919" "00401676" "1" "00006" "00006" "2022-02-02 08:44:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WGS" "0000407220" "00405979" "1" "04289" "04289" "2022-03-24 18:46:30" "" "" "SEQ" "DNA" "dried blood spot" "" "0000407221" "00405980" "1" "04289" "04289" "2022-03-24 19:14:04" "" "" "SEQ" "DNA" "dried blood spot" "" "0000407222" "00405981" "1" "04289" "04289" "2022-03-24 19:22:58" "" "" "SEQ" "DNA" "dried blood spot" "" "0000407325" "00406084" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407326" "00406085" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407327" "00406086" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407328" "00406087" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407329" "00406088" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407330" "00406089" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407331" "00406090" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407332" "00406091" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407333" "00406092" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407334" "00406093" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407335" "00406094" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407336" "00406095" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407337" "00406096" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407338" "00406097" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407339" "00406098" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407340" "00406099" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407341" "00406100" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407342" "00406101" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407343" "00406102" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407344" "00406103" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407345" "00406104" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407346" "00406105" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407347" "00406106" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407348" "00406107" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407349" "00406108" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407350" "00406109" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407351" "00406110" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407352" "00406111" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407353" "00406112" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407354" "00406113" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407355" "00406114" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407356" "00406115" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407357" "00406116" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407358" "00406117" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407359" "00406118" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407360" "00406119" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407361" "00406120" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407362" "00406121" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407363" "00406122" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407364" "00406123" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407365" "00406124" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407366" "00406125" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407367" "00406126" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407368" "00406127" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407369" "00406128" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407370" "00406129" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407371" "00406130" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407372" "00406131" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407373" "00406132" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407374" "00406133" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407375" "00406134" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407376" "00406135" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407377" "00406136" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407378" "00406137" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407379" "00406138" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407380" "00406139" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407381" "00406140" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407382" "00406141" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407383" "00406142" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407384" "00406143" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407385" "00406144" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407386" "00406145" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407387" "00406146" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407388" "00406147" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407389" "00406148" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407390" "00406149" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407391" "00406150" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407392" "00406151" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407393" "00406152" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407394" "00406153" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407395" "00406154" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407396" "00406155" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407397" "00406156" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407398" "00406157" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407399" "00406158" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407400" "00406159" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407401" "00406160" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407402" "00406161" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407403" "00406162" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407404" "00406163" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407405" "00406164" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407406" "00406165" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407407" "00406166" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407408" "00406167" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407409" "00406168" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407410" "00406169" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407411" "00406170" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407412" "00406171" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407413" "00406172" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407414" "00406173" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407415" "00406174" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407416" "00406175" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407417" "00406176" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407418" "00406177" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407419" "00406178" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407420" "00406179" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407421" "00406180" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407422" "00406181" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407423" "00406182" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407424" "00406183" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407425" "00406184" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407426" "00406185" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407427" "00406186" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407428" "00406187" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407429" "00406188" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407430" "00406189" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407431" "00406190" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407432" "00406191" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407433" "00406192" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407434" "00406193" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407435" "00406194" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407436" "00406195" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407437" "00406196" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407438" "00406197" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407439" "00406198" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407440" "00406199" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407441" "00406200" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407442" "00406201" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407443" "00406202" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407444" "00406203" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000407445" "00406204" "1" "04289" "00006" "2022-03-25 15:25:12" "" "" "SEQ" "DNA" "" "" "0000420957" "00419653" "1" "02300" "00006" "2022-10-20 16:24:48" "" "" "SEQ;SEQ-NG" "DNA" "" "WES" "0000421282" "00419977" "1" "04409" "04409" "2022-10-30 04:34:57" "" "" "SEQ-NG" "DNA" "blood" "" "0000421283" "00419978" "1" "04409" "04409" "2022-10-30 04:41:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000421284" "00419979" "1" "04409" "04409" "2022-10-30 04:44:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000421285" "00419980" "1" "04409" "04409" "2022-10-30 04:48:19" "" "" "SEQ-NG" "DNA" "blood" "" "0000421286" "00419981" "1" "04409" "04409" "2022-10-30 04:50:31" "" "" "SEQ-NG" "DNA" "blood" "" "0000421287" "00419982" "1" "04409" "04409" "2022-10-30 04:52:44" "" "" "SEQ-NG" "DNA" "blood" "" "0000421288" "00419983" "1" "04409" "04409" "2022-10-30 04:55:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000421289" "00419984" "1" "04409" "04409" "2022-10-30 05:09:42" "" "" "SEQ-NG" "DNA" "blood" "" "0000421290" "00419985" "1" "04409" "04409" "2022-10-30 05:11:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000421291" "00419986" "1" "04409" "04409" "2022-10-30 05:11:44" "" "" "SEQ-NG" "DNA" "blood" "" "0000421292" "00419987" "1" "04409" "04409" "2022-10-30 05:11:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000421293" "00419988" "1" "04409" "04409" "2022-10-30 05:11:47" "" "" "SEQ-NG" "DNA" "blood" "" "0000421294" "00419989" "1" "04409" "04409" "2022-10-30 05:11:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000421295" "00419990" "1" "04409" "04409" "2022-10-30 05:12:49" "" "" "SEQ-NG" "DNA" "blood" "" "0000421296" "00419991" "1" "04409" "04409" "2022-10-30 05:12:50" "" "" "SEQ-NG" "DNA" "blood" "" "0000421298" "00419992" "1" "04409" "04409" "2022-10-30 05:14:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000421299" "00419993" "1" "04409" "04409" "2022-10-30 05:14:38" "" "" "SEQ-NG" "DNA" "blood" "" "0000421300" "00419994" "1" "04409" "04409" "2022-10-30 05:15:15" "" "" "SEQ-NG" "DNA" "blood" "" "0000421301" "00419995" "1" "04409" "04409" "2022-10-30 05:15:44" "00006" "2022-11-01 17:49:27" "SEQ-NG" "DNA" "blood" "" "0000421302" "00419996" "1" "04409" "04409" "2022-10-30 05:15:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000421306" "00420000" "1" "04409" "04409" "2022-10-30 14:16:47" "" "" "SEQ-NG" "DNA" "blood" "" "0000421307" "00420001" "1" "04409" "04409" "2022-10-30 14:17:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000421308" "00420002" "1" "04409" "04409" "2022-10-30 14:20:16" "" "" "SEQ-NG" "DNA" "blood" "" "0000421309" "00420003" "1" "04409" "04409" "2022-10-30 14:24:37" "" "" "SEQ-NG" "DNA" "blood" "" "0000421310" "00420004" "1" "04409" "04409" "2022-10-30 14:28:00" "" "" "SEQ-NG" "DNA" "blood" "" "0000421311" "00420005" "1" "04409" "04409" "2022-10-30 14:30:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000421312" "00420006" "1" "04409" "04409" "2022-10-30 14:32:48" "" "" "SEQ-NG" "DNA" "blood" "" "0000421314" "00420008" "1" "04409" "04409" "2022-10-30 14:37:13" "" "" "SEQ-NG" "DNA" "blood" "" "0000421315" "00420007" "1" "04409" "04409" "2022-10-30 14:38:59" "" "" "SEQ-NG" "DNA" "blood" "" "0000421316" "00420009" "1" "04409" "04409" "2022-10-30 14:44:26" "" "" "SEQ-NG" "DNA" "blood" "" "0000421317" "00420010" "1" "04409" "04409" "2022-10-30 14:50:01" "" "" "SEQ-NG" "DNA" "blood" "" "0000421318" "00420011" "1" "04409" "04409" "2022-10-30 14:50:50" "" "" "SEQ-NG" "DNA" "blood" "" "0000421319" "00420012" "1" "04409" "04409" "2022-10-30 14:54:41" "" "" "SEQ-NG" "DNA" "blood" "" "0000421320" "00420013" "1" "04409" "04409" "2022-10-30 14:56:36" "" "" "SEQ-NG" "DNA" "blood" "" "0000421321" "00420014" "1" "04409" "04409" "2022-10-30 15:00:04" "" "" "PCR" "DNA" "blood" "" "0000421322" "00420015" "1" "04409" "04409" "2022-10-30 15:02:23" "" "" "PCR" "DNA" "blood" "" "0000421323" "00420016" "1" "04409" "04409" "2022-10-30 15:04:12" "" "" "PCR" "DNA" "blood" "" "0000421324" "00420017" "1" "04409" "04409" "2022-10-30 15:06:33" "" "" "SEQ-NG" "DNA" "blood" "" "0000421325" "00420018" "1" "04409" "04409" "2022-10-30 15:07:55" "" "" "PCR" "DNA" "" "" "0000421326" "00420019" "1" "04409" "04409" "2022-10-30 15:10:26" "" "" "PCR" "DNA" "blood" "" "0000421327" "00420020" "1" "04409" "04409" "2022-10-30 15:14:01" "" "" "PCR" "DNA" "blood" "" "0000421328" "00420021" "1" "04409" "04409" "2022-10-30 15:17:05" "" "" "PCR" "DNA" "blood" "" "0000421329" "00420022" "1" "04409" "04409" "2022-10-30 15:20:14" "" "" "PCR" "DNA" "blood" "" "0000421330" "00420023" "1" "04409" "04409" "2022-10-30 15:23:10" "" "" "SEQ-NG" "DNA" "blood" "" "0000421331" "00420024" "1" "04409" "04409" "2022-10-30 15:25:43" "" "" "SEQ-NG" "DNA" "blood" "" "0000421332" "00420025" "1" "04409" "04409" "2022-10-30 15:28:17" "" "" "PCR" "DNA" "blood" "" "0000421333" "00420026" "1" "04409" "04409" "2022-10-30 15:31:30" "" "" "SEQ-NG" "DNA" "blood" "" "0000421334" "00420027" "1" "04409" "04409" "2022-10-30 15:33:34" "" "" "PCR" "DNA" "blood" "" "0000421335" "00420028" "1" "04409" "04409" "2022-10-30 15:35:50" "" "" "PCR" "DNA" "blood" "" "0000421336" "00420029" "1" "04409" "04409" "2022-10-30 15:37:46" "" "" "SEQ-NG" "DNA" "blood" "" "0000421339" "00420031" "1" "04409" "04409" "2022-10-30 15:45:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000421340" "00420032" "1" "04409" "04409" "2022-10-30 15:47:51" "" "" "PCR" "DNA" "blood" "" "0000421341" "00420033" "1" "04409" "04409" "2022-10-30 15:52:44" "" "" "PCR" "DNA" "blood" "" "0000421345" "00420035" "1" "04409" "04409" "2022-10-30 16:07:23" "" "" "SEQ-NG" "DNA" "blood" "" "0000421346" "00420036" "1" "04409" "04409" "2022-10-30 16:10:14" "" "" "PCR" "DNA" "blood" "" "0000421348" "00420038" "1" "04409" "04409" "2022-10-30 16:17:34" "" "" "PCR" "DNA" "blood" "" "0000421349" "00420039" "1" "04409" "04409" "2022-10-30 16:18:35" "" "" "PCR" "DNA" "blood" "" "0000421357" "00420049" "1" "04409" "04409" "2022-10-31 07:13:47" "" "" "PCR" "DNA" "blood" "" "0000421358" "00420050" "1" "04409" "04409" "2022-10-31 07:17:29" "" "" "SEQ-NG" "DNA" "blood" "" "0000421359" "00420051" "1" "04409" "04409" "2022-10-31 07:20:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000421614" "00420052" "1" "04409" "04409" "2022-11-01 01:12:32" "" "" "SEQ-NG" "DNA" "blood" "" "0000421615" "00420053" "1" "04409" "04409" "2022-11-01 01:43:22" "" "" "PCR" "DNA" "blood" "" "0000421616" "00420054" "1" "04409" "04409" "2022-11-01 01:46:57" "" "" "PCR" "DNA" "blood" "" "0000421617" "00420055" "1" "04409" "04409" "2022-11-01 01:51:27" "" "" "SEQ-NG" "DNA" "blood" "" "0000421618" "00420056" "1" "04409" "04409" "2022-11-01 01:54:04" "" "" "PCR" "DNA" "blood" "" "0000421619" "00420057" "1" "04409" "04409" "2022-11-01 01:56:44" "" "" "SEQ-NG" "DNA" "blood" "" "0000421620" "00420058" "1" "04409" "04409" "2022-11-01 02:04:10" "" "" "PCR" "DNA" "blood" "" "0000421621" "00420059" "1" "04409" "04409" "2022-11-01 02:10:21" "" "" "SEQ-NG" "DNA" "blood" "" "0000421622" "00420060" "1" "04409" "04409" "2022-11-01 02:15:07" "" "" "SEQ-NG" "DNA" "blood" "" "0000421623" "00420061" "1" "04409" "04409" "2022-11-01 02:18:11" "" "" "PCR" "DNA" "blood" "" "0000421624" "00420062" "1" "04409" "04409" "2022-11-01 02:21:37" "" "" "PCR" "DNA" "blood" "" "0000421625" "00420064" "1" "04409" "04409" "2022-11-01 02:29:28" "" "" "SEQ-NG" "DNA" "blood" "" "0000421626" "00420063" "1" "04409" "04409" "2022-11-01 02:29:30" "" "" "PCR" "DNA" "blood" "" "0000421627" "00420065" "1" "04409" "04409" "2022-11-01 02:30:20" "" "" "SEQ-NG" "DNA" "blood" "" "0000421628" "00420066" "1" "04409" "04409" "2022-11-01 02:30:44" "" "" "PCR" "DNA" "blood" "" "0000421629" "00420067" "1" "04409" "04409" "2022-11-01 02:54:05" "" "" "PCR" "DNA" "blood" "" "0000421630" "00420068" "1" "04409" "04409" "2022-11-01 02:54:40" "" "" "PCR" "DNA" "blood" "" "0000421631" "00420068" "1" "04409" "04409" "2022-11-01 02:59:14" "" "" "PCR" "DNA" "blood" "" "0000421632" "00420069" "1" "04409" "04409" "2022-11-01 03:08:26" "" "" "PCR" "DNA" "blood" "" "0000421633" "00420070" "1" "04409" "04409" "2022-11-01 03:12:32" "" "" "PCR" "DNA" "blood" "" "0000421634" "00420071" "1" "04409" "04409" "2022-11-01 03:19:18" "" "" "SEQ-NG" "DNA" "blood" "" "0000421635" "00420072" "1" "04409" "04409" "2022-11-01 03:25:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000421636" "00420073" "1" "04409" "04409" "2022-11-01 03:27:34" "" "" "PCR" "DNA" "blood" "" "0000421637" "00420074" "1" "04409" "04409" "2022-11-01 03:37:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000421638" "00420075" "1" "04409" "04409" "2022-11-01 03:39:23" "" "" "PCR" "DNA" "blood" "" "0000421639" "00420076" "1" "04409" "04409" "2022-11-01 08:32:30" "" "" "PCR" "DNA" "blood" "" "0000421640" "00420077" "1" "04409" "04409" "2022-11-01 08:35:34" "" "" "SEQ-NG" "DNA" "blood" "" "0000421641" "00420078" "1" "04409" "04409" "2022-11-01 08:38:48" "" "" "SEQ-NG" "DNA" "blood" "" "0000421642" "00420079" "1" "04409" "04409" "2022-11-01 08:47:47" "" "" "SEQ-NG" "DNA" "blood" "" "0000421643" "00420080" "1" "04409" "04409" "2022-11-01 08:51:21" "" "" "PCR" "DNA" "blood" "" "0000421644" "00420081" "1" "04409" "04409" "2022-11-01 08:54:13" "" "" "PCR" "DNA" "blood" "" "0000421645" "00420082" "1" "04409" "04409" "2022-11-01 09:02:01" "" "" "PCR" "DNA" "blood" "" "0000421646" "00420083" "1" "04409" "04409" "2022-11-01 09:07:06" "" "" "SEQ-NG" "DNA" "blood" "" "0000421647" "00420084" "1" "04409" "04409" "2022-11-01 09:07:33" "" "" "PCR" "DNA" "blood" "" "0000422148" "00420837" "1" "00006" "00006" "2022-11-02 20:05:21" "" "" "RT-PCR;SEQ" "DNA;RNA" "" "" "0000422150" "00420839" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422151" "00420840" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422152" "00420841" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422153" "00420842" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422154" "00420843" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422155" "00420844" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422156" "00420845" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422157" "00420846" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422158" "00420847" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422159" "00420848" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422160" "00420849" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422161" "00420850" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422162" "00420851" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422163" "00420852" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422164" "00420853" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422165" "00420854" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422166" "00420855" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422167" "00420856" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422168" "00420857" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422169" "00420858" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422170" "00420859" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422171" "00420860" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422172" "00420861" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422173" "00420862" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422174" "00420863" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422175" "00420864" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422176" "00420865" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422177" "00420866" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422178" "00420867" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422179" "00420868" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422180" "00420869" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422181" "00420870" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422182" "00420871" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422183" "00420872" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422184" "00420873" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422185" "00420874" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422186" "00420875" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422187" "00420876" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422188" "00420877" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422189" "00420878" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422190" "00420879" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422191" "00420880" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422192" "00420881" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422193" "00420882" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422194" "00420883" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422195" "00420884" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422196" "00420885" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422197" "00420886" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422198" "00420887" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422199" "00420888" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422200" "00420889" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422201" "00420890" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422202" "00420891" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422203" "00420892" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422204" "00420893" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422205" "00420894" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422206" "00420895" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422207" "00420896" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422208" "00420897" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422209" "00420898" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422210" "00420899" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" "0000422211" "00420900" "1" "00006" "00006" "2022-11-03 10:05:26" "" "" "SEQ" "DNA" "" "" 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"" "" "0000422316" "00421005" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422317" "00421006" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422318" "00421007" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422319" "00421008" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422320" "00421009" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422321" "00421010" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422322" "00421011" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "MLPA;PCR;RT-PCR;SEQ" "DNA" "" "" "0000422323" "00421012" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422324" "00421013" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422325" "00421014" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" "DNA" "" "" "0000422326" "00421015" "1" "00006" "00006" "2022-11-03 14:41:30" "" "" "SEQ" 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"00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422359" "00421048" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422360" "00421049" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422361" "00421050" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422362" "00421051" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000422363" "00421052" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "MLPA;SEQ" "DNA" "" "" "0000422364" "00421053" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422365" "00421054" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000422366" "00421055" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422367" "00421056" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "SEQ" "DNA" "" "" "0000422368" "00421057" "1" "00006" "00006" "2022-11-03 17:12:20" "" "" "MLPA;SEQ" "DNA" "" "" 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"0000422557" "00421246" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422558" "00421247" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422559" "00421248" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422560" "00421249" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422561" "00421250" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422562" "00421251" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422563" "00421252" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422564" "00421253" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422565" "00421254" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422566" "00421255" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422567" "00421256" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422568" "00421257" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422569" "00421258" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422570" "00421259" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422571" "00421260" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422572" "00421261" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422573" "00421262" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422574" "00421263" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422575" "00421264" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422576" "00421265" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422577" "00421266" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422578" "00421267" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422579" "00421268" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422580" "00421269" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422581" "00421270" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422582" "00421271" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422583" "00421272" "1" "00006" "00006" "2022-11-04 10:19:08" "00006" "2022-11-04 10:21:20" "MLPA;PCR;SEQ" "DNA" "" "" "0000422584" "00421273" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422585" "00421274" "1" "00006" "00006" "2022-11-04 10:19:08" "" "" "SEQ" "DNA" "" "" "0000422586" "00421275" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422587" "00421276" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422588" "00421277" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422589" "00421278" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422590" "00421279" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422591" "00421280" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422592" "00421281" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422593" "00421282" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422594" "00421283" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422595" "00421284" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422596" "00421285" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422597" "00421286" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422598" "00421287" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422599" "00421288" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422600" "00421289" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422601" "00421290" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422602" "00421291" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422603" "00421292" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422604" "00421293" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422605" "00421294" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422606" "00421295" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422607" "00421296" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422608" "00421297" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422609" "00421298" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422610" "00421299" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422611" "00421300" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422612" "00421301" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422613" "00421302" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422614" "00421303" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422615" "00421304" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422616" "00421305" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422617" "00421306" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422618" "00421307" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422619" "00421308" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422620" "00421309" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422621" "00421310" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422622" "00421311" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422623" "00421312" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422624" "00421313" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422625" "00421314" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422626" "00421315" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422627" "00421316" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422628" "00421317" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422629" "00421318" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422630" "00421319" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422631" "00421320" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422632" "00421321" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422633" "00421322" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422634" "00421323" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422635" "00421324" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422636" "00421325" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422637" "00421326" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422638" "00421327" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422639" "00421328" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422640" "00421329" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422641" "00421330" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422642" "00421331" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422643" "00421332" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422644" "00421333" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422645" "00421334" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422646" "00421335" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422647" "00421336" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422648" "00421337" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422649" "00421338" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422650" "00421339" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422651" "00421340" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422652" "00421341" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422653" "00421342" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422654" "00421343" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422655" "00421344" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422656" "00421345" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422657" "00421346" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422658" "00421347" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422659" "00421348" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422660" "00421349" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422661" "00421350" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422662" "00421351" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422663" "00421352" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;MLPA;SEQ" "DNA" "" "" "0000422664" "00421353" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422665" "00421354" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422666" "00421355" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;MLPA;SEQ" "DNA" "" "" "0000422667" "00421356" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422668" "00421357" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422669" "00421358" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422670" "00421359" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422671" "00421360" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422672" "00421361" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422673" "00421362" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422674" "00421363" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422675" "00421364" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422676" "00421365" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422677" "00421366" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422678" "00421367" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422679" "00421368" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422680" "00421369" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422681" "00421370" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422682" "00421371" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422683" "00421372" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;MLPA;SEQ" "DNA" "" "" "0000422684" "00421373" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422685" "00421374" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422686" "00421375" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422687" "00421376" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;MLPA;SEQ" "DNA" "" "" "0000422688" "00421377" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;MLPA;SEQ" "DNA" "" "" "0000422689" "00421378" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422690" "00421379" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422691" "00421380" "1" "00006" "00006" "2022-11-04 12:05:31" "" "" "DHPLC;SEQ" "DNA" "" "" "0000422723" "00421412" "1" "00006" "00006" "2022-11-06 09:58:07" "" "" "DGGE;MLPA;PCR;SEQ" "DNA" "" "" "0000422724" "00421413" "1" "00006" "00006" "2022-11-06 10:03:59" "" "" "DGGE;MLPA;PCR;SEQ" "DNA" "" "" "0000422725" "00421414" "1" "00006" "00006" "2022-11-06 10:08:15" "" "" "DGGE;MLPA;PCR;SEQ" "DNA" "" "" "0000422726" "00421415" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422727" "00421416" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422728" "00421417" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422729" "00421418" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422730" "00421419" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422731" "00421420" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422732" "00421421" "1" "00006" 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"" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422764" "00421453" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422765" "00421454" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422766" "00421455" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422767" "00421456" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422768" "00421457" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422769" "00421458" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422770" "00421459" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422771" "00421460" "1" "00006" "00006" 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"" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422803" "00421492" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422804" "00421493" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422805" "00421494" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422806" "00421495" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422807" "00421496" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422808" "00421497" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422809" "00421498" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422810" "00421499" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422811" "00421500" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422812" "00421501" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422813" "00421502" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422814" "00421503" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422815" "00421504" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422816" "00421505" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422817" "00421506" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422818" "00421507" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422819" "00421508" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422820" "00421509" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422821" "00421510" "1" "00006" "00006" "2022-11-06 13:23:16" "" "" "SEQ;SEQ-NG" "DNA" "" "gene panel PAH, GCH1, PTS, QDPR" "0000422834" "00421523" "1" "00006" "00006" "2022-11-07 13:15:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000422835" "00421524" "1" "00006" "00006" "2022-11-07 13:15:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000422836" "00421525" "1" "00006" "00006" "2022-11-07 13:15:28" "" "" "MLPA;PCR;SEQ" "DNA" "" "" "0000422846" "00421535" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422847" "00421536" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422848" "00421537" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422849" "00421538" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422850" "00421539" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422851" "00421540" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422852" "00421541" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422853" "00421542" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422854" "00421543" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422855" "00421544" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422856" "00421545" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422857" "00421546" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422858" "00421547" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422859" "00421548" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422860" "00421549" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422861" "00421550" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422862" "00421551" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422863" "00421552" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422864" "00421553" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422865" "00421554" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422866" "00421555" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422867" "00421556" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422868" "00421557" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422869" "00421558" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422870" "00421559" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422871" "00421560" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422872" "00421561" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422873" "00421562" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422874" "00421563" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422875" "00421564" "1" "00006" "00006" "2022-11-07 14:08:01" "" "" "SSCA;SEQ" "DNA" "" "" "0000422879" "00421568" "1" "00006" "00006" "2022-11-07 14:54:20" "" "" "FISH;PCR;SEQ" "DNA" "" "" "0000422887" "00421576" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422888" "00421577" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422889" "00421578" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422890" "00421579" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422891" "00421580" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422892" "00421581" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422893" "00421582" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422894" "00421583" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422895" "00421584" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422896" "00421585" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422897" "00421586" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422898" "00421587" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422899" "00421588" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422900" "00421589" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422901" "00421590" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422902" "00421591" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422903" "00421592" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422904" "00421593" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422905" "00421594" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422906" "00421595" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422907" "00421596" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422908" "00421597" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422909" "00421598" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422910" "00421599" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422911" "00421600" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422912" "00421601" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422913" "00421602" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422914" "00421603" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422915" "00421604" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422916" "00421605" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422917" "00421606" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422918" "00421607" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422919" "00421608" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422920" "00421609" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422921" "00421610" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422922" "00421611" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422923" "00421612" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422924" "00421613" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422925" "00421614" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422926" "00421615" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422927" "00421616" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422928" "00421617" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422929" "00421618" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422930" "00421619" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422931" "00421620" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422932" "00421621" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422933" "00421622" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422934" "00421623" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422935" "00421624" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422936" "00421625" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422937" "00421626" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422938" "00421627" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422939" "00421628" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422940" "00421629" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422941" "00421630" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422942" "00421631" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422943" "00421632" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422944" "00421633" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422945" "00421634" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422946" "00421635" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422947" "00421636" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422948" "00421637" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422949" "00421638" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422950" "00421639" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422951" "00421640" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422952" "00421641" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422953" "00421642" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422954" "00421643" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422955" "00421644" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422956" "00421645" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422957" "00421646" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422958" "00421647" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422959" "00421648" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422960" "00421649" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422961" "00421650" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422962" "00421651" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422963" "00421652" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422964" "00421653" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422965" "00421654" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422966" "00421655" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422967" "00421656" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422968" "00421657" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422969" "00421658" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422970" "00421659" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422971" "00421660" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422972" "00421661" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422973" "00421662" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422974" "00421663" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422975" "00421664" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422976" "00421665" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422977" "00421666" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422978" "00421667" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422979" "00421668" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422980" "00421669" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422981" "00421670" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422982" "00421671" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422983" "00421672" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422984" "00421673" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422985" "00421674" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422986" "00421675" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422987" "00421676" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422988" "00421677" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422989" "00421678" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422990" "00421679" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422991" "00421680" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422992" "00421681" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422993" "00421682" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000422994" "00421683" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422995" "00421684" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422996" "00421685" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422997" "00421686" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422998" "00421687" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000422999" "00421688" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423000" "00421689" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423001" "00421690" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000423002" "00421691" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423003" "00421692" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423004" "00421693" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423005" "00421694" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423006" "00421695" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423007" "00421696" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423008" "00421697" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423009" "00421698" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423010" "00421699" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423011" "00421700" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423012" "00421701" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423013" "00421702" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423014" "00421703" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423015" "00421704" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423016" "00421705" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423017" "00421706" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423018" "00421707" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423019" "00421708" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423020" "00421709" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423021" "00421710" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423022" "00421711" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423023" "00421712" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423024" "00421713" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423025" "00421714" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423026" "00421715" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423027" "00421716" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423028" "00421717" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423029" "00421718" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423030" "00421719" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423031" "00421720" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423032" "00421721" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423033" "00421722" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423034" "00421723" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423035" "00421724" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423036" "00421725" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423037" "00421726" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423038" "00421727" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423039" "00421728" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423040" "00421729" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423041" "00421730" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423042" "00421731" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423043" "00421732" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423044" "00421733" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423045" "00421734" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423046" "00421735" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423047" "00421736" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423048" "00421737" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423049" "00421738" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423050" "00421739" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423051" "00421740" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423052" "00421741" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423053" "00421742" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423054" "00421743" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423055" "00421744" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423056" "00421745" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423057" "00421746" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423058" "00421747" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423059" "00421748" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423060" "00421749" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423061" "00421750" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423062" "00421751" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423063" "00421752" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423064" "00421753" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423065" "00421754" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423066" "00421755" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423067" "00421756" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423068" "00421757" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423069" "00421758" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423070" "00421759" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423071" "00421760" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423072" "00421761" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000423073" "00421762" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423074" "00421763" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423075" "00421764" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423076" "00421765" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423077" "00421766" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423078" "00421767" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423079" "00421768" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423080" "00421769" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000423081" "00421770" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423082" "00421771" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423083" "00421772" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423084" "00421773" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423085" "00421774" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423086" "00421775" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423087" "00421776" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423088" "00421777" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423089" "00421778" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423090" "00421779" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423091" "00421780" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423092" "00421781" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423093" "00421782" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423094" "00421783" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423095" "00421784" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423096" "00421785" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423097" "00421786" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423098" "00421787" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423099" "00421788" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423100" "00421789" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423101" "00421790" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423102" "00421791" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423103" "00421792" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423104" "00421793" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423105" "00421794" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423106" "00421795" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423107" "00421796" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423108" "00421797" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423109" "00421798" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423110" "00421799" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423111" "00421800" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423112" "00421801" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423113" "00421802" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423114" "00421803" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423115" "00421804" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423116" "00421805" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423117" "00421806" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423118" "00421807" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423119" "00421808" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423120" "00421809" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000423121" "00421810" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423122" "00421811" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423123" "00421812" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423124" "00421813" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423125" "00421814" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423126" "00421815" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423127" "00421816" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423128" "00421817" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423129" "00421818" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423130" "00421819" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423131" "00421820" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423132" "00421821" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423133" "00421822" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423134" "00421823" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423135" "00421824" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423136" "00421825" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423137" "00421826" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423138" "00421827" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423139" "00421828" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423140" "00421829" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423141" "00421830" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423142" "00421831" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423143" "00421832" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423144" "00421833" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423145" "00421834" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423146" "00421835" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423147" "00421836" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423148" "00421837" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423149" "00421838" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423150" "00421839" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423151" "00421840" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423152" "00421841" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423153" "00421842" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423154" "00421843" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423155" "00421844" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423156" "00421845" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423157" "00421846" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423158" "00421847" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423159" "00421848" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423160" "00421849" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423161" "00421850" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423162" "00421851" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423163" "00421852" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423164" "00421853" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423165" "00421854" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423166" "00421855" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423167" "00421856" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423168" "00421857" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423169" "00421858" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423170" "00421859" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423171" "00421860" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423172" "00421861" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423173" "00421862" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000423174" "00421863" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423175" "00421864" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423176" "00421865" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423177" "00421866" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423178" "00421867" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423179" "00421868" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423180" "00421869" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423181" "00421870" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423182" "00421871" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423183" "00421872" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423184" "00421873" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423185" "00421874" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423186" "00421875" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423187" "00421876" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423188" "00421877" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423189" "00421878" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423190" "00421879" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423191" "00421880" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423192" "00421881" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423193" "00421882" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423194" "00421883" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423195" "00421884" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423196" "00421885" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423197" "00421886" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423198" "00421887" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423199" "00421888" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423200" "00421889" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423201" "00421890" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423202" "00421891" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423203" "00421892" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423204" "00421893" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423205" "00421894" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423206" "00421895" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423207" "00421896" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423208" "00421897" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423209" "00421898" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423210" "00421899" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423211" "00421900" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423212" "00421901" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423213" "00421902" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423214" "00421903" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423215" "00421904" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423216" "00421905" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423217" "00421906" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423218" "00421907" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423219" "00421908" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423220" "00421909" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423221" "00421910" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423222" "00421911" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423223" "00421912" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423224" "00421913" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423225" "00421914" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423226" "00421915" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423227" "00421916" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423228" "00421917" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423229" "00421918" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423230" "00421919" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423231" "00421920" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423232" "00421921" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423233" "00421922" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423234" "00421923" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423235" "00421924" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423236" "00421925" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423237" "00421926" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423238" "00421927" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423239" "00421928" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423240" "00421929" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423241" "00421930" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423242" "00421931" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423243" "00421932" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423244" "00421933" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "MLPA;SEQ" "DNA" "" "" "0000423245" "00421934" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423246" "00421935" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423247" "00421936" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423248" "00421937" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423249" "00421938" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423250" "00421939" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423251" "00421940" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423252" "00421941" "1" "00006" "00006" "2022-11-08 08:51:53" "" "" "SEQ" "DNA" "" "" "0000423313" "00422002" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423314" "00422003" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423315" "00422004" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423316" "00422005" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423317" "00422006" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423318" "00422007" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423319" "00422008" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423320" "00422009" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423321" "00422010" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423322" "00422011" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423323" "00422012" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423324" "00422013" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423325" "00422014" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423326" "00422015" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423327" "00422016" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423328" "00422017" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423329" "00422018" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423330" "00422019" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423331" "00422020" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423332" "00422021" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423333" "00422022" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423334" "00422023" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423335" "00422024" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423336" "00422025" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423337" "00422026" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423338" "00422027" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423339" "00422028" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423340" "00422029" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423341" "00422030" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423342" "00422031" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423343" "00422032" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423344" "00422033" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423345" "00422034" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423346" "00422035" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423347" "00422036" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423348" "00422037" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423349" "00422038" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423350" "00422039" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423351" "00422040" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423352" "00422041" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423353" "00422042" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423354" "00422043" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423355" "00422044" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423356" "00422045" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423357" "00422046" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423358" "00422047" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423359" "00422048" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423360" "00422049" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423361" "00422050" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423362" "00422051" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423363" "00422052" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423364" "00422053" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423365" "00422054" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423366" "00422055" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423367" "00422056" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423368" "00422057" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423369" "00422058" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423370" "00422059" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423371" "00422060" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423372" "00422061" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423373" "00422062" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423374" "00422063" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423375" "00422064" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423376" "00422065" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423377" "00422066" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423378" "00422067" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423379" "00422068" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423380" "00422069" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423381" "00422070" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423382" "00422071" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423383" "00422072" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423384" "00422073" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423385" "00422074" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423386" "00422075" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423387" "00422076" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423388" "00422077" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423389" "00422078" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423390" "00422079" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423391" "00422080" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423392" "00422081" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423393" "00422082" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423394" "00422083" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423395" "00422084" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423396" "00422085" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423397" "00422086" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423398" "00422087" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423399" "00422088" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423400" "00422089" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423401" "00422090" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423402" "00422091" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423403" "00422092" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423404" "00422093" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423405" "00422094" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423406" "00422095" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423407" "00422096" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423408" "00422097" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423409" "00422098" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423410" "00422099" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423411" "00422100" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423412" "00422101" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423413" "00422102" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423414" "00422103" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423415" "00422104" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423416" "00422105" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423417" "00422106" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423418" "00422107" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423419" "00422108" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423420" "00422109" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423421" "00422110" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423422" "00422111" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423423" "00422112" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423424" "00422113" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423425" "00422114" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423426" "00422115" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423427" "00422116" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423428" "00422117" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423429" "00422118" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423430" "00422119" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423431" "00422120" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423432" "00422121" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423433" "00422122" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423434" "00422123" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423435" "00422124" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423436" "00422125" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423437" "00422126" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423438" "00422127" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423439" "00422128" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423440" "00422129" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423441" "00422130" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423442" "00422131" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423443" "00422132" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423444" "00422133" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423445" "00422134" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423446" "00422135" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423447" "00422136" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423448" "00422137" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423449" "00422138" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423450" "00422139" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423451" "00422140" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423452" "00422141" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423453" "00422142" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423454" "00422143" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423455" "00422144" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423456" "00422145" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423457" "00422146" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423458" "00422147" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423459" "00422148" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423460" "00422149" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423461" "00422150" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423462" "00422151" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423463" "00422152" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423464" "00422153" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423465" "00422154" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423466" "00422155" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423467" "00422156" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423468" "00422157" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423469" "00422158" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423470" "00422159" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423471" "00422160" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423472" "00422161" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423473" "00422162" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423474" "00422163" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423475" "00422164" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423476" "00422165" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423477" "00422166" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423478" "00422167" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423479" "00422168" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423480" "00422169" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423481" "00422170" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423482" "00422171" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423483" "00422172" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423484" "00422173" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423485" "00422174" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423486" "00422175" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423487" "00422176" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423488" "00422177" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423489" "00422178" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423490" "00422179" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423491" "00422180" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423492" "00422181" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423493" "00422182" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423494" "00422183" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423495" "00422184" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423496" "00422185" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423497" "00422186" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423498" "00422187" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423499" "00422188" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423500" "00422189" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423501" "00422190" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423502" "00422191" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423503" "00422192" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423504" "00422193" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423505" "00422194" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423506" "00422195" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423507" "00422196" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423508" "00422197" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423509" "00422198" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423510" "00422199" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423511" "00422200" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423512" "00422201" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423513" "00422202" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423514" "00422203" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423515" "00422204" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423516" "00422205" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423517" "00422206" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423518" "00422207" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423519" "00422208" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423520" "00422209" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423521" "00422210" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423522" "00422211" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423523" "00422212" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423524" "00422213" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423525" "00422214" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423526" "00422215" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423527" "00422216" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423528" "00422217" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423529" "00422218" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423530" "00422219" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423531" "00422220" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000423532" "00422221" "1" "00006" "00006" "2022-11-09 08:37:34" "" "" "SEQ" "DNA" "" "" "0000426330" "00425010" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426331" "00425011" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426332" "00425012" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426333" "00425013" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426334" "00425014" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426335" "00425015" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426336" "00425016" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426337" "00425017" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426338" "00425018" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426339" "00425019" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426340" "00425020" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426341" "00425021" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426342" "00425022" "1" "00006" "00006" "2022-11-24 19:54:55" "" "" "SEQ" "DNA" "" "" "0000426343" "00425023" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426344" "00425024" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426345" "00425025" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426346" "00425026" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426347" "00425027" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426348" "00425028" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426349" "00425029" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426350" "00425030" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426351" "00425031" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426352" "00425032" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426353" "00425033" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426354" "00425034" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426355" "00425035" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426356" "00425036" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426357" "00425037" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426358" "00425038" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426359" "00425039" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426360" "00425040" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426361" "00425041" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426362" "00425042" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426363" "00425043" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426364" "00425044" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426365" "00425045" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426366" "00425046" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426367" "00425047" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426368" "00425048" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426369" "00425049" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426370" "00425050" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426371" "00425051" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426372" "00425052" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426373" "00425053" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426374" "00425054" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426375" "00425055" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426376" "00425056" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426377" "00425057" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426378" "00425058" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426379" "00425059" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426380" "00425060" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426381" "00425061" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426382" "00425062" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426383" "00425063" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426384" "00425064" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426385" "00425065" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426386" "00425066" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426387" "00425067" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426388" "00425068" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426389" "00425069" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426390" "00425070" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426391" "00425071" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426392" "00425072" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426393" "00425073" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426394" "00425074" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426395" "00425075" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426396" "00425076" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426397" "00425077" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426398" "00425078" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426399" "00425079" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426400" "00425080" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426401" "00425081" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426402" "00425082" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426403" "00425083" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426404" "00425084" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426405" "00425085" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426406" "00425086" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426407" "00425087" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426408" "00425088" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426409" "00425089" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426410" "00425090" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426411" "00425091" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426412" "00425092" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426413" "00425093" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426414" "00425094" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426415" "00425095" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426416" "00425096" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426417" "00425097" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426418" "00425098" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426419" "00425099" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426420" "00425100" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426421" "00425101" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426422" "00425102" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426423" "00425103" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426424" "00425104" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426425" "00425105" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426426" "00425106" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426427" "00425107" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426428" "00425108" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426429" "00425109" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426430" "00425110" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426431" "00425111" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426432" "00425112" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426433" "00425113" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426434" "00425114" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426435" "00425115" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426436" "00425116" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426437" "00425117" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426438" "00425118" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426439" "00425119" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426440" "00425120" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426441" "00425121" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426442" "00425122" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426443" "00425123" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426444" "00425124" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426445" "00425125" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426446" "00425126" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426447" "00425127" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426448" "00425128" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426449" "00425129" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426450" "00425130" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426451" "00425131" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426452" "00425132" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426453" "00425133" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426454" "00425134" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426455" "00425135" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426456" "00425136" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426457" "00425137" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426458" "00425138" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426459" "00425139" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426460" "00425140" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426461" "00425141" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426462" "00425142" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426463" "00425143" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426464" "00425144" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426465" "00425145" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426466" "00425146" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426467" "00425147" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426468" "00425148" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426469" "00425149" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426470" "00425150" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426471" "00425151" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426472" "00425152" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426473" "00425153" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426474" "00425154" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426475" "00425155" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426476" "00425156" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426477" "00425157" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426478" "00425158" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426479" "00425159" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426480" "00425160" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426481" "00425161" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426482" "00425162" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426483" "00425163" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426484" "00425164" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426485" "00425165" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426486" "00425166" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426487" "00425167" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426488" "00425168" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426489" "00425169" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426490" "00425170" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426491" "00425171" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426492" "00425172" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426493" "00425173" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426494" "00425174" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426495" "00425175" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426496" "00425176" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426497" "00425177" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426498" "00425178" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426499" "00425179" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426500" "00425180" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426501" "00425181" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426502" "00425182" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426503" "00425183" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426504" "00425184" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426505" "00425185" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426506" "00425186" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426507" "00425187" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426508" "00425188" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426509" "00425189" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426510" "00425190" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426511" "00425191" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426512" "00425192" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426513" "00425193" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426514" "00425194" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426515" "00425195" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426516" "00425196" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426517" "00425197" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426518" "00425198" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426519" "00425199" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426520" "00425200" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426521" "00425201" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426522" "00425202" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426523" "00425203" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426524" "00425204" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426525" "00425205" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426526" "00425206" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426527" "00425207" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426528" "00425208" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426529" "00425209" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426530" "00425210" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426531" "00425211" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426532" "00425212" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426533" "00425213" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426534" "00425214" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426535" "00425215" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426536" "00425216" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426537" "00425217" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426538" "00425218" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426539" "00425219" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426540" "00425220" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426541" "00425221" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426542" "00425222" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426543" "00425223" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426544" "00425224" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426545" "00425225" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426546" "00425226" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426547" "00425227" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426548" "00425228" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426549" "00425229" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426550" "00425230" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426551" "00425231" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426552" "00425232" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426553" "00425233" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426554" "00425234" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426555" "00425235" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426556" "00425236" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426557" "00425237" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426558" "00425238" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426559" "00425239" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426560" "00425240" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426561" "00425241" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426562" "00425242" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426563" "00425243" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426564" "00425244" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426565" "00425245" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426566" "00425246" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426567" "00425247" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426568" "00425248" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426569" "00425249" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426570" "00425250" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426571" "00425251" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426572" "00425252" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426573" "00425253" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426574" "00425254" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426575" "00425255" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426576" "00425256" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426577" "00425257" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426578" "00425258" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426579" "00425259" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426580" "00425260" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426581" "00425261" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426582" "00425262" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426583" "00425263" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426584" "00425264" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426585" "00425265" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426586" "00425266" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426587" "00425267" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426588" "00425268" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426589" "00425269" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426590" "00425270" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426591" "00425271" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426592" "00425272" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426593" "00425273" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426594" "00425274" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426595" "00425275" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426596" "00425276" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426597" "00425277" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426598" "00425278" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426599" "00425279" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426600" "00425280" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426601" "00425281" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426602" "00425282" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426603" "00425283" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426604" "00425284" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426605" "00425285" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426606" "00425286" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426607" "00425287" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426608" "00425288" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426609" "00425289" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426610" "00425290" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426611" "00425291" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426612" "00425292" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426613" "00425293" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426614" "00425294" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426615" "00425295" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426616" "00425296" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426617" "00425297" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426618" "00425298" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426619" "00425299" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426620" "00425300" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426621" "00425301" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426622" "00425302" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426623" "00425303" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426624" "00425304" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426625" "00425305" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426626" "00425306" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426627" "00425307" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426628" "00425308" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426629" "00425309" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426630" "00425310" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426631" "00425311" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426632" "00425312" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426633" "00425313" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426634" "00425314" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426635" "00425315" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426636" "00425316" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426637" "00425317" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426638" "00425318" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426639" "00425319" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426640" "00425320" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426641" "00425321" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426642" "00425322" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426643" "00425323" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426644" "00425324" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426645" "00425325" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426646" "00425326" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426647" "00425327" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426648" "00425328" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426649" "00425329" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426650" "00425330" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426651" "00425331" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426652" "00425332" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426653" "00425333" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426654" "00425334" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426655" "00425335" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426656" "00425336" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426657" "00425337" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426658" "00425338" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426659" "00425339" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426660" "00425340" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426661" "00425341" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426662" "00425342" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426663" "00425343" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426664" "00425344" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426665" "00425345" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426666" "00425346" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426667" "00425347" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426668" "00425348" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426669" "00425349" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426670" "00425350" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426671" "00425351" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426672" "00425352" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426673" "00425353" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426674" "00425354" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426675" "00425355" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426676" "00425356" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426677" "00425357" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426678" "00425358" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426679" "00425359" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426680" "00425360" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426681" "00425361" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426682" "00425362" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426683" "00425363" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426684" "00425364" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426685" "00425365" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426686" "00425366" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426687" "00425367" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426688" "00425368" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426689" "00425369" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426690" "00425370" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426691" "00425371" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426692" "00425372" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426693" "00425373" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426694" "00425374" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426695" "00425375" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426696" "00425376" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426697" "00425377" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426698" "00425378" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426699" "00425379" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426700" "00425380" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426701" "00425381" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426702" "00425382" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426703" "00425383" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426704" "00425384" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426705" "00425385" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426706" "00425386" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426707" "00425387" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426708" "00425388" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426709" "00425389" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426710" "00425390" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426711" "00425391" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426712" "00425392" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426713" "00425393" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426714" "00425394" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426715" "00425395" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426716" "00425396" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426717" "00425397" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426718" "00425398" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426719" "00425399" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426720" "00425400" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426721" "00425401" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426722" "00425402" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426723" "00425403" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426724" "00425404" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426725" "00425405" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426726" "00425406" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426727" "00425407" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426728" "00425408" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426729" "00425409" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426730" "00425410" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426731" "00425411" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426732" "00425412" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426733" "00425413" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426734" "00425414" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426735" "00425415" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426736" "00425416" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426737" "00425417" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426738" "00425418" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426739" "00425419" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426740" "00425420" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426741" "00425421" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426742" "00425422" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426743" "00425423" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426744" "00425424" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426745" "00425425" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426746" "00425426" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426747" "00425427" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426748" "00425428" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426749" "00425429" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426750" "00425430" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426751" "00425431" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426752" "00425432" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426753" "00425433" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426754" "00425434" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426755" "00425435" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426756" "00425436" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426757" "00425437" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426758" "00425438" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426759" "00425439" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426760" "00425440" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426761" "00425441" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426762" "00425442" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426763" "00425443" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426764" "00425444" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426765" "00425445" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426766" "00425446" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426767" "00425447" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426768" "00425448" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426769" "00425449" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426770" "00425450" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426771" "00425451" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426772" "00425452" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426773" "00425453" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426774" "00425454" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426775" "00425455" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426776" "00425456" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426777" "00425457" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426778" "00425458" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426779" "00425459" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426780" "00425460" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426781" "00425461" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426782" "00425462" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426783" "00425463" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426784" "00425464" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426785" "00425465" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426786" "00425466" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426787" "00425467" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426788" "00425468" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426789" "00425469" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426790" "00425470" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426791" "00425471" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426792" "00425472" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426793" "00425473" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426794" "00425474" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426795" "00425475" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426796" "00425476" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426797" "00425477" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426798" "00425478" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426799" "00425479" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426800" "00425480" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426801" "00425481" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426802" "00425482" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426803" "00425483" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426804" "00425484" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426805" "00425485" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426806" "00425486" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426807" "00425487" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426808" "00425488" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426809" "00425489" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426810" "00425490" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426811" "00425491" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426812" "00425492" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426813" "00425493" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426814" "00425494" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426815" "00425495" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426816" "00425496" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426817" "00425497" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426818" "00425498" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426819" "00425499" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426820" "00425500" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426821" "00425501" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426822" "00425502" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426823" "00425503" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426824" "00425504" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426825" "00425505" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426826" "00425506" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426827" "00425507" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426828" "00425508" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426829" "00425509" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426830" "00425510" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426831" "00425511" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426832" "00425512" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426833" "00425513" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426834" "00425514" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426835" "00425515" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426836" "00425516" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426837" "00425517" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426838" "00425518" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426839" "00425519" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426840" "00425520" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426841" "00425521" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426842" "00425522" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426843" "00425523" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426844" "00425524" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426845" "00425525" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426846" "00425526" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426847" "00425527" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426848" "00425528" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426849" "00425529" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426850" "00425530" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426851" "00425531" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426852" "00425532" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426853" "00425533" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426854" "00425534" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426855" "00425535" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426856" "00425536" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426857" "00425537" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426858" "00425538" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426859" "00425539" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426860" "00425540" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426861" "00425541" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426862" "00425542" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426863" "00425543" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426864" "00425544" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426865" "00425545" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426866" "00425546" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426867" "00425547" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426868" "00425548" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426869" "00425549" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426870" "00425550" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426871" "00425551" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426872" "00425552" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426873" "00425553" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426874" "00425554" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426875" "00425555" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426876" "00425556" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426877" "00425557" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426878" "00425558" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426879" "00425559" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426880" "00425560" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426881" "00425561" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426882" "00425562" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426883" "00425563" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426884" "00425564" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426885" "00425565" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426886" "00425566" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426887" "00425567" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426888" "00425568" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426889" "00425569" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426890" "00425570" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426891" "00425571" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426892" "00425572" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426893" "00425573" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426894" "00425574" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426895" "00425575" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426896" "00425576" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426897" "00425577" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426898" "00425578" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426899" "00425579" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426900" "00425580" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426901" "00425581" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426902" "00425582" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426903" "00425583" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426904" "00425584" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426905" "00425585" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426906" "00425586" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426907" "00425587" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426908" "00425588" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426909" "00425589" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426910" "00425590" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426911" "00425591" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426912" "00425592" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426913" "00425593" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426914" "00425594" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426915" "00425595" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426916" "00425596" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426917" "00425597" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426918" "00425598" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426919" "00425599" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426920" "00425600" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426921" "00425601" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426922" "00425602" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426923" "00425603" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426924" "00425604" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426925" "00425605" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426926" "00425606" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426927" "00425607" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426928" "00425608" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426929" "00425609" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426930" "00425610" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426931" "00425611" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426932" "00425612" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426933" "00425613" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426934" "00425614" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426935" "00425615" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426936" "00425616" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426937" "00425617" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426938" "00425618" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426939" "00425619" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426940" "00425620" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426941" "00425621" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426942" "00425622" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426943" "00425623" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426944" "00425624" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426945" "00425625" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426946" "00425626" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426947" "00425627" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426948" "00425628" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426949" "00425629" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426950" "00425630" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426951" "00425631" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426952" "00425632" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426953" "00425633" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426954" "00425634" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426955" "00425635" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426956" "00425636" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426957" "00425637" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426958" "00425638" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426959" "00425639" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426960" "00425640" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426961" "00425641" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426962" "00425642" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;MLPA;SEQ" "DNA" "" "" "0000426963" "00425643" "1" "00006" "00006" "2022-11-24 21:14:37" "" "" "ARMS;SEQ" "DNA" "" "" "0000426971" "00425651" "1" "00006" "00006" "2022-11-25 13:25:08" "" "" "RT-PCR;SEQ;SSCAf" "DNA;RNA" "" "" "0000426972" "00425652" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426973" "00425653" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426974" "00425654" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426975" "00425655" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426976" "00425656" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426977" "00425657" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426978" "00425658" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426979" "00425659" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426980" "00425660" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426981" "00425661" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426982" "00425662" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426983" "00425663" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426984" "00425664" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426985" "00425665" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426986" "00425666" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426987" "00425667" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426988" "00425668" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426989" "00425669" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426990" "00425670" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426991" "00425671" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426992" "00425672" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426993" "00425673" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426994" "00425674" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426995" "00425675" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426996" "00425676" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426997" "00425677" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426998" "00425678" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000426999" "00425679" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427000" "00425680" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427001" "00425681" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427002" "00425682" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427003" "00425683" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427004" "00425684" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427005" "00425685" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427006" "00425686" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427007" "00425687" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427008" "00425688" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427009" "00425689" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427010" "00425690" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427011" "00425691" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427012" "00425692" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427013" "00425693" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427014" "00425694" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427015" "00425695" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427016" "00425696" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427017" "00425697" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427018" "00425698" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427019" "00425699" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427020" "00425700" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427021" "00425701" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427022" "00425702" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427023" "00425703" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427024" "00425704" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427025" "00425705" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427026" "00425706" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427027" "00425707" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427028" "00425708" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427029" "00425709" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427030" "00425710" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427031" "00425711" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427032" "00425712" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427033" "00425713" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427034" "00425714" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427035" "00425715" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427036" "00425716" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427037" "00425717" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427038" "00425718" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427039" "00425719" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427040" "00425720" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427041" "00425721" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427042" "00425722" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427043" "00425723" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427044" "00425724" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427045" "00425725" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427046" "00425726" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427047" "00425727" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427048" "00425728" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427049" "00425729" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427050" "00425730" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427051" "00425731" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427052" "00425732" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427053" "00425733" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427054" "00425734" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427055" "00425735" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427056" "00425736" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427057" "00425737" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427058" "00425738" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427059" "00425739" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427060" "00425740" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427061" "00425741" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427062" "00425742" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427063" "00425743" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427064" "00425744" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427065" "00425745" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427066" "00425746" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427067" "00425747" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427068" "00425748" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427069" "00425749" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427070" "00425750" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427071" "00425751" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427072" "00425752" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427073" "00425753" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427074" "00425754" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427075" "00425755" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427076" "00425756" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427077" "00425757" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427078" "00425758" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427079" "00425759" "1" "00006" "00006" "2022-11-25 15:03:45" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427091" "00425771" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427092" "00425772" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427093" "00425773" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427094" "00425774" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427095" "00425775" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427096" "00425776" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427097" "00425777" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427098" "00425778" "1" "00006" "00006" "2022-11-25 15:33:07" "" "" "DGGE;SEQ" "DNA" "" "" "0000427111" "00425791" "1" "00006" "00006" "2022-11-25 16:12:43" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427112" "00425792" "1" "00006" "00006" "2022-11-25 16:12:43" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427113" "00425793" "1" "00006" "00006" "2022-11-25 16:12:43" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427114" "00425794" "1" "00006" "00006" "2022-11-25 16:12:43" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427115" "00425795" "1" "00006" "00006" "2022-11-25 16:12:43" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427116" "00425796" "1" "00006" "00006" "2022-11-25 16:12:43" "" "" "DGGE;SEQ;SSCA" "DNA" "" "" "0000427120" "00425800" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427121" "00425801" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427122" "00425802" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427123" "00425803" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427124" "00425804" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427125" "00425805" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427126" "00425806" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427127" "00425807" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427128" "00425808" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427129" "00425809" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427130" "00425810" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427131" "00425811" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427132" "00425812" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427133" "00425813" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427134" "00425814" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427135" "00425815" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427136" "00425816" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427137" "00425817" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427138" "00425818" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427139" "00425819" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427140" "00425820" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427141" "00425821" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427142" "00425822" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427143" "00425823" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427144" "00425824" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427145" "00425825" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427146" "00425826" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427147" "00425827" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427148" "00425828" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427149" "00425829" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427150" "00425830" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427151" "00425831" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427152" "00425832" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427153" "00425833" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427154" "00425834" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427155" "00425835" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427156" "00425836" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427157" "00425837" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427158" "00425838" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427159" "00425839" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427160" "00425840" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427161" "00425841" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427162" "00425842" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427163" "00425843" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427164" "00425844" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427165" "00425845" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427166" "00425846" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427167" "00425847" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427168" "00425848" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427169" "00425849" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427170" "00425850" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427171" "00425851" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427172" "00425852" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427173" "00425853" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427174" "00425854" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427175" "00425855" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427176" "00425856" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427177" "00425857" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427178" "00425858" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427179" "00425859" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427180" "00425860" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427181" "00425861" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427182" "00425862" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427183" "00425863" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427184" "00425864" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427185" "00425865" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427186" "00425866" "1" "00006" "00006" "2022-11-25 19:18:06" "" "" "MCA;SEQ" "DNA" "" "" "0000427216" "00425896" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427217" "00425897" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427218" "00425898" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427219" "00425899" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427220" "00425900" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427221" "00425901" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427222" "00425902" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427223" "00425903" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427224" "00425904" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427225" "00425905" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427226" "00425906" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427227" "00425907" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427228" "00425908" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427229" "00425909" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427230" "00425910" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427231" "00425911" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427232" "00425912" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427233" "00425913" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427234" "00425914" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427235" "00425915" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427236" "00425916" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427237" "00425917" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427238" "00425918" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427239" "00425919" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427240" "00425920" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427241" "00425921" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427242" "00425922" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427243" "00425923" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427244" "00425924" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427245" "00425925" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427246" "00425926" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427247" "00425927" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427248" "00425928" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427249" "00425929" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427250" "00425930" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427251" "00425931" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427252" "00425932" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;MLPA;SEQ" "DNA" "" "" "0000427253" "00425933" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427254" "00425934" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427255" "00425935" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427256" "00425936" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427257" "00425937" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427258" "00425938" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427259" "00425939" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427260" "00425940" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427261" "00425941" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427262" "00425942" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427263" "00425943" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427264" "00425944" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427265" "00425945" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427266" "00425946" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427267" "00425947" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427268" "00425948" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427269" "00425949" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427270" "00425950" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427271" "00425951" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427272" "00425952" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427273" "00425953" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427274" "00425954" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427275" "00425955" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427276" "00425956" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427277" "00425957" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427278" "00425958" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427279" "00425959" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427280" "00425960" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427281" "00425961" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427282" "00425962" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427283" "00425963" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427284" "00425964" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427285" "00425965" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427286" "00425966" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427287" "00425967" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427288" "00425968" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427289" "00425969" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427290" "00425970" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427291" "00425971" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427292" "00425972" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427293" "00425973" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427294" "00425974" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427295" "00425975" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427296" "00425976" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427297" "00425977" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427298" "00425978" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427299" "00425979" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427300" "00425980" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427301" "00425981" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427302" "00425982" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427303" "00425983" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427304" "00425984" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427305" "00425985" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427306" "00425986" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427307" "00425987" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427308" "00425988" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427309" "00425989" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427310" "00425990" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427311" "00425991" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427312" "00425992" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427313" "00425993" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427314" "00425994" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427315" "00425995" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427316" "00425996" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427317" "00425997" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427318" "00425998" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427319" "00425999" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427320" "00426000" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427321" "00426001" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427322" "00426002" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427323" "00426003" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427324" "00426004" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427325" "00426005" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427326" "00426006" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427327" "00426007" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427328" "00426008" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427329" "00426009" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427330" "00426010" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427331" "00426011" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427332" "00426012" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427333" "00426013" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427334" "00426014" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427335" "00426015" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427336" "00426016" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427337" "00426017" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427338" "00426018" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427339" "00426019" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427340" "00426020" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427341" "00426021" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427342" "00426022" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427343" "00426023" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427344" "00426024" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427345" "00426025" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427346" "00426026" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427347" "00426027" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427348" "00426028" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427349" "00426029" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427350" "00426030" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427351" "00426031" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427352" "00426032" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427353" "00426033" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427354" "00426034" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427355" "00426035" "1" "00006" "00006" "2022-11-26 12:40:47" "" "" "DGGE;SEQ" "DNA" "" "" "0000427356" "00426036" "1" "00006" "00006" "2022-11-26 12:56:13" "" "" "SEQ" "DNA" "" "" "0000427357" "00426037" "1" "00006" "00006" "2022-11-26 15:06:24" "" "" "SEQ" "DNA" "" "" "0000427358" "00426038" "1" "00006" "00006" "2022-11-26 15:12:05" "" "" "RT-PCR;SEQ" "DNA" "" "" "0000427359" "00426039" "1" "00006" "00006" "2022-11-26 15:17:45" "" "" "SEQ" "DNA" "" "" "0000427360" "00426040" "1" "00006" "00006" "2022-11-26 15:21:09" "" "" "SEQ" "DNA" "" "" "0000427361" "00426041" "1" "00006" "00006" "2022-11-26 15:23:54" "" "" "SEQ" "DNA" "" "" "0000427523" "00426203" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427524" "00426204" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427525" "00426205" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427526" "00426206" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427527" "00426207" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427528" "00426208" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427529" "00426209" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427530" "00426210" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427531" "00426211" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427532" "00426212" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427533" "00426213" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427534" "00426214" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427535" "00426215" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427536" "00426216" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427537" "00426217" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427538" "00426218" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427539" "00426219" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427540" "00426220" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427541" "00426221" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427542" "00426222" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427543" "00426223" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427544" "00426224" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427545" "00426225" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427546" "00426226" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427547" "00426227" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427548" "00426228" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427549" "00426229" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427550" "00426230" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427551" "00426231" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427552" "00426232" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427553" "00426233" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427554" "00426234" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427555" "00426235" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427556" "00426236" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427557" "00426237" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427558" "00426238" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427559" "00426239" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427560" "00426240" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427561" "00426241" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427562" "00426242" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427563" "00426243" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427564" "00426244" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427565" "00426245" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427566" "00426246" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427567" "00426247" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427568" "00426248" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427569" "00426249" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427570" "00426250" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427571" "00426251" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427572" "00426252" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427573" "00426253" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427574" "00426254" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427575" "00426255" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427576" "00426256" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427577" "00426257" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427578" "00426258" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427579" "00426259" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427580" "00426260" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427581" "00426261" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427582" "00426262" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427583" "00426263" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427584" "00426264" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427585" "00426265" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427586" "00426266" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427587" "00426267" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427588" "00426268" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427589" "00426269" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427590" "00426270" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427591" "00426271" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427592" "00426272" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427593" "00426273" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427594" "00426274" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427595" "00426275" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427596" "00426276" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427597" "00426277" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427598" "00426278" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427599" "00426279" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427600" "00426280" "1" "00006" "00006" "2022-11-28 11:27:37" "" "" "SEQ" "DNA" "" "" "0000427601" "00426281" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427602" "00426282" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427603" "00426283" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427604" "00426284" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427605" "00426285" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427606" "00426286" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427607" "00426287" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427608" "00426288" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427609" "00426289" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427610" "00426290" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427611" "00426291" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427612" "00426292" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427613" "00426293" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427614" "00426294" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427615" "00426295" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427616" "00426296" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427617" "00426297" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427618" "00426298" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427619" "00426299" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427620" "00426300" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427621" "00426301" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427622" "00426302" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427623" "00426303" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427624" "00426304" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427625" "00426305" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427626" "00426306" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427627" "00426307" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427628" "00426308" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427629" "00426309" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427630" "00426310" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427631" "00426311" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427632" "00426312" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427633" "00426313" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427634" "00426314" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427635" "00426315" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427636" "00426316" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427637" "00426317" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427638" "00426318" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427639" "00426319" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427640" "00426320" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427641" "00426321" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427642" "00426322" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427643" "00426323" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427644" "00426324" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427645" "00426325" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427646" "00426326" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427647" "00426327" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427648" "00426328" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427649" "00426329" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427650" "00426330" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427651" "00426331" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427652" "00426332" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427653" "00426333" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427654" "00426334" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427655" "00426335" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427656" "00426336" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427657" "00426337" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427658" "00426338" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427659" "00426339" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000427660" "00426340" "1" "00006" "00006" "2022-11-28 12:01:54" "" "" "SEQ" "DNA" "" "" "0000428304" "00426984" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428305" "00426985" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428306" "00426986" "1" "00006" "00006" "2022-12-04 11:25:02" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428361" "00427041" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428384" "00427064" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428385" "00427065" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428386" "00427066" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428387" "00427067" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428388" "00427068" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428389" "00427069" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428390" "00427070" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428391" "00427071" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428392" "00427072" "1" "00006" "00006" "2022-12-04 12:45:35" "" "" "SEQ;SEQ-NG" "DNA" "" "custom gene panel" "0000428487" "00427166" "1" "00006" "00006" "2022-12-06 19:37:47" "" "" "DGGE;PCR;SEQ" "DNA" "" "" "0000451157" "00449566" "1" "01741" "01741" "2024-04-26 09:27:32" "" "" "SEQ" "DNA" "" "" "0000453725" "00452123" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453726" "00452124" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453727" "00452125" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453728" "00452126" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453729" "00452127" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453730" "00452128" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453731" "00452129" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453732" "00452130" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453733" "00452131" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453734" "00452132" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453735" "00452133" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453736" "00452134" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453737" "00452135" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453738" "00452136" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453739" "00452137" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453740" "00452138" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453741" "00452139" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453742" "00452140" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453743" "00452141" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453744" "00452142" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453745" "00452143" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453746" "00452144" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453747" "00452145" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453748" "00452146" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453749" "00452147" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453750" "00452148" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453751" "00452149" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453752" "00452150" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453753" "00452151" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453754" "00452152" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453755" "00452153" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453756" "00452154" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453757" "00452155" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453758" "00452156" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453759" "00452157" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000453760" "00452158" "1" "00006" "00006" "2024-07-12 14:11:07" "" "" "SEQ" "DNA" "" "" "0000455252" "00453640" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455253" "00453641" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455254" "00453642" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455255" "00453643" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455256" "00453644" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455257" "00453645" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455258" "00453646" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455259" "00453647" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455260" "00453648" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455261" "00453649" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455262" "00453650" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455263" "00453651" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455264" "00453652" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455265" "00453653" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455266" "00453654" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455267" "00453655" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455268" "00453656" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455269" "00453657" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455270" "00453658" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455271" "00453659" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455272" "00453660" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455273" "00453661" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455274" "00453662" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" "0000455275" "00453663" "1" "00006" "00006" "2024-09-11 15:27:41" "" "" "SEQ;SEQ-NG" "DNA" "" "119-gene panel" 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"PAH" "0000427063" "PAH" "0000427064" "PAH" "0000427065" "PAH" "0000427066" "PAH" "0000427067" "PAH" "0000427068" "PAH" "0000427069" "PAH" "0000427070" "PAH" "0000427071" "PAH" "0000427072" "PAH" "0000427073" "PAH" "0000427074" "PAH" "0000427075" "PAH" "0000427076" "PAH" "0000427077" "PAH" "0000427078" "PAH" "0000427079" "PAH" "0000427091" "PAH" "0000427092" "PAH" "0000427093" "PAH" "0000427094" "PAH" "0000427095" "PAH" "0000427096" "PAH" "0000427097" "PAH" "0000427098" "PAH" "0000427111" "PAH" "0000427112" "PAH" "0000427113" "PAH" "0000427114" "PAH" "0000427115" "PAH" "0000427116" "PAH" "0000427120" "PAH" "0000427121" "PAH" "0000427122" "PAH" "0000427123" "PAH" "0000427124" "PAH" "0000427125" "PAH" "0000427126" "PAH" "0000427127" "PAH" "0000427128" "PAH" "0000427129" "PAH" "0000427130" "PAH" "0000427131" "PAH" "0000427132" "PAH" "0000427133" "PAH" "0000427134" "PAH" "0000427135" "PAH" "0000427136" "PAH" "0000427137" "PAH" "0000427138" "PAH" "0000427139" "PAH" "0000427140" "PAH" "0000427141" "PAH" "0000427142" "PAH" "0000427143" "PAH" "0000427144" "PAH" "0000427145" "PAH" "0000427146" "PAH" "0000427147" "PAH" "0000427148" "PAH" "0000427149" "PAH" "0000427150" "PAH" "0000427151" "PAH" "0000427152" "PAH" "0000427153" "PAH" "0000427154" "PAH" "0000427155" "PAH" "0000427156" "PAH" "0000427157" "PAH" "0000427158" "PAH" "0000427159" "PAH" "0000427160" "PAH" "0000427161" "PAH" "0000427162" "PAH" "0000427163" "PAH" "0000427164" "PAH" "0000427165" "PAH" "0000427166" "PAH" "0000427167" "PAH" "0000427168" "PAH" "0000427169" "PAH" "0000427170" "PAH" "0000427171" "PAH" "0000427172" "PAH" "0000427173" "PAH" "0000427174" "PAH" "0000427175" "PAH" "0000427176" "PAH" "0000427177" "PAH" "0000427178" "PAH" "0000427179" "PAH" "0000427180" "PAH" "0000427181" "PAH" "0000427182" "PAH" "0000427183" "PAH" "0000427184" "PAH" "0000427185" "PAH" "0000427186" "PAH" "0000427216" "PAH" "0000427217" "PAH" "0000427218" "PAH" "0000427219" "PAH" "0000427220" "PAH" "0000427221" "PAH" "0000427222" "PAH" "0000427223" "PAH" "0000427224" "PAH" "0000427225" "PAH" "0000427226" "PAH" "0000427227" "PAH" "0000427228" "PAH" "0000427229" "PAH" "0000427230" "PAH" "0000427231" "PAH" "0000427232" "PAH" "0000427233" "PAH" "0000427234" "PAH" "0000427235" "PAH" "0000427236" "PAH" "0000427237" "PAH" "0000427238" "PAH" "0000427239" "PAH" "0000427240" "PAH" "0000427241" "PAH" "0000427242" "PAH" "0000427243" "PAH" "0000427244" "PAH" "0000427245" "PAH" "0000427246" "PAH" "0000427247" "PAH" "0000427248" "PAH" "0000427249" "PAH" "0000427250" "PAH" "0000427251" "PAH" "0000427252" "PAH" "0000427253" "PAH" "0000427254" "PAH" "0000427255" "PAH" "0000427256" "PAH" "0000427257" "PAH" "0000427258" "PAH" "0000427259" "PAH" "0000427260" "PAH" "0000427261" "PAH" "0000427262" "PAH" "0000427263" "PAH" "0000427264" "PAH" "0000427265" "PAH" "0000427266" "PAH" "0000427267" "PAH" "0000427268" "PAH" "0000427269" "PAH" "0000427270" "PAH" "0000427271" "PAH" "0000427272" "PAH" "0000427273" "PAH" "0000427274" "PAH" "0000427275" "PAH" "0000427276" "PAH" "0000427277" "PAH" "0000427278" "PAH" "0000427279" "PAH" "0000427280" "PAH" "0000427281" "PAH" "0000427282" "PAH" "0000427283" "PAH" "0000427284" "PAH" "0000427285" "PAH" "0000427286" "PAH" "0000427287" "PAH" "0000427288" "PAH" "0000427289" "PAH" "0000427290" "PAH" "0000427291" "PAH" "0000427292" "PAH" "0000427293" "PAH" "0000427294" "PAH" "0000427295" "PAH" "0000427296" "PAH" "0000427297" "PAH" "0000427298" "PAH" "0000427299" "PAH" "0000427300" "PAH" "0000427301" "PAH" "0000427302" "PAH" "0000427303" "PAH" "0000427304" "PAH" "0000427305" "PAH" "0000427306" "PAH" "0000427307" "PAH" "0000427308" "PAH" "0000427309" "PAH" "0000427310" "PAH" "0000427311" "PAH" "0000427312" "PAH" "0000427313" "PAH" "0000427314" "PAH" "0000427315" "PAH" "0000427316" "PAH" "0000427317" "PAH" "0000427318" "PAH" "0000427319" "PAH" "0000427320" "PAH" "0000427321" "PAH" "0000427322" "PAH" "0000427323" "PAH" "0000427324" "PAH" "0000427325" "PAH" "0000427326" "PAH" "0000427327" "PAH" "0000427328" "PAH" "0000427329" "PAH" "0000427330" "PAH" "0000427331" "PAH" "0000427332" "PAH" "0000427333" "PAH" "0000427334" "PAH" "0000427335" "PAH" "0000427336" "PAH" "0000427337" "PAH" "0000427338" "PAH" "0000427339" "PAH" "0000427340" "PAH" "0000427341" "PAH" "0000427342" "PAH" "0000427343" "PAH" "0000427344" "PAH" "0000427345" "PAH" "0000427346" "PAH" "0000427347" "PAH" "0000427348" "PAH" "0000427349" "PAH" "0000427350" "PAH" "0000427351" "PAH" "0000427352" "PAH" "0000427353" "PAH" "0000427354" "PAH" "0000427355" "PAH" "0000427356" "PAH" "0000427357" "PAH" "0000427358" "PAH" "0000427359" "PAH" "0000427360" "PAH" "0000427361" "PAH" "0000427523" "PAH" "0000427524" "PAH" "0000427525" "PAH" "0000427526" "PAH" "0000427527" "PAH" "0000427528" "PAH" "0000427529" "PAH" "0000427530" "PAH" "0000427531" "PAH" "0000427532" "PAH" "0000427533" "PAH" "0000427534" "PAH" "0000427535" "PAH" "0000427536" "PAH" "0000427537" "PAH" "0000427538" "PAH" "0000427539" "PAH" "0000427540" "PAH" "0000427541" "PAH" "0000427542" "PAH" "0000427543" "PAH" "0000427544" "PAH" "0000427545" "PAH" "0000427546" "PAH" "0000427547" "PAH" "0000427548" "PAH" "0000427549" "PAH" "0000427550" "PAH" "0000427551" "PAH" "0000427552" "PAH" "0000427553" "PAH" "0000427554" "PAH" "0000427555" "PAH" "0000427556" "PAH" "0000427557" "PAH" "0000427558" "PAH" "0000427559" "PAH" "0000427560" "PAH" "0000427561" "PAH" "0000427562" "PAH" "0000427563" "PAH" "0000427564" "PAH" "0000427565" "PAH" "0000427566" "PAH" "0000427567" "PAH" "0000427568" "PAH" "0000427569" "PAH" "0000427570" "PAH" "0000427571" "PAH" "0000427572" "PAH" "0000427573" "PAH" "0000427574" "PAH" "0000427575" "PAH" "0000427576" "PAH" "0000427577" "PAH" "0000427578" "PAH" "0000427579" "PAH" "0000427580" "PAH" "0000427581" "PAH" "0000427582" "PAH" "0000427583" "PAH" "0000427584" "PAH" "0000427585" "PAH" "0000427586" "PAH" "0000427587" "PAH" "0000427588" "PAH" "0000427589" "PAH" "0000427590" "PAH" "0000427591" "PAH" "0000427592" "PAH" "0000427593" "PAH" "0000427594" "PAH" "0000427595" "PAH" "0000427596" "PAH" "0000427597" "PAH" "0000427598" "PAH" "0000427599" "PAH" "0000427600" "PAH" "0000427601" "PAH" "0000427602" "PAH" "0000427603" "PAH" "0000427604" "PAH" "0000427605" "PAH" "0000427606" "PAH" "0000427607" "PAH" "0000427608" "PAH" "0000427609" "PAH" "0000427610" "PAH" "0000427611" "PAH" "0000427612" "PAH" "0000427613" "PAH" "0000427614" "PAH" "0000427615" "PAH" "0000427616" "PAH" "0000427617" "PAH" "0000427618" "PAH" "0000427619" "PAH" "0000427620" "PAH" "0000427621" "PAH" "0000427622" "PAH" "0000427623" "PAH" "0000427624" "PAH" "0000427625" "PAH" "0000427626" "PAH" "0000427627" "PAH" "0000427628" "PAH" "0000427629" "PAH" "0000427630" "PAH" "0000427631" "PAH" "0000427632" "PAH" "0000427633" "PAH" "0000427634" "PAH" "0000427635" "PAH" "0000427636" "PAH" "0000427637" "PAH" "0000427638" "PAH" "0000427639" "PAH" "0000427640" "PAH" "0000427641" "PAH" "0000427642" "PAH" "0000427643" "PAH" "0000427644" "PAH" "0000427645" "PAH" "0000427646" "PAH" "0000427647" "PAH" "0000427648" "PAH" "0000427649" "PAH" "0000427650" "PAH" "0000427651" "PAH" "0000427652" "PAH" "0000427653" "PAH" "0000427654" "PAH" "0000427655" "PAH" "0000427656" "PAH" "0000427657" "PAH" "0000427658" "PAH" "0000427659" "PAH" "0000427660" "PAH" "0000428487" "PAH" "0000451157" "PAH" "0000453725" "PAH" "0000453726" "PAH" "0000453727" "PAH" "0000453728" "PAH" "0000453729" "PAH" "0000453730" "PAH" "0000453731" "PAH" "0000453732" "PAH" "0000453733" "PAH" "0000453734" "PAH" "0000453735" "PAH" "0000453736" "PAH" "0000453737" "PAH" "0000453738" "PAH" "0000453739" "PAH" "0000453740" "PAH" "0000453741" "PAH" "0000453742" "PAH" "0000453743" "PAH" "0000453744" "PAH" "0000453745" "PAH" "0000453746" "PAH" "0000453747" "PAH" "0000453748" "PAH" "0000453749" "PAH" "0000453750" "PAH" "0000453751" "PAH" "0000453752" "PAH" "0000453753" "PAH" "0000453754" "PAH" "0000453755" "PAH" "0000453756" "PAH" "0000453757" "PAH" "0000453758" "PAH" "0000453759" "PAH" "0000453760" "PAH" "0000469361" "PAH" ## 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 = 5962 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000000281" "0" "50" "12" "103260383" "103260383" "subst" "0.00101169" "00002" "PAH_000001" "g.103260383T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102866605T>C" "" "VUS" "" "0000000282" "0" "50" "12" "103260383" "103260383" "subst" "0.00101169" "00002" "PAH_000001" "g.103260383T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102866605T>C" "" "VUS" "" "0000000283" "0" "50" "12" "103238125" "103238125" "del" "0" "00002" "PAH_000002" "g.103238125del" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102844347del" "" "VUS" "" "0000000284" "0" "50" "12" "103246593" "103246593" "subst" "0.000109749" "00002" "PAH_000003" "g.103246593G>A" "" "{PAHvdb:309}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "VUS" "" "0000000285" "0" "50" "12" "103234252" "103234252" "subst" "0.000369588" "00002" "PAH_000004" "g.103234252T>C" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102840474T>C" "" "VUS" "" "0000000286" "0" "50" "12" "103234270" "103234270" "subst" "4.46773E-5" "00002" "PAH_000005" "g.103234270C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102840492C>T" "" "VUS" "" "0000000287" "0" "50" "12" "103248932" "103248932" "subst" "0.000552693" "00002" "PAH_000006" "g.103248932C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102855154C>T" "" "VUS" "" "0000000288" "0" "50" "12" "103246680" "103246680" "subst" "8.12889E-6" "00002" "PAH_000007" "g.103246680C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "g.102852902C>T" "" "VUS" "" "0000000289" "0" "50" "12" "103234177" "103234177" "subst" "0.000389946" "00002" "PAH_000008" "g.103234177C>T" "" "" "" " INTRON 12, IVS12+1G>A, CHR12:101758307G>A" "" "Germline" "" "" "" "" "" "g.102840399C>T" "" "VUS" "" "0000000290" "0" "50" "12" "103234177" "103234177" "subst" "0.000389946" "00002" "PAH_000008" "g.103234177C>T" "" "" "" "INTRON 12, IVS12+1G>A, CHR12:101758307G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "VUS" "" "0000021428" "1" "95" "12" "103271239" "103271239" "subst" "4.06085E-6" "00006" "PAH_000009" "g.103271239C>T" "" "{PMID:Sterl 2013:22526846}" "" "" "" "Unknown" "yes" "" "0" "" "" "g.102877461C>T" "" "pathogenic" "" "0000021429" "2" "95" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Sterl 2013:22526846}" "" "" "missense variant, catalytic domain, PAH-activity 2%" "Unknown" "yes" "" "0" "" "" "g.102840493G>A" "" "pathogenic" "" "0000048384" "0" "50" "12" "103237499" "103237499" "subst" "0" "01168" "PAH_000011" "g.103237499T>C" "" "{PMID:Ajami 2013:24301756}, {DOI:Ajami 2013:10.4238/2013.October.24.7}" "" "" "" "Unknown" "?" "" "0" "" "" "g.102843721T>C" "" "VUS" "" "0000048962" "1" "30" "12" "103237958" "103237959" "delins" "0" "00006" "PAH_000012" "g.103237958_103237959delinsCG" "" "{PMID:Ajami 2013:24301756}, {DOI:Ajami 2013:10.4238/2013.October.24.7}" "" "IVS10+155T>C, IVS10+156T>G" "" "Unknown" "" "" "0" "" "" "g.102844180_102844181delinsCG" "" "likely benign" "" "0000048963" "1" "30" "12" "103237750" "103237750" "subst" "0" "00006" "PAH_000013" "g.103237750C>G" "" "{PMID:Ajami 2013:24301756}, {DOI:Ajami 2013:10.4238/2013.October.24.7}" "" "IVS10-193G>C" "" "Unknown" "?" "" "0" "" "" "g.102843972C>G" "" "likely benign" "" "0000048964" "0" "10" "12" "103237468" "103237468" "=" "0.861674" "00006" "PAH_000014" "g.103237468G>C" "" "{PMID:Ajami 2013:24301756}, {DOI:Ajami 2013:10.4238/2013.October.24.7}" "" "L385L" "" "Unknown" "?" "" "0" "" "" "g.102843690G>C" "" "benign" "" "0000248234" "0" "10" "12" "103306550" "103306550" "subst" "0.201502" "02325" "PAH_000130" "g.103306550A>G" "" "" "" "PAH(NM_000277.3):c.168+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102912772A>G" "" "benign" "" "0000248285" "0" "70" "12" "103246701" "103246701" "subst" "0.000500041" "02325" "PAH_000084" "g.103246701A>G" "" "" "" "PAH(NM_000277.3):c.734T>C (p.V245A), PAH(NM_001354304.1):c.734T>C (p.V245A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852923A>G" "" "likely pathogenic" "" "0000249162" "0" "10" "12" "103307583" "103307583" "subst" "0" "02325" "PAH_000138" "g.103307583A>G" "" "" "" "PAH(NM_000277.3):c.61-907T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102913805A>G" "" "benign" "" "0000250937" "0" "10" "12" "103306550" "103306550" "subst" "0.201502" "02326" "PAH_000130" "g.103306550A>G" "" "" "" "PAH(NM_000277.3):c.168+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102912772A>G" "" "benign" "" "0000252458" "0" "90" "12" "103246701" "103246701" "subst" "0.000500041" "02326" "PAH_000084" "g.103246701A>G" "" "" "" "PAH(NM_000277.3):c.734T>C (p.V245A), PAH(NM_001354304.1):c.734T>C (p.V245A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852923A>G" "" "pathogenic" "" "0000252474" "0" "90" "12" "103248971" "103248971" "subst" "0" "02326" "PAH_000100" "g.103248971A>C" "" "" "" "PAH(NM_000277.3):c.649T>G (p.C217G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855193A>C" "" "pathogenic" "" "0000252497" "0" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "02326" "PAH_000063" "g.103245481A>C" "" "" "" "PAH(NM_000277.3):c.896T>G (p.F299C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic" "" "0000252498" "0" "90" "12" "103238187" "103238187" "subst" "0" "02326" "PAH_000051" "g.103238187A>C" "" "" "" "PAH(NM_000277.3):c.992T>G (p.F331C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844409A>C" "" "pathogenic" "" "0000252499" "0" "90" "12" "103234265" "103234265" "subst" "0" "02326" "PAH_000024" "g.103234265A>G" "" "" "" "PAH(NM_000277.3):c.1228T>C (p.F410L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840487A>G" "" "pathogenic" "" "0000252514" "0" "90" "12" "103249099" "103249099" "subst" "0" "02326" "PAH_000111" "g.103249099A>G" "" "" "" "PAH(NM_000277.3):c.521T>C (p.I174T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855321A>G" "" "pathogenic" "" "0000252522" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "02326" "PAH_000145" "g.103288671A>G" "" "" "" "PAH(NM_000277.3):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic" "" "0000252537" "0" "90" "12" "103246692" "103246692" "subst" "0" "02326" "PAH_000082" "g.103246692A>G" "" "" "" "PAH(NM_000277.3):c.743T>C (p.L248P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852914A>G" "" "pathogenic" "" "0000252542" "0" "90" "12" "103240710" "103240710" "subst" "2.03212E-5" "02326" "PAH_000058" "g.103240710A>G" "" "" "" "PAH(NM_000277.3):c.932T>C (p.L311P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846932A>G" "" "pathogenic" "" "0000252544" "0" "90" "12" "103306594" "103306594" "subst" "0.000117804" "02326" "PAH_000136" "g.103306594A>G" "" "" "" "PAH(NM_000277.3):c.143T>C (p.(Leu48Ser), p.L48S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic" "" "0000252551" "0" "90" "12" "103288572" "103288572" "subst" "2.03075E-5" "02326" "PAH_000126" "g.103288572A>G" "" "" "" "PAH(NM_000277.3):c.293T>C (p.L98S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894794A>G" "" "pathogenic" "" "0000252572" "0" "90" "12" "103248929" "103248929" "subst" "0" "02326" "PAH_000097" "g.103248929A>G" "" "" "" "PAH(NM_000277.3):c.691T>C (p.S231P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855151A>G" "" "pathogenic" "" "0000252573" "0" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "02326" "PAH_000044" "g.103238134A>G" "" "" "" "PAH(NM_000277.3):c.1045T>C (p.S349P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic" "" "0000252583" "0" "90" "12" "103249051" "103249051" "subst" "0" "02326" "PAH_000104" "g.103249051A>G" "" "" "" "PAH(NM_000277.3):c.569T>C (p.V190A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855273A>G" "" "pathogenic" "" "0000252595" "0" "90" "12" "103246606" "103246606" "subst" "1.62522E-5" "02326" "PAH_000073" "g.103246606A>C" "" "" "" "PAH(NM_000277.3):c.829T>G (p.Y277D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852828A>C" "" "pathogenic" "" "0000252625" "0" "90" "12" "103245539" "103245539" "subst" "0" "02326" "PAH_000066" "g.103245539A>G" "" "" "" "PAH(NM_000277.3):c.843-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102851761A>G" "" "pathogenic" "" "0000252688" "0" "50" "12" "103249099" "103249099" "subst" "4.06732E-6" "02326" "PAH_000112" "g.103249099A>T" "" "" "" "PAH(NM_000277.3):c.521T>A (p.I174N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855321A>T" "" "VUS" "" "0000255416" "0" "90" "12" "103306595" "103306595" "subst" "0" "01943" "PAH_000137" "g.103306595A>G" "" "" "" "PAH(NM_000277.1):c.142T>C (p.L48=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102912817A>G" "" "pathogenic" "" "0000255523" "0" "90" "12" "103246672" "103246672" "subst" "0" "01943" "PAH_000081" "g.103246672A>G" "" "" "" "PAH(NM_000277.1):c.763T>C (p.L255=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852894A>G" "" "pathogenic" "" "0000296718" "0" "30" "12" "103237504" "103237504" "subst" "0" "02325" "PAH_000035" "g.103237504G>A" "" "" "" "PAH(NM_000277.3):c.1119C>T (p.A373=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843726G>A" "" "likely benign" "" "0000296719" "0" "30" "12" "103237462" "103237462" "subst" "0.000235763" "02325" "PAH_000030" "g.103237462G>A" "" "" "" "PAH(NM_000277.3):c.1161C>T (p.Y387=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843684G>A" "" "likely benign" "" "0000296720" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "02325" "PAH_000027" "g.103234285G>A" "" "" "" "PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic" "" "0000296721" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "02325" "PAH_000004" "g.103234252T>C" "" "" "" "PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic" "" "0000296722" "0" "10" "12" "103234251" "103234251" "subst" "0.00748536" "02325" "PAH_000020" "g.103234251G>A" "" "" "" "PAH(NM_000277.3):c.1242C>T (p.Y414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840473G>A" "" "benign" "" "0000296723" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "02325" "PAH_000008" "g.103234177C>T" "" "" "" "PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic" "" "0000296724" "0" "90" "12" "103249059" "103249059" "subst" "8.12803E-6" "02325" "PAH_000105" "g.103249059C>T" "" "" "" "PAH(NM_000277.1):c.561G>A (p.W187*), PAH(NM_000277.3):c.561G>A (p.W187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855281C>T" "" "pathogenic" "" "0000296725" "0" "10" "12" "103246700" "103246700" "subst" "0.289791" "02325" "PAH_000083" "g.103246700C>T" "" "" "" "PAH(NM_000277.3):c.735G>A (p.V245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852922C>T" "" "benign" "" "0000296726" "0" "30" "12" "103246663" "103246663" "subst" "0.000625767" "02325" "PAH_000080" "g.103246663G>A" "" "" "" "PAH(NM_000277.3):c.772C>T (p.L258=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852885G>A" "" "likely benign" "" "0000296727" "0" "30" "12" "103246610" "103246610" "subst" "0" "02325" "PAH_000074" "g.103246610G>A" "" "" "" "PAH(NM_000277.3):c.825C>T (p.P275=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852832G>A" "" "likely benign" "" "0000296728" "0" "30" "12" "103246598" "103246598" "subst" "0.000178828" "02325" "PAH_000071" "g.103246598G>A" "" "" "" "PAH(NM_000277.3):c.837C>T (p.P279=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852820G>A" "" "likely benign" "" "0000300538" "0" "90" "12" "103238151" "103238151" "subst" "0" "02326" "PAH_000050" "g.103238151T>C" "" "" "" "PAH(NM_000277.3):c.1028A>G (p.Y343C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844373T>C" "" "pathogenic" "" "0000300539" "0" "90" "12" "103238149" "103238149" "subst" "0" "02326" "PAH_000049" "g.103238149C>T" "" "" "" "PAH(NM_000277.3):c.1030G>A (p.G344S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844371C>T" "" "pathogenic" "" "0000300540" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "02326" "PAH_000046" "g.103238137G>C" "" "" "" "PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic" "" "0000300542" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "02326" "PAH_000039" "g.103237568C>T" "" "" "" "PAH(NM_000277.3):c.1066-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic" "" "0000300543" "0" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "02326" "PAH_000038" "g.103237560G>A" "" "" "" "PAH(NM_000277.3):c.1066-3C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic" "" "0000300544" "0" "50" "12" "103237520" "103237520" "subst" "0" "02326" "PAH_000037" "g.103237520T>C" "" "" "" "PAH(NM_000277.3):c.1103A>G (p.E368G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843742T>C" "" "VUS" "" "0000300545" "0" "90" "12" "103237509" "103237509" "subst" "4.06382E-6" "02326" "PAH_000036" "g.103237509T>A" "" "" "" "PAH(NM_000277.3):c.1114A>T (p.T372S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843731T>A" "" "pathogenic" "" "0000300546" "0" "90" "12" "103237484" "103237484" "subst" "0.000422716" "02326" "PAH_000033" "g.103237484G>A" "" "" "" "PAH(NM_000277.1):c.1139C>T (p.T380M), PAH(NM_000277.3):c.1139C>T (p.(Thr380Met), p.T380M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843706G>A" "" "pathogenic" "" "0000300548" "0" "10" "12" "103237425" "103237425" "subst" "4.06392E-6" "02326" "PAH_000029" "g.103237425T>G" "" "" "" "PAH(NM_000277.3):c.1198A>C (p.R400=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843647T>G" "" "benign" "" "0000300549" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "02326" "PAH_000027" "g.103234285G>A" "" "" "" "PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic" "" "0000300550" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "02326" "PAH_000010" "g.103234271G>A" "" "" "" "PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic" "" "0000300551" "0" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "02326" "PAH_000005" "g.103234270C>T" "" "" "" "PAH(NM_000277.3):c.1223G>A (p.R408Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic" "" "0000300552" "0" "50" "12" "103234255" "103234255" "subst" "4.06147E-6" "02326" "PAH_000023" "g.103234255C>G" "" "" "" "PAH(NM_000277.3):c.1238G>C (p.R413P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840477C>G" "" "VUS" "" "0000300553" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "02326" "PAH_000004" "g.103234252T>C" "" "" "" "PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic" "" "0000300554" "0" "90" "12" "103234249" "103234249" "subst" "0" "02326" "PAH_000019" "g.103234249T>G" "" "" "" "PAH(NM_000277.3):c.1244A>C (p.D415A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840471T>G" "" "pathogenic" "" "0000300555" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "02326" "PAH_000008" "g.103234177C>T" "" "" "" "PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic" "" "0000300556" "0" "90" "12" "103232994" "103232994" "subst" "0" "02326" "PAH_000016" "g.103232994C>A" "" "" "" "PAH(NM_000277.3):c.1318G>T (p.E440*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102839216C>A" "" "pathogenic" "" "0000300557" "0" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "02326" "PAH_000132" "g.103306564C>G" "" "" "" "PAH(NM_000277.3):c.168+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic" "" "0000300558" "0" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "02326" "PAH_000128" "g.103288661T>A" "" "" "" "PAH(NM_000277.3):c.204A>T (p.R68S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic" "" "0000300559" "0" "90" "12" "103288642" "103288642" "subst" "2.0314E-5" "02326" "PAH_000127" "g.103288642C>T" "" "" "" "PAH(NM_000277.3):c.223G>A (p.D75N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894864C>T" "" "pathogenic" "" "0000300560" "0" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "02326" "PAH_000123" "g.103288554G>T" "" "" "" "PAH(NM_000277.3):c.311C>A (p.(Ala104Asp), p.A104D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894776G>T" "" "pathogenic" "" "0000300561" "0" "90" "12" "103288545" "103288545" "subst" "0" "02326" "PAH_000122" "g.103288545T>G" "" "" "" "PAH(NM_000277.3):c.320A>C (p.H107P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894767T>G" "" "pathogenic" "" "0000300562" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "02326" "PAH_000121" "g.103288534G>A" "" "" "" "PAH(NM_000277.3):c.331C>T (p.R111*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic" "" "0000300563" "0" "90" "12" "103271326" "103271326" "subst" "0.000288475" "02326" "PAH_000119" "g.103271326G>A" "" "" "" "PAH(NM_000277.3):c.355C>T (p.P119S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102877548G>A" "" "pathogenic" "" "0000300564" "0" "90" "12" "103271239" "103271239" "subst" "4.06085E-6" "02326" "PAH_000009" "g.103271239C>T" "" "" "" "PAH(NM_000277.3):c.441+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102877461C>T" "" "pathogenic" "" "0000300565" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "02326" "PAH_000115" "g.103260410C>T" "" "" "" "PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic" "" "0000300566" "0" "50" "12" "103260378" "103260378" "subst" "0" "02326" "PAH_000114" "g.103260378G>C" "" "" "" "PAH(NM_000277.3):c.505C>G (p.R169G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866600G>C" "" "VUS" "" "0000300567" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "02326" "PAH_000108" "g.103249094G>A" "" "" "" "PAH(NM_000277.1):c.526C>T (p.R176*), PAH(NM_000277.3):c.526C>T (p.R176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic" "" "0000300568" "0" "90" "12" "103249087" "103249087" "subst" "6.50444E-5" "02326" "PAH_000107" "g.103249087T>C" "" "" "" "PAH(NM_000277.1):c.533A>G (p.E178G), PAH(NM_000277.3):c.533A>G (p.E178G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855309T>C" "" "pathogenic" "" "0000300569" "0" "90" "12" "103249059" "103249059" "subst" "8.12803E-6" "02326" "PAH_000105" "g.103249059C>T" "" "" "" "PAH(NM_000277.1):c.561G>A (p.W187*), PAH(NM_000277.3):c.561G>A (p.W187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855281C>T" "" "pathogenic" "" "0000300570" "0" "90" "12" "103249042" "103249042" "subst" "0" "02326" "PAH_000103" "g.103249042G>A" "" "" "" "PAH(NM_000277.3):c.578C>T (p.T193I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855264G>A" "" "pathogenic" "" "0000300571" "0" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "02326" "PAH_000139" "g.103310844C>A" "" "" "" "PAH(NM_000277.3):c.60+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic" "" "0000300572" "0" "90" "12" "103249012" "103249012" "subst" "0" "02326" "PAH_000102" "g.103249012C>T" "" "" "" "PAH(NM_000277.3):c.608G>A (p.C203Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855234C>T" "" "pathogenic" "" "0000300573" "0" "50" "12" "103248989" "103248989" "subst" "2.43809E-5" "02326" "PAH_000101" "g.103248989G>T" "" "" "" "PAH(NM_000277.3):c.631C>A (p.P211T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855211G>T" "" "VUS" "" "0000300574" "0" "90" "12" "103248955" "103248955" "subst" "0" "02326" "PAH_000099" "g.103248955T>C" "" "" "" "PAH(NM_000277.3):c.665A>G (p.D222G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855177T>C" "" "pathogenic" "" "0000300575" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "02326" "PAH_000006" "g.103248932C>T" "" "" "" "PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic" "" "0000300577" "0" "90" "12" "103246723" "103246723" "subst" "0" "02326" "PAH_000093" "g.103246723T>C" "" "" "" "PAH(NM_000277.3):c.712A>G (p.T238A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852945T>C" "" "pathogenic" "" "0000300578" "0" "90" "12" "103246713" "103246713" "subst" "0.000166812" "02326" "PAH_000090" "g.103246713C>T" "" "" "" "PAH(NM_000277.3):c.722G>A (p.R241H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic" "" "0000300579" "0" "90" "12" "103246713" "103246713" "subst" "4.06858E-6" "02326" "PAH_000091" "g.103246713C>A" "" "" "" "PAH(NM_000277.3):c.722G>T (p.R241L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852935C>A" "" "pathogenic" "" "0000300580" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "02326" "PAH_000088" "g.103246708G>A" "" "" "" "PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic" "" "0000300581" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "02326" "PAH_000086" "g.103246707C>T" "" "" "" "PAH(NM_000277.3):c.728G>A (p.R243Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic" "" "0000300582" "0" "90" "12" "103246707" "103246707" "subst" "0" "02326" "PAH_000087" "g.103246707C>A" "" "" "" "PAH(NM_000277.3):c.728G>T (p.R243L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852929C>A" "" "pathogenic" "" "0000300583" "0" "10" "12" "103246700" "103246700" "subst" "0.289791" "02326" "PAH_000083" "g.103246700C>T" "" "" "" "PAH(NM_000277.3):c.735G>A (p.V245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852922C>T" "" "benign" "" "0000300584" "0" "90" "12" "103246680" "103246680" "subst" "8.12889E-6" "02326" "PAH_000007" "g.103246680C>T" "" "" "" "PAH(NM_000277.3):c.755G>A (p.R252Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852902C>T" "" "pathogenic" "" "0000300585" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "02326" "PAH_000076" "g.103246653C>T" "" "" "" "PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic" "" "0000300586" "0" "90" "12" "103246653" "103246653" "subst" "0" "02326" "PAH_000077" "g.103246653C>G" "" "" "" "PAH(NM_000277.3):c.782G>C (p.R261P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852875C>G" "" "pathogenic" "" "0000300587" "0" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "02326" "PAH_000075" "g.103246621C>A" "" "" "" "PAH(NM_000277.3):c.814G>T (p.G272*), PAH(NM_001354304.1):c.814G>T (p.G272*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic" "" "0000300588" "0" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "02326" "PAH_000068" "g.103246592C>T" "" "" "" "PAH(NM_000277.3):c.842+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic" "" "0000300589" "0" "90" "12" "103246588" "103246588" "subst" "8.12922E-6" "02326" "PAH_000067" "g.103246588C>T" "" "" "" "PAH(NM_000277.1):c.842+5G>A, PAH(NM_000277.3):c.842+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852810C>T" "" "pathogenic" "" "0000300590" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "02326" "PAH_000003" "g.103246593G>A" "" "" "" "PAH(NM_000277.3):c.842C>T (p.P281L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic" "" "0000300591" "0" "50" "12" "103245509" "103245509" "subst" "4.06957E-6" "02326" "PAH_000064" "g.103245509G>A" "" "" "" "PAH(NM_000277.3):c.868C>T (p.H290Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102851731G>A" "" "VUS" "" "0000300592" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "02326" "PAH_000061" "g.103245479C>A" "" "" "" "PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic" "" "0000300593" "0" "90" "12" "103240726" "103240726" "subst" "1.21955E-5" "02326" "PAH_000060" "g.103240726T>C" "" "" "" "PAH(NM_000277.3):c.916A>G (p.I306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846948T>C" "" "pathogenic" "" "0000300594" "0" "90" "12" "103240713" "103240713" "subst" "0" "02326" "PAH_000059" "g.103240713G>A" "" "" "" "PAH(NM_000277.3):c.929C>T (p.S310F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846935G>A" "" "pathogenic" "" "0000300595" "0" "90" "12" "103240705" "103240705" "subst" "0" "02326" "PAH_000056" "g.103240705C>T" "" "" "" "PAH(NM_000277.3):c.937G>A (p.(Ala313Thr), p.A313T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846927C>T" "" "pathogenic" "" "0000300596" "0" "90" "12" "103240701" "103240701" "subst" "0" "02326" "PAH_000054" "g.103240701G>T" "" "" "" "PAH(NM_000277.1):c.941C>A (p.P314H), PAH(NM_000277.3):c.941C>A (p.P314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846923G>T" "" "pathogenic" "" "0000304926" "0" "30" "12" "103232935" "103232935" "subst" "0" "01943" "PAH_000015" "g.103232935C>A" "" "" "" "PAH(NM_000277.1):c.*18G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102839157C>A" "" "likely benign" "" "0000304927" "0" "90" "12" "103238138" "103238138" "subst" "0" "01943" "PAH_000047" "g.103238138G>C" "" "" "" "PAH(NM_000277.1):c.1041C>G (p.L347=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844360G>C" "" "pathogenic" "" "0000304928" "0" "90" "12" "103238138" "103238138" "del" "0" "01943" "PAH_000048" "g.103238138del" "" "" "" "PAH(NM_000277.1):c.1042delC (p.L348Cfs*52)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844360del" "" "pathogenic" "" "0000304929" "0" "90" "12" "103238125" "103238125" "del" "0" "01943" "PAH_000002" "g.103238125del" "" "" "" "PAH(NM_000277.1):c.1055delG (p.G352Vfs*48)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844347del" "" "pathogenic" "" "0000304933" "0" "30" "12" "103237496" "103237496" "subst" "0" "01943" "PAH_000034" "g.103237496T>G" "" "" "" "PAH(NM_000277.1):c.1127A>C (p.N376T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843718T>G" "" "likely benign" "" "0000304934" "0" "70" "12" "103237484" "103237484" "subst" "0.000422716" "01943" "PAH_000033" "g.103237484G>A" "" "" "" "PAH(NM_000277.1):c.1139C>T (p.T380M), PAH(NM_000277.3):c.1139C>T (p.(Thr380Met), p.T380M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102843706G>A" "" "likely pathogenic" "" "0000304938" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "01943" "PAH_000010" "g.103234271G>A" "" "" "" "PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic" "" "0000304942" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "01943" "PAH_000008" "g.103234177C>T" "" "" "" "PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic" "" "0000304945" "0" "50" "12" "103306579" "103306579" "subst" "0.00166573" "01943" "PAH_000134" "g.103306579C>T" "" "" "" "PAH(NM_000277.1):c.158G>A (p.R53H), PAH(NM_000277.3):c.158G>A (p.(Arg53His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102912801C>T" "" "VUS" "" "0000304947" "0" "30" "12" "103310879" "103310879" "subst" "0.000637584" "01943" "PAH_000142" "g.103310879G>C" "" "" "" "PAH(NM_000277.3):c.30C>G (p.G10=), PAH(NM_001354304.1):c.30C>G (p.G10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102917101G>C" "" "likely benign" "" "0000304952" "0" "90" "12" "103310865" "103310866" "del" "0" "01943" "PAH_000141" "g.103310865_103310866del" "" "" "" "PAH(NM_000277.1):c.46_47delCT (p.S16*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102917087_102917088del" "" "pathogenic" "" "0000304954" "0" "50" "12" "103260377" "103260377" "subst" "0.000304916" "01943" "PAH_000113" "g.103260377C>T" "" "" "" "PAH(NM_000277.1):c.506G>A (p.R169H), PAH(NM_000277.3):c.506G>A (p.(Arg169His), p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866599C>T" "" "VUS" "" "0000304956" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "01943" "PAH_000108" "g.103249094G>A" "" "" "" "PAH(NM_000277.1):c.526C>T (p.R176*), PAH(NM_000277.3):c.526C>T (p.R176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic" "" "0000304958" "0" "90" "12" "103249060" "103249060" "subst" "0" "01943" "PAH_000106" "g.103249060C>T" "" "" "" "PAH(NM_000277.1):c.560G>A (p.W187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855282C>T" "" "pathogenic" "" "0000304961" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "01943" "PAH_000006" "g.103248932C>T" "" "" "" "PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic" "" "0000304962" "0" "10" "12" "103248925" "103248925" "subst" "0" "01943" "PAH_000096" "g.103248925T>C" "" "" "" "PAH(NM_000277.1):c.695A>G (p.Q232R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855147T>C" "" "benign" "" "0000304964" "0" "90" "12" "103246715" "103246715" "subst" "0" "01943" "PAH_000092" "g.103246715G>A" "" "" "" "PAH(NM_000277.1):c.720C>T (p.F240=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852937G>A" "" "pathogenic" "" "0000304965" "0" "90" "12" "103246709" "103246709" "subst" "4.06759E-6" "01943" "PAH_000089" "g.103246709G>A" "" "" "" "PAH(NM_000277.1):c.726C>T (p.L242=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852931G>A" "" "pathogenic" "" "0000304970" "0" "90" "12" "103246594" "103246594" "subst" "4.06445E-6" "01943" "PAH_000070" "g.103246594G>A" "" "" "" "PAH(NM_000277.1):c.841C>T (p.P281S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852816G>A" "" "pathogenic" "" "0000304972" "0" "30" "12" "103245519" "103245519" "subst" "4.06954E-6" "01943" "PAH_000065" "g.103245519C>T" "" "" "" "PAH(NM_000277.1):c.858G>A (p.E286=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102851741C>T" "" "likely benign" "" "0000304975" "0" "70" "12" "103240702" "103240702" "subst" "8.12869E-6" "01943" "PAH_000055" "g.103240702G>T" "" "" "" "PAH(NM_000277.1):c.940C>A (p.P314T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846924G>T" "" "likely pathogenic" "" "0000304976" "0" "70" "12" "103240701" "103240701" "subst" "0" "01943" "PAH_000054" "g.103240701G>T" "" "" "" "PAH(NM_000277.1):c.941C>A (p.P314H), PAH(NM_000277.3):c.941C>A (p.P314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846923G>T" "" "likely pathogenic" "" "0000304978" "0" "10" "12" "103238328" "103238333" "del" "0" "01943" "PAH_000052" "g.103238328_103238333del" "" "" "" "PAH(NM_000277.1):c.970-117_970-112delTAGACA" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102844550_102844555del" "" "benign" "" "0000336917" "0" "70" "12" "103271235" "103271235" "subst" "2.84252E-5" "02327" "PAH_000144" "g.103271235C>A" "" "" "" "PAH(NM_000277.3):c.441+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102877457C>A" "" "likely pathogenic" "" "0000341050" "0" "10" "12" "103246700" "103246700" "subst" "0.289791" "02327" "PAH_000083" "g.103246700C>T" "" "" "" "PAH(NM_000277.3):c.735G>A (p.V245=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852922C>T" "" "benign" "" "0000342055" "0" "70" "12" "103260377" "103260377" "subst" "0.000304916" "02327" "PAH_000113" "g.103260377C>T" "" "" "" "PAH(NM_000277.1):c.506G>A (p.R169H), PAH(NM_000277.3):c.506G>A (p.(Arg169His), p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102866599C>T" "" "likely pathogenic" "" "0000342451" "0" "90" "12" "103246653" "103246653" "subst" "0" "02327" "PAH_000077" "g.103246653C>G" "" "" "" "PAH(NM_000277.3):c.782G>C (p.R261P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102852875C>G" "" "pathogenic" "" "0000348926" "0" "70" "12" "103240714" "103240714" "subst" "0" "02327" "PAH_000143" "g.103240714A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102846936A>G" "" "likely pathogenic" "" "0000349724" "0" "90" "12" "103249059" "103249059" "subst" "8.12803E-6" "02327" "PAH_000105" "g.103249059C>T" "" "" "" "PAH(NM_000277.1):c.561G>A (p.W187*), PAH(NM_000277.3):c.561G>A (p.W187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.102855281C>T" "" "pathogenic" "" "0000405796" "11" "90" "12" "103306579" "103306579" "subst" "0.00166573" "02568" "PAH_000134" "g.103306579C>T" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic" "" "0000405797" "21" "90" "12" "103249009" "103249030" "del" "0" "02568" "PAH_000146" "g.103249009_103249030del" "" "" "" "592_613delTATAAAACCCATGCTTGCTATG" "" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic" "" "0000405798" "11" "90" "12" "103249109" "103249109" "subst" "0" "02568" "PAH_000147" "g.103249109C>G" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102855331C>G" "" "pathogenic" "" "0000405801" "21" "90" "12" "103246593" "103246593" "subst" "0.000109749" "02568" "PAH_000003" "g.103246593G>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic" "" "0000405835" "21" "90" "12" "103249009" "103249030" "del" "0" "02568" "PAH_000146" "g.103249009_103249030del" "" "" "" "592_613del22" "" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic" "" "0000546233" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "02327" "PAH_000008" "g.103234177C>T" "" "" "" "PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840399C>T" "" "pathogenic" "" "0000546234" "0" "70" "12" "103234250" "103234250" "subst" "0.00010966" "02327" "PAH_000148" "g.103234250C>T" "" "" "" "PAH(NM_000277.3):c.1243G>A (p.(Asp415Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840472C>T" "" "likely pathogenic" "" "0000546235" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "01943" "PAH_000004" "g.103234252T>C" "" "" "" "PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840474T>C" "" "pathogenic" "" "0000546236" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "02327" "PAH_000004" "g.103234252T>C" "" "" "" "PAH(NM_000277.3):c.1241A>G (p.Y414C), PAH(NM_001354304.1):c.1241A>G (p.Y414C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840474T>C" "" "pathogenic" "" "0000546237" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "01804" "PAH_000010" "g.103234271G>A" "" "" "" "PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840493G>A" "" "pathogenic" "" "0000546238" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "02327" "PAH_000010" "g.103234271G>A" "" "" "" "PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840493G>A" "" "pathogenic" "" "0000546239" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "01943" "PAH_000027" "g.103234285G>A" "" "" "" "PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840507G>A" "" "pathogenic" "" "0000546240" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "02329" "PAH_000027" "g.103234285G>A" "" "" "" "PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102840507G>A" "" "pathogenic" "" "0000546241" "0" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "02326" "PAH_000149" "g.103237426T>A" "" "" "" "PAH(NM_000277.3):c.1197A>T (p.V399=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102843648T>A" "" "pathogenic" "" "0000546242" "0" "50" "12" "103237454" "103237454" "subst" "0.00010972" "02326" "PAH_000150" "g.103237454T>C" "" "" "" "PAH(NM_000277.3):c.1169A>G (p.E390G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102843676T>C" "" "VUS" "" "0000546243" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "02327" "PAH_000039" "g.103237568C>T" "" "" "" "PAH(NM_000277.3):c.1066-11G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102843790C>T" "" "pathogenic" "" "0000546244" "0" "10" "12" "103238017" "103238017" "subst" "0" "02327" "PAH_000151" "g.103238017C>T" "" "" "" "PAH(NM_000277.3):c.1065+97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102844239C>T" "" "benign" "" "0000546245" "0" "90" "12" "103238122" "103238123" "ins" "0" "02326" "PAH_000152" "g.103238122_103238123insTGAC" "" "" "" "PAH(NM_000277.3):c.1057_1058insTCAG (p.E353Vfs*42)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102844344_102844345insTGAC" "" "pathogenic" "" "0000546246" "0" "10" "12" "103240630" "103240630" "subst" "0.353326" "02327" "PAH_000153" "g.103240630C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102846852C>A" "" "benign" "" "0000546247" "0" "70" "12" "103240705" "103240705" "subst" "0" "02327" "PAH_000056" "g.103240705C>T" "" "" "" "PAH(NM_000277.3):c.937G>A (p.(Ala313Thr), p.A313T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102846927C>T" "" "likely pathogenic" "" "0000546249" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "02325" "PAH_000061" "g.103245479C>A" "" "" "" "PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102851701C>A" "" "pathogenic" "" "0000546250" "0" "30" "12" "103245501" "103245501" "subst" "0" "01943" "PAH_000155" "g.103245501G>T" "" "" "" "PAH(NM_000277.1):c.876C>A (p.P292=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102851723G>T" "" "likely benign" "" "0000546251" "0" "30" "12" "103245502" "103245502" "subst" "0" "01943" "PAH_000156" "g.103245502G>T" "" "" "" "PAH(NM_000277.1):c.875C>A (p.P292H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102851724G>T" "" "likely benign" "" "0000546252" "0" "90" "12" "103246588" "103246588" "subst" "8.12922E-6" "01943" "PAH_000067" "g.103246588C>T" "" "" "" "PAH(NM_000277.1):c.842+5G>A, PAH(NM_000277.3):c.842+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852810C>T" "" "pathogenic" "" "0000546253" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "02326" "PAH_000157" "g.103246597C>T" "" "" "" "PAH(NM_000277.3):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852819C>T" "" "pathogenic" "" "0000546254" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "02329" "PAH_000157" "g.103246597C>T" "" "" "" "PAH(NM_000277.3):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852819C>T" "" "pathogenic" "" "0000546255" "0" "30" "12" "103246615" "103246615" "subst" "0.00119858" "01804" "PAH_000158" "g.103246615T>C" "" "" "" "PAH(NM_000277.1):c.820A>G (p.(Lys274Glu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852837T>C" "" "likely benign" "" "0000546256" "0" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "02325" "PAH_000075" "g.103246621C>A" "" "" "" "PAH(NM_000277.3):c.814G>T (p.G272*), PAH(NM_001354304.1):c.814G>T (p.G272*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852843C>A" "" "pathogenic" "" "0000546257" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "02327" "PAH_000076" "g.103246653C>T" "" "" "" "PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852875C>T" "" "pathogenic" "" "0000546258" "0" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "02326" "PAH_000159" "g.103246654G>A" "" "" "" "PAH(NM_000277.3):c.781C>T (p.R261*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852876G>A" "" "pathogenic" "" "0000546259" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "01943" "PAH_000088" "g.103246708G>A" "" "" "" "PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852930G>A" "" "pathogenic" "" "0000546260" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "02326" "PAH_000160" "g.103246714G>A" "" "" "" "PAH(NM_000277.3):c.721C>T (p.R241C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852936G>A" "" "pathogenic" "" "0000546261" "0" "90" "12" "103248928" "103248928" "subst" "0" "02326" "PAH_000161" "g.103248928G>A" "" "" "" "PAH(NM_000277.3):c.692C>T (p.S231F)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102855150G>A" "" "pathogenic" "" "0000546262" "0" "70" "12" "103248932" "103248932" "subst" "0.000552693" "01804" "PAH_000006" "g.103248932C>T" "" "" "" "PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102855154C>T" "" "likely pathogenic" "" "0000546263" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "02325" "PAH_000006" "g.103248932C>T" "" "" "" "PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102855154C>T" "" "pathogenic" "" "0000546264" "0" "90" "12" "103249059" "103249059" "subst" "8.12803E-6" "01943" "PAH_000105" "g.103249059C>T" "" "" "" "PAH(NM_000277.1):c.561G>A (p.W187*), PAH(NM_000277.3):c.561G>A (p.W187*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102855281C>T" "" "pathogenic" "" "0000546265" "0" "90" "12" "103249087" "103249087" "subst" "6.50444E-5" "01943" "PAH_000107" "g.103249087T>C" "" "" "" "PAH(NM_000277.1):c.533A>G (p.E178G), PAH(NM_000277.3):c.533A>G (p.E178G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102855309T>C" "" "pathogenic" "" "0000546266" "0" "10" "12" "103260383" "103260383" "subst" "0.00101169" "01943" "PAH_000001" "g.103260383T>C" "" "" "" "PAH(NM_000277.1):c.500A>G (p.N167S), PAH(NM_000277.3):c.500A>G (p.(Asn167Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102866605T>C" "" "benign" "" "0000546267" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "01943" "PAH_000115" "g.103260410C>T" "" "" "" "PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102866632C>T" "" "pathogenic" "" "0000546268" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "02327" "PAH_000115" "g.103260410C>T" "" "" "" "PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102866632C>T" "" "pathogenic" "" "0000546269" "0" "90" "12" "103260446" "103260446" "subst" "2.43942E-5" "02326" "PAH_000162" "g.103260446G>C" "" "" "" "PAH(NM_000277.3):c.442-5C>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102866668G>C" "" "pathogenic" "" "0000546270" "0" "10" "12" "103271350" "103271350" "subst" "0.272972" "02327" "PAH_000163" "g.103271350G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102877572G>A" "" "benign" "" "0000546271" "0" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "02325" "PAH_000123" "g.103288554G>T" "" "" "" "PAH(NM_000277.3):c.311C>A (p.(Ala104Asp), p.A104D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102894776G>T" "" "pathogenic" "" "0000546272" "0" "30" "12" "103288566" "103288566" "subst" "0.000324907" "01943" "PAH_000164" "g.103288566T>C" "" "" "" "PAH(NM_000277.1):c.299A>G (p.H100R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102894788T>C" "" "likely benign" "" "0000546273" "0" "30" "12" "103288576" "103288576" "subst" "0.000146214" "01943" "PAH_000165" "g.103288576T>G" "" "" "" "PAH(NM_000277.1):c.289A>C (p.I97L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102894798T>G" "" "likely benign" "" "0000546274" "0" "90" "12" "103288604" "103288604" "subst" "7.71693E-5" "01943" "PAH_000166" "g.103288604G>T" "" "" "" "PAH(NM_000277.1):c.261C>A (p.S87R), PAH(NM_000277.3):c.261C>A (p.S87R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102894826G>T" "" "pathogenic" "" "0000546275" "0" "10" "12" "103306550" "103306550" "subst" "0.201502" "02327" "PAH_000130" "g.103306550A>G" "" "" "" "PAH(NM_000277.3):c.168+19T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102912772A>G" "" "benign" "" "0000546276" "0" "10" "12" "103310787" "103310787" "subst" "0" "02327" "PAH_000167" "g.103310787G>A" "" "" "" "PAH(NM_000277.3):c.60+62C>T, PAH(NM_001354304.2):c.60+62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102917009G>A" "" "benign" "" "0000546277" "0" "10" "12" "103310787" "103310787" "subst" "0" "02326" "PAH_000167" "g.103310787G>A" "" "" "" "PAH(NM_000277.3):c.60+62C>T, PAH(NM_001354304.2):c.60+62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102917009G>A" "" "benign" "" "0000600837" "0" "70" "12" "103306575" "103306575" "subst" "0" "03461" "PAH_000170" "g.103306575T>A" "" "" "" "" "" "Germline" "" "" "0" "" "" "g.102912797T>A" "" "likely pathogenic" "" "0000600838" "0" "70" "12" "103260432" "103260432" "del" "0" "03461" "PAH_000168" "g.103260432del" "" "" "" "451delG" "" "Germline" "" "" "0" "" "" "g.102866654del" "" "likely pathogenic" "" "0000600839" "0" "70" "12" "103246725" "103246741" "del" "0" "03461" "PAH_000169" "g.103246725_103246741del" "" "" "" "707-12_711del17" "" "Germline" "" "" "0" "" "" "g.102852947_102852963del" "" "likely pathogenic" "" "0000613805" "0" "30" "12" "103232983" "103232983" "subst" "0" "01943" "PAH_000171" "g.103232983G>T" "" "" "" "PAH(NM_001354304.1):c.1329C>A (p.I443=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102839205G>T" "" "likely benign" "" "0000613806" "0" "90" "12" "103237454" "103237454" "subst" "0.00010972" "02325" "PAH_000150" "g.103237454T>C" "" "" "" "PAH(NM_000277.3):c.1169A>G (p.E390G)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102843676T>C" "" "pathogenic" "" "0000613807" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "02327" "PAH_000046" "g.103238137G>C" "" "" "" "PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102844359G>C" "" "pathogenic" "" "0000613808" "0" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "02327" "PAH_000068" "g.103246592C>T" "" "" "" "PAH(NM_000277.3):c.842+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852814C>T" "" "pathogenic" "" "0000613809" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "02325" "PAH_000076" "g.103246653C>T" "" "" "" "PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852875C>T" "" "pathogenic" "" "0000613810" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "02327" "PAH_000160" "g.103246714G>A" "" "" "" "PAH(NM_000277.3):c.721C>T (p.R241C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852936G>A" "" "pathogenic" "" "0000613811" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "02327" "PAH_000121" "g.103288534G>A" "" "" "" "PAH(NM_000277.3):c.331C>T (p.R111*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102894756G>A" "" "pathogenic" "" "0000613812" "0" "30" "12" "103310989" "103310989" "subst" "0" "02327" "PAH_000172" "g.103310989G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102917211G>A" "" "likely benign" "" "0000622766" "0" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "01943" "PAH_000075" "g.103246621C>A" "" "" "" "PAH(NM_000277.3):c.814G>T (p.G272*), PAH(NM_001354304.1):c.814G>T (p.G272*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852843C>A" "" "pathogenic" "" "0000622767" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "02325" "PAH_000145" "g.103288671A>G" "" "" "" "PAH(NM_000277.3):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102894893A>G" "" "pathogenic" "" "0000648429" "1" "10" "12" "103233031" "103233031" "subst" "0.0160816" "03575" "PAH_000173" "g.103233031G>A" "85/2794 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "85 heterozygous, no homozygous; {DB:CLININrs62509021}" "Germline" "" "rs62509021" "0" "" "" "g.102839253G>A" "" "benign" "" "0000648430" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "03575" "PAH_000005" "g.103234270C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs5030859}" "Germline" "" "rs5030859" "0" "" "" "g.102840492C>T" "" "pathogenic" "" "0000648431" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "03575" "PAH_000010" "g.103234271G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs5030858}" "Germline" "" "rs5030858" "0" "" "" "g.102840493G>A" "" "pathogenic" "" "0000648432" "1" "90" "12" "103237484" "103237484" "subst" "0.000422716" "03575" "PAH_000033" "g.103237484G>A" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs62642937}" "Germline" "" "rs62642937" "0" "" "" "g.102843706G>A" "" "pathogenic" "" "0000648433" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "03575" "PAH_000039" "g.103237568C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs5030855}" "Germline" "" "rs5030855" "0" "" "" "g.102843790C>T" "" "pathogenic" "" "0000648434" "1" "90" "12" "103245479" "103245479" "subst" "0.000565565" "03575" "PAH_000061" "g.103245479C>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs5030853}" "Germline" "" "rs5030853" "0" "" "" "g.102851701C>A" "" "pathogenic" "" "0000648435" "1" "90" "12" "103245487" "103245487" "subst" "8.13696E-6" "03575" "PAH_000174" "g.103245487C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62642939}" "Germline" "" "rs62642939" "0" "" "" "g.102851709C>T" "" "pathogenic" "" "0000648436" "1" "70" "12" "103246659" "103246659" "subst" "8.12671E-6" "03575" "PAH_000175" "g.103246659G>A" "0/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 homozygous; {DB:CLININrs118203921}" "Germline" "" "rs118203921" "0" "" "" "g.102852881G>A" "" "likely pathogenic" "" "0000648437" "1" "70" "12" "103248932" "103248932" "subst" "0.000552693" "03575" "PAH_000006" "g.103248932C>T" "3/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "3 heterozygous, no homozygous; {DB:CLININrs62516152}" "Germline" "" "rs62516152" "0" "" "" "g.102855154C>T" "" "likely pathogenic" "" "0000648438" "1" "70" "12" "103271296" "103271296" "subst" "0" "03575" "PAH_000176" "g.103271296C>A" "2/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "2 heterozygous, no homozygous; {DB:CLININrs199475606}" "Germline" "" "rs199475606" "0" "" "" "g.102877518C>A" "" "likely pathogenic" "" "0000648439" "1" "70" "12" "103288604" "103288604" "subst" "7.71693E-5" "03575" "PAH_000166" "g.103288604G>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62516151}" "Germline" "" "rs62516151" "0" "" "" "g.102894826G>T" "" "likely pathogenic" "" "0000648440" "1" "50" "12" "103288653" "103288653" "subst" "0" "03575" "PAH_000177" "g.103288653C>T" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; {DB:CLININrs62508695}" "Germline" "" "rs62508695" "0" "" "" "g.102894875C>T" "" "VUS" "" "0000648441" "1" "50" "12" "103306579" "103306579" "subst" "0.00166573" "03575" "PAH_000134" "g.103306579C>T" "13/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "13 heterozygous, no homozygous; {DB:CLININrs118092776}" "Germline" "" "rs118092776" "0" "" "" "g.102912801C>T" "" "VUS" "" "0000648442" "1" "90" "12" "103310908" "103310908" "subst" "8.12216E-6" "03575" "PAH_000178" "g.103310908T>C" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "1 heterozygous, no homozygous; {DB:CLININrs62514891}" "Germline" "" "rs62514891" "0" "" "" "g.102917130T>C" "" "pathogenic" "" "0000656966" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "02327" "PAH_000088" "g.103246708G>A" "" "" "" "PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.102852930G>A" "" "pathogenic" "" "0000669144" "3" "70" "12" "103246659" "103246659" "subst" "8.12671E-6" "03575" "PAH_000175" "g.103246659G>A" "1/2795 individuals" "{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}" "" "" "no heterozygous ; {DB:CLININrs118203921}" "Germline" "" "rs118203921" "0" "" "" "g.102852881G>A" "" "likely pathogenic" "" "0000679380" "0" "50" "12" "103237442" "103237442" "subst" "0" "01943" "PAH_000179" "g.103237442T>G" "" "" "" "PAH(NM_001354304.1):c.1181A>C (p.D394A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000679381" "0" "70" "12" "103246701" "103246701" "subst" "0.000500041" "01943" "PAH_000084" "g.103246701A>G" "" "" "" "PAH(NM_000277.3):c.734T>C (p.V245A), PAH(NM_001354304.1):c.734T>C (p.V245A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000683333" "3" "70" "12" "103245464" "103245464" "subst" "1.2208E-5" "00006" "PAH_000180" "g.103245464C>T" "" "{PMID:Grozeva 2015:26350204}, {DOI:Grozeva 2015:10.1002/humu.22901}" "" "" "" "Germline/De novo (untested)" "" "rs62514956" "0" "" "" "g.102851686C>T" "" "likely pathogenic (recessive)" "" "0000686140" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686141" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686142" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686143" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686145" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686148" "1" "90" "12" "103306620" "103306620" "subst" "9.7492E-5" "00006" "PAH_000182" "g.103306620G>C" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686149" "3" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686169" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686170" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686172" "2" "90" "12" "103288579" "103288581" "del" "2.0307E-5" "00006" "PAH_000181" "g.103288579_103288581del" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686173" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686174" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000686176" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Roman 2020:32853555}, {DOI:Roman 2020:10.1016/j.ajhg.2020.08.001}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000691227" "0" "30" "12" "103246590" "103246590" "subst" "0" "01943" "PAH_000183" "g.103246590C>T" "" "" "" "PAH(NM_001354304.1):c.842+3G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000691228" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "01943" "PAH_000076" "g.103246653C>T" "" "" "" "PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000691229" "0" "90" "12" "103288604" "103288604" "subst" "7.71693E-5" "02325" "PAH_000166" "g.103288604G>T" "" "" "" "PAH(NM_000277.1):c.261C>A (p.S87R), PAH(NM_000277.3):c.261C>A (p.S87R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000712808" "3" "50" "12" "103234285" "103234285" "subst" "0.000601171" "00000" "PAH_000027" "g.103234285G>A" "" "{PMID:Beck 2014:25044745}" "" "" "" "Germline" "" "rs5030857" "0" "" "" "g.102840507G>A" "" "VUS" "" "0000723793" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "02329" "PAH_000008" "g.103234177C>T" "" "" "" "PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000723794" "0" "70" "12" "103237479" "103237479" "subst" "0" "02327" "PAH_000184" "g.103237479A>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000805496" "0" "30" "12" "103240734" "103240734" "subst" "8.13134E-6" "02327" "PAH_000154" "g.103240734A>G" "" "" "" "PAH(NM_000277.3):c.913-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000805497" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "02327" "PAH_000157" "g.103246597C>T" "" "" "" "PAH(NM_000277.3):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000829040" "0" "50" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Razaq 2021:34869784}" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "" "" "VUS" "" "0000836770" "11" "70" "12" "103288671" "103288671" "subst" "0.000256141" "02494" "PAH_000145" "g.103288671A>G" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000836771" "21" "70" "12" "103234177" "103234177" "subst" "0.000389946" "02494" "PAH_000008" "g.103234177C>T" "" "" "" "" "" "Germline" "" "" "" "" "" "" "" "likely pathogenic (recessive)" "" "0000837203" "21" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000186" "g.103237424C>T" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843646C>T" "" "pathogenic (recessive)" "" "0000837204" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000837205" "1" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "" "0000837206" "1" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000837207" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000837208" "1" "90" "12" "103248926" "103248926" "subst" "4.06402E-6" "00006" "PAH_000190" "g.103248926G>A" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "" "" "0" "" "" "g.102855148G>A" "" "pathogenic (recessive)" "" "0000837209" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Jin 2021:34747549}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000837210" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Jin 2021:34747549}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000837211" "1" "90" "12" "103246591" "103246591" "subst" "0" "00006" "PAH_000188" "g.103246591A>T" "" "{PMID:Jin 2021:34747549}" "" "IVS7+2T>A" "" "Germline" "" "" "0" "" "" "g.102852813A>T" "" "pathogenic (recessive)" "" "0000837212" "11" "90" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Jin 2021:34747549}" "" "" "variant creates branch point activating pseudo exon" "Germline" "" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "" "0000837213" "2" "90" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Jin 2021:34747549}" "" "" "variant creates branch point activating pseudo exon" "Germline" "" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "" "0000837214" "2" "90" "12" "103237873" "103237873" "subst" "0" "00006" "PAH_000187" "g.103237873G>T" "" "{PMID:Jin 2021:34747549}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant strengthens ESE activating pseudo exon inclusion" "Germline" "" "" "0" "" "" "g.102844095G>T" "" "pathogenic (recessive)" "" "0000837215" "2" "90" "12" "103248546" "103248546" "subst" "0" "00006" "PAH_000189" "g.103248546A>G" "" "{PMID:Jin 2021:34747549}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant strengthens ESE activating pseudo exon inclusion" "Germline" "" "" "0" "" "" "g.102854768A>G" "" "pathogenic (recessive)" "" "0000837216" "2" "90" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Jin 2021:34747549}" "" "" "variant creates branch point activating pseudo exon" "Germline" "" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "" "0000837217" "2" "90" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Jin 2021:34747549}" "" "" "variant creates branch point activating pseudo exon" "Germline" "" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "" "0000837218" "2" "90" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Jin 2021:34747549}" "" "" "variant creates branch point activating pseudo exon" "Germline" "" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "" "0000837219" "2" "90" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Jin 2021:34747549}" "" "" "variant creates branch point activating pseudo exon" "Germline" "" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "" "0000843743" "1" "90" "12" "103310889" "103310889" "del" "0" "04289" "PAH_000192" "g.103310889del" "1/142 patients" "" "" "" "" "Unknown" "" "" "0" "" "" "g.102917111del" "" "pathogenic (recessive)" "ACMG" "0000843744" "3" "90" "12" "103248994" "103248995" "ins" "0" "04289" "PAH_000194" "g.103248994_103248995insG" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "625_626insC" "" "Germline" "" "" "0" "" "" "g.102855216_102855217insG" "" "pathogenic (recessive)" "ACMG" "0000843745" "1" "70" "12" "103234174" "103234175" "ins" "0" "04289" "PAH_000195" "g.103234174_103234175insGTTACACCT" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840396_102840397insGTTACACCT" "" "likely pathogenic (recessive)" "ACMG" "0000843881" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "04289" "PAH_000193" "g.103237461C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000843893" "2" "90" "12" "103246644" "103246644" "subst" "0" "04289" "PAH_000196" "g.103246644T>C" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102852866T>C" "" "pathogenic (recessive)" "" "0000843894" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843895" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843896" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843897" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843898" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843899" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843900" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843901" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843902" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843903" "3" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843904" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843905" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843906" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843907" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843908" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843909" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843910" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843911" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843912" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843913" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843914" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843915" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843916" "1" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "04289" "PAH_000139" "g.103310844C>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000843917" "1" "90" "12" "103260375" "103260375" "subst" "2.0315E-5" "04289" "PAH_000211" "g.103260375G>C" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102866597G>C" "" "pathogenic (recessive)" "" "0000843918" "1" "90" "12" 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{DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic (recessive)" "" "0000844038" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "04289" "PAH_000046" "g.103238137G>C" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000844039" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "04289" "PAH_000148" "g.103234250C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000844040" "2" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "04289" "PAH_000144" "g.103271235C>A" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000844041" "2" "90" "12" "103237466" "103237466" "subst" "2.03216E-5" "04289" "PAH_000200" "g.103237466T>C" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102843688T>C" "" "pathogenic (recessive)" "" "0000844042" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "04289" "PAH_000145" "g.103288671A>G" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000844043" "2" "90" "12" "103288657" "103288659" "del" "0" "04289" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "" "0000844044" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "04289" "PAH_000039" "g.103237568C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 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2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000844094" "2" "90" "12" "103260411" "103260411" "subst" "2.84416E-5" "04289" "PAH_000212" "g.103260411G>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102866633G>A" "" "pathogenic (recessive)" "" "0000844095" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "04289" "PAH_000193" "g.103237461C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000844096" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "04289" "PAH_000148" "g.103234250C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000844097" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "04289" "PAH_000193" "g.103237461C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000844098" "2" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "04289" "PAH_000207" "g.103246626C>T" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000844099" "2" "90" "12" "103240667" "103240667" "subst" "0" "04289" "PAH_000203" "g.103240667A>G" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102846889A>G" "" "pathogenic (recessive)" "" "0000844100" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "04289" "PAH_000039" "g.103237568C>T" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000844101" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "04289" "PAH_000208" "g.103246681G>A" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000844102" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "04289" "PAH_000044" "g.103238134A>G" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000844103" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "04289" "PAH_000039" "g.103237568C>T" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000844104" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "04289" "PAH_000148" "g.103234250C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000844105" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "04289" "PAH_000008" "g.103234177C>T" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000844106" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "04289" "PAH_000008" "g.103234177C>T" "" "{PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000844107" "2" "90" "12" "103260375" "103260375" "subst" "2.0315E-5" "04289" "PAH_000211" "g.103260375G>C" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102866597G>C" "" "pathogenic (recessive)" "" "0000844108" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "04289" "PAH_000193" "g.103237461C>T" "" "{PMID:Vela-Amieva 2015:24941924}, {DOI:Vela-Amieva 2015:10.1111/cge.12444}, {PMID:Vela-Amieva 2021:34828281}, {DOI:Vela-Amieva 2021:10.3390/genes12111676}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000853231" "0" "70" "12" "103288671" "103288671" "subst" "0.000256141" "02327" "PAH_000145" "g.103288671A>G" "" "" "" "PAH(NM_000277.3):c.194T>C (p.I65T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000862775" "0" "10" "12" "103234251" "103234251" "subst" "0.00748536" "02326" "PAH_000020" "g.103234251G>A" "" "" "" "PAH(NM_000277.3):c.1242C>T (p.Y414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000862776" "0" "50" "12" "103237436" "103237436" "subst" "4.06388E-6" "01943" "PAH_000218" "g.103237436T>C" "" "" "" "PAH(NM_001354304.1):c.1187A>G (p.K396R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000862777" "0" "30" "12" "103249011" "103249011" "subst" "0.00056072" "01943" "PAH_000219" "g.103249011G>A" "" "" "" "PAH(NM_001354304.1):c.609C>T (p.C203=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000881371" "11" "90" "12" "103246593" "103246593" "subst" "0.000109749" "02300" "PAH_000003" "g.103246593G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PVS1, PM1, PM2, PM5, PP2, PP3, PP5" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "ACMG" "0000881372" "21" "90" "12" "103234271" "103234271" "subst" "0.000775748" "02300" "PAH_000010" "g.103234271G>A" "" "{PMID:Marinakis 2021:34008892}" "" "" "ACMG PM1, PM2, PM5, PP2, PP3, PP5" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "ACMG" "0000881973" "0" "70" "12" "103238146" "103238146" "subst" "0" "04409" "PAH_000228" "g.103238146C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000881974" "0" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844095G>T" "" "pathogenic (recessive)" "ACMG" "0000881975" "21" "90" "12" "103234243" "103234243" "subst" "4.06124E-6" "04409" "PAH_000222" "g.103234243T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881976" "11" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881977" "21" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "04409" "PAH_000226" "g.103237555G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881978" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000881979" "11" "90" "12" "103245473" "103245473" "del" "0" "04409" "PAH_000231" "g.103245473del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102851695del" "" "pathogenic (recessive)" "ACMG" "0000881980" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000881981" "21" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881982" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000881983" "21" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "04409" "PAH_000241" "g.103249009T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881984" "11" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881985" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881986" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881987" "11" "90" "12" "103246665" "103246665" "subst" "0" "04409" "PAH_000232" "g.103246665C>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881988" "0" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000881989" "21" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "04409" "PAH_000149" "g.103237426T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881990" "0" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844095G>T" "" "pathogenic (recessive)" "ACMG" "0000881991" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline/De novo (untested)" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881992" "21" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000881993" "11" "90" "12" "103288657" "103288659" "del" "0" "04409" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "ACMG" "0000881994" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000881995" "0" "90" "12" "103288657" "103288659" "del" "0" "04409" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "ACMG" "0000881996" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000881997" "11" "90" "12" "103246695" "103246695" "subst" "0" "04409" "PAH_000234" "g.103246695C>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881998" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000881999" "21" "90" "12" "103260442" "103260442" "subst" "0" "04409" "PAH_000244" "g.103260442C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882000" "11" "90" "12" "103248383" "103248383" "subst" "0" "04409" "PAH_000239" "g.103248383A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice acceptor site" "Germline" "yes" "" "0" "" "" "g.102854605A>G" "" "pathogenic (recessive)" "ACMG" "0000882001" "21" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "04409" "PAH_000226" "g.103237555G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882002" "11" "90" "12" "103248383" "103248383" "subst" "0" "04409" "PAH_000239" "g.103248383A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice acceptor site" "Germline" "yes" "" "0" "" "" "g.102854605A>G" "" "pathogenic (recessive)" "ACMG" "0000882003" "11" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "04409" "PAH_000241" "g.103249009T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882004" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882005" "11" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "04409" "PAH_000241" "g.103249009T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882006" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882007" "21" "90" "12" "103248311" "103248311" "subst" "0" "04409" "PAH_000237" "g.103248311A>C" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice donor site" "Germline" "yes" "" "0" "" "" "g.102854533A>C" "" "pathogenic (recessive)" "ACMG" "0000882008" "11" "70" "12" "103240736" "103240736" "subst" "1.21967E-5" "04409" "PAH_000230" "g.103240736T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882009" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882010" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882029" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882030" "21" "90" "12" "103311087" "103314283" "del" "0" "04409" "PAH_000247" "g.103311087_103314283del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102917309_102920505del" "" "pathogenic (recessive)" "ACMG" "0000882031" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882032" "21" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000882033" "11" "90" "12" "103238204" "103238204" "subst" "4.07531E-6" "04409" "PAH_000229" "g.103238204G>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882034" "21" "90" "12" "103248383" "103248383" "subst" "0" "04409" "PAH_000239" "g.103248383A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice acceptor site" "Germline" "yes" "" "0" "" "" "g.102854605A>G" "" "pathogenic (recessive)" "ACMG" "0000882035" "21" "90" "12" "103246714" "103246714" "subst" "0.000134298" "04409" "PAH_000160" "g.103246714G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882036" "11" "90" "12" "103248306" "103248306" "subst" "0" "04409" "PAH_000236" "g.103248306T>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.102854528T>G" "" "pathogenic (recessive)" "ACMG" "0000882037" "21" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882038" "21" "90" "12" "103234172" "103234172" "subst" "0" "04409" "PAH_000220" "g.103234172A>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882039" "11" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882040" "21" "90" "12" "103288657" "103288659" "del" "0" "04409" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "ACMG" "0000882041" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882042" "21" "90" "12" "103260442" "103260442" "subst" "0" "04409" "PAH_000244" "g.103260442C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882043" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882044" "21" "70" "12" "103288666" "103288666" "subst" "4.06441E-6" "04409" "PAH_000245" "g.103288666A>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882045" "11" "90" "12" "103248383" "103248383" "subst" "0" "04409" "PAH_000239" "g.103248383A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice acceptor site" "Germline" "yes" "" "0" "" "" "g.102854605A>G" "" "pathogenic (recessive)" "ACMG" "0000882046" "11" "90" "12" "103260442" "103260442" "subst" "0" "04409" "PAH_000244" "g.103260442C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882047" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882048" "11" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "04409" "PAH_000241" "g.103249009T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882049" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882050" "11" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "04409" "PAH_000226" "g.103237555G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882051" "21" "90" "12" "103248383" "103248383" "subst" "0" "04409" "PAH_000239" "g.103248383A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice acceptor site" "Germline" "yes" "" "0" "" "" "g.102854605A>G" "" "pathogenic (recessive)" "ACMG" "0000882052" "21" "90" "12" "103246711" "103246711" "subst" "0" "04409" "PAH_000235" "g.103246711G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882053" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882054" "11" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "04409" "PAH_000005" "g.103234270C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882055" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882056" "11" "90" "12" "103246714" "103246714" "subst" "0.000134298" "04409" "PAH_000160" "g.103246714G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882057" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882058" "11" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "04409" "PAH_000005" "g.103234270C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882059" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882060" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882061" "21" "90" "12" "103248383" "103248383" "subst" "0" "04409" "PAH_000239" "g.103248383A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice acceptor site" "Germline" "yes" "" "0" "" "" "g.102854605A>G" "" "pathogenic (recessive)" "ACMG" "0000882062" "11" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "04409" "PAH_000108" "g.103249094G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882063" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882064" "21" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "04409" "PAH_000005" "g.103234270C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882065" "11" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "04409" "PAH_000241" "g.103249009T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882066" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882067" "21" "90" "12" "103237449" "103237449" "subst" "5.6893E-5" "04409" "PAH_000225" "g.103237449A>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882068" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882069" "21" "70" "12" "103249015" "103249015" "subst" "0" "04409" "PAH_000242" "g.103249015G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882070" "11" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882071" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882072" "21" "90" "12" "103246714" "103246714" "subst" "0.000134298" "04409" "PAH_000160" "g.103246714G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882073" "11" "90" "12" "103237424" "103237424" "subst" "0" "04409" "PAH_000224" "g.103237424C>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882074" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882075" "11" "90" "12" "103260442" "103260442" "subst" "0" "04409" "PAH_000244" "g.103260442C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882076" "0" "90" "12" "103311087" "103314283" "del" "0" "04409" "PAH_000247" "g.103311087_103314283del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102917309_102920505del" "" "pathogenic (recessive)" "ACMG" "0000882077" "21" "90" "12" "103234192" "103234192" "subst" "0" "04409" "PAH_000221" "g.103234192G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882078" "11" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000882079" "21" "90" "12" "103248306" "103248306" "subst" "0" "04409" "PAH_000236" "g.103248306T>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.102854528T>G" "" "pathogenic (recessive)" "ACMG" "0000882080" "11" "90" "12" "103246653" "103246653" "subst" "0.000227533" "04409" "PAH_000076" "g.103246653C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882081" "11" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "04409" "PAH_000226" "g.103237555G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882082" "21" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000882083" "11" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "04409" "PAH_000208" "g.103246681G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882084" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882085" "11" "90" "12" "103246671" "103246671" "subst" "0" "04409" "PAH_000233" "g.103246671A>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882086" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882087" "11" "90" "12" "103288657" "103288659" "del" "0" "04409" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "ACMG" "0000882088" "21" "90" "12" "103236679" "103236679" "subst" "0" "04409" "PAH_000223" "g.103236679A>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant creates splice donor site" "Germline" "yes" "" "0" "" "" "g.102842901A>T" "" "pathogenic (recessive)" "ACMG" "0000882090" "21" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "04409" "PAH_000121" "g.103288534G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882091" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882092" "11" "90" "12" "103260419" "103260419" "subst" "2.0316E-5" "04409" "PAH_000243" "g.103260419C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882094" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882095" "21" "90" "12" "103246714" "103246714" "subst" "0.000134298" "04409" "PAH_000160" "g.103246714G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882096" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882099" "21" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882100" "11" "90" "12" "103248314" "103248314" "subst" "0" "04409" "PAH_000238" "g.103248314T>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice donor site" "Germline" "yes" "" "0" "" "" "g.102854536T>G" "" "pathogenic (recessive)" "ACMG" "0000882101" "21" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882102" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882106" "21" "90" "12" "103234271" "103234271" "subst" "0.000775748" "04409" "PAH_000010" "g.103234271G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882107" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882108" "11" "70" "12" "103248971" "103248971" "subst" "0" "04409" "PAH_000240" "g.103248971A>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882109" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882125" "21" "70" "12" "103310906" "103310906" "subst" "0" "04409" "PAH_000249" "g.103310906C>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882126" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882127" "21" "50" "12" "103237570" "103237570" "del" "0" "04409" "PAH_000248" "g.103237570del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843792del" "" "VUS" "ACMG" "0000882128" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882129" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882577" "0" "90" "12" "103238134" "103238134" "subst" "0" "04409" "PAH_000250" "g.103238134A>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882578" "0" "90" "12" "103311087" "103314283" "del" "0" "04409" "PAH_000247" "g.103311087_103314283del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "g.102917309_102920505del" "" "pathogenic (recessive)" "ACMG" "0000882579" "11" "50" "12" "103306579" "103306579" "subst" "0.00166573" "04409" "PAH_000134" "g.103306579C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "VUS" "ACMG" "0000882580" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882581" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882582" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882583" "3" "90" "12" "103311087" "103314283" "del" "0" "04409" "PAH_000247" "g.103311087_103314283del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102917309_102920505del" "" "pathogenic (recessive)" "ACMG" "0000882584" "21" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "04409" "PAH_000157" "g.103246597C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882585" "11" "90" "12" "103248379" "103248379" "subst" "0" "04409" "PAH_000251" "g.103248379C>A" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates splice donor site" "Germline" "yes" "" "0" "" "" "g.102854601C>A" "" "pathogenic (recessive)" "ACMG" "0000882586" "11" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "04409" "PAH_000149" "g.103237426T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882587" "21" "90" "12" "103311087" "103314283" "del" "0" "04409" "PAH_000247" "g.103311087_103314283del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102917309_102920505del" "" "pathogenic (recessive)" "ACMG" "0000882588" "11" "70" "12" "103288614" "103288614" "subst" "0" "04409" "PAH_000252" "g.103288614T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882589" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882590" "11" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "04409" "PAH_000121" "g.103288534G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882591" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882592" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "04409" "PAH_000160" "g.103246714G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882593" "11" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882594" "21" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000882595" "21" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882596" "11" "90" "12" "103248395" "103248395" "subst" "0" "04409" "PAH_000253" "g.103248395A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.102854617A>G" "" "pathogenic (recessive)" "ACMG" "0000882597" "21" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "04409" "PAH_000121" "g.103288534G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882598" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882599" "11" "90" "12" "103260411" "103260411" "subst" "2.84416E-5" "04409" "PAH_000212" "g.103260411G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882600" "21" "90" "12" "103248913" "103249111" "del" "0" "04409" "PAH_000246" "g.(103246729_103248913)_(103249111_103260373)del" "" "{PMID:Luo 2023:36849017}" "" "510_706del" "" "Germline" "yes" "" "0" "" "" "g.(102852951_102855135)_(102855333_102866595)del" "" "pathogenic (recessive)" "ACMG" "0000882601" "21" "90" "12" "103246653" "103246653" "subst" "0.000227533" "04409" "PAH_000076" "g.103246653C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882602" "21" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "04409" "PAH_000121" "g.103288534G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882603" "11" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000882604" "11" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "04409" "PAH_000241" "g.103249009T>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882605" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882606" "11" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "04409" "PAH_000159" "g.103246654G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882607" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882608" "11" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "04409" "PAH_000159" "g.103246654G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882609" "21" "90" "12" "103260442" "103260442" "subst" "0" "04409" "PAH_000244" "g.103260442C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882610" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882611" "21" "70" "12" "103240705" "103240705" "subst" "0" "04409" "PAH_000254" "g.103240705C>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "likely pathogenic (recessive)" "ACMG" "0000882612" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882613" "0" "90" "12" "103248395" "103248395" "subst" "0" "04409" "PAH_000253" "g.103248395A>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.102854617A>G" "" "pathogenic (recessive)" "ACMG" "0000882614" "21" "90" "12" "103311087" "103314283" "del" "0" "04409" "PAH_000247" "g.103311087_103314283del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102917309_102920505del" "" "pathogenic (recessive)" "ACMG" "0000882615" "21" "90" "12" "103260442" "103260442" "subst" "0" "04409" "PAH_000244" "g.103260442C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882616" "21" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "04409" "PAH_000121" "g.103288534G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882617" "11" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882618" "11" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "04409" "PAH_000149" "g.103237426T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882619" "11" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "04409" "PAH_000157" "g.103246597C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882620" "21" "90" "12" "103237873" "103237873" "subst" "0" "04409" "PAH_000187" "g.103237873G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882621" "21" "90" "12" "103240702" "103240702" "subst" "8.12869E-6" "04409" "PAH_000055" "g.103240702G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882622" "11" "90" "12" "103248626" "103248626" "subst" "0" "04409" "PAH_000255" "g.103248626A>C" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant creates splice donor site" "Germline" "yes" "" "0" "" "" "g.102854848A>C" "" "pathogenic (recessive)" "ACMG" "0000882623" "21" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "04409" "PAH_000086" "g.103246707C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882624" "11" "90" "12" "103259940" "103259940" "subst" "0" "04409" "PAH_000256" "g.103259940G>A" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant creates new splice donor site" "Germline" "yes" "" "0" "" "" "g.102866162G>A" "" "pathogenic (recessive)" "ACMG" "0000882625" "11" "90" "12" "103260417" "103260417" "subst" "0" "04409" "PAH_000257" "g.103260417C>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882626" "21" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "04409" "PAH_000023" "g.103234255C>G" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882627" "21" "90" "12" "103240677" "103240677" "subst" "0" "04409" "PAH_000258" "g.103240677G>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882628" "11" "90" "12" "103248306" "103248306" "subst" "0" "04409" "PAH_000236" "g.103248306T>G" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay" "Germline" "yes" "" "0" "" "" "g.102854528T>G" "" "pathogenic (recessive)" "ACMG" "0000882629" "21" "90" "12" "103260385" "103260385" "subst" "0" "04409" "PAH_000259" "g.103260385G>C" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882630" "11" "90" "12" "103237856" "103237856" "subst" "0" "04409" "PAH_000227" "g.103237856G>T" "" "{PMID:Luo 2023:36849017}" "" "" "effect on splicing predicted from in vitro mini-gene splicing assay; variant activates cryptic exon" "Germline" "yes" "" "0" "" "" "g.102844078G>T" "" "pathogenic (recessive)" "ACMG" "0000882631" "21" "90" "12" "103246602" "103246602" "subst" "0" "04409" "PAH_000260" "g.103246602G>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882632" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000882633" "11" "90" "12" "103310865" "103310866" "del" "0" "04409" "PAH_000141" "g.103310865_103310866del" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "?" "" "0" "" "" "g.102917087_102917088del" "" "pathogenic (recessive)" "ACMG" "0000882634" "21" "90" "12" "103246680" "103246680" "subst" "8.12889E-6" "04409" "PAH_000007" "g.103246680C>T" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "ACMG" "0000882635" "11" "90" "12" "103236922" "103236922" "subst" "0" "04409" "PAH_000185" "g.103236922T>A" "" "{PMID:Luo 2023:36849017}" "" "" "" "Germline" "yes" "" "0" "" "" "g.102843144T>A" "" "pathogenic (recessive)" "ACMG" "0000890231" "0" "30" "12" "103234251" "103234251" "subst" "0.00748536" "02327" "PAH_000020" "g.103234251G>A" "" "" "" "PAH(NM_000277.3):c.1242C>T (p.Y414=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000890232" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "02325" "PAH_000046" "g.103238137G>C" "" "" "" "PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890233" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "02325" "PAH_000157" "g.103246597C>T" "" "" "" "PAH(NM_000277.3):c.838G>A (p.E280K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890234" "0" "90" "12" "103246606" "103246606" "subst" "1.62522E-5" "02325" "PAH_000073" "g.103246606A>C" "" "" "" "PAH(NM_000277.3):c.829T>G (p.Y277D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890235" "0" "70" "12" "103246680" "103246680" "subst" "8.12889E-6" "02327" "PAH_000007" "g.103246680C>T" "" "" "" "PAH(NM_000277.3):c.755G>A (p.R252Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890236" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "02327" "PAH_000108" "g.103249094G>A" "" "" "" "PAH(NM_000277.1):c.526C>T (p.R176*), PAH(NM_000277.3):c.526C>T (p.R176*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890237" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "02325" "PAH_000115" "g.103260410C>T" "" "" "" "PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000890238" "0" "70" "12" "103306564" "103306564" "subst" "4.4694E-5" "02327" "PAH_000132" "g.103306564C>G" "" "" "" "PAH(NM_000277.3):c.168+5G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000890239" "0" "70" "12" "103306568" "103306568" "subst" "0" "02327" "PAH_000386" "g.103306568C>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000897037" "11" "90" "12" "103288638" "103288638" "subst" "0" "00006" "PAH_000261" "g.103288638T>C" "" "{PMID:Chen 2002:11935335}" "" "" "" "De novo" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897039" "3" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897040" "3" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897041" "3" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897042" "3" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897043" "3" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897044" "3" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897045" "3" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897046" "3" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897047" "3" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000897048" "3" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897049" "1" "90" "12" "103311316" "103315082" "del" "0" "00006" "PAH_000398" "g.103311316_103315082del" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "-4173_-407del3767" "" "Germline" "" "" "0" "" "" "g.102917538_102921304del" "" "pathogenic (recessive)" "" "0000897050" "1" "90" "12" "103311316" "103315082" "del" "0" "00006" "PAH_000398" "g.103311316_103315082del" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "-4173_-407del3767" "" "Germline" "" "" "0" "" "" "g.102917538_102921304del" "" "pathogenic (recessive)" "" "0000897051" "1" "90" "12" "103248938" "103248938" "subst" "0" "00006" "PAH_000342" "g.103248938C>A" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102855160C>A" "" "pathogenic (recessive)" "" "0000897052" "1" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000897053" "1" "90" "12" "103288610" "103288625" "del" "0" "00006" "PAH_000378" "g.103288610_103288625del" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "241_256del16 (T81_R86>VfsX6)" "" "Germline" "" "" "0" "" "" "g.102894832_102894847del" "" "pathogenic (recessive)" "" "0000897054" "1" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000897055" "1" "90" "12" "103246588" "103246588" "subst" "8.12922E-6" "00006" "PAH_000067" "g.103246588C>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "IVS7+5G>A" "effect on splicing predicted from splicing assay" "Germline" "" "" "0" "" "" "g.102852810C>T" "" "pathogenic (recessive)" "" "0000897056" "1" "90" "12" "103311316" "103315082" "del" "0" "00006" "PAH_000398" "g.103311316_103315082del" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "-4173_-407del3767" "" "Germline" "" "" "0" "" "" "g.102917538_102921304del" "" "pathogenic (recessive)" "" "0000897057" "1" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "IVS4-1G>A" "" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic (recessive)" "" "0000897058" "1" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000897059" "1" "90" "12" "103311316" "103315082" "del" "0" "00006" "PAH_000398" "g.103311316_103315082del" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "-4173_-407del3767" "" "Germline" "" "" "0" "" "" "g.102917538_102921304del" "" "pathogenic (recessive)" "" "0000897060" "1" "90" "12" "103311316" "103315082" "del" "0" "00006" "PAH_000398" "g.103311316_103315082del" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "-4173_-407del3767" "" "Germline" "" "" "0" "" "" "g.102917538_102921304del" "" "pathogenic (recessive)" "" "0000897061" "1" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000897062" "1" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000897063" "1" "90" "12" "103237555" "103237555" "subst" "1.62747E-5" "00006" "PAH_000290" "g.103237555G>C" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102843777G>C" "" "pathogenic (recessive)" "" "0000897064" "1" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000897065" "1" "90" "12" "103260422" "103260429" "dup" "0" "00006" "PAH_000364" "g.103260422_103260429dup" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "463_464insTGTGTACC;509+15_18del" "" "Germline" "" "" "0" "" "" "g.102866644_102866651dup" "" "pathogenic (recessive)" "" "0000897066" "1" "90" "12" "103245473" "103245473" "del" "0" "00006" "PAH_000231" "g.103245473del" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "904delT" "" "Germline" "" "" "0" "" "" "g.102851695del" "" "pathogenic (recessive)" "" "0000897067" "1" "90" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852887C>A" "" "pathogenic (recessive)" "" "0000897068" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897069" "1" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897070" "1" "90" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852887C>A" "" "pathogenic (recessive)" "" "0000897071" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897072" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897073" "1" "90" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852887C>A" "" "pathogenic (recessive)" "" "0000897074" "1" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897075" "1" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897076" "1" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897077" "1" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897078" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897079" "1" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic" "" "0000897080" "1" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897081" "1" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897082" "1" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897083" "1" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897084" "1" "90" "12" "103240707" "103240707" "subst" "4.06435E-6" "00006" "PAH_000306" "g.103240707C>A" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102846929C>A" "" "pathogenic (recessive)" "" "0000897085" "1" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "V399V" "" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000897086" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic" "" "0000897087" "1" "90" "12" "103240702" "103240702" "subst" "8.12869E-6" "00006" "PAH_000055" "g.103240702G>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102846924G>T" "" "pathogenic (recessive)" "" "0000897088" "1" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic (recessive)" "" "0000897089" "1" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic (recessive)" "" "0000897090" "1" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic (recessive)" "" "0000897091" "1" "90" "12" "103237449" "103237449" "subst" "5.6893E-5" "00006" "PAH_000225" "g.103237449A>T" "2/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102843671A>T" "" "pathogenic (recessive)" "" "0000897092" "1" "90" "12" "103237449" "103237449" "subst" "5.6893E-5" "00006" "PAH_000225" "g.103237449A>T" "2/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102843671A>T" "" "pathogenic" "" "0000897093" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897094" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897095" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897096" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897097" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897098" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897099" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897100" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897101" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897102" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897103" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897104" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897105" "1" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897106" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897107" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897108" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897109" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897110" "2" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897111" "2" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "8/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000897112" "2" "90" "12" "103249051" "103249051" "subst" "0" "00006" "PAH_000348" "g.103249051A>C" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102855273A>C" "" "pathogenic (recessive)" "" "0000897113" "2" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897114" "2" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "V399V" "" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000897115" "2" "90" "12" "103240707" "103240707" "subst" "4.06435E-6" "00006" "PAH_000306" "g.103240707C>A" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102846929C>A" "" "pathogenic (recessive)" "" "0000897116" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000897117" "2" "90" "12" "103288638" "103288638" "subst" "0" "00006" "PAH_000261" "g.103288638T>C" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102894860T>C" "" "pathogenic (recessive)" "" "0000897118" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897119" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897120" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897121" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897122" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897123" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897124" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897125" "2" "90" "12" "103260419" "103260419" "subst" "2.0316E-5" "00006" "PAH_000243" "g.103260419C>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102866641C>T" "" "pathogenic (recessive)" "" "0000897126" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897127" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897128" "2" "90" "12" "103246635" "103246635" "subst" "0" "00006" "PAH_000330" "g.103246635T>C" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852857T>C" "" "pathogenic (recessive)" "" "0000897129" "2" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "V399V" "" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000897130" "2" "90" "12" "103246680" "103246680" "subst" "8.12889E-6" "00006" "PAH_000007" "g.103246680C>T" "2/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852902C>T" "" "pathogenic (recessive)" "" "0000897131" "2" "90" "12" "103240707" "103240707" "subst" "4.06435E-6" "00006" "PAH_000306" "g.103240707C>A" "3/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102846929C>A" "" "pathogenic (recessive)" "" "0000897132" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897133" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897134" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897135" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897136" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897137" "2" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "33/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000897138" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897139" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897140" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000897141" "2" "90" "12" "103245487" "103245487" "subst" "8.13696E-6" "00006" "PAH_000174" "g.103245487C>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102851709C>T" "" "pathogenic (recessive)" "" "0000897142" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897143" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897144" "2" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "2/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "IVS8-7A>G" "" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000897145" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897146" "2" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "V399V" "" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000897147" "2" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" ".208_210delTCT" "" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "" "0000897148" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000897149" "2" "90" "12" "103246680" "103246680" "subst" "8.12889E-6" "00006" "PAH_000007" "g.103246680C>T" "2/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852902C>T" "" "pathogenic (recessive)" "" "0000897150" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897151" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897152" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897153" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897154" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897155" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897156" "2" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "2/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "IVS8-7A>G" "" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000897157" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000897158" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000897159" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897160" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897161" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "17/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000897162" "2" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic (recessive)" "" "0000897163" "2" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic (recessive)" "" "0000897164" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "13/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "EX6-96A>G" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000897165" "2" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "5/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "V399V" "" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000897166" "2" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic (recessive)" "" "0000897167" "2" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "4/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "" "" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic (recessive)" "" "0000897168" "1" "30" "12" "103260360" "103260363" "del" "0" "00006" "PAH_000354" "g.103260360_103260363del" "1/142 case chromosomes" "{PMID:Liang 2014:24401910}" "" "463_464insTGTGTACC;509+15_18del" "" "Germline" "" "" "0" "" "" "g.102866582_102866585del" "" "likely benign" "" "0000897177" "0" "10" "12" "103237468" "103237468" "=" "0.861674" "00006" "PAH_000014" "g.103237468G>C" "" "{PMID:Liang 2014:24401910}" "" "1155G/C (L385L)" "" "Germline" "" "" "0" "" "" "g.102843690G>C" "" "benign" "" "0000897178" "0" "10" "12" "103246700" "103246700" "subst" "0.289791" "00006" "PAH_000083" "g.103246700C>T" "" "{PMID:Liang 2014:24401910}" "" "V245V" "" "Germline" "" "" "0" "" "" "g.102852922C>T" "" "benign" "" "0000897179" "0" "10" "12" "103248924" "103248924" "=" "0" "00006" "PAH_000340" "g.103248924=" "" "{PMID:Liang 2014:24401910}" "" "Q232Q" "" "Germline" "" "" "0" "" "" "g.102855146=" "" "benign" "" "0000897180" "0" "10" "12" "103306550" "103306550" "subst" "0.201502" "00006" "PAH_000130" "g.103306550A>G" "" "{PMID:Liang 2014:24401910}" "" "IVS2+19T>C" "" "Germline" "" "" "0" "" "" "g.102912772A>G" "" "benign" "" "0000897181" "0" "10" "12" "103271350" "103271350" "=" "0" "00006" "PAH_000371" "g.103271350=" "" "{PMID:Liang 2014:24401910}" "" "IVS3-22T>C" "" "Germline" "" "" "0" "" "" "g.102877572=" "" "benign" "" "0000897182" "0" "10" "12" "103271193" "103271193" "subst" "0.374106" "00006" "PAH_000366" "g.103271193G>A" "" "{PMID:Liang 2014:24401910}" "" "IVS4+47C>T" "" "Germline" "" "" "0" "" "" "g.102877415G>A" "" "benign" "" "0000897183" "0" "10" "12" "103238017" "103238017" "=" "0" "00006" "PAH_000292" "g.103238017=" "" "{PMID:Liang 2014:24401910}" "" "IVS10+97A>G" "" "Germline" "" "" "0" "" "" "g.102844239=" "" "benign" "" "0000897218" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Gemperle-Britschgi 2016:26481238}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000897219" "1" "90" "12" "103260411" "103260411" "subst" "2.84416E-5" "00006" "PAH_000212" "g.103260411G>A" "" "{PMID:Gemperle-Britschgi 2016:26481238}" "" "" "" "Germline" "" "" "0" "" "" "g.102866633G>A" "" "pathogenic (recessive)" "" "0000897220" "1" "90" "12" "103237568" 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"g.103248779_103260430del" "" "{PMID:Lee 2008:18985011}" "" "del ex5_6, 56_706+138del11653" "" "Germline" "" "" "0" "" "" "g.102855001_102866652del" "" "pathogenic (recessive)" "" "0000897409" "2" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000897410" "2" "90" "12" "103271239" "103271329" "dup" "0" "00006" "PAH_000368" "g.(103260442_103271239)_(103271329_103288512)dup" "" "{PMID:Lee 2008:18985011}" "" "dup ex4" "" "Germline" "" "" "0" "" "" "g.(102866664_102877461)_(102877551_102894734)dup" "" "pathogenic (recessive)" "" "0000897411" "2" "90" "12" "103237571" "103237571" "subst" "0" "00006" "PAH_000291" "g.103237571G>C" "" "{PMID:Lee 2008:18985011}" "" "IVS10-14C>G" "" "Germline" "" "" "0" "" "" "g.102843793G>C" "" "pathogenic (recessive)" "" "0000897412" "2" "90" "12" "103246660" "103246660" "subst" "4.06345E-6" "00006" "PAH_000331" "g.103246660C>T" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102852882C>T" "" "pathogenic (recessive)" "" "0000897413" "2" "90" "12" "103240728" "103240728" "del" "0" "00006" "PAH_000309" "g.103240728del" "" "{PMID:Lee 2008:18985011}" "" "916delA" "" "Germline" "" "" "0" "" "" "g.102846950del" "" "pathogenic (recessive)" "" "0000897414" "2" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "00006" "PAH_000226" "g.103237555G>T" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102843777G>T" "" "pathogenic (recessive)" "" "0000897415" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000897416" "2" "70" "12" "103238148" "103238148" "subst" "0" "00006" "PAH_000294" "g.103238148C>T" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102844370C>T" "" "likely pathogenic (recessive)" "" "0000897417" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000897418" "2" "90" "12" "103232973" "103232973" "subst" "0" "00006" "PAH_000265" "g.103232973C>G" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102839195C>G" "" "pathogenic (recessive)" "" "0000897419" "2" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "00006" "PAH_000226" "g.103237555G>T" "" "{PMID:Lee 2008:18985011}" "" "" "" "Germline" "" "" "0" "" "" "g.102843777G>T" "" "pathogenic (recessive)" "" "0000897422" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "81/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic" "" "0000897423" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "44/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic" "" "0000897424" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "8/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic" "" "0000897425" "0" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "32/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "EX6-96A>G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic" "" "0000897426" "0" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "15/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "EX6-96A>G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic" "" "0000897427" "0" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "6/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "EX6-96A>G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic" "" "0000897428" "0" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "00006" "PAH_000226" "g.103237555G>T" "31/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843777G>T" "" "pathogenic" "" "0000897429" "0" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "00006" "PAH_000226" "g.103237555G>T" "8/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843777G>T" "" "pathogenic" "" "0000897430" "0" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "00006" "PAH_000226" "g.103237555G>T" "8/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843777G>T" "" "pathogenic" "" "0000897431" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "23/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic" "" "0000897432" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "15/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic" "" "0000897433" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "7/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic" "" "0000897434" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "30/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS4-1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic" "" "0000897435" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "7/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS4-1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic" "" "0000897436" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "4/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "IVS4-1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic" "" "0000897437" "0" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "27/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "Val399=" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic" "" "0000897438" "0" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "10/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "Val399=" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic" "" "0000897439" "0" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "2/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "Val399=" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic" "" "0000897440" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "10/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic" "" "0000897441" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "25/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic" "" "0000897442" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "4/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic" "" "0000897443" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "22/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic" "" "0000897444" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "5/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic" "" "0000897445" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic" "" "0000897446" "0" "90" "12" "103246591" "103246591" "subst" "0" "00006" "PAH_000188" "g.103246591A>T" "15/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS7+2 T>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852813A>T" "" "pathogenic" "" "0000897447" "0" "90" "12" "103246591" "103246591" "subst" "0" "00006" "PAH_000188" "g.103246591A>T" "10/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS7+2 T>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852813A>T" "" "pathogenic" "" "0000897448" "0" "90" "12" "103246591" "103246591" "subst" "0" "00006" "PAH_000188" "g.103246591A>T" "3/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "IVS7+2 T>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852813A>T" "" "pathogenic" "" "0000897449" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "15/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic" "" "0000897450" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "6/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic" "" "0000897451" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "3/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic" "" "0000897452" "0" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "20/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic" "" "0000897453" "0" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic" "" "0000897454" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "11/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic" "" "0000897455" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "7/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic" "" "0000897456" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "2/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic" "" "0000897457" "0" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000186" "g.103237424C>T" "10/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843646C>T" "" "pathogenic" "" "0000897458" "0" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000186" "g.103237424C>T" "9/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843646C>T" "" "pathogenic" "" "0000897459" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "8/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "208_210delTCT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic" "" "0000897460" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "8/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "208_210delTCT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic" "" "0000897461" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "2/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "208_210delTCT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic" "" "0000897462" "0" "90" "12" "103246671" "103246671" "subst" "0" "00006" "PAH_000233" "g.103246671A>G" "12/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852893A>G" "" "pathogenic" "" "0000897463" "0" "90" "12" "103246671" "103246671" "subst" "0" "00006" "PAH_000233" "g.103246671A>G" "4/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852893A>G" "" "pathogenic" "" "0000897464" "0" "90" "12" "103311316" "103315073" "del" "0" "00006" "PAH_000397" "g.103311316_103315073del" "11/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "-4163_-406del3758" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917538_102921295del" "" "pathogenic" "" "0000897465" "0" "90" "12" "103311316" "103315073" "del" "0" "00006" "PAH_000397" "g.103311316_103315073del" "4/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "-4163_-406del3758" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917538_102921295del" "" "pathogenic" "" "0000897466" "0" "90" "12" "103311316" "103315073" "del" "0" "00006" "PAH_000397" "g.103311316_103315073del" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "-4163_-406del3758" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917538_102921295del" "" "pathogenic" "" "0000897467" "0" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "6/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic" "" "0000897468" "0" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "8/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic" "" "0000897469" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "9/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic" "" "0000897470" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic" "" "0000897471" "0" "90" "12" "103234241" "103234241" "subst" "4.06134E-6" "00006" "PAH_000276" "g.103234241T>G" "9/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840463T>G" "" "pathogenic" "" "0000897472" "0" "90" "12" "103234241" "103234241" "subst" "4.06134E-6" "00006" "PAH_000276" "g.103234241T>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840463T>G" "" "pathogenic" "" "0000897473" "0" "90" "12" "103234237" "103234237" "subst" "8.12262E-6" "00006" "PAH_000275" "g.103234237T>C" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840459T>C" "" "pathogenic" "" "0000897474" "0" "90" "12" "103234237" "103234237" "subst" "8.12262E-6" "00006" "PAH_000275" "g.103234237T>C" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840459T>C" "" "pathogenic" "" "0000897475" "0" "90" "12" "103234237" "103234237" "subst" "8.12262E-6" "00006" "PAH_000275" "g.103234237T>C" "7/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840459T>C" "" "pathogenic" "" "0000897476" "0" "90" "12" "103234172" "103234172" "subst" "0" "00006" "PAH_000220" "g.103234172A>T" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS12+6 T>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840394A>T" "" "pathogenic" "" "0000897477" "0" "90" "12" "103234172" "103234172" "subst" "0" "00006" "PAH_000220" "g.103234172A>T" "5/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS12+6 T>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840394A>T" "" "pathogenic" "" "0000897478" "0" "90" "12" "103234172" "103234172" "subst" "0" "00006" "PAH_000220" "g.103234172A>T" "3/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "IVS12+6 T>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840394A>T" "" "pathogenic" "" "0000897479" "0" "90" "12" "103260385" "103260385" "subst" "0" "00006" "PAH_000259" "g.103260385G>C" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866607G>C" "" "pathogenic" "" "0000897480" "0" "90" "12" "103260385" "103260385" "subst" "0" "00006" "PAH_000259" "g.103260385G>C" "6/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866607G>C" "" "pathogenic" "" "0000897481" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "7/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic" "" "0000897482" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic" "" "0000897483" "0" "90" "12" "103248926" "103248926" "subst" "4.06402E-6" "00006" "PAH_000190" "g.103248926G>A" "6/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855148G>A" "" "pathogenic" "" "0000897484" "0" "90" "12" "103248926" "103248926" "subst" "4.06402E-6" "00006" "PAH_000190" "g.103248926G>A" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855148G>A" "" "pathogenic" "" "0000897485" "0" "90" "12" "103248926" "103248926" "subst" "4.06402E-6" "00006" "PAH_000190" "g.103248926G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855148G>A" "" "pathogenic" "" "0000897486" "0" "90" "12" "103246695" "103246695" "subst" "0" "00006" "PAH_000234" "g.103246695C>A" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852917C>A" "" "pathogenic" "" "0000897487" "0" "90" "12" "103246695" "103246695" "subst" "0" "00006" "PAH_000234" "g.103246695C>A" "5/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852917C>A" "" "pathogenic" "" "0000897488" "0" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "7/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic" "" "0000897489" "0" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic" "" "0000897490" "0" "90" "12" "103260411" "103260411" "subst" "2.84416E-5" "00006" "PAH_000212" "g.103260411G>A" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866633G>A" "" "pathogenic" "" "0000897491" "0" "90" "12" "103260411" "103260411" "subst" "2.84416E-5" "00006" "PAH_000212" "g.103260411G>A" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866633G>A" "" "pathogenic" "" "0000897492" "0" "90" "12" "103248949" "103248949" "subst" "0" "00006" "PAH_000345" "g.103248949A>G" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855171A>G" "" "pathogenic" "" "0000897493" "0" "90" "12" "103248949" "103248949" "subst" "0" "00006" "PAH_000345" "g.103248949A>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855171A>G" "" "pathogenic" "" "0000897494" "0" "90" "12" "103248949" "103248949" "subst" "0" "00006" "PAH_000345" "g.103248949A>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855171A>G" "" "pathogenic" "" "0000897495" "0" "90" "12" "103246696" "103246696" "subst" "0" "00006" "PAH_000333" "g.103246696C>G" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852918C>G" "" "pathogenic" "" "0000897496" "0" "90" "12" "103246696" "103246696" "subst" "0" "00006" "PAH_000333" "g.103246696C>G" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852918C>G" "" "pathogenic" "" "0000897497" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic" "" "0000897498" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic" "" "0000897499" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic" "" "0000897500" "0" "90" "12" "103237509" "103237509" "subst" "4.06382E-6" "00006" "PAH_000036" "g.103237509T>A" "3/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843731T>A" "" "pathogenic" "" "0000897501" "0" "90" "12" "103237509" "103237509" "subst" "4.06382E-6" "00006" "PAH_000036" "g.103237509T>A" "2/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843731T>A" "" "pathogenic" "" "0000897502" "0" "90" "12" "103237449" "103237449" "subst" "5.6893E-5" "00006" "PAH_000225" "g.103237449A>T" "5/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843671A>T" "" "pathogenic" "" "0000897503" "0" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000224" "g.103237424C>G" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843646C>G" "" "pathogenic" "" "0000897504" "0" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000224" "g.103237424C>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843646C>G" "" "pathogenic" "" "0000897505" "0" "90" "12" "103288545" "103288545" "subst" "1.62456E-5" "00006" "PAH_000376" "g.103288545T>C" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894767T>C" "" "pathogenic" "" "0000897506" "0" "90" "12" "103288545" "103288545" "subst" "1.62456E-5" "00006" "PAH_000376" "g.103288545T>C" "3/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894767T>C" "" "pathogenic" "" "0000897507" "0" "90" "12" "103246713" "103246713" "del" "0" "00006" "PAH_000335" "g.103246713del" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "722delG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852935del" "" "pathogenic" "" "0000897508" "0" "90" "12" "103246713" "103246713" "del" "0" "00006" "PAH_000335" "g.103246713del" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "722delG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852935del" "" "pathogenic" "" "0000897509" "0" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "Ser349Ala" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic" "" "0000897510" "0" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "Ser349Ala" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic" "" "0000897511" "0" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "Ser349Ala" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic" "" "0000897512" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS10–11" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic" "" "0000897513" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS10–11" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic" "" "0000897514" "0" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS2+5G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic" "" "0000897515" "0" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS2+5G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic" "" "0000897516" "0" "90" "12" "103310865" "103310866" "del" "0" "00006" "PAH_000141" "g.103310865_103310866del" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "47_48delCT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917087_102917088del" "" "pathogenic" "" "0000897517" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "4/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic" "" "0000897518" "0" "90" "12" "103260378" "103260378" "subst" "0" "00006" "PAH_000356" "g.103260378G>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866600G>T" "" "pathogenic" "" "0000897519" "0" "90" "12" "103260378" "103260378" "subst" "0" "00006" "PAH_000356" "g.103260378G>T" "3/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866600G>T" "" "pathogenic" "" "0000897520" "0" "90" "12" "103246608" "103246608" "subst" "0" "00006" "PAH_000326" "g.103246608A>T" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852830A>T" "" "pathogenic" "" "0000897521" "0" "90" "12" "103246608" "103246608" "subst" "0" "00006" "PAH_000326" "g.103246608A>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852830A>T" "" "pathogenic" "" "0000897522" "0" "90" "12" "103246608" "103246608" "subst" "0" "00006" "PAH_000326" "g.103246608A>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852830A>T" "" "pathogenic" "" "0000897523" "0" "90" "12" "103245467" "103245467" "subst" "0" "00006" "PAH_000314" "g.103245467G>T" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851689G>T" "" "pathogenic" "" "0000897524" "0" "90" "12" "103245467" "103245467" "subst" "0" "00006" "PAH_000314" "g.103245467G>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851689G>T" "" "pathogenic" "" "0000897525" "0" "90" "12" "103237476" "103237476" "subst" "0" "00006" "PAH_000286" "g.103237476G>C" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843698G>C" "" "pathogenic" "" "0000897526" "0" "90" "12" "103237476" "103237476" "subst" "0" "00006" "PAH_000286" "g.103237476G>C" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843698G>C" "" "pathogenic" "" "0000897527" "0" "90" "12" "103237464" "103237464" "subst" "0" "00006" "PAH_000285" "g.103237464A>C" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843686A>C" "" "pathogenic" "" "0000897528" "0" "90" "12" "103234204" "103234204" "subst" "0" "00006" "PAH_000272" "g.103234204A>G" "3/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840426A>G" "" "pathogenic" "" "0000897529" "0" "90" "12" "103234173" "103234173" "subst" "0" "00006" "PAH_000267" "g.103234173C>G" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS12+5G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840395C>G" "" "pathogenic" "" "0000897530" "0" "90" "12" "103234173" "103234173" "subst" "0" "00006" "PAH_000267" "g.103234173C>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS12+5G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840395C>G" "" "pathogenic" "" "0000897531" "0" "90" "12" "103260413" "103260413" "subst" "0" "00006" "PAH_000363" "g.103260413C>T" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866635C>T" "" "pathogenic" "" "0000897532" "0" "90" "12" "103260408" "103260408" "subst" "0" "00006" "PAH_000361" "g.103260408T>A" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866630T>A" "" "pathogenic" "" "0000897533" "0" "90" "12" "103260408" "103260408" "subst" "0" "00006" "PAH_000361" "g.103260408T>A" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866630T>A" "" "pathogenic" "" "0000897534" "0" "90" "12" "103260401" "103260401" "subst" "0" "00006" "PAH_000360" "g.103260401A>G" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866623A>G" "" "pathogenic" "" "0000897535" "0" "90" "12" "103260401" "103260401" "subst" "0" "00006" "PAH_000360" "g.103260401A>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866623A>G" "" "pathogenic" "" "0000897536" "0" "90" "12" "103310849" "103310850" "delins" "0" "00006" "PAH_000393" "g.103310849_103310850delinsGG" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "59_60AG>CC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917071_102917072delinsGG" "" "pathogenic" "" "0000897537" "0" "90" "12" "103310849" "103310850" "delins" "0" "00006" "PAH_000393" "g.103310849_103310850delinsGG" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "59_60AG>CC" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917071_102917072delinsGG" "" "pathogenic" "" "0000897538" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "3/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic" "" "0000897539" "0" "90" "12" "103246680" "103246680" "subst" "8.12889E-6" "00006" "PAH_000007" "g.103246680C>T" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852902C>T" "" "pathogenic" "" "0000897540" "0" "90" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852887C>A" "" "pathogenic" "" "0000897541" "0" "90" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852887C>A" "" "pathogenic" "" "0000897542" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic" "" "0000897543" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic" "" "0000897544" "0" "90" "12" "103238208" "103238208" "subst" "0" "00006" "PAH_000302" "g.103238208A>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844430A>T" "" "pathogenic" "" "0000897545" "0" "90" "12" "103238208" "103238208" "subst" "0" "00006" "PAH_000302" "g.103238208A>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844430A>T" "" "pathogenic" "" "0000897546" "0" "90" "12" "103238208" "103238208" "subst" "0" "00006" "PAH_000302" "g.103238208A>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844430A>T" "" "pathogenic" "" "0000897547" "0" "90" "12" "103307512" "103309723" ";" "0" "00006" "PAH_000391" "g.[103307512_103309723del;103309724_103309779inv;103309780_103312840del]" "3/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "-1932_60+3402del5269ins65" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.[102913734_102915945del;102915946_102916001inv;102916002_102919062del]" "" "pathogenic" "" "0000897548" "0" "90" "12" "103238155" "103238155" "subst" "0" "00006" "PAH_000295" "g.103238155C>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844377C>T" "" "pathogenic" "" "0000897549" "0" "90" "12" "103238155" "103238155" "subst" "0" "00006" "PAH_000295" "g.103238155C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844377C>T" "" "pathogenic" "" "0000897550" "0" "90" "12" "103238134" "103238134" "subst" "0" "00006" "PAH_000250" "g.103238134A>C" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "Ser349Pro" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844356A>C" "" "pathogenic" "" "0000897551" "0" "90" "12" "103238134" "103238134" "subst" "0" "00006" "PAH_000250" "g.103238134A>C" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "Ser349Pro" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844356A>C" "" "pathogenic" "" "0000897552" "0" "90" "12" "103238125" "103238125" "subst" "0" "00006" "PAH_000293" "g.103238125C>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844347C>G" "" "pathogenic" "" "0000897553" "0" "90" "12" "103238125" "103238125" "subst" "0" "00006" "PAH_000293" "g.103238125C>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844347C>G" "" "pathogenic" "" "0000897554" "0" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic" "" "0000897555" "0" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic" "" "0000897556" "0" "90" "12" "103288584" "103288586" "del" "0" "00006" "PAH_000181" "g.103288584_103288586del" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "284_286delTCA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894806_102894808del" "" "pathogenic" "" "0000897557" "0" "90" "12" "103288584" "103288586" "del" "0" "00006" "PAH_000181" "g.103288584_103288586del" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "284_286delTCA" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894806_102894808del" "" "pathogenic" "" "0000897558" "0" "90" "12" "103260429" "103260429" "subst" "0" "00006" "PAH_000365" "g.103260429G>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866651G>T" "" "pathogenic" "" "0000897559" "0" "90" "12" "103260429" "103260429" "subst" "0" "00006" "PAH_000365" "g.103260429G>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866651G>T" "" "pathogenic" "" "0000897560" "0" "90" "12" "103248955" "103248955" "subst" "0" "00006" "PAH_000099" "g.103248955T>C" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855177T>C" "" "pathogenic" "" "0000897561" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic" "" "0000897562" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic" "" "0000897563" "0" "90" "12" "103246660" "103246660" "subst" "4.06345E-6" "00006" "PAH_000331" "g.103246660C>T" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "Ala259Ser" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852882C>T" "" "pathogenic" "" "0000897564" "0" "90" "12" "103246602" "103246602" "subst" "0" "00006" "PAH_000260" "g.103246602G>A" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852824G>A" "" "pathogenic" "" "0000897565" "0" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS8-7A>G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic" "" "0000897566" "0" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "IVS8-7A>G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic" "" "0000897567" "0" "90" "12" "103240716" "103240716" "subst" "4.06438E-6" "00006" "PAH_000307" "g.103240716G>T" "2/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846938G>T" "" "pathogenic" "" "0000897568" "0" "90" "12" "103238202" "103238202" "subst" "4.07325E-6" "00006" "PAH_000301" "g.103238202C>T" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844424C>T" "" "pathogenic" "" "0000897569" "0" "90" "12" "103260373" "103271329" "del" "0" "00006" "PAH_000355" "g.(103249111_103260373)_(103271329_103288512)del" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "del ex4-5" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(102855333_102866595)_(102877551_102894734)del" "" "pathogenic" "" "0000897570" "0" "90" "12" "103260373" "103271329" "del" "0" "00006" "PAH_000355" "g.(103249111_103260373)_(103271329_103288512)del" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "del ex4-5" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(102855333_102866595)_(102877551_102894734)del" "" "pathogenic" "" "0000897571" "0" "90" "12" "103287046" "103293635" "delins" "0" "00006" "PAH_000373" "g.103287046_103293635delinsCAGGTGC" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "169-4940_352+1459del6604ins8" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102893268_102899857delinsCAGGTGC" "" "pathogenic" "" "0000897572" "0" "90" "12" "103246592" "103271329" "del" "0" "00006" "PAH_000324" "g.(103245535_103246592)_(103271329_103288512)del" "2/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "del ex4-7" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(102851757_102852814)_(102877551_102894734)del" "" "pathogenic" "" "0000897573" "0" "90" "12" "103238155" "103238155" "subst" "0" "00006" "PAH_000296" "g.103238155C>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844377C>A" "" "pathogenic" "" "0000897574" "0" "90" "12" "103237500" "103237500" "subst" "3.25132E-5" "00006" "PAH_000287" "g.103237500G>C" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843722G>C" "" "pathogenic" "" "0000897575" "0" "90" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843706G>A" "" "pathogenic" "" "0000897576" "0" "90" "12" "103237451" "103237451" "subst" "0" "00006" "PAH_000284" "g.103237451C>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "1172C>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843673C>G" "" "pathogenic" "" "0000897577" "0" "90" "12" "103237423" "103237423" "subst" "4.06428E-6" "00006" "PAH_000281" "g.103237423C>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS11+1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843645C>T" "" "pathogenic" "" "0000897578" "0" "90" "12" "103237423" "103237423" "subst" "8.12856E-6" "00006" "PAH_000282" "g.103237423C>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS11+1G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843645C>G" "" "pathogenic" "" "0000897579" "0" "90" "12" "103234294" "103234294" "subst" "0" "00006" "PAH_000279" "g.103234294C>G" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "IVS11-1G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840516C>G" "" "pathogenic" "" "0000897580" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic" "" "0000897581" "0" "90" "12" "103234277" "103234277" "subst" "8.12315E-6" "00006" "PAH_000278" "g.103234277T>C" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840499T>C" "" "pathogenic" "" "0000897582" "0" "90" "12" "103306616" "103306616" "subst" "0" "00006" "PAH_000389" "g.103306616G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912838G>A" "" "pathogenic" "" "0000897583" "0" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic" "" "0000897584" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic" "" "0000897585" "0" "90" "12" "103234251" "103234251" "subst" "0" "00006" "PAH_000277" "g.103234251G>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840473G>T" "" "pathogenic" "" "0000897586" "0" "90" "12" "103234231" "103234231" "subst" "4.06141E-6" "00006" "PAH_000274" "g.103234231A>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840453A>G" "" "pathogenic" "" "0000897587" "0" "90" "12" "103234208" "103234208" "subst" "8.12288E-6" "00006" "PAH_000273" "g.103234208G>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840430G>T" "" "pathogenic" "" "0000897588" "0" "90" "12" "103234190" "103234190" "subst" "0" "00006" "PAH_000271" "g.103234190C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840412C>T" "" "pathogenic" "" "0000897589" "0" "90" "12" "103234174" "103234174" "subst" "4.06207E-6" "00006" "PAH_000268" "g.103234174T>C" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS12+4A>G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840396T>C" "" "pathogenic" "" "0000897590" "0" "90" "12" "103232981" "103232981" "subst" "0" "00006" "PAH_000266" "g.103232981A>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102839203A>G" "" "pathogenic" "" "0000897591" "0" "90" "12" "103306586" "103306586" "subst" "0" "00006" "PAH_000387" "g.103306586C>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912808C>G" "" "pathogenic" "" "0000897592" "0" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS2+5G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic" "" "0000897593" "0" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000385" "g.103306564C>A" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS2+5G>T" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912786C>A" "" "pathogenic" "" "0000897594" "0" "90" "12" "103288671" "103288671" "subst" "0" "00006" "PAH_000382" "g.103288671A>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894893A>T" "" "pathogenic" "" "0000897595" "0" "90" "12" "103288660" "103288660" "subst" "0" "00006" "PAH_000381" "g.103288660G>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894882G>T" "" "pathogenic" "" "0000897596" "0" "90" "12" "103288653" "103288653" "subst" "0" "00006" "PAH_000177" "g.103288653C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894875C>T" "" "pathogenic" "" "0000897597" "1" "50" "12" "103288585" "103288585" "subst" "0.000113723" "00006" "PAH_000377" "g.103288585T>C" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "280A>G/688G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894807T>C" "" "VUS" "" "0000897598" "1" "50" "12" "103288533" "103288533" "subst" "8.12348E-6" "00006" "PAH_000375" "g.103288533C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "332G>A+1054G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894755C>T" "" "VUS" "" "0000897599" "0" "90" "12" "103260419" "103260419" "subst" "2.0316E-5" "00006" "PAH_000243" "g.103260419C>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866641C>T" "" "pathogenic" "" "0000897600" "0" "90" "12" "103260381" "103260381" "subst" "0" "00006" "PAH_000358" "g.103260381A>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866603A>T" "" "pathogenic" "" "0000897601" "0" "90" "12" "103260378" "103260378" "subst" "1.21887E-5" "00006" "PAH_000357" "g.103260378G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866600G>A" "" "pathogenic" "" "0000897602" "0" "90" "12" "103249104" "103249104" "subst" "3.66119E-5" "00006" "PAH_000351" "g.103249104C>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855326C>A" "" "pathogenic" "" "0000897603" "0" "90" "12" "103310960" "103310960" "subst" "0" "00006" "PAH_000396" "g.103310960C>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102917182C>G" "" "pathogenic" "" "0000897604" "0" "90" "12" "103248931" "103248931" "subst" "0" "00006" "PAH_000341" "g.103248931A>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855153A>G" "" "pathogenic" "" "0000897605" "0" "90" "12" "103246729" "103246729" "subst" "0" "00006" "PAH_000336" "g.103246729C>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS6-1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852951C>T" "" "pathogenic" "" "0000897606" "0" "90" "12" "103246711" "103246711" "subst" "0" "00006" "PAH_000235" "g.103246711G>A" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852933G>A" "" "pathogenic" "" "0000897607" "0" "90" "12" "103246698" "103246698" "subst" "0" "00006" "PAH_000334" "g.103246698G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852920G>A" "" "pathogenic" "" "0000897608" "0" "90" "12" "103246662" "103246662" "subst" "0" "00006" "PAH_000332" "g.103246662A>C" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852884A>C" "" "pathogenic" "" "0000897609" "0" "90" "12" "103246622" "103246622" "subst" "0" "00006" "PAH_000327" "g.103246622A>C" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852844A>C" "" "pathogenic" "" "0000897610" "0" "90" "12" "103246598" "103246598" "subst" "0.000178828" "00006" "PAH_000071" "g.103246598G>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852820G>A" "" "pathogenic" "" "0000897611" "0" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "IVS7+1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic" "" "0000897612" "0" "90" "12" "103246589" "103246589" "subst" "0" "00006" "PAH_000322" "g.103246589T>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "IVS7+4A>T" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852811T>A" "" "pathogenic" "" "0000897613" "0" "90" "12" "103245540" "103245540" "subst" "0" "00006" "PAH_000320" "g.103245540A>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS7-6 T>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851762A>G" "" "pathogenic" "" "0000897614" "0" "90" "12" "103245512" "103245512" "subst" "0" "00006" "PAH_000318" "g.103245512C>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851734C>T" "" "pathogenic" "" "0000897615" "0" "90" "12" "103245506" "103245506" "subst" "0" "00006" "PAH_000317" "g.103245506C>A" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851728C>A" "" "pathogenic" "" "0000897616" "0" "90" "12" "103306650" "103306650" "subst" "0" "00006" "PAH_000390" "g.103306650G>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912872G>T" "" "pathogenic" "" "0000897617" "0" "90" "12" "103245487" "103245487" "subst" "8.13696E-6" "00006" "PAH_000174" "g.103245487C>T" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851709C>T" "" "pathogenic" "" "0000897618" "0" "90" "12" "103245470" "103245470" "subst" "0" "00006" "PAH_000316" "g.103245470A>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851692A>G" "" "pathogenic" "" "0000897619" "0" "90" "12" "103245467" "103245467" "subst" "0" "00006" "PAH_000315" "g.103245467G>A" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851689G>A" "" "pathogenic" "" "0000897620" "0" "90" "12" "103245466" "103245466" "subst" "0" "00006" "PAH_000313" "g.103245466T>C" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851688T>C" "" "pathogenic" "" "0000897621" "0" "90" "12" "103240717" "103240717" "subst" "0" "00006" "PAH_000308" "g.103240717C>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846939C>T" "" "pathogenic" "" "0000897622" "0" "90" "12" "103240677" "103240677" "subst" "0" "00006" "PAH_000258" "g.103240677G>T" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846899G>T" "" "pathogenic" "" "0000897623" "0" "90" "12" "103240669" "103240669" "subst" "0" "00006" "PAH_000303" "g.103240669T>A" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "IVS9+4A>T" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846891T>A" "" "pathogenic" "" "0000897624" "0" "90" "12" "103238187" "103238187" "subst" "4.06832E-6" "00006" "PAH_000300" "g.103238187A>G" "1/253 cases classic PKU" "{PMID:Yan 2019:30747360}" "" "" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844409A>G" "" "pathogenic" "" "0000897625" "0" "90" "12" "103234177" "103234294" "dup" "0" "00006" "PAH_000270" "g.(103232997_103234177)_(103234294_103237423)dup" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "dup ex12" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(102839219_102840399)_(102840516_102843645)dup" "" "pathogenic" "" "0000897626" "0" "90" "12" "103248026" "103255818" "delins" "0" "00006" "PAH_000337" "g.103248026_103255818delinsCC" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "510-6708_706+888del7793insGG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102854248_102862040delinsCC" "" "pathogenic" "" "0000897627" "0" "90" "12" "103288512" "103288697" "del" "0" "00006" "PAH_000374" "g.(103271329_103288512)_(103288697_103306568)del" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "del ex3" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.(102877551_102894734)_(102894919_102912790)del" "" "pathogenic" "" "0000897628" "1" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "1/72 cases mild hyperphenylalaninemia" "{PMID:Yan 2019:30747360}" "" "280A>G/688G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic" "" "0000897629" "1" "90" "12" "103238125" "103238125" "subst" "0" "00006" "PAH_000293" "g.103238125C>G" "1/150 cases moderate PKU" "{PMID:Yan 2019:30747360}" "" "332G>A+1054G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844347C>G" "" "pathogenic" "" "0000897630" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897631" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897632" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897633" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897634" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897635" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897636" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897637" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897638" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897639" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897640" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897641" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897642" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897643" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897644" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897645" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897646" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897647" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897648" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897649" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897650" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897651" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897652" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897653" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897654" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897655" "1" "90" "12" "103248942" "103248942" "subst" "0" "00006" "PAH_000343" "g.103248942C>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855164C>G" "" "pathogenic (recessive)" "" "0000897656" "1" "90" "12" "103248942" "103248942" "subst" "0" "00006" "PAH_000343" "g.103248942C>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855164C>G" "" "pathogenic (recessive)" "" "0000897657" "1" "90" "12" "103248942" "103248942" "subst" "0" "00006" "PAH_000343" "g.103248942C>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855164C>G" "" "pathogenic (recessive)" "" "0000897658" "1" "90" "12" "103248942" "103248942" "subst" "0" "00006" "PAH_000343" "g.103248942C>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855164C>G" "" "pathogenic (recessive)" "" "0000897659" "1" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897660" "1" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897661" "1" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897662" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897663" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897664" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897665" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000897666" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000897667" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "6/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000897668" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "6/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000897669" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897670" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897671" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897672" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897673" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897674" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897675" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "6/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000897676" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "6/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000897677" "3" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897678" "3" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897679" "1" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-3C>T" "" "Germline" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000897680" "1" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-3C>T" "" "Germline" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000897681" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897682" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897683" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897684" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897685" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897686" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897687" "1" "90" "12" "103310850" "103310854" "del" "0" "00006" "PAH_000394" "g.103310850_103310854del" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "56_59+1delACAGG" "" "Germline" "" "" "0" "" "" "g.102917072_102917076del" "" "pathogenic (recessive)" "" "0000897688" "1" "90" "12" "103271282" "103271285" "del" "0" "00006" "PAH_000369" "g.103271282_103271285del" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "398_401delATCA" "" "Germline" "" "" "0" "" "" "g.102877504_102877507del" "" "pathogenic (recessive)" "" "0000897689" "1" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "2/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000897690" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897691" "1" "90" "12" "103240731" "103240731" "subst" "0" "00006" "PAH_000310" "g.103240731T>C" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.102846953T>C" "" "pathogenic (recessive)" "" "0000897692" "1" "90" "12" "103237534" "103237534" "del" "0" "00006" "PAH_000289" "g.103237534del" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "c.1089delG" "" "Germline" "" "" "0" "" "" "g.102843756del" "" "pathogenic (recessive)" "" "0000897693" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000897694" "1" "90" "12" "103271282" "103271285" "del" "0" "00006" "PAH_000369" "g.103271282_103271285del" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "398_401delATCA" "" "Germline" "" "" "0" "" "" "g.102877504_102877507del" "" "pathogenic (recessive)" "" "0000897695" "1" "90" "12" "103271282" "103271285" "del" "0" "00006" "PAH_000369" "g.103271282_103271285del" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "398_401delATCA" "" "Germline" "" "" "0" "" "" "g.102877504_102877507del" "" "pathogenic (recessive)" "" "0000897696" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897697" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "6/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000897698" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897699" "1" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-3C>T" "" "Germline" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000897700" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897701" "1" "90" "12" "103245463" "103245463" "subst" "0" "00006" "PAH_000312" "g.103245463A>G" "3/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8+2T>C" "" "Germline" "" "" "0" "" "" "g.102851685A>G" "" "pathogenic (recessive)" "" "0000897702" "1" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000897703" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000897704" "1" "90" "12" "103271282" "103271285" "del" "0" "00006" "PAH_000369" "g.103271282_103271285del" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "398_401delATCA" "" "Germline" "" "" "0" "" "" "g.102877504_102877507del" "" "pathogenic (recessive)" "" "0000897705" "1" "90" "12" "103310865" "103310866" "ins" "0" "00006" "PAH_000395" "g.103310865_103310866insCT" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "43_44insAG" "" "Germline" "" "" "0" "" "" "g.102917087_102917088insCT" "" "pathogenic (recessive)" "" "0000897706" "1" "70" "12" "103288680" "103288680" "subst" "0" "00006" "PAH_000383" "g.103288680A>G" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894902A>G" "" "likely pathogenic (recessive)" "" "0000897707" "1" "90" "12" "103259598" "103260548" "del" "0" "00006" "PAH_000353" "g.103259598_103260548del" "3/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "EX5del955, g.50448_51402del955" "" "Germline" "" "" "0" "" "" "g.102865820_102866770del" "" "pathogenic (recessive)" "" "0000897708" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897709" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897710" "1" "90" "12" "103259598" "103260548" "del" "0" "00006" "PAH_000353" "g.103259598_103260548del" "3/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "EX5del955, g.50448_51402del955" "" "Germline" "" "" "0" "" "" "g.102865820_102866770del" "" "pathogenic (recessive)" "" "0000897711" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "6/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000897712" "1" "70" "12" "103260412" "103260412" "subst" "0" "00006" "PAH_000362" "g.103260412T>G" "2/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102866634T>G" "" "likely pathogenic (recessive)" "" "0000897713" "1" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897714" "1" "90" "12" "103240731" "103240731" "subst" "0" "00006" "PAH_000310" "g.103240731T>C" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.102846953T>C" "" "pathogenic (recessive)" "" "0000897715" "1" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897716" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000897717" "1" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897718" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897719" "1" "90" "12" "103271282" "103271285" "del" "0" "00006" "PAH_000369" "g.103271282_103271285del" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "398_401delATCA" "" "Germline" "" "" "0" "" "" "g.102877504_102877507del" "" "pathogenic (recessive)" "" "0000897720" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000897721" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000897722" "3" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897723" "1" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS2+5G>C" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic (recessive)" "" "0000897724" "1" "90" "12" "103249051" "103249051" "subst" "0" "00006" "PAH_000104" "g.103249051A>G" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855273A>G" "" "pathogenic (recessive)" "" "0000897725" "1" "90" "12" "103248942" "103248942" "subst" "0" "00006" "PAH_000343" "g.103248942C>G" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855164C>G" "" "pathogenic (recessive)" "" "0000897726" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897727" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000897728" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897729" "1" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS4+5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000897730" "1" "70" "12" "103306603" "103306603" "subst" "0" "00006" "PAH_000388" "g.103306603A>G" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102912825A>G" "" "likely pathogenic (recessive)" "" "0000897731" "1" "90" "12" "103284599" "103289362" "del" "0" "00006" "PAH_000372" "g.103284599_103289362del" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "EX3del4765, g.21560_26324del4765" "" "Germline" "" "" "0" "" "" "g.102890821_102895584del" "" "pathogenic (recessive)" "" "0000897732" "1" "90" "12" "103259598" "103260548" "del" "0" "00006" "PAH_000353" "g.103259598_103260548del" "3/214 case chromosomes" "{PMID:Groselj 2012:22513348}" "" "EX5del955, g.50448_51402del955" "" "Germline" "" "" "0" "" "" "g.102865820_102866770del" "" "pathogenic (recessive)" "" "0000897733" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897734" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897735" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-11G>A" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000897736" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897737" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897738" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897739" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897740" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897741" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897742" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897743" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897744" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897745" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897746" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897747" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897748" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897749" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897750" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897751" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897752" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897753" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897754" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897755" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897756" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897757" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897758" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897759" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897760" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897761" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897762" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897763" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897764" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897765" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897766" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897767" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897768" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897769" "2" "90" "12" "103245463" "103245463" "subst" "0" "00006" "PAH_000312" "g.103245463A>G" "3/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8+2T>C" "" "Germline" "" "" "0" "" "" "g.102851685A>G" "" "pathogenic (recessive)" "" "0000897770" "2" "90" "12" "103245463" "103245463" "subst" "0" "00006" "PAH_000312" "g.103245463A>G" "3/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8+2T>C" "" "Germline" "" "" "0" "" "" "g.102851685A>G" "" "pathogenic (recessive)" "" "0000897771" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897772" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897773" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897774" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897775" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897776" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897777" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000897778" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000897779" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897780" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897781" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897782" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897783" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897784" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897785" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897786" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897787" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897788" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897789" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897790" "2" "90" "12" "103240731" "103240731" "subst" "0" "00006" "PAH_000310" "g.103240731T>C" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.102846953T>C" "" "pathogenic (recessive)" "" "0000897791" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897792" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897793" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897794" "2" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-3C>T" "" "Germline" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000897795" "2" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS10-3C>T" "" "Germline" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000897796" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "16/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000897797" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000897798" "2" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8-7A>G" "" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000897799" "2" "90" "12" "103240731" "103240731" "subst" "0" "00006" "PAH_000310" "g.103240731T>C" "4/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS8-2A>G" "" "Germline" "" "" "0" "" "" "g.102846953T>C" "" "pathogenic (recessive)" "" "0000897800" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897801" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "63/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000897802" "2" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic (recessive)" "" "0000897803" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "2/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000897804" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "9/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000897805" "2" "70" "12" "103260412" "103260412" "subst" "0" "00006" "PAH_000362" "g.103260412T>G" "2/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866634T>G" "" "likely pathogenic (recessive)" "" "0000897806" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000897807" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897808" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897809" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897810" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897811" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "7/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000897812" "2" "90" "12" "103249091" "103249091" "subst" "2.8462E-5" "00006" "PAH_000349" "g.103249091C>G" "1/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102855313C>G" "" "pathogenic (recessive)" "" "0000897813" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000897814" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "5/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000897815" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "14/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000897816" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897817" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897818" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000897819" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "15/214 case chromosomes" "{PMID:Groselj 2012:22513348}, {PMID:Tansek 2012:22917871}" "" "" "" "Germline" 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(recessive)" "" "0000897980" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897981" "2" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897982" "2" "90" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "rs62642937" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897983" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "rs5030857" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897984" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "no variant 2nd chromosome" "Germline" "" "rs62516092" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897985" "2" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "no variant 2nd chromosome" "Germline" "" "rs76212747" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897986" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "no variant 2nd chromosome" "Germline" "" "rs5030859" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897987" "2" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "00006" "PAH_000123" "g.103288554G>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62642929" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897988" "2" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "" 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"90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897994" "2" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516152" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897995" "2" "90" "12" "103246680" "103246680" "subst" "8.12889E-6" "00006" "PAH_000007" "g.103246680C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62644503" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897996" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030843" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897997" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs75193786" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897998" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516101" "0" "" "" "" "" "pathogenic (recessive)" "" "0000897999" "2" "90" "12" "103238167" "103238167" "subst" "8.1314E-6" "00006" "PAH_000297" "g.103238167C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516150" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898000" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508646" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898001" "2" "90" "12" "103271295" "103271295" "subst" "4.06134E-6" "00006" "PAH_000370" "g.103271295T>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898002" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508646" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898003" "2" "90" "12" "103238185" "103238185" "subst" "0" "00006" "PAH_000299" "g.103238185C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898004" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030843" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898005" "2" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516152" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898006" "2" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898007" "2" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508698" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898008" "2" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs76212747" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898009" "2" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030846" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898010" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508646" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898011" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030843" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898012" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030847" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898013" "2" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs74486803" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898014" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898015" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030851" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898016" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516101" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898017" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508646" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898018" "2" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs74486803" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898019" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508588" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898020" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898021" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898022" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516092" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898023" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516092" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898024" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030849" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898025" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs75193786" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898026" "2" "90" "12" "103271242" "103271242" "subst" "4.06085E-6" "00006" "PAH_000213" "g.103271242G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898027" "2" "90" "12" "103271235" "103271235" "subst" "0" "00006" "PAH_000367" "g.103271235C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62507321" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898028" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030856" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898029" "2" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030841" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898030" "2" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs118092776" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898031" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898032" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62516101" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898033" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898034" "2" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62517165" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898035" "2" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs76212747" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898036" "2" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030846" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898037" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508588" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898038" "2" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs74486803" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898039" "2" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898040" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030849" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898041" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898042" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508588" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898043" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030857" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898044" "2" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030841" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898045" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs75193786" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898046" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030858" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898047" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030849" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898048" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030857" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898049" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030853" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898050" "2" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508698" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898051" "2" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs76212747" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898052" "2" "90" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62642937" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898053" "2" "90" "12" "103246594" "103246594" "subst" "4.06445E-6" "00006" "PAH_000070" "g.103246594G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898054" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030855" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898055" "2" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508698" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898056" "2" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62507321" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898057" "2" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs76296470" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898058" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508588" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898059" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62508588" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898060" "2" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs62517165" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898061" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "rs5030855" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898062" "1" "90" "12" "103260393" "103260393" "subst" "1.62516E-5" "00006" "PAH_000359" "g.103260393T>C" "" "{PMID:Trujillano 2014:23942198}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000898083" "1" "90" "12" "103284599" "103289362" "del" "0" "00006" "PAH_000372" "g.103284599_103289362del" "" "{PMID:Kozak 2006:16931086}" "" "EX3del4765" "variant identified 12 times; combination of variants not reported" "Germline" "" "" "0" "" "" "g.102890821_102895584del" "" "pathogenic (recessive)" "" "0000898084" "1" "90" "12" "103259598" "103260548" "del" "0" "00006" "PAH_000353" "g.103259598_103260548del" "" "{PMID:Kozak 2006:16931086}" "" "EX5del955" "variant identified 17 times; combination of variants not reported" "Germline" "" "" "0" "" "" "g.102865820_102866770del" "" "pathogenic (recessive)" "" "0000898085" "1" "90" "12" "103259201" "103263354" "delins" "0" "00006" "PAH_000399" "g.103259201_103263354delins[CA;103254571_103254837]" "" "{PMID:Kozak 2006:16931086}" "" "EX5del4232ins268" "variant identified 2 times; combination of variants not reported" "Germline" "" "" "0" "" "" "g.102865423_102869576delins[CA;102860793_102861059]" "" "pathogenic (recessive)" "" "0000898096" "0" "90" "12" "103311386" "103311388" "del" "0" "00006" "PAH_000400" "g.103311386_103311388del" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "-480delACT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102917608_102917610del" "" "pathogenic (recessive)" "" "0000898097" "0" "90" "12" "103311534" "103311534" "subst" "0" "00006" "PAH_000400" "g.103311534G>A" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "-626G>C" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102917756G>A" "" "pathogenic (recessive)" "" "0000898098" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898099" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "6/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000898100" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "208-210delTCT" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "" "0000898101" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "7/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic (recessive)" "" "0000898102" "0" "90" "12" "103260419" "103260419" "subst" "2.0316E-5" "00006" "PAH_000243" "g.103260419C>T" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "500G>A (R155H)" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102866641C>T" "" "pathogenic (recessive)" "" "0000898103" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "2/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000898104" "0" "90" "12" "103260401" "103260401" "subst" "0" "00006" "PAH_000360" "g.103260401A>G" "4/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102866623A>G" "" "pathogenic (recessive)" "" "0000898105" "0" "90" "12" "103260385" "103260385" "subst" "0" "00006" "PAH_000259" "g.103260385G>C" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102866607G>C" "" "pathogenic (recessive)" "" "0000898106" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "2/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000898107" "0" "90" "12" "103249037" "103249037" "dup" "0" "00006" "PAH_000444" 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(recessive)" "" "0000898122" "0" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "4/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "V399V" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000898123" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "3/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000898124" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "3/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" "combination of variants not reported" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000898125" "0" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "1/122 cases PKU" "{PMID:Yu 2014:25550961}" "" "" 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PAH, IGF1, ASCL1 and TRA1 genes" "De novo" "" "" "0" "" "" "g.(?_102838326)_(102917603_?)del" "" "pathogenic (recessive)" "" "0000898133" "11" "10" "12" "103237470" "103237470" "subst" "0" "00006" "PAH_000402" "g.103237470G>A" "" "{PMID:Mallolas 2001:11434725}" "" "L385V" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000898135" "11" "10" "12" "103246700" "103246700" "subst" "0.289791" "00006" "PAH_000083" "g.103246700C>T" "" "{PMID:Mallolas 2001:11434725}" "" "V245V" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000898136" "11" "10" "12" "103271350" "103271350" "subst" "0.272972" "00006" "PAH_000163" "g.103271350G>A" "" "{PMID:Mallolas 2001:11434725}" "" "IVS3nt-22C-T" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000898140" "3" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "1/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" 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"g.102844356A>G" "" "pathogenic (recessive)" "" "0000898149" "1" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "1/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000898150" "3" "90" "12" "103238134" "103238134" "subst" "0" "00006" "PAH_000250" "g.103238134A>C" "2/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "" "" "Germline" "" "" "0" "" "" "g.102844356A>C" "" "pathogenic (recessive)" "" "0000898151" "3" "90" "12" "103238134" "103238134" "subst" "0" "00006" "PAH_000250" "g.103238134A>C" "1/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "" "" "Germline" "" "" "0" "" "" "g.102844356A>C" "" "pathogenic (recessive)" "" "0000898152" "3" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "1/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "1055delG" "" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000898153" "3" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "11/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "1055delG" "" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000898154" "3" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "1/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "1055delG" "" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000898155" "3" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "26/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "1055delG" "" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000898156" "3" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "1/122 cases PKU" "{PMID:Jeannesson-Thivisol 2015:26666653}" "" "1055delG" "" "Germline" "" "" 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"g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898903" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898904" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898905" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898906" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898907" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898908" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898909" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898910" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898911" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898912" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898913" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898914" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898915" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898916" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898917" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898918" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000898919" "3" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000898920" "3" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000898921" "3" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000898922" "3" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000898923" "3" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000898924" "3" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "7/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000898925" "3" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "2/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000898926" "3" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000898927" "1" "90" "12" "103306620" "103306620" "subst" "9.7492E-5" "00006" "PAH_000182" "g.103306620G>C" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102912842G>C" "" "pathogenic (recessive)" "" "0000898928" "1" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic (recessive)" "" "0000898929" "1" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "pathogenic (recessive)" "" "0000898930" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000898931" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000898932" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000898933" "1" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000898934" "1" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "1055delG" "" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000898935" "1" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000898936" "1" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000898937" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898938" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898939" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898940" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898941" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898942" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898943" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898944" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898945" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898946" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898947" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898948" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898949" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898950" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898951" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898952" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898953" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898954" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898955" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898956" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898957" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898958" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898959" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898960" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000898961" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" 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"" "pathogenic (recessive)" "" "0000898966" "1" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "7/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000898967" "1" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "7/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000898968" "1" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "7/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000898969" "1" "90" "12" "103271296" "103271296" "subst" "0" "00006" "PAH_000176" "g.103271296C>A" "10/446 chromosomes PKU" "{PMID:Groselj 2012:22513348}" "" "" "" "Germline" "" "" "0" "" "" "g.102877518C>A" "" 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"" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898982" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898983" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898984" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898985" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" 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"" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898990" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898991" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898992" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898993" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898994" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898995" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898996" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898997" "1" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "19/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000898998" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000898999" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000899000" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000899001" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000899002" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000899003" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000899004" "1" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000899005" "1" "90" "12" "103249087" "103249087" "subst" "6.50444E-5" "00006" "PAH_000107" "g.103249087T>C" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855309T>C" "" "pathogenic (recessive)" "" "0000899006" "1" "90" "12" "103249076" "103249076" "subst" "0" "00006" "PAH_000448" "g.103249076C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855298C>T" "" "pathogenic (recessive)" "" "0000899007" "1" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic (recessive)" "" "0000899008" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000899009" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000899010" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899011" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899012" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899013" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899014" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899015" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899016" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899017" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899018" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899019" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899020" "1" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899021" "1" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899022" "1" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899023" "1" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899024" "1" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899025" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899026" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899027" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899028" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899029" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899030" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899031" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899032" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899033" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899034" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899035" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899036" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899037" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899038" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899039" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899040" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899041" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899042" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899043" "1" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899044" "1" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899045" "1" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899046" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899047" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899048" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899049" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899050" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899051" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899052" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899053" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899054" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899055" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899056" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899057" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899058" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899059" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899060" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899061" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899062" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899063" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899064" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899065" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899066" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899067" "1" "90" "12" "103240677" "103240677" "subst" "5.69101E-5" "00006" "PAH_000416" "g.103240677G>C" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102846899G>C" "" "pathogenic (recessive)" "" "0000899068" "1" "90" "12" "103237547" "103237547" "subst" "0" "00006" "PAH_000412" "g.103237547G>A" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843769G>A" "" "pathogenic (recessive)" "" "0000899069" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000899070" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899071" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899072" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" 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2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899077" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899078" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899079" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899080" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" 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"103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899085" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899086" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899087" "1" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>C" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic (recessive)" "" "0000899088" "2" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS7+1G>A" "" "Germline" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic (recessive)" "" "0000899089" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899090" "2" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899091" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899092" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899093" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899094" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899095" "2" "90" "12" "103234231" "103234231" "subst" "4.06141E-6" "00006" "PAH_000274" "g.103234231A>G" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" 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"" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899108" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899109" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899110" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899111" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899112" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899113" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899114" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899115" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899116" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899117" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899118" "2" "90" "12" "103271247" "103271247" "subst" "6.4973E-5" "00006" "PAH_000459" "g.103271247T>A" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877469T>A" "" "pathogenic (recessive)" "" "0000899119" "2" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899120" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000899121" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899122" "2" "90" "12" "103237523" "103237523" "subst" "0" "00006" "PAH_000411" "g.103237523A>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843745A>T" "" "pathogenic (recessive)" "" "0000899123" "2" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000899124" "2" "90" "12" "103237419" "103237419" "subst" "0" "00006" "PAH_000406" "g.103237419C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS11+5G>A" "" "Germline" "" "" "0" "" "" "g.102843641C>T" "" "pathogenic (recessive)" "" "0000899125" "2" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899126" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "24/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000899127" "2" "90" "12" "103246713" "103246713" "subst" "0.000166812" "00006" "PAH_000090" "g.103246713C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic (recessive)" "" "0000899128" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000899129" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899130" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899131" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899132" "2" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899133" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899134" "2" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000899135" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899136" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899137" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899138" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899139" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000899140" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000899141" "2" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>C" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic (recessive)" "" "0000899142" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899143" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899144" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899145" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899146" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899147" "2" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "22/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000899148" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899149" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000899150" "2" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899151" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899152" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899153" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899154" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899155" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899156" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899157" "2" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000899158" "2" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000899159" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "63/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000899160" "2" "90" "12" "103240716" "103240716" "subst" "1.62575E-5" "00006" "PAH_000418" "g.103240716G>A" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102846938G>A" "" "pathogenic (recessive)" "" "0000899161" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899162" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899163" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899164" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899165" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899166" "2" "90" "12" "103240716" "103240716" "subst" "4.06438E-6" "00006" "PAH_000307" "g.103240716G>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102846938G>T" "" "pathogenic (recessive)" "" "0000899167" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899168" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899169" "2" "90" "12" "103271296" "103271296" "subst" "0" "00006" "PAH_000176" "g.103271296C>A" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877518C>A" "" "pathogenic (recessive)" "" "0000899170" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899171" "2" "90" "12" "103234264" "103234264" "subst" "0" "00006" "PAH_000405" "g.103234264A>C" "3/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840486A>C" "" "pathogenic (recessive)" "" "0000899172" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899173" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899174" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899175" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899176" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899177" "2" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000899178" "2" "90" "12" "103240716" "103240716" "subst" "1.62575E-5" "00006" "PAH_000418" "g.103240716G>A" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102846938G>A" "" "pathogenic (recessive)" "" "0000899179" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899180" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899181" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899182" "2" "90" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852848C>T" "" "pathogenic (recessive)" "" "0000899183" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899184" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899185" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899186" "2" "90" "12" "103271296" "103271296" "subst" "0" "00006" "PAH_000176" "g.103271296C>A" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877518C>A" "" "pathogenic (recessive)" "" "0000899187" "2" "90" "12" "103271296" "103271296" "subst" "0" "00006" "PAH_000176" "g.103271296C>A" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877518C>A" "" "pathogenic (recessive)" "" "0000899188" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899189" "2" "90" "12" "103288604" "103288604" "subst" "7.71693E-5" "00006" "PAH_000166" "g.103288604G>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894826G>T" "" "pathogenic (recessive)" "" "0000899190" "2" "90" "12" "103288604" "103288604" "subst" "7.71693E-5" "00006" "PAH_000166" "g.103288604G>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102894826G>T" "" "pathogenic (recessive)" "" "0000899191" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000899192" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899193" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899194" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899195" "2" "90" "12" "103240720" "103240720" "subst" "0" "00006" "PAH_000419" "g.103240720G>A" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102846942G>A" "" "pathogenic (recessive)" "" "0000899196" "2" "90" "12" "103271295" "103271295" "subst" "4.06134E-6" "00006" "PAH_000370" "g.103271295T>C" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877517T>C" "" "pathogenic (recessive)" "" "0000899197" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899198" "2" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000899199" "2" "90" "12" "103271247" "103271247" "subst" "6.4973E-5" "00006" "PAH_000459" "g.103271247T>A" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877469T>A" "" "pathogenic (recessive)" "" "0000899200" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899201" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899202" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000899203" "2" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000899204" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899205" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000899206" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899207" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899208" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "18/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000899209" "2" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000899210" "2" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000899211" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899212" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899213" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000899214" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000899215" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000899216" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000899217" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899218" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899219" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899220" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899221" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "60/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS10‐11G>A" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000899222" "2" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000899223" "2" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS2+5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000899224" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000899225" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000899226" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000899227" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899228" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899229" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "37/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000899230" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "2/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000899231" "2" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000899232" "2" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000899233" "2" "90" "12" "103245487" "103245487" "subst" "8.13696E-6" "00006" "PAH_000174" "g.103245487C>T" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851709C>T" "" "pathogenic (recessive)" "" "0000899234" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899235" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899236" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899237" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000899238" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "15/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000899239" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "6/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000899240" "2" "90" "12" "103271296" "103271296" "subst" "0" "00006" "PAH_000176" "g.103271296C>A" "10/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102877518C>A" "" "pathogenic (recessive)" "" "0000899241" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899242" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899243" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "11/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000899244" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "5/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000899245" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000899246" "2" "90" "12" "103240704" "103240704" "subst" "0" "00006" "PAH_000305" "g.103240704G>A" "1/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102846926G>A" "" "pathogenic (recessive)" "" "0000899247" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "4/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000899248" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "8/446 chromosomes PKU" "{PMID:Ferreira 2021:33465300}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000903299" "0" "10" "12" "103310979" "103310979" "subst" "0" "00006" "PAH_000536" "g.103310979T>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" 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"pathogenic (recessive)" "" "0000904089" "2" "90" "12" "103245539" "103245539" "subst" "0" "00006" "PAH_000066" "g.103245539A>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102851761A>G" "" "pathogenic (recessive)" "" "0000904090" "2" "90" "12" "103271239" "103271239" "subst" "4.06085E-6" "00006" "PAH_000515" "g.103271239C>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102877461C>G" "" "pathogenic (recessive)" "" "0000904091" "2" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "L48S" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000904092" "2" "90" "12" "103240668" "103240668" "subst" "0" "00006" "PAH_000487" "g.103240668C>T" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102846890C>T" "" "pathogenic (recessive)" "" "0000904093" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Shirzadeh 2018:30159852}" "" "R158Q" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000904094" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904095" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Shirzadeh 2018:30159852}" "" "A403V" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904096" "2" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "" "{PMID:Shirzadeh 2018:30159852}" "" "Y198Sfs*136" "" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic (recessive)" "" "0000904097" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Shirzadeh 2018:30159852}" "" "A300S" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000904098" "2" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic (recessive)" "" "0000904099" "2" "90" "12" "103248929" "103248929" "subst" "0" "00006" "PAH_000097" "g.103248929A>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "S231P" "" "Germline" "" "" "0" "" "" "g.102855151A>G" "" "pathogenic (recessive)" "" "0000904100" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Shirzadeh 2018:30159852}" "" "A300S" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000904101" "2" "90" "12" "103310907" "103310907" "subst" "8.12203E-6" "00006" "PAH_000535" "g.103310907A>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "(M1T)" "" "Germline" "" "" "0" "" "" "g.102917129A>G" "" "pathogenic (recessive)" "" "0000904102" "2" "90" "12" "103249111" "103249111" "subst" "0" "00006" "PAH_000507" "g.103249111C>T" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102855333C>T" "" "pathogenic (recessive)" "" "0000904103" "2" "90" "12" "103246729" "103246729" "subst" "0" "00006" "PAH_000497" "g.103246729C>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102852951C>G" "" "pathogenic (recessive)" "" "0000904104" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Shirzadeh 2018:30159852}" "" "A403V" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904105" "2" "90" "12" "103288480" "103288897" "del" "0" "00006" "PAH_000520" "g.(103271311_103288480)_(103288897_103306496)del" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.(102877533_102894702)_(102895119_102912718)del" "" "pathogenic (recessive)" "" "0000904106" "2" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic (recessive)" "" "0000904107" "2" "90" "12" "103288480" "103288897" "del" "0" "00006" "PAH_000520" "g.(103271311_103288480)_(103288897_103306496)del" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.(102877533_102894702)_(102895119_102912718)del" "" "pathogenic (recessive)" "" "0000904108" "2" "90" "12" "103240668" "103240668" "subst" "0" "00006" "PAH_000487" "g.103240668C>T" "" "{PMID:Shirzadeh 2018:30159852}" "" "" "" "Germline" "" "" "0" "" "" "g.102846890C>T" "" "pathogenic (recessive)" "" "0000904109" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Shirzadeh 2018:30159852}" "" "A403V" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904110" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Shirzadeh 2018:30159852}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904125" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Ellingsen 1997:8990021}" "" "IVS12nt1g>a" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000904126" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "" "{PMID:Ellingsen 1997:8990021}" "" "Ex6-96A>G ((Y204C)" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000904127" "0" "10" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "" "{PMID:Knappskog 1996:8889583}" "" "" "cDNA expression cloning shows small reduction instability (0.75 immunoreactivity A293 cells) and 0.80 residual enzymatic activity" "In vitro (cloned)" "" "" "0" "" "" "" "" "NA" "" "0000904128" "3" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904129" "3" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904130" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904131" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904132" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904133" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904134" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904135" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904136" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904137" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904138" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904139" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904140" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904141" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904142" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904143" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904144" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904145" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904146" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904147" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904148" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904149" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904150" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904151" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904152" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904153" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904154" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904155" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904156" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904157" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904158" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904159" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS12ntl" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904160" "3" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904161" "3" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904162" "3" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904163" "3" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904164" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904165" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904166" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904167" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904168" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904169" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904170" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904171" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904172" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904173" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904174" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904175" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904176" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904177" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904178" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904179" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904180" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904181" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904182" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904183" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904184" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904185" "1" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904186" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904187" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904188" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904189" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904190" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904191" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904192" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904193" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904194" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904195" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904196" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904197" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904198" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904199" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904200" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904201" "3" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904202" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904203" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904204" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904205" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904206" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904207" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904208" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904209" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904210" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904211" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904212" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904213" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904214" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904215" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904216" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904217" "3" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904218" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904219" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904220" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904221" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904222" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904223" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904224" "1" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904225" "1" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904226" "1" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904227" "3" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904228" "1" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904229" "3" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904230" "3" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904231" "1" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904232" "1" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904233" "3" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "P281L" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000904234" "3" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "I65T" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000904235" "3" "90" "12" "103237555" "103237555" "subst" "1.62747E-5" "00006" "PAH_000290" "g.103237555G>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y356X" "" "Germline" "" "" "0" "" "" "g.102843777G>C" "" "pathogenic (recessive)" "" "0000904236" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904237" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904238" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904239" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904240" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904241" "2" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G272X" "" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904242" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904243" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904244" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904245" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904246" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904247" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904248" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904249" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904250" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904251" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904252" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904253" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904254" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904255" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904256" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904257" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904258" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904259" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904260" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904261" "2" "90" "12" "103246660" "103246660" "subst" "4.06345E-6" "00006" "PAH_000331" "g.103246660C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "A259T" "" "Germline" "" "" "0" "" "" "g.102852882C>T" "" "pathogenic (recessive)" "" "0000904262" "2" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "E280K" "" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic (recessive)" "" "0000904263" "2" "90" "12" "103310906" "103310906" "subst" "0" "00006" "PAH_000534" "g.103310906C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "M1I" "" "Germline" "" "" "0" "" "" "g.102917128C>T" "" "pathogenic (recessive)" "" "0000904264" "2" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y204C/EXON6nt-96" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000904265" "2" "90" "12" "103260374" "103260374" "subst" "0" "00006" "PAH_000510" "g.103260374T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "H170R" "" "Germline" "" "" "0" "" "" "g.102866596T>C" "" "pathogenic (recessive)" "" "0000904266" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904267" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904268" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904269" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904270" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904271" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904272" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904273" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904274" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904275" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904276" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904277" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904278" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904279" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904280" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904281" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904282" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904283" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904284" "2" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R252W" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000904285" "2" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "A300S" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000904286" "2" "90" "12" "103271253" "103271253" "subst" "0" "00006" "PAH_000517" "g.103271253T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "D143G" "" "Germline" "" "" "0" "" "" "g.102877475T>C" "" "pathogenic (recessive)" "" "0000904287" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904288" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904289" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904290" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904291" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904292" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904293" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904294" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904295" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904296" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "I65T" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000904297" "2" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904298" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904299" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904300" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904301" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904302" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904303" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904304" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904305" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904306" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904307" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904308" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904309" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R158Q" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000904310" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904311" "2" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "L249F" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000904312" "2" "90" "12" "103248967" "103248967" "subst" "8.1279E-6" "00006" "PAH_000439" "g.103248967C>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G218V" "" "Germline" "" "" "0" "" "" "g.102855189C>A" "" "pathogenic (recessive)" "" "0000904313" "2" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "G46S" "" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904314" "2" "90" "12" "103237555" "103237555" "subst" "1.62747E-5" "00006" "PAH_000290" "g.103237555G>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "Y356X" "" "Germline" "" "" "0" "" "" "g.102843777G>C" "" "pathogenic (recessive)" "" "0000904315" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904316" "2" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R408Q" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904317" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "P281L" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000904318" "2" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R261X" "" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000904319" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "I65T" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000904320" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904321" "2" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "F299C" "" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904322" "2" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "IVS7nt1" "" "Germline" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic (recessive)" "" "0000904323" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R158Q" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000904324" "2" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "" "{PMID:Eiken 1996:8831077}, {PMID:Eiken 1996:8807331}" "" "R243X" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000904336" "21" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904337" "21" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904338" "11" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Eiken 1996:8807331}" "" "IVS10nt-11" "unknown variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904339" "21" "90" "12" "103248967" "103248967" "subst" "8.1279E-6" "00006" "PAH_000439" "g.103248967C>A" "" "{PMID:Eiken 1996:8807331}" "" "G218V" "" "Germline" "" "" "0" "" "" "g.102855189C>A" "" "pathogenic (recessive)" "" "0000904340" "21" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "" "{PMID:Eiken 1996:8807331}" "" "F55fs" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000904341" "21" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Eiken 1996:8807331}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904342" "21" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Eiken 1996:8807331}" "" "P281L" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000904343" "21" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Eiken 1996:8807331}" "" "IVS12nt1" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904344" "11" "90" "12" "103260447" "103260447" "subst" "0" "00006" "PAH_000514" "g.103260447A>T" "" "{PMID:Eiken 1996:8807331}" "" "IVS3nt-6" "" "Germline" "" "" "0" "" "" "g.102866669A>T" "" "pathogenic (recessive)" "" "0000904345" "11" "90" "12" "103237427" "103237430" "del" "0" "00006" "PAH_000477" "g.103237427_103237430del" "" "{PMID:Eiken 1996:8807331}" "" "delV399-R400fs" "" "Germline" "" "" "0" "" "" "g.102843649_102843652del" "" "pathogenic (recessive)" "" "0000904346" "11" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Eiken 1996:8807331}" "" "Y414C" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904347" "11" "90" "12" "103249091" "103249091" "subst" "2.8462E-5" "00006" "PAH_000349" "g.103249091C>G" "" "{PMID:Eiken 1996:8807331}" "" "V177L" "" "Germline" "" "" "0" "" "" "g.102855313C>G" "" "pathogenic (recessive)" "" "0000904348" "11" "90" "12" "103306568" "103306568" "subst" "0" "00006" "PAH_000531" "g.103306568C>T" "" "{PMID:Eiken 1996:8807331}" "" "IVS2nt1" "" "Germline" "" "" "0" "" "" "g.102912790C>T" "" "pathogenic (recessive)" "" "0000904349" "11" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "" "{PMID:Eiken 1996:8807331}" "" "L249F" "" "Germline" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000904350" "11" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "" "{PMID:Eiken 1996:8807331}" "" "R297C" "" "Germline" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000904363" "0" "10" "12" "103306550" "103306550" "subst" "0.201502" "00006" "PAH_000130" "g.103306550A>G" "" "{PMID:Eiken 1996:8875186}" "" "" "" "Germline" "" "" "0" "" "" "g.102912772A>G" "" "benign" "" "0000904364" "0" "10" "12" "103271350" "103271350" "subst" "0.272972" "00006" "PAH_000163" "g.103271350G>A" "" "{PMID:Eiken 1996:8875186}" "" "" "" "Germline" "" "" "0" "" "" "g.102877572G>A" "" "benign" "" "0000904365" "0" "10" "12" "103246700" "103246700" "subst" "0.289791" "00006" "PAH_000083" "g.103246700C>T" "" "{PMID:Eiken 1996:8875186}" "" "V245V" "" "Germline" "" "" "0" "" "" "g.102852922C>T" "" "benign" "" "0000904366" "0" "10" "12" "103248924" "103248924" "subst" "0.58109" "00006" "PAH_000340" "g.103248924C>T" "" "{PMID:Eiken 1996:8875186}" "" "Q232Q (G>A)" "" "Germline" "" "" "0" "" "" "g.102855146C>T" "" "benign" "" "0000904367" "0" "10" "12" "103237468" "103237468" "subst" "0.861674" "00006" "PAH_000014" "g.103237468G>C" "" "{PMID:Eiken 1996:8875186}" "" "L385L (C>G)" "" "Germline" "" "" "0" "" "" "g.102843690G>C" "" "benign" "" "0000904368" "0" "10" "12" "103233031" "103233031" "subst" "0.0160816" "00006" "PAH_000173" "g.103233031G>A" "" "{PMID:Eiken 1996:8875186}" "" "" "" "Germline" "" "" "0" "" "" "g.102839253G>A" "" "benign" "" "0000904377" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904378" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904379" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904380" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904381" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904382" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904383" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904384" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904385" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904386" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904387" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904388" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904389" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904390" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904391" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904392" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904393" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904394" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904395" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904396" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904397" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Dobrowolski 2009:19444284}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904398" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Dobrowolski 2009:19444284}" "" "" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904399" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904400" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904401" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904402" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904403" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904404" "1" "90" "12" "103246604" "103246614" "del" "0" "00006" "PAH_000492" "g.103246604_103246614del" "" "{PMID:Dobrowolski 2009:19444284}" "" "c.822-832delGCCCATGTATA" "" "Germline" "" "" "0" "" "" "g.102852826_102852836del" "" "pathogenic (recessive)" "" "0000904405" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Dobrowolski 2009:19444284}" "" "" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904406" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904407" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904408" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904409" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Dobrowolski 2009:19444284}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904410" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" 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"0000904572" "2" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS8-7a>g" "" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000904573" "2" "90" "12" "103310906" "103310906" "subst" "0" "00006" "PAH_000534" "g.103310906C>T" "3/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "M1I" "" "Germline" "" "" "0" "" "" "g.102917128C>T" "" "pathogenic (recessive)" "" "0000904574" "2" "90" "12" "103246653" "103246653" "subst" "0" "00006" "PAH_000077" "g.103246653C>G" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261P" "" "Germline" "" "" "0" "" "" "g.102852875C>G" "" "pathogenic (recessive)" "" "0000904575" "2" "90" "12" "103249008" "103249008" "subst" "4.06349E-6" "00006" "PAH_000501" "g.103249008A>C" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "Y204X" "" "Germline" "" "" "0" "" "" "g.102855230A>C" "" "pathogenic (recessive)" "" "0000904576" "3" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904577" "3" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904578" "3" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904579" "3" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904580" "3" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904581" "3" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "9/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS12+1g>a" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904582" "3" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "9/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS12+1g>a" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904583" "3" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "9/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS12+1g>a" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904584" "3" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "7/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904585" "3" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "24/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904586" "3" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "24/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904587" "3" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "24/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904588" "3" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "24/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904589" "3" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "24/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904590" "3" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "10/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "A403V" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904591" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "A300S" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000904592" "0" "90" "12" "103240716" "103240716" "subst" "1.62575E-5" "00006" "PAH_000418" "g.103240716G>A" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "A309V" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102846938G>A" "" "pathogenic (recessive)" "" "0000904593" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "10/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "A403V" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904594" "0" "90" "12" "103306597" "103306597" "subst" "4.0621E-6" "00006" "PAH_000532" "g.103306597G>A" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "A47V" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102912819G>A" "" "pathogenic (recessive)" "" "0000904595" "0" "90" "12" "103248971" "103248971" "subst" "0" "00006" "PAH_000100" "g.103248971A>C" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "C217G" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102855193A>C" "" "pathogenic (recessive)" "" "0000904596" "0" "90" "12" "103271248" "103271248" "subst" "0" "00006" "PAH_000516" "g.103271248C>T" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "D145N" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102877470C>T" "" "pathogenic (recessive)" "" "0000904597" "0" "90" "12" "103271247" "103271247" "subst" "6.4973E-5" "00006" "PAH_000459" "g.103271247T>A" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "D145V" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102877469T>A" "" "pathogenic (recessive)" "" "0000904598" "0" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "D415N" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000904599" "0" "90" "12" "103306622" "103306624" "del" "0" "00006" "PAH_000216" "g.103306622_103306624del" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "115-117delTTC (F39del)" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102912844_102912846del" "" "pathogenic (recessive)" "" "0000904600" "0" "90" "12" "103249087" "103249087" "subst" "6.50444E-5" "00006" "PAH_000107" "g.103249087T>C" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "E178G" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102855309T>C" "" "pathogenic (recessive)" "" "0000904601" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "3/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "E280K" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic (recessive)" "" "0000904602" "0" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "E390G" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000904603" "0" "90" "12" "103306620" "103306620" "subst" "9.7492E-5" "00006" "PAH_000182" "g.103306620G>C" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "F39L" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102912842G>C" "" "pathogenic (recessive)" "" "0000904604" "0" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "165delT (F55fs)" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000904605" "0" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "F55L" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "pathogenic (recessive)" "" "0000904606" "0" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "3/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "G272X" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904607" "0" "90" "12" "103245512" "103245512" "subst" "0" "00006" "PAH_000489" "g.103245512C>G" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "G289R" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102851734C>G" "" "pathogenic (recessive)" "" "0000904608" "0" "90" "12" "103234231" "103234231" "subst" "4.06141E-6" "00006" "PAH_000274" "g.103234231A>G" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "I421T" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102840453A>G" "" "pathogenic (recessive)" "" "0000904609" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "I65T" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000904610" "0" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "00006" "PAH_000139" "g.103310844C>A" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS1+5g>t" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "pathogenic (recessive)" "" "0000904611" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904612" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "9/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS12+1g>a" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904613" "0" "90" "12" "103260446" "103260446" "subst" "2.43942E-5" "00006" "PAH_000162" "g.103260446G>C" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS4-5c>g" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102866668G>C" "" "pathogenic (recessive)" "" "0000904614" "0" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "17/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS4+5g>t" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000904615" "0" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS8-7a>g" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000904616" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "2/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "L348V" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000904617" "0" "90" "12" "103310906" "103310906" "subst" "0" "00006" "PAH_000534" "g.103310906C>T" "3/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "M1I" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102917128C>T" "" "pathogenic (recessive)" "" "0000904618" "0" "90" "12" "103234177" "103234182" "del" "0" "00006" "PAH_000470" "g.103234177_103234182del" "1/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "1314-1315+4del6 (N438fs)" "combination of alleles not shown" "Germline" "" "" "0" "" "" "g.102840399_102840404del" "" "pathogenic (recessive)" "" "0000904619" "0" "90" "12" "103271317" "103271317" "subst" "4.0626E-6" "00006" "PAH_000518" "g.103271317G>A" "1/294chromosomes PKU" "{PMID:Bueno 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"g.102840507G>A" "" "pathogenic (recessive)" "" "0000904684" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "5/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "E390G" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000904685" "2" "90" "12" "103245465" "103245465" "subst" "4.06921E-6" "00006" "PAH_000204" "g.103245465C>T" "6/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "Q304Q" "" "Germline" "" "" "0" "" "" "g.102851687C>T" "" "pathogenic (recessive)" "" "0000904686" "2" "90" "12" "103237539" "103237539" "subst" "0" "00006" "PAH_000481" "g.103237539G>T" "3/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "P362T" "" "Germline" "" "" "0" "" "" "g.102843761G>T" "" "pathogenic (recessive)" "" "0000904687" "2" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "F55L" "" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "pathogenic (recessive)" "" "0000904688" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904689" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "32/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "IVS10-11g>a" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904690" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "5/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000904691" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "5/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000904692" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904693" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904694" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904695" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904696" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904697" "1" "90" "12" "103245465" "103245465" "subst" "4.06921E-6" "00006" "PAH_000204" "g.103245465C>T" "6/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "Q304Q" "" "Germline" "" "" "0" "" "" "g.102851687C>T" "" "pathogenic (recessive)" "" "0000904698" "1" "90" "12" "103245465" "103245465" "subst" "4.06921E-6" "00006" "PAH_000204" "g.103245465C>T" "6/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "Q304Q" "" "Germline" "" "" "0" "" "" "g.102851687C>T" "" "pathogenic (recessive)" "" "0000904699" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904700" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904701" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904702" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904703" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904704" "1" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "9/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R68S" "" "Germline" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000904705" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904706" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "22/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904707" "1" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "4/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "F55L" "" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "pathogenic (recessive)" "" "0000904708" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "13/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "I65T" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000904709" "1" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "9/294chromosomes PKU" "{PMID:Bueno 2013:23514811}" "" "R68S" "" "Germline" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000904710" "11" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "" "{PMID:Razipour 2017:28540274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000904711" "21" "70" "12" "103234270" "103234270" "subst" "0" "00006" "PAH_000467" "g.103234270C>A" "" "{PMID:Razipour 2017:28540274}" "" "" "" "Germline" "" "" "0" "" "" "" "" "likely pathogenic (recessive)" "" "0000904712" "3" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "" "{PMID:Kleiman 1992:1301943}" "" "Leu197fs" "" "Germline" "yes" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000904713" "3" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "" "{PMID:Benit 1994:8069318}" "" "Y198fsdel22" "no mRNA/protein detected; variant described as 593_614del but mentioned as described before (592_613del)" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic (recessive)" "" "0000904714" "1" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "" "{PMID:Benit 1994:8069318}" "" "G352fsdelG" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000904715" "21" "90" "12" "103237505" "103237506" "del" "0" "00006" "PAH_000468" "g.103237505_103237506del" "" "{PMID:Benit 1994:8069318}" "" "Ala373fsdelGC" "" "Germline" "" "" "0" "" "" "g.102843727_102843728del" "" "pathogenic (recessive)" "" "0000904716" "1" "90" "12" "103234274" "103234274" "del" "0" "00006" "PAH_000469" "g.103234274del" "" "{PMID:Benit 1994:8069318}" "" "P407fsdelC" "" "Germline" "" "" "0" "" "" "g.102840496del" "" "pathogenic (recessive)" "" "0000904890" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904891" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "44/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS12+1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904892" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "33/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS10-11G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904893" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "23/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R261Q" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000904894" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "19/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Y414C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904895" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "19/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R158Q" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000904896" "0" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "18/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "L48S" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000904897" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "17/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "P281L" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000904898" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "9/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "I65T" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000904899" "0" "90" "12" "103246604" "103246614" "del" "0" "00006" "PAH_000492" "g.103246604_103246614del" "8/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "K274fsdel11bp" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852826_102852836del" "" "pathogenic (recessive)" "" "0000904900" "0" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "8/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "G272X" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000904901" "0" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "00006" "PAH_000123" "g.103288554G>T" "8/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A104D" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894776G>T" "" "pathogenic (recessive)" "" "0000904902" "0" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "7/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "E390G" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000904903" "0" "90" "12" "103288661" "103288661" "subst" "0" "00006" "PAH_000559" "g.103288661T>R" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R68S" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894883T>R" "" "pathogenic (recessive)" "" "0000904904" "0" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R252W" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000904905" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R243Q" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000904906" "0" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS2+5G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000904907" "0" "90" "12" "103306620" "103306620" "subst" "9.7492E-5" "00006" "PAH_000182" "g.103306620G>C" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "F39L" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912842G>C" "" "pathogenic (recessive)" "" "0000904908" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "L348V" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000904909" "0" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS10-3C>T" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000904910" "0" "90" "12" "103237440" "103237440" "subst" "2.03194E-5" "00006" "PAH_000539" "g.103237440C>G" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A395P" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843662C>G" "" "pathogenic (recessive)" "" "0000904911" "0" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "3/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R361X" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000904912" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "3/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R243X" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000904913" "0" "90" "12" "103245464" "103245464" "subst" "1.2208E-5" "00006" "PAH_000180" "g.103245464C>T" "3/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS8+1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851686C>T" "" "pathogenic (recessive)" "" "0000904914" "0" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "3/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS7+1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic (recessive)" "" "0000904915" "1" "90" "12" "103246698" "103246698" "del" "8.13015E-6" "00006" "PAH_000549" "g.103246698del" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A246fsdelC" "" "Germline" "" "" "0" "" "" "g.102852920del" "" "pathogenic (recessive)" "" "0000904916" "0" "90" "12" "103237466" "103237466" "subst" "2.03216E-5" "00006" "PAH_000200" "g.103237466T>C" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Y386C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843688T>C" "" "pathogenic (recessive)" "" "0000904917" "0" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "S349P" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904918" "1" "90" "12" "103310907" "103310907" "subst" "0" "00006" "PAH_000562" "g.103310907A>C" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "M1R" "" "Germline" "" "" "0" "" "" "g.102917129A>C" "" "pathogenic (recessive)" "" "0000904919" "0" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "L197fsdel22bp" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic (recessive)" "" "0000904920" "0" "90" "12" "103246588" "103246588" "subst" "8.12922E-6" "00006" "PAH_000067" "g.103246588C>T" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS7+5G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852810C>T" "" "pathogenic (recessive)" "" "0000904921" "0" "90" "12" "103271235" "103271235" "subst" "0" "00006" "PAH_000555" "g.103271235C>G" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS4+5G>C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102877457C>G" "" "pathogenic (recessive)" "" "0000904922" "0" "90" "12" "103240726" "103240726" "subst" "1.21955E-5" "00006" "PAH_000060" "g.103240726T>C" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "I306V" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846948T>C" "" "pathogenic (recessive)" "" "0000904923" "0" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "F55L" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "pathogenic (recessive)" "" "0000904924" "0" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "F55fsdelT" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000904925" "0" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "F299C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000904926" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "E280K" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic (recessive)" "" "0000904927" "0" "90" "12" "103288615" "103288615" "subst" "8.12334E-6" "00006" "PAH_000525" "g.103288615C>A" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "D84Y" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894837C>A" "" "pathogenic (recessive)" "" "0000904928" "1" "90" "12" "103246698" "103246698" "del" "8.13015E-6" "00006" "PAH_000549" "g.103246698del" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A246fsdelC" "" "Germline" "" "" "0" "" "" "g.102852920del" "" "pathogenic (recessive)" "" "0000904929" "0" "90" "12" "103240716" "103240716" "subst" "1.62575E-5" "00006" "PAH_000418" "g.103240716G>A" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A309V" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846938G>A" "" "pathogenic (recessive)" "" "0000904930" "0" "90" "12" "103237464" "103237464" "subst" "0" "00006" "PAH_000541" "g.103237464A>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Y387H" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843686A>G" "" "pathogenic (recessive)" "" "0000904931" "0" "90" "12" "103237555" "103237555" "subst" "0" "00006" "PAH_000542" "g.103237555G>Y" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Y356X" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843777G>Y" "" "pathogenic (recessive)" "" "0000904932" "1" "90" "12" "103238205" "103238205" "subst" "4.07508E-6" "00006" "PAH_000546" "g.103238205T>C" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Y325C" "" "Germline" "" "" "0" "" "" "g.102844427T>C" "" "pathogenic (recessive)" "" "0000904933" "0" "90" "12" "103246606" "103246606" "subst" "1.62522E-5" "00006" "PAH_000073" "g.103246606A>C" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Y277D" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852828A>C" "" "pathogenic (recessive)" "" "0000904934" "0" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "V388M" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904935" "0" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "V245A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102852923A>G" "" "pathogenic (recessive)" "" "0000904936" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "V230I" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic (recessive)" "" "0000904937" "0" "90" "12" "103249051" "103249051" "subst" "0" "00006" "PAH_000104" "g.103249051A>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "V190A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102855273A>G" "" "pathogenic (recessive)" "" "0000904938" "1" "90" "12" "103232956" "103232960" "del" "0" "00006" "PAH_000537" "g.103232956_103232960del" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Ter452del5bp, 1357-1361del" "" "Germline" "" "" "0" "" "" "g.102839178_102839182del" "" "pathogenic (recessive)" "" "0000904939" "1" "90" "12" "103248928" "103248928" "subst" "0" "00006" "PAH_000161" "g.103248928G>A" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "S231F" "" "Germline" "" "" "0" "" "" "g.102855150G>A" "" "pathogenic (recessive)" "" "0000904940" "0" "90" "12" "0" "0" "" "0" "00006" "ALX1_000001" "g.?" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "S110C" "combination of alleles not reported" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000904941" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R413P" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000904942" "0" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408Q" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000904943" "1" "90" "12" "103260419" "103260419" "subst" "0" "00006" "PAH_000457" "g.103260419C>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R155P" "" "Germline" "" "" "0" "" "" "g.102866641C>G" "" "pathogenic (recessive)" "" "0000904944" "1" "90" "12" "103310850" "103310850" "subst" "0" "00006" "PAH_000561" "g.103310850T>A" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "Q20L" "" "Germline" "" "" "0" "" "" "g.102917072T>A" "" "pathogenic (recessive)" "" "0000904945" "11" "90" "12" "103248989" "103248989" "subst" "2.43809E-5" "00006" "PAH_000101" "g.103248989G>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "P211T" "" "Germline" "" "" "0" "" "" "g.102855211G>T" "" "pathogenic (recessive)" "" "0000904946" "0" "90" "12" "103260383" "103260383" "subst" "4.06303E-5" "00006" "PAH_000452" "g.103260383T>A" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "N167I" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866605T>A" "" "pathogenic (recessive)" "" "0000904947" "1" "90" "12" "103306615" "103306615" "subst" "0" "00006" "PAH_000560" "g.103306615A>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "L41P" "" "Germline" "" "" "0" "" "" "g.102912837A>G" "" "pathogenic (recessive)" "" "0000904948" "1" "90" "12" "103240672" "103240672" "subst" "0" "00006" "PAH_000415" "g.103240672C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS9+1G>A" "" "Germline" "" "" "0" "" "" "g.102846894C>T" "" "pathogenic (recessive)" "" "0000904949" "0" "90" "12" "103238113" "103238113" "subst" "4.06643E-6" "00006" "PAH_000414" "g.103238113C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS10+1G>A" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844335C>T" "" "pathogenic (recessive)" "" "0000904950" "0" "90" "12" "103288584" "103288584" "subst" "0" "00006" "PAH_000557" "g.103288584A>C" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "I94S" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894806A>C" "" "pathogenic (recessive)" "" "0000904951" "0" "90" "12" "103288584" "103288586" "del" "0" "00006" "PAH_000181" "g.103288584_103288586del" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "I94del" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102894806_102894808del" "" "pathogenic (recessive)" "" "0000904952" "0" "90" "12" "103245530" "103245530" "subst" "1.22114E-5" "00006" "PAH_000547" "g.103245530T>A" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "I283F" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851752T>A" "" "pathogenic (recessive)" "" "0000904953" "0" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "G46S" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000904954" "0" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "G352fsdelG" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000904955" "1" "90" "12" "103238148" "103238148" "subst" "0" "00006" "PAH_000543" "g.103238148C>A" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "G344V" "" "Germline" "" "" "0" "" "" "g.102844370C>A" "" "pathogenic (recessive)" "" "0000904956" "1" "90" "12" "103238149" "103238149" "subst" "0" "00006" "PAH_000544" "g.103238149C>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "G344R" "" "Germline" "" "" "0" "" "" "g.102844371C>G" "" "pathogenic (recessive)" "" "0000904957" "0" "90" "12" "103260441" "103260441" "subst" "8.12955E-6" "00006" "PAH_000554" "g.103260441C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "G148S" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102866663C>T" "" "pathogenic (recessive)" "" "0000904958" "1" "90" "12" "103234264" "103234264" "subst" "0" "00006" "PAH_000538" "g.103234264A>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "F410S" "" "Germline" "" "" "0" "" "" "g.102840486A>G" "" "pathogenic (recessive)" "" "0000904959" "0" "90" "12" "103306622" "103306624" "del" "0" "00006" "PAH_000216" "g.103306622_103306624del" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "F39del" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102912844_102912846del" "" "pathogenic (recessive)" "" "0000904960" "1" "90" "12" "103238189" "103238189" "subst" "0" "00006" "PAH_000545" "g.103238189C>R" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "E330D" "" "Germline" "" "" "0" "" "" "g.102844411C>R" "" "pathogenic (recessive)" "" "0000904961" "1" "90" "12" "103246590" "103246597" "del" "0" "00006" "PAH_000426" "g.103246590_103246597del" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "E280-IVS7+3fsdel8bp" "" "Germline" "" "" "0" "" "" "g.102852812_102852819del" "" "pathogenic (recessive)" "" "0000904962" "0" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "D415N" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000904963" "0" "90" "12" "103240716" "103240716" "subst" "4.06438E-6" "00006" "PAH_000307" "g.103240716G>T" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A309D" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102846938G>T" "" "pathogenic (recessive)" "" "0000904964" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A300S" "combination of alleles not reported" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000904965" "1" "90" "12" "103310907" "103310907" "subst" "0" "00006" "PAH_000562" "g.103310907A>C" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "M1R" "" "Germline" "" "" "0" "" "" "g.102917129A>C" "" "pathogenic (recessive)" "" "0000904966" "1" "90" "12" "103246698" "103246698" "del" "8.13015E-6" "00006" "PAH_000549" "g.103246698del" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A246fsdelC" "" "Germline" "" "" "0" "" "" "g.102852920del" "" "pathogenic (recessive)" "" "0000904967" "1" "90" "12" "103246698" "103246698" "del" "8.13015E-6" "00006" "PAH_000549" "g.103246698del" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A246fsdelC" "" "Germline" "" "" "0" "" "" "g.102852920del" "" "pathogenic (recessive)" "" "0000904968" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A403V" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904969" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904970" "2" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "2/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "A403V" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000904971" "2" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "4/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "L348V" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000904972" "2" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "18/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "L48S" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000904973" "2" "90" "12" "103246604" "103246614" "del" "0" "00006" "PAH_000492" "g.103246604_103246614del" "8/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "K274fsdel11bp" "" "Germline" "" "" "0" "" "" "g.102852826_102852836del" "" "pathogenic (recessive)" "" "0000904974" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904975" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "44/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904976" "21" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904977" "21" "50" "12" "103249073" "103249073" "subst" "0" "00006" "PAH_000550" "g.103249073C>G" "1/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "E183Q" "" "Germline" "" "" "0" "" "" "g.102855295C>G" "" "VUS" "" "0000904978" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000904979" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904980" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "5/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000904981" "2" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "44/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "IVS12+1G>A" "" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000904982" "2" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "17/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "P281L" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000904983" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904984" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904985" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904986" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904987" "2" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "221/580 chromosomes PKU" "{PMID:Hennermann 2000:10679941}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904988" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904989" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "44/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904990" "1" "90" "12" "103260381" "103260381" "subst" "0" "00006" "PAH_000552" "g.103260381A>G" "33/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "Y168H" "" "Germline" "" "" "0" "" "" "g.102866603A>G" "" "pathogenic (recessive)" "" "0000904991" "1" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "23/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "Y414C" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000904992" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "19/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904993" "1" "90" "12" "103246713" "103246713" "subst" "0.000166812" "00006" "PAH_000090" "g.103246713C>T" "19/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R241Q" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic (recessive)" "" "0000904994" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "18/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904995" "1" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "17/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000904996" "1" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "9/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000904997" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "8/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000904998" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "8/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000904999" "1" "90" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "8/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS2nt5G>C" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "pathogenic (recessive)" "" "0000905000" "1" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "7/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R261X" "" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000905001" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000905002" "1" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000905003" "1" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R158Q" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000905004" "1" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS2nt5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000905005" "1" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS4nt5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000905006" "1" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "4/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000905007" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "4/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "L48S" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000905008" "1" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "4/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R261X" "" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000905009" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "3/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "L48S" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000905010" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "3/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "I65T" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000905011" "1" "90" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "3/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS2nt5G>A" "" "Germline" "" "" "0" "" "" "g.102912786C>T" "" "pathogenic (recessive)" "" "0000905012" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "3/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R261Q" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000905013" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "4/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000905014" "3" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS4nt5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000905015" "1" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243X" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000905016" "1" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000905017" "1" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS8nt7A>G" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000905018" "1" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243X" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000905019" "1" "90" "12" "103306622" "103306624" "del" "0" "00006" "PAH_000216" "g.103306622_103306624del" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "delF39" "" "Germline" "" "" "0" "" "" "g.102912844_102912846del" "" "pathogenic (recessive)" "" "0000905020" "1" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS4nt5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000905021" "1" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000905022" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "I65T" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000905023" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "L48S" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000905024" "1" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R111X" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000905025" "1" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS4nt5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000905026" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "4/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R408W" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000905027" "1" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "2/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "I65T" "no variant 2nd chromosome" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000905028" "1" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243X" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000905029" "1" "90" "12" "103271316" "103271316" "subst" "0" "00006" "PAH_000556" "g.103271316G>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "P122Q" "" "Germline" "" "" "0" "" "" "g.102877538G>T" "" "pathogenic (recessive)" "" "0000905030" "1" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "1/580 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"subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS4nt5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000905035" "3" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "L197fsdel22bp" "" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic (recessive)" "" "0000905036" "1" "90" "12" "103271316" "103271316" "subst" "0" "00006" "PAH_000556" "g.103271316G>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "P122Q" "" "Germline" "" "" "0" "" "" "g.102877538G>T" "" "pathogenic (recessive)" "" "0000905037" "3" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" 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PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS4nt5G>T" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "pathogenic (recessive)" "" "0000905046" "1" "90" "12" "103237460" "103237461" "del" "0" "00006" "PAH_000540" "g.103237460_103237461del" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "1162–1163TGdel" "" "Germline" "" "" "0" "" "" "g.102843682_102843683del" "" "pathogenic (recessive)" "" "0000905047" "1" "90" "12" "103246602" "103246602" "del" "0" "00006" "PAH_000428" "g.103246602del" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "P279fsdelC" "" "Germline" "" "" "0" "" "" "g.102852824del" "" "pathogenic (recessive)" "" "0000905048" "2" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "D415N" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000905049" "2" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "E390G" "" "Germline" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000905050" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000905051" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000905052" "2" "90" "12" "103246713" "103246713" "subst" "0.000166812" "00006" "PAH_000090" "g.103246713C>T" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R241H" "" "Germline" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic (recessive)" "" "0000905053" "2" "90" "12" 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"221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000905073" "2" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "44/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R261X" "" "Germline" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000905074" "2" "90" "12" "103260440" "103260440" "subst" "0" "00006" "PAH_000553" "g.103260440C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "G148D" "" "Germline" "" "" "0" "" "" "g.102866662C>T" "" "pathogenic (recessive)" "" "0000905075" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "1/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "I65T" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000905076" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000905077" "2" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243X" "" "Germline" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000905078" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "5/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R158Q" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000905079" "2" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "44/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS7nt1G-A" "" "Germline" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic (recessive)" "" "0000905080" "2" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "17/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R261Q" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000905081" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000905082" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000905083" "2" "90" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R158Q" "" "Germline" "" "" "0" "" "" "g.102866632C>T" "" "pathogenic (recessive)" "" "0000905084" "2" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "R243Q" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic (recessive)" "" "0000905085" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "221/580 chromosomes PKU" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000905086" "2" "90" "12" "103246594" "103246594" "subst" "4.06445E-6" "00006" "PAH_000070" "g.103246594G>A" "" "{PMID:Perez-Duenas 2004:15589814}" "" "P281S" "" "Germline" "" "" "0" "" "" "g.102852816G>A" "" "pathogenic (recessive)" "" "0000905087" "2" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Perez-Duenas 2004:15589814}" "" "S349P" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000905088" "2" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Perez-Duenas 2004:15589814}" "" "I65T" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000905089" "2" "90" "12" "103245464" "103245464" "subst" "1.2208E-5" "00006" "PAH_000180" "g.103245464C>T" "" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS8nt+1g>a" "" "Germline" "" "" "0" "" "" "g.102851686C>T" "" "pathogenic (recessive)" "" "0000905090" "2" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Perez-Duenas 2004:15589814}" "" "IVS10" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000905091" "2" "90" "12" "103237460" "103237461" "del" "0" "00006" "PAH_000540" "g.103237460_103237461del" "" "{PMID:Perez-Duenas 2004:15589814}" "" "1162–1163TG, delN61/N62/T63fsdelstop" "" "Germline" "" "" "0" "" "" "g.102843682_102843683del" "" "pathogenic (recessive)" "" "0000905092" "2" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Perez-Duenas 2004:15589814}" "" "V388M" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000906027" "3" "90" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.102843706G>A" "" "pathogenic (recessive)" "" "0000906028" "3" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic (recessive)" "" "0000906029" "3" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "1/73,755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000906086" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000906109" "1" "90" "12" "103237534" "103237534" "del" "0" "00006" "PAH_000289" "g.103237534del" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "1089delG" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102843756del" "" "pathogenic (recessive)" "" "0000906110" "1" "90" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102843706G>A" "" "pathogenic (recessive)" "" "0000906111" "1" "90" "12" "103249091" "103249091" "subst" "1.2198E-5" "00006" "PAH_000551" "g.103249091C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102855313C>T" "" "pathogenic (recessive)" "" "0000906112" "1" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000906113" "1" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000906114" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000906115" "1" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000906116" "1" "90" "12" "103288604" "103288604" "subst" "7.71693E-5" "00006" "PAH_000166" "g.103288604G>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102894826G>T" "" "pathogenic (recessive)" "" "0000906117" "1" "90" "12" "103260377" "103260377" "subst" "0.000304916" "00006" "PAH_000113" "g.103260377C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102866599C>T" "" "pathogenic (recessive)" "" "0000906144" "2" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "165delT" "" "Germline" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000906167" "0" "90" "12" "103288639" "103288639" "subst" "0" "00006" "PAH_000558" "g.103288639C>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102894861C>A" "" "pathogenic (recessive)" "" "0000906168" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic (recessive)" "" "0000906169" "0" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102852923A>G" "" "pathogenic (recessive)" "" "0000906170" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000906171" "0" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "De novo" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic (recessive)" "" "0000906172" "0" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102852923A>G" "" "pathogenic (recessive)" "" "0000906173" "0" "90" "12" "103249091" "103249091" "subst" "1.2198E-5" "00006" "PAH_000551" "g.103249091C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102855313C>T" "" "pathogenic (recessive)" "" "0000906174" "0" "90" "12" "103249091" "103249091" "subst" "1.2198E-5" "00006" "PAH_000551" "g.103249091C>T" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102855313C>T" "" "pathogenic (recessive)" "" "0000906175" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "1/73755 controls" "{PMID:Reiner 2022:36459106}" "" "" "combination alleles not determined" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000906305" "0" "90" "12" "103288512" "103288512" "subst" "0" "00006" "PAH_001425" "g.103288512C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1}" "" "IVS3+1G>A" "" "Unknown" "" "" "0" "" "" "g.102894734C>T" "" "pathogenic (recessive)" "" "0000906306" "0" "50" "12" "103271350" "103271350" "subst" "4.06947E-6" "00006" "PAH_001412" "g.103271350G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:2}" "" "IVS3-22C>A" "" "Unknown" "" "" "0" "" "" "g.102877572G>T" "" "VUS" "" "0000906307" "0" "50" "12" "103271334" "103271334" "subst" "0" "00006" "PAH_001406" "g.103271334A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:3}" "" "IVS3-6T>A" "" "Unknown" "" "" "0" "" "" "g.102877556A>T" "" "VUS" "" "0000906308" "0" "90" "12" "103271329" "103271329" "subst" "0" "00006" "PAH_000519" "g.103271329C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:4}" "" "IVS3-1G>A, Val118GlyinsArgCysLeuCysValSerMet" "" "Unknown" "" "" "0" "" "" "g.102877551C>T" "" "pathogenic (recessive)" "" "0000906309" "0" "90" "12" "103271329" "103271329" "subst" "0" "00006" "PAH_001401" "g.103271329C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:5}" "" "IVS3-1G>C" "" "Unknown" "" "" "0" "" "" "g.102877551C>G" "" "pathogenic (recessive)" "" "0000906310" "0" "90" "12" "103271329" "103271329" "subst" "0" "00006" "PAH_001402" "g.103271329C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:6}" "" "IVS3-1G>T" "" "Unknown" "" "" "0" "" "" "g.102877551C>A" "" "pathogenic (recessive)" "" "0000906311" "0" "90" "12" "103245464" "103271329" "del" "0" "00006" "PAH_000965" "g.(103240730_103245464)_(103271329_103288512)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:7}" "" "del ex4-8 c.353-?_912+?del" "" "Unknown" "" "" "0" "" "" "g.(102846952_102851686)_(102877551_102894734)del" "" "pathogenic (recessive)" "" "0000906312" "0" "90" "12" "103271326" "103271326" "subst" "0.000288475" "00006" "PAH_000119" "g.103271326G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:8} with 3D model" "" "" "allelic phenotype value 6.7, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102877548G>A" "" "pathogenic (recessive)" "" "0000906313" "0" "90" "12" "103271323" "103271323" "del" "0" "00006" "PAH_001396" "g.103271323del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:9}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877545del" "" "pathogenic (recessive)" "" "0000906314" "0" "90" "12" "103271322" "103271322" "subst" "0" "00006" "PAH_001395" "g.103271322C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:10}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877544C>T" "" "pathogenic (recessive)" "" "0000906315" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:11}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic (recessive)" "" "0000906316" "0" "90" "12" "103288525" "103288528" "del" "0" "00006" "PAH_001433" "g.103288525_103288528del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:13}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894747_102894750del" "" "pathogenic (recessive)" "" "0000906317" "0" "90" "12" "103288522" "103288525" "del" "0" "00006" "PAH_001431" "g.103288522_103288525del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:14}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894744_102894747del" "" "pathogenic (recessive)" "" "0000906318" "0" "90" "12" "103288515" "103288515" "del" "0" "00006" "PAH_001427" "g.103288515del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:15}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894737del" "" "pathogenic (recessive)" "" "0000906319" "0" "50" "12" "103249109" "103249109" "subst" "0" "00006" "PAH_001279" "g.103249109C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:16} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855331C>T" "" "VUS" "" "0000906320" "0" "50" "12" "103249108" "103249108" "subst" "0" "00006" "PAH_001277" "g.103249108C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:17} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855330C>G" "" "VUS" "" "0000906321" "0" "90" "12" "103249106" "103249106" "subst" "0" "00006" "PAH_001275" "g.103249106G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:18}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855328G>A" "" "pathogenic (recessive)" "" "0000906322" "0" "50" "12" "103249103" "103249103" "subst" "0" "00006" "PAH_001272" "g.103249103G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:19} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855325G>T" "" "VUS" "" "0000906323" "0" "90" "12" "103249100" "103249100" "subst" "0" "00006" "PAH_000350" "g.103249100T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:20} with 3D model" "" "" "allelic phenotype value 8.8, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855322T>C" "" "pathogenic (recessive)" "" "0000906324" "0" "90" "12" "103249099" "103249099" "subst" "4.06732E-6" "00006" "PAH_000112" "g.103249099A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:21} with 3D model" "" "" "allelic phenotype value 3.8, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102855321A>T" "" "pathogenic (recessive)" "" "0000906325" "0" "50" "12" "103249099" "103249099" "subst" "0" "00006" "PAH_000111" "g.103249099A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:22} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855321A>G" "" "VUS" "" "0000906326" "0" "50" "12" "103249097" "103249097" "subst" "0" "00006" "PAH_001270" "g.103249097G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:23} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855319G>C" "" "VUS" "" "0000906327" "0" "90" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:24} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855316G>A" "" "pathogenic (recessive)" "" "0000906328" "0" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "00006" "PAH_000210" "g.103249093C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:25} with 3D model" "" "" "allelic phenotype value 9.7, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855315C>A" "" "pathogenic (recessive)" "" "0000906329" "0" "90" "12" "103249093" "103249093" "subst" "2.8465E-5" "00006" "PAH_001267" "g.103249093C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:26} with 3D model" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855315C>T" "" "pathogenic (recessive)" "" "0000906330" "0" "50" "12" "103249093" "103249093" "subst" "0" "00006" "PAH_001268" "g.103249093C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:27} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855315C>G" "" "VUS" "" "0000906331" "0" "90" "12" "103249091" "103249091" "subst" "2.8462E-5" "00006" "PAH_000349" "g.103249091C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:28} with 3D model" "" "" "allelic phenotype value 7.5, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102855313C>G" "" "pathogenic (recessive)" "" "0000906332" "0" "90" "12" "103249091" "103249091" "subst" "1.2198E-5" "00006" "PAH_000551" "g.103249091C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:29} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855313C>T" "" "pathogenic (recessive)" "" "0000906333" "0" "50" "12" "103249090" "103249090" "subst" "0" "00006" "PAH_001266" "g.103249090A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:30} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855312A>G" "" "VUS" "" "0000906334" "0" "90" "12" "103249087" "103249087" "subst" "6.50444E-5" "00006" "PAH_000107" "g.103249087T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:31} with 3D model" "" "" "allelic phenotype value 7.4, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102855309T>C" "" "pathogenic (recessive)" "" "0000906335" "0" "50" "12" "103249087" "103249087" "subst" "0" "00006" "PAH_001264" "g.103249087T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:32} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855309T>A" "" "VUS" "" "0000906336" "0" "50" "12" "103249085" "103249085" "subst" "0" "00006" "PAH_001263" "g.103249085A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:33} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855307A>T" "" "VUS" "" "0000906337" "0" "50" "12" "103249085" "103249085" "subst" "0" "00006" "PAH_000506" "g.103249085A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:34} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855307A>G" "" "VUS" "" "0000906338" "0" "50" "12" "103249076" "103249076" "subst" "0" "00006" "PAH_000448" "g.103249076C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:35} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855298C>T" "" "VUS" "" "0000906339" "0" "50" "12" "103249075" "103249075" "subst" "4.06478E-6" "00006" "PAH_001258" "g.103249075T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:36} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855297T>C" "" "VUS" "" "0000906340" "0" "50" "12" "103249073" "103249073" "subst" "0" "00006" "PAH_000550" "g.103249073C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:37} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855295C>G" "" "VUS" "" "0000906341" "0" "50" "12" "103249072" "103249072" "subst" "0" "00006" "PAH_001255" "g.103249072T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:38} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855294T>C" "" "VUS" "" "0000906342" "0" "90" "12" "103249072" "103249072" "del" "0" "00006" "PAH_001256" "g.103249072del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:39}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855294del" "" "pathogenic (recessive)" "" "0000906343" "0" "90" "12" "103249067" "103249067" "del" "0" "00006" "PAH_001253" "g.103249067del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:40}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855289del" "" "pathogenic (recessive)" "" "0000906344" "0" "90" "12" "103249062" "103249062" "del" "0" "00006" "PAH_001251" "g.103249062del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:41}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855284del" "" "pathogenic (recessive)" "" "0000906345" "0" "90" "12" "103249061" "103249062" "del" "2.43841E-5" "00006" "PAH_000505" "g.103249061_103249062del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:42}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855283_102855284del" "" "pathogenic (recessive)" "" "0000906346" "0" "50" "12" "103249061" "103249061" "subst" "0" "00006" "PAH_001250" "g.103249061A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:43} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855283A>G" "" "VUS" "" "0000906347" "0" "90" "12" "103249060" "103249060" "subst" "0" "00006" "PAH_000106" "g.103249060C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:44} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855282C>T" "" "pathogenic (recessive)" "" "0000906348" "0" "50" "12" "103249059" "103249059" "subst" "0" "00006" "PAH_001248" "g.103249059C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:45} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855281C>G" "" "VUS" "" "0000906349" "0" "90" "12" "103249059" "103249059" "subst" "8.12803E-6" "00006" "PAH_000105" "g.103249059C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:46} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855281C>T" "" "pathogenic (recessive)" "" "0000906350" "0" "90" "12" "103249057" "103249057" "subst" "0" "00006" "PAH_001245" "g.103249057C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:47} with 3D model" "" "" "allelic phenotype value 3.8, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102855279C>T" "" "pathogenic (recessive)" "" "0000906351" "0" "90" "12" "103249060" "103249060" "del" "0" "00006" "PAH_001249" "g.103249060del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:48}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855282del" "" "pathogenic (recessive)" "" "0000906352" "0" "90" "12" "103249051" "103249051" "subst" "0" "00006" "PAH_000104" "g.103249051A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:49} with 3D model" "" "" "allelic phenotype value 7.1, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102855273A>G" "" "pathogenic (recessive)" "" "0000906353" "0" "50" "12" "103271320" "103271320" "subst" "0" "00006" "PAH_001393" "g.103271320A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:50} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877542A>G" "" "VUS" "" "0000906354" "0" "50" "12" "103271316" "103271316" "subst" "0" "00006" "PAH_000556" "g.103271316G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:51} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877538G>T" "" "VUS" "" "0000906355" "0" "50" "12" "103271313" "103271313" "subst" "0" "00006" "PAH_001390" "g.103271313C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:52} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877535C>A" "" "VUS" "" "0000906356" "0" "50" "12" "103271310" "103271310" "subst" "4.06194E-6" "00006" "PAH_001389" "g.103271310G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:53} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877532G>A" "" "VUS" "" "0000906357" "0" "50" "12" "103271296" "103271296" "subst" "0" "00006" "PAH_000176" "g.103271296C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:54} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877518C>A" "" "VUS" "" "0000906358" "0" "50" "12" "103271295" "103271295" "subst" "0" "00006" "PAH_001383" "g.103271295T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:55} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877517T>A" "" "VUS" "" "0000906359" "0" "90" "12" "103271295" "103271295" "subst" "4.06134E-6" "00006" "PAH_000370" "g.103271295T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:56} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102877517T>C" "" "pathogenic (recessive)" "" "0000906360" "0" "50" "12" "103271286" "103271286" "subst" "0" "00006" "PAH_001381" "g.103271286G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:57} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877508G>A" "" "VUS" "" "0000906361" "0" "90" "12" "103271282" "103271285" "del" "0" "00006" "PAH_000369" "g.103271282_103271285del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:58}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877504_102877507del" "" "pathogenic (recessive)" "" "0000906362" "0" "90" "12" "103271281" "103271281" "subst" "0" "00006" "PAH_001379" "g.103271281G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:59}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877503G>A" "" "pathogenic (recessive)" "" "0000906363" "0" "50" "12" "103271270" "103271270" "subst" "0" "00006" "PAH_001378" "g.103271270G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:60} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877492G>A" "" "VUS" "" "0000906364" "0" "90" "12" "103271253" "103271253" "subst" "0" "00006" "PAH_000517" "g.103271253T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:61} with 3D model" "" "" "allelic phenotype value 5.0, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102877475T>C" "" "pathogenic (recessive)" "" "0000906365" "0" "90" "12" "103271247" "103271247" "subst" "6.4973E-5" "00006" "PAH_000459" "g.103271247T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:62} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102877469T>A" "" "pathogenic (recessive)" "" "0000906366" "0" "90" "12" "103271245" "103271245" "subst" "0" "00006" "PAH_001370" "g.103271245G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:63} with 3D model" "" "" "allelic phenotype value 3.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102877467G>A" "" "pathogenic (recessive)" "" "0000906367" "0" "50" "12" "103271242" "103271242" "subst" "4.06085E-6" "00006" "PAH_000213" "g.103271242G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:64} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877464G>A" "" "VUS" "" "0000906368" "0" "90" "12" "103271241" "103271241" "subst" "0" "00006" "PAH_001368" "g.103271241G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:65} with 3D model" "" "" "allelic phenotype value 3.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102877463G>A" "" "pathogenic (recessive)" "" "0000906369" "0" "90" "12" "103246592" "103260442" "del" "0" "00006" "PAH_001020" "g.(103245535_103246592)_(103260442_103271239)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:66}" "" "del ex5-7 c.442+?_842-?del" "" "Unknown" "" "" "0" "" "" "g.(102851757_102852814)_(102866664_102877461)del" "" "pathogenic (recessive)" "" "0000906370" "0" "90" "12" "103271239" "103271239" "del" "0" "00006" "PAH_001363" "g.103271239del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:67}" "" "IVS4+1delGT" "" "Unknown" "" "" "0" "" "" "g.102877461del" "" "pathogenic (recessive)" "" "0000906371" "0" "90" "12" "103271239" "103271239" "subst" "4.06085E-6" "00006" "PAH_000009" "g.103271239C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:68}" "" "IVS4+1G>A" "" "Unknown" "" "" "0" "" "" "g.102877461C>T" "" "pathogenic (recessive)" "" "0000906372" "0" "90" "12" "103271239" "103271240" "del" "0" "00006" "PAH_001365" "g.103271239_103271240del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:69}" "" "IVS4+2delTG" "" "Unknown" "" "" "0" "" "" "g.102877461_102877462del" "" "pathogenic (recessive)" "" "0000906373" "0" "90" "12" "103271238" "103271238" "subst" "0" "00006" "PAH_001360" "g.103271238A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:70}" "" "IVS4+2T>G" "" "Unknown" "" "" "0" "" "" "g.102877460A>C" "" "pathogenic (recessive)" "" "0000906374" "0" "90" "12" "103271238" "103271238" "subst" "0" "00006" "PAH_001361" "g.103271238A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:71}" "" "IVS4+2T>A" "" "Unknown" "" "" "0" "" "" "g.102877460A>T" "" "pathogenic (recessive)" "" "0000906375" "0" "50" "12" "103271237" "103271237" "subst" "0" "00006" "PAH_001359" "g.103271237C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:72}" "" "IVS4+3G>C" "" "Unknown" "" "" "0" "" "" "g.102877459C>G" "" "VUS" "" "0000906376" "0" "50" "12" "103271236" "103271236" "subst" "0" "00006" "PAH_001358" "g.103271236T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:73}" "" "IVS4+4A>G" "" "Unknown" "" "" "0" "" "" "g.102877458T>C" "" "VUS" "" "0000906377" "0" "50" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:74}" "" "IVS4+5G>T" "" "Unknown" "" "" "0" "" "" "g.102877457C>A" "" "VUS" "" "0000906378" "0" "90" "12" "103271235" "103271235" "subst" "0" "00006" "PAH_000367" "g.103271235C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:75}" "" "IVS4+5G>A" "allelic phenotype value 4.2, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102877457C>T" "" "pathogenic (recessive)" "" "0000906379" "0" "50" "12" "103271234" "103271234" "subst" "0" "00006" "PAH_001356" "g.103271234A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:76}" "" "IVS4+6T>C" "" "Unknown" "" "" "0" "" "" "g.102877456A>G" "" "VUS" "" "0000906380" "0" "50" "12" "103271234" "103271234" "subst" "4.06081E-6" "00006" "PAH_001357" "g.103271234A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:77}" "" "IVS4+6T>A" "" "Unknown" "" "" "0" "" "" "g.102877456A>T" "" "VUS" "" "0000906381" "0" "50" "12" "103271193" "103271193" "subst" "0.374106" "00006" "PAH_000366" "g.103271193G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:78}" "" "IVS4+47C>T" "" "Unknown" "" "" "0" "" "" "g.102877415G>A" "" "VUS" "" "0000906382" "0" "90" "12" "103260446" "103260446" "subst" "2.43942E-5" "00006" "PAH_000162" "g.103260446G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:79}" "" "IVS4-5C>G" "allelic phenotype value 6.2, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102866668G>C" "" "pathogenic (recessive)" "" "0000906383" "0" "90" "12" "103260443" "103260443" "subst" "0" "00006" "PAH_000458" "g.103260443T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:80}" "" "IVS4-2A>C" "" "Unknown" "" "" "0" "" "" "g.102866665T>G" "" "pathogenic (recessive)" "" "0000906384" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:81}" "" "IVS4-1G>A" "" "Unknown" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic (recessive)" "" "0000906385" "0" "90" "12" "103248913" "103260442" "del" "0" "00006" "PAH_001146" "g.(103246729_103248913)_(103260442_103271239)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:83}" "" "del ex5-6 c.442-?_706+?del" "" "Unknown" "" "" "0" "" "" "g.(102852951_102855135)_(102866664_102877461)del" "" "pathogenic (recessive)" "" "0000906386" "0" "50" "12" "103260441" "103260441" "subst" "8.12955E-6" "00006" "PAH_000554" "g.103260441C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:84} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866663C>T" "" "VUS" "" "0000906387" "0" "90" "12" "103259598" "103260548" "del" "0" "00006" "PAH_000353" "g.103259598_103260548del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:85}" "" "c.442-102_509+781del951, EX5del955, g.50448_51402del955" "allelic phenotype value 0.1, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102865820_102866770del" "" "pathogenic (recessive)" "" "0000906388" "0" "50" "12" "103260440" "103260440" "subst" "0" "00006" "PAH_000553" "g.103260440C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:86} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866662C>T" "" "VUS" "" "0000906389" "0" "50" "12" "103260432" "103260432" "subst" "0" "00006" "PAH_001334" "g.103260432C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:87} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866654C>G" "" "VUS" "" "0000906390" "0" "50" "12" "103260431" "103260431" "subst" "0" "00006" "PAH_000513" "g.103260431T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:88} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866653T>C" "" "VUS" "" "0000906391" "0" "50" "12" "103260430" "103260430" "subst" "0" "00006" "PAH_001332" "g.103260430A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:89} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866652A>T" "" "VUS" "" "0000906392" "0" "50" "12" "103260423" "103260423" "subst" "0" "00006" "PAH_001329" "g.103260423A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:90} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866645A>G" "" "VUS" "" "0000906393" "0" "50" "12" "103260423" "103260423" "subst" "0" "00006" "PAH_001330" "g.103260423A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:91} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866645A>T" "" "VUS" "" "0000906394" "0" "50" "12" "103260422" "103260422" "subst" "0" "00006" "PAH_001327" "g.103260422T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:92} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866644T>C" "" "VUS" "" "0000906395" "0" "90" "12" "103260419" "103260419" "subst" "2.0316E-5" "00006" "PAH_000243" "g.103260419C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:93} with 3D model" "" "" "allelic phenotype value 9.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102866641C>T" "" "pathogenic (recessive)" "" "0000906396" "0" "50" "12" "103260419" "103260419" "subst" "0" "00006" "PAH_000457" "g.103260419C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:94} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866641C>G" "" "VUS" "" "0000906397" "0" "50" "12" "103260417" "103260417" "subst" "0" "00006" "PAH_000257" "g.103260417C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:95} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866639C>G" "" "VUS" "" "0000906398" "0" "50" "12" "103260413" "103260413" "subst" "0" "00006" "PAH_001320" "g.103260413C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:96} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866635C>A" "" "VUS" "" "0000906399" "0" "50" "12" "103260413" "103260413" "subst" "0" "00006" "PAH_000363" "g.103260413C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:97} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866635C>T" "" "VUS" "" "0000906400" "0" "50" "12" "103260413" "103260413" "subst" "0" "00006" "PAH_001321" "g.103260413C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:98} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866635C>G" "" "VUS" "" "0000906401" "0" "50" "12" "103260412" "103260413" "delins" "0" "00006" "PAH_001319" "g.103260412_103260413delinsGT" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:99} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866634_102866635delinsGT" "" "VUS" "" "0000906402" "0" "50" "12" "103260412" "103260412" "subst" "0" "00006" "PAH_000362" "g.103260412T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:100} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866634T>G" "" "VUS" "" "0000906403" "0" "50" "12" "103260411" "103260411" "subst" "2.84416E-5" "00006" "PAH_000212" "g.103260411G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:101} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866633G>A" "" "VUS" "" "0000906404" "0" "50" "12" "103260410" "103260410" "subst" "8.12565E-6" "00006" "PAH_001317" "g.103260410C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:102} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866632C>G" "" "VUS" "" "0000906405" "0" "50" "12" "103260410" "103260410" "subst" "0.000101571" "00006" "PAH_000115" "g.103260410C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:103} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866632C>T" "" "VUS" "" "0000906406" "0" "50" "12" "103260404" "103260404" "subst" "0" "00006" "PAH_001314" "g.103260404T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:104} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866626T>G" "" "VUS" "" "0000906407" "0" "90" "12" "103260401" "103260401" "subst" "0" "00006" "PAH_000360" "g.103260401A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:105} with 3D model" "" "" "allelic phenotype value 3.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102866623A>G" "" "pathogenic (recessive)" "" "0000906408" "0" "50" "12" "103260393" "103260393" "subst" "1.62516E-5" "00006" "PAH_000359" "g.103260393T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:106} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866615T>C" "" "VUS" "" "0000906409" "0" "50" "12" "103260392" "103260392" "subst" "0" "00006" "PAH_000455" "g.103260392A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:107} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866614A>G" "" "VUS" "" "0000906410" "0" "50" "12" "103260390" "103260390" "subst" "4.06312E-6" "00006" "PAH_000454" "g.103260390C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:108} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866612C>G" "" "VUS" "" "0000906411" "0" "50" "12" "103260390" "103260390" "subst" "4.06312E-6" "00006" "PAH_000453" "g.103260390C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:109} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866612C>T" "" "VUS" "" "0000906412" "0" "50" "12" "103260389" "103260389" "subst" "0" "00006" "PAH_001310" "g.103260389G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:110} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866611G>T" "" "VUS" "" "0000906413" "0" "90" "12" "103260385" "103260385" "subst" "0" "00006" "PAH_001308" "g.103260385G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:111}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866607G>T" "" "pathogenic (recessive)" "" "0000906414" "0" "50" "12" "103260383" "103260383" "subst" "0.00101169" "00006" "PAH_000001" "g.103260383T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:112} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866605T>C" "" "VUS" "" "0000906415" "0" "90" "12" "103260383" "103260383" "subst" "4.06303E-5" "00006" "PAH_000452" "g.103260383T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:113} with 3D model" "" "" "allelic phenotype value 5.7, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102866605T>A" "" "pathogenic (recessive)" "" "0000906416" "0" "90" "12" "103260381" "103260381" "subst" "0" "00006" "PAH_000552" "g.103260381A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:114} with 3D model" "" "" "allelic phenotype value 6.7, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102866603A>G" "" "pathogenic (recessive)" "" "0000906417" "0" "90" "12" "103260380" "103260380" "del" "4.06306E-6" "00006" "PAH_001306" "g.103260380del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:115}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866602del" "" "pathogenic (recessive)" "" "0000906418" "0" "90" "12" "103260377" "103260377" "subst" "0.000304916" "00006" "PAH_000113" "g.103260377C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:116} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102866599C>T" "" "pathogenic (recessive)" "" "0000906419" "0" "90" "12" "103260375" "103260375" "subst" "2.0315E-5" "00006" "PAH_000211" "g.103260375G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:117} with 3D model" "" "" "allelic phenotype value 9.4, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102866597G>C" "" "pathogenic (recessive)" "" "0000906420" "0" "50" "12" "103260374" "103260374" "subst" "0" "00006" "PAH_000510" "g.103260374T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:118} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866596T>C" "" "VUS" "" "0000906421" "0" "90" "12" "103260373" "103260373" "del" "0" "00006" "PAH_001302" "g.103260373del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:119}" "" "IVS5+1delG" "" "Unknown" "" "" "0" "" "" "g.102866595del" "" "pathogenic (recessive)" "" "0000906422" "0" "90" "12" "103260373" "103260373" "subst" "4.06319E-6" "00006" "PAH_000449" "g.103260373C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:120}" "" "IVS5+1G>A" "" "Unknown" "" "" "0" "" "" "g.102866595C>T" "" "pathogenic (recessive)" "" "0000906423" "0" "90" "12" "103260369" "103260369" "del" "0" "00006" "PAH_001301" "g.103260369del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:121}" "" "IVS5+5del" "" "Unknown" "" "" "0" "" "" "g.102866591del" "" "pathogenic (recessive)" "" "0000906424" "0" "50" "12" "103260320" "103260320" "subst" "0" "00006" "PAH_001297" "g.103260320G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:122}" "" "IVS5+54C>G" "" "Unknown" "" "" "0" "" "" "g.102866542G>C" "" "VUS" "" "0000906425" "0" "90" "12" "103248955" "103249131" "del" "0" "00006" "PAH_001183" "g.103248955_103249131del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:124}" "" "IVS5-19_667del" "" "Unknown" "" "" "0" "" "" "g.102855177_102855353del" "" "pathogenic (recessive)" "" "0000906426" "0" "50" "12" "103249116" "103249116" "subst" "0" "00006" "PAH_001286" "g.103249116A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:125}" "" "IVS5-6T>G" "" "Unknown" "" "" "0" "" "" "g.102855338A>C" "" "VUS" "" "0000906427" "0" "50" "12" "103249116" "103249116" "subst" "0" "00006" "PAH_001287" "g.103249116A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:126}" "" "IVS5-6T>A" "" "Unknown" "" "" "0" "" "" "g.102855338A>T" "" "VUS" "" "0000906428" "0" "90" "12" "103249112" "103249112" "subst" "0" "00006" "PAH_001284" "g.103249112T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:127}" "" "IVS5-2A>G" "" "Unknown" "" "" "0" "" "" "g.102855334T>C" "" "pathogenic (recessive)" "" "0000906429" "0" "90" "12" "103248913" "103249111" "del" "0" "00006" "PAH_000246" "g.(103246729_103248913)_(103249111_103260373)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:128}" "" "del ex6 c.510-?_706+?del" "" "Unknown" "" "" "0" "" "" "g.(102852951_102855135)_(102855333_102866595)del" "" "pathogenic (recessive)" "" "0000906430" "0" "50" "12" "103249110" "103249110" "subst" "4.06947E-6" "00006" "PAH_001281" "g.103249110A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:129} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855332A>T" "" "VUS" "" "0000906431" "0" "90" "12" "103249042" "103249042" "subst" "0" "00006" "PAH_000103" "g.103249042G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:130} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855264G>A" "" "pathogenic (recessive)" "" "0000906432" "0" "90" "12" "103249041" "103249042" "del" "0" "00006" "PAH_000446" "g.103249041_103249042del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:131}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855263_102855264del" "" "pathogenic (recessive)" "" "0000906433" "0" "50" "12" "103249039" "103249039" "subst" "0" "00006" "PAH_001234" "g.103249039A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:132} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855261A>C" "" "VUS" "" "0000906434" "0" "90" "12" "103249039" "103249039" "subst" "2.03178E-5" "00006" "PAH_000445" "g.103249039A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:133} with 3D model" "" "" "allelic phenotype value 1.2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102855261A>G" "" "pathogenic (recessive)" "" "0000906435" "0" "50" "12" "103249034" "103249034" "subst" "0" "00006" "PAH_001232" "g.103249034A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:134} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855256A>T" "" "VUS" "" "0000906436" "0" "90" "12" "103249013" "103249035" "del" "0" "00006" "PAH_001218" "g.103249013_103249035del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:135}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855235_102855257del" "" "pathogenic (recessive)" "" "0000906437" "0" "50" "12" "103249029" "103249029" "subst" "0" "00006" "PAH_001227" "g.103249029C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:137} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855251C>G" "" "VUS" "" "0000906438" "0" "90" "12" "103249007" "103249029" "del" "0" "00006" "PAH_001210" "g.103249007_103249029del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:138}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855229_102855251del" "" "pathogenic (recessive)" "" "0000906439" "0" "90" "12" "103249026" "103249026" "subst" "0" "00006" "PAH_001225" "g.103249026A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:141}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855248A>C" "" "pathogenic (recessive)" "" "0000906440" "0" "90" "12" "103249025" "103249025" "dup" "0" "00006" "PAH_001224" "g.103249025dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:142}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855247dup" "" "pathogenic (recessive)" "" "0000906441" "0" "90" "12" "103249019" "103249019" "subst" "4.06342E-6" "00006" "PAH_001222" "g.103249019G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:143} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855241G>A" "" "pathogenic (recessive)" "" "0000906442" "0" "50" "12" "103249018" "103249018" "subst" "0" "00006" "PAH_000503" "g.103249018T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:144} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855240T>C" "" "VUS" "" "0000906443" "0" "50" "12" "103249017" "103249017" "subst" "0" "00006" "PAH_000502" "g.103249017A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:145} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855239A>C" "" "VUS" "" "0000906444" "0" "50" "12" "103249016" "103249016" "subst" "0" "00006" "PAH_000347" "g.103249016C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:146} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855238C>T" "" "VUS" "" "0000906445" "0" "50" "12" "103249015" "103249015" "subst" "0" "00006" "PAH_000242" "g.103249015G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:147} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855237G>A" "" "VUS" "" "0000906446" "0" "50" "12" "103249012" "103249012" "subst" "0" "00006" "PAH_000102" "g.103249012C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:148} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855234C>T" "" "VUS" "" "0000906447" "0" "50" "12" "103249011" "103249011" "subst" "0" "00006" "PAH_001214" "g.103249011G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:149} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855233G>C" "" "VUS" "" "0000906448" "0" "50" "12" "103249011" "103249011" "subst" "0.00056072" "00006" "PAH_000219" "g.103249011G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:150} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855233G>A" "" "VUS" "" "0000906449" "0" "90" "12" "103249008" "103249008" "subst" "4.06349E-6" "00006" "PAH_000501" "g.103249008A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:152} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855230A>C" "" "pathogenic (recessive)" "" "0000906450" "0" "50" "12" "103249007" "103249007" "subst" "0" "00006" "PAH_001209" "g.103249007C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:153} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855229C>T" "" "VUS" "" "0000906451" "0" "50" "12" "103249006" "103249006" "subst" "0" "00006" "PAH_001207" "g.103249006T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:154} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855228T>G" "" "VUS" "" "0000906452" "0" "50" "12" "103249004" "103249004" "subst" "0" "00006" "PAH_001204" "g.103249004A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:155} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855226A>C" "" "VUS" "" "0000906453" "0" "90" "12" "103249003" "103249003" "subst" "0" "00006" "PAH_001203" "g.103249003T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:156} with 3D model" "" "" "allelic phenotype value 2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102855225T>C" "" "pathogenic (recessive)" "" "0000906454" "0" "90" "12" "103249002" "103249002" "subst" "4.06362E-6" "00006" "PAH_001202" "g.103249002G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:157} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855224G>T" "" "pathogenic (recessive)" "" "0000906455" "0" "90" "12" "103249002" "103249002" "subst" "0" "00006" "PAH_000500" "g.103249002G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:158} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855224G>C" "" "pathogenic (recessive)" "" "0000906456" "0" "50" "12" "103249001" "103249001" "subst" "0" "00006" "PAH_001201" "g.103249001T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:159} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855223T>C" "" "VUS" "" "0000906457" "0" "50" "12" "103249000" "103249000" "subst" "0" "00006" "PAH_001200" "g.103249000T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:160} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855222T>C" "" "VUS" "" "0000906458" "0" "90" "12" "103248989" "103248989" "subst" "2.43809E-5" "00006" "PAH_000101" "g.103248989G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:161} with 3D model" "" "" "allelic phenotype value 9.7, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855211G>T" "" "pathogenic (recessive)" "" "0000906459" "0" "90" "12" "103248989" "103248989" "del" "0" "00006" "PAH_000346" "g.103248989del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:162}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855211del" "" "pathogenic (recessive)" "" "0000906460" "0" "50" "12" "103248985" "103248985" "subst" "0" "00006" "PAH_000442" "g.103248985A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:163} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855207A>G" "" "VUS" "" "0000906461" "0" "90" "12" "103248982" "103248982" "subst" "0" "00006" "PAH_000441" "g.103248982A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:164} with 3D model" "" "" "allelic phenotype value 1.1, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102855204A>G" "" "pathogenic (recessive)" "" "0000906462" "0" "90" "12" "103248972" "103248972" "subst" "0" "00006" "PAH_000440" "g.103248972G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:165}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855194G>C" "" "pathogenic (recessive)" "" "0000906463" "0" "50" "12" "103248971" "103248971" "subst" "0" "00006" "PAH_000240" "g.103248971A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:166} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855193A>G" "" "VUS" "" "0000906464" "0" "50" "12" "103248971" "103248971" "subst" "0" "00006" "PAH_000100" "g.103248971A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:167} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855193A>C" "" "VUS" "" "0000906465" "0" "50" "12" "103248970" "103248970" "subst" "0" "00006" "PAH_001192" "g.103248970C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:168} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855192C>T" "" "VUS" "" "0000906466" "0" "90" "12" "103248967" "103248967" "subst" "8.1279E-6" "00006" "PAH_000439" "g.103248967C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:169} with 3D model" "" "" "allelic phenotype value 2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102855189C>A" "" "pathogenic (recessive)" "" "0000906467" "0" "50" "12" "103248964" "103248964" "subst" "0" "00006" "PAH_001187" "g.103248964A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:170} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855186A>G" "" "VUS" "" "0000906468" "0" "50" "12" "103248958" "103248958" "subst" "4.06359E-6" "00006" "PAH_001184" "g.103248958T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:171} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855180T>C" "" "VUS" "" "0000906469" "0" "90" "12" "103248956" "103248957" "del" "0" "00006" "PAH_000438" "g.103248956_103248957del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:173} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855178_102855179del" "" "pathogenic (recessive)" "" "0000906470" "0" "90" "12" "103248955" "103248955" "subst" "0" "00006" "PAH_000099" "g.103248955T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:174} with 3D model" "" "" "allelic phenotype value 5.7, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102855177T>C" "" "pathogenic (recessive)" "" "0000906471" "0" "50" "12" "103248955" "103248955" "subst" "0" "00006" "PAH_001182" "g.103248955T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:175} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855177T>A" "" "VUS" "" "0000906472" "0" "50" "12" "103248953" "103248953" "subst" "0" "00006" "PAH_001180" "g.103248953T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:176} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855175T>A" "" "VUS" "" "0000906473" "0" "50" "12" "103248949" "103248949" "subst" "0" "00006" "PAH_000345" "g.103248949A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:177} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855171A>G" "" "VUS" "" "0000906474" "0" "50" "12" "103248948" "103248948" "subst" "0" "00006" "PAH_001176" "g.103248948A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:178} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855170A>C" "" "VUS" "" "0000906475" "0" "50" "12" "103248947" "103248947" "subst" "0" "00006" "PAH_001175" "g.103248947G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:179} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855169G>C" "" "VUS" "" "0000906476" "0" "50" "12" "103248947" "103248947" "subst" "0" "00006" "PAH_000209" "g.103248947G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:180} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855169G>T" "" "VUS" "" "0000906477" "0" "50" "12" "103248946" "103248946" "subst" "4.06352E-6" "00006" "PAH_001172" "g.103248946G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:181} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855168G>A" "" "VUS" "" "0000906478" "0" "50" "12" "103248946" "103248946" "subst" "0" "00006" "PAH_001173" "g.103248946G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:182} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855168G>C" "" "VUS" "" "0000906479" "0" "90" "12" "103248944" "103248944" "subst" "0" "00006" "PAH_001170" "g.103248944G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:183} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855166G>A" "" "pathogenic (recessive)" "" "0000906480" "0" "50" "12" "103248942" "103248942" "subst" "0" "00006" "PAH_000343" "g.103248942C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:184} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855164C>G" "" "VUS" "" "0000906481" "0" "50" "12" "103248940" "103248940" "subst" "0" "00006" "PAH_001167" "g.103248940A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:185} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855162A>T" "" "VUS" "" "0000906482" "0" "90" "12" "103248938" "103248938" "subst" "0" "00006" "PAH_000342" "g.103248938C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:186} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855160C>A" "" "pathogenic (recessive)" "" "0000906483" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "00006" "PAH_000006" "g.103248932C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:187} with 3D model" "" "" "allelic phenotype value 9.8, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855154C>T" "" "pathogenic (recessive)" "" "0000906484" "0" "50" "12" "103248931" "103248931" "subst" "0" "00006" "PAH_000341" "g.103248931A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:188} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855153A>G" "" "VUS" "" "0000906485" "0" "50" "12" "103248931" "103248931" "subst" "0" "00006" "PAH_001158" "g.103248931A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:189} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855153A>C" "" "VUS" "" "0000906486" "0" "50" "12" "103248929" "103248929" "subst" "0" "00006" "PAH_000097" "g.103248929A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:190} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855151A>G" "" "VUS" "" "0000906487" "0" "50" "12" "103248928" "103248928" "subst" "0" "00006" "PAH_000161" "g.103248928G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:191} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855150G>A" "" "VUS" "" "0000906488" "0" "90" "12" "103248926" "103248926" "subst" "4.06402E-6" "00006" "PAH_000190" "g.103248926G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:192} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855148G>A" "" "pathogenic (recessive)" "" "0000906489" "0" "50" "12" "103248924" "103248924" "=" "0" "00006" "PAH_000340" "g.103248924=" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:193} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855146=" "" "VUS" "" "0000906490" "0" "50" "12" "103248921" "103248921" "subst" "0" "00006" "PAH_001151" "g.103248921G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:194} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855143G>T" "" "VUS" "" "0000906491" "0" "50" "12" "103248916" "103248916" "subst" "0" "00006" "PAH_001147" "g.103248916T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:195} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855138T>G" "" "VUS" "" "0000906492" "0" "50" "12" "103248897" "103248897" "subst" "0.000207305" "00006" "PAH_001140" "g.103248897C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:196}" "" "IVS6+17G>T" "" "Unknown" "" "" "0" "" "" "g.102855119C>A" "" "VUS" "" "0000906493" "0" "50" "12" "103246824" "103246824" "subst" "0" "00006" "PAH_000498" "g.103246824C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:197}" "" "IVS6-96G>A" "" "Unknown" "" "" "0" "" "" "g.102853046C>T" "" "VUS" "" "0000906494" "0" "50" "12" "103246735" "103246735" "subst" "0.00692659" "00006" "PAH_000435" "g.103246735T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:198}" "" "IVS6-7A>T" "" "Unknown" "" "" "0" "" "" "g.102852957T>A" "" "VUS" "" "0000906495" "0" "90" "12" "103246730" "103246730" "subst" "0" "00006" "PAH_001130" "g.103246730T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:199}" "" "IVS6-2A>G" "" "Unknown" "" "" "0" "" "" "g.102852952T>C" "" "pathogenic (recessive)" "" "0000906496" "0" "90" "12" "103246729" "103246729" "subst" "0" "00006" "PAH_000336" "g.103246729C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:200}" "" "IVS6-1G>A" "" "Unknown" "" "" "0" "" "" "g.102852951C>T" "" "pathogenic (recessive)" "" "0000906497" "0" "90" "12" "103246730" "103246730" "del" "0" "00006" "PAH_001131" "g.103246730del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:201}" "" "IVS6-2del" "" "Unknown" "" "" "0" "" "" "g.102852952del" "" "pathogenic (recessive)" "" "0000906498" "0" "50" "12" "103246723" "103246723" "subst" "0" "00006" "PAH_001128" "g.103246723T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:202} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852945T>G" "" "VUS" "" "0000906499" "0" "90" "12" "103246723" "103246723" "subst" "0" "00006" "PAH_000093" "g.103246723T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:203} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852945T>C" "" "pathogenic (recessive)" "" "0000906500" "0" "90" "12" "103246720" "103246720" "subst" "0" "00006" "PAH_001126" "g.103246720C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:204} with 3D model" "" "" "allelic phenotype value 1.3, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852942C>T" "" "pathogenic (recessive)" "" "0000906501" "0" "50" "12" "103246719" "103246719" "subst" "0" "00006" "PAH_001123" "g.103246719C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:205} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852941C>G" "" "VUS" "" "0000906502" "0" "50" "12" "103246719" "103246719" "subst" "0" "00006" "PAH_001124" "g.103246719C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:206} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852941C>T" "" "VUS" "" "0000906503" "0" "50" "12" "103246719" "103246719" "subst" "0" "00006" "PAH_001125" "g.103246719C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:207} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852941C>A" "" "VUS" "" "0000906504" "0" "50" "12" "103246717" "103246717" "subst" "0" "00006" "PAH_001122" "g.103246717A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:208} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852939A>C" "" "VUS" "" "0000906505" "0" "50" "12" "103246716" "103246716" "subst" "0" "00006" "PAH_001121" "g.103246716A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:209} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852938A>G" "" "VUS" "" "0000906506" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:210} with 3D model" "" "" "allelic phenotype value 6, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic (recessive)" "" "0000906507" "0" "90" "12" "103246713" "103246713" "subst" "0.000166812" "00006" "PAH_000090" "g.103246713C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:211} with 3D model" "" "" "allelic phenotype value 5.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic (recessive)" "" "0000906508" "0" "90" "12" "103246713" "103246713" "del" "0" "00006" "PAH_000335" "g.103246713del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:212}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852935del" "" "pathogenic (recessive)" "" "0000906509" "0" "50" "12" "103246713" "103246713" "subst" "4.06858E-6" "00006" "PAH_000091" "g.103246713C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:213} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852935C>A" "" "VUS" "" "0000906510" "0" "50" "12" "103246711" "103246711" "subst" "0" "00006" "PAH_000235" "g.103246711G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:215} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852933G>A" "" "VUS" "" "0000906511" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "00006" "PAH_000088" "g.103246708G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:216} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852930G>A" "" "pathogenic (recessive)" "" "0000906512" "0" "50" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:217} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852929C>T" "" "VUS" "" "0000906513" "0" "50" "12" "103246707" "103246707" "subst" "0" "00006" "PAH_000087" "g.103246707C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:218} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852929C>A" "" "VUS" "" "0000906514" "0" "90" "12" "103288669" "103288669" "subst" "0" "00006" "PAH_000461" "g.103288669C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:219}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894891C>A" "" "pathogenic (recessive)" "" "0000906515" "0" "50" "12" "103246704" "103246704" "subst" "4.06653E-6" "00006" "PAH_001115" "g.103246704G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:220} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852926G>A" "" "VUS" "" "0000906516" "0" "50" "12" "103246702" "103246702" "subst" "0" "00006" "PAH_001113" "g.103246702C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:221} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852924C>T" "" "VUS" "" "0000906517" "0" "50" "12" "103246702" "103246702" "subst" "4.06557E-6" "00006" "PAH_001114" "g.103246702C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:222} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852924C>G" "" "VUS" "" "0000906518" "0" "90" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:223} with 3D model" "" "" "allelic phenotype value 9.9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102852923A>G" "" "pathogenic (recessive)" "" "0000906519" "0" "50" "12" "103246701" "103246701" "subst" "2.43922E-5" "00006" "PAH_001112" "g.103246701A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:224} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852923A>T" "" "VUS" "" "0000906520" "0" "50" "12" "103246700" "103246700" "subst" "0.289791" "00006" "PAH_000083" "g.103246700C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:225} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852922C>T" "" "VUS" "" "0000906521" "0" "90" "12" "103246698" "103246698" "del" "8.13015E-6" "00006" "PAH_000549" "g.103246698del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:226}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852920del" "" "pathogenic (recessive)" "" "0000906522" "0" "50" "12" "103246698" "103246698" "subst" "0" "00006" "PAH_000334" "g.103246698G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:227} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852920G>A" "" "VUS" "" "0000906523" "0" "50" "12" "103246698" "103246698" "subst" "0" "00006" "PAH_001109" "g.103246698G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:228} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852920G>T" "" "VUS" "" "0000906524" "0" "50" "12" "103246696" "103246696" "subst" "0" "00006" "PAH_001107" "g.103246696C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:229} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852918C>T" "" "VUS" "" "0000906525" "0" "90" "12" "103246696" "103246696" "subst" "0" "00006" "PAH_000333" "g.103246696C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:230} with 3D model" "" "" "allelic phenotype value 3.1, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102852918C>G" "" "pathogenic (recessive)" "" "0000906526" "0" "50" "12" "103246695" "103246695" "subst" "4.06514E-6" "00006" "PAH_000496" "g.103246695C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:231} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852917C>T" "" "VUS" "" "0000906527" "0" "50" "12" "103246695" "103246695" "subst" "0" "00006" "PAH_000234" "g.103246695C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:232} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852917C>A" "" "VUS" "" "0000906528" "0" "50" "12" "103246692" "103246692" "subst" "0" "00006" "PAH_000082" "g.103246692A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:233} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852914A>G" "" "VUS" "" "0000906529" "0" "50" "12" "103246692" "103246692" "subst" "0" "00006" "PAH_001105" "g.103246692A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:234} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852914A>C" "" "VUS" "" "0000906530" "0" "90" "12" "103246690" "103246690" "subst" "4.06507E-5" "00006" "PAH_000434" "g.103246690G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:235} with 3D model" "" "" "allelic phenotype value 3.6, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852912G>A" "" "pathogenic (recessive)" "" "0000906531" "0" "50" "12" "103246689" "103246689" "subst" "0" "00006" "PAH_001102" "g.103246689A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:236} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852911A>T" "" "VUS" "" "0000906532" "0" "50" "12" "103246689" "103246689" "subst" "0" "00006" "PAH_001103" "g.103246689A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:237} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852911A>G" "" "VUS" "" "0000906533" "0" "90" "12" "103246684" "103246685" "del" "0" "00006" "PAH_001098" "g.103246684_103246685del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:238}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852906_102852907del" "" "pathogenic (recessive)" "" "0000906534" "0" "90" "12" "103246682" "103246682" "del" "0" "00006" "PAH_001097" "g.103246682del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:239}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852904del" "" "pathogenic (recessive)" "" "0000906535" "0" "50" "12" "103246681" "103246681" "subst" "0" "00006" "PAH_001096" "g.103246681G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:240} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852903G>C" "" "VUS" "" "0000906536" "0" "50" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:241} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852903G>A" "" "VUS" "" "0000906537" "0" "50" "12" "103246680" "103246680" "subst" "0" "00006" "PAH_001094" "g.103246680C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:242} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852902C>G" "" "VUS" "" "0000906538" "0" "50" "12" "103246680" "103246680" "subst" "8.12889E-6" "00006" "PAH_000007" "g.103246680C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:243} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852902C>T" "" "VUS" "" "0000906539" "0" "50" "12" "103246675" "103246675" "subst" "0" "00006" "PAH_001092" "g.103246675A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:244} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852897A>T" "" "VUS" "" "0000906540" "0" "50" "12" "103246672" "103246672" "subst" "0" "00006" "PAH_001091" "g.103246672A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:245} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852894A>C" "" "VUS" "" "0000906541" "0" "50" "12" "103246671" "103246671" "subst" "0" "00006" "PAH_000233" "g.103246671A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:246} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852893A>G" "" "VUS" "" "0000906542" "0" "50" "12" "103246666" "103246666" "subst" "0" "00006" "PAH_001087" "g.103246666C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:247} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852888C>A" "" "VUS" "" "0000906543" "0" "50" "12" "103246666" "103246666" "subst" "0" "00006" "PAH_001088" "g.103246666C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:248} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852888C>T" "" "VUS" "" "0000906544" "0" "50" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:249} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852887C>A" "" "VUS" "" "0000906545" "0" "50" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000433" "g.103246665C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:250} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852887C>T" "" "VUS" "" "0000906546" "0" "90" "12" "103246662" "103246662" "subst" "0" "00006" "PAH_000495" "g.103246662A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:251} with 3D model" "" "" "allelic phenotype value 10.0, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102852884A>G" "" "pathogenic (recessive)" "" "0000906547" "0" "50" "12" "103246660" "103246660" "subst" "4.06345E-6" "00006" "PAH_000331" "g.103246660C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:252} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852882C>T" "" "VUS" "" "0000906548" "0" "50" "12" "103246659" "103246659" "subst" "8.12671E-6" "00006" "PAH_000175" "g.103246659G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:253} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852881G>A" "" "VUS" "" "0000906549" "0" "90" "12" "103246654" "103246654" "subst" "2.03174E-5" "00006" "PAH_000159" "g.103246654G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:254} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852876G>A" "" "pathogenic (recessive)" "" "0000906550" "0" "90" "12" "103246653" "103246653" "subst" "0" "00006" "PAH_000077" "g.103246653C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:255} with 3D model" "" "" "allelic phenotype value 2.8, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102852875C>G" "" "pathogenic (recessive)" "" "0000906551" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:256} with 3D model" "" "" "allelic phenotype value 1.7, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic (recessive)" "" "0000906552" "0" "50" "12" "103246646" "103246646" "subst" "1.2189E-5" "00006" "PAH_001073" "g.103246646G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:257} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852868G>C" "" "VUS" "" "0000906553" "0" "50" "12" "103246644" "103246644" "subst" "0" "00006" "PAH_001072" "g.103246644T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:258} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852866T>A" "" "VUS" "" "0000906554" "0" "50" "12" "103246642" "103246642" "subst" "0" "00006" "PAH_001069" "g.103246642A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:259} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852864A>C" "" "VUS" "" "0000906555" "0" "50" "12" "103246641" "103246641" "subst" "0" "00006" "PAH_001068" "g.103246641C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:260} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852863C>T" "" "VUS" "" "0000906556" "0" "50" "12" "103246639" "103246639" "subst" "0" "00006" "PAH_000430" "g.103246639T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:261} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852861T>G" "" "VUS" "" "0000906557" "0" "50" "12" "103246639" "103246639" "subst" "0" "00006" "PAH_001065" "g.103246639T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:262} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852861T>C" "" "VUS" "" "0000906558" "0" "50" "12" "103246638" "103246639" "delins" "0" "00006" "PAH_001064" "g.103246638_103246639delinsTC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:263} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852860_102852861delinsTC" "" "VUS" "" "0000906559" "0" "50" "12" "103246636" "103246636" "subst" "0" "00006" "PAH_001059" "g.103246636G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:264} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852858G>C" "" "VUS" "" "0000906560" "0" "90" "12" "103246636" "103246636" "subst" "0" "00006" "PAH_001060" "g.103246636G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:265} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852858G>A" "" "pathogenic (recessive)" "" "0000906561" "0" "50" "12" "103246635" "103246635" "subst" "4.06289E-6" "00006" "PAH_001058" "g.103246635T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:266} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852857T>A" "" "VUS" "" "0000906562" "0" "50" "12" "103246634" "103246634" "subst" "0" "00006" "PAH_001055" "g.103246634C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:267} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852856C>G" "" "VUS" "" "0000906563" "0" "50" "12" "103246633" "103246633" "subst" "4.06309E-6" "00006" "PAH_001054" "g.103246633A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:268} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852855A>G" "" "VUS" "" "0000906564" "0" "90" "12" "103246630" "103246630" "subst" "9.34473E-5" "00006" "PAH_000328" "g.103246630T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:269} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102852852T>G" "" "pathogenic (recessive)" "" "0000906565" "0" "50" "12" "103246629" "103246629" "subst" "0" "00006" "PAH_001049" "g.103246629A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:270} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852851A>T" "" "VUS" "" "0000906566" "0" "90" "12" "103246629" "103246629" "del" "0" "00006" "PAH_001050" "g.103246629del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:271}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852851del" "" "pathogenic (recessive)" "" "0000906567" "0" "50" "12" "103246627" "103246627" "subst" "0" "00006" "PAH_001048" "g.103246627T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:272} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852849T>C" "" "VUS" "" "0000906568" "0" "50" "12" "103246626" "103246626" "subst" "1.62528E-5" "00006" "PAH_000207" "g.103246626C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:273} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852848C>T" "" "VUS" "" "0000906569" "0" "90" "12" "103246622" "103246626" "del" "0" "00006" "PAH_001043" "g.103246622_103246626del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:274}" "" "c.810_814delACATG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852844_102852848del" "" "pathogenic (recessive)" "" "0000906570" "0" "90" "12" "103246625" "103246625" "subst" "0" "00006" "PAH_001046" "g.103246625T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:275} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852847T>A" "" "pathogenic (recessive)" "" "0000906571" "0" "50" "12" "103246624" "103246624" "subst" "0" "00006" "PAH_001045" "g.103246624G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:276} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852846G>A" "" "VUS" "" "0000906572" "0" "50" "12" "103246623" "103246623" "subst" "4.06286E-6" "00006" "PAH_000429" "g.103246623T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:277} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852845T>C" "" "VUS" "" "0000906573" "0" "50" "12" "103246622" "103246622" "subst" "0" "00006" "PAH_000327" "g.103246622A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:278} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852844A>C" "" "VUS" "" "0000906574" "0" "90" "12" "103246621" "103246621" "subst" "3.65669E-5" "00006" "PAH_000075" "g.103246621C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:279}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852843C>A" "" "pathogenic (recessive)" "" "0000906575" "0" "50" "12" "103246618" "103246618" "subst" "0" "00006" "PAH_001041" "g.103246618A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:280} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852840A>G" "" "VUS" "" "0000906576" "0" "50" "12" "103246617" "103246617" "subst" "4.06322E-6" "00006" "PAH_001040" "g.103246617G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:281} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852839G>A" "" "VUS" "" "0000906577" "0" "50" "12" "103246615" "103246615" "subst" "0.00119858" "00006" "PAH_000158" "g.103246615T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:282} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852837T>C" "" "VUS" "" "0000906578" "0" "90" "12" "103246604" "103246614" "del" "0" "00006" "PAH_000492" "g.103246604_103246614del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:283}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852826_102852836del" "" "pathogenic (recessive)" "" "0000906579" "0" "90" "12" "103246612" "103246612" "subst" "0" "00006" "PAH_000548" "g.103246612G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:284} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852834G>A" "" "pathogenic (recessive)" "" "0000906580" "0" "50" "12" "103246612" "103246612" "subst" "0" "00006" "PAH_001038" "g.103246612G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:285} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852834G>C" "" "VUS" "" "0000906581" "0" "50" "12" "103246611" "103246611" "subst" "0" "00006" "PAH_001037" "g.103246611G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:286} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852833G>A" "" "VUS" "" "0000906582" "0" "90" "12" "103246611" "103246611" "subst" "0" "00006" "PAH_000493" "g.103246611G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:287} with 3D model" "" "" "allelic phenotype value 5.0, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852833G>C" "" "pathogenic (recessive)" "" "0000906583" "0" "90" "12" "103246609" "103246609" "subst" "0" "00006" "PAH_001036" "g.103246609T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:288} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852831T>C" "" "pathogenic (recessive)" "" "0000906584" "0" "90" "12" "103246608" "103246608" "subst" "0" "00006" "PAH_000326" "g.103246608A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:289} with 3D model" "" "" "allelic phenotype value 6, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102852830A>T" "" "pathogenic (recessive)" "" "0000906585" "0" "90" "12" "103246608" "103246608" "subst" "0" "00006" "PAH_001034" "g.103246608A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:290} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852830A>C" "" "pathogenic (recessive)" "" "0000906586" "0" "50" "12" "103246607" "103246607" "subst" "0" "00006" "PAH_001032" "g.103246607C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:291} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852829C>A" "" "VUS" "" "0000906587" "0" "90" "12" "103246606" "103246606" "subst" "1.62522E-5" "00006" "PAH_000073" "g.103246606A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:292} with 3D model" "" "" "allelic phenotype value 0.8, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852828A>C" "" "pathogenic (recessive)" "" "0000906588" "0" "90" "12" "103246605" "103246605" "subst" "8.12638E-6" "00006" "PAH_000206" "g.103246605T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:293} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852827T>C" "" "pathogenic (recessive)" "" "0000906589" "0" "50" "12" "103246603" "103246603" "subst" "0" "00006" "PAH_001030" "g.103246603T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:294} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852825T>C" "" "VUS" "" "0000906590" "0" "50" "12" "103246602" "103246602" "subst" "0" "00006" "PAH_001029" "g.103246602G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:295} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852824G>C" "" "VUS" "" "0000906591" "0" "90" "12" "103246602" "103246602" "subst" "0" "00006" "PAH_000260" "g.103246602G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:296} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852824G>A" "" "pathogenic (recessive)" "" "0000906592" "0" "90" "12" "103246602" "103246602" "subst" "0" "00006" "PAH_000325" "g.103246602G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:297} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852824G>T" "" "pathogenic (recessive)" "" "0000906593" "0" "50" "12" "103246599" "103246599" "subst" "0" "00006" "PAH_001026" "g.103246599G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:298} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852821G>A" "" "VUS" "" "0000906594" "0" "50" "12" "103246597" "103246597" "subst" "4.06435E-6" "00006" "PAH_001025" "g.103246597C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:300} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852819C>G" "" "VUS" "" "0000906595" "0" "90" "12" "103246590" "103246597" "del" "0" "00006" "PAH_000426" "g.103246590_103246597del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:301}, {BIOPKU:888}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852812_102852819del" "" "pathogenic (recessive)" "" "0000906596" "0" "90" "12" "103246597" "103246597" "subst" "5.69009E-5" "00006" "PAH_000157" "g.103246597C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:302} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852819C>T" "" "pathogenic (recessive)" "" "0000906597" "0" "90" "12" "103246595" "103246596" "ins" "0" "00006" "PAH_001023" "g.103246595_103246596insA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:303}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852817_102852818insA" "" "pathogenic (recessive)" "" "0000906598" "0" "90" "12" "103246596" "103246596" "subst" "0" "00006" "PAH_000427" "g.103246596T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:304} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852818T>C" "" "pathogenic (recessive)" "" "0000906599" "0" "90" "12" "103246596" "103246596" "subst" "0" "00006" "PAH_001024" "g.103246596T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:305} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852818T>G" "" "pathogenic (recessive)" "" "0000906600" "0" "90" "12" "103246594" "103246594" "subst" "4.06445E-6" "00006" "PAH_000070" "g.103246594G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:306} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852816G>A" "" "pathogenic (recessive)" "" "0000906601" "0" "90" "12" "103246594" "103246594" "subst" "0" "00006" "PAH_001022" "g.103246594G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:307} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852816G>C" "" "pathogenic (recessive)" "" "0000906602" "0" "90" "12" "103246592" "103246594" "del" "0" "00006" "PAH_001019" "g.103246592_103246594del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:308}" "" "c.841_842+1delCCG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852814_102852816del" "" "pathogenic (recessive)" "" "0000906603" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:309} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852815G>A" "" "pathogenic (recessive)" "" "0000906604" "0" "90" "12" "103246593" "103246593" "subst" "0" "00006" "PAH_000491" "g.103246593G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:310} with 3D model" "" "" "allelic phenotype value 0.8, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852815G>C" "" "pathogenic (recessive)" "" "0000906605" "0" "90" "12" "103246592" "103246592" "subst" "3.658E-5" "00006" "PAH_000068" "g.103246592C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:311}" "" "IVS7+1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852814C>T" "" "pathogenic (recessive)" "" "0000906606" "0" "90" "12" "103246592" "103246592" "subst" "0" "00006" "PAH_001018" "g.103246592C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:312}" "" "IVS7+1G>T" "" "Unknown" "" "" "0" "" "" "g.102852814C>A" "" "pathogenic (recessive)" "" "0000906607" "0" "90" "12" "103246591" "103246591" "subst" "0" "00006" "PAH_000188" "g.103246591A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:313}" "" "IVS7+2T>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852813A>T" "" "pathogenic (recessive)" "" "0000906608" "0" "90" "12" "103246590" "103246590" "subst" "1.21935E-5" "00006" "PAH_000323" "g.103246590C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:314}" "" "IVS7+3G>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852812C>G" "" "pathogenic (recessive)" "" "0000906609" "0" "90" "12" "103246589" "103246589" "subst" "0" "00006" "PAH_000321" "g.103246589T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:315}" "" "IVS7+4A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852811T>C" "" "pathogenic (recessive)" "" "0000906610" "0" "90" "12" "103246588" "103246588" "subst" "8.12922E-6" "00006" "PAH_000067" "g.103246588C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:316}" "" "IVS7+5G>A" "allelic phenotype value 1.9, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852810C>T" "" "pathogenic (recessive)" "" "0000906611" "0" "90" "12" "103246587" "103246587" "subst" "0" "00006" "PAH_001017" "g.103246587A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:317}" "" "IVS7+6T>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852809A>T" "" "pathogenic (recessive)" "" "0000906612" "0" "50" "12" "103246568" "103246568" "subst" "0" "00006" "PAH_001015" "g.103246568C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:318}" "" "IVS7+25G>T" "" "Unknown" "" "" "0" "" "" "g.102852790C>A" "" "VUS" "" "0000906613" "0" "90" "12" "103245539" "103245539" "subst" "0" "00006" "PAH_000066" "g.103245539A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:319}" "" "IVS7-5T>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851761A>G" "" "pathogenic (recessive)" "" "0000906614" "0" "90" "12" "103245540" "103245540" "del" "0" "00006" "PAH_001008" "g.103245540del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:320}" "" "IVS7-4del, 843-4delT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851762del" "" "pathogenic (recessive)" "" "0000906615" "0" "90" "12" "103245536" "103245536" "subst" "0" "00006" "PAH_001007" "g.103245536T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:321}" "" "IVS7-2A>T" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851758T>A" "" "pathogenic (recessive)" "" "0000906616" "0" "90" "12" "103245533" "103245533" "subst" "4.07136E-6" "00006" "PAH_000425" "g.103245533C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:322} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851755C>T" "" "pathogenic (recessive)" "" "0000906617" "0" "50" "12" "103245532" "103245532" "subst" "0" "00006" "PAH_001004" "g.103245532T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:323} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851754T>C" "" "VUS" "" "0000906618" "0" "90" "12" "103245530" "103245530" "subst" "1.22114E-5" "00006" "PAH_000547" "g.103245530T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:324} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851752T>A" "" "pathogenic (recessive)" "" "0000906619" "0" "50" "12" "103245529" "103245529" "subst" "0" "00006" "PAH_000490" "g.103245529A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:325} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851751A>T" "" "VUS" "" "0000906620" "0" "50" "12" "103245527" "103245527" "subst" "0" "00006" "PAH_001001" "g.103245527A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:326} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851749A>G" "" "VUS" "" "0000906621" "0" "50" "12" "103245524" "103245524" "subst" "0" "00006" "PAH_000998" "g.103245524G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:327} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851746G>A" "" "VUS" "" "0000906622" "0" "90" "12" "103245521" "103245521" "subst" "8.13974E-6" "00006" "PAH_000319" "g.103245521C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:328} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851743C>T" "" "pathogenic (recessive)" "" "0000906623" "0" "50" "12" "103245518" "103245518" "subst" "8.13935E-6" "00006" "PAH_000996" "g.103245518G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:329} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851740G>C" "" "VUS" "" "0000906624" "0" "50" "12" "103245513" "103245513" "subst" "0" "00006" "PAH_000993" "g.103245513C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:330} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851735C>G" "" "VUS" "" "0000906625" "0" "90" "12" "103245512" "103245512" "subst" "0" "00006" "PAH_000489" "g.103245512C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:331} with 3D model" "" "" "allelic phenotype value 10.0, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102851734C>G" "" "pathogenic (recessive)" "" "0000906626" "0" "50" "12" "103245509" "103245509" "subst" "4.06957E-6" "00006" "PAH_000064" "g.103245509G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:332} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851731G>A" "" "VUS" "" "0000906627" "0" "50" "12" "103245508" "103245508" "subst" "0" "00006" "PAH_000992" "g.103245508T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:333} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851730T>C" "" "VUS" "" "0000906628" "0" "50" "12" "103245500" "103245500" "subst" "0" "00006" "PAH_000985" "g.103245500A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:334} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851722A>T" "" "VUS" "" "0000906629" "0" "50" "12" "103245499" "103245499" "subst" "0" "00006" "PAH_000984" "g.103245499A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:335} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851721A>G" "" "VUS" "" "0000906630" "0" "90" "12" "103245493" "103245493" "subst" "0" "00006" "PAH_000982" "g.103245493G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:336}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851715G>C" "" "pathogenic (recessive)" "" "0000906631" "0" "90" "12" "103245488" "103245488" "subst" "2.84805E-5" "00006" "PAH_000422" "g.103245488G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:337} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102851710G>A" "" "pathogenic (recessive)" "" "0000906632" "0" "90" "12" "103245487" "103245487" "subst" "8.13696E-6" "00006" "PAH_000174" "g.103245487C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:338} with 3D model" "" "" "allelic phenotype value 9.8, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102851709C>T" "" "pathogenic (recessive)" "" "0000906633" "0" "50" "12" "103245487" "103245487" "subst" "0" "00006" "PAH_000979" "g.103245487C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:339} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851709C>A" "" "VUS" "" "0000906634" "0" "90" "12" "103245480" "103245482" "del" "0" "00006" "PAH_000975" "g.103245480_103245482del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:340}" "" "c.895_897delTTT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851702_102851704del" "" "pathogenic (recessive)" "" "0000906635" "0" "90" "12" "103245481" "103245481" "subst" "8.95015E-5" "00006" "PAH_000063" "g.103245481A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:341} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851703A>C" "" "pathogenic (recessive)" "" "0000906636" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:342} with 3D model" "" "" "allelic phenotype value 9.2, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102851701C>A" "" "pathogenic (recessive)" "" "0000906637" "0" "50" "12" "103245478" "103245478" "subst" "0" "00006" "PAH_000972" "g.103245478G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:343} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851700G>A" "" "VUS" "" "0000906638" "0" "90" "12" "103245476" "103245476" "subst" "0" "00006" "PAH_000970" "g.103245476G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:344} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851698G>A" "" "pathogenic (recessive)" "" "0000906639" "0" "90" "12" "103245475" "103245475" "subst" "0" "00006" "PAH_000969" "g.103245475T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:345} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851697T>G" "" "pathogenic (recessive)" "" "0000906640" "0" "50" "12" "103245474" "103245474" "subst" "0" "00006" "PAH_000968" "g.103245474C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:346} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851696C>A" "" "VUS" "" "0000906641" "0" "90" "12" "103245470" "103245470" "subst" "0" "00006" "PAH_000205" "g.103245470A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:347} with 3D model" "" "" "allelic phenotype value 9.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102851692A>C" "" "pathogenic (recessive)" "" "0000906642" "0" "50" "12" "103245470" "103245470" "subst" "0" "00006" "PAH_000316" "g.103245470A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:348} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851692A>G" "" "VUS" "" "0000906643" "0" "90" "12" "103245473" "103245473" "del" "0" "00006" "PAH_000231" "g.103245473del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:349}, {BIOPKU:971}" "" "904delT, 907delT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851695del" "" "pathogenic (recessive)" "" "0000906644" "0" "50" "12" "103245466" "103245466" "subst" "0" "00006" "PAH_000313" "g.103245466T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:350} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851688T>C" "" "VUS" "" "0000906645" "0" "90" "12" "103245466" "103245466" "subst" "0" "00006" "PAH_000966" "g.103245466T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:351} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851688T>G" "" "pathogenic (recessive)" "" "0000906646" "0" "90" "12" "103245465" "103245465" "subst" "4.06921E-6" "00006" "PAH_000204" "g.103245465C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:352} with 3D model" "" "" "allelic phenotype value 3.8, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102851687C>T" "" "pathogenic (recessive)" "" "0000906647" "0" "90" "12" "103245464" "103245464" "subst" "1.2208E-5" "00006" "PAH_000180" "g.103245464C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:353}" "" "IVS8+1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851686C>T" "" "pathogenic (recessive)" "" "0000906648" "0" "90" "12" "103245464" "103245464" "subst" "0" "00006" "PAH_000963" "g.103245464C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:354}" "" "IVS8+1G>T" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851686C>A" "" "pathogenic (recessive)" "" "0000906649" "0" "90" "12" "103245463" "103245463" "subst" "0" "00006" "PAH_000312" "g.103245463A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:355}" "" "IVS8+2T>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851685A>G" "" "pathogenic (recessive)" "" "0000906650" "0" "90" "12" "103240736" "103240736" "subst" "1.21967E-5" "00006" "PAH_000230" "g.103240736T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:356}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846958T>C" "" "pathogenic (recessive)" "" "0000906651" "0" "90" "12" "103240734" "103240734" "subst" "0" "00006" "PAH_000955" "g.103240734A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:357}" "" "IVS8-5T>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846956A>C" "" "pathogenic (recessive)" "" "0000906652" "0" "50" "12" "103288655" "103288660" "dup" "0" "00006" "PAH_001495" "g.103288655_103288660dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:358}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894877_102894882dup" "" "VUS" "" "0000906653" "0" "90" "12" "103240726" "103240726" "subst" "1.21955E-5" "00006" "PAH_000060" "g.103240726T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:359} with 3D model" "" "" "allelic phenotype value 9.7, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102846948T>C" "" "pathogenic (recessive)" "" "0000906654" "0" "90" "12" "103240728" "103240728" "del" "0" "00006" "PAH_000309" "g.103240728del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:360}" "" "c.916delA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846950del" "" "pathogenic (recessive)" "" "0000906655" "0" "90" "12" "103240723" "103240723" "del" "0" "00006" "PAH_000950" "g.103240723del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:361}" "" "c.920delG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846945del" "" "pathogenic (recessive)" "" "0000906656" "0" "90" "12" "103240720" "103240720" "subst" "0" "00006" "PAH_000419" "g.103240720G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:362} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102846942G>A" "" "pathogenic (recessive)" "" "0000906657" "0" "50" "12" "103240720" "103240720" "subst" "0" "00006" "PAH_000947" "g.103240720G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:363} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846942G>C" "" "VUS" "" "0000906658" "0" "90" "12" "103240716" "103240716" "subst" "4.06438E-6" "00006" "PAH_000307" "g.103240716G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:364} with 3D model" "" "" "allelic phenotype value 3.1, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102846938G>T" "" "pathogenic (recessive)" "" "0000906659" "0" "90" "12" "103240716" "103240716" "subst" "1.62575E-5" "00006" "PAH_000418" "g.103240716G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:365} with 3D model" "" "" "allelic phenotype value 3.1, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102846938G>A" "" "pathogenic (recessive)" "" "0000906660" "0" "50" "12" "103240713" "103240713" "subst" "0" "00006" "PAH_000943" "g.103240713G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:366} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846935G>T" "" "VUS" "" "0000906661" "0" "90" "12" "103240713" "103240713" "subst" "0" "00006" "PAH_000059" "g.103240713G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:367} with 3D model" "" "" "allelic phenotype value 3.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102846935G>A" "" "pathogenic (recessive)" "" "0000906662" "0" "90" "12" "103240703" "103240713" "del" "0" "00006" "PAH_000932" "g.103240703_103240713del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:369}" "" "c.929_939del11" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846925_102846935del" "" "pathogenic (recessive)" "" "0000906663" "0" "90" "12" "103240710" "103240710" "subst" "2.03212E-5" "00006" "PAH_000058" "g.103240710A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:370} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846932A>G" "" "pathogenic (recessive)" "" "0000906664" "0" "90" "12" "103240709" "103240709" "del" "0" "00006" "PAH_000940" "g.103240709del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:371}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846931del" "" "pathogenic (recessive)" "" "0000906665" "0" "50" "12" "103240707" "103240707" "subst" "0" "00006" "PAH_000936" "g.103240707C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:372} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846929C>T" "" "VUS" "" "0000906666" "0" "90" "12" "103240707" "103240707" "subst" "4.06435E-6" "00006" "PAH_000306" "g.103240707C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:373} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846929C>A" "" "pathogenic (recessive)" "" "0000906667" "0" "50" "12" "103240705" "103240705" "subst" "0" "00006" "PAH_000056" "g.103240705C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:374} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846927C>T" "" "VUS" "" "0000906668" "0" "90" "12" "103240704" "103240704" "subst" "0" "00006" "PAH_000305" "g.103240704G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:375} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102846926G>A" "" "pathogenic (recessive)" "" "0000906669" "0" "50" "12" "103240702" "103240702" "subst" "0" "00006" "PAH_000929" "g.103240702G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:376} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846924G>A" "" "VUS" "" "0000906670" "0" "90" "12" "103240702" "103240702" "subst" "8.12869E-6" "00006" "PAH_000055" "g.103240702G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:377} with 3D model" "" "" "allelic phenotype value 8, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102846924G>T" "" "pathogenic (recessive)" "" "0000906671" "0" "90" "12" "103240702" "103240702" "del" "0" "00006" "PAH_000930" "g.103240702del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:378}" "" "c.941delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846924del" "" "pathogenic (recessive)" "" "0000906672" "0" "90" "12" "103240701" "103240701" "subst" "0" "00006" "PAH_000054" "g.103240701G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:379} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102846923G>T" "" "pathogenic (recessive)" "" "0000906673" "0" "50" "12" "103240699" "103240699" "subst" "8.12896E-6" "00006" "PAH_000928" "g.103240699C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:380} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846921C>A" "" "VUS" "" "0000906674" "0" "50" "12" "103240693" "103240693" "subst" "0" "00006" "PAH_000924" "g.103240693A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:381} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846915A>G" "" "VUS" "" "0000906675" "0" "50" "12" "103240689" "103240689" "subst" "4.06431E-6" "00006" "PAH_000921" "g.103240689A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:382} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846911A>G" "" "VUS" "" "0000906676" "0" "90" "12" "103240682" "103240682" "subst" "0" "00006" "PAH_000917" "g.103240682C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:383} with 3D model" "" "" "allelic phenotype value 4.4, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102846904C>G" "" "pathogenic (recessive)" "" "0000906677" "0" "50" "12" "103240679" "103240679" "subst" "0.00375182" "00006" "PAH_000914" "g.103240679G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:384} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846901G>A" "" "VUS" "" "0000906678" "0" "90" "12" "103240678" "103240678" "subst" "7.31755E-5" "00006" "PAH_000913" "g.103240678C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:385} with 3D model" "" "" "allelic phenotype value 9.2, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102846900C>T" "" "pathogenic (recessive)" "" "0000906679" "0" "50" "12" "103240677" "103240677" "subst" "0" "00006" "PAH_000912" "g.103240677G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:386} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846899G>A" "" "VUS" "" "0000906680" "0" "90" "12" "103240677" "103240677" "subst" "5.69101E-5" "00006" "PAH_000416" "g.103240677G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:387} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102846899G>C" "" "pathogenic (recessive)" "" "0000906681" "0" "90" "12" "103240673" "103240675" "del" "8.13114E-6" "00006" "PAH_000304" "g.103240673_103240675del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:388}, {BIOPKU:1446}" "" "c.967_969delACA, c.968_970del" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846895_102846897del" "" "pathogenic (recessive)" "" "0000906682" "0" "50" "12" "103240673" "103240673" "subst" "0" "00006" "PAH_000910" "g.103240673T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:389} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846895T>C" "" "VUS" "" "0000906683" "0" "90" "12" "103240672" "103240672" "subst" "0" "00006" "PAH_000415" "g.103240672C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:390}" "" "IVS9+1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846894C>T" "" "pathogenic (recessive)" "" "0000906684" "0" "90" "12" "103240671" "103240671" "dup" "0" "00006" "PAH_000907" "g.103240671dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:391}" "" "IVS9+2dup, 969+2insT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846893dup" "" "pathogenic (recessive)" "" "0000906685" "0" "90" "12" "103240668" "103240668" "subst" "0" "00006" "PAH_000487" "g.103240668C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:392}" "" "IVS9+5G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846890C>T" "" "pathogenic (recessive)" "" "0000906686" "0" "90" "12" "103240667" "103240667" "subst" "4.47245E-5" "00006" "PAH_000202" "g.103240667A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:393}" "" "IVS9+6T>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846889A>T" "" "pathogenic (recessive)" "" "0000906687" "0" "50" "12" "103240639" "103240639" "subst" "0" "00006" "PAH_000902" "g.103240639C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:394}" "" "IVS9+34G>A" "" "Unknown" "" "" "0" "" "" "g.102846861C>T" "" "VUS" "" "0000906688" "0" "50" "12" "103240630" "103240630" "subst" "0.353326" "00006" "PAH_000153" "g.103240630C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:395}" "" "IVS9+43G>T" "" "Unknown" "" "" "0" "" "" "g.102846852C>A" "" "VUS" "" "0000906689" "0" "90" "12" "103238216" "103238216" "subst" "4.08507E-6" "00006" "PAH_000897" "g.103238216T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:396}" "" "IVS9-7A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844438T>C" "" "pathogenic (recessive)" "" "0000906690" "0" "90" "12" "103238215" "103238215" "subst" "0" "00006" "PAH_000896" "g.103238215A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:397}" "" "IVS9-6T>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844437A>C" "" "pathogenic (recessive)" "" "0000906691" "0" "90" "12" "103238214" "103238214" "subst" "0" "00006" "PAH_000895" "g.103238214A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:398}" "" "IVS9-5T>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844436A>T" "" "pathogenic (recessive)" "" "0000906692" "0" "90" "12" "103238211" "103238211" "subst" "0" "00006" "PAH_000892" "g.103238211T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:399}" "" "IVS9-2A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844433T>C" "" "pathogenic (recessive)" "" "0000906693" "0" "90" "12" "103238211" "103238211" "subst" "0" "00006" "PAH_000893" "g.103238211T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:400}" "" "IVS9-2A>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844433T>G" "" "pathogenic (recessive)" "" "0000906694" "0" "90" "12" "103238210" "103238210" "subst" "0" "00006" "PAH_000486" "g.103238210C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:401}" "" "IVS9-1G>T" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844432C>A" "" "pathogenic (recessive)" "" "0000906695" "0" "50" "12" "103238209" "103238209" "subst" "0" "00006" "PAH_000889" "g.103238209T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:402} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844431T>C" "" "VUS" "" "0000906696" "0" "90" "12" "103238208" "103238208" "subst" "0" "00006" "PAH_000302" "g.103238208A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:403} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844430A>T" "" "pathogenic (recessive)" "" "0000906697" "0" "90" "12" "103238205" "103238205" "subst" "4.07508E-6" "00006" "PAH_000546" "g.103238205T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:404} with 3D model" "" "" "allelic phenotype value 1, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844427T>C" "" "pathogenic (recessive)" "" "0000906698" "0" "90" "12" "103238204" "103238204" "subst" "4.07531E-6" "00006" "PAH_000229" "g.103238204G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:405} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844426G>C" "" "pathogenic (recessive)" "" "0000906699" "0" "90" "12" "103238203" "103238203" "del" "0" "00006" "PAH_000887" "g.103238203del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:406}" "" "c.976delT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844425del" "" "pathogenic (recessive)" "" "0000906700" "0" "50" "12" "103238202" "103238202" "subst" "0" "00006" "PAH_000886" "g.103238202C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:407} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844424C>G" "" "VUS" "" "0000906701" "0" "90" "12" "103238202" "103238202" "subst" "4.07325E-6" "00006" "PAH_000301" "g.103238202C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:408} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844424C>T" "" "pathogenic (recessive)" "" "0000906702" "0" "50" "12" "103238198" "103238198" "subst" "0" "00006" "PAH_000883" "g.103238198A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:409} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844420A>C" "" "VUS" "" "0000906703" "0" "50" "12" "103238197" "103238197" "subst" "1.22133E-5" "00006" "PAH_000881" "g.103238197T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:410} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844419T>C" "" "VUS" "" "0000906704" "0" "50" "12" "103238189" "103238189" "subst" "0" "00006" "PAH_000877" "g.103238189C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:411} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844411C>G" "" "VUS" "" "0000906705" "0" "50" "12" "103238188" "103238188" "subst" "0" "00006" "PAH_000876" "g.103238188A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:412} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844410A>G" "" "VUS" "" "0000906706" "0" "50" "12" "103238187" "103238187" "subst" "0" "00006" "PAH_000051" "g.103238187A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:413} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844409A>C" "" "VUS" "" "0000906707" "0" "50" "12" "103238184" "103238184" "subst" "0" "00006" "PAH_000298" "g.103238184C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:414} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844406C>T" "" "VUS" "" "0000906708" "0" "90" "12" "103238184" "103238184" "subst" "0" "00006" "PAH_000875" "g.103238184C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:415} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844406C>A" "" "pathogenic (recessive)" "" "0000906709" "0" "90" "12" "103238182" "103238182" "subst" "0" "00006" "PAH_000874" "g.103238182G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:416} with 3D model" "" "" "allelic phenotype value 5.0, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102844404G>A" "" "pathogenic (recessive)" "" "0000906710" "0" "50" "12" "103238178" "103238178" "subst" "0" "00006" "PAH_000869" "g.103238178C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:417} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844400C>G" "" "VUS" "" "0000906711" "0" "90" "12" "103238173" "103238173" "subst" "0" "00006" "PAH_000864" "g.103238173G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:418} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844395G>A" "" "pathogenic (recessive)" "" "0000906712" "0" "50" "12" "103238172" "103238172" "subst" "0" "00006" "PAH_000863" "g.103238172T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:419} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844394T>C" "" "VUS" "" "0000906713" "0" "50" "12" "103238169" "103238169" "subst" "0" "00006" "PAH_000861" "g.103238169C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:420} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844391C>A" "" "VUS" "" "0000906714" "0" "90" "12" "103238167" "103238167" "subst" "8.1314E-6" "00006" "PAH_000297" "g.103238167C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:421} with 3D model" "" "" "allelic phenotype value 5.4, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102844389C>A" "" "pathogenic (recessive)" "" "0000906715" "0" "50" "12" "103238160" "103238160" "subst" "0" "00006" "PAH_000857" "g.103238160A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:422} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844382A>G" "" "VUS" "" "0000906716" "0" "90" "12" "103238158" "103238158" "subst" "0" "00006" "PAH_000856" "g.103238158T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:423} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844380T>A" "" "pathogenic (recessive)" "" "0000906717" "0" "50" "12" "103238157" "103238157" "subst" "0" "00006" "PAH_000854" "g.103238157T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:424} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844379T>C" "" "VUS" "" "0000906718" "0" "50" "12" "103238157" "103238157" "subst" "0" "00006" "PAH_000855" "g.103238157T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:425} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844379T>G" "" "VUS" "" "0000906719" "0" "90" "12" "103238155" "103238155" "subst" "0" "00006" "PAH_000295" "g.103238155C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:426} with 3D model" "" "" "allelic phenotype value 2.5, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102844377C>T" "" "pathogenic (recessive)" "" "0000906720" "0" "90" "12" "103238155" "103238155" "subst" "0" "00006" "PAH_000850" "g.103238155C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:427} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844377C>G" "" "pathogenic (recessive)" "" "0000906721" "0" "90" "12" "103238156" "103238156" "del" "0" "00006" "PAH_000851" "g.103238156del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:428}" "" "c.1023delG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844378del" "" "pathogenic (recessive)" "" "0000906722" "0" "50" "12" "103238152" "103238152" "subst" "0" "00006" "PAH_000846" "g.103238152A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:429} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844374A>C" "" "VUS" "" "0000906723" "0" "90" "12" "103238151" "103238151" "subst" "0" "00006" "PAH_000050" "g.103238151T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:430} with 3D model" "" "" "allelic phenotype value 4, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102844373T>C" "" "pathogenic (recessive)" "" "0000906724" "0" "50" "12" "103238151" "103238151" "subst" "0" "00006" "PAH_000845" "g.103238151T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:431} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844373T>A" "" "VUS" "" "0000906725" "0" "50" "12" "103238149" "103238149" "subst" "0" "00006" "PAH_000544" "g.103238149C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:432} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844371C>G" "" "VUS" "" "0000906726" "0" "50" "12" "103238149" "103238149" "subst" "0" "00006" "PAH_000049" "g.103238149C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:433} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844371C>T" "" "VUS" "" "0000906727" "0" "50" "12" "103238148" "103238148" "subst" "0" "00006" "PAH_000294" "g.103238148C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:434} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844370C>T" "" "VUS" "" "0000906728" "0" "50" "12" "103238148" "103238148" "subst" "0" "00006" "PAH_000543" "g.103238148C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:435} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844370C>A" "" "VUS" "" "0000906729" "0" "90" "12" "103238146" "103238146" "subst" "0" "00006" "PAH_000228" "g.103238146C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:436} with 3D model" "" "" "allelic phenotype value 2.2, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102844368C>T" "" "pathogenic (recessive)" "" "0000906730" "0" "90" "12" "103238146" "103238146" "subst" "1.62588E-5" "00006" "PAH_000842" "g.103238146C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:437} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102844368C>A" "" "pathogenic (recessive)" "" "0000906731" "0" "50" "12" "103238143" "103238143" "subst" "0" "00006" "PAH_000839" "g.103238143C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:438} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844365C>T" "" "VUS" "" "0000906732" "0" "50" "12" "103238143" "103238143" "subst" "0" "00006" "PAH_000840" "g.103238143C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:439} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844365C>G" "" "VUS" "" "0000906733" "0" "90" "12" "103238143" "103238143" "del" "0" "00006" "PAH_000841" "g.103238143del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:440}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844365del" "" "pathogenic (recessive)" "" "0000906734" "0" "50" "12" "103238140" "103238140" "subst" "0" "00006" "PAH_000837" "g.103238140G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:441} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844362G>A" "" "VUS" "" "0000906735" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:442} with 3D model" "" "" "allelic phenotype value 1.6, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844359G>C" "" "pathogenic (recessive)" "" "0000906736" "0" "90" "12" "103238126" "103238136" "del" "0" "00006" "PAH_000828" "g.103238126_103238136del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:443}" "" "c.1043_1053del11" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844348_102844358del" "" "pathogenic (recessive)" "" "0000906737" "0" "90" "12" "103238132" "103238135" "dup" "0" "00006" "PAH_000831" "g.103238132_103238135dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:444}" "" "c.1044_1047dupGTCA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844354_102844357dup" "" "pathogenic (recessive)" "" "0000906738" "0" "90" "12" "103238134" "103238134" "subst" "0" "00006" "PAH_000250" "g.103238134A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:445} with 3D model" "" "" "allelic phenotype value 2.3, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102844356A>C" "" "pathogenic (recessive)" "" "0000906739" "0" "90" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:446} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844356A>G" "" "pathogenic (recessive)" "" "0000906740" "0" "90" "12" "103238133" "103238133" "subst" "0" "00006" "PAH_000832" "g.103238133G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:447} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844355G>T" "" "pathogenic (recessive)" "" "0000906741" "0" "90" "12" "103238133" "103238133" "subst" "0" "00006" "PAH_000833" "g.103238133G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:448} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844355G>A" "" "pathogenic (recessive)" "" "0000906742" "0" "90" "12" "103238131" "103238131" "subst" "0" "00006" "PAH_000830" "g.103238131A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:450} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844353A>T" "" "pathogenic (recessive)" "" "0000906743" "0" "90" "12" "103238130" "103238130" "subst" "0" "00006" "PAH_000485" "g.103238130G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:451} with 3D model" "" "" "allelic phenotype value 0.4, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844352G>T" "" "pathogenic (recessive)" "" "0000906744" "0" "50" "12" "103238125" "103238125" "subst" "0" "00006" "PAH_000293" "g.103238125C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:452} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844347C>G" "" "VUS" "" "0000906745" "0" "90" "12" "103238125" "103238125" "subst" "0" "00006" "PAH_000827" "g.103238125C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:453} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102844347C>A" "" "pathogenic (recessive)" "" "0000906746" "0" "90" "12" "103238125" "103238125" "del" "0" "00006" "PAH_000002" "g.103238125del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:454}" "" "c.1055del" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844347del" "" "pathogenic (recessive)" "" "0000906747" "0" "90" "12" "103238123" "103238123" "del" "0" "00006" "PAH_000826" "g.103238123del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:455}" "" "c.1056delT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844345del" "" "pathogenic (recessive)" "" "0000906748" "0" "90" "12" "103238122" "103238122" "del" "0" "00006" "PAH_000824" "g.103238122del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:456}" "" "c.1057delG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844344del" "" "pathogenic (recessive)" "" "0000906749" "0" "90" "12" "103238116" "103238116" "subst" "0" "00006" "PAH_000820" "g.103238116G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:457}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844338G>A" "" "pathogenic (recessive)" "" "0000906750" "0" "90" "12" "103238113" "103238113" "subst" "4.06643E-6" "00006" "PAH_000414" "g.103238113C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:458}" "" "IVS10+1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844335C>T" "" "pathogenic (recessive)" "" "0000906751" "0" "90" "12" "103238113" "103238113" "subst" "0" "00006" "PAH_000819" "g.103238113C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:459}" "" "IVS10+1G>T" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844335C>A" "" "pathogenic (recessive)" "" "0000906752" "0" "90" "12" "103238111" "103238111" "subst" "0" "00006" "PAH_000817" "g.103238111T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:460}" "" "IVS10+3A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844333T>C" "" "pathogenic (recessive)" "" "0000906753" "0" "50" "12" "103238111" "103238111" "subst" "0" "00006" "PAH_000818" "g.103238111T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:461}" "" "IVS10+3A>C" "" "Unknown" "" "" "0" "" "" "g.102844333T>G" "" "VUS" "" "0000906754" "0" "50" "12" "103238107" "103238107" "subst" "0" "00006" "PAH_000816" "g.103238107G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:462}" "" "IVS10+7C>A" "" "Unknown" "" "" "0" "" "" "g.102844329G>T" "" "VUS" "" "0000906755" "0" "50" "12" "103238082" "103238082" "subst" "0" "00006" "PAH_000811" "g.103238082A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:463}" "" "IVS10+32T>A" "" "Unknown" "" "" "0" "" "" "g.102844304A>T" "" "VUS" "" "0000906756" "0" "50" "12" "103238075" "103238075" "subst" "0.000115249" "00006" "PAH_000810" "g.103238075C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:464}" "" "IVS10+39G>T" "" "Unknown" "" "" "0" "" "" "g.102844297C>A" "" "VUS" "" "0000906757" "0" "50" "12" "103238017" "103238017" "subst" "0" "00006" "PAH_000151" "g.103238017C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:465}" "" "IVS10+97G>A" "" "Unknown" "" "" "0" "" "" "g.102844239C>T" "" "VUS" "" "0000906758" "0" "50" "12" "103237588" "103237588" "subst" "0" "00006" "PAH_000805" "g.103237588C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:466}" "" "IVS10-31G>A" "" "Unknown" "" "" "0" "" "" "g.102843810C>T" "" "VUS" "" "0000906759" "0" "90" "12" "103237571" "103237571" "subst" "0" "00006" "PAH_000291" "g.103237571G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:467}" "" "IVS10-14C>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843793G>C" "" "pathogenic (recessive)" "" "0000906760" "0" "90" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:468}" "" "IVS10-11G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843790C>T" "" "pathogenic (recessive)" "" "0000906761" "0" "90" "12" "103237567" "103237567" "subst" "0" "00006" "PAH_000802" "g.103237567C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:469}" "" "IVS10-10G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843789C>T" "" "pathogenic (recessive)" "" "0000906762" "0" "50" "12" "103237564" "103237564" "subst" "4.07252E-6" "00006" "PAH_000799" "g.103237564G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:470}" "" "IVS10-7C>A" "" "Unknown" "" "" "0" "" "" "g.102843786G>T" "" "VUS" "" "0000906763" "0" "90" "12" "103237560" "103237560" "subst" "0" "00006" "PAH_000796" "g.103237560G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:471}" "" "IVS10-3C>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843782G>C" "" "pathogenic (recessive)" "" "0000906764" "0" "90" "12" "103237560" "103237560" "subst" "4.4769E-5" "00006" "PAH_000038" "g.103237560G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:472}" "" "IVS10-3C>T" "allelic phenotype value 1, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843782G>A" "" "pathogenic (recessive)" "" "0000906765" "0" "90" "12" "103237559" "103237559" "subst" "0" "00006" "PAH_000413" "g.103237559T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:473}" "" "IVS10-2A>T" "" "Unknown" "" "" "0" "" "" "g.102843781T>A" "" "pathogenic (recessive)" "" "0000906766" "0" "90" "12" "103237558" "103237558" "subst" "0" "00006" "PAH_000793" "g.103237558C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:474}" "" "IVS10-1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843780C>T" "" "pathogenic (recessive)" "" "0000906767" "0" "50" "12" "103237557" "103237557" "subst" "8.13736E-5" "00006" "PAH_000791" "g.103237557A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:475} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843779A>G" "" "VUS" "" "0000906768" "0" "90" "12" "103237555" "103237555" "subst" "1.2206E-5" "00006" "PAH_000226" "g.103237555G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:476} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843777G>T" "" "pathogenic (recessive)" "" "0000906769" "0" "90" "12" "103237555" "103237555" "subst" "1.62747E-5" "00006" "PAH_000290" "g.103237555G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:477} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843777G>C" "" "pathogenic (recessive)" "" "0000906770" "0" "50" "12" "103237554" "103237554" "subst" "0" "00006" "PAH_000788" "g.103237554A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:478} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843776A>C" "" "VUS" "" "0000906771" "0" "90" "12" "103237553" "103237553" "subst" "4.06825E-6" "00006" "PAH_000787" "g.103237553C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:479} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102843775C>T" "" "pathogenic (recessive)" "" "0000906772" "0" "90" "12" "103237552" "103237552" "subst" "0" "00006" "PAH_000784" "g.103237552G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:480} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843774G>T" "" "pathogenic (recessive)" "" "0000906773" "0" "90" "12" "103237547" "103237547" "subst" "0" "00006" "PAH_000779" "g.103237547G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:481}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843769G>C" "" "pathogenic (recessive)" "" "0000906774" "0" "90" "12" "103237545" "103237545" "subst" "0" "00006" "PAH_000778" "g.103237545C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:482}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843767C>A" "" "pathogenic (recessive)" "" "0000906775" "0" "90" "12" "103237539" "103237539" "subst" "0" "00006" "PAH_000481" "g.103237539G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:483} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843761G>T" "" "pathogenic (recessive)" "" "0000906776" "0" "50" "12" "103237538" "103237538" "subst" "0" "00006" "PAH_000773" "g.103237538G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:484} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843760G>A" "" "VUS" "" "0000906777" "0" "90" "12" "103237536" "103237537" "del" "0" "00006" "PAH_000772" "g.103237536_103237537del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:485}" "" "c.1087_1088delAA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843758_102843759del" "" "pathogenic (recessive)" "" "0000906778" "0" "50" "12" "103237534" "103237534" "subst" "0" "00006" "PAH_000769" "g.103237534C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:486} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843756C>A" "" "VUS" "" "0000906779" "0" "90" "12" "103237534" "103237534" "del" "0" "00006" "PAH_000289" "g.103237534del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:487}" "" "c.1089delG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843756del" "" "pathogenic (recessive)" "" "0000906780" "0" "90" "12" "103237521" "103237535" "del" "0" "00006" "PAH_000751" "g.103237521_103237535del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:488}" "" "c.1092_1106del15" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843743_102843757del" "" "pathogenic (recessive)" "" "0000906781" "0" "90" "12" "103237531" "103237533" "del" "0" "00006" "PAH_000767" "g.103237531_103237533del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:489}" "" "c.1092_1094delTCT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843753_102843755del" "" "pathogenic (recessive)" "" "0000906782" "0" "90" "12" "103237526" "103237526" "subst" "0" "00006" "PAH_000757" "g.103237526G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:490} with 3D model" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843748G>T" "" "pathogenic (recessive)" "" "0000906783" "0" "90" "12" "103237528" "103237528" "del" "0" "00006" "PAH_000761" "g.103237528del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:492}" "" "c.1099delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843750del" "" "pathogenic (recessive)" "" "0000906784" "0" "50" "12" "103237524" "103237524" "subst" "0" "00006" "PAH_000755" "g.103237524G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:493} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843746G>C" "" "VUS" "" "0000906785" "0" "90" "12" "103237528" "103237528" "dup" "0" "00006" "PAH_000762" "g.103237528dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:494}" "" "c.1099dupC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843750dup" "" "pathogenic (recessive)" "" "0000906786" "0" "50" "12" "103237523" "103237523" "subst" "0" "00006" "PAH_000753" "g.103237523A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:495} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843745A>G" "" "VUS" "" "0000906787" "0" "50" "12" "103237523" "103237523" "subst" "0" "00006" "PAH_000754" "g.103237523A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:496} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843745A>C" "" "VUS" "" "0000906788" "0" "50" "12" "103237522" "103237522" "subst" "0" "00006" "PAH_000752" "g.103237522C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:497} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843744C>T" "" "VUS" "" "0000906789" "0" "50" "12" "103237518" "103237518" "subst" "0" "00006" "PAH_000749" "g.103237518G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:498} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843740G>C" "" "VUS" "" "0000906790" "0" "90" "12" "103237511" "103237511" "subst" "0" "00006" "PAH_000744" "g.103237511T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:499} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843733T>C" "" "pathogenic (recessive)" "" "0000906791" "0" "90" "12" "103237509" "103237509" "subst" "4.06382E-6" "00006" "PAH_000036" "g.103237509T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:500} with 3D model" "" "" "allelic phenotype value 8.5, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843731T>A" "" "pathogenic (recessive)" "" "0000906792" "0" "90" "12" "103237505" "103237506" "del" "0" "00006" "PAH_000468" "g.103237505_103237506del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:501}" "" "c.1117_1118delGC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843727_102843728del" "" "pathogenic (recessive)" "" "0000906793" "0" "50" "12" "103237506" "103237506" "subst" "0" "00006" "PAH_000742" "g.103237506C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:502} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843728C>T" "" "VUS" "" "0000906794" "0" "50" "12" "103237499" "103237499" "subst" "0" "00006" "PAH_000011" "g.103237499T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:503} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843721T>C" "" "VUS" "" "0000906795" "0" "90" "12" "103237499" "103237499" "del" "0" "00006" "PAH_000201" "g.103237499del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:504}" "" "c.1127delA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843721del" "" "pathogenic (recessive)" "" "0000906796" "0" "90" "12" "103237495" "103237495" "del" "0" "00006" "PAH_000737" "g.103237495del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:505}" "" "c.1129delT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843717del" "" "pathogenic (recessive)" "" "0000906797" "0" "50" "12" "103237494" "103237494" "subst" "0" "00006" "PAH_000736" "g.103237494A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:506} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843716A>C" "" "VUS" "" "0000906798" "0" "50" "12" "103237493" "103237493" "subst" "4.06395E-6" "00006" "PAH_000735" "g.103237493T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:507} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843715T>C" "" "VUS" "" "0000906799" "0" "50" "12" "103237491" "103237491" "subst" "0" "00006" "PAH_000734" "g.103237491T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:508} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843713T>A" "" "VUS" "" "0000906800" "0" "50" "12" "103237487" "103237487" "subst" "2.43857E-5" "00006" "PAH_000731" "g.103237487A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:509} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843709A>G" "" "VUS" "" "0000906801" "0" "90" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:510} with 3D model" "" "" "allelic phenotype value 9.9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843706G>A" "" "pathogenic (recessive)" "" "0000906802" "0" "50" "12" "103237477" "103237477" "subst" "0" "00006" "PAH_000725" "g.103237477G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:511} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843699G>C" "" "VUS" "" "0000906803" "0" "90" "12" "103237476" "103237476" "subst" "0" "00006" "PAH_000724" "g.103237476G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:512}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843698G>A" "" "pathogenic (recessive)" "" "0000906804" "0" "50" "12" "103237468" "103237468" "=" "0.861674" "00006" "PAH_000014" "g.103237468G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:513} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843690G>C" "" "VUS" "" "0000906805" "0" "50" "12" "103237467" "103237467" "subst" "0" "00006" "PAH_000716" "g.103237467A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:514} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843689A>C" "" "VUS" "" "0000906806" "0" "90" "12" "103237466" "103237466" "subst" "2.03216E-5" "00006" "PAH_000200" "g.103237466T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:515} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843688T>C" "" "pathogenic (recessive)" "" "0000906807" "0" "50" "12" "103237464" "103237464" "subst" "0" "00006" "PAH_000285" "g.103237464A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:516} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843686A>C" "" "VUS" "" "0000906808" "0" "90" "12" "103237464" "103237464" "subst" "0" "00006" "PAH_000541" "g.103237464A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:517} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843686A>G" "" "pathogenic (recessive)" "" "0000906809" "0" "90" "12" "103237462" "103237462" "subst" "0" "00006" "PAH_000712" "g.103237462G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:518} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843684G>T" "" "pathogenic (recessive)" "" "0000906810" "0" "90" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:519} with 3D model" "" "" "allelic phenotype value 2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843683C>T" "" "pathogenic (recessive)" "" "0000906811" "0" "90" "12" "103237461" "103237461" "subst" "0" "00006" "PAH_000711" "g.103237461C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:520} with 3D model" "" "" "allelic phenotype value 8.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843683C>G" "" "pathogenic (recessive)" "" "0000906812" "0" "90" "12" "103237460" "103237461" "del" "0" "00006" "PAH_000540" "g.103237460_103237461del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:521}" "" "c.1162_1163delGT, c.1163_1164delTG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843682_102843683del" "" "pathogenic (recessive)" "" "0000906813" "0" "50" "12" "103237457" "103237457" "subst" "0" "00006" "PAH_000708" "g.103237457G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:522} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843679G>T" "" "VUS" "" "0000906814" "0" "50" "12" "103237457" "103237457" "subst" "0" "00006" "PAH_000709" "g.103237457G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:523} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843679G>C" "" "VUS" "" "0000906815" "0" "90" "12" "103237457" "103237457" "del" "0" "00006" "PAH_000710" "g.103237457del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:524}" "" "c.1166delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843679del" "" "pathogenic (recessive)" "" "0000906816" "0" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:525} with 3D model" "" "" "allelic phenotype value 6.8, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000906817" "0" "90" "12" "103237455" "103237456" "del" "0" "00006" "PAH_000706" "g.103237455_103237456del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:526}" "" "c.1171_1172delAG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843677_102843678del" "" "pathogenic (recessive)" "" "0000906818" "0" "90" "12" "103237451" "103237451" "subst" "0" "00006" "PAH_000701" "g.103237451C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:527} with 3D model" "" "" "allelic phenotype value 3.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102843673C>A" "" "pathogenic (recessive)" "" "0000906819" "0" "50" "12" "103237448" "103237448" "subst" "0" "00006" "PAH_000700" "g.103237448A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:528} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843670A>G" "" "VUS" "" "0000906820" "0" "90" "12" "103237445" "103237446" "ins" "0" "00006" "PAH_000478" "g.103237445_103237446insA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:529}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843667_102843668insA" "" "pathogenic (recessive)" "" "0000906821" "0" "90" "12" "103237443" "103237443" "subst" "0" "00006" "PAH_000698" "g.103237443C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:530} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843665C>G" "" "pathogenic (recessive)" "" "0000906822" "0" "50" "12" "103237442" "103237442" "subst" "0" "00006" "PAH_000179" "g.103237442T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:531} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843664T>G" "" "VUS" "" "0000906823" "0" "90" "12" "103237440" "103237440" "subst" "2.03194E-5" "00006" "PAH_000539" "g.103237440C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:532} with 3D model" "" "" "allelic phenotype value 0.8, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843662C>G" "" "pathogenic (recessive)" "" "0000906824" "0" "50" "12" "103237439" "103237439" "subst" "0" "00006" "PAH_000696" "g.103237439G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:533} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843661G>T" "" "VUS" "" "0000906825" "0" "90" "12" "103237439" "103237439" "subst" "4.06395E-6" "00006" "PAH_000283" "g.103237439G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:534} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102843661G>C" "" "pathogenic (recessive)" "" "0000906826" "0" "90" "12" "103237436" "103237436" "subst" "4.06388E-6" "00006" "PAH_000218" "g.103237436T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:535} with 3D model" "" "" "allelic phenotype value 6.7, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102843658T>C" "" "pathogenic (recessive)" "" "0000906827" "0" "50" "12" "103237429" "103237429" "subst" "4.06359E-6" "00006" "PAH_000690" "g.103237429T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:536} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843651T>C" "" "VUS" "" "0000906828" "0" "50" "12" "103237429" "103237429" "subst" "0" "00006" "PAH_000691" "g.103237429T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:537} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843651T>G" "" "VUS" "" "0000906829" "0" "90" "12" "103237427" "103237427" "subst" "0" "00006" "PAH_000407" "g.103237427A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:538} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843649A>G" "" "pathogenic (recessive)" "" "0000906830" "0" "90" "12" "103237427" "103237430" "del" "0" "00006" "PAH_000477" "g.103237427_103237430del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:539}" "" "c.1196_1199delTAAG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843649_102843652del" "" "pathogenic (recessive)" "" "0000906831" "0" "90" "12" "103237426" "103237426" "subst" "4.06398E-6" "00006" "PAH_000149" "g.103237426T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:540} with 3D model" "" "" "allelic phenotype value 1.3, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843648T>A" "" "pathogenic (recessive)" "" "0000906832" "0" "50" "12" "103237425" "103237425" "subst" "4.06392E-6" "00006" "PAH_000029" "g.103237425T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:541} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843647T>G" "" "VUS" "" "0000906833" "0" "90" "12" "103237426" "103237426" "del" "0" "00006" "PAH_000689" "g.103237426del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:542}" "" "c.1198delA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843648del" "" "pathogenic (recessive)" "" "0000906834" "0" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000224" "g.103237424C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:543} with 3D model" "" "" "allelic phenotype value 3.1, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102843646C>G" "" "pathogenic (recessive)" "" "0000906835" "0" "90" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000186" "g.103237424C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:544} with 3D model" "" "" "allelic phenotype value 1.4, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843646C>T" "" "pathogenic (recessive)" "" "0000906836" "0" "90" "12" "103237423" "103237423" "subst" "0" "00006" "PAH_000688" "g.103237423C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:545}" "" "IVS11+1G>T" "" "Unknown" "" "" "0" "" "" "g.102843645C>A" "" "pathogenic (recessive)" "" "0000906837" "0" "90" "12" "103237423" "103237423" "subst" "8.12856E-6" "00006" "PAH_000282" "g.103237423C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:546}" "" "IVS11+1G>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843645C>G" "" "pathogenic (recessive)" "" "0000906838" "0" "90" "12" "103237423" "103237423" "subst" "4.06428E-6" "00006" "PAH_000281" "g.103237423C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:547}" "" "IVS11+1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843645C>T" "" "pathogenic (recessive)" "" "0000906839" "0" "90" "12" "103237422" "103237422" "subst" "0" "00006" "PAH_000686" "g.103237422A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:548}" "" "IVS11+2T>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843644A>G" "" "pathogenic (recessive)" "" "0000906840" "0" "90" "12" "103237419" "103237419" "subst" "0" "00006" "PAH_000406" "g.103237419C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:549}" "" "IVS11+5G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843641C>T" "" "pathogenic (recessive)" "" "0000906841" "0" "90" "12" "103237419" "103237419" "subst" "0" "00006" "PAH_000684" "g.103237419C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:550}" "" "IVS11+5G>T" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843641C>A" "" "pathogenic (recessive)" "" "0000906842" "0" "90" "12" "103237407" "103237407" "subst" "0" "00006" "PAH_000280" "g.103237407C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:551}" "" "IVS11+17G>A" "allelic phenotype value 8.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843629C>T" "" "pathogenic (recessive)" "" "0000906843" "0" "50" "12" "103237404" "103237404" "subst" "0" "00006" "PAH_000682" "g.103237404C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:552}" "" "IVS11+20G>C" "" "Unknown" "" "" "0" "" "" "g.102843626C>G" "" "VUS" "" "0000906844" "0" "90" "12" "103234301" "103234301" "subst" "4.06223E-6" "00006" "PAH_000670" "g.103234301C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:553}" "" "IVS11-8G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840523C>T" "" "pathogenic (recessive)" "" "0000906845" "0" "90" "12" "103234295" "103234295" "subst" "0" "00006" "PAH_000475" "g.103234295T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:554}" "" "IVS11-2A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840517T>C" "" "pathogenic (recessive)" "" "0000906846" "0" "90" "12" "103234294" "103234294" "subst" "0" "00006" "PAH_000664" "g.103234294C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:556}" "" "IVS11-1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840516C>T" "" "pathogenic (recessive)" "" "0000906847" "0" "90" "12" "103234294" "103234294" "del" "0" "00006" "PAH_000665" "g.103234294del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:557}, {BIOPKU:1388}" "" "c.1200delG, c.1200-1delG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840516del" "" "pathogenic (recessive)" "" "0000906848" "0" "50" "12" "103234289" "103234289" "subst" "0" "00006" "PAH_000660" "g.103234289A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:558} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840511A>G" "" "VUS" "" "0000906849" "0" "50" "12" "103234289" "103234289" "subst" "0" "00006" "PAH_000661" "g.103234289A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:559} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840511A>T" "" "VUS" "" "0000906850" "0" "50" "12" "103234289" "103234289" "subst" "0" "00006" "PAH_000662" "g.103234289A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:560} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840511A>C" "" "VUS" "" "0000906851" "0" "50" "12" "103234288" "103234288" "subst" "0" "00006" "PAH_000659" "g.103234288A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:561} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840510A>C" "" "VUS" "" "0000906852" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:562} with 3D model" "" "" "allelic phenotype value 9.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102840507G>A" "" "pathogenic (recessive)" "" "0000906853" "0" "90" "12" "103234276" "103234276" "subst" "0" "00006" "PAH_000654" "g.103234276A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:563} with 3D model" "" "" "allelic phenotype value 2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840498A>G" "" "pathogenic (recessive)" "" "0000906854" "0" "90" "12" "103234274" "103234274" "subst" "0" "00006" "PAH_000652" "g.103234274G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:564} with 3D model" "" "" "allelic phenotype value 5.6, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102840496G>A" "" "pathogenic (recessive)" "" "0000906855" "0" "90" "12" "103234274" "103234274" "del" "0" "00006" "PAH_000469" "g.103234274del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:565}" "" "c.1220delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840496del" "" "pathogenic (recessive)" "" "0000906856" "0" "50" "12" "103234273" "103234273" "subst" "0" "00006" "PAH_000650" "g.103234273G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:566} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840495G>A" "" "VUS" "" "0000906857" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:567} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0000906858" "0" "90" "12" "103234271" "103234271" "del" "0" "00006" "PAH_000649" "g.103234271del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:568}" "" "c.1222delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840493del" "" "pathogenic (recessive)" "" "0000906859" "0" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:569} with 3D model" "" "" "allelic phenotype value 5.2, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic (recessive)" "" "0000906860" "0" "50" "12" "103234264" "103234264" "subst" "0" "00006" "PAH_000538" "g.103234264A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:570} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840486A>G" "" "VUS" "" "0000906861" "0" "50" "12" "103234264" "103234264" "subst" "0" "00006" "PAH_000405" "g.103234264A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:571} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840486A>C" "" "VUS" "" "0000906862" "0" "90" "12" "103234261" "103234261" "subst" "0" "00006" "PAH_000644" "g.103234261G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:572}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840483G>C" "" "pathogenic (recessive)" "" "0000906863" "0" "90" "12" "103234261" "103234261" "subst" "0" "00006" "PAH_000645" "g.103234261G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:573}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840483G>T" "" "pathogenic (recessive)" "" "0000906864" "0" "50" "12" "103234256" "103234256" "subst" "0" "00006" "PAH_000638" "g.103234256G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:574} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840478G>C" "" "VUS" "" "0000906865" "0" "50" "12" "103234256" "103234256" "subst" "3.24923E-5" "00006" "PAH_000639" "g.103234256G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:575} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840478G>A" "" "VUS" "" "0000906866" "0" "90" "12" "103234256" "103234256" "subst" "0" "00006" "PAH_000640" "g.103234256G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:576} with 3D model" "" "" "allelic phenotype value 6.7, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102840478G>T" "" "pathogenic (recessive)" "" "0000906867" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:577} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic (recessive)" "" "0000906868" "0" "90" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:578} with 3D model" "" "" "allelic phenotype value 5.1, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102840474T>C" "" "pathogenic (recessive)" "" "0000906869" "0" "50" "12" "103234251" "103234251" "subst" "0.00748536" "00006" "PAH_000020" "g.103234251G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:579} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840473G>A" "" "VUS" "" "0000906870" "0" "90" "12" "103234251" "103234251" "subst" "0" "00006" "PAH_000277" "g.103234251G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:580} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840473G>T" "" "pathogenic (recessive)" "" "0000906871" "0" "50" "12" "103234250" "103234250" "subst" "0" "00006" "PAH_000635" "g.103234250C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:581} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840472C>A" "" "VUS" "" "0000906872" "0" "90" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:582} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102840472C>T" "" "pathogenic (recessive)" "" "0000906873" "0" "50" "12" "103234249" "103234249" "subst" "0" "00006" "PAH_000634" "g.103234249T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:583} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840471T>A" "" "VUS" "" "0000906874" "0" "50" "12" "103234247" "103234247" "subst" "0" "00006" "PAH_000633" "g.103234247G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:584} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840469G>T" "" "VUS" "" "0000906875" "0" "90" "12" "103234246" "103234246" "subst" "4.06144E-6" "00006" "PAH_000632" "g.103234246G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:585} with 3D model" "" "" "allelic phenotype value 2.5, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102840468G>T" "" "pathogenic (recessive)" "" "0000906876" "0" "50" "12" "103234244" "103234244" "subst" "0" "00006" "PAH_000404" "g.103234244A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:586} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840466A>T" "" "VUS" "" "0000906877" "0" "50" "12" "103234244" "103234244" "subst" "0" "00006" "PAH_000629" "g.103234244A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:587} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840466A>C" "" "VUS" "" "0000906878" "0" "50" "12" "103234244" "103234244" "subst" "0" "00006" "PAH_000630" "g.103234244A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:588} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840466A>G" "" "VUS" "" "0000906879" "0" "50" "12" "103234243" "103234243" "subst" "4.06124E-6" "00006" "PAH_000222" "g.103234243T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:589} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840465T>C" "" "VUS" "" "0000906880" "0" "90" "12" "103234241" "103234241" "subst" "4.06134E-6" "00006" "PAH_000276" "g.103234241T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:590} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102840463T>G" "" "pathogenic (recessive)" "" "0000906881" "0" "50" "12" "103234240" "103234240" "subst" "0" "00006" "PAH_000472" "g.103234240G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:591} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840462G>T" "" "VUS" "" "0000906882" "0" "90" "12" "103234237" "103234237" "subst" "8.12262E-6" "00006" "PAH_000275" "g.103234237T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:592} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102840459T>C" "" "pathogenic (recessive)" "" "0000906883" "0" "50" "12" "103234237" "103234237" "subst" "0" "00006" "PAH_000623" "g.103234237T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:593} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840459T>G" "" "VUS" "" "0000906884" "0" "50" "12" "103234231" "103234231" "subst" "0" "00006" "PAH_000619" "g.103234231A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:594} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840453A>C" "" "VUS" "" "0000906885" "0" "90" "12" "103234231" "103234231" "subst" "4.06141E-6" "00006" "PAH_000274" "g.103234231A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:595} with 3D model" "" "" "allelic phenotype value 8.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102840453A>G" "" "pathogenic (recessive)" "" "0000906886" "0" "50" "12" "103234229" "103234229" "subst" "0" "00006" "PAH_000618" "g.103234229C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:596} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840451C>T" "" "VUS" "" "0000906887" "0" "90" "12" "103234224" "103234224" "del" "0" "00006" "PAH_000471" "g.103234224del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:597}" "" "c.1269delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840446del" "" "pathogenic (recessive)" "" "0000906888" "0" "50" "12" "103234222" "103234222" "subst" "0" "00006" "PAH_000614" "g.103234222A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:598} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840444A>G" "" "VUS" "" "0000906889" "0" "50" "12" "103234215" "103234215" "subst" "0.0106044" "00006" "PAH_000613" "g.103234215A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:599}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840437A>G" "" "VUS" "" "0000906890" "0" "90" "12" "103234213" "103234213" "del" "0" "00006" "PAH_000612" "g.103234213del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:600}" "" "c.1282delC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840435del" "" "pathogenic (recessive)" "" "0000906891" "0" "90" "12" "103234204" "103234204" "subst" "0" "00006" "PAH_000272" "g.103234204A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:601}" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102840426A>G" "" "pathogenic (recessive)" "" "0000906892" "0" "90" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:602}" "" "" "allelic phenotype value 3, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102840414G>T" "" "pathogenic (recessive)" "" "0000906893" "0" "90" "12" "103232994" "103232994" "subst" "0" "00006" "PAH_000016" "g.103232994C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:603}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839216C>A" "" "pathogenic (recessive)" "" "0000906894" "0" "90" "12" "103234188" "103234188" "del" "0" "00006" "PAH_000603" "g.103234188del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:604}" "" "c.1306delT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840410del" "" "pathogenic (recessive)" "" "0000906895" "0" "90" "12" "103234177" "103234177" "subst" "0.000389946" "00006" "PAH_000008" "g.103234177C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:605}" "" "IVS12+1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840399C>T" "" "pathogenic (recessive)" "" "0000906896" "0" "90" "12" "103234177" "103234177" "subst" "0" "00006" "PAH_000269" "g.103234177C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:606}" "" "IVS12+1G>T" "" "Unknown" "" "" "0" "" "" "g.102840399C>A" "" "pathogenic (recessive)" "" "0000906897" "0" "90" "12" "103234176" "103234176" "subst" "0" "00006" "PAH_000197" "g.103234176A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:607}" "" "IVS12+2T>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840398A>G" "" "pathogenic (recessive)" "" "0000906898" "0" "90" "12" "103234174" "103234174" "subst" "4.06207E-6" "00006" "PAH_000268" "g.103234174T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:608}" "" "IVS12+4A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840396T>C" "" "pathogenic (recessive)" "" "0000906899" "0" "50" "12" "103234173" "103234173" "subst" "0" "00006" "PAH_000267" "g.103234173C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:609}" "" "IVS12+5G>C" "" "Unknown" "" "" "0" "" "" "g.102840395C>G" "" "VUS" "" "0000906900" "0" "90" "12" "103234172" "103234172" "subst" "0" "00006" "PAH_000220" "g.103234172A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:610}" "" "IVS12+6T>A" "allelic phenotype value 5.6, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102840394A>T" "" "pathogenic (recessive)" "" "0000906901" "0" "50" "12" "103233031" "103233031" "subst" "0.0160816" "00006" "PAH_000173" "g.103233031G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:611}" "" "IVS12-35C>T" "" "Unknown" "" "" "0" "" "" "g.102839253G>A" "" "VUS" "" "0000906902" "0" "50" "12" "103233012" "103233012" "subst" "0" "00006" "PAH_000593" "g.103233012C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:612}" "" "IVS12-16G>T" "" "Unknown" "" "" "0" "" "" "g.102839234C>A" "" "VUS" "" "0000906903" "0" "50" "12" "103233011" "103233011" "subst" "0" "00006" "PAH_000592" "g.103233011A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:613}" "" "IVS12-15T>C" "" "Unknown" "" "" "0" "" "" "g.102839233A>G" "" "VUS" "" "0000906904" "0" "90" "12" "103233001" "103233001" "subst" "0" "00006" "PAH_000590" "g.103233001A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:614}" "" "IVS12-5T>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839223A>G" "" "pathogenic (recessive)" "" "0000906905" "0" "50" "12" "103232973" "103232973" "subst" "0" "00006" "PAH_000265" "g.103232973C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:615}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839195C>G" "" "VUS" "" "0000906906" "0" "50" "12" "103232972" "103232972" "subst" "8.13326E-6" "00006" "PAH_000580" "g.103232972G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:616}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839194G>T" "" "VUS" "" "0000906907" "0" "90" "12" "103232959" "103232959" "dup" "0" "00006" "PAH_000575" "g.103232959dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:617}" "" "c.1355dupA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839181dup" "" "pathogenic (recessive)" "" "0000906908" "0" "90" "12" "103232956" "103232960" "del" "0" "00006" "PAH_000537" "g.103232956_103232960del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:618}" "" "c.1357_1361delTAAAG" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839178_102839182del" "" "pathogenic (recessive)" "" "0000906909" "0" "50" "12" "103232934" "103232934" "subst" "0.00219379" "00006" "PAH_000574" "g.103232934C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:619}, {BIOPKU:1252}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839156C>A" "" "VUS" "" "0000906910" "0" "50" "12" "103232809" "103232809" "subst" "0" "00006" "PAH_000571" "g.103232809T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:620}, {BIOPKU:1249}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839031T>C" "" "VUS" "" "0000906911" "0" "50" "12" "103232766" "103232766" "subst" "0" "00006" "PAH_000570" "g.103232766C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:621}, {BIOPKU:1248}" "" "" "" "Unknown" "" "" "0" "" "" "g.102838988C>T" "" "VUS" "" "0000906912" "0" "90" "12" "103232104" "103311381" "del" "0" "00006" "PAH_000401" "g.(?_103232104)_(103311381_?)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:622}" "" "PAHdel, c.-27778delPAH" "" "Unknown" "" "" "0" "" "" "g.(?_102838326)_(102917603_?)del" "" "pathogenic (recessive)" "" "0000906913" "0" "90" "12" "103311317" "103315075" "del" "0" "00006" "PAH_000262" "g.103311317_103315075del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:623}" "" "-4171_-405del, -4173_–407del" "" "Unknown" "" "" "0" "" "" "g.102917539_102921297del" "" "pathogenic (recessive)" "" "0000906914" "0" "50" "12" "103311133" "103311133" "subst" "0" "00006" "PAH_001645" "g.103311133C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:624}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917355C>T" "" "VUS" "" "0000906915" "0" "50" "12" "103311055" "103311055" "subst" "0" "00006" "PAH_001644" "g.103311055G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:625}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917277G>A" "" "VUS" "" "0000906916" "0" "50" "12" "103310979" "103310979" "subst" "0" "00006" "PAH_000536" "g.103310979T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:626}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917201T>G" "" "VUS" "" "0000906917" "0" "50" "12" "103310909" "103310909" "subst" "0" "00006" "PAH_001640" "g.103310909G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:627}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917131G>A" "" "VUS" "" "0000906918" "0" "90" "12" "103310908" "103310908" "subst" "8.12216E-6" "00006" "PAH_000178" "g.103310908T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:628}" "" "(Met1Val)" "" "Unknown" "" "" "0" "" "" "g.102917130T>C" "" "pathogenic (recessive)" "" "0000906919" "0" "90" "12" "103310908" "103310908" "subst" "0" "00006" "PAH_000217" "g.103310908T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:629}" "" "(Met1Leu)" "" "Unknown" "" "" "0" "" "" "g.102917130T>A" "" "pathogenic (recessive)" "" "0000906920" "0" "90" "12" "103310906" "103310906" "subst" "0" "00006" "PAH_000534" "g.103310906C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:630}" "" "(Met1Ile)" "" "Unknown" "" "" "0" "" "" "g.102917128C>T" "" "pathogenic (recessive)" "" "0000906921" "0" "90" "12" "103306568" "103311381" "del" "0" "00006" "PAH_001546" "g.(103288697_103306568)_(103311381_?)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:631}" "" "del ex1-2, c.1-?_168+?del" "" "Unknown" "" "" "0" "" "" "g.(102894919_102912790)_(102917603_?)del" "" "pathogenic (recessive)" "" "0000906922" "0" "90" "12" "103310907" "103310907" "subst" "0" "00006" "PAH_000562" "g.103310907A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:632}" "" "(Met1Arg)" "" "Unknown" "" "" "0" "" "" "g.102917129A>C" "" "pathogenic (recessive)" "" "0000906923" "0" "50" "12" "103310879" "103310879" "subst" "0.000637584" "00006" "PAH_000142" "g.103310879G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:633}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917101G>C" "" "VUS" "" "0000906924" "0" "90" "12" "103310865" "103310866" "ins" "0" "00006" "PAH_000395" "g.103310865_103310866insCT" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:634}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917087_102917088insCT" "" "pathogenic (recessive)" "" "0000906925" "0" "50" "12" "103310863" "103310863" "subst" "0" "00006" "PAH_001626" "g.103310863A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:635}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917085A>G" "" "VUS" "" "0000906926" "0" "50" "12" "103310862" "103310862" "subst" "0" "00006" "PAH_001625" "g.103310862G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:636}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917084G>T" "" "VUS" "" "0000906927" "0" "90" "12" "103310865" "103310866" "del" "0" "00006" "PAH_000141" "g.103310865_103310866del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:637}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917087_102917088del" "" "pathogenic (recessive)" "" "0000906928" "0" "90" "12" "103310865" "103310866" "dup" "0" "00006" "PAH_001628" "g.103310865_103310866dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:638}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917087_102917088dup" "" "pathogenic (recessive)" "" "0000906929" "0" "90" "12" "103310861" "103310861" "dup" "0" "00006" "PAH_001624" "g.103310861dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:639}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917083dup" "" "pathogenic (recessive)" "" "0000906930" "0" "90" "12" "103310850" "103310854" "del" "0" "00006" "PAH_000394" "g.103310850_103310854del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:641}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917072_102917076del" "" "pathogenic (recessive)" "" "0000906931" "0" "90" "12" "103310851" "103310851" "subst" "0" "00006" "PAH_000533" "g.103310851G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:642}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917073G>A" "" "pathogenic (recessive)" "" "0000906932" "0" "50" "12" "103310850" "103310850" "subst" "0" "00006" "PAH_000561" "g.103310850T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:643}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917072T>A" "" "VUS" "" "0000906933" "0" "90" "12" "103310849" "103310849" "subst" "0" "00006" "PAH_000466" "g.103310849C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:644}" "" "" "allelic phenotype value 2.5, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102917071C>G" "" "pathogenic (recessive)" "" "0000906934" "0" "50" "12" "103310844" "103310844" "subst" "0" "00006" "PAH_000392" "g.103310844C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:645}" "" "IVS1+5G>A" "" "Unknown" "" "" "0" "" "" "g.102917066C>T" "" "VUS" "" "0000906935" "0" "50" "12" "103310844" "103310844" "subst" "7.31155E-5" "00006" "PAH_000139" "g.103310844C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:646}" "" "IVS1+5G>T" "" "Unknown" "" "" "0" "" "" "g.102917066C>A" "" "VUS" "" "0000906936" "0" "50" "12" "103310844" "103310844" "subst" "0" "00006" "PAH_001618" "g.103310844C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:647}" "" "IVS1+5G>C" "" "Unknown" "" "" "0" "" "" "g.102917066C>G" "" "VUS" "" "0000906937" "0" "50" "12" "103310809" "103310809" "subst" "0" "00006" "PAH_001612" "g.103310809A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:648}" "" "IVS1+40T>G" "" "Unknown" "" "" "0" "" "" "g.102917031A>C" "" "VUS" "" "0000906938" "0" "50" "12" "103306672" "103306672" "subst" "8.93917E-5" "00006" "PAH_001600" "g.103306672G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:649}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912894G>T" "" "VUS" "" "0000906939" "0" "90" "12" "103306626" "103306626" "dup" "0" "00006" "PAH_001585" "g.103306626dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:650}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912848dup" "" "pathogenic (recessive)" "" "0000906940" "0" "90" "12" "103306622" "103306624" "del" "0" "00006" "PAH_000216" "g.103306622_103306624del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:653}" "" "c.115_117delTTC, c.116_118delTCT" "allelic phenotype value 0.7-1.2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102912844_102912846del" "" "pathogenic (recessive)" "" "0000906941" "0" "90" "12" "103306620" "103306620" "subst" "9.7492E-5" "00006" "PAH_000182" "g.103306620G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:654}" "" "" "allelic phenotype value 1, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102912842G>C" "" "pathogenic (recessive)" "" "0000906942" "0" "50" "12" "103306618" "103306618" "subst" "0" "00006" "PAH_001582" "g.103306618G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:655}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912840G>A" "" "VUS" "" "0000906943" "0" "50" "12" "103306616" "103306616" "subst" "0" "00006" "PAH_000389" "g.103306616G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:656}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912838G>A" "" "VUS" "" "0000906944" "0" "50" "12" "103306615" "103306615" "subst" "0" "00006" "PAH_000560" "g.103306615A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:657}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912837A>G" "" "VUS" "" "0000906945" "0" "50" "12" "103306612" "103306612" "subst" "0" "00006" "PAH_001579" "g.103306612T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:658}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912834T>A" "" "VUS" "" "0000906946" "0" "50" "12" "103306610" "103306612" "del" "0" "00006" "PAH_001577" "g.103306610_103306612del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:659}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912832_102912834del" "" "VUS" "" "0000906947" "0" "50" "12" "103306603" "103306603" "subst" "0" "00006" "PAH_000388" "g.103306603A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:660}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912825A>G" "" "VUS" "" "0000906948" "0" "90" "12" "103306601" "103306601" "subst" "8.12414E-5" "00006" "PAH_000464" "g.103306601C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:661}" "" "" "allelic phenotype value 1.8, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102912823C>T" "" "pathogenic (recessive)" "" "0000906949" "0" "90" "12" "103306601" "103306601" "del" "0" "00006" "PAH_001570" "g.103306601del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:662}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912823del" "" "pathogenic (recessive)" "" "0000906950" "0" "50" "12" "103306597" "103306597" "subst" "0" "00006" "PAH_001568" "g.103306597G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:663}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912819G>T" "" "VUS" "" "0000906951" "0" "90" "12" "103306597" "103306597" "subst" "4.0621E-6" "00006" "PAH_000532" "g.103306597G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:664}" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102912819G>A" "" "pathogenic (recessive)" "" "0000906952" "0" "90" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:665}" "" "" "allelic phenotype value 2.1, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102912816A>G" "" "pathogenic (recessive)" "" "0000906953" "0" "50" "12" "103306582" "103306582" "subst" "0" "00006" "PAH_001559" "g.103306582A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:666}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912804A>G" "" "VUS" "" "0000906954" "0" "50" "12" "103306580" "103306580" "subst" "3.25005E-5" "00006" "PAH_001556" "g.103306580G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:667}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912802G>A" "" "VUS" "" "0000906955" "0" "90" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:668}" "" "" "allelic phenotype value 8.8, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102912801C>T" "" "pathogenic (recessive)" "" "0000906956" "0" "50" "12" "103306576" "103306576" "subst" "4.0625E-6" "00006" "PAH_001553" "g.103306576A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:669}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912798A>G" "" "VUS" "" "0000906957" "0" "50" "12" "103306572" "103306574" "del" "0" "00006" "PAH_001551" "g.103306572_103306574del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:670}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912794_102912796del" "" "VUS" "" "0000906958" "0" "90" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:671}" "" "" "allelic phenotype value 8.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102912794A>C" "" "pathogenic (recessive)" "" "0000906959" "0" "90" "12" "103306574" "103306574" "del" "0" "00006" "PAH_000215" "g.103306574del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:672}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912796del" "" "pathogenic (recessive)" "" "0000906960" "0" "50" "12" "103306569" "103306569" "subst" "0" "00006" "PAH_001547" "g.103306569C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:673}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912791C>A" "" "VUS" "" "0000906961" "0" "50" "12" "103306569" "103306569" "subst" "0" "00006" "PAH_001548" "g.103306569C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:674}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912791C>T" "" "VUS" "" "0000906962" "0" "90" "12" "103306568" "103306569" "delins" "0" "00006" "PAH_001545" "g.103306568_103306569delinsTT" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:675}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912790_102912791delinsTT" "" "pathogenic (recessive)" "" "0000906963" "0" "90" "12" "103306568" "103306568" "subst" "0" "00006" "PAH_000531" "g.103306568C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:676}" "" "IVS2+1G>A" "" "Unknown" "" "" "0" "" "" "g.102912790C>T" "" "pathogenic (recessive)" "" "0000906964" "0" "90" "12" "103306567" "103306567" "subst" "0" "00006" "PAH_001542" "g.103306567A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:677}" "" "IVS2+2T>C" "" "Unknown" "" "" "0" "" "" "g.102912789A>G" "" "pathogenic (recessive)" "" "0000906965" "0" "50" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000384" "g.103306564C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:678}" "" "IVS2+5G>A" "" "Unknown" "" "" "0" "" "" "g.102912786C>T" "" "VUS" "" "0000906966" "0" "50" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:679}" "" "IVS2+5G>C" "" "Unknown" "" "" "0" "" "" "g.102912786C>G" "" "VUS" "" "0000906967" "0" "50" "12" "103306564" "103306564" "subst" "0" "00006" "PAH_000385" "g.103306564C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:680}" "" "IVS2+5G>T" "" "Unknown" "" "" "0" "" "" "g.102912786C>A" "" "VUS" "" "0000906968" "0" "50" "12" "103306563" "103306563" "subst" "0" "00006" "PAH_001541" "g.103306563A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:681}" "" "IVS2+6T>G" "" "Unknown" "" "" "0" "" "" "g.102912785A>C" "" "VUS" "" "0000906969" "0" "50" "12" "103306550" "103306550" "subst" "0.201502" "00006" "PAH_000130" "g.103306550A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:682}" "" "IVS2+19T>C" "" "Unknown" "" "" "0" "" "" "g.102912772A>G" "" "VUS" "" "0000906970" "0" "90" "12" "103288709" "103288709" "subst" "4.09279E-6" "00006" "PAH_000530" "g.103288709A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:683}" "" "IVS2-13T>G" "" "Unknown" "" "" "0" "" "" "g.102894931A>C" "" "pathogenic (recessive)" "" "0000906971" "0" "90" "12" "103288698" "103288698" "subst" "8.16347E-6" "00006" "PAH_001532" "g.103288698T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:684}" "" "IVS2-2A>G" "" "Unknown" "" "" "0" "" "" "g.102894920T>C" "" "pathogenic (recessive)" "" "0000906972" "0" "50" "12" "103288696" "103288698" "del" "0" "00006" "PAH_001531" "g.103288696_103288698del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:685}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894918_102894920del" "" "VUS" "" "0000906973" "0" "50" "12" "103288690" "103288690" "subst" "0" "00006" "PAH_001526" "g.103288690C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:687}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894912C>A" "" "VUS" "" "0000906974" "0" "50" "12" "103288689" "103288689" "subst" "0" "00006" "PAH_001524" "g.103288689T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:688}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894911T>C" "" "VUS" "" "0000906975" "0" "50" "12" "103288684" "103288684" "subst" "0" "00006" "PAH_001523" "g.103288684T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:689}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894906T>C" "" "VUS" "" "0000906976" "0" "50" "12" "103288682" "103288682" "subst" "1.62815E-5" "00006" "PAH_000528" "g.103288682G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:690}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894904G>C" "" "VUS" "" "0000906977" "0" "90" "12" "103288682" "103288682" "del" "0" "00006" "PAH_001519" "g.103288682del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:691}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894904del" "" "pathogenic (recessive)" "" "0000906978" "0" "50" "12" "103288680" "103288680" "subst" "0" "00006" "PAH_000383" "g.103288680A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:692}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894902A>G" "" "VUS" "" "0000906979" "0" "90" "12" "103288679" "103288683" "del" "0" "00006" "PAH_001516" "g.103288679_103288683del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:693}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894901_102894905del" "" "pathogenic (recessive)" "" "0000906980" "0" "50" "12" "103288675" "103288678" "delins" "0" "00006" "PAH_001511" "g.103288675_103288678delinsTGGG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:694}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894897_102894900delinsTGGG" "" "VUS" "" "0000906981" "0" "90" "12" "103288678" "103288678" "subst" "0" "00006" "PAH_001514" "g.103288678T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:695}" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102894900T>G" "" "pathogenic (recessive)" "" "0000906982" "0" "90" "12" "103288677" "103288677" "del" "0" "00006" "PAH_001513" "g.103288677del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:696}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894899del" "" "pathogenic (recessive)" "" "0000906983" "0" "50" "12" "103288675" "103288675" "subst" "0" "00006" "PAH_001510" "g.103288675G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:697}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894897G>T" "" "VUS" "" "0000906984" "0" "90" "12" "103288672" "103288672" "subst" "8.1322E-6" "00006" "PAH_001509" "g.103288672T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:698}" "" "" "allelic phenotype value 8.8, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894894T>C" "" "pathogenic (recessive)" "" "0000906985" "0" "50" "12" "103288671" "103288671" "subst" "0" "00006" "PAH_001507" "g.103288671A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:699}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894893A>C" "" "VUS" "" "0000906986" "0" "50" "12" "103288671" "103288671" "subst" "0" "00006" "PAH_000382" "g.103288671A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:700}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894893A>T" "" "VUS" "" "0000906987" "0" "90" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:701}" "" "" "allelic phenotype value 1.4, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102894893A>G" "" "pathogenic (recessive)" "" "0000906988" "0" "90" "12" "103288664" "103288671" "del" "0" "00006" "PAH_001502" "g.103288664_103288671del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:702}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894886_102894893del" "" "pathogenic (recessive)" "" "0000906989" "0" "50" "12" "103288670" "103288670" "subst" "0" "00006" "PAH_001506" "g.103288670A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:703}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894892A>C" "" "VUS" "" "0000906990" "0" "90" "12" "103288661" "103288668" "del" "0" "00006" "PAH_001499" "g.103288661_103288668del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:704}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894883_102894890del" "" "pathogenic (recessive)" "" "0000906991" "0" "90" "12" "103288666" "103288666" "subst" "4.06441E-6" "00006" "PAH_000245" "g.103288666A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:705}" "" "" "allelic phenotype value 2.1, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102894888A>G" "" "pathogenic (recessive)" "" "0000906992" "0" "90" "12" "103288663" "103288663" "subst" "0" "00006" "PAH_001500" "g.103288663T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:706}" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102894885T>C" "" "pathogenic (recessive)" "" "0000906993" "0" "90" "12" "103288661" "103288661" "subst" "5.68916E-5" "00006" "PAH_000128" "g.103288661T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:707}" "" "" "allelic phenotype value 5.4, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102894883T>A" "" "pathogenic (recessive)" "" "0000906994" "0" "50" "12" "103288660" "103288660" "subst" "0" "00006" "PAH_001497" "g.103288660G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:708}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894882G>A" "" "VUS" "" "0000906995" "0" "90" "12" "103288660" "103288660" "dup" "0" "00006" "PAH_001498" "g.103288660dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:709}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894882dup" "" "pathogenic (recessive)" "" "0000906996" "0" "50" "12" "103288657" "103288657" "subst" "0" "00006" "PAH_000526" "g.103288657A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:710}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894879A>G" "" "VUS" "" "0000906997" "0" "50" "12" "103288656" "103288656" "subst" "0" "00006" "PAH_000380" "g.103288656G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:712}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894878G>A" "" "VUS" "" "0000906998" "0" "50" "12" "103288654" "103288654" "subst" "1.21906E-5" "00006" "PAH_001493" "g.103288654G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:713}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894876G>A" "" "VUS" "" "0000906999" "0" "90" "12" "103288653" "103288653" "subst" "0" "00006" "PAH_000177" "g.103288653C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:714}" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894875C>T" "" "pathogenic (recessive)" "" "0000907000" "0" "50" "12" "103288653" "103288653" "subst" "0" "00006" "PAH_001492" "g.103288653C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:715}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894875C>G" "" "VUS" "" "0000907001" "0" "90" "12" "103288639" "103288639" "subst" "0" "00006" "PAH_000558" "g.103288639C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:716}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894861C>A" "" "pathogenic (recessive)" "" "0000907002" "0" "90" "12" "103288638" "103288638" "subst" "0" "00006" "PAH_000261" "g.103288638T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:717}" "" "" "allelic phenotype value 7.1, variant associated with mild PKU-mild HPA" "Unknown" "" "" "0" "" "" "g.102894860T>C" "" "pathogenic (recessive)" "" "0000907003" "0" "50" "12" "103288638" "103288638" "subst" "0" "00006" "PAH_001485" "g.103288638T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:718}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894860T>G" "" "VUS" "" "0000907004" "0" "90" "12" "103288634" "103288634" "subst" "0" "00006" "PAH_001481" "g.103288634A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:719}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894856A>C" "" "pathogenic (recessive)" "" "0000907005" "0" "50" "12" "103288633" "103288633" "subst" "0" "00006" "PAH_001479" "g.103288633C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:720}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894855C>T" "" "VUS" "" "0000907006" "0" "90" "12" "103288632" "103288635" "del" "0" "00006" "PAH_001478" "g.103288632_103288635del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:721}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894854_102894857del" "" "pathogenic (recessive)" "" "0000907007" "0" "50" "12" "103288624" "103288624" "subst" "0" "00006" "PAH_001472" "g.103288624T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:722}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894846T>G" "" "VUS" "" "0000907008" "0" "90" "12" "103288610" "103288625" "del" "0" "00006" "PAH_000378" "g.103288610_103288625del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:723}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894832_102894847del" "" "pathogenic (recessive)" "" "0000907009" "0" "90" "12" "103288615" "103288615" "subst" "8.12334E-6" "00006" "PAH_000525" "g.103288615C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:724}" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102894837C>A" "" "pathogenic (recessive)" "" "0000907010" "0" "90" "12" "103288612" "103288612" "subst" "0" "00006" "PAH_001468" "g.103288612T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:725}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894834T>A" "" "pathogenic (recessive)" "" "0000907011" "0" "90" "12" "103288606" "103288606" "subst" "0" "00006" "PAH_001466" "g.103288606T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:726}" "" "" "allelic phenotype value 10.0, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894828T>G" "" "pathogenic (recessive)" "" "0000907012" "0" "90" "12" "103288604" "103288604" "subst" "7.71693E-5" "00006" "PAH_000166" "g.103288604G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:727}" "" "" "allelic phenotype value 9.6, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894826G>T" "" "pathogenic (recessive)" "" "0000907013" "0" "50" "12" "103288600" "103288600" "subst" "0" "00006" "PAH_001463" "g.103288600G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:728}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894822G>A" "" "VUS" "" "0000907014" "0" "90" "12" "103288600" "103288600" "dup" "0" "00006" "PAH_000460" "g.103288600dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:729}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894822dup" "" "pathogenic (recessive)" "" "0000907015" "0" "90" "12" "103288590" "103288590" "subst" "4.06171E-6" "00006" "PAH_001460" "g.103288590G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:730}" "" "" "allelic phenotype value 8.3, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894812G>A" "" "pathogenic (recessive)" "" "0000907016" "0" "50" "12" "103288584" "103288584" "subst" "0" "00006" "PAH_000557" "g.103288584A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:731}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894806A>C" "" "VUS" "" "0000907017" "0" "90" "12" "103288582" "103288582" "subst" "2.0308E-5" "00006" "PAH_001454" "g.103288582T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:732}" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102894804T>A" "" "pathogenic (recessive)" "" "0000907018" "0" "90" "12" "103288584" "103288586" "del" "0" "00006" "PAH_000181" "g.103288584_103288586del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:733}" "" "c.284_286delTCA" "allelic phenotype value 2.2, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102894806_102894808del" "" "pathogenic (recessive)" "" "0000907019" "0" "50" "12" "103288576" "103288576" "subst" "0.000146214" "00006" "PAH_000165" "g.103288576T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:734}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894798T>G" "" "VUS" "" "0000907020" "0" "50" "12" "103288572" "103288572" "subst" "2.03075E-5" "00006" "PAH_000126" "g.103288572A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:735}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894794A>G" "" "VUS" "" "0000907021" "0" "50" "12" "103288566" "103288566" "subst" "0.000324907" "00006" "PAH_000164" "g.103288566T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:736}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894788T>C" "" "VUS" "" "0000907022" "0" "50" "12" "103288560" "103288560" "subst" "0" "00006" "PAH_000524" "g.103288560A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:737}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894782A>G" "" "VUS" "" "0000907023" "0" "50" "12" "103288558" "103288558" "subst" "0" "00006" "PAH_001444" "g.103288558C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:738}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894780C>T" "" "VUS" "" "0000907024" "0" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "00006" "PAH_000123" "g.103288554G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:739}" "" "" "allelic phenotype value 2.7, variant associated with classic-mild PKU" "Unknown" "" "" "0" "" "" "g.102894776G>T" "" "pathogenic (recessive)" "" "0000907025" "0" "50" "12" "103288548" "103288548" "subst" "0" "00006" "PAH_001440" "g.103288548A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:740}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894770A>G" "" "VUS" "" "0000907026" "0" "90" "12" "103288545" "103288545" "subst" "1.62456E-5" "00006" "PAH_000376" "g.103288545T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:741}" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894767T>C" "" "pathogenic (recessive)" "" "0000907027" "0" "50" "12" "103288536" "103288536" "subst" "0" "00006" "PAH_000523" "g.103288536G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:742}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894758G>A" "" "VUS" "" "0000907028" "0" "90" "12" "103260420" "103260420" "subst" "2.03164E-5" "00006" "PAH_000512" "g.103260420G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:744} with 3D model" "" "" "allelic phenotype value 10.0, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102866642G>A" "" "pathogenic (recessive)" "" "0000907029" "0" "90" "12" "103288669" "103288669" "subst" "0" "00006" "PAH_000527" "g.103288669C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:745}" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894891C>T" "" "pathogenic (recessive)" "" "0000907030" "0" "50" "12" "103288637" "103288637" "subst" "0" "00006" "PAH_001484" "g.103288637C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:746}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894859C>G" "" "VUS" "" "0000907031" "0" "50" "12" "103238142" "103238142" "subst" "0" "00006" "PAH_000838" "g.103238142C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:747} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844364C>T" "" "VUS" "" "0000907032" "0" "50" "12" "103238181" "103238181" "subst" "0" "00006" "PAH_000873" "g.103238181A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:748} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844403A>G" "" "VUS" "" "0000907033" "0" "90" "12" "103240731" "103240731" "subst" "0" "00006" "PAH_000310" "g.103240731T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:749}" "" "IVS8-2A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846953T>C" "" "pathogenic (recessive)" "" "0000907034" "0" "50" "12" "103310845" "103310845" "subst" "0" "00006" "PAH_001619" "g.103310845T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:750}" "" "IVS1+4A>T" "" "Unknown" "" "" "0" "" "" "g.102917067T>A" "" "VUS" "" "0000907035" "0" "50" "12" "103288558" "103288558" "subst" "0" "00006" "PAH_001445" "g.103288558C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:751}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894780C>A" "" "VUS" "" "0000907036" "0" "50" "12" "103260384" "103260384" "subst" "0" "00006" "PAH_001307" "g.103260384T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:752} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866606T>A" "" "VUS" "" "0000907037" "0" "50" "12" "103249021" "103249021" "subst" "0" "00006" "PAH_001223" "g.103249021G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:753} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855243G>T" "" "VUS" "" "0000907038" "0" "50" "12" "103248934" "103248934" "subst" "0" "00006" "PAH_001161" "g.103248934T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:754} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855156T>C" "" "VUS" "" "0000907039" "0" "50" "12" "103246647" "103246647" "subst" "0" "00006" "PAH_001076" "g.103246647A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:755} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852869A>G" "" "VUS" "" "0000907040" "0" "90" "12" "103237549" "103237549" "subst" "8.13312E-6" "00006" "PAH_000781" "g.103237549T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:756} with 3D model" "" "" "allelic phenotype value 5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102843771T>A" "" "pathogenic (recessive)" "" "0000907041" "0" "90" "12" "103234275" "103234275" "subst" "8.12334E-6" "00006" "PAH_000474" "g.103234275T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:757} with 3D model" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102840497T>C" "" "pathogenic (recessive)" "" "0000907042" "0" "90" "12" "103245467" "103245467" "subst" "0" "00006" "PAH_000315" "g.103245467G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:758} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851689G>A" "" "pathogenic (recessive)" "" "0000907043" "0" "90" "12" "103288537" "103288541" "del" "0" "00006" "PAH_001436" "g.103288537_103288541del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:759}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894759_102894763del" "" "pathogenic (recessive)" "" "0000907044" "0" "90" "12" "103249014" "103249014" "dup" "0" "00006" "PAH_001219" "g.103249014dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:760}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855236dup" "" "pathogenic (recessive)" "" "0000907045" "0" "90" "12" "103246696" "103246696" "del" "0" "00006" "PAH_001108" "g.103246696del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:762}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852918del" "" "pathogenic (recessive)" "" "0000907046" "0" "50" "12" "103288696" "103288696" "subst" "1.22411E-5" "00006" "PAH_001530" "g.103288696C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:763}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894918C>T" "" "VUS" "" "0000907047" "0" "90" "12" "103260385" "103260385" "subst" "0" "00006" "PAH_000259" "g.103260385G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:764}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866607G>C" "" "pathogenic (recessive)" "" "0000907048" "0" "90" "12" "103259201" "103263354" "delins" "0" "00006" "PAH_000399" "g.103259201_103263354delins[CA;103254571_103254837]" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:765}" "" "ex5del4232ins268, 442-2914_509+1173del4155ins268" "" "Unknown" "" "" "0" "" "" "g.102865423_102869576delins[CA;102860793_102861059]" "" "pathogenic (recessive)" "" "0000907049" "0" "90" "12" "103260118" "103261905" "del" "0" "00006" "PAH_000264" "g.103260118_103261905del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:767}" "" "del ex5, 442-1556del1881, AF404777.1:g.76772_78653del1881" "" "Unknown" "" "" "0" "" "" "g.102866340_102868127del" "" "pathogenic (recessive)" "" "0000907050" "0" "50" "12" "103271317" "103271317" "subst" "4.0626E-6" "00006" "PAH_000518" "g.103271317G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:769} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877539G>A" "" "VUS" "" "0000907051" "0" "50" "12" "103237542" "103237542" "subst" "0" "00006" "PAH_000777" "g.103237542T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:770} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843764T>G" "" "VUS" "" "0000907052" "0" "90" "12" "103240737" "103240737" "subst" "0" "00006" "PAH_000420" "g.103240737T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:771}" "" "IVS8-8A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846959T>C" "" "pathogenic (recessive)" "" "0000907053" "0" "90" "12" "103245462" "103245462" "subst" "0" "00006" "PAH_000961" "g.103245462T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:772}" "" "IVS8+3A>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851684T>G" "" "pathogenic (recessive)" "" "0000907054" "0" "90" "12" "103238210" "103238210" "subst" "0" "00006" "PAH_000890" "g.103238210C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:773}" "" "IVS9-1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844432C>T" "" "pathogenic (recessive)" "" "0000907055" "0" "50" "12" "103240732" "103240732" "subst" "0" "00006" "PAH_000954" "g.103240732G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:774}" "" "IVS8-3C>G" "" "Unknown" "" "" "0" "" "" "g.102846954G>C" "" "VUS" "" "0000907056" "0" "50" "12" "103237443" "103237443" "subst" "0" "00006" "PAH_000408" "g.103237443C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:775} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843665C>A" "" "VUS" "" "0000907057" "0" "90" "12" "103245490" "103245490" "subst" "0" "00006" "PAH_000423" "g.103245490T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:776} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851712T>C" "" "pathogenic (recessive)" "" "0000907058" "0" "50" "12" "103249072" "103249073" "delins" "0" "00006" "PAH_000447" "g.103249072_103249073delinsAA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:777} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855294_102855295delinsAA" "" "VUS" "" "0000907059" "0" "50" "12" "103248938" "103248938" "subst" "4.06362E-6" "00006" "PAH_000437" "g.103248938C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:778} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855160C>T" "" "VUS" "" "0000907060" "0" "90" "12" "103310848" "103311381" "del" "0" "00006" "PAH_000465" "g.(103306677_103310848)_(103311381_?)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:779}" "" "del ex1, c.1-?_60+?del" "" "Unknown" "" "" "0" "" "" "g.(102912899_102917070)_(102917603_?)del" "" "pathogenic (recessive)" "" "0000907061" "0" "90" "12" "103248913" "103249111" "dup" "0" "00006" "PAH_000436" "g.(103246729_103248913)_(103249111_103260373)dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:780}" "" "c.510_706dup" "" "Unknown" "" "" "0" "" "" "g.(102852951_102855135)_(102855333_102866595)dup" "" "pathogenic (recessive)" "" "0000907062" "0" "90" "12" "103232104" "103238210" "del" "0" "00006" "PAH_000403" "g.(?_103232104)_(103238210_103240672)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:781}" "" "del ex10-13, c.970-?_1359+?" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.(?_102838326)_(102844432_102846894)del" "" "pathogenic (recessive)" "" "0000907063" "0" "90" "12" "103245508" "103245508" "subst" "0" "00006" "PAH_000424" "g.103245508T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:782} with 3D model" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851730T>A" "" "pathogenic (recessive)" "" "0000907064" "0" "50" "12" "103238175" "103238175" "subst" "0" "00006" "PAH_000865" "g.103238175T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:783} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102844397T>G" "" "VUS" "" "0000907065" "0" "90" "12" "103240714" "103240715" "del" "0" "00006" "PAH_000417" "g.103240714_103240715del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:784}" "" "c.931_932delCT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846936_102846937del" "" "pathogenic (recessive)" "" "0000907066" "0" "90" "12" "103306583" "103306583" "del" "0" "00006" "PAH_000215" "g.103306583del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:785}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912805del" "" "pathogenic (recessive)" "" "0000907067" "0" "50" "12" "103260378" "103260378" "subst" "1.21887E-5" "00006" "PAH_000357" "g.103260378G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:786} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866600G>A" "" "VUS" "" "0000907068" "0" "50" "12" "103288515" "103288515" "subst" "2.03092E-5" "00006" "PAH_001428" "g.103288515G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:787}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894737G>A" "" "VUS" "" "0000907069" "0" "50" "12" "103246650" "103246650" "subst" "0" "00006" "PAH_000431" "g.103246650A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:788} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852872A>C" "" "VUS" "" "0000907070" "0" "50" "12" "103237460" "103237460" "subst" "0" "00006" "PAH_000410" "g.103237460A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:789} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843682A>G" "" "VUS" "" "0000907071" "0" "50" "12" "103246623" "103246623" "subst" "0" "00006" "PAH_001044" "g.103246623T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:790} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852845T>A" "" "VUS" "" "0000907072" "0" "50" "12" "103306573" "103306573" "subst" "0" "00006" "PAH_000463" "g.103306573A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:791}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912795A>G" "" "VUS" "" "0000907073" "0" "50" "12" "103288696" "103288696" "subst" "0" "00006" "PAH_000462" "g.103288696C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:792}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894918C>A" "" "VUS" "" "0000907074" "0" "50" "12" "103288580" "103288581" "delins" "0" "00006" "PAH_001452" "g.103288580_103288581delinsTG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:793}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894802_102894803delinsTG" "" "VUS" "" "0000907075" "0" "50" "12" "103234253" "103234253" "subst" "4.06134E-6" "00006" "PAH_000637" "g.103234253A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:794} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840475A>G" "" "VUS" "" "0000907076" "0" "90" "12" "103288682" "103288682" "subst" "0" "00006" "PAH_001520" "g.103288682G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:795}" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102894904G>T" "" "pathogenic (recessive)" "" "0000907077" "0" "90" "12" "103260379" "103260379" "subst" "0" "00006" "PAH_000451" "g.103260379G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:796} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102866601G>T" "" "pathogenic (recessive)" "" "0000907078" "0" "50" "12" "103249052" "103249052" "subst" "0" "00006" "PAH_001241" "g.103249052C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:797} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855274C>T" "" "VUS" "" "0000907079" "0" "90" "12" "103248988" "103248988" "subst" "0" "00006" "PAH_001198" "g.103248988G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:798} with 3D model" "" "" "allelic phenotype value 1.7, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102855210G>A" "" "pathogenic (recessive)" "" "0000907080" "0" "50" "12" "103246654" "103246654" "subst" "4.06349E-6" "00006" "PAH_000432" "g.103246654G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:799} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852876G>C" "" "VUS" "" "0000907081" "0" "50" "12" "103245481" "103245481" "subst" "0" "00006" "PAH_000976" "g.103245481A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:800} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102851703A>G" "" "VUS" "" "0000907082" "0" "90" "12" "103240672" "103240730" "dup" "0" "00006" "PAH_000909" "g.(103238210_103240672)_(103240730_103245464)dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:801}" "" "c.914_969+1dup, c.913_969dup57" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.(102844432_102846894)_(102846952_102851686)dup" "" "pathogenic (recessive)" "" "0000907083" "0" "50" "12" "103288689" "103288689" "subst" "0" "00006" "PAH_001525" "g.103288689T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:802}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894911T>A" "" "VUS" "" "0000907084" "0" "50" "12" "103248923" "103248923" "subst" "0" "00006" "PAH_001153" "g.103248923A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:803} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855145A>T" "" "VUS" "" "0000907085" "0" "50" "12" "103246626" "103246626" "subst" "0" "00006" "PAH_001047" "g.103246626C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:804} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852848C>A" "" "VUS" "" "0000907086" "0" "90" "12" "103238187" "103238187" "subst" "4.06832E-6" "00006" "PAH_000300" "g.103238187A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:805} with 3D model" "" "" "allelic phenotype value 5.5, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102844409A>G" "" "pathogenic (recessive)" "" "0000907087" "0" "50" "12" "103249033" "103249033" "subst" "4.06369E-6" "00006" "PAH_001231" "g.103249033G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:806} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855255G>T" "" "VUS" "" "0000907088" "0" "50" "12" "103271319" "103271319" "subst" "0" "00006" "PAH_001392" "g.103271319A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:807} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102877541A>G" "" "VUS" "" "0000907089" "0" "50" "12" "103249109" "103249109" "subst" "0" "00006" "PAH_001280" "g.103249109C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:808} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102855331C>A" "" "VUS" "" "0000907090" "0" "50" "12" "103237469" "103237469" "subst" "0" "00006" "PAH_000719" "g.103237469A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:809} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843691A>G" "" "VUS" "" "0000907091" "0" "90" "12" "103288671" "103288675" "del" "0" "00006" "PAH_001508" "g.103288671_103288675del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:810}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894893_102894897del" "" "pathogenic (recessive)" "" "0000907092" "0" "90" "12" "103237449" "103237449" "subst" "5.6893E-5" "00006" "PAH_000225" "g.103237449A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:811} with 3D model" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102843671A>T" "" "pathogenic (recessive)" "" "0000907093" "0" "50" "12" "103234293" "103234293" "subst" "0" "00006" "PAH_000663" "g.103234293C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:812} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102840515C>A" "" "VUS" "" "0000907094" "0" "50" "12" "103246642" "103246642" "subst" "0" "00006" "PAH_001070" "g.103246642A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:813} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102852864A>G" "" "VUS" "" "0000907095" "0" "50" "12" "103288681" "103288681" "subst" "0" "00006" "PAH_001518" "g.103288681G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:814}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894903G>C" "" "VUS" "" "0000907096" "0" "50" "12" "103238136" "103238136" "subst" "0" "00006" "PAH_000834" "g.103238136A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:815}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844358A>G" "" "VUS" "" "0000907097" "0" "50" "12" "103237500" "103237500" "subst" "3.25132E-5" "00006" "PAH_000287" "g.103237500G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:816} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843722G>C" "" "VUS" "" "0000907098" "0" "50" "12" "103240677" "103240677" "subst" "0" "00006" "PAH_000258" "g.103240677G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:817} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846899G>T" "" "VUS" "" "0000907099" "0" "90" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:818}" "" "Ex6-96A>G" "" "Unknown" "" "" "0" "" "" "g.102855231T>C" "" "pathogenic (recessive)" "" "0000907100" "0" "50" "12" "103237452" "103237452" "subst" "0" "00006" "PAH_000409" "g.103237452T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:819} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843674T>C" "" "VUS" "" "0000907101" "0" "50" "12" "103234181" "103234181" "subst" "0" "00006" "PAH_000602" "g.103234181T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:820}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840403T>C" "" "VUS" "" "0000907102" "0" "90" "12" "103271239" "103271239" "subst" "4.06085E-6" "00006" "PAH_000515" "g.103271239C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:821}" "" "IVS4+1G>C" "" "Unknown" "" "" "0" "" "" "g.102877461C>G" "" "pathogenic (recessive)" "" "0000907103" "0" "50" "12" "103310989" "103310989" "subst" "0" "00006" "PAH_000172" "g.103310989G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:822}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917211G>A" "" "VUS" "" "0000907104" "0" "50" "12" "103310787" "103310787" "subst" "0" "00006" "PAH_000167" "g.103310787G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:823}" "" "IVS1+62C>T" "" "Unknown" "" "" "0" "" "" "g.102917009G>A" "" "VUS" "" "0000907105" "0" "50" "12" "103271350" "103271350" "subst" "0.272972" "00006" "PAH_000163" "g.103271350G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:824}" "" "IVS3-22C>T" "" "Unknown" "" "" "0" "" "" "g.102877572G>A" "" "VUS" "" "0000907106" "0" "50" "12" "103260273" "103260273" "subst" "0" "00006" "PAH_000509" "g.103260273T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:826}" "" "IVS5+101A>C" "" "Unknown" "" "" "0" "" "" "g.102866495T>G" "" "VUS" "" "0000907107" "0" "50" "12" "103249164" "103249164" "subst" "0" "00006" "PAH_000508" "g.103249164C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:827}" "" "IVS5-54G>A" "" "Unknown" "" "" "0" "" "" "g.102855386C>T" "" "VUS" "" "0000907108" "0" "50" "12" "103237374" "103237374" "subst" "1.22341E-5" "00006" "PAH_000681" "g.103237374C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:828}" "" "IVS11+50G>A" "" "Unknown" "" "" "0" "" "" "g.102843596C>T" "" "VUS" "" "0000907109" "0" "50" "12" "103240708" "103240708" "subst" "0" "00006" "PAH_000937" "g.103240708C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:829} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102846930C>G" "" "VUS" "" "0000907110" "0" "50" "12" "103237520" "103237520" "subst" "0" "00006" "PAH_000037" "g.103237520T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:830} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843742T>C" "" "VUS" "" "0000907111" "0" "50" "12" "103306627" "103306627" "subst" "0" "00006" "PAH_001586" "g.103306627A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:831}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912849A>G" "" "VUS" "" "0000907112" "0" "50" "12" "103237451" "103237451" "subst" "0" "00006" "PAH_000284" "g.103237451C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:832} with 3D model" "" "" "" "Unknown" "" "" "0" "" "" "g.102843673C>G" "" "VUS" "" "0000907113" "0" "50" "12" "103306601" "103306601" "subst" "0" "00006" "PAH_001571" "g.103306601C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:833}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912823C>G" "" "VUS" "" "0000907114" "0" "90" "12" "103232104" "103234294" "del" "0" "00006" "PAH_000564" "g.(?_103232104)_(103234294_103237423)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:834}" "" "del ex12-13 c.1200-?_1359+?del" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.(?_102838326)_(102840516_102843645)del" "" "pathogenic (recessive)" "" "0000907115" "0" "50" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000605" "g.103234192G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:835}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840414G>A" "" "VUS" "" "0000907116" "0" "90" "12" "103234222" "103234222" "subst" "0" "00006" "PAH_000615" "g.103234222A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:836}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840444A>T" "" "pathogenic (recessive)" "" "0000907117" "0" "50" "12" "103234258" "103234258" "subst" "0" "00006" "PAH_000641" "g.103234258A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:837}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840480A>C" "" "VUS" "" "0000907118" "0" "50" "12" "103240674" "103240674" "subst" "0" "00006" "PAH_000911" "g.103240674G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:838}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846896G>A" "" "VUS" "" "0000907119" "0" "90" "12" "103240722" "103240722" "subst" "0" "00006" "PAH_000949" "g.103240722C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:839}" "" "" "allelic phenotype value 3.3, variant associated with mild PKU" "Unknown" "" "" "0" "" "" "g.102846944C>T" "" "pathogenic (recessive)" "" "0000907120" "0" "90" "12" "103288588" "103288591" "del" "0" "00006" "PAH_001459" "g.103288588_103288591del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:840}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894810_102894813del" "" "pathogenic (recessive)" "" "0000907121" "0" "90" "12" "103306568" "103306568" "subst" "0" "00006" "PAH_000386" "g.103306568C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:841}" "" "IVS2+1G>T" "" "Unknown" "" "" "0" "" "" "g.102912790C>A" "" "pathogenic (recessive)" "" "0000907122" "0" "50" "12" "103260422" "103260422" "subst" "0" "00006" "PAH_001328" "g.103260422T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:842}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866644T>A" "" "VUS" "" "0000907123" "0" "90" "12" "103249111" "103249111" "subst" "0" "00006" "PAH_000507" "g.103249111C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:843}" "" "IVS5-1G>A" "" "Unknown" "" "" "0" "" "" "g.102855333C>T" "" "pathogenic (recessive)" "" "0000907124" "0" "50" "12" "103249051" "103249051" "subst" "0" "00006" "PAH_000348" "g.103249051A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:844}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855273A>C" "" "VUS" "" "0000907125" "0" "50" "12" "103246635" "103246635" "subst" "0" "00006" "PAH_000330" "g.103246635T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:845}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852857T>C" "" "VUS" "" "0000907126" "0" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:140}, {BIOPKU:847}" "" "591_613del, 593_614del" "" "Unknown" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic (recessive)" "" "0000907127" "0" "90" "12" "103311316" "103315082" "del" "0" "00006" "PAH_000398" "g.103311316_103315082del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:848}" "" "-4172_-406del (-4317_-407)" "" "Unknown" "" "" "0" "" "" "g.102917538_102921304del" "" "pathogenic (recessive)" "" "0000907128" "0" "90" "12" "103238177" "103238177" "subst" "0" "00006" "PAH_000867" "g.103238177G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:851}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844399G>T" "" "pathogenic (recessive)" "" "0000907129" "0" "50" "12" "103306653" "103306653" "subst" "0" "00006" "PAH_001591" "g.103306653G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:852}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912875G>A" "" "VUS" "" "0000907130" "0" "90" "12" "103248951" "103248951" "del" "0" "00006" "PAH_001177" "g.103248951del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:853}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855173del" "" "pathogenic (recessive)" "" "0000907131" "0" "50" "12" "103245502" "103245502" "subst" "4.06898E-6" "00006" "PAH_000986" "g.103245502G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:854}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851724G>A" "" "VUS" "" "0000907132" "0" "50" "12" "103237570" "103237570" "subst" "0" "00006" "PAH_000803" "g.103237570A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:855}" "" "IVS10-13T>G" "" "Unknown" "" "" "0" "" "" "g.102843792A>C" "" "VUS" "" "0000907133" "0" "50" "12" "103240667" "103240667" "subst" "0" "00006" "PAH_000203" "g.103240667A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:856}" "" "IVS9+6T>C" "" "Unknown" "" "" "0" "" "" "g.102846889A>G" "" "VUS" "" "0000907134" "0" "50" "12" "103248921" "103248921" "subst" "0" "00006" "PAH_001152" "g.103248921G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:857}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855143G>C" "" "VUS" "" "0000907135" "0" "90" "12" "103234177" "103234294" "del" "0" "00006" "PAH_000600" "g.(103232997_103234177)_(103234294_103237423)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:858}" "" "del ex11 c.1200-?_1315+?del" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.(102839219_102840399)_(102840516_102843645)del" "" "pathogenic (recessive)" "" "0000907136" "0" "90" "12" "103240710" "103240715" "del" "0" "00006" "PAH_000942" "g.103240710_103240715del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:859}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846932_102846937del" "" "pathogenic (recessive)" "" "0000907137" "0" "90" "12" "103237485" "103237486" "del" "0" "00006" "PAH_000730" "g.103237485_103237486del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:860}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843707_102843708del" "" "pathogenic (recessive)" "" "0000907138" "0" "90" "12" "103246690" "103246690" "del" "0" "00006" "PAH_001104" "g.103246690del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:861}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852912del" "" "pathogenic (recessive)" "" "0000907139" "0" "90" "12" "103306663" "103306663" "del" "0" "00006" "PAH_001594" "g.103306663del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:862}, {BIOPKU:1632}" "" "c.74del" "" "Unknown" "" "" "0" "" "" "g.102912885del" "" "pathogenic (recessive)" "" "0000907140" "0" "50" "12" "103288641" "103288641" "subst" "0" "00006" "PAH_001487" "g.103288641T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:863}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894863T>C" "" "VUS" "" "0000907141" "0" "50" "12" "103306613" "103306613" "subst" "0" "00006" "PAH_001581" "g.103306613T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:864}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912835T>C" "" "VUS" "" "0000907142" "0" "50" "12" "103288623" "103288623" "subst" "0" "00006" "PAH_000379" "g.103288623G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:865}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894845G>T" "" "VUS" "" "0000907143" "0" "50" "12" "103271248" "103271248" "subst" "0" "00006" "PAH_000516" "g.103271248C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:866}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877470C>T" "" "VUS" "" "0000907144" "0" "50" "12" "103249008" "103249008" "subst" "0.000341333" "00006" "PAH_001211" "g.103249008A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:867}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855230A>G" "" "VUS" "" "0000907145" "0" "90" "12" "103248917" "103248917" "subst" "4.06445E-6" "00006" "PAH_001148" "g.103248917G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:868}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855139G>A" "" "pathogenic (recessive)" "" "0000907146" "0" "50" "12" "103237505" "103237505" "subst" "0" "00006" "PAH_000288" "g.103237505G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:870}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843727G>T" "" "VUS" "" "0000907147" "0" "50" "12" "103234234" "103234234" "subst" "8.12282E-6" "00006" "PAH_000620" "g.103234234C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:871}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840456C>A" "" "VUS" "" "0000907148" "0" "90" "12" "103288598" "103288599" "ins" "0" "00006" "PAH_001462" "g.103288598_103288599insC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:872}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894820_102894821insC" "" "pathogenic (recessive)" "" "0000907149" "0" "90" "12" "103260422" "103260429" "dup" "0" "00006" "PAH_000364" "g.103260422_103260429dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:873}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866644_102866651dup" "" "pathogenic (recessive)" "" "0000907150" "0" "90" "12" "103260373" "103260442" "del" "0" "00006" "PAH_000450" "g.(103249111_103260373)_(103260442_103271239)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:874}, {BIOPKU:1309}" "" "del ex5 442-?_509 + ?del, 443_509+1del" "" "Unknown" "" "" "0" "" "" "g.(102855333_102866595)_(102866664_102877461)del" "" "pathogenic (recessive)" "" "0000907151" "0" "90" "12" "103284594" "103285596" "del" "0" "00006" "PAH_001417" "g.103284594_103285596del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:875}" "" "del ex3, c.169_4951delins8 g.21560_26324del4765" "" "Unknown" "" "" "0" "" "" "g.102890816_102891818del" "" "pathogenic (recessive)" "" "0000907152" "0" "90" "12" "103245464" "103249111" "del" "0" "00006" "PAH_000964" "g.(103240730_103245464)_(103249111_103260373)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:876}" "" "del ex6-8" "" "Unknown" "" "" "0" "" "" "g.(102846952_102851686)_(102855333_102866595)del" "" "pathogenic (recessive)" "" "0000907153" "0" "90" "12" "103288676" "103288677" "dup" "0" "00006" "PAH_001512" "g.103288676_103288677dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:877}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894898_102894899dup" "" "pathogenic (recessive)" "" "0000907154" "0" "50" "12" "103310850" "103310850" "subst" "0" "00006" "PAH_001621" "g.103310850T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:878}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917072T>G" "" "VUS" "" "0000907155" "0" "90" "12" "103248929" "103248930" "ins" "0" "00006" "PAH_001157" "g.103248929_103248930insC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:879}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855151_102855152insC" "" "pathogenic (recessive)" "" "0000907156" "0" "90" "12" "103237503" "103237504" "ins" "0" "00006" "PAH_000741" "g.103237503_103237504insA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:880}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843725_102843726insA" "" "pathogenic (recessive)" "" "0000907157" "0" "50" "12" "103246589" "103246589" "subst" "0" "00006" "PAH_000322" "g.103246589T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:881}" "" "IVS7+4A>T" "" "Unknown" "" "" "0" "" "" "g.102852811T>A" "" "VUS" "" "0000907158" "0" "90" "12" "103311534" "103311534" "subst" "0" "00006" "PAH_000400" "g.103311534G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:882}" "" "-626G>A" "" "Unknown" "" "" "0" "" "" "g.102917756G>A" "" "pathogenic (recessive)" "" "0000907159" "0" "50" "12" "103311386" "103311388" "del" "0" "00006" "PAH_000400" "g.103311386_103311388del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:883}" "" "-480_-478del" "" "Unknown" "" "" "0" "" "" "g.102917608_102917610del" "" "VUS" "" "0000907160" "0" "90" "12" "103249037" "103249037" "dup" "0" "00006" "PAH_000444" "g.103249037dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:884}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855259dup" "" "pathogenic (recessive)" "" "0000907161" "0" "90" "12" "103245464" "103245464" "subst" "0" "00006" "PAH_000421" "g.103245464C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:885}" "" "IVS8+1G>C" "" "Unknown" "" "" "0" "" "" "g.102851686C>G" "" "pathogenic (recessive)" "" "0000907162" "0" "50" "12" "103238152" "103238152" "subst" "0" "00006" "PAH_000847" "g.103238152A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:889}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844374A>T" "" "VUS" "" "0000907163" "0" "50" "12" "103237547" "103237547" "subst" "0" "00006" "PAH_000412" "g.103237547G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:890}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843769G>A" "" "VUS" "" "0000907164" "0" "50" "12" "103260440" "103260440" "subst" "0" "00006" "PAH_001340" "g.103260440C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:891}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866662C>A" "" "VUS" "" "0000907165" "0" "50" "12" "103248926" "103248926" "subst" "0" "00006" "PAH_001155" "g.103248926G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:892}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855148G>C" "" "VUS" "" "0000907166" "0" "50" "12" "103237473" "103237473" "subst" "0" "00006" "PAH_000721" "g.103237473G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:893}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843695G>A" "" "VUS" "" "0000907167" "0" "50" "12" "103245507" "103245507" "subst" "0" "00006" "PAH_000990" "g.103245507A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:894}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851729A>C" "" "VUS" "" "0000907168" "0" "90" "12" "103310879" "103310879" "dup" "0" "00006" "PAH_001633" "g.103310879dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:896}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917101dup" "" "pathogenic (recessive)" "" "0000907169" "0" "50" "12" "103288641" "103288641" "subst" "0" "00006" "PAH_001488" "g.103288641T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:897}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894863T>A" "" "VUS" "" "0000907170" "0" "50" "12" "103288573" "103288573" "subst" "0" "00006" "PAH_001449" "g.103288573A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:898}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894795A>C" "" "VUS" "" "0000907171" "0" "90" "12" "103271330" "103271330" "subst" "0" "00006" "PAH_001403" "g.103271330T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:899}" "" "IVS3-2A>T" "" "Unknown" "" "" "0" "" "" "g.102877552T>A" "" "pathogenic (recessive)" "" "0000907172" "0" "90" "12" "103260405" "103260405" "subst" "0" "00006" "PAH_001315" "g.103260405G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:900}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866627G>A" "" "pathogenic (recessive)" "" "0000907173" "0" "50" "12" "103249104" "103249104" "subst" "3.66119E-5" "00006" "PAH_000351" "g.103249104C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:901}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855326C>A" "" "VUS" "" "0000907174" "0" "50" "12" "103249097" "103249097" "subst" "0" "00006" "PAH_001271" "g.103249097G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:902}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855319G>A" "" "VUS" "" "0000907175" "0" "50" "12" "103248961" "103248961" "subst" "0" "00006" "PAH_001186" "g.103248961T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:903}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855183T>G" "" "VUS" "" "0000907176" "0" "90" "12" "103246640" "103246640" "subst" "4.06286E-6" "00006" "PAH_001066" "g.103246640G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:904}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852862G>T" "" "pathogenic (recessive)" "" "0000907177" "0" "90" "12" "103232998" "103232998" "subst" "0" "00006" "PAH_000588" "g.103232998T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:907}" "" "IVS12-2A>C" "" "Unknown" "" "" "0" "" "" "g.102839220T>G" "" "pathogenic (recessive)" "" "0000907178" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:909}" "" "c.206_208delCTT" "allelic phenotype value 2, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic (recessive)" "" "0000907179" "0" "90" "12" "103234276" "103234280" "del" "0" "00006" "PAH_000656" "g.103234276_103234280del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:910}" "" "c.1215_1219delAATAC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840498_102840502del" "" "pathogenic (recessive)" "" "0000907180" "0" "50" "12" "103248944" "103248944" "subst" "0" "00006" "PAH_000344" "g.103248944G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:913}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855166G>T" "" "VUS" "" "0000907181" "0" "50" "12" "103246632" "103246632" "subst" "0" "00006" "PAH_000329" "g.103246632T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:914}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852854T>C" "" "VUS" "" "0000907182" "0" "90" "12" "103248408" "103256238" "del" "0" "00006" "PAH_000338" "g.103248408_103256238del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:916}" "" "del ex6, c.509+4140_706+510del7831" "" "Unknown" "" "" "0" "" "" "g.102854630_102862460del" "" "pathogenic (recessive)" "" "0000907183" "0" "90" "12" "103234294" "103234294" "subst" "0" "00006" "PAH_000279" "g.103234294C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:919}" "" "IVS11-1G>C" "" "Unknown" "" "" "0" "" "" "g.102840516C>G" "" "pathogenic (recessive)" "" "0000907184" "0" "50" "12" "103237508" "103237508" "subst" "0" "00006" "PAH_000743" "g.103237508G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:920}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843730G>C" "" "VUS" "" "0000907185" "0" "90" "12" "103306610" "103306610" "subst" "0" "00006" "PAH_001575" "g.103306610C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:921}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912832C>A" "" "pathogenic (recessive)" "" "0000907186" "0" "50" "12" "103288557" "103288557" "subst" "0" "00006" "PAH_001443" "g.103288557C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:923}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894779C>T" "" "VUS" "" "0000907187" "0" "50" "12" "103260378" "103260378" "subst" "0" "00006" "PAH_000114" "g.103260378G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:924}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866600G>C" "" "VUS" "" "0000907188" "0" "50" "12" "103238176" "103238176" "subst" "0" "00006" "PAH_000866" "g.103238176T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:925}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844398T>C" "" "VUS" "" "0000907189" "0" "90" "12" "103238150" "103238150" "subst" "0" "00006" "PAH_000843" "g.103238150A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:926}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844372A>T" "" "pathogenic (recessive)" "" "0000907190" "0" "50" "12" "103237570" "103237570" "del" "0" "00006" "PAH_000248" "g.103237570del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:927}" "" "IVS10-12del" "" "Unknown" "" "" "0" "" "" "g.102843792del" "" "VUS" "" "0000907191" "0" "90" "12" "103237558" "103237558" "subst" "0" "00006" "PAH_000794" "g.103237558C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:928}" "" "IVS10-1G>C" "" "Unknown" "" "" "0" "" "" "g.102843780C>G" "" "pathogenic (recessive)" "" "0000907192" "0" "90" "12" "103237558" "103237558" "subst" "0" "00006" "PAH_000795" "g.103237558C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:929}" "" "IVS10-1G>T" "" "Unknown" "" "" "0" "" "" "g.102843780C>A" "" "pathogenic (recessive)" "" "0000907193" "0" "50" "12" "103237557" "103237557" "subst" "0" "00006" "PAH_000792" "g.103237557A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:930}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843779A>C" "" "VUS" "" "0000907194" "0" "50" "12" "103234277" "103234277" "subst" "8.12315E-6" "00006" "PAH_000278" "g.103234277T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:931}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840499T>C" "" "VUS" "" "0000907195" "0" "50" "12" "103234208" "103234208" "subst" "8.12288E-6" "00006" "PAH_000273" "g.103234208G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:932}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840430G>T" "" "VUS" "" "0000907196" "0" "90" "12" "103310897" "103310897" "del" "0" "00006" "PAH_001638" "g.103310897del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:933}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917119del" "" "pathogenic (recessive)" "" "0000907197" "0" "90" "12" "103288695" "103288696" "del" "0" "00006" "PAH_001528" "g.103288695_103288696del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:934}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894917_102894918del" "" "pathogenic (recessive)" "" "0000907198" "0" "90" "12" "103288680" "103288681" "ins" "0" "00006" "PAH_001517" "g.103288680_103288681insTCAG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:935}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894902_102894903insTCAG" "" "pathogenic (recessive)" "" "0000907199" "0" "50" "12" "103288633" "103288633" "subst" "0" "00006" "PAH_001480" "g.103288633C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:936}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894855C>G" "" "VUS" "" "0000907200" "0" "50" "12" "103288632" "103288632" "subst" "0" "00006" "PAH_001476" "g.103288632T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:937}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894854T>A" "" "VUS" "" "0000907201" "0" "50" "12" "103288564" "103288564" "subst" "0" "00006" "PAH_001447" "g.103288564C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:938}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894786C>T" "" "VUS" "" "0000907202" "0" "90" "12" "103271330" "103271330" "subst" "0" "00006" "PAH_001404" "g.103271330T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:939}" "" "IVS3-2A>G" "" "Unknown" "" "" "0" "" "" "g.102877552T>C" "" "pathogenic (recessive)" "" "0000907203" "0" "50" "12" "103271320" "103271320" "subst" "0" "00006" "PAH_001394" "g.103271320A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:940}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877542A>C" "" "VUS" "" "0000907204" "0" "50" "12" "103271302" "103271302" "subst" "0" "00006" "PAH_001387" "g.103271302C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:941}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877524C>T" "" "VUS" "" "0000907205" "0" "50" "12" "103271301" "103271301" "subst" "0" "00006" "PAH_001386" "g.103271301T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:942}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877523T>C" "" "VUS" "" "0000907206" "0" "50" "12" "103260441" "103260441" "subst" "0" "00006" "PAH_001341" "g.103260441C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:943}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866663C>G" "" "VUS" "" "0000907207" "0" "90" "12" "103260378" "103260378" "subst" "0" "00006" "PAH_000356" "g.103260378G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:944}" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102866600G>T" "" "pathogenic (recessive)" "" "0000907208" "0" "50" "12" "103260374" "103260374" "subst" "0" "00006" "PAH_001303" "g.103260374T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:945}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866596T>G" "" "VUS" "" "0000907209" "0" "50" "12" "103249088" "103249088" "subst" "0" "00006" "PAH_001265" "g.103249088C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:946}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855310C>T" "" "VUS" "" "0000907210" "0" "50" "12" "103306679" "103306679" "subst" "0" "00006" "PAH_001602" "g.103306679A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:947}" "" "IVS1-3T>C" "" "Unknown" "" "" "0" "" "" "g.102912901A>G" "" "VUS" "" "0000907211" "0" "50" "12" "103310843" "103310844" "del" "0" "00006" "PAH_001617" "g.103310843_103310844del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:948}" "" "IVS1+5_+6del" "" "Unknown" "" "" "0" "" "" "g.102917065_102917066del" "" "VUS" "" "0000907212" "0" "50" "12" "103248952" "103248952" "subst" "1.6254E-5" "00006" "PAH_001179" "g.103248952T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:949}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855174T>A" "" "VUS" "" "0000907213" "0" "50" "12" "103246657" "103246657" "subst" "0" "00006" "PAH_001082" "g.103246657A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:950}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852879A>T" "" "VUS" "" "0000907214" "0" "90" "12" "103246602" "103246602" "del" "0" "00006" "PAH_000428" "g.103246602del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:951}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102852824del" "" "pathogenic (recessive)" "" "0000907215" "0" "50" "12" "103245506" "103245506" "subst" "0" "00006" "PAH_000989" "g.103245506C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:952}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851728C>T" "" "VUS" "" "0000907216" "0" "50" "12" "103245506" "103245506" "subst" "0" "00006" "PAH_000317" "g.103245506C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:953}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851728C>A" "" "VUS" "" "0000907217" "0" "50" "12" "103245503" "103245503" "subst" "0" "00006" "PAH_000987" "g.103245503G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:954}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851725G>A" "" "VUS" "" "0000907218" "0" "50" "12" "103245491" "103245491" "subst" "0" "00006" "PAH_000980" "g.103245491C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:955}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851713C>G" "" "VUS" "" "0000907219" "0" "50" "12" "103245467" "103245467" "subst" "0" "00006" "PAH_000314" "g.103245467G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:956}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851689G>T" "" "VUS" "" "0000907220" "0" "50" "12" "103238196" "103238196" "subst" "0" "00006" "PAH_000879" "g.103238196G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:957}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844418G>T" "" "VUS" "" "0000907221" "0" "50" "12" "103246705" "103246705" "subst" "0" "00006" "PAH_001116" "g.103246705G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:958}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852927G>A" "" "VUS" "" "0000907222" "0" "90" "12" "103237420" "103237420" "subst" "0" "00006" "PAH_000685" "g.103237420T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:959}" "" "IVS11+4A>G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843642T>C" "" "pathogenic (recessive)" "" "0000907223" "0" "50" "12" "103234265" "103234265" "subst" "0" "00006" "PAH_000646" "g.103234265A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:960}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840487A>T" "" "VUS" "" "0000907224" "0" "50" "12" "103240717" "103240717" "subst" "0" "00006" "PAH_000308" "g.103240717C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:961}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846939C>T" "" "VUS" "" "0000907225" "0" "90" "12" "103288583" "103288586" "del" "0" "00006" "PAH_001456" "g.103288583_103288586del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:962}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894805_102894808del" "" "pathogenic (recessive)" "" "0000907226" "0" "50" "12" "103249108" "103249108" "subst" "0" "00006" "PAH_001278" "g.103249108C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:963}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855330C>T" "" "VUS" "" "0000907227" "0" "90" "12" "103248968" "103248968" "del" "0" "00006" "PAH_001190" "g.103248968del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:965}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855190del" "" "pathogenic (recessive)" "" "0000907228" "0" "90" "12" "103260430" "103260430" "del" "0" "00006" "PAH_001333" "g.103260430del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:966}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866652del" "" "pathogenic (recessive)" "" "0000907229" "0" "50" "12" "103306689" "103306689" "del" "0" "00006" "PAH_001607" "g.103306689del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:968}" "" "IVS1-13del9" "" "Unknown" "" "" "0" "" "" "g.102912911del" "" "VUS" "" "0000907230" "0" "50" "12" "103245530" "103245530" "subst" "0" "00006" "PAH_001003" "g.103245530T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:969}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851752T>C" "" "VUS" "" "0000907231" "0" "50" "12" "103237336" "103237336" "del" "0" "00006" "PAH_000679" "g.103237336del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:970}" "" "IVS11+88del" "" "Unknown" "" "" "0" "" "" "g.102843558del" "" "VUS" "" "0000907232" "0" "50" "12" "103288636" "103288636" "subst" "0" "00006" "PAH_001483" "g.103288636A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:972}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894858A>G" "" "VUS" "" "0000907233" "0" "50" "12" "103271253" "103271253" "subst" "0" "00006" "PAH_001372" "g.103271253T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:973}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877475T>A" "" "VUS" "" "0000907234" "0" "90" "12" "103234173" "103234173" "subst" "0" "00006" "PAH_000598" "g.103234173C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:974}" "" "IVS12+5G" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840395C>T" "" "pathogenic (recessive)" "" "0000907235" "0" "50" "12" "103249068" "103249068" "subst" "0" "00006" "PAH_001254" "g.103249068C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:975}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855290C>A" "" "VUS" "" "0000907236" "0" "90" "12" "103288582" "103288585" "del" "0" "00006" "PAH_001455" "g.103288582_103288585del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:976}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894804_102894807del" "" "pathogenic (recessive)" "" "0000907237" "0" "90" "12" "103245546" "103245549" "del" "0" "00006" "PAH_001011" "g.103245546_103245549del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:977}" "" "IVS7del-13_843-10del, 843-14_11delCTTT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851768_102851771del" "" "pathogenic (recessive)" "" "0000907238" "0" "50" "12" "103306595" "103306595" "subst" "0" "00006" "PAH_001567" "g.103306595A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:978}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912817A>C" "" "VUS" "" "0000907239" "0" "50" "12" "103249005" "103249005" "subst" "0" "00006" "PAH_001205" "g.103249005C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:979}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855227C>A" "" "VUS" "" "0000907240" "0" "90" "12" "103232969" "103232972" "del" "0" "00006" "PAH_000578" "g.103232969_103232972del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:980}" "" "c.1342_1345delCTCC" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839191_102839194del" "" "pathogenic (recessive)" "" "0000907241" "0" "50" "12" "103234267" "103234267" "subst" "0" "00006" "PAH_000647" "g.103234267G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:982}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840489G>A" "" "VUS" "" "0000907242" "0" "50" "12" "103238196" "103238196" "subst" "0" "00006" "PAH_000880" "g.103238196G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:983}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844418G>A" "" "VUS" "" "0000907243" "0" "50" "12" "103237467" "103237467" "subst" "0" "00006" "PAH_000717" "g.103237467A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:984}, {BIOPKU:1403}" "" "c.1155_1156delinsGC" "" "Unknown" "" "" "0" "" "" "g.102843689A>G" "" "VUS" "" "0000907244" "0" "50" "12" "103234207" "103234207" "subst" "4.06134E-6" "00006" "PAH_000611" "g.103234207T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:985}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840429T>G" "" "VUS" "" "0000907245" "0" "50" "12" "103288547" "103288555" "del" "4.06141E-6" "00006" "PAH_001439" "g.103288547_103288555del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:986}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894769_102894777del" "" "VUS" "" "0000907246" "0" "50" "12" "103249030" "103249030" "subst" "0" "00006" "PAH_001228" "g.103249030A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:987}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855252A>C" "" "VUS" "" "0000907247" "0" "50" "12" "103271325" "103271325" "subst" "4.06309E-6" "00006" "PAH_001398" "g.103271325G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:988}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877547G>A" "" "VUS" "" "0000907248" "0" "50" "12" "103234328" "103234328" "subst" "0" "00006" "PAH_000675" "g.103234328C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:989}" "" "IVS11-35G>T" "" "Unknown" "" "" "0" "" "" "g.102840550C>A" "" "VUS" "" "0000907249" "0" "50" "12" "103288639" "103288639" "subst" "0" "00006" "PAH_001486" "g.103288639C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:990}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894861C>T" "" "VUS" "" "0000907250" "0" "50" "12" "103232982" "103232982" "subst" "0" "00006" "PAH_000584" "g.103232982G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:991}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839204G>A" "" "VUS" "" "0000907251" "0" "50" "12" "103232981" "103232981" "subst" "0" "00006" "PAH_000266" "g.103232981A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:992}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839203A>G" "" "VUS" "" "0000907252" "0" "50" "12" "103237554" "103237554" "subst" "0" "00006" "PAH_000482" "g.103237554A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:993}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843776A>G" "" "VUS" "" "0000907253" "0" "50" "12" "103238185" "103238185" "subst" "0" "00006" "PAH_000299" "g.103238185C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:994}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844407C>T" "" "VUS" "" "0000907254" "0" "50" "12" "103245512" "103245512" "subst" "0" "00006" "PAH_000318" "g.103245512C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:995}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851734C>T" "" "VUS" "" "0000907255" "0" "50" "12" "103246686" "103246686" "subst" "0" "00006" "PAH_001101" "g.103246686G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:996}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852908G>A" "" "VUS" "" "0000907256" "0" "50" "12" "103280756" "103280756" "subst" "0" "00006" "PAH_001416" "g.103280756G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:997}" "" "IVS3+7757C>G" "" "Unknown" "" "" "0" "" "" "g.102886978G>C" "" "VUS" "" "0000907257" "0" "50" "12" "103237479" "103237479" "subst" "0" "00006" "PAH_000184" "g.103237479A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:998}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843701A>G" "" "VUS" "" "0000907258" "0" "90" "12" "103237422" "103237422" "subst" "0" "00006" "PAH_000687" "g.103237422A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:999}" "" "IVS11+2T>G" "" "Unknown" "" "" "0" "" "" "g.102843644A>C" "" "pathogenic (recessive)" "" "0000907259" "0" "50" "12" "103306611" "103306613" "del" "0" "00006" "PAH_001578" "g.103306611_103306613del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1009}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912833_102912835del" "" "VUS" "" "0000907260" "0" "90" "12" "103260421" "103260421" "del" "0" "00006" "PAH_001324" "g.103260421del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1012}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866643del" "" "pathogenic (recessive)" "" "0000907261" "0" "50" "12" "103249078" "103249080" "del" "0" "00006" "PAH_001261" "g.103249078_103249080del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1013}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855300_102855302del" "" "VUS" "" "0000907262" "0" "90" "12" "103234177" "103234182" "del" "0" "00006" "PAH_000470" "g.103234177_103234182del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1014}" "" "1314-1315+4del6" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840399_102840404del" "" "pathogenic (recessive)" "" "0000907263" "0" "90" "12" "103288678" "103288681" "dup" "0" "00006" "PAH_001515" "g.103288678_103288681dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1016}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894900_102894903dup" "" "pathogenic (recessive)" "" "0000907264" "0" "90" "12" "103248946" "103248953" "dup" "0" "00006" "PAH_001174" "g.103248946_103248953dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1017}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855168_102855175dup" "" "pathogenic (recessive)" "" "0000907265" "0" "50" "12" "103310849" "103310850" "delins" "0" "00006" "PAH_000393" "g.103310849_103310850delinsGG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1018}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917071_102917072delinsGG" "" "VUS" "" "0000907266" "0" "50" "12" "103237452" "103237454" "delins" "0" "00006" "PAH_000702" "g.103237452_103237454delinsCCC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1019}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843674_102843676delinsCCC" "" "VUS" "" "0000907267" "0" "90" "12" "103248934" "103248934" "dup" "0" "00006" "PAH_001162" "g.103248934dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1021}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855156dup" "" "pathogenic (recessive)" "" "0000907268" "0" "90" "12" "103306650" "103306650" "subst" "0" "00006" "PAH_000390" "g.103306650G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1022}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912872G>T" "" "pathogenic (recessive)" "" "0000907269" "0" "50" "12" "103234270" "103234270" "subst" "0" "00006" "PAH_000467" "g.103234270C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1023}" "" "Arg408Leu / Arg400LysfsTer2" "" "Unknown" "" "" "0" "" "" "g.102840492C>A" "" "VUS" "" "0000907270" "0" "50" "12" "103237527" "103237527" "subst" "0" "00006" "PAH_000759" "g.103237527G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1025}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843749G>C" "" "VUS" "" "0000907271" "0" "50" "12" "103288642" "103288642" "subst" "0" "00006" "PAH_001489" "g.103288642C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1026}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894864C>G" "" "VUS" "" "0000907272" "0" "90" "12" "103288530" "103288530" "dup" "0" "00006" "PAH_001434" "g.103288530dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1027}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894752dup" "" "pathogenic (recessive)" "" "0000907273" "0" "90" "12" "103249076" "103249080" "del" "0" "00006" "PAH_001259" "g.103249076_103249080del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1028}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855298_102855302del" "" "pathogenic (recessive)" "" "0000907274" "0" "50" "12" "103288608" "103288608" "subst" "0" "00006" "PAH_001467" "g.103288608C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1030}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894830C>G" "" "VUS" "" "0000907275" "0" "50" "12" "103288666" "103288666" "subst" "0" "00006" "PAH_001504" "g.103288666A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1031}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894888A>C" "" "VUS" "" "0000907276" "0" "50" "12" "103271256" "103271256" "subst" "0" "00006" "PAH_001373" "g.103271256A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1032}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877478A>G" "" "VUS" "" "0000907277" "0" "50" "12" "103271298" "103271298" "subst" "0" "00006" "PAH_001384" "g.103271298A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1033}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877520A>G" "" "VUS" "" "0000907278" "0" "50" "12" "103248979" "103248979" "subst" "0" "00006" "PAH_001194" "g.103248979T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1034}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855201T>C" "" "VUS" "" "0000907279" "0" "50" "12" "103237440" "103237440" "subst" "0" "00006" "PAH_000697" "g.103237440C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1035}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843662C>A" "" "VUS" "" "0000907280" "0" "50" "12" "103306581" "103306581" "subst" "0" "00006" "PAH_001558" "g.103306581C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1036}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912803C>A" "" "VUS" "" "0000907281" "0" "50" "12" "103237479" "103237479" "subst" "0" "00006" "PAH_000726" "g.103237479A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1037}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843701A>T" "" "VUS" "" "0000907282" "0" "90" "12" "103240710" "103240710" "subst" "0" "00006" "PAH_000941" "g.103240710A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1038}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102846932A>C" "" "pathogenic (recessive)" "" "0000907283" "0" "50" "12" "103288683" "103288683" "subst" "0" "00006" "PAH_001521" "g.103288683T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1039}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894905T>C" "" "VUS" "" "0000907284" "0" "90" "12" "103246608" "103246608" "subst" "8.12618E-6" "00006" "PAH_001035" "g.103246608A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1040}" "" "" "allelic phenotype value 10, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102852830A>G" "" "pathogenic (recessive)" "" "0000907285" "0" "50" "12" "103249013" "103249013" "subst" "0" "00006" "PAH_001216" "g.103249013A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1041}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855235A>C" "" "VUS" "" "0000907286" "0" "50" "12" "103237498" "103237498" "subst" "0" "00006" "PAH_000739" "g.103237498T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1042}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843720T>G" "" "VUS" "" "0000907287" "0" "50" "12" "103237533" "103237533" "subst" "0" "00006" "PAH_000768" "g.103237533G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1043}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843755G>A" "" "VUS" "" "0000907288" "0" "50" "12" "103234258" "103234258" "subst" "0" "00006" "PAH_000642" "g.103234258A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1044}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840480A>T" "" "VUS" "" "0000907289" "0" "50" "12" "103240702" "103240702" "subst" "0" "00006" "PAH_000931" "g.103240702G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1045}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846924G>C" "" "VUS" "" "0000907290" "0" "50" "12" "103248909" "103248909" "subst" "0" "00006" "PAH_001143" "g.103248909C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1046}" "" "IVS6+5G>A" "" "Unknown" "" "" "0" "" "" "g.102855131C>T" "" "VUS" "" "0000907291" "0" "50" "12" "103237405" "103237405" "subst" "0" "00006" "PAH_000683" "g.103237405A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1047}" "" "IVS11+19T>C" "" "Unknown" "" "" "0" "" "" "g.102843627A>G" "" "VUS" "" "0000907292" "0" "50" "12" "103234305" "103234305" "del" "0" "00006" "PAH_000674" "g.103234305del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1048}" "" "IVS11-9del" "" "Unknown" "" "" "0" "" "" "g.102840527del" "" "VUS" "" "0000907293" "0" "90" "12" "103238122" "103238122" "subst" "0" "00006" "PAH_000825" "g.103238122C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1049}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844344C>A" "" "pathogenic (recessive)" "" "0000907294" "0" "90" "12" "103249011" "103249011" "subst" "0" "00006" "PAH_001215" "g.103249011G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1050}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855233G>T" "" "pathogenic (recessive)" "" "0000907295" "0" "90" "12" "103245525" "103245525" "subst" "0" "00006" "PAH_000999" "g.103245525G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1051}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102851747G>T" "" "pathogenic (recessive)" "" "0000907296" "0" "90" "12" "103306666" "103306667" "dup" "0" "00006" "PAH_001598" "g.103306666_103306667dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1052}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912888_102912889dup" "" "pathogenic (recessive)" "" "0000907297" "0" "90" "12" "103310850" "103310850" "delins" "0" "00006" "PAH_001622" "g.103310850delinsGG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1053}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917072delinsGG" "" "pathogenic (recessive)" "" "0000907298" "0" "90" "12" "103310885" "103310886" "delins" "0" "00006" "PAH_001635" "g.103310885_103310886delinsA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1054}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917107_102917108delinsA" "" "pathogenic (recessive)" "" "0000907299" "0" "90" "12" "103249077" "103249080" "del" "0" "00006" "PAH_001260" "g.103249077_103249080del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1055}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855299_102855302del" "" "pathogenic (recessive)" "" "0000907300" "0" "90" "12" "103237453" "103237454" "ins" "0" "00006" "PAH_000705" "g.103237453_103237454insG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1056}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843675_102843676insG" "" "pathogenic (recessive)" "" "0000907301" "0" "50" "12" "103306592" "103306592" "subst" "0" "00006" "PAH_001565" "g.103306592C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1058}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912814C>T" "" "VUS" "" "0000907302" "0" "50" "12" "103238156" "103238156" "subst" "4.06504E-5" "00006" "PAH_000852" "g.103238156C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1059}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844378C>T" "" "VUS" "" "0000907303" "0" "50" "12" "103249082" "103249082" "subst" "0" "00006" "PAH_001262" "g.103249082T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1060}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855304T>C" "" "VUS" "" "0000907304" "0" "50" "12" "103260455" "103260455" "subst" "2.4398E-5" "00006" "PAH_001345" "g.103260455G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1061}" "" "IVS4-14C>T" "" "Unknown" "" "" "0" "" "" "g.102866677G>A" "" "VUS" "" "0000907305" "0" "50" "12" "103245449" "103245449" "subst" "0" "00006" "PAH_000959" "g.103245449A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1062}" "" "IVS8+16T>A" "" "Unknown" "" "" "0" "" "" "g.102851671A>T" "" "VUS" "" "0000907306" "0" "50" "12" "103234296" "103234296" "subst" "0" "00006" "PAH_000668" "g.103234296A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1064}" "" "IVS11-3T>G" "" "Unknown" "" "" "0" "" "" "g.102840518A>C" "" "VUS" "" "0000907307" "0" "90" "12" "103260421" "103260421" "subst" "0" "00006" "PAH_001325" "g.103260421G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1065}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866643G>T" "" "pathogenic (recessive)" "" "0000907308" "0" "90" "12" "103246631" "103246631" "subst" "0" "00006" "PAH_001052" "g.103246631G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1066}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852853G>T" "" "pathogenic (recessive)" "" "0000907309" "0" "90" "12" "103249040" "103249040" "delins" "0" "00006" "PAH_001235" "g.103249040delinsTC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1067}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855262delinsTC" "" "pathogenic (recessive)" "" "0000907310" "0" "50" "12" "103288585" "103288585" "subst" "0.000113723" "00006" "PAH_000377" "g.103288585T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1068}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894807T>C" "" "VUS" "" "0000907311" "0" "50" "12" "103249057" "103249057" "subst" "0" "00006" "PAH_001246" "g.103249057C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1069}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855279C>A" "" "VUS" "" "0000907312" "0" "50" "12" "103249013" "103249013" "subst" "0" "00006" "PAH_001217" "g.103249013A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1070}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855235A>T" "" "VUS" "" "0000907313" "0" "50" "12" "103248941" "103248941" "subst" "0" "00006" "PAH_001168" "g.103248941G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1071}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855163G>C" "" "VUS" "" "0000907314" "0" "50" "12" "103248936" "103248936" "subst" "0" "00006" "PAH_001164" "g.103248936T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1072}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855158T>G" "" "VUS" "" "0000907315" "0" "50" "12" "103240713" "103240713" "subst" "0" "00006" "PAH_000944" "g.103240713G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1073}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846935G>C" "" "VUS" "" "0000907316" "0" "50" "12" "103238156" "103238156" "subst" "0" "00006" "PAH_000853" "g.103238156C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1074}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844378C>G" "" "VUS" "" "0000907317" "0" "50" "12" "103237539" "103237539" "subst" "4.06607E-6" "00006" "PAH_000775" "g.103237539G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1075}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843761G>A" "" "VUS" "" "0000907318" "0" "50" "12" "103238163" "103238163" "subst" "0" "00006" "PAH_000858" "g.103238163G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1076}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844385G>A" "" "VUS" "" "0000907319" "0" "50" "12" "103288614" "103288614" "subst" "0" "00006" "PAH_000252" "g.103288614T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1078}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894836T>C" "" "VUS" "" "0000907320" "0" "50" "12" "103240708" "103240708" "subst" "0" "00006" "PAH_000938" "g.103240708C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1079}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846930C>A" "" "VUS" "" "0000907321" "0" "50" "12" "103288555" "103288555" "subst" "0" "00006" "PAH_001441" "g.103288555C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1080}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894777C>A" "" "VUS" "" "0000907322" "0" "50" "12" "103246713" "103246713" "subst" "0" "00006" "PAH_001119" "g.103246713C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1081}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852935C>G" "" "VUS" "" "0000907323" "0" "50" "12" "103249043" "103249043" "subst" "0" "00006" "PAH_001237" "g.103249043T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1082}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855265T>G" "" "VUS" "" "0000907324" "0" "50" "12" "103288554" "103288554" "subst" "0" "00006" "PAH_000124" "g.103288554G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1083}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894776G>A" "" "VUS" "" "0000907325" "0" "50" "12" "103248937" "103248937" "subst" "0" "00006" "PAH_001165" "g.103248937T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1084}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855159T>C" "" "VUS" "" "0000907326" "0" "50" "12" "103249018" "103249018" "subst" "0" "00006" "PAH_001220" "g.103249018T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1085}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855240T>G" "" "VUS" "" "0000907327" "0" "50" "12" "103306594" "103306594" "subst" "0" "00006" "PAH_001566" "g.103306594A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1086}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912816A>C" "" "VUS" "" "0000907328" "0" "90" "12" "103288512" "103311381" "del" "0" "00006" "PAH_001426" "g.(103271329_103288512)_(103311381_?)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1088}, {BIOPKU:1089}" "" "del ex1-3 c.(1-1393_1-405)_(352+33_370)del" "" "Unknown" "" "" "0" "" "" "g.(102877551_102894734)_(102917603_?)del" "" "pathogenic (recessive)" "" "0000907329" "0" "90" "12" "103310907" "103310907" "subst" "8.12203E-6" "00006" "PAH_000535" "g.103310907A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1090}" "" "(Met1Thr)" "" "Unknown" "" "" "0" "" "" "g.102917129A>G" "" "pathogenic (recessive)" "" "0000907330" "0" "90" "12" "103288697" "103288697" "subst" "0" "00006" "PAH_000529" "g.103288697C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1091}" "" "IVS2-1G>A" "" "Unknown" "" "" "0" "" "" "g.102894919C>T" "" "pathogenic (recessive)" "" "0000907331" "0" "50" "12" "103288531" "103288531" "subst" "0" "00006" "PAH_000522" "g.103288531C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1092}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894753C>G" "" "VUS" "" "0000907332" "0" "90" "12" "103260377" "103260377" "del" "0" "00006" "PAH_000511" "g.103260377del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1093}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866599del" "" "pathogenic (recessive)" "" "0000907333" "0" "50" "12" "103249028" "103249028" "subst" "0" "00006" "PAH_000504" "g.103249028A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1094}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855250A>C" "" "VUS" "" "0000907334" "0" "50" "12" "103248970" "103248970" "subst" "0" "00006" "PAH_000499" "g.103248970C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1095}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855192C>A" "" "VUS" "" "0000907335" "0" "90" "12" "103246729" "103246729" "subst" "0" "00006" "PAH_000497" "g.103246729C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1096}" "" "IVS6-1G>C" "" "Unknown" "" "" "0" "" "" "g.102852951C>G" "" "pathogenic (recessive)" "" "0000907336" "0" "50" "12" "103246662" "103246662" "subst" "0" "00006" "PAH_000332" "g.103246662A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1097}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852884A>C" "" "VUS" "" "0000907337" "0" "50" "12" "103246634" "103246634" "subst" "4.06303E-6" "00006" "PAH_000494" "g.103246634C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1098}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852856C>A" "" "VUS" "" "0000907338" "0" "50" "12" "103240668" "103240668" "subst" "0" "00006" "PAH_000488" "g.103240668C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1099}" "" "IVS9+5G>C" "" "Unknown" "" "" "0" "" "" "g.102846890C>G" "" "VUS" "" "0000907339" "0" "90" "12" "103237559" "103237559" "subst" "0" "00006" "PAH_000483" "g.103237559T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1101}" "" "IVS10-2A>G" "" "Unknown" "" "" "0" "" "" "g.102843781T>C" "" "pathogenic (recessive)" "" "0000907340" "0" "90" "12" "103237517" "103237520" "dup" "0" "00006" "PAH_000480" "g.103237517_103237520dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1102}" "" "c.1106_1107insAGCT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843739_102843742dup" "" "pathogenic (recessive)" "" "0000907341" "0" "50" "12" "103248878" "103248878" "subst" "0" "00006" "PAH_001139" "g.103248878C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1104}" "" "IVS6+36G>T" "" "Unknown" "" "" "0" "" "" "g.102855100C>A" "" "VUS" "" "0000907342" "0" "50" "12" "103248870" "103248870" "subst" "0" "00006" "PAH_001138" "g.103248870T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1105}" "" "IVS6+44A>G" "" "Unknown" "" "" "0" "" "" "g.102855092T>C" "" "VUS" "" "0000907343" "0" "50" "12" "103237572" "103237572" "subst" "0" "00006" "PAH_000804" "g.103237572T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1106}" "" "IVS10-15A>C" "" "Unknown" "" "" "0" "" "" "g.102843794T>G" "" "VUS" "" "0000907344" "0" "50" "12" "103260437" "103260437" "subst" "0" "00006" "PAH_001339" "g.103260437A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1107}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866659A>G" "" "VUS" "" "0000907345" "0" "50" "12" "103248910" "103248910" "subst" "0" "00006" "PAH_001144" "g.103248910T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1108}" "" "IVS6+4A>T" "" "Unknown" "" "" "0" "" "" "g.102855132T>A" "" "VUS" "" "0000907346" "0" "50" "12" "103246653" "103246653" "subst" "0" "00006" "PAH_001080" "g.103246653C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1109}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852875C>A" "" "VUS" "" "0000907347" "0" "50" "12" "103249096" "103249096" "subst" "0" "00006" "PAH_001269" "g.103249096G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1110}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855318G>C" "" "VUS" "" "0000907348" "0" "90" "12" "103306630" "103306630" "subst" "0" "00006" "PAH_001587" "g.103306630G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1111}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912852G>T" "" "pathogenic (recessive)" "" "0000907349" "0" "50" "12" "103288580" "103288580" "subst" "0" "00006" "PAH_001451" "g.103288580G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1112}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894802G>A" "" "VUS" "" "0000907350" "0" "50" "12" "103271240" "103271240" "subst" "0" "00006" "PAH_001367" "g.103271240A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1113}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877462A>G" "" "VUS" "" "0000907351" "0" "90" "12" "103249063" "103249063" "subst" "0" "00006" "PAH_001252" "g.103249063G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1114}" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102855285G>A" "" "pathogenic (recessive)" "" "0000907352" "0" "50" "12" "103246671" "103246671" "subst" "0" "00006" "PAH_001090" "g.103246671A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1115}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852893A>C" "" "VUS" "" "0000907353" "0" "50" "12" "103245473" "103245473" "subst" "0" "00006" "PAH_000967" "g.103245473A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1116}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851695A>C" "" "VUS" "" "0000907354" "0" "90" "12" "103234255" "103234255" "subst" "6.09221E-5" "00006" "PAH_000199" "g.103234255C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1117}" "" "" "allelic phenotype value 9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102840477C>T" "" "pathogenic (recessive)" "" "0000907355" "0" "90" "12" "103271238" "103271238" "subst" "0" "00006" "PAH_001362" "g.103271238A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1118}" "" "IVS4+2T>C" "" "Unknown" "" "" "0" "" "" "g.102877460A>G" "" "pathogenic (recessive)" "" "0000907356" "0" "50" "12" "103238163" "103238163" "subst" "0" "00006" "PAH_000859" "g.103238163G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1119}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844385G>T" "" "VUS" "" "0000907357" "0" "50" "12" "103238179" "103238179" "subst" "0" "00006" "PAH_000870" "g.103238179A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1120}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844401A>G" "" "VUS" "" "0000907358" "0" "50" "12" "103237513" "103237513" "subst" "0" "00006" "PAH_000746" "g.103237513C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1121}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843735C>A" "" "VUS" "" "0000907359" "0" "90" "12" "103248913" "103248913" "subst" "0" "00006" "PAH_001145" "g.103248913C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1122}" "" "IVS6+1G>T" "" "Unknown" "" "" "0" "" "" "g.102855135C>A" "" "pathogenic (recessive)" "" "0000907360" "0" "50" "12" "103249109" "103249109" "subst" "0" "00006" "PAH_000147" "g.103249109C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1123}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855331C>G" "" "VUS" "" "0000907361" "0" "50" "12" "103310960" "103310960" "subst" "0" "00006" "PAH_000396" "g.103310960C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1124}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917182C>G" "" "VUS" "" "0000907362" "0" "50" "12" "103306586" "103306586" "subst" "0" "00006" "PAH_000387" "g.103306586C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1125}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912808C>G" "" "VUS" "" "0000907363" "0" "50" "12" "103288660" "103288660" "subst" "0" "00006" "PAH_000381" "g.103288660G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1126}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894882G>T" "" "VUS" "" "0000907364" "0" "50" "12" "103288533" "103288533" "subst" "8.12348E-6" "00006" "PAH_000375" "g.103288533C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1127}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894755C>T" "" "VUS" "" "0000907365" "0" "50" "12" "103260429" "103260429" "subst" "0" "00006" "PAH_000365" "g.103260429G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1128}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866651G>T" "" "VUS" "" "0000907366" "0" "90" "12" "103260408" "103260408" "subst" "0" "00006" "PAH_000361" "g.103260408T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1129}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866630T>A" "" "pathogenic (recessive)" "" "0000907367" "0" "50" "12" "103260381" "103260381" "subst" "0" "00006" "PAH_000358" "g.103260381A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1130}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866603A>T" "" "VUS" "" "0000907368" "0" "50" "12" "103248026" "103255818" "delins" "0" "00006" "PAH_000337" "g.103248026_103255818delinsCC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1131}" "" "del ex6 c.510-6708_706+888del7793insGG" "" "Unknown" "" "" "0" "" "" "g.102854248_102862040delinsCC" "" "VUS" "" "0000907369" "0" "50" "12" "103246598" "103246598" "subst" "0.000178828" "00006" "PAH_000071" "g.103246598G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1132}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852820G>A" "" "VUS" "" "0000907370" "0" "50" "12" "103245540" "103245540" "subst" "0" "00006" "PAH_000320" "g.103245540A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1133}" "" "IVS7-6T>C" "" "Unknown" "" "" "0" "" "" "g.102851762A>G" "" "VUS" "" "0000907371" "0" "50" "12" "103240669" "103240669" "subst" "0" "00006" "PAH_000303" "g.103240669T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1134}" "" "IVS9+4A>T" "" "Unknown" "" "" "0" "" "" "g.102846891T>A" "" "VUS" "" "0000907372" "0" "50" "12" "103238212" "103238212" "subst" "0" "00006" "PAH_000894" "g.103238212G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1135}" "" "IVS9-3C>T" "" "Unknown" "" "" "0" "" "" "g.102844434G>A" "" "VUS" "" "0000907373" "0" "50" "12" "103238155" "103238155" "subst" "0" "00006" "PAH_000296" "g.103238155C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1136}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844377C>A" "" "VUS" "" "0000907374" "0" "50" "12" "103237476" "103237476" "subst" "0" "00006" "PAH_000286" "g.103237476G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1137}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843698G>C" "" "VUS" "" "0000907375" "0" "50" "12" "103234190" "103234190" "subst" "0" "00006" "PAH_000271" "g.103234190C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1138}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840412C>T" "" "VUS" "" "0000907376" "0" "50" "12" "103234173" "103234173" "subst" "0" "00006" "PAH_000599" "g.103234173C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1139}" "" "IVS12+5G>T" "" "Unknown" "" "" "0" "" "" "g.102840395C>A" "" "VUS" "" "0000907377" "0" "90" "12" "103288512" "103288697" "del" "0" "00006" "PAH_000374" "g.(103271329_103288512)_(103288697_103306568)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:686}, {BIOPKU:967}, {BIOPKU:1411}" "" "del ex3 c.169-?_352+?del, c.170_352+1del" "" "Unknown" "" "" "0" "" "" "g.(102877551_102894734)_(102894919_102912790)del" "" "pathogenic (recessive)" "" "0000907378" "0" "90" "12" "103234198" "103234198" "dup" "0" "00006" "PAH_000607" "g.103234198dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1143}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840420dup" "" "pathogenic (recessive)" "" "0000907379" "0" "50" "12" "103260396" "103260396" "subst" "0" "00006" "PAH_001313" "g.103260396C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1144}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866618C>T" "" "VUS" "" "0000907380" "0" "50" "12" "103246655" "103246655" "subst" "0" "00006" "PAH_001081" "g.103246655G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1145}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852877G>C" "" "VUS" "" "0000907381" "0" "90" "12" "103288543" "103288543" "subst" "0" "00006" "PAH_001438" "g.103288543C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1146}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894765C>A" "" "pathogenic (recessive)" "" "0000907382" "0" "90" "12" "103248779" "103260430" "del" "0" "00006" "PAH_000339" "g.103248779_103260430del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:768}, {BIOPKU:1147}" "" "ex5-6del, g.11653bpdel" "" "Unknown" "" "" "0" "" "" "g.102855001_102866652del" "" "pathogenic (recessive)" "" "0000907383" "0" "90" "12" "103234248" "103234248" "del" "0" "00006" "PAH_000473" "g.103234248del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1148}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840470del" "" "pathogenic (recessive)" "" "0000907384" "0" "90" "12" "103234273" "103234277" "del" "0" "00006" "PAH_000651" "g.103234273_103234277del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1149}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840495_102840499del" "" "pathogenic (recessive)" "" "0000907385" "0" "90" "12" "103238119" "103238119" "dup" "0" "00006" "PAH_000822" "g.103238119dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1150}" "" "" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102844341dup" "" "pathogenic (recessive)" "" "0000907386" "0" "50" "12" "103246787" "103246787" "subst" "0" "00006" "PAH_001134" "g.103246787G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1151}" "" "IVS6-59C>G" "" "Unknown" "" "" "0" "" "" "g.102853009G>C" "" "VUS" "" "0000907387" "0" "90" "12" "103246692" "103246692" "del" "0" "00006" "PAH_001106" "g.103246692del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1152}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852914del" "" "pathogenic (recessive)" "" "0000907388" "0" "90" "12" "103288632" "103288632" "dup" "0" "00006" "PAH_001477" "g.103288632dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1153}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894854dup" "" "pathogenic (recessive)" "" "0000907389" "0" "50" "12" "103246600" "103246600" "subst" "0" "00006" "PAH_001027" "g.103246600G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1154}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852822G>T" "" "VUS" "" "0000907390" "0" "50" "12" "103249105" "103249105" "subst" "0" "00006" "PAH_001274" "g.103249105T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1155}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855327T>C" "" "VUS" "" "0000907391" "0" "50" "12" "103237551" "103237551" "subst" "0" "00006" "PAH_000783" "g.103237551A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1156}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843773A>C" "" "VUS" "" "0000907392" "0" "50" "12" "103237516" "103237516" "subst" "0" "00006" "PAH_000748" "g.103237516C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1157}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843738C>T" "" "VUS" "" "0000907393" "0" "90" "12" "103232990" "103232990" "dup" "0" "00006" "PAH_000586" "g.103232990dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1158}" "" "c.1323_1324insT" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839212dup" "" "pathogenic (recessive)" "" "0000907394" "0" "90" "12" "103260389" "103260390" "ins" "0" "00006" "PAH_001311" "g.103260389_103260390insA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1160}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866611_102866612insA" "" "pathogenic (recessive)" "" "0000907395" "0" "50" "12" "103246680" "103246680" "subst" "0" "00006" "PAH_001095" "g.103246680C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1161}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852902C>A" "" "VUS" "" "0000907396" "0" "50" "12" "103234268" "103234268" "subst" "4.06147E-6" "00006" "PAH_000648" "g.103234268G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1162}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840490G>A" "" "VUS" "" "0000907397" "0" "50" "12" "103260411" "103260411" "subst" "0" "00006" "PAH_001318" "g.103260411G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1164}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866633G>C" "" "VUS" "" "0000907398" "0" "90" "12" "103234294" "103234294" "subst" "0" "00006" "PAH_000666" "g.103234294C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1165}" "" "IVS11-1G>T" "" "Unknown" "" "" "0" "" "" "g.102840516C>A" "" "pathogenic (recessive)" "" "0000907399" "0" "90" "12" "103271239" "103271239" "subst" "0" "00006" "PAH_001364" "g.103271239C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1166}" "" "IVS4+1G>T" "" "Unknown" "" "" "0" "" "" "g.102877461C>A" "" "pathogenic (recessive)" "" "0000907400" "0" "90" "12" "103248985" "103248985" "del" "0" "00006" "PAH_001196" "g.103248985del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1167}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855207del" "" "pathogenic (recessive)" "" "0000907401" "0" "50" "12" "103306632" "103306632" "subst" "0" "00006" "PAH_001588" "g.103306632T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1168}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912854T>C" "" "VUS" "" "0000907402" "0" "50" "12" "103234274" "103234274" "subst" "0" "00006" "PAH_000653" "g.103234274G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1169}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840496G>T" "" "VUS" "" "0000907403" "0" "50" "12" "103246638" "103246638" "subst" "0" "00006" "PAH_001061" "g.103246638G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1170}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852860G>A" "" "VUS" "" "0000907404" "0" "50" "12" "103238154" "103238154" "subst" "0" "00006" "PAH_000849" "g.103238154G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1172}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844376G>T" "" "VUS" "" "0000907405" "0" "90" "12" "103237466" "103237466" "del" "0" "00006" "PAH_000715" "g.103237466del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1173}" "" "c.1157delA" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102843688del" "" "pathogenic (recessive)" "" "0000907406" "0" "50" "12" "103240681" "103240681" "subst" "0" "00006" "PAH_000915" "g.103240681G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1174}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846903G>A" "" "VUS" "" "0000907407" "0" "50" "12" "103288545" "103288545" "subst" "0" "00006" "PAH_000122" "g.103288545T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1175}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894767T>G" "" "VUS" "" "0000907408" "0" "50" "12" "103240714" "103240714" "subst" "0" "00006" "PAH_000143" "g.103240714A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1176}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846936A>G" "" "VUS" "" "0000907409" "0" "90" "12" "103246700" "103246701" "inv" "0" "00006" "PAH_001110" "g.103246700_103246701inv" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1177}" "" "c.734_735delTGinsCA" "allelic phenotype value 9.9, variant associated with mild HPA" "Unknown" "" "" "0" "" "" "g.102852922_102852923inv" "" "pathogenic (recessive)" "" "0000907410" "0" "50" "12" "103238205" "103238205" "subst" "0" "00006" "PAH_000888" "g.103238205T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1178}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844427T>G" "" "VUS" "" "0000907411" "0" "50" "12" "103246622" "103246622" "subst" "0" "00006" "PAH_001042" "g.103246622A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1179}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852844A>T" "" "VUS" "" "0000907412" "0" "90" "12" "103260435" "103260435" "dup" "0" "00006" "PAH_001337" "g.103260435dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1180}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866657dup" "" "pathogenic (recessive)" "" "0000907413" "0" "90" "12" "103288619" "103288619" "del" "0" "00006" "PAH_001471" "g.103288619del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1181}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894841del" "" "pathogenic (recessive)" "" "0000907414" "0" "50" "12" "103248925" "103248925" "subst" "0" "00006" "PAH_001154" "g.103248925T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1182}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855147T>G" "" "VUS" "" "0000907415" "0" "50" "12" "103246725" "103246725" "subst" "0" "00006" "PAH_001129" "g.103246725C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1183}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852947C>A" "" "VUS" "" "0000907416" "0" "50" "12" "103245478" "103245478" "subst" "0" "00006" "PAH_000973" "g.103245478G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1184}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851700G>T" "" "VUS" "" "0000907417" "0" "50" "12" "103240708" "103240708" "subst" "4.06448E-6" "00006" "PAH_000939" "g.103240708C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1185}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846930C>T" "" "VUS" "" "0000907418" "0" "50" "12" "103238197" "103238197" "subst" "0" "00006" "PAH_000882" "g.103238197T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1186}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844419T>G" "" "VUS" "" "0000907419" "0" "90" "12" "103234242" "103234242" "subst" "0" "00006" "PAH_000627" "g.103234242G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1187}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840464G>T" "" "pathogenic (recessive)" "" "0000907420" "0" "50" "12" "103234189" "103234189" "subst" "0" "00006" "PAH_000604" "g.103234189T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1188}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840411T>A" "" "VUS" "" "0000907421" "0" "90" "12" "103232997" "103232997" "subst" "0" "00006" "PAH_000587" "g.103232997C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1189}" "" "IVS12-1G>A" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102839219C>T" "" "pathogenic (recessive)" "" "0000907422" "0" "90" "12" "103249046" "103249046" "subst" "0" "00006" "PAH_001238" "g.103249046T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1190}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855268T>A" "" "pathogenic (recessive)" "" "0000907423" "0" "50" "12" "103288600" "103288600" "subst" "4.06151E-6" "00006" "PAH_001464" "g.103288600G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1191}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894822G>T" "" "VUS" "" "0000907424" "0" "90" "12" "103310877" "103310877" "subst" "0" "00006" "PAH_001632" "g.103310877A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1192}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917099A>T" "" "pathogenic (recessive)" "" "0000907425" "0" "90" "12" "103234295" "103234295" "subst" "0" "00006" "PAH_000667" "g.103234295T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1193}" "" "IVS12-2A>C" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.102840517T>G" "" "pathogenic (recessive)" "" "0000907426" "0" "50" "12" "103237521" "103237521" "subst" "4.06504E-6" "00006" "PAH_000750" "g.103237521C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1194}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843743C>T" "" "VUS" "" "0000907427" "0" "90" "12" "103249030" "103249030" "subst" "0" "00006" "PAH_001229" "g.103249030A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1195}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855252A>T" "" "pathogenic (recessive)" "" "0000907428" "0" "50" "12" "103237514" "103237514" "subst" "0" "00006" "PAH_000747" "g.103237514T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1196}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843736T>C" "" "VUS" "" "0000907429" "0" "90" "12" "103288519" "103288520" "del" "0" "00006" "PAH_001430" "g.103288519_103288520del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1197}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894741_102894742del" "" "pathogenic (recessive)" "" "0000907430" "0" "50" "12" "103288581" "103288581" "subst" "0" "00006" "PAH_001453" "g.103288581A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1200}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894803A>G" "" "VUS" "" "0000907431" "0" "50" "12" "103237431" "103237431" "subst" "0" "00006" "PAH_000692" "g.103237431T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1201}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843653T>C" "" "VUS" "" "0000907432" "0" "50" "12" "103234249" "103234249" "subst" "0" "00006" "PAH_000019" "g.103234249T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1202}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840471T>G" "" "VUS" "" "0000907433" "0" "50" "12" "103234265" "103234265" "subst" "0" "00006" "PAH_000024" "g.103234265A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1203}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840487A>G" "" "VUS" "" "0000907434" "0" "50" "12" "103237462" "103237462" "subst" "0.000235763" "00006" "PAH_000030" "g.103237462G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1204}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843684G>A" "" "VUS" "" "0000907435" "0" "50" "12" "103237496" "103237496" "subst" "0" "00006" "PAH_000034" "g.103237496T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1205}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843718T>G" "" "VUS" "" "0000907436" "0" "50" "12" "103237504" "103237504" "subst" "0" "00006" "PAH_000035" "g.103237504G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1206}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843726G>A" "" "VUS" "" "0000907437" "0" "50" "12" "103237750" "103237750" "subst" "0" "00006" "PAH_000013" "g.103237750C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1207}" "" "IVS10-193G>C" "" "Unknown" "" "" "0" "" "" "g.102843972C>G" "" "VUS" "" "0000907438" "0" "90" "12" "103238122" "103238123" "ins" "0" "00006" "PAH_000152" "g.103238122_103238123insTGAC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1208}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844344_102844345insTGAC" "" "pathogenic (recessive)" "" "0000907439" "0" "90" "12" "103238138" "103238138" "del" "0" "00006" "PAH_000048" "g.103238138del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1210}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844360del" "" "pathogenic (recessive)" "" "0000907440" "0" "50" "12" "103238138" "103238138" "subst" "0" "00006" "PAH_000047" "g.103238138G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1211}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844360G>C" "" "VUS" "" "0000907441" "0" "50" "12" "103245501" "103245501" "subst" "0" "00006" "PAH_000155" "g.103245501G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1213}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851723G>T" "" "VUS" "" "0000907442" "0" "50" "12" "103245502" "103245502" "subst" "0" "00006" "PAH_000156" "g.103245502G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1214}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851724G>T" "" "VUS" "" "0000907443" "0" "50" "12" "103246672" "103246672" "subst" "0" "00006" "PAH_000081" "g.103246672A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1218}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852894A>G" "" "VUS" "" "0000907444" "0" "50" "12" "103246709" "103246709" "subst" "4.06759E-6" "00006" "PAH_000089" "g.103246709G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1219}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852931G>A" "" "VUS" "" "0000907445" "0" "50" "12" "103246715" "103246715" "subst" "0" "00006" "PAH_000092" "g.103246715G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1220}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852937G>A" "" "VUS" "" "0000907446" "0" "50" "12" "103248925" "103248925" "subst" "0" "00006" "PAH_000096" "g.103248925T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1221}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855147T>C" "" "VUS" "" "0000907447" "0" "50" "12" "103288642" "103288642" "subst" "2.0314E-5" "00006" "PAH_000127" "g.103288642C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1222}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894864C>T" "" "VUS" "" "0000907448" "0" "50" "12" "103306595" "103306595" "subst" "0" "00006" "PAH_000137" "g.103306595A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1223}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912817A>G" "" "VUS" "" "0000907449" "0" "90" "12" "103238210" "103238210" "subst" "0" "00006" "PAH_000891" "g.103238210C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1224}" "" "IVS9-1G>C" "" "Unknown" "" "" "0" "" "" "g.102844432C>G" "" "pathogenic (recessive)" "" "0000907450" "0" "50" "12" "103248941" "103248941" "subst" "0" "00006" "PAH_001169" "g.103248941G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1225}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855163G>T" "" "VUS" "" "0000907451" "0" "50" "12" "103245526" "103245526" "subst" "0" "00006" "PAH_001000" "g.103245526C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1226}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851748C>T" "" "VUS" "" "0000907452" "0" "50" "12" "103234204" "103234204" "subst" "0" "00006" "PAH_000609" "g.103234204A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1227}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840426A>C" "" "VUS" "" "0000907453" "0" "50" "12" "103260444" "103260444" "subst" "0" "00006" "PAH_001343" "g.103260444A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1228}" "" "IVS4-3T>G" "" "Unknown" "" "" "0" "" "" "g.102866666A>C" "" "VUS" "" "0000907454" "0" "50" "12" "103234180" "103234180" "subst" "0" "00006" "PAH_000601" "g.103234180T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1229}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840402T>A" "" "VUS" "" "0000907455" "0" "50" "12" "103245528" "103245528" "subst" "0" "00006" "PAH_001002" "g.103245528G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1230}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851750G>A" "" "VUS" "" "0000907456" "0" "90" "12" "103237485" "103237485" "del" "0" "00006" "PAH_000729" "g.103237485del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1231}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843707del" "" "pathogenic (recessive)" "" "0000907457" "0" "90" "12" "103306618" "103306618" "subst" "0" "00006" "PAH_001583" "g.103306618G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1232}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912840G>T" "" "pathogenic (recessive)" "" "0000907458" "0" "50" "12" "103245503" "103245503" "subst" "0" "00006" "PAH_000988" "g.103245503G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1233}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851725G>T" "" "VUS" "" "0000907459" "0" "50" "12" "103237512" "103237512" "subst" "0" "00006" "PAH_000745" "g.103237512T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1234}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843734T>C" "" "VUS" "" "0000907460" "0" "50" "12" "103248546" "103248546" "subst" "0" "00006" "PAH_000189" "g.103248546A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1235}" "" "IVS6+368T>C" "" "Unknown" "" "" "0" "" "" "g.102854768A>G" "" "VUS" "" "0000907461" "0" "50" "12" "103237873" "103237873" "subst" "0" "00006" "PAH_000187" "g.103237873G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1236}" "" "IVS10+241C>A" "" "Unknown" "" "" "0" "" "" "g.102844095G>T" "" "VUS" "" "0000907462" "0" "50" "12" "103236922" "103236922" "subst" "0" "00006" "PAH_000185" "g.103236922T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1237}" "" "IVS11+502A>T" "" "Unknown" "" "" "0" "" "" "g.102843144T>A" "" "VUS" "" "0000907463" "0" "50" "12" "103237523" "103237523" "subst" "0" "00006" "PAH_000411" "g.103237523A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1238}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843745A>T" "" "VUS" "" "0000907464" "0" "50" "12" "103306600" "103306600" "subst" "0" "00006" "PAH_001569" "g.103306600C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1239}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912822C>T" "" "VUS" "" "0000907465" 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"PAH_001344" "g.103260445G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1311}" "" "IVS4-4C>G" "" "Unknown" "" "" "0" "" "" "g.102866667G>C" "" "VUS" "" "0000907528" "0" "50" "12" "103260459" "103260459" "subst" "0.000166741" "00006" "PAH_001346" "g.103260459C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1312}" "" "IVS4-18G>A" "" "Unknown" "" "" "0" "" "" "g.102866681C>T" "" "VUS" "" "0000907529" "0" "50" "12" "103271243" "103271243" "subst" "1.21824E-5" "00006" "PAH_001369" "g.103271243G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1313}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877465G>A" "" "VUS" "" "0000907530" "0" "50" "12" "103271257" "103271257" "subst" "4.87353E-5" "00006" "PAH_001374" "g.103271257G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1314}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877479G>A" "" "VUS" "" "0000907531" "0" "50" "12" "103271261" "103271261" "subst" "2.03062E-5" "00006" "PAH_001375" "g.103271261C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1315}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877483C>T" "" "VUS" "" "0000907532" "0" "50" "12" "103271267" "103271267" "subst" "0" "00006" "PAH_001377" "g.103271267A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1316}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877489A>G" "" "VUS" "" "0000907533" "0" "50" "12" "103271282" "103271282" "subst" "0.000324897" "00006" "PAH_001380" "g.103271282A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1317}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877504A>G" "" "VUS" "" "0000907534" "0" "50" "12" "103271300" "103271300" "subst" "0" "00006" "PAH_001385" "g.103271300C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1318}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877522C>T" "" "VUS" "" "0000907535" "0" "90" "12" "103271318" "103271318" "del" "0" "00006" "PAH_001391" "g.103271318del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1319}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877540del" "" "pathogenic (recessive)" "" "0000907536" "0" "50" "12" "103271334" "103271336" "dup" "0" "00006" "PAH_001407" "g.103271334_103271336dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1320}" "" "IVS3-7_353-5dup" "" "Unknown" "" "" "0" "" "" "g.102877556_102877558dup" "" "VUS" "" "0000907537" "0" "50" "12" "103288502" "103288502" "subst" "1.62491E-5" "00006" "PAH_001420" "g.103288502C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1321}" "" "IVS3+11G>C" "" "Unknown" "" "" "0" "" "" "g.102894724C>G" "" "VUS" "" "0000907538" "0" "90" "12" "103288511" "103288511" "dup" "0" "00006" "PAH_001424" "g.103288511dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1322}" "" "IVS3+2dup" "" "Unknown" "" "" "0" "" "" "g.102894733dup" "" "pathogenic (recessive)" "" "0000907539" "0" "90" "12" "103288536" "103288536" "del" "0" "00006" "PAH_001435" "g.103288536del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1323}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894758del" "" "pathogenic (recessive)" "" "0000907540" "0" "50" "12" "103288563" "103288563" "subst" "0" "00006" "PAH_001446" "g.103288563T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1324}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894785T>C" "" "VUS" "" "0000907541" "0" "50" "12" "103288643" "103288643" "subst" "2.43752E-5" "00006" "PAH_001491" "g.103288643T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1325}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894865T>C" "" "VUS" "" "0000907542" "0" "50" "12" "103288667" "103288667" "subst" "1.21941E-5" "00006" "PAH_001505" "g.103288667T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1326}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894889T>C" "" "VUS" "" "0000907543" "0" "50" "12" "103288695" "103288696" "ins" "0" "00006" "PAH_001529" "g.103288695_103288696insTC" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1327}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894917_102894918insTC" "" "VUS" "" "0000907544" "0" "50" "12" "103288738" "103288738" "subst" "0" "00006" "PAH_001539" "g.103288738A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1328}" "" "IVS2-42T>A" "" "Unknown" "" "" "0" "" "" "g.102894960A>T" "" "VUS" "" "0000907545" "0" "90" "12" "103306571" "103306571" "del" "0" "00006" "PAH_001549" "g.103306571del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1329}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912793del" "" "pathogenic (recessive)" "" "0000907546" "0" "50" "12" "103306591" "103306591" "subst" "0" "00006" "PAH_001563" "g.103306591G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1330}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912813G>T" "" "VUS" "" "0000907547" "0" "50" "12" "103306604" "103306604" "subst" "0" "00006" "PAH_001574" "g.103306604C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1331}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912826C>A" "" "VUS" "" "0000907548" "0" "50" "12" "103306662" "103306662" "subst" "0" "00006" "PAH_001593" "g.103306662A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1332}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912884A>G" "" "VUS" "" "0000907549" "0" "50" "12" "103306666" "103306666" "subst" "0.000227505" "00006" "PAH_001597" "g.103306666T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1333}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912888T>C" "" "VUS" "" "0000907550" "0" "50" "12" "103310821" "103310821" "del" "3.65717E-5" "00006" "PAH_001613" "g.103310821del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1334}" "" "IVS1+28del" "" "Unknown" "" "" "0" "" "" "g.102917043del" "" "VUS" "" "0000907551" "0" "50" "12" "103310840" "103310840" "subst" "1.62489E-5" "00006" "PAH_001616" "g.103310840G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1335}" "" "IVS1+9C>T" "" "Unknown" "" "" "0" "" "" "g.102917062G>A" "" "VUS" "" "0000907552" "0" "90" "12" "103310848" "103310848" "subst" "0" "00006" "PAH_001620" "g.103310848C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1336}" "" "IVS1+1G>C" "" "Unknown" "" "" "0" "" "" "g.102917070C>G" "" "pathogenic (recessive)" "" "0000907553" "0" "50" "12" "103310855" "103310855" "subst" "0" "00006" "PAH_001623" "g.103310855A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1337}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917077A>G" "" "VUS" "" "0000907554" "0" "50" "12" "103310865" "103310865" "subst" "0" "00006" "PAH_001627" "g.103310865A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1338}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917087A>T" "" "VUS" "" "0000907555" "0" "50" "12" "103310867" "103310867" "subst" "8.12275E-6" "00006" "PAH_001630" "g.103310867T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1339}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917089T>C" "" "VUS" "" "0000907556" "0" "50" "12" "103310886" "103310886" "subst" "0" "00006" "PAH_001636" "g.103310886T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1340}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917108T>G" "" "VUS" "" "0000907557" "0" "50" "12" "103310973" "103310974" "del" "0" "00006" "PAH_001641" "g.103310973_103310974del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1341}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917195_102917196del" "" "VUS" "" "0000907558" "0" "50" "12" "103310981" "103310981" "subst" "0" "00006" "PAH_001642" "g.103310981G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1342}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917203G>C" "" "VUS" "" "0000907559" "0" "50" "12" "103311012" "103311012" "subst" "0" "00006" "PAH_001643" "g.103311012G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1343}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917234G>A" "" "VUS" "" "0000907560" "0" "90" "12" "103238138" "103238145" "del" "0" "00006" "PAH_000836" "g.103238138_103238145del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1344}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844360_102844367del" "" "pathogenic (recessive)" "" "0000907561" "0" "90" "12" "103288683" "103288696" "del" "0" "00006" "PAH_001522" "g.103288683_103288696del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1345}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894905_102894918del" "" "pathogenic (recessive)" "" "0000907562" "0" "50" "12" "103288659" "103288659" "subst" "0" "00006" "PAH_001496" "g.103288659G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1346}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894881G>C" "" "VUS" "" "0000907563" "0" "90" "12" "103288614" "103288614" "del" "0" "00006" "PAH_001469" "g.103288614del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1347}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894836del" "" "pathogenic (recessive)" "" "0000907564" "0" "50" "12" "103234259" "103234259" "subst" "0" "00006" "PAH_000643" "g.103234259C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1348}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840481C>A" "" "VUS" "" "0000907565" "0" "50" "12" "103288587" "103288587" "subst" "0" "00006" "PAH_001458" "g.103288587T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1349}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894809T>A" "" "VUS" "" "0000907566" "0" "50" "12" "103249028" "103249028" "subst" "0" "00006" "PAH_001226" "g.103249028A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1350}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855250A>T" "" "VUS" "" "0000907567" "0" "90" "12" "103306576" "103306577" "ins" "0" "00006" "PAH_001554" "g.103306576_103306577insTATA" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1351}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912798_102912799insTATA" "" "pathogenic (recessive)" "" "0000907568" "0" "50" "12" "103240734" "103240734" "subst" "8.13134E-6" "00006" "PAH_000154" "g.103240734A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1352}" "" "IVS8-5T>C" "" "Unknown" "" "" "0" "" "" "g.102846956A>G" "" "VUS" "" "0000907569" "0" "50" "12" "103310881" "103310881" "subst" "0" "00006" "PAH_001634" "g.103310881C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1353}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917103C>T" "" "VUS" "" "0000907570" "0" "50" "12" "103234109" "103234109" "subst" "0" "00006" "PAH_000595" "g.103234109C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1354}" "" "IVS12+69G>A" "" "Unknown" "" "" "0" "" "" "g.102840331C>T" "" "VUS" "" "0000907571" "0" "90" "12" "103310889" "103310889" "del" "0" "00006" "PAH_000192" "g.103310889del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1356}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917111del" "" "pathogenic (recessive)" "" "0000907572" "0" "90" "12" "103248994" "103248995" "ins" "0" "00006" "PAH_000194" "g.103248994_103248995insG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1357}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855216_102855217insG" "" "pathogenic (recessive)" "" "0000907573" "0" "50" "12" "103234174" "103234175" "ins" "0" "00006" "PAH_000195" "g.103234174_103234175insGTTACACCT" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1358}" "" "IVS12+5_1315+6insGTGTAACAG" "" "Unknown" "" "" "0" "" "" "g.102840396_102840397insGTTACACCT" "" "VUS" "" "0000907574" "0" "50" "12" "103271153" "103271153" "subst" "0" "00006" "PAH_001349" "g.103271153A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1360}" "" "IVS4+87T>G" "" "Unknown" "" "" "0" "" "" "g.102877375A>C" "" "VUS" "" "0000907575" "0" "50" "12" "103260377" "103260377" "subst" "0" "00006" "PAH_001305" "g.103260377C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1361}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866599C>G" "" "VUS" "" "0000907576" "0" "50" "12" "103306651" "103306651" "subst" "0" "00006" "PAH_001590" "g.103306651C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1362}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912873C>T" "" "VUS" "" "0000907577" "0" "50" "12" "103232982" "103232982" "subst" "4.06646E-6" "00006" "PAH_000585" "g.103232982G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1363}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839204G>T" "" "VUS" "" "0000907578" "0" "90" "12" "103249009" "103249031" "del" "0" "00006" "PAH_001212" "g.103249009_103249031del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1364}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855231_102855253del" "" "pathogenic (recessive)" "" "0000907579" "0" "50" "12" "103240729" "103240729" "subst" "0" "00006" "PAH_000952" "g.103240729C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1365}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846951C>A" "" "VUS" "" "0000907580" "0" "90" "12" "103310865" "103310866" "ins" "0" "00006" "PAH_001629" "g.103310865_103310866insAG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1366}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917087_102917088insAG" "" "pathogenic (recessive)" "" "0000907581" "0" "50" "12" "103232959" "103232959" "subst" "0" "00006" "PAH_000576" "g.103232959T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1368}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839181T>G" "" "VUS" "" "0000907582" "0" "50" "12" "103232968" "103232968" "subst" "4.0661E-6" "00006" "PAH_000577" "g.103232968G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1369}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839190G>A" "" "VUS" "" "0000907583" "0" "50" "12" "103232971" "103232971" "subst" "0" "00006" "PAH_000579" "g.103232971G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1370}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839193G>T" "" "VUS" "" "0000907584" "0" "50" "12" "103232980" "103232980" "subst" "0" "00006" "PAH_000583" "g.103232980A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1373}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839202A>C" "" "VUS" "" "0000907585" "0" "50" "12" "103232983" "103232983" "subst" "0" "00006" "PAH_000171" "g.103232983G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1374}" "" "" "" "Unknown" "" "" "0" "" "" "g.102839205G>T" "" "VUS" "" "0000907586" "0" "50" "12" "103233004" "103233004" "subst" "0" "00006" "PAH_000591" "g.103233004G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1375}" "" "IVS12-8C>A" "" "Unknown" "" "" "0" "" "" "g.102839226G>T" "" "VUS" "" "0000907587" "0" "50" "12" "103234015" "103234015" "del" "0" "00006" "PAH_000594" "g.103234015del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1376}" "" "IVS12+163del" "" "Unknown" "" "" "0" "" "" "g.102840237del" "" "VUS" "" "0000907588" "0" "50" "12" "103234158" "103234158" "subst" "0.000487579" "00006" "PAH_000596" "g.103234158G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1377}" "" "IVS12+20C>T" "" "Unknown" "" "" "0" "" "" "g.102840380G>A" "" "VUS" "" "0000907589" "0" "50" "12" "103234169" "103234169" "subst" "0" "00006" "PAH_000597" "g.103234169A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1378}" "" "IVS12+9T>C" "" "Unknown" "" "" "0" "" "" "g.102840391A>G" "" "VUS" "" "0000907590" "0" "50" "12" "103234194" "103234194" "subst" "4.06144E-6" "00006" "PAH_000606" "g.103234194C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1379}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840416C>T" "" "VUS" "" "0000907591" "0" "50" "12" "103234206" "103234206" "subst" "0" "00006" "PAH_000610" "g.103234206C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1380}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840428C>T" "" "VUS" "" "0000907592" "0" "50" "12" "103234223" "103234223" "subst" "4.06128E-6" "00006" "PAH_000616" "g.103234223A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1381}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840445A>G" "" "VUS" "" "0000907593" "0" "50" "12" "103234234" "103234234" "subst" "0" "00006" "PAH_000621" "g.103234234C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1382}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840456C>G" "" "VUS" "" "0000907594" "0" "50" "12" "103234236" "103234236" "subst" "0" "00006" "PAH_000622" "g.103234236T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1383}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840458T>C" "" "VUS" "" "0000907595" "0" "50" "12" "103234239" "103234239" "subst" "0" "00006" "PAH_000624" "g.103234239G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1384}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840461G>T" "" "VUS" "" "0000907596" "0" "50" "12" "103234239" "103234239" "subst" "1.2184E-5" "00006" "PAH_000625" "g.103234239G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1385}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840461G>A" "" "VUS" "" "0000907597" "0" "50" "12" "103234242" "103234242" "subst" "0" "00006" "PAH_000628" "g.103234242G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1386}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840464G>A" "" "VUS" "" "0000907598" "0" "50" "12" "103234245" "103234245" "subst" "0" "00006" "PAH_000631" "g.103234245T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1387}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840467T>G" "" "VUS" "" "0000907599" "0" "50" "12" "103234297" "103234297" "subst" "0" "00006" "PAH_000669" "g.103234297A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1389}" "" "IVS11-4T>A" "" "Unknown" "" "" "0" "" "" "g.102840519A>T" "" "VUS" "" "0000907600" "0" "50" "12" "103234301" "103234301" "subst" "4.06223E-6" "00006" "PAH_000671" "g.103234301C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1390}" "" "IVS11-8G>T" "" "Unknown" "" "" "0" "" "" "g.102840523C>A" "" "VUS" "" "0000907601" "0" "50" "12" "103234301" "103234301" "subst" "4.06223E-6" "00006" "PAH_000672" "g.103234301C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1391}" "" "IVS11-8G>C" "" "Unknown" "" "" "0" "" "" "g.102840523C>G" "" "VUS" "" "0000907602" "0" "50" "12" "103234302" "103234302" "subst" "4.06237E-6" "00006" "PAH_000673" "g.103234302A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1392}" "" "IVS11-9T>C" "" "Unknown" "" "" "0" "" "" "g.102840524A>G" "" "VUS" "" "0000907603" "0" "50" "12" "103234479" "103234479" "subst" "0" "00006" "PAH_000676" "g.103234479A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1393}" "" "IVS11-186T>C" "" "Unknown" "" "" "0" "" "" "g.102840701A>G" "" "VUS" "" "0000907604" "0" "50" "12" "103234544" "103234544" "subst" "0" "00006" "PAH_000677" "g.103234544G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1394}" "" "IVS11-251C>T" "" "Unknown" "" "" "0" "" "" "g.102840766G>A" "" "VUS" "" "0000907605" "0" "50" "12" "103237160" "103237160" "subst" "0" "00006" "PAH_000678" "g.103237160C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1395}" "" "IVS11+264G>A" "" "Unknown" "" "" "0" "" "" "g.102843382C>T" "" "VUS" "" "0000907606" "0" "90" "12" "103237423" "103240730" "del" "0" "00006" "PAH_000563" "g.(103234294_103237423)_(103240730_103245464)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:766}, {BIOPKU:1396}" "" "del ex9_11, g.~6.7kbdel" "allelic phenotype value 0, variant associated with classic PKU" "Unknown" "" "" "0" "" "" "g.(102840516_102843645)_(102846952_102851686)del" "" "pathogenic (recessive)" "" "0000907607" "0" "90" "12" "103237431" "103237431" "subst" "0" "00006" "PAH_000693" "g.103237431T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1397}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843653T>A" "" "pathogenic (recessive)" "" "0000907608" "0" "50" "12" "103237435" "103237435" "subst" "8.12764E-6" "00006" "PAH_000694" "g.103237435C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1398}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843657C>T" "" "VUS" "" "0000907609" "0" "50" "12" "103237438" "103237438" "subst" "2.03198E-5" "00006" "PAH_000695" "g.103237438G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1399}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843660G>T" "" "VUS" "" "0000907610" "0" "50" "12" "103237453" "103237453" "subst" "0" "00006" "PAH_000703" "g.103237453C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1400}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843675C>T" "" "VUS" "" "0000907611" "0" "50" "12" "103237456" "103237456" "subst" "0" "00006" "PAH_000707" "g.103237456T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1401}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843678T>C" "" "VUS" "" "0000907612" "0" "50" "12" "103237465" "103237465" "subst" "0" "00006" "PAH_000714" "g.103237465A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1402}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843687A>G" "" "VUS" "" "0000907613" "0" "50" "12" "103237468" "103237468" "subst" "0.000130067" "00006" "PAH_000718" "g.103237468G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1404}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843690G>T" "" "VUS" "" "0000907614" "0" "50" "12" "103237480" "103237480" "subst" "0" "00006" "PAH_000727" "g.103237480C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1405}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843702C>T" "" "VUS" "" "0000907615" "0" "50" "12" "103237489" "103237489" "subst" "0" "00006" "PAH_000732" "g.103237489A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1406}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843711A>C" "" "VUS" "" "0000907616" "0" "50" "12" "103237489" "103237489" "subst" "0" "00006" "PAH_000733" "g.103237489A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1407}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843711A>G" "" "VUS" "" "0000907617" "0" "90" "12" "103237552" "103237553" "ins" "0" "00006" "PAH_000786" "g.103237552_103237553insAGGGGAGAAGCTTTGGCTTCTCTGATAAG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1408}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843774_102843775insAGGGGAGAAGCTTTGGCTTCTCTGATAAG" "" "pathogenic (recessive)" "" "0000907618" "0" "50" "12" "103237525" "103237525" "subst" "2.03272E-5" "00006" "PAH_000756" "g.103237525G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1409}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843747G>T" "" "VUS" "" "0000907619" "0" "50" "12" "103237527" "103237527" "subst" "0" "00006" "PAH_000760" "g.103237527G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1410}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843749G>A" "" "VUS" "" "0000907620" "0" "50" "12" "103237528" "103237528" "subst" "8.13068E-6" "00006" "PAH_000763" "g.103237528G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1411}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843750G>C" "" "VUS" "" "0000907621" "0" "50" "12" "103237528" "103237528" "subst" "0" "00006" "PAH_000764" "g.103237528G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1412}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843750G>A" "" "VUS" "" "0000907622" "0" "50" "12" "103237530" "103237530" "subst" "4.06544E-5" "00006" "PAH_000765" "g.103237530G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1413}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843752G>A" "" "VUS" "" "0000907623" "0" "50" "12" "103237531" "103237531" "subst" "4.06537E-6" "00006" "PAH_000766" "g.103237531A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1414}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843753A>C" "" "VUS" "" "0000907624" "0" "50" "12" "103237534" "103237534" "subst" "0" "00006" "PAH_000770" "g.103237534C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1415}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843756C>T" "" "VUS" "" "0000907625" "0" "50" "12" "103237534" "103237534" "subst" "0" "00006" "PAH_000771" "g.103237534C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1416}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843756C>G" "" "VUS" "" "0000907626" "0" "50" "12" "103237540" "103237540" "subst" "0" "00006" "PAH_000776" "g.103237540C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1417}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843762C>T" "" "VUS" "" "0000907627" "0" "50" "12" "103237552" "103237552" "subst" "4.06798E-6" "00006" "PAH_000785" "g.103237552G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1418}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843774G>A" "" "VUS" "" "0000907628" "0" "50" "12" "103237556" "103237557" "ins" "0" "00006" "PAH_000790" "g.103237556_103237557insN[6]" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1419}" "" "c.1066_1067ins6" "" "Unknown" "" "" "0" "" "" "g.102843778_102843779insN[6]" "" "VUS" "" "0000907629" "0" "50" "12" "103237561" "103237561" "subst" "8.13974E-6" "00006" "PAH_000797" "g.103237561T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1421}" "" "IVS10-4A>G" "" "Unknown" "" "" "0" "" "" "g.102843783T>C" "" "VUS" "" "0000907630" "0" "50" "12" "103237562" "103237562" "subst" "0" "00006" "PAH_000798" "g.103237562A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1422}" "" "IVS10-5T>C" "" "Unknown" "" "" "0" "" "" "g.102843784A>G" "" "VUS" "" "0000907631" "0" "50" "12" "103237564" "103237564" "subst" "0" "00006" "PAH_000800" "g.103237564G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1423}" "" "IVS10-7C>T" "" "Unknown" "" "" "0" "" "" "g.102843786G>A" "" "VUS" "" "0000907632" "0" "50" "12" "103237793" "103237793" "subst" "0" "00006" "PAH_000806" "g.103237793G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1424}" "" "IVS10-236C>T" "" "Unknown" "" "" "0" "" "" "g.102844015G>A" "" "VUS" "" "0000907633" "0" "50" "12" "103237909" "103237909" "subst" "0" "00006" "PAH_000807" "g.103237909T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1425}" "" "IVS10+205A>T" "" "Unknown" "" "" "0" "" "" "g.102844131T>A" "" "VUS" "" "0000907634" "0" "50" "12" "103237958" "103237958" "subst" "0" "00006" "PAH_000808" "g.103237958A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1426}" "" "IVS10+156T>G" "" "Unknown" "" "" "0" "" "" "g.102844180A>C" "" "VUS" "" "0000907635" "0" "50" "12" "103237959" "103237959" "subst" "0" "00006" "PAH_000809" "g.103237959A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1427}" "" "IVS10+155T>C" "" "Unknown" "" "" "0" "" "" "g.102844181A>G" "" "VUS" "" "0000907636" "0" "50" "12" "103238094" "103238094" "subst" "4.07352E-6" "00006" "PAH_000812" "g.103238094G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1428}" "" "IVS10+20C>T" "" "Unknown" "" "" "0" "" "" "g.102844316G>A" "" "VUS" "" "0000907637" "0" "50" "12" "103238094" "103238094" "subst" "2.03676E-5" "00006" "PAH_000813" "g.103238094G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1429}" "" "IVS10+20C>G" "" "Unknown" "" "" "0" "" "" "g.102844316G>C" "" "VUS" "" "0000907638" "0" "50" "12" "103238106" "103238106" "subst" "0" "00006" "PAH_000815" "g.103238106G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1430}" "" "IVS10+8C>T" "" "Unknown" "" "" "0" "" "" "g.102844328G>A" "" "VUS" "" "0000907639" "0" "50" "12" "103238117" "103238117" "subst" "0" "00006" "PAH_000821" "g.103238117T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1431}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844339T>C" "" "VUS" "" "0000907640" "0" "50" "12" "103238120" "103238120" "subst" "0" "00006" "PAH_000823" "g.103238120T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1432}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844342T>C" "" "VUS" "" "0000907641" "0" "50" "12" "103238129" "103238129" "subst" "0" "00006" "PAH_000829" "g.103238129G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1433}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844351G>C" "" "VUS" "" "0000907642" "0" "50" "12" "103238138" "103238138" "subst" "8.12942E-6" "00006" "PAH_000835" "g.103238138G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1434}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844360G>A" "" "VUS" "" "0000907643" "0" "90" "12" "103238150" "103238150" "subst" "0" "00006" "PAH_000844" "g.103238150A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1435}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844372A>C" "" "pathogenic (recessive)" "" "0000907644" "0" "50" "12" "103238153" "103238153" "subst" "4.06468E-6" "00006" "PAH_000848" "g.103238153T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1436}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844375T>C" "" "VUS" "" "0000907645" "0" "50" "12" "103238166" "103238166" "subst" "4.06573E-6" "00006" "PAH_000860" "g.103238166T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1437}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844388T>G" "" "VUS" "" "0000907646" "0" "50" "12" "103238180" "103238180" "subst" "4.06759E-6" "00006" "PAH_000871" "g.103238180G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1438}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844402G>A" "" "VUS" "" "0000907647" "0" "50" "12" "103238180" "103238180" "subst" "4.06759E-6" "00006" "PAH_000872" "g.103238180G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1439}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844402G>C" "" "VUS" "" "0000907648" "0" "50" "12" "103238216" "103238216" "subst" "0" "00006" "PAH_000898" "g.103238216T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1440}" "" "IVS9-7A>T" "" "Unknown" "" "" "0" "" "" "g.102844438T>A" "" "VUS" "" "0000907649" "0" "50" "12" "103238404" "103238404" "subst" "0" "00006" "PAH_000900" "g.103238404C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1441}" "" "IVS9-195G>A" "" "Unknown" "" "" "0" "" "" "g.102844626C>T" "" "VUS" "" "0000907650" "0" "50" "12" "103240452" 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"12" "103246736" "103246736" "subst" "4.08523E-6" "00006" "PAH_001132" "g.103246736G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1498}" "" "IVS6-8C>T" "" "Unknown" "" "" "0" "" "" "g.102852958G>A" "" "VUS" "" "0000907705" "0" "50" "12" "103246746" "103246746" "subst" "0" "00006" "PAH_001133" "g.103246746A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1499}" "" "IVS6-18T>C" "" "Unknown" "" "" "0" "" "" "g.102852968A>G" "" "VUS" "" "0000907706" "0" "50" "12" "103248269" "103249069" "del" "0" "00006" "PAH_001135" "g.103248269_103249069del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1500}" "" "IVS6+647del" "" "Unknown" "" "" "0" "" "" "g.102854491_102855291del" "" "VUS" "" "0000907707" "0" "50" "12" "103248858" "103248858" "subst" "0" "00006" "PAH_001137" "g.103248858C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1502}" "" "IVS6+56G>A" "" "Unknown" "" "" "0" "" "" "g.102855080C>T" "" "VUS" "" "0000907708" "0" "50" "12" "103248906" "103248906" "subst" "0" "00006" "PAH_001141" "g.103248906G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1503}" "" "IVS6+8C>A" "" "Unknown" "" "" "0" "" "" "g.102855128G>T" "" "VUS" "" "0000907709" "0" "50" "12" "103248906" "103248906" "subst" "0" "00006" "PAH_001142" "g.103248906G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1504}" "" "IVS6+8C>T" "" "Unknown" "" "" "0" "" "" "g.102855128G>A" "" "VUS" "" "0000907710" "0" "50" "12" "103248917" "103248917" "subst" "0" "00006" "PAH_001149" "g.103248917G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1505}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855139G>T" "" "VUS" "" "0000907711" "0" "50" "12" "103248918" "103248918" "subst" "0" "00006" "PAH_001150" "g.103248918C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1506}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855140C>T" "" "VUS" "" "0000907712" "0" "90" "12" "103248933" "103249131" "delins" "0" "00006" "PAH_001160" "g.103248933_103249131delinsTGG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1508}" "" "IVS5-21_687delinsCCA" "" "Unknown" "" "" "0" "" "" "g.102855155_102855353delinsTGG" "" "pathogenic (recessive)" "" "0000907713" "0" "50" "12" "103248933" "103248933" "subst" "1.21906E-5" "00006" "PAH_001159" "g.103248933G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1509}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855155G>A" "" "VUS" "" "0000907714" "0" "90" "12" "103248934" "103248943" "del" "0" "00006" "PAH_001163" "g.103248934_103248943del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1510}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855156_102855165del" "" "pathogenic (recessive)" "" "0000907715" "0" "50" "12" "103248945" "103248945" "subst" "0" "00006" "PAH_001171" "g.103248945G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1511}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855167G>A" "" "VUS" "" "0000907716" "0" "50" "12" "103248951" "103248951" "subst" "0" "00006" "PAH_001178" "g.103248951G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1512}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855173G>A" "" "VUS" "" "0000907717" "0" "50" "12" "103248954" "103248954" "subst" "0" "00006" "PAH_001181" "g.103248954A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1513}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855176A>C" "" "VUS" "" "0000907718" "0" "50" "12" "103248959" "103248959" "subst" "0" "00006" "PAH_001185" "g.103248959C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1514}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855181C>T" "" "VUS" "" "0000907719" "0" "50" "12" "103248966" "103248966" "subst" "0" "00006" "PAH_001188" "g.103248966G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1515}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855188G>C" "" "VUS" "" "0000907720" "0" "50" "12" "103248966" "103248966" "subst" "0" "00006" "PAH_001189" "g.103248966G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1516}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855188G>A" "" "VUS" "" "0000907721" "0" "50" "12" "103248969" "103248969" "subst" "0" "00006" "PAH_001191" "g.103248969A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1517}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855191A>G" "" "VUS" "" "0000907722" "0" "50" "12" "103248978" "103248978" "subst" "1.62557E-5" "00006" "PAH_001193" "g.103248978T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1518}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855200T>C" "" "VUS" "" "0000907723" "0" "50" "12" "103248987" "103248987" "subst" "8.12698E-6" "00006" "PAH_001197" "g.103248987T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1519}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855209T>G" "" "VUS" "" "0000907724" "0" "50" "12" "103248988" "103248988" "subst" "1.21906E-5" "00006" "PAH_001199" "g.103248988G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1520}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855210G>T" "" "VUS" "" "0000907725" "0" "50" "12" "103249005" "103249005" "subst" "4.06372E-6" "00006" "PAH_001206" "g.103249005C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1521}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855227C>G" "" "VUS" "" "0000907726" "0" "50" "12" "103249006" "103249006" "subst" "0" "00006" "PAH_001208" "g.103249006T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1522}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855228T>C" "" "VUS" "" "0000907727" "0" "90" "12" "103249010" "103249010" "dup" "0" "00006" "PAH_001213" "g.103249010dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1524}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855232dup" "" "pathogenic (recessive)" "" "0000907728" "0" "90" "12" "103249042" "103249048" "del" "0" "00006" "PAH_001236" "g.103249042_103249048del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1525}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855264_102855270del" "" "pathogenic (recessive)" "" "0000907729" "0" "50" "12" "103249050" "103249050" "subst" "0" "00006" "PAH_001239" "g.103249050C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1526}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855272C>T" "" "VUS" "" "0000907730" "0" "50" "12" "103249053" "103249053" "subst" "4.06362E-6" "00006" "PAH_001242" "g.103249053T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1527}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855275T>C" "" "VUS" "" "0000907731" "0" "50" "12" "103249058" "103249058" "subst" "0" "00006" "PAH_001247" "g.103249058C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1528}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855280C>T" "" "VUS" "" "0000907732" "0" "90" "12" "103249073" "103249073" "subst" "0" "00006" "PAH_001257" "g.103249073C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1529}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855295C>A" "" "pathogenic (recessive)" "" "0000907733" "0" "50" "12" "103249107" "103249107" "subst" "8.13822E-6" "00006" "PAH_001276" "g.103249107C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1530}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855329C>A" "" "VUS" "" "0000907734" "0" "50" "12" "103249115" "103249115" "subst" "0" "00006" "PAH_001285" "g.103249115A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1531}" "" "IVS5-5T>A" "" "Unknown" "" "" "0" "" "" "g.102855337A>T" "" "VUS" "" "0000907735" "0" "50" "12" "103249120" "103249120" "subst" "4.07325E-6" "00006" "PAH_001288" "g.103249120A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1532}" "" "IVS5-10T>C" "" "Unknown" "" "" "0" "" "" "g.102855342A>G" "" "VUS" "" "0000907736" "0" "50" "12" "103249126" "103249126" "subst" "0" "00006" "PAH_001289" "g.103249126A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1533}" "" "IVS5-16T>G" "" "Unknown" "" "" "0" "" "" "g.102855348A>C" "" "VUS" "" "0000907737" "0" "50" "12" "103249327" "103249327" "subst" "0" "00006" "PAH_001291" "g.103249327G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1534}" "" "IVS5-217C>T" "" "Unknown" "" "" "0" "" "" "g.102855549G>A" "" "VUS" "" "0000907738" "0" "50" "12" "103249364" "103249364" "subst" "0" "00006" "PAH_001292" "g.103249364G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1535}" "" "IVS5-254C>T" "" "Unknown" "" "" "0" "" "" "g.102855586G>A" "" "VUS" "" "0000907739" "0" "50" "12" "103249413" "103249413" "subst" "0" "00006" "PAH_001293" "g.103249413G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1536}" "" "IVS5-303C>T" "" "Unknown" "" "" "0" "" "" "g.102855635G>A" "" "VUS" "" "0000907740" "0" "90" "12" "103259491" "103264844" "del" "0" "00006" "PAH_001294" "g.103259491_103264844del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1537}" "" "" "" "Unknown" "" "" "0" "" "" "g.102865713_102871066del" "" "pathogenic (recessive)" "" "0000907741" "0" "90" "12" "103260150" "103261820" "del" "0" "00006" "PAH_001295" "g.103260150_103261820del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1538}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866372_102868042del" "" "pathogenic (recessive)" "" "0000907742" "0" "50" "12" "103260234" "103260234" "subst" "0" "00006" "PAH_001296" "g.103260234C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1539}" "" "IVS5+140G>A" "" "Unknown" "" "" "0" "" "" "g.102866456C>T" "" "VUS" "" "0000907743" "0" "50" "12" "103260356" "103260356" "subst" "8.12632E-6" "00006" "PAH_001299" "g.103260356C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1540}" "" "IVS5+18G>T" "" "Unknown" "" "" "0" "" "" "g.102866578C>A" "" "VUS" "" "0000907744" "0" "50" "12" "103260365" "103260365" "subst" "8.12552E-6" "00006" "PAH_001300" "g.103260365C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1541}" "" "IVS5+9G>A" "" "Unknown" "" "" "0" "" "" "g.102866587C>T" "" "VUS" "" "0000907745" "0" "50" "12" "103260388" "103260388" "subst" "0" "00006" "PAH_001309" "g.103260388G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1542}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866610G>A" "" "VUS" "" "0000907746" "0" "50" "12" "103260394" "103260394" "subst" "4.06289E-6" "00006" "PAH_001312" "g.103260394G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1543}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866616G>A" "" "VUS" "" "0000907747" "0" "50" "12" "103260409" "103260409" "subst" "0" "00006" "PAH_001316" "g.103260409C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1544}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866631C>T" "" "VUS" "" "0000907748" "0" "50" "12" "103260416" "103260416" "subst" "0" "00006" "PAH_001322" "g.103260416G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1545}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866638G>C" "" "VUS" "" "0000907749" "0" "50" "12" "103260416" "103260416" "subst" "0" "00006" "PAH_001323" "g.103260416G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1546}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866638G>A" "" "VUS" "" "0000907750" "0" "50" "12" "103260421" "103260421" "subst" "4.06329E-6" "00006" "PAH_001326" "g.103260421G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1547}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866643G>A" "" "VUS" "" "0000907751" "0" "50" "12" "103260433" "103260433" "subst" "8.12843E-6" "00006" "PAH_001336" "g.103260433T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1548}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866655T>C" "" "VUS" "" "0000907752" "0" "50" "12" "103260436" "103260436" "subst" "4.06385E-6" "00006" "PAH_001338" "g.103260436A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1549}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866658A>G" "" "VUS" "" "0000907753" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_001342" "g.103260442C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1550}" "" "IVS4-1G>C" "" "Unknown" "" "" "0" "" "" "g.102866664C>G" "" "pathogenic (recessive)" "" "0000907754" "0" "50" "12" "103260608" "103260608" "subst" "0" "00006" "PAH_001347" "g.103260608T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1551}" "" "IVS4-167A>G" "" "Unknown" "" "" "0" "" "" "g.102866830T>C" "" "VUS" "" "0000907755" "0" "50" "12" "103260634" "103260634" "subst" "0" "00006" "PAH_001348" "g.103260634T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1552}" "" "IVS4-193A>G" "" "Unknown" "" "" "0" "" "" "g.102866856T>C" "" "VUS" "" "0000907756" "0" "50" "12" "103271220" "103271220" "subst" "0.000422332" "00006" "PAH_001350" "g.103271220C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1553}" "" "IVS4+20G>A" "" "Unknown" "" "" "0" "" "" "g.102877442C>T" "" "VUS" "" "0000907757" "0" "50" "12" "103271225" "103271225" "subst" "0.000121825" "00006" "PAH_001351" "g.103271225G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1554}" "" "IVS4+15C>T" "" "Unknown" "" "" "0" "" "" "g.102877447G>A" "" "VUS" "" "0000907758" "0" "50" "12" "103271228" "103271228" "subst" "4.06081E-6" "00006" "PAH_001352" "g.103271228C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1555}" "" "IVS4+12G>A" "" "Unknown" "" "" "0" "" "" "g.102877450C>T" "" "VUS" "" "0000907759" "0" "50" "12" "103271231" "103271231" "subst" "2.03039E-5" "00006" "PAH_001353" "g.103271231T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1556}" "" "IVS4+9A>G" "" "Unknown" "" "" "0" "" "" "g.102877453T>C" "" "VUS" "" "0000907760" "0" "50" "12" "103271232" "103271232" "subst" "0" "00006" "PAH_001354" "g.103271232G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1557}" "" "IVS4+8C>T" "" "Unknown" "" "" "0" "" "" "g.102877454G>A" "" "VUS" "" "0000907761" "0" "50" "12" "103271233" "103271233" "subst" "2.43647E-5" "00006" "PAH_001355" "g.103271233G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1558}" "" "IVS4+7C>A" "" "Unknown" "" "" "0" "" "" "g.102877455G>T" "" "VUS" "" "0000907762" "0" "50" "12" "103271246" "103271246" "subst" "4.06081E-6" "00006" "PAH_001371" "g.103271246G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1559}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877468G>T" "" "VUS" "" "0000907763" "0" "50" "12" "103271261" "103271261" "subst" "0" "00006" "PAH_001376" "g.103271261C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1560}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877483C>A" "" "VUS" "" "0000907764" "0" "50" "12" "103271289" "103271289" "subst" "0" "00006" "PAH_001382" "g.103271289A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1561}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877511A>G" "" "VUS" "" "0000907765" "0" "50" "12" "103271306" "103271306" "subst" "0" "00006" "PAH_001388" "g.103271306A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1562}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877528A>G" "" "VUS" "" "0000907766" "0" "50" "12" "103271324" "103271324" "subst" "0" "00006" "PAH_001397" "g.103271324G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1563}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877546G>A" "" "VUS" "" "0000907767" "0" "90" "12" "103271326" "103271326" "del" "0" "00006" "PAH_001399" "g.103271326del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1564}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877548del" "" "pathogenic (recessive)" "" "0000907768" "0" "50" "12" "103271332" "103271332" "subst" "0" "00006" "PAH_001405" "g.103271332A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1565}" "" "IVS3-4T>G" "" "Unknown" "" "" "0" "" "" "g.102877554A>C" "" "VUS" "" "0000907769" "0" "50" "12" "103271335" "103271335" "subst" "0" "00006" "PAH_001408" "g.103271335C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1566}" "" "IVS3-7G>A" "" "Unknown" "" "" "0" "" "" "g.102877557C>T" "" "VUS" "" "0000907770" "0" "50" "12" "103271335" "103271335" "subst" "0" "00006" "PAH_001409" "g.103271335C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1567}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877557C>A" "" "VUS" "" "0000907771" "0" "50" "12" "103271336" "103271336" "subst" "4.06379E-6" "00006" "PAH_001410" "g.103271336A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1568}" "" "IVS3-8T>C" "" "Unknown" "" "" "0" "" "" "g.102877558A>G" "" "VUS" "" "0000907772" "0" "50" "12" "103271337" "103271337" "subst" "8.1283E-6" "00006" "PAH_001411" "g.103271337C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1569}" "" "IVS3-9G>T" "" "Unknown" "" "" "0" "" "" "g.102877559C>A" "" "VUS" "" "0000907773" "0" "50" "12" "103271466" "103271466" "subst" "0" "00006" "PAH_001413" "g.103271466C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1570}, {BIOPKU:1571}" "" "IVS3-138G>A" "" "Unknown" "" "" "0" "" "" "g.102877688C>T" "" "VUS" "" "0000907774" "0" "50" "12" "103271500" "103271500" "subst" "0" "00006" "PAH_001414" "g.103271500C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1572}" "" 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"g.103288556A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1581}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894778A>C" "" "VUS" "" "0000907784" "0" "50" "12" "103288570" "103288570" "subst" "0" "00006" "PAH_001448" "g.103288570T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1582}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894792T>C" "" "VUS" "" "0000907785" "0" "50" "12" "103288574" "103288574" "subst" "0" "00006" "PAH_001450" "g.103288574G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1583}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894796G>A" "" "VUS" "" "0000907786" "0" "50" "12" "103288604" "103288604" "subst" "0" "00006" "PAH_001465" "g.103288604G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1584}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894826G>A" "" "VUS" "" "0000907787" "0" "50" "12" "103288618" "103288618" "subst" "0" "00006" "PAH_001470" "g.103288618A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1585}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894840A>G" "" "VUS" "" "0000907788" "0" "90" "12" "103288630" "103288630" "dup" "0" "00006" "PAH_001474" "g.103288630dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1586}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894852dup" "" "pathogenic (recessive)" "" "0000907789" "0" "50" "12" "103288631" "103288631" "subst" "0" "00006" "PAH_001475" "g.103288631T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1587}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894853T>A" "" "VUS" "" "0000907790" "0" "50" "12" "103288634" "103288634" "subst" "8.12414E-6" "00006" "PAH_001482" "g.103288634A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1588}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894856A>G" "" "VUS" "" "0000907791" "0" "90" "12" "103288655" "103288655" "del" "0" "00006" "PAH_001494" "g.103288655del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1589}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894877del" "" "pathogenic (recessive)" "" "0000907792" "0" "50" "12" "103288664" "103288664" "subst" "4.06418E-6" "00006" "PAH_001501" "g.103288664A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1590}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894886A>C" "" "VUS" "" "0000907793" "0" "50" "12" "103288665" "103288665" "subst" "0" "00006" "PAH_001503" "g.103288665G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1591}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894887G>C" "" "VUS" "" "0000907794" "0" "50" "12" "103288699" "103288699" "subst" "0" "00006" "PAH_001533" "g.103288699A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1592}" "" "IVS2-3T>G" "" "Unknown" "" "" "0" "" "" "g.102894921A>C" "" "VUS" "" "0000907795" "0" "50" "12" "103288701" "103288701" "subst" "0" "00006" "PAH_001534" "g.103288701A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1593}" "" "IVS2-5T>A" "" "Unknown" "" "" "0" "" "" "g.102894923A>T" "" "VUS" "" "0000907796" "0" "50" "12" "103288703" "103288703" "subst" "0" "00006" "PAH_001535" "g.103288703G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1594}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894925G>C" "" "VUS" "" "0000907797" "0" "50" "12" "103288705" "103288705" "subst" "1.63674E-5" "00006" "PAH_001536" "g.103288705G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1595}" "" "IVS2-9C>G" "" "Unknown" "" "" "0" "" "" "g.102894927G>C" "" "VUS" "" "0000907798" "0" "50" "12" "103288706" "103288706" "subst" "4.09021E-6" "00006" "PAH_001537" "g.103288706A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1596}" "" "IVS2-10T>C" "" "Unknown" "" "" "0" "" "" "g.102894928A>G" "" "VUS" "" "0000907799" "0" "50" "12" "103288706" "103288706" "subst" "0" "00006" "PAH_001538" "g.103288706A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1597}" "" "IVS2-10T>G" "" "Unknown" "" "" "0" "" "" "g.102894928A>C" "" "VUS" "" "0000907800" "0" "50" "12" "103306302" "103306302" "subst" "0" "00006" "PAH_001540" "g.103306302T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1598}" "" "IVS2+267A>T" "" "Unknown" "" "" "0" "" "" "g.102912524T>A" "" "VUS" "" "0000907801" "0" "90" "12" "103306567" "103306567" "subst" "0" "00006" "PAH_001543" "g.103306567A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1599}" "" "IVS2+2T>A" "" "Unknown" "" "" "0" "" "" "g.102912789A>T" "" "pathogenic (recessive)" "" "0000907802" "0" "50" "12" "103306572" "103306572" "subst" "0" "00006" "PAH_001550" "g.103306572A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1600}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912794A>G" "" "VUS" "" "0000907803" "0" "50" "12" "103306578" "103306578" "subst" "0" "00006" "PAH_001555" "g.103306578G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1601}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912800G>A" "" "VUS" "" "0000907804" "0" "50" "12" "103306580" "103306580" "subst" "4.06256E-6" "00006" "PAH_001557" "g.103306580G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1602}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912802G>T" "" "VUS" "" "0000907805" "0" "50" "12" "103306584" "103306584" "subst" "0" "00006" "PAH_001560" "g.103306584T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1603}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912806T>A" "" "VUS" "" "0000907806" "0" "50" "12" "103306590" "103306590" "subst" "0" "00006" "PAH_001562" "g.103306590G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1604}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912812G>C" "" "VUS" "" "0000907807" "0" "50" "12" "103306591" "103306591" "subst" "0" "00006" "PAH_001564" "g.103306591G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1605}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912813G>A" "" "VUS" "" "0000907808" "0" "50" "12" "103306602" "103306602" "subst" "0" "00006" "PAH_001572" "g.103306602A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1606}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912824A>G" "" "VUS" "" "0000907809" "0" "50" "12" "103306602" "103306602" "subst" "8.12401E-6" "00006" "PAH_001573" "g.103306602A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1607}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912824A>C" "" "VUS" "" "0000907810" "0" "90" "12" "103306610" "103306610" "del" "0" "00006" "PAH_001576" "g.103306610del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1608}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912832del" "" "pathogenic (recessive)" "" "0000907811" "0" "50" "12" "103306612" "103306612" "subst" "4.06207E-6" "00006" "PAH_001580" "g.103306612T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1609}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912834T>C" "" "VUS" "" "0000907812" "0" "50" "12" "103306656" "103306656" "subst" "0" "00006" "PAH_001592" "g.103306656G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1611}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912878G>A" "" "VUS" "" "0000907813" "0" "50" "12" "103306663" "103306663" "subst" "4.0625E-6" "00006" "PAH_001595" "g.103306663A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1612}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912885A>G" "" "VUS" "" "0000907814" "0" "50" "12" "103306665" "103306665" "subst" "0" "00006" "PAH_001596" "g.103306665A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1613}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912887A>G" "" "VUS" "" "0000907815" "0" "50" "12" "103306671" "103306671" "subst" "0" "00006" "PAH_001599" "g.103306671T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1614}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912893T>G" "" "VUS" "" "0000907816" "0" "50" "12" "103306674" "103306674" "subst" "5.28223E-5" "00006" "PAH_001601" "g.103306674T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1615}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912896T>G" "" "VUS" "" "0000907817" "0" "50" "12" "103306682" "103306682" "subst" "0" "00006" "PAH_001604" "g.103306682G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1616}" "" "IVS1-6C>T" "" "Unknown" "" "" "0" "" "" "g.102912904G>A" "" "VUS" "" "0000907818" "0" "50" "12" "103306683" "103306683" "subst" "8.12803E-6" "00006" "PAH_001605" "g.103306683G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1617}" "" "IVS1-7C>T" "" "Unknown" "" "" "0" "" "" "g.102912905G>A" "" "VUS" "" "0000907819" "0" "50" "12" "103306685" "103306685" "subst" "0" "00006" "PAH_001606" "g.103306685T>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1618}" "" "IVS1-9A>T" "" "Unknown" "" "" "0" "" "" "g.102912907T>A" "" "VUS" "" "0000907820" "0" "50" "12" "103307021" "103307021" "subst" "0" "00006" "PAH_001608" "g.103307021A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1619}" "" "IVS1-345T>C" "" "Unknown" "" "" "0" "" "" "g.102913243A>G" "" "VUS" "" "0000907821" "0" "50" "12" "103310550" "103310550" "subst" "0" "00006" "PAH_001609" "g.103310550G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1620}" "" "IVS1+299C>G" "" "Unknown" "" "" "0" "" "" "g.102916772G>C" "" "VUS" "" "0000907822" "0" "50" "12" "103310715" "103310715" "subst" "0" "00006" "PAH_001610" "g.103310715T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1621}" "" "IVS1+134A>G" "" "Unknown" "" "" "0" "" "" "g.102916937T>C" "" "VUS" "" "0000907823" "0" "50" "12" "103310787" "103310787" "subst" "0" "00006" "PAH_001611" "g.103310787G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1622}" "" "IVS1+62C>G" "" "Unknown" "" "" "0" "" "" "g.102917009G>C" "" "VUS" "" "0000907824" "0" "50" "12" "103310839" "103310839" "subst" "0" "00006" "PAH_001614" "g.103310839C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1623}" "" "IVS1+10G>C" "" "Unknown" "" "" "0" "" "" "g.102917061C>G" "" "VUS" "" "0000907825" "0" "50" "12" "103310839" "103310839" "subst" "0" "00006" "PAH_001615" "g.103310839C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1624}" "" "IVS1+10G>A" "" "Unknown" "" "" "0" "" "" "g.102917061C>T" "" "VUS" "" "0000907826" "0" "90" "12" "103310873" "103310873" "del" "0" "00006" "PAH_001631" "g.103310873del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1625}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917095del" "" "pathogenic (recessive)" "" "0000907827" "0" "50" "12" "103310888" "103310888" "subst" "0" "00006" "PAH_001637" "g.103310888T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1626}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917110T>C" "" "VUS" "" "0000907828" "0" "50" "12" "103310897" "103310897" "subst" "1.21834E-5" "00006" "PAH_001639" "g.103310897C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1627}" "" "" "" "Unknown" "" "" "0" "" "" "g.102917119C>T" "" "VUS" "" "0000907829" "0" "90" "12" "103310906" "103310906" "subst" "0" "00006" "PAH_000249" "g.103310906C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1628}" "" "(Met1Ile)" "" "Unknown" "" "" "0" "" "" "g.102917128C>G" "" "pathogenic (recessive)" "" "0000907830" "0" "50" "12" "103288642" "103288650" "del" "0" "00006" "PAH_001490" "g.103288642_103288650del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1629}" "" "c.215_223delTAAAGAAAG" "" "Unknown" "" "" "0" "" "" "g.102894864_102894872del" "" "VUS" "" "0000907831" "0" "90" "12" "103271239" "103271329" "del" "0" "00006" "PAH_001366" "g.(103260442_103271239)_(103271329_103288512)del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1630}" "" "del ex4-8 c.353-?_912+?del" "" "Unknown" "" "" "0" "" "" "g.(102866664_102877461)_(102877551_102894734)del" "" "pathogenic (recessive)" "" "0000907832" "0" "50" "12" "103248285" "103248285" "subst" "0" "00006" "PAH_001136" "g.103248285T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1631}" "" "IVS6+629A>C" "" "Unknown" "" "" "0" "" "" "g.102854507T>G" "" "VUS" "" "0000907833" "0" "50" "12" "103245460" "103245460" "subst" "4.07007E-6" "00006" "PAH_000960" "g.103245460C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1633}" "" "IVS8+5G>T" "" "Unknown" "" "" "0" "" "" "g.102851682C>A" "" "VUS" "" "0000907834" "0" "50" "12" "103260432" "103260432" "subst" "0" "00006" "PAH_001335" "g.103260432C>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1634}" "" "" "" "Unknown" "" "" "0" "" "" "g.102866654C>T" "" "VUS" "" "0000907835" "0" "50" "12" "103306622" "103306622" "subst" "0" "00006" "PAH_001584" "g.103306622A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1635}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912844A>G" "" "VUS" "" "0000907836" "0" "50" "12" "103288593" "103288593" "subst" "0" "00006" "PAH_001461" "g.103288593A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1636}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894815A>G" "" "VUS" "" "0000907837" "0" "50" "12" "103249051" "103249051" "subst" "0" "00006" "PAH_001240" "g.103249051A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1637}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855273A>T" "" "VUS" "" "0000907838" "0" "50" "12" "103238201" "103238201" "subst" "0" "00006" "PAH_000885" "g.103238201C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1638}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844423C>G" "" "VUS" "" "0000907839" "0" "50" "12" "103237548" "103237548" "subst" "0" "00006" "PAH_000780" "g.103237548A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1639}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843770A>G" "" "VUS" "" "0000907840" "0" "50" "12" "103249037" "103249037" "subst" "0" "00006" "PAH_001233" "g.103249037T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1640}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855259T>C" "" "VUS" "" "0000907841" "0" "50" "12" "103237453" "103237453" "subst" "0" "00006" "PAH_000704" "g.103237453C>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1641}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843675C>A" "" "VUS" "" "0000907842" "0" "90" "12" "103306574" "103306577" "del" "0" "00006" "PAH_001552" "g.103306574_103306577del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1642}" "" "c.160_163del (Glu54ThrfsTer9)" "" "Unknown" "" "" "0" "" "" "g.102912796_102912799del" "" "pathogenic (recessive)" "" "0000907843" "0" "50" "12" "103234276" "103234276" "subst" "0" "00006" "PAH_000655" "g.103234276A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1643}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840498A>C" "" "VUS" "" "0000907844" "0" "50" "12" "103306634" "103306634" "subst" "0" "00006" "PAH_001589" "g.103306634T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1644}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912856T>C" "" "VUS" "" "0000907845" "0" "90" "12" "103237550" "103237550" "subst" "0" "00006" "PAH_000782" "g.103237550A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1645}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843772A>C" "" "pathogenic (recessive)" "" "0000907846" "0" "90" "12" "103306568" "103306568" "subst" "0" "00006" "PAH_001544" "g.103306568C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1646}" "" "IVS2+1G>C" "" "Unknown" "" "" "0" "" "" "g.102912790C>G" "" "pathogenic (recessive)" "" "0000907847" "0" "50" "12" "103271328" "103271328" "subst" "0" "00006" "PAH_001400" "g.103271328A>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1647}" "" "" "" "Unknown" "" "" "0" "" "" "g.102877550A>C" "" "VUS" "" "0000907848" "0" "50" "12" "103306585" "103306585" "subst" "0" "00006" "PAH_001561" "g.103306585A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1648}" "" "" "" "Unknown" "" "" "0" "" "" "g.102912807A>G" "" "VUS" "" "0000907849" "0" "50" "12" "103288584" "103288584" "subst" "0" "00006" "PAH_001457" "g.103288584A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1649}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894806A>T" "" "VUS" "" "0000907850" "0" "50" "12" "103288518" "103288518" "subst" "0" "00006" "PAH_001429" "g.103288518T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1650}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894740T>C" "" "VUS" "" "0000907851" "0" "50" "12" "103249054" "103249054" "subst" "0" "00006" "PAH_001244" "g.103249054G>A" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1651}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855276G>A" "" "VUS" "" "0000907852" "0" "50" "12" "103246708" "103246708" "subst" "0" "00006" "PAH_001117" "g.103246708G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1652}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852930G>C" "" "VUS" "" "0000907853" "0" "50" "12" "103246648" "103246648" "subst" "0" "00006" "PAH_001077" "g.103246648A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1653}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852870A>G" "" "VUS" "" "0000907854" "0" "50" "12" "103246638" "103246638" "subst" "0" "00006" "PAH_001063" "g.103246638G>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1654}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852860G>C" "" "VUS" "" "0000907855" "0" "50" "12" "103240726" "103240726" "subst" "0" "00006" "PAH_000951" "g.103240726T>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1655}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846948T>G" "" "VUS" "" "0000907856" "0" "50" "12" "103240681" "103240681" "subst" "0" "00006" "PAH_000916" "g.103240681G>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1656}" "" "" "" "Unknown" "" "" "0" "" "" "g.102846903G>T" "" "VUS" "" "0000907857" "0" "50" "12" "103234250" "103234250" "subst" "0" "00006" "PAH_000636" "g.103234250C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1657}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840472C>G" "" "VUS" "" "0000907858" "0" "50" "12" "103234225" "103234225" "subst" "0" "00006" "PAH_000617" "g.103234225A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1658}" "" "" "" "Unknown" "" "" "0" "" "" "g.102840447A>G" "" "VUS" "" "0000907859" "0" "50" "12" "103307583" "103307583" "subst" "0" "00006" "PAH_000138" "g.103307583A>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1659}" "" "IVS1+907T>C" "" "Unknown" "" "" "0" "" "" "g.102913805A>G" "" "VUS" "" "0000907860" "0" "90" "12" "103249111" "103249111" "subst" "0" "00006" "PAH_001283" "g.103249111C>G" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1660}" "" "IVS5-1G>C" "" "Unknown" "" "" "0" "" "" "g.102855333C>G" "" "pathogenic (recessive)" "" "0000907861" "0" "90" "12" "103245463" "103245463" "subst" "0" "00006" "PAH_000962" "g.103245463A>T" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1661}" "" "IVS8+2T>A" "" "Unknown" "" "" "0" "" "" "g.102851685A>T" "" "pathogenic (recessive)" "" "0000907862" "0" "50" "12" "103260360" "103260363" "del" "0" "00006" "PAH_000354" "g.103260360_103260363del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1662}" "" "IVS5+15_509+18del" "" "Unknown" "" "" "0" "" "" "g.102866582_102866585del" "" "VUS" "" "0000907863" "0" "50" "12" "103306681" "103306689" "del" "0" "00006" "PAH_001603" "g.103306681_103306689del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1663}" "" "IVS1-13_-5del, 61-13_-5del" "" "Unknown" "" "" "0" "" "" "g.102912903_102912911del" "" "VUS" "" "0000907864" "0" "50" "12" "103288693" "103288696" "del" "0" "00006" "PAH_001527" "g.103288693_103288696del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1664}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894915_102894918del" "" "VUS" "" "0000907865" "0" "90" "12" "103288629" "103288632" "del" "0" "00006" "PAH_001473" "g.103288629_103288632del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1665}" "" "" "" "Unknown" "" "" "0" "" "" "g.102894851_102894854del" "" "pathogenic (recessive)" "" "0000907866" "0" "90" "12" "103246712" "103246712" "del" "0" "00006" "PAH_001118" "g.103246712del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1666}" "" "" "" "Unknown" "" "" "0" "" "" "g.102852934del" "" "pathogenic (recessive)" "" "0000907867" "0" "90" "12" "103238194" "103238195" "del" "0" "00006" "PAH_000878" "g.103238194_103238195del" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1667}" "" "" "" "Unknown" "" "" "0" "" "" "g.102844416_102844417del" "" "pathogenic (recessive)" "" "0000907868" "0" "90" "12" "103249018" "103249018" "dup" "0" "00006" "PAH_001221" "g.103249018dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1668}" "" "" "" "Unknown" "" "" "0" "" "" "g.102855240dup" "" "pathogenic (recessive)" "" "0000907869" "0" "50" "12" "103245534" "103245534" "dup" "0" "00006" "PAH_001005" "g.103245534dup" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1669}" "" "" "" "Unknown" "" "" "0" "" "" "g.102851756dup" "" "VUS" "" "0000907870" "0" "50" "12" "103237496" "103237496" "subst" "0" "00006" "PAH_000738" "g.103237496T>C" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1670}" "" "" "" "Unknown" "" "" "0" "" "" "g.102843718T>C" "" "VUS" "" "0000907871" "1" "90" "12" "103246700" "103246713" "delins" "0" "00006" "PAH_001111" "g.103246700_103246713delinsTACAGGTCGGAGG" "" "{PMID:Hillert 2020:32668217}, {BIOPKU:1671}" "" "722_735delinsCCTCCGACCTGTA, [722del;735G>A]" "" "Unknown" "" "" "0" "" "" "g.102852922_102852935delinsTACAGGTCGGAGG" "" "pathogenic (recessive)" "" "0000907872" "21" "90" "12" "103237454" "103237454" "subst" "0.00010972" "00006" "PAH_000150" "g.103237454T>C" "" "{PMID:Zschocke 1999:10472529}" "" "E390G" "variant initially scored as homozygous" "Germline" "" "" "0" "" "" "" "" "pathogenic (recessive)" "" "0000907873" "21" "10" "12" "103246700" "103246700" "subst" "0.289791" "00006" "PAH_000083" "g.103246700C>T" "" "{PMID:Zschocke 1999:10472529}" "" "V245V" "" "Germline" "" "" "0" "" "" "" "" "benign" "" "0000907874" "11" "90" "12" "103237423" "103240730" "del" "0" "00006" "PAH_000563" "g.(103234294_103237423)_(103240730_103245464)del" "" "{PMID:Zschocke 1999:10472529}" "" "del ex9-11" "6.7 Kb deletion" "Germline" "" "" "0" "" "" "g.(102840516_102843645)_(102846952_102851686)del" "" "pathogenic (recessive)" "" "0000913733" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "02327" "PAH_000061" "g.103245479C>A" "" "" "" "PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000925518" "0" "90" "12" "103249009" "103249030" "del" "0" "02329" "PAH_000146" "g.103249009_103249030del" "" "" "" "PAH(NM_001354304.2):c.592_613delTATAAAACCCATGCTTGCTATG (p.Y198Sfs*136)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929995" "0" "90" "12" "103240701" "103240701" "subst" "0" "02327" "PAH_000054" "g.103240701G>T" "" "" "" "PAH(NM_000277.1):c.941C>A (p.P314H), PAH(NM_000277.3):c.941C>A (p.P314H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929996" "0" "90" "12" "103240726" "103240726" "subst" "1.21955E-5" "02327" "PAH_000060" "g.103240726T>C" "" "" "" "PAH(NM_000277.3):c.916A>G (p.I306V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929997" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "02329" "PAH_000061" "g.103245479C>A" "" "" "" "PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929998" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "02327" "PAH_000003" "g.103246593G>A" "" "" "" "PAH(NM_000277.3):c.842C>T (p.P281L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000929999" "0" "90" "12" "103246708" "103246708" "subst" "4.06772E-5" "02325" "PAH_000088" "g.103246708G>A" "" "" "" "PAH(NM_000277.1):c.727C>T (p.R243*), PAH(NM_000277.3):c.727C>T (p.R243*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000930000" "0" "70" "12" "103249093" "103249093" "subst" "0" "02327" "PAH_001268" "g.103249093C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000930001" "0" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "02327" "PAH_000123" "g.103288554G>T" "" "" "" "PAH(NM_000277.3):c.311C>A (p.(Ala104Asp), p.A104D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966645" "0" "90" "12" "103288600" "103288600" "dup" "0" "02325" "PAH_000460" "g.103288600dup" "" "" "" "PAH(NM_000277.3):c.266dupC (p.A90Cfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000966646" "0" "30" "12" "103310787" "103310787" "subst" "0" "02329" "PAH_000167" "g.103310787G>A" "" "" "" "PAH(NM_000277.3):c.60+62C>T, PAH(NM_001354304.2):c.60+62C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000979967" "0" "50" "12" "103237564" "103237564" "subst" "4.07252E-6" "02327" "PAH_000799" "g.103237564G>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979968" "0" "90" "12" "103245479" "103245479" "subst" "0.000565565" "01804" "PAH_000061" "g.103245479C>A" "" "" "" "PAH(NM_000277.3):c.898G>T (p.(Ala300Ser), p.A300S), PAH(NM_001354304.2):c.898G>T (p.A300S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979969" "0" "90" "12" "103246593" "103246593" "subst" "0.000109749" "02325" "PAH_000003" "g.103246593G>A" "" "" "" "PAH(NM_000277.3):c.842C>T (p.P281L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979970" "0" "90" "12" "103249093" "103249093" "subst" "5.28636E-5" "01804" "PAH_000210" "g.103249093C>A" "" "" "" "PAH(NM_000277.3):c.527G>T (p.(Arg176Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979971" "0" "70" "12" "103260377" "103260377" "subst" "0.000304916" "01804" "PAH_000113" "g.103260377C>T" "" "" "" "PAH(NM_000277.1):c.506G>A (p.R169H), PAH(NM_000277.3):c.506G>A (p.(Arg169His), p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0000979972" "0" "50" "12" "103260383" "103260383" "subst" "0.00101169" "01804" "PAH_000001" "g.103260383T>C" "" "" "" "PAH(NM_000277.1):c.500A>G (p.N167S), PAH(NM_000277.3):c.500A>G (p.(Asn167Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000979973" "0" "90" "12" "103260410" "103260410" "subst" "0.000101571" "01804" "PAH_000115" "g.103260410C>T" "" "" "" "PAH(NM_000277.1):c.473G>A (p.R158Q), PAH(NM_000277.3):c.473G>A (p.(Arg158Gln), p.R158Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979974" "0" "90" "12" "103288554" "103288554" "subst" "5.27996E-5" "01804" "PAH_000123" "g.103288554G>T" "" "" "" "PAH(NM_000277.3):c.311C>A (p.(Ala104Asp), p.A104D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979975" "0" "90" "12" "103306594" "103306594" "subst" "0.000117804" "01804" "PAH_000136" "g.103306594A>G" "" "" "" "PAH(NM_000277.3):c.143T>C (p.(Leu48Ser), p.L48S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979976" "0" "90" "12" "103306620" "103306620" "subst" "9.7492E-5" "02327" "PAH_000182" "g.103306620G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000979977" "0" "50" "12" "103310879" "103310879" "subst" "0.000637584" "02325" "PAH_000142" "g.103310879G>C" "" "" "" "PAH(NM_000277.3):c.30C>G (p.G10=), PAH(NM_001354304.1):c.30C>G (p.G10=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000984941" "0" "70" "12" "103245511" "103245511" "subst" "0" "01741" "PAH_001646" "g.103245511C>A" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102851733C>A" "" "likely pathogenic" "" "0000984947" "0" "90" "12" "103237454" "103237454" "subst" "0.00010972" "01741" "PAH_000150" "g.103237454T>C" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.102843676T>C" "" "pathogenic (recessive)" "" "0000988487" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "5/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic" "" "0000988488" "0" "70" "12" "103249009" "103249009" "subst" "1.21898E-5" "00006" "PAH_000241" "g.103249009T>C" "2/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102855231T>C" "" "likely pathogenic" "" "0000988489" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "2/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic" "" "0000988490" "0" "90" "12" "103260385" "103260385" "subst" "0" "00006" "PAH_000259" "g.103260385G>C" "2/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102866607G>C" "" "pathogenic" "" "0000988491" "0" "50" "12" "103306612" "103306612" "subst" "0" "00006" "PAH_001579" "g.103306612T>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102912834T>A" "" "VUS" "" "0000988492" "0" "50" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "VUS" "" "0000988493" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "208_210delTCT" "" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic" "" "0000988494" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic" "" "0000988495" "0" "90" "12" "103260442" "103260442" "subst" "0" "00006" "PAH_000244" "g.103260442C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102866664C>T" "" "pathogenic" "" "0000988496" "0" "70" "12" "103246713" "103246713" "del" "0" "00006" "PAH_000335" "g.103246713del" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "722delG" "" "Germline" "" "" "0" "" "" "g.102852935del" "" "likely pathogenic" "" "0000988497" "0" "90" "12" "103246713" "103246713" "subst" "0.000166812" "00006" "PAH_000090" "g.103246713C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic" "" "0000988498" "0" "70" "12" "103246695" "103246695" "subst" "0" "00006" "PAH_000234" "g.103246695C>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852917C>A" "" "likely pathogenic" "" "0000988499" "0" "50" "12" "103246608" "103246608" "subst" "0" "00006" "PAH_001034" "g.103246608A>C" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852830A>C" "" "VUS" "" "0000988500" "0" "90" "12" "103240713" "103240713" "subst" "0" "00006" "PAH_000059" "g.103240713G>A" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102846935G>A" "" "pathogenic" "" "0000988501" "0" "90" "12" "103234270" "103234270" "subst" "4.46773E-5" "00006" "PAH_000005" "g.103234270C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102840492C>T" "" "pathogenic" "" "0000988502" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic" "" "0000988503" "0" "50" "12" "103234229" "103234229" "subst" "0" "00006" "PAH_000618" "g.103234229C>T" "1/24 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102840451C>T" "" "VUS" "" "0000988504" "0" "50" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "9/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "VUS" "" "0000988505" "0" "90" "12" "103234255" "103234255" "subst" "4.06147E-6" "00006" "PAH_000023" "g.103234255C>G" "4/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102840477C>G" "" "pathogenic" "" "0000988506" "0" "90" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "3/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "pathogenic" "" "0000988507" "0" "70" "12" "103234172" "103234172" "subst" "0" "00006" "PAH_000220" "g.103234172A>T" "3/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102840394A>T" "" "likely pathogenic" "" "0000988508" "0" "50" "12" "103237449" "103237449" "subst" "5.6893E-5" "00006" "PAH_000225" "g.103237449A>T" "2/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102843671A>T" "" "VUS" "" "0000988509" "0" "90" "12" "103288657" "103288659" "del" "0" "00006" "PAH_000191" "g.103288657_103288659del" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "208_210delTCT" "" "Germline" "" "" "0" "" "" "g.102894879_102894881del" "" "pathogenic" "" "0000988510" "0" "50" "12" "103288555" "103288555" "subst" "0" "00006" "PAH_001441" "g.103288555C>A" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102894777C>A" "" "VUS" "" "0000988511" "0" "90" "12" "103288534" "103288534" "subst" "3.24939E-5" "00006" "PAH_000121" "g.103288534G>A" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102894756G>A" "" "pathogenic" "" "0000988512" "0" "90" "12" "103260419" "103260419" "subst" "2.0316E-5" "00006" "PAH_000243" "g.103260419C>T" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102866641C>T" "" "pathogenic" "" "0000988513" "0" "90" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "pathogenic" "" "0000988514" "0" "90" "12" "103246713" "103246713" "subst" "0.000166812" "00006" "PAH_000090" "g.103246713C>T" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852935C>T" "" "pathogenic" "" "0000988515" "0" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "00006" "PAH_000208" "g.103246681G>A" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852903G>A" "" "pathogenic" "" "0000988516" "0" "70" "12" "103246665" "103246665" "subst" "0" "00006" "PAH_000232" "g.103246665C>A" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852887C>A" "" "likely pathogenic" "" "0000988517" "0" "90" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "pathogenic" "" "0000988518" "0" "90" "12" "103238202" "103238202" "subst" "4.07325E-6" "00006" "PAH_000301" "g.103238202C>T" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102844424C>T" "" "pathogenic" "" "0000988519" "0" "70" "12" "103234192" "103234192" "subst" "0" "00006" "PAH_000221" "g.103234192G>T" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102840414G>T" "" "likely pathogenic" "" "0000988520" "0" "50" "12" "103237500" "103237500" "subst" "3.25132E-5" "00006" "PAH_000287" "g.103237500G>C" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102843722G>C" "" "VUS" "" "0000988521" "0" "90" "12" "0" "0" "" "" "00006" "PTPRQ_000000" "g.?" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "1197A>T (V399X)" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "" "0000988522" "0" "70" "12" "103237424" "103237424" "subst" "0" "00006" "PAH_000186" "g.103237424C>T" "1/36 case chromosomes" "{PMID:Wang 2019:31737040}" "" "" "" "Germline" "" "" "0" "" "" "g.102843646C>T" "" "likely pathogenic" "" "0000999565" "0" "10" "12" "103238017" "103238017" "subst" "0" "02326" "PAH_000151" "g.103238017C>T" "" "" "" "PAH(NM_000277.3):c.1065+97G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0000999566" "0" "90" "12" "103248932" "103248932" "subst" "0.000552693" "02327" "PAH_000006" "g.103248932C>T" "" "" "" "PAH(NM_000277.1):c.688G>A (p.V230I), PAH(NM_000277.3):c.688G>A (p.(Val230Ile), p.V230I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000999567" "0" "10" "12" "103249164" "103249164" "subst" "0" "02326" "PAH_000508" "g.103249164C>T" "" "" "" "PAH(NM_000277.3):c.510-54G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" "" "0001007285" "1" "70" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "likely pathogenic" "" "0001007286" "1" "70" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "likely pathogenic" "" "0001007287" "1" "70" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "likely pathogenic" "" "0001007288" "3" "70" "12" "103234250" "103234250" "subst" "0.00010966" "00006" "PAH_000148" "g.103234250C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102840472C>T" "" "likely pathogenic" "" "0001007289" "1" "70" "12" "103246701" "103246701" "subst" "0.000500041" "00006" "PAH_000084" "g.103246701A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852923A>G" "" "likely pathogenic" "" "0001007290" "1" "70" "12" "103288682" "103288682" "subst" "1.62815E-5" "00006" "PAH_000528" "g.103288682G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102894904G>C" "" "likely pathogenic" "" "0001007291" "1" "70" "12" "103306620" "103306620" "subst" "9.7492E-5" "00006" "PAH_000182" "g.103306620G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912842G>C" "" "likely pathogenic" "" "0001007292" "1" "70" "12" "103237407" "103237407" "subst" "0" "00006" "PAH_000280" "g.103237407C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102843629C>T" "" "likely pathogenic" "" "0001007293" "1" "70" "12" "103306622" "103306624" "del" "0" "00006" "PAH_000216" "g.103306622_103306624del" "" "{PMID:Navarrete 2019:30626930}" "" "116_118delTCT" "" "Germline" "" "" "0" "" "" "g.102912844_102912846del" "" "likely pathogenic" "" "0001007294" "1" "70" "12" "103246707" "103246707" "subst" "7.72747E-5" "00006" "PAH_000086" "g.103246707C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852929C>T" "" "likely pathogenic" "" "0001007295" "1" "70" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "likely pathogenic" "" "0001007296" "1" "70" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "likely pathogenic" "" "0001007297" "1" "90" "12" "103249109" "103249109" "subst" "0" "00006" "PAH_000147" "g.103249109C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102855331C>G" "" "pathogenic" "" "0001007298" "1" "70" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "likely pathogenic" "" "0001007299" "1" "70" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "likely pathogenic" "" "0001007300" "1" "70" "12" "103260383" "103260383" "subst" "4.06303E-5" "00006" "PAH_000452" "g.103260383T>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102866605T>A" "" "likely pathogenic" "" "0001007301" "1" "90" "12" "103260373" "103260442" "del" "0" "00006" "PAH_000450" "g.(103249111_103260373)_(103260442_103271239)del" "" "{PMID:Navarrete 2019:30626930}" "" "442-?_509+?del" "" "Germline" "" "" "0" "" "" "g.102855333_102866595()_(102866664_102877461)del" "" "pathogenic" "" "0001007302" "1" "70" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "likely pathogenic" "" "0001007303" "1" "70" "12" "103249094" "103249094" "subst" "1.22005E-5" "00006" "PAH_000108" "g.103249094G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102855316G>A" "" "likely pathogenic" "" "0001007304" "3" "70" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "likely pathogenic" "" "0001007305" "1" "70" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "likely pathogenic" "" "0001007306" "1" "70" "12" "103310844" "103310844" "subst" "7.31155E-5" "00006" "PAH_000139" "g.103310844C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "likely pathogenic" "" "0001007307" "1" "70" "12" "103310844" "103310844" "subst" "7.31155E-5" "00006" "PAH_000139" "g.103310844C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102917066C>A" "" "likely pathogenic" "" "0001007308" "1" "70" "12" "103306564" "103306564" "subst" "4.4694E-5" "00006" "PAH_000132" "g.103306564C>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912786C>G" "" "likely pathogenic" "" "0001007309" "1" "70" "12" "103238152" "103238152" "subst" "0" "00006" "PAH_000846" "g.103238152A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102844374A>C" "" "likely pathogenic" "" "0001007349" "1" "70" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "likely pathogenic" "" "0001007350" "1" "70" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "likely pathogenic" "" "0001007351" "1" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "" "{PMID:Navarrete 2019:30626930}" "" "592_613del22" "" "Germline" "" "" "0" "" "" "g.102855231_102855252del" "" "pathogenic" "" "0001007352" "1" "70" "12" "103245479" "103245479" "subst" "0.000565565" "00006" "PAH_000061" "g.103245479C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102851701C>A" "" "likely pathogenic" "" "0001007395" "2" "70" "12" "103306579" "103306579" "subst" "0.00166573" "00006" "PAH_000134" "g.103306579C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912801C>T" "" "likely pathogenic" "" "0001007396" "2" "70" "12" "103249112" "103249112" "subst" "0" "00006" "PAH_001284" "g.103249112T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102855334T>C" "" "likely pathogenic" "" "0001007397" "2" "90" "12" "103249009" "103249030" "del" "0" "00006" "PAH_000146" "g.103249009_103249030del" "" "{PMID:Navarrete 2019:30626930}" "" "592_613delTATAAAACCCATGCTTGCTATG" "" "Germline" "" "rs199475697" "0" "" "" "g.102855231_102855252del" "" "pathogenic" "" "0001007398" "2" "70" "12" "103234252" "103234252" "subst" "0.000369588" "00006" "PAH_000004" "g.103234252T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102840474T>C" "" "likely pathogenic" "" "0001007399" "2" "70" "12" "103240716" "103240716" "subst" "1.62575E-5" "00006" "PAH_000418" "g.103240716G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102846938G>A" "" "likely pathogenic" "" "0001007400" "2" "70" "12" "103288682" "103288682" "subst" "1.62815E-5" "00006" "PAH_000528" "g.103288682G>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102894904G>C" "" "likely pathogenic" "" "0001007401" "2" "70" "12" "103249087" "103249087" "subst" "6.50444E-5" "00006" "PAH_000107" "g.103249087T>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102855309T>C" "" "likely pathogenic" "" "0001007402" "2" "70" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "likely pathogenic" "" "0001007403" "2" "70" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "likely pathogenic" "" "0001007404" "2" "70" "12" "103234285" "103234285" "subst" "0.000601171" "00006" "PAH_000027" "g.103234285G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102840507G>A" "" "likely pathogenic" "" "0001007405" "2" "70" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "likely pathogenic" "" "0001007406" "2" "70" "12" "103246593" "103246593" "subst" "0.000109749" "00006" "PAH_000003" "g.103246593G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852815G>A" "" "likely pathogenic" "" "0001007407" "2" "70" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "likely pathogenic" "" "0001007408" "2" "70" "12" "103306572" "103306572" "subst" "0.000170633" "00006" "PAH_000214" "g.103306572A>C" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912794A>C" "" "likely pathogenic" "" "0001007409" "2" "70" "12" "103288671" "103288671" "subst" "0.000256141" "00006" "PAH_000145" "g.103288671A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102894893A>G" "" "likely pathogenic" "" "0001007410" "2" "70" "12" "103246653" "103246653" "subst" "0.000227533" "00006" "PAH_000076" "g.103246653C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852875C>T" "" "likely pathogenic" "" "0001007411" "2" "70" "12" "103237484" "103237484" "subst" "0.000422716" "00006" "PAH_000033" "g.103237484G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102843706G>A" "" "likely pathogenic" "" "0001007412" "2" "70" "12" "103246714" "103246714" "subst" "0.000134298" "00006" "PAH_000160" "g.103246714G>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102852936G>A" "" "likely pathogenic" "" "0001007413" "2" "70" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "likely pathogenic" "" "0001007414" "2" "70" "12" "103306594" "103306594" "subst" "0.000117804" "00006" "PAH_000136" "g.103306594A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102912816A>G" "" "likely pathogenic" "" "0001007415" "2" "70" "12" "103238134" "103238134" "subst" "6.09776E-5" "00006" "PAH_000044" "g.103238134A>G" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102844356A>G" "" "likely pathogenic" "" "0001007416" "2" "70" "12" "103271235" "103271235" "subst" "2.84252E-5" "00006" "PAH_000144" "g.103271235C>A" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102877457C>A" "" "likely pathogenic" "" "0001007417" "2" "70" "12" "103237461" "103237461" "subst" "8.12863E-5" "00006" "PAH_000193" "g.103237461C>T" "" "{PMID:Navarrete 2019:30626930}" "" "" "" "Germline" "" "" "0" "" "" "g.102843683C>T" "" "likely pathogenic" "" "0001014893" "0" "90" "12" "103237528" "103237528" "dup" "0" "02327" "PAH_000762" "g.103237528dup" "" "" "" "PAH(NM_000277.3):c.1099dupC (p.L367Pfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001014894" "0" "70" "12" "103260377" "103260377" "subst" "0.000304916" "02329" "PAH_000113" "g.103260377C>T" "" "" "" "PAH(NM_000277.1):c.506G>A (p.R169H), PAH(NM_000277.3):c.506G>A (p.(Arg169His), p.R169H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001014895" "0" "90" "12" "103271235" "103271235" "subst" "2.84252E-5" "02326" "PAH_000144" "g.103271235C>A" "" "" "" "PAH(NM_000277.3):c.441+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001017275" "1" "90" "12" "103238137" "103238137" "subst" "0.000105688" "00006" "PAH_000046" "g.103238137G>C" "" "{PMID:Lord 2024:39243181}" "" "" "" "Germline" "" "" "0" "" "" "g.102844359G>C" "{CV:8582}" "pathogenic (recessive)" "" "0001017276" "2" "70" "12" "103237568" "103237568" "subst" "0.000244415" "00006" "PAH_000039" "g.103237568C>T" "" "{PMID:Lord 2024:39243181}" "" "" "" "Germline" "" "" "0" "" "" "g.102843790C>T" "" "likely pathogenic (recessive)" "" "0001026091" "0" "90" "12" "103237528" "103237528" "dup" "0" "02325" "PAH_000762" "g.103237528dup" "" "" "" "PAH(NM_000277.3):c.1099dupC (p.L367Pfs*27)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038883" "0" "90" "12" "103232994" "103232994" "subst" "0" "02327" "PAH_000016" "g.103232994C>A" "" "" "" "PAH(NM_000277.3):c.1318G>T (p.E440*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038884" "0" "90" "12" "103234250" "103234250" "subst" "0.00010966" "01804" "PAH_000148" "g.103234250C>T" "" "" "" "PAH(NM_000277.3):c.1243G>A (p.(Asp415Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038885" "0" "70" "12" "103234265" "103234265" "subst" "0" "02327" "PAH_000024" "g.103234265A>G" "" "" "" "PAH(NM_000277.3):c.1228T>C (p.F410L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038886" "0" "90" "12" "103234285" "103234285" "subst" "0.000601171" "01804" "PAH_000027" "g.103234285G>A" "" "" "" "PAH(NM_000277.1):c.1208C>T (p.A403V), PAH(NM_000277.3):c.1208C>T (p.(Ala403Val), p.A403V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038887" "0" "90" "12" "103237484" "103237484" "subst" "0.000422716" "01804" "PAH_000033" "g.103237484G>A" "" "" "" "PAH(NM_000277.1):c.1139C>T (p.T380M), PAH(NM_000277.3):c.1139C>T (p.(Thr380Met), p.T380M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038888" "0" "90" "12" "103238137" "103238137" "subst" "0.000105688" "01804" "PAH_000046" "g.103238137G>C" "" "" "" "PAH(NM_000277.3):c.1042C>G (p.(Leu348Val), p.L348V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038889" "0" "70" "12" "103245533" "103245533" "subst" "4.07136E-6" "02327" "PAH_000425" "g.103245533C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001038890" "0" "90" "12" "103246681" "103246681" "subst" "2.43855E-5" "02327" "PAH_000208" "g.103246681G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038891" "0" "90" "12" "103246713" "103246713" "del" "0" "02327" "PAH_000335" "g.103246713del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038892" "0" "90" "12" "103260411" "103260411" "subst" "2.84416E-5" "01804" "PAH_000212" "g.103260411G>A" "" "" "" "PAH(NM_000277.3):c.472C>T (p.(Arg158Trp))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001038893" "0" "90" "12" "103310844" "103310844" "subst" "7.31155E-5" "01804" "PAH_000139" "g.103310844C>A" "" "" "" "PAH(NM_000277.3):c.60+5G>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046339" "0" "90" "12" "103234271" "103234271" "subst" "0.000775748" "02325" "PAH_000010" "g.103234271G>A" "" "" "" "PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001046340" "0" "30" "12" "103240734" "103240734" "subst" "8.13134E-6" "02325" "PAH_000154" "g.103240734A>G" "" "" "" "PAH(NM_000277.3):c.913-5T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001049630" "1" "90" "12" "103234271" "103234271" "subst" "0.000775748" "00006" "PAH_000010" "g.103234271G>A" "" "{PMID:Patalan 2022:35270292}" "" "" "" "Germline" "" "" "0" "" "" "g.102840493G>A" "" "pathogenic (recessive)" "" "0001049631" "2" "70" "12" "103249076" "103249076" "subst" "0" "00006" "PAH_000448" "g.103249076C>T" "" "{PMID:Patalan 2022:35270292}" "" "" "" "Germline" "" "" "0" "" "" "g.102855298C>T" "" "likely pathogenic (recessive)" "" "0001054457" "0" "90" "12" "103234177" "103234177" "subst" "" "01804" "PAH_000008" "g.103234177C>T" "" "" "" "PAH(NM_000277.1):c.1315+1G>A, PAH(NM_000277.3):c.1315+1G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054458" "0" "70" "12" "103240705" "103240705" "subst" "" "01804" "PAH_000056" "g.103240705C>T" "" "" "" "PAH(NM_000277.3):c.937G>A (p.(Ala313Thr), p.A313T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001054459" "0" "70" "12" "103245509" "103245509" "subst" "" "02327" "PAH_000064" "g.103245509G>A" "" "" "" "PAH(NM_000277.3):c.868C>T (p.H290Y)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001054460" "0" "90" "12" "103246588" "103246588" "subst" "" "02327" "PAH_000067" "g.103246588C>T" "" "" "" "PAH(NM_000277.1):c.842+5G>A, PAH(NM_000277.3):c.842+5G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054461" "0" "90" "12" "103288672" "103288672" "subst" "" "01804" "PAH_001509" "g.103288672T>C" "" "" "" "PAH(NM_000277.3):c.193A>G (p.(Ile65Val))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001054462" "0" "70" "12" "103306579" "103306579" "subst" "" "01804" "chr12_009304" "g.103306579C>G" "" "" "" "PAH(NM_000277.3):c.158G>C (p.(Arg53Pro))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001054463" "0" "50" "12" "103306579" "103306579" "subst" "" "01804" "PAH_000134" "g.103306579C>T" "" "" "" "PAH(NM_000277.1):c.158G>A (p.R53H), PAH(NM_000277.3):c.158G>A (p.(Arg53His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes PAH ## Count = 5962 "{{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}}" "0000000281" "00000005" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asn167Ser)" "" "0000000282" "00000005" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asn167Ser)" "" "0000000283" "00000005" "50" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352Valfs*48)" "" "0000000284" "00000005" "50" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "7" "0000000285" "00000005" "50" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000000286" "00000005" "50" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000000287" "00000005" "50" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000000288" "00000005" "50" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000000289" "00000005" "50" "1315" "1" "1315" "1" "c.1315+1G>A" "r.(=)" "p.(=)" "" "0000000290" "00000005" "50" "1315" "1" "1315" "1" "c.1315+1G>A" "r.(=)" "p.(=)" "" "0000021428" "00000005" "55" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "4i" "0000021429" "00000005" "55" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "12" "0000048384" "00000005" "50" "1124" "0" "1124" "0" "c.1124A>G" "r.(?)" "p.(Gln375Arg)" "11" "0000048962" "00000005" "30" "1065" "155" "1065" "156" "c.1065+155_1065+156delinsCG" "r.(=)" "p.(=)" "10i" "0000048963" "00000005" "30" "1066" "-193" "1066" "-193" "c.1066-193G>C" "r.(=)" "p.(=)" "10i" "0000048964" "00000005" "10" "1155" "0" "1155" "0" "c.1155C>G" "r.(=)" "p.(Leu385=)" "11" "0000248234" "00000005" "10" "168" "19" "168" "19" "c.168+19T>C" "r.(=)" "p.(=)" "" "0000248285" "00000005" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000249162" "00000005" "10" "61" "-907" "61" "-907" "c.61-907T>C" "r.(=)" "p.(=)" "" "0000250937" "00000005" "10" "168" "19" "168" "19" "c.168+19T>C" "r.(=)" "p.(=)" "" "0000252458" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000252474" "00000005" "90" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.(Cys217Gly)" "" "0000252497" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000252498" "00000005" "90" "992" "0" "992" "0" "c.992T>G" "r.(?)" "p.(Phe331Cys)" "" "0000252499" "00000005" "90" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Phe410Leu)" "" "0000252514" "00000005" "90" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Ile174Thr)" "" "0000252522" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000252537" "00000005" "90" "743" "0" "743" "0" "c.743T>C" "r.(?)" "p.(Leu248Pro)" "" "0000252542" "00000005" "90" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Pro)" "" "0000252544" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000252551" "00000005" "90" "293" "0" "293" "0" "c.293T>C" "r.(?)" "p.(Leu98Ser)" "" "0000252572" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000252573" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000252583" "00000005" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Val190Ala)" "" "0000252595" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000252625" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl?" "p.?" "" "0000252688" "00000005" "50" "521" "0" "521" "0" "c.521T>A" "r.(?)" "p.(Ile174Asn)" "" "0000255416" "00000005" "90" "142" "0" "142" "0" "c.142T>C" "r.(?)" "p.(Leu48=)" "" "0000255523" "00000005" "90" "763" "0" "763" "0" "c.763T>C" "r.(?)" "p.(Leu255=)" "" "0000296718" "00000005" "30" "1119" "0" "1119" "0" "c.1119C>T" "r.(?)" "p.(Ala373=)" "" "0000296719" "00000005" "30" "1161" "0" "1161" "0" "c.1161C>T" "r.(?)" "p.(Tyr387=)" "" "0000296720" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000296721" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000296722" "00000005" "10" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Tyr414=)" "" "0000296723" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0000296724" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "" "0000296725" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Val245=)" "" "0000296726" "00000005" "30" "772" "0" "772" "0" "c.772C>T" "r.(?)" "p.(Leu258=)" "" "0000296727" "00000005" "30" "825" "0" "825" "0" "c.825C>T" "r.(?)" "p.(Pro275=)" "" "0000296728" "00000005" "30" "837" "0" "837" "0" "c.837C>T" "r.(?)" "p.(Pro279=)" "" "0000300538" "00000005" "90" "1028" "0" "1028" "0" "c.1028A>G" "r.(?)" "p.(Tyr343Cys)" "" "0000300539" "00000005" "90" "1030" "0" "1030" "0" "c.1030G>A" "r.(?)" "p.(Gly344Ser)" "" "0000300540" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000300542" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(=)" "p.(=)" "" "0000300543" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000300544" "00000005" "50" "1103" "0" "1103" "0" "c.1103A>G" "r.(?)" "p.(Glu368Gly)" "" "0000300545" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000300546" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000300548" "00000005" "10" "1198" "0" "1198" "0" "c.1198A>C" "r.(?)" "p.(Arg400=)" "" "0000300549" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000300550" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000300551" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000300552" "00000005" "50" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000300553" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000300554" "00000005" "90" "1244" "0" "1244" "0" "c.1244A>C" "r.(?)" "p.(Asp415Ala)" "" "0000300555" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0000300556" "00000005" "90" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440Ter)" "" "0000300557" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl?" "p.?" "" "0000300558" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000300559" "00000005" "90" "223" "0" "223" "0" "c.223G>A" "r.(?)" "p.(Asp75Asn)" "" "0000300560" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000300561" "00000005" "90" "320" "0" "320" "0" "c.320A>C" "r.(?)" "p.(His107Pro)" "" "0000300562" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000300563" "00000005" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Pro119Ser)" "" "0000300564" "00000005" "90" "441" "1" "441" "1" "c.441+1G>A" "r.spl?" "p.?" "" "0000300565" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000300566" "00000005" "50" "505" "0" "505" "0" "c.505C>G" "r.(?)" "p.(Arg169Gly)" "" "0000300567" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000300568" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000300569" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "" "0000300570" "00000005" "90" "578" "0" "578" "0" "c.578C>T" "r.(?)" "p.(Thr193Ile)" "" "0000300571" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl?" "p.?" "" "0000300572" "00000005" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Cys203Tyr)" "" "0000300573" "00000005" "50" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000300574" "00000005" "90" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.(Asp222Gly)" "" "0000300575" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000300577" "00000005" "90" "712" "0" "712" "0" "c.712A>G" "r.(?)" "p.(Thr238Ala)" "" "0000300578" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000300579" "00000005" "90" "722" "0" "722" "0" "c.722G>T" "r.(?)" "p.(Arg241Leu)" "" "0000300580" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000300581" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000300582" "00000005" "90" "728" "0" "728" "0" "c.728G>T" "r.(?)" "p.(Arg243Leu)" "" "0000300583" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Val245=)" "" "0000300584" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000300585" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000300586" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000300587" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000300588" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl?" "p.?" "" "0000300589" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl?" "p.?" "" "0000300590" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000300591" "00000005" "50" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(His290Tyr)" "" "0000300592" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000300593" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000300594" "00000005" "90" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Ser310Phe)" "" "0000300595" "00000005" "90" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Ala313Thr)" "" "0000300596" "00000005" "90" "941" "0" "941" "0" "c.941C>A" "r.(?)" "p.(Pro314His)" "" "0000304926" "00000005" "30" "1377" "0" "1377" "0" "c.*18G>T" "r.(=)" "p.(=)" "" "0000304927" "00000005" "90" "1041" "0" "1041" "0" "c.1041C>G" "r.(?)" "p.(Leu347=)" "" "0000304928" "00000005" "90" "1042" "0" "1042" "0" "c.1042del" "r.(?)" "p.(Leu348CysfsTer52)" "" "0000304929" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000304933" "00000005" "30" "1127" "0" "1127" "0" "c.1127A>C" "r.(?)" "p.(Asn376Thr)" "" "0000304934" "00000005" "70" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000304938" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000304942" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0000304945" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000304947" "00000005" "30" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Gly10=)" "" "0000304952" "00000005" "90" "47" "0" "48" "0" "c.47_48del" "r.(?)" "p.(Ser16Ter)" "" "0000304954" "00000005" "50" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000304956" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000304958" "00000005" "90" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Trp187Ter)" "" "0000304961" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000304962" "00000005" "10" "695" "0" "695" "0" "c.695A>G" "r.(?)" "p.(Gln232Arg)" "" "0000304964" "00000005" "90" "720" "0" "720" "0" "c.720C>T" "r.(?)" "p.(Phe240=)" "" "0000304965" "00000005" "90" "726" "0" "726" "0" "c.726C>T" "r.(?)" "p.(Leu242=)" "" "0000304970" "00000005" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Pro281Ser)" "" "0000304972" "00000005" "30" "858" "0" "858" "0" "c.858G>A" "r.(?)" "p.(Glu286=)" "" "0000304975" "00000005" "70" "940" "0" "940" "0" "c.940C>A" "r.(?)" "p.(Pro314Thr)" "" "0000304976" "00000005" "70" "941" "0" "941" "0" "c.941C>A" "r.(?)" "p.(Pro314His)" "" "0000304978" "00000005" "10" "970" "-116" "970" "-111" "c.970-116_970-111del" "r.(=)" "p.(=)" "" "0000336917" "00000005" "70" "441" "5" "441" "5" "c.441+5G>T" "r.spl?" "p.?" "" "0000341050" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Val245=)" "" "0000342055" "00000005" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000342451" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000348926" "00000005" "70" "928" "0" "928" "0" "c.928T>C" "r.(?)" "p.(Ser310Pro)" "" "0000349724" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "" "0000405796" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000405797" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198Serfs*136)" "" "0000405798" "00000005" "90" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Gly171Arg)" "" "0000405801" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000405835" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198Serfs*136)" "" "0000546233" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0000546234" "00000005" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000546235" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000546236" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000546237" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000546238" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000546239" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000546240" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000546241" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.(?)" "p.(Val399=)" "" "0000546242" "00000005" "50" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000546243" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(=)" "p.(=)" "" "0000546244" "00000005" "10" "1065" "97" "1065" "97" "c.1065+97G>A" "r.(=)" "p.(=)" "" "0000546245" "00000005" "90" "1057" "0" "1058" "0" "c.1057_1058insTCAG" "r.(?)" "p.(Glu353ValfsTer42)" "" "0000546246" "00000005" "10" "969" "43" "969" "43" "c.969+43G>T" "r.(=)" "p.(=)" "" "0000546247" "00000005" "70" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Ala313Thr)" "" "0000546249" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000546250" "00000005" "30" "876" "0" "876" "0" "c.876C>A" "r.(?)" "p.(Pro292=)" "" "0000546251" "00000005" "30" "875" "0" "875" "0" "c.875C>A" "r.(?)" "p.(Pro292His)" "" "0000546252" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl?" "p.?" "" "0000546253" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000546254" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000546255" "00000005" "30" "820" "0" "820" "0" "c.820A>G" "r.(?)" "p.(Lys274Glu)" "" "0000546256" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000546257" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000546258" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000546259" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000546260" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000546261" "00000005" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ser231Phe)" "" "0000546262" "00000005" "70" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000546263" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000546264" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "" "0000546265" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000546266" "00000005" "10" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asn167Ser)" "" "0000546267" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000546268" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000546269" "00000005" "90" "442" "-5" "442" "-5" "c.442-5C>G" "r.spl?" "p.?" "" "0000546270" "00000005" "10" "353" "-22" "353" "-22" "c.353-22C>T" "r.(=)" "p.(=)" "" "0000546271" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000546272" "00000005" "30" "299" "0" "299" "0" "c.299A>G" "r.(?)" "p.(His100Arg)" "" "0000546273" "00000005" "30" "289" "0" "289" "0" "c.289A>C" "r.(?)" "p.(Ile97Leu)" "" "0000546274" "00000005" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000546275" "00000005" "10" "168" "19" "168" "19" "c.168+19T>C" "r.(=)" "p.(=)" "" "0000546276" "00000005" "10" "60" "62" "60" "62" "c.60+62C>T" "r.(=)" "p.(=)" "" "0000546277" "00000005" "10" "60" "62" "60" "62" "c.60+62C>T" "r.(=)" "p.(=)" "" "0000600837" "00000005" "70" "162" "0" "162" "0" "c.162A>T" "r.(?)" "p.(Leu54Phe)" "" "0000600838" "00000005" "70" "451" "0" "451" "0" "c.451del" "r.(?)" "p.(Asp151Ilefs*44)" "" "0000600839" "00000005" "70" "707" "-12" "711" "0" "c.707-12_711del" "r.spl" "p.?" "" "0000613805" "00000005" "30" "1329" "0" "1329" "0" "c.1329C>A" "r.(?)" "p.(Ile443=)" "" "0000613806" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000613807" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000613808" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl?" "p.?" "" "0000613809" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000613810" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000613811" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000613812" "00000005" "30" "-81" "0" "-81" "0" "c.-81C>T" "r.(?)" "p.(=)" "" "0000622766" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000622767" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000648429" "00000005" "10" "1316" "-35" "1316" "-35" "c.1316-35C>T" "r.(=)" "p.(=)" "" "0000648430" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000648431" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000648432" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000648433" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(=)" "p.(=)" "" "0000648434" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000648435" "00000005" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "" "0000648436" "00000005" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000648437" "00000005" "70" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000648438" "00000005" "70" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Asp129Tyr)" "" "0000648439" "00000005" "70" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000648440" "00000005" "50" "212" "0" "212" "0" "c.212G>A" "r.(?)" "p.(Arg71His)" "" "0000648441" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000648442" "00000005" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000656966" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000669144" "00000005" "70" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000679380" "00000005" "50" "1181" "0" "1181" "0" "c.1181A>C" "r.(?)" "p.(Asp394Ala)" "" "0000679381" "00000005" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000683333" "00000005" "70" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000686140" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000686141" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000686142" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000686143" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000686145" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000686148" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000686149" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000686169" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000686170" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000686172" "00000005" "90" "284" "0" "286" "0" "c.284_286del" "r.(?)" "p.(Ile95del)" "" "0000686173" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272*)" "" "0000686174" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000686176" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000691227" "00000005" "30" "842" "3" "842" "3" "c.842+3G>A" "r.spl?" "p.?" "" "0000691228" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000691229" "00000005" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000712808" "00000005" "50" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000723793" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0000723794" "00000005" "70" "1144" "0" "1144" "0" "c.1144T>C" "r.(?)" "p.(Phe382Leu)" "" "0000805496" "00000005" "30" "913" "-5" "913" "-5" "c.913-5T>C" "r.spl?" "p.?" "" "0000805497" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000829040" "00000005" "50" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000836770" "00000005" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000836771" "00000005" "70" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0000837203" "00000005" "90" "1199" "0" "1199" "0" "c.1199G>A" "r.[1199_2000ins1199+1_1199+17,1066_1199del]" "p.[Val400Lysfs,Tyr356fs]" "" "0000837204" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000837205" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000837206" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl?" "p.?" "" "0000837207" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000837208" "00000005" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232Ter)" "" "0000837209" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000837210" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000837211" "00000005" "90" "842" "2" "842" "2" "c.842+2T>A" "r.(?)" "p.(Ala282Thr)" "" "0000837212" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.1199_1200ins1199+538_1199+562" "p.Val400SerfsTer6" "" "0000837213" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Val400SerfsTer6)" "" "0000837214" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.(1065_1066ins1065+181_1065+261)" "p.?" "" "0000837215" "00000005" "90" "706" "368" "706" "368" "c.706+368T>C" "r.(706_707ins706+335_706+647)" "p.?" "" "0000837216" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Val400SerfsTer6)" "" "0000837217" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Val400SerfsTer6)" "" "0000837218" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Val400SerfsTer6)" "" "0000837219" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Val400SerfsTer6)" "" "0000843743" "00000005" "90" "23" "0" "23" "0" "c.23del" "r.(?)" "p.(Asn8Thrfs*30)" "1" "0000843744" "00000005" "90" "625" "0" "626" "0" "c.625_626insC" "r.(?)" "p.(Ile209Thrfs*6)" "6" "0000843745" "00000005" "70" "1315" "5" "1315" "6" "c.1315+5_1315+6insGTGTAACAG" "r.spl?" "P.?" "" "0000843881" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000843893" "00000005" "90" "791" "0" "791" "0" "c.791A>G" "r.(?)" "p.(His264Arg)" "" "0000843894" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843895" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843896" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843897" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843898" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843899" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843900" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843901" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843902" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843903" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843904" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843905" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843906" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843907" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843908" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843909" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843910" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843911" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843912" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843913" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843914" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843915" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843916" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000843917" "00000005" "90" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(His170Asp)" "" "0000843918" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000843919" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000843920" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000843921" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000843922" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000843923" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000843924" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000843925" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000843926" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000843927" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843928" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843929" "00000005" "90" "969" "6" "969" "6" "c.969+6T>A" "r.spl" "p.?" "" "0000843930" "00000005" "90" "969" "6" "969" "6" "c.969+6T>A" "r.spl" "p.?" "" "0000843931" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000843932" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000843933" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000843934" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000843935" "00000005" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0000843936" "00000005" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0000843937" "00000005" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0000843938" "00000005" "90" "1" "0" "1" "0" "c.1A>T" "r.(?)" "p.?" "" "0000843939" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000843940" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000843941" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000843942" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000843943" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000843944" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000843945" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000843946" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000843947" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000843948" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000843949" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000843950" "00000005" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000843951" "00000005" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000843952" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843953" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843954" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843955" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843956" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000843957" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000843958" "00000005" "90" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(His170Asp)" "" "0000843959" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000843960" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000843961" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000843962" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000843963" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000843964" "00000005" "90" "673" "0" "673" "0" "c.673C>A" "r.(?)" "p.(Pro225Thr)" "" "0000843965" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000843966" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000843967" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000843968" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000843969" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000843970" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000843971" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000843972" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000843973" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000843974" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000843975" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000843976" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000843977" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000843978" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000843979" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000843980" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000843981" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000843982" "00000005" "90" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Tyr277Cys)" "" "0000843983" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000843984" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000843985" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000843986" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000843987" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000843988" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000843989" "00000005" "90" "907" "0" "907" "0" "c.907T>G" "r.(?)" "p.(Ser303Ala)" "" "0000843990" "00000005" "90" "912" "0" "912" "0" "c.912G>A" "r.spl" "p.?" "" "0000843991" "00000005" "90" "941" "0" "941" "0" "c.941C>A" "r.(?)" "p.(Pro314His)" "" "0000843992" "00000005" "90" "969" "6" "969" "6" "c.969+6T>A" "r.spl" "p.?" "" "0000843993" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000843994" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000843995" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000843996" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000843997" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000843998" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000843999" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844000" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844001" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000844002" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000844003" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844004" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844005" "00000005" "90" "1127" "0" "1127" "0" "c.1127del" "r.(?)" "p.(Asn376IlefsTer24)" "" "0000844006" "00000005" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Tyr386Cys)" "" "0000844007" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000844008" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844009" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844010" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844011" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000844012" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844013" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000844014" "00000005" "90" "1315" "2" "1315" "2" "c.1315+2T>C" "r.spl" "p.?" "" "0000844015" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844016" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844017" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844018" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844019" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000844020" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000844021" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000844022" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000844023" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000844024" "00000005" "90" "673" "0" "673" "0" "c.673C>A" "r.(?)" "p.(Pro225Thr)" "" "0000844025" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000844026" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844027" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000844028" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000844029" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000844030" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000844031" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000844032" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000844033" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844034" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844035" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844036" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844037" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000844038" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000844039" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844040" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000844041" "00000005" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Tyr386Cys)" "" "0000844042" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000844043" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000844044" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844045" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000844046" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000844047" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000844048" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000844049" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000844050" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000844051" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844052" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000844053" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844054" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000844055" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000844056" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000844057" "00000005" "90" "791" "0" "791" "0" "c.791A>G" "r.(?)" "p.(His264Arg)" "" "0000844058" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844059" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844060" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844061" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844062" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000844063" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000844064" "00000005" "90" "830" "0" "830" "0" "c.830A>G" "r.(?)" "p.(Tyr277Cys)" "" "0000844065" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000844066" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844067" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000844068" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000844069" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844070" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844071" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000844072" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000844073" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844074" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000844075" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844076" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844077" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000844078" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844079" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844080" "00000005" "90" "1282" "0" "1282" "0" "c.1282C>T" "r.(?)" "p.(Gln428Ter)" "" "0000844081" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844082" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000844083" "00000005" "90" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(His170Asp)" "" "0000844084" "00000005" "90" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Pro)" "" "0000844085" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844086" "00000005" "90" "673" "0" "673" "0" "c.673C>A" "r.(?)" "p.(Pro225Thr)" "" "0000844087" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000844088" "00000005" "90" "1198" "0" "1198" "0" "c.1198A>C" "r.spl" "p.?" "" "0000844089" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000844090" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413His)" "" "0000844091" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844092" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000844093" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000844094" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000844095" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844096" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844097" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000844098" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000844099" "00000005" "90" "969" "6" "969" "6" "c.969+6T>C" "r.spl" "p.?" "" "0000844100" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844101" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000844102" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000844103" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0000844104" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000844105" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000844106" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000844107" "00000005" "90" "508" "0" "508" "0" "c.508C>G" "r.(?)" "p.(His170Asp)" "" "0000844108" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000853231" "00000005" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000862775" "00000005" "10" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Tyr414=)" "" "0000862776" "00000005" "50" "1187" "0" "1187" "0" "c.1187A>G" "r.(?)" "p.(Lys396Arg)" "" "0000862777" "00000005" "30" "609" "0" "609" "0" "c.609C>T" "r.(?)" "p.(Cys203=)" "" "0000881371" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000881372" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000881973" "00000005" "70" "1033" "0" "1033" "0" "c.1033G>A" "r.(?)" "p.(Ala345Thr)" "10" "0000881974" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.[(1065_1066ins1065+181_1065+261,=)]" "p.[(Gln355_Tyr356ins27,=)]" "10i" "0000881975" "00000005" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Tyr417Cys)" "12" "0000881976" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000881977" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356*)" "11" "0000881978" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000881979" "00000005" "90" "907" "0" "907" "0" "c.907del" "r.(?)" "p.(Ser303Profs*38)" "8" "0000881980" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000881981" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000881982" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000881983" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000881984" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000881985" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000881986" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000881987" "00000005" "90" "770" "0" "770" "0" "c.770G>T" "r.(?)" "p.(Gly257Val)" "7" "0000881988" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "10i" "0000881989" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.(=)" "p.(=)" "11" "0000881990" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.[(1065_1066ins1065+181_1065+261,=)]" "p.[(Gln355_Tyr356ins27,=)]" "10i" "0000881991" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000881992" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000881993" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "3" "0000881994" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000881995" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "3" "0000881996" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000881997" "00000005" "90" "740" "0" "740" "0" "c.740G>T" "r.(?)" "p.(Gly247Val)" "7" "0000881998" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000881999" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000882000" "00000005" "90" "706" "531" "706" "531" "c.706+531T>C" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882001" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356*)" "11" "0000882002" "00000005" "90" "706" "531" "706" "531" "c.706+531T>C" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882003" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000882004" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882005" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000882006" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882007" "00000005" "90" "706" "603" "706" "603" "c.706+603T>G" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882008" "00000005" "70" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000882009" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882010" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882029" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882030" "00000005" "90" "-3375" "0" "-179" "0" "c.-3375_-179del" "r.0?" "p.0?" "_1_1" "0000882031" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882032" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000882033" "00000005" "90" "975" "0" "975" "0" "c.975C>G" "r.(?)" "p.(Tyr325*)" "10" "0000882034" "00000005" "90" "706" "531" "706" "531" "c.706+531T>C" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882035" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "7" "0000882036" "00000005" "90" "706" "608" "706" "608" "c.706+608A>C" "r.[(706_707ins706+534_706+647|0.7,706_707ins706+335_706+647,=|0.2]" "p.[(Thr236ArgfsTer4,Thr236IlefsTer6,=)]" "6i" "0000882037" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882038" "00000005" "90" "1315" "6" "1315" "6" "c.1315+6T>A" "r.spl" "p.?" "" "0000882039" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882040" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "3" "0000882041" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882042" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000882043" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882044" "00000005" "70" "199" "0" "199" "0" "c.199T>C" "r.(?)" "p.(Ser67Pro)" "3" "0000882045" "00000005" "90" "706" "531" "706" "531" "c.706+531T>C" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882046" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000882047" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882048" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000882049" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882050" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356*)" "11" "0000882051" "00000005" "90" "706" "531" "706" "531" "c.706+531T>C" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882052" "00000005" "90" "724" "0" "724" "0" "c.724C>T" "r.(?)" "p.(Leu242Phe)" "7" "0000882053" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882054" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "12" "0000882055" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882056" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "7" "0000882057" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882058" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "12" "0000882059" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882060" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882061" "00000005" "90" "706" "531" "706" "531" "c.706+531T>C" "r.[(706_707ins706+534_706+647|0.7,=|0.3)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882062" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176*)" "6" "0000882063" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882064" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "12" "0000882065" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000882066" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882067" "00000005" "90" "1174" "0" "1174" "0" "c.1174T>A" "r.(?)" "p.(Phe392Ile)" "11" "0000882068" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882069" "00000005" "70" "605" "0" "605" "0" "c.605C>T" "r.(?)" "p.(Ala202Val)" "6" "0000882070" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882071" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882072" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "7" "0000882073" "00000005" "90" "1199" "0" "1199" "0" "c.1199G>C" "r.(?)" "p.(Arg400Thr)" "11" "0000882074" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882075" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000882076" "00000005" "90" "-3375" "0" "-179" "0" "c.-3375_-179del" "r.0?" "p.0?" "_1_1" "0000882077" "00000005" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "12" "0000882078" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000882079" "00000005" "90" "706" "608" "706" "608" "c.706+608A>C" "r.[(706_707ins706+534_706+647|0.7,706_707ins706+335_706+647,=|0.2]" "p.[(Thr236ArgfsTer4,Thr236IlefsTer6,=)]" "6i" "0000882080" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000882081" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356*)" "11" "0000882082" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000882083" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "7" "0000882084" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882085" "00000005" "90" "764" "0" "764" "0" "c.764T>C" "r.(?)" "p.(Leu255Ser)" "7" "0000882086" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882087" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "3" "0000882088" "00000005" "90" "1199" "745" "1199" "745" "c.1199+745T>A" "r.(1199_1200ins1199+538_1199+741)" "p.(Arg400SerfsTer7)" "11i" "0000882090" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "3" "0000882091" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882092" "00000005" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000882094" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882095" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "7" "0000882096" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882099" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882100" "00000005" "90" "706" "600" "706" "600" "c.706+600A>C" "r.[(706_707ins706+534_707-1|0.4,706_707ins706+534_706+647|0.4,=|0.1)]" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882101" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882102" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882106" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "12" "0000882107" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882108" "00000005" "70" "649" "0" "649" "0" "c.649T>C" "r.(?)" "p.(Cys217Arg)" "6" "0000882109" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882125" "00000005" "70" "3" "0" "3" "0" "c.3G>C" "r.?" "p.?" "1" "0000882126" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882127" "00000005" "50" "1066" "-12" "1066" "-12" "c.1066-12del" "r.spl?" "p.(=)" "" "0000882128" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882129" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882577" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>G" "r.(?)" "p.(Ser349Ala)" "10" "0000882578" "00000005" "90" "-3375" "0" "-179" "0" "c.-3375_-179del" "r.0?" "p.0?" "_1_1" "0000882579" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "2" "0000882580" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882581" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882582" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882583" "00000005" "90" "-3375" "0" "-179" "0" "c.-3375_-179del" "r.0?" "p.0?" "_1_1" "0000882584" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "7" "0000882585" "00000005" "90" "706" "535" "706" "535" "c.706+535G>T" "r.[(706_707ins 706+534_706+647|0.6,=|0.4)]" "p.[(Thr236Serfs∗4,=)]" "6i" "0000882586" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.(=)" "p.(=)" "11" "0000882587" "00000005" "90" "-3375" "0" "-179" "0" "c.-3375_-179del" "r.0?" "p.0?" "_1_1" "0000882588" "00000005" "70" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Asp84Gly)" "3" "0000882589" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882590" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "3" "0000882591" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882592" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "7" "0000882593" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882594" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000882595" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882596" "00000005" "90" "706" "519" "706" "519" "c.706+519T>C" "r.[(706_707ins706+534_706+647|0.6,=|0.4])" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882597" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "3" "0000882598" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882599" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "5" "0000882600" "00000005" "90" "510" "-1" "706" "1" "c.(509+1_510-1)_(706+1_707-1)del" "r.?" "p.?" "5i_6i" "0000882601" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000882602" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "3" "0000882603" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000882604" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000882605" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882606" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "7" "0000882607" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882608" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "7" "0000882609" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000882610" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882611" "00000005" "70" "937" "0" "937" "0" "c.937G>C" "r.(?)" "p.(Ala313Pro)" "9" "0000882612" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882613" "00000005" "90" "706" "519" "706" "519" "c.706+519T>C" "r.[(706_707ins706+534_706+647|0.6,=|0.4])" "p.[(Thr236ArgfsTer4,=)]" "6i" "0000882614" "00000005" "90" "-3375" "0" "-179" "0" "c.-3375_-179del" "r.0?" "p.0?" "_1_1" "0000882615" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000882616" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "3" "0000882617" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882618" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.(=)" "p.(=)" "11" "0000882619" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000882620" "00000005" "90" "1065" "241" "1065" "241" "c.1065+241C>A" "r.spl" "p.?" "" "0000882621" "00000005" "90" "940" "0" "940" "0" "c.940C>A" "r.(?)" "p.(Pro314Thr)" "9" "0000882622" "00000005" "90" "706" "288" "706" "288" "c.706+288T>G" "r.9706_707ins706+179_706+283)" "p.(Thr236ThrfsTer25)" "6i" "0000882623" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000882624" "00000005" "90" "509" "434" "509" "434" "c.509+434C>T" "r.[(509_510ins509+352_509+432|0.7,=|0.3)]" "p.[(His170GlnfsTer21,=)]" "5i" "0000882625" "00000005" "90" "466" "0" "466" "0" "c.466G>C" "r.(?)" "p.(Ala156Pro)" "5" "0000882626" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "12" "0000882627" "00000005" "90" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ala322Asp)" "9" "0000882628" "00000005" "90" "706" "608" "706" "608" "c.706+608A>C" "r.[(706_707ins706+534_706+647|0.7,706_707ins706+335_706+647,=|0.2]" "p.[(Thr236ArgfsTer4,Thr236IlefsTer6,=)]" "6i" "0000882629" "00000005" "90" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Tyr166*)" "5" "0000882630" "00000005" "90" "1065" "258" "1065" "258" "c.1065+258C>A" "r.[(1065_1066ins1065+181_1065+261|0.6,=|0.4)]" "p.[(Gln355_Tyr356insX[27],=)]" "" "0000882631" "00000005" "90" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Ile)" "7" "0000882632" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000882633" "00000005" "90" "47" "0" "48" "0" "c.47_48del" "r.(?)" "p.(Ser16*)" "1" "0000882634" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "7" "0000882635" "00000005" "90" "1199" "502" "1199" "502" "c.1199+502A>T" "r.(1199_1200ins1199+538_1199+562)" "p.(Arg400SerfsTer7)" "11i" "0000890231" "00000005" "30" "1242" "0" "1242" "0" "c.1242C>T" "r.(?)" "p.(Tyr414=)" "" "0000890232" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000890233" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000890234" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000890235" "00000005" "70" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000890236" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000890237" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000890238" "00000005" "70" "168" "5" "168" "5" "c.168+5G>C" "r.spl?" "p.?" "" "0000890239" "00000005" "70" "168" "1" "168" "1" "c.168+1G>T" "r.spl?" "p.?" "" "0000897037" "00000005" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "" "0000897039" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897040" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897041" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897042" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897043" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897044" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897045" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897046" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897047" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000897048" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897049" "00000005" "90" "" "0" "" "0" "c.-472_-406{0}" "r.0?" "p.0?" "" "0000897050" "00000005" "90" "" "0" "" "0" "c.-472_-406{0}" "r.0?" "p.0?" "" "0000897051" "00000005" "90" "682" "0" "682" "0" "c.682G>T" "r.(?)" "p.(Glu228Ter)" "" "0000897052" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000897053" "00000005" "90" "241" "0" "256" "0" "c.241_256del" "r.(?)" "p.(Thr81ValfsTer6)" "" "0000897054" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000897055" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.(842_843ins[gugaa;842+6_843-1])" "p.?" "" "0000897056" "00000005" "90" "" "0" "" "0" "c.-472_-406{0}" "r.0?" "p.0?" "" "0000897057" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000897058" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000897059" "00000005" "90" "" "0" "" "0" "c.-472_-406{0}" "r.0?" "p.0?" "" "0000897060" "00000005" "90" "" "0" "" "0" "c.-472_-406{0}" "r.0?" "p.0?" "" "0000897061" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000897062" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000897063" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Tyr356Ter)" "" "0000897064" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000897065" "00000005" "90" "456" "0" "463" "0" "c.456_463dup" "r.(?)" "p.(Arg155LeufsTer43)" "" "0000897066" "00000005" "90" "907" "0" "907" "0" "c.907del" "r.(?)" "p.(Ser303ProfsTer38)" "" "0000897067" "00000005" "90" "770" "0" "770" "0" "c.770G>T" "r.(?)" "p.(Gly257Val)" "" "0000897068" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897069" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897070" "00000005" "90" "770" "0" "770" "0" "c.770G>T" "r.(?)" "p.(Gly257Val)" "" "0000897071" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897072" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897073" "00000005" "90" "770" "0" "770" "0" "c.770G>T" "r.(?)" "p.(Gly257Val)" "" "0000897074" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897075" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897076" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897077" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897078" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897079" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897080" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897081" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897082" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897083" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897084" "00000005" "90" "935" "0" "935" "0" "c.935G>T" "r.(?)" "p.(Gly312Val)" "" "0000897085" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl" "p.?" "" "0000897086" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897087" "00000005" "90" "940" "0" "940" "0" "c.940A>C" "r.(?)" "p.(Pro314Thr)" "" "0000897088" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000897089" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000897090" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000897091" "00000005" "90" "1174" "0" "1174" "0" "c.1174T>A" "r.(?)" "p.(Phe392Ile)" "" "0000897092" "00000005" "90" "1174" "0" "1174" "0" "c.1174T>A" "r.(?)" "p.(Phe392Ile)" "" "0000897093" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897094" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897095" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897096" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897097" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897098" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897099" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897100" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897101" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897102" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897103" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897104" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897105" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897106" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897107" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897108" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897109" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897110" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897111" "00000005" "90" "856" "0" "856" "0" "c.856G>A" "r.(?)" "p.(Glu286Lys)" "" "0000897112" "00000005" "90" "569" "0" "569" "0" "c.569T>G" "r.(?)" "p.(Val190Gly)" "" "0000897113" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897114" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl" "p.?" "" "0000897115" "00000005" "90" "935" "0" "935" "0" "c.935G>T" "r.(?)" "p.(Gly312Val)" "" "0000897116" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000897117" "00000005" "90" "227" "0" "227" "0" "c.227A>G" "r.(?)" "p.(Glu76Gly)" "" "0000897118" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897119" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897120" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897121" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897122" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897123" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897124" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897125" "00000005" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000897126" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897127" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897128" "00000005" "90" "800" "0" "800" "0" "c.800A>G" "r.(?)" "p.(Gln267Arg)" "" "0000897129" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl" "p.?" "" "0000897130" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000897131" "00000005" "90" "935" "0" "935" "0" "c.935G>T" "r.(?)" "p.(Gly312Val)" "" "0000897132" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897133" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897134" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897135" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897136" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897137" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000897138" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897139" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897140" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000897141" "00000005" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "" "0000897142" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897143" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897144" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000897145" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897146" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl" "p.?" "" "0000897147" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000897148" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000897149" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000897150" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897151" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897152" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897153" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897154" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897155" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897156" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000897157" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000897158" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000897159" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897160" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897161" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897162" "00000005" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "" "0000897163" "00000005" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "" "0000897164" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000897165" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl" "p.?" "" "0000897166" "00000005" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "" "0000897167" "00000005" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "" "0000897168" "00000005" "30" "509" "15" "509" "18" "c.509+15_509+18del" "r.(=)" "p.(=)" "" "0000897177" "00000005" "10" "1155" "0" "1155" "0" "c.1155G>C" "r.(1155G>C)" "p.(Leu385=)" "" "0000897178" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r,(735g>a)" "p.(Val245=)" "" "0000897179" "00000005" "10" "696" "0" "696" "0" "c.696A>G" "r.(696a>g)" "p.(Gln232=)" "" "0000897180" "00000005" "10" "168" "19" "168" "19" "c.168+19T>C" "r.(=)" "p.(=)" "" "0000897181" "00000005" "10" "353" "-22" "353" "-22" "c.353-22T>C" "r.(=)" "p.(=)" "" "0000897182" "00000005" "10" "441" "47" "441" "47" "c.441+47C>T" "r.(=)" "p.(=)" "" "0000897183" "00000005" "10" "1065" "97" "1065" "97" "c.1065+97A>G" "r.(=)" "p.(=)" "" "0000897218" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897219" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000897220" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897221" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897222" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897223" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897224" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000897225" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897226" "00000005" "70" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" "0000897227" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000897228" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897229" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897230" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897231" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897232" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000897233" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897234" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897235" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897236" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897237" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000897238" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897239" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897240" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897241" "00000005" "90" "842" "4" "842" "4" "c.842+4A>G" "r.spl" "p.?" "" "0000897242" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897243" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897244" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897245" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897246" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897247" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897248" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897249" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897250" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897251" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897252" "00000005" "90" "735" "0" "735" "0" "c.735G>A" "p.Val245Ala" "p.(Val245=)" "" "0000897253" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897254" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897255" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897256" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000897257" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000897258" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897259" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897260" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000897261" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897262" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897263" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897264" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897265" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897266" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897267" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897268" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897269" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897270" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897271" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897272" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897273" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897274" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897275" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897276" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897277" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897278" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>T" "r.spl" "p.?" "" "0000897279" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897280" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897281" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897282" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897283" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897284" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897285" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897286" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897287" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897288" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897289" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897290" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897291" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897292" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897293" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897294" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000897295" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000897296" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897297" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897298" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897299" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897300" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897301" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000897302" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000897303" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000897304" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000897305" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897306" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "p.Glu390Gly" "p.(Glu390Gly)" "" "0000897307" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000897308" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897309" "00000005" "90" "673" "0" "673" "0" "c.673C>A" "r.(?)" "p.(Pro225Thr)" "" "0000897310" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000897311" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897312" "00000005" "90" "967" "0" "969" "0" "c.967_969del" "r.(?)" "p.(Thr323del)" "" "0000897313" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897314" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "p.Glu390Gly" "p.(Glu390Gly)" "" "0000897315" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897316" "00000005" "70" "676" "0" "676" "0" "c.676C>A" "r.(?)" "p.(Gln226Lys)" "" "0000897317" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897318" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897319" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897320" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897321" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000897322" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "p.Glu390Gly" "p.(Glu390Gly)" "" "0000897323" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000897324" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000897325" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000897326" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000897327" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>T" "r.spl" "p.?" "" "0000897328" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897329" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897330" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897331" "00000005" "90" "842" "4" "842" "4" "c.842+4A>G" "r.spl" "p.?" "" "0000897332" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897333" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>T" "r.spl" "p.?" "" "0000897334" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000897335" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000897336" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897337" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897338" "00000005" "90" "673" "0" "673" "0" "c.673C>A" "r.(?)" "p.(Pro225Thr)" "" "0000897339" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000897340" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897341" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897342" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl" "p.?" "" "0000897343" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897344" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897345" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897346" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897347" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897348" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897349" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897350" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897351" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897352" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897353" "00000005" "90" "509" "4140" "706" "510" "c.509+4140_706+510del" "r.510_706del" "p.Gly171LeuTer46" "" "0000897354" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>T" "r.spl" "p.?" "" "0000897355" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>T" "r.spl" "p.?" "" "0000897356" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000897357" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897358" "00000005" "90" "0" "0" "0" "0" "c.-473_-408{0}" "r.?" "p.?" "_1_1" "0000897360" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000897361" "00000005" "90" "1066" "-14" "1066" "-14" "c.1066-14C>G" "r.spl" "p.?" "10i" "0000897362" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000897363" "00000005" "90" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "7" "0000897364" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000897365" "00000005" "70" "604" "0" "604" "0" "c.604G>A" "r.(?)" "p.(Ala202Thr)" "6" "0000897366" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "4i" "0000897367" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "4i" "0000897368" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000897369" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "12" "0000897370" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000897371" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000897372" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "4i" "0000897373" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "6" "0000897374" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "4i" "0000897375" "00000005" "90" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Ile)" "7" "0000897376" "00000005" "90" "995" "0" "995" "0" "c.995G>A" "r.(?)" "p.(Gly332Glu)" "10" "0000897377" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" 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"p.(Arg243Ter)" "7" "0000897563" "00000005" "90" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "7" "0000897564" "00000005" "90" "833" "0" "833" "0" "c.833C>T" "r.(?)" "p.(Thr278Ile)" "7" "0000897565" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "8i" "0000897566" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "8i" "0000897567" "00000005" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ala309Asp)" "9" "0000897568" "00000005" "90" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Trp326Ter)" "10" "0000897569" "00000005" "90" "353" "-1" "509" "1" "c.(352+1_353-1)_(509+1_510-1)del" "r.?" "p.?" "3i_5i" "0000897570" "00000005" "90" "353" "-1" "509" "1" "c.(352+1_353-1)_(509+1_510-1)del" "r.?" "p.?" "3i_5i" "0000897571" "00000005" "90" "169" "-4939" "352" "1467" "c.169-4939_352+1467delinsGCACCTG" "r.?" "p.?" "2i_3i" "0000897572" "00000005" "90" "353" "-1" "842" "1" "c.(352+1_353-1)_(842+1_843-1)del" "r.?" "p.?" 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"p.(Cys29Ter)" "8" "0000897617" "00000005" "90" "890" "0" "890" "0" "c.890G>A" "r.(?)" "p.(Arg297His)" "8" "0000897618" "00000005" "90" "907" "0" "907" "0" "c.907T>C" "r.(?)" "p.(Ser303Pro)" "8" "0000897619" "00000005" "90" "910" "0" "910" "0" "c.910C>T" "r.(?)" "p.(Gln304Ter)" "8" "0000897620" "00000005" "90" "911" "0" "911" "0" "c.911A>G" "r.(?)" "p.(Gln304Arg)" "8" "0000897621" "00000005" "90" "925" "0" "925" "0" "c.925G>A" "r.(?)" "p.(Ala309Thr)" "9" "0000897622" "00000005" "90" "965" "0" "965" "0" "c.965C>A" "r.(?)" "p.(Ala322Asp)" "9" "0000897623" "00000005" "90" "969" "4" "969" "4" "c.969+4A>T" "r.spl" "p.?" "9i" "0000897624" "00000005" "90" "992" "0" "992" "0" "c.992T>C" "r.(?)" "p.(Phe331Ser)" "10" "0000897625" "00000005" "90" "1200" "-1" "1315" "1" "c.(1199+1_1200-1)_(1315+1_1316-1)dup" "r.?" "p.?" "11i_12i" "0000897626" "00000005" "90" "510" "-6708" "706" "888" "c.510-6708_706+888delinsGG" "r.?" "p.?" 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"p.(Arg408Trp)" "12" "0000897637" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "12" "0000897638" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "12" "0000897639" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "12" "0000897640" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897641" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897642" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897643" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897644" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897645" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897646" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" 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"p.(Ala403Val)" "12" "0000897818" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897819" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897820" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000897821" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "7" "0000897822" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "6" "0000897823" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "7" "0000897824" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "8" "0000897825" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "12" "0000897878" "00000005" "90" "169" "-4949" "352" "1467" "c.169-4949_352+1467delinsGGCACCTG" "r.?" "p.?" "2i_3i" "0000897879" "00000005" "90" "442" "-1463" "509" "257" "c.442-1463_509+257del" "r.(?)" "p.(Gly148Trpfs*29)" "4i_5i" "0000897880" "00000005" "90" "442" "-1463" "509" "257" "c.442-1463_509+257del" "r.?" "p.?" "4i_5i" "0000897881" "00000005" "90" "442" "-1463" "509" "257" "c.442-1463_509+257del" "r.?" "p.?" "" "0000897882" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000897883" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897884" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000897885" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000897886" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897887" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897888" "00000005" "90" "60" "5" "60" "5" "c.60+5G>A" "r.spl" "p.?" "" "0000897889" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000897890" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897891" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000897892" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198Serfs*136)" "" "0000897893" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000897894" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55Leufs*6)" "" "0000897895" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897896" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897897" "00000005" "90" "60" "5" "60" "5" "c.60+5G>A" "r.spl" "p.?" "" "0000897898" "00000005" "90" "608" "0" "608" "0" "c.608G>A" "r.(?)" "p.(Cys203Tyr)" "" "0000897899" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897900" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198Serfs*136)" "" "0000897901" "00000005" "90" "1118" "0" "1118" "0" "c.1118C>A" "r.(?)" "p.(Ala373Asp)" "" "0000897902" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897903" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55Leufs*6)" "" "0000897904" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000897905" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" "0000897906" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897907" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000897908" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897909" "00000005" "90" "442" "-4402" "509" "882" "c.442-4402_509+882del" "r.?" "p.?" "" "0000897910" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897911" "00000005" "90" "242" "0" "242" "0" "c.242C>A" "r.(?)" "p.(Thr81Asn)" "" "0000897912" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352Valfs*48)" "" "0000897913" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000897914" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000897915" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897916" "00000005" "90" "912" "0" "912" "0" "c.912G>A" "r.spl" "p.?" "" "0000897917" "00000005" "90" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Ile164Val)" "" "0000897918" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl" "p.?" "" "0000897919" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000897920" "00000005" "90" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Ile174Val)" "" "0000897921" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897922" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000897923" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897924" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000897925" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000897926" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352Valfs*48)" "" "0000897927" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897928" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl" "p.?" "" "0000897929" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000897930" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000897931" "00000005" "90" "805" "0" "805" "0" "c.805A>C" "r.(?)" "p.(Ile269Leu)" "" "0000897932" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897933" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897934" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000897935" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897936" "00000005" "90" "168" "5" "168" "5" "c.168+5G>A" "r.spl" "p.?" "" "0000897937" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352Valfs*48)" "" "0000897938" "00000005" "90" "1184" "0" "1184" "0" "c.1184C>G" "r.(?)" "p.(Ala395Gly)" "" "0000897939" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000897940" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000897941" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261*)" "" "0000897942" "00000005" "90" "842" "3" "842" "3" "c.842+3G>C" "r.spl" "p.?" "" "0000897943" "00000005" "90" "1199" "17" "1199" "17" "c.1199+17G>A" "r.spl" "p.?" "" "0000897944" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "" "0000897945" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000897946" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000897947" "00000005" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Pro211Hisfs*130)" "" "0000897948" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000897949" "00000005" "90" "510" "-734" "912" "433" "c.510-734_912+433del" "r.(?)" "p.(Gly171_Lys452delinsPheValSer)" "" "0000897950" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000897951" "00000005" "90" "209" "0" "209" "0" "c.209C>T" "r.(?)" "p.(Ser70Phe)" "" "0000897952" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000897953" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000897954" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55Leufs*6)" "" "0000897955" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000897956" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000897957" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897958" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000897959" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "" "0000897960" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000897961" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352Valfs*48)" "" "0000897962" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897963" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897964" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000897965" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000897966" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000897967" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897968" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000897969" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000897970" "00000005" "90" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Thr278Asn)" "" "0000897971" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000897972" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000897973" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000897974" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000897975" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000897976" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897977" "00000005" "90" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Ala313Val)" "" "0000897978" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000897979" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "" "0000897980" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000897981" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000897982" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000897983" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000897984" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000897985" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000897986" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000897987" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000897988" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000897989" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "" "0000897990" "00000005" "90" "1339" "0" "1339" "0" "c.1339G>C" "r.(?)" "p.(Ala447Pro)" "" "0000897991" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "" "0000897992" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000897993" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000897994" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000897995" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000897996" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000897997" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000897998" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000897999" "00000005" "90" "1012" "0" "1012" "0" "c.1012G>T" "r.(?)" "p.(Asp338Tyr)" "" "0000898000" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898001" "00000005" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asp129Gly)" "" "0000898002" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898003" "00000005" "90" "994" "0" "994" "0" "c.994G>A" "r.(?)" "p.(Gly332Arg)" "" "0000898004" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898005" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000898006" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000898007" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898008" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000898009" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000898010" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898011" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898012" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898013" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000898014" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898015" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898016" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898017" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898018" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000898019" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898020" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898021" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898022" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898023" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898024" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898025" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898026" "00000005" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000898027" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "" "0000898028" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898029" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898030" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000898031" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898032" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898033" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898034" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000898035" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000898036" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000898037" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898038" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000898039" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000898040" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898041" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898042" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898043" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898044" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898045" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898046" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898047" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898048" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898049" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898050" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898051" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000898052" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000898053" "00000005" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Pro281Ser)" "" "0000898054" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898055" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898056" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898057" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111*)" "" "0000898058" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898059" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898060" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000898061" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898062" "00000005" "90" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Ile164Val)" "" "0000898083" "00000005" "90" "169" "-655" "352" "3925" "c.169-655_352+3925del" "r.?" "p.?" "2i_3i" "0000898084" "00000005" "90" "442" "-102" "509" "781" "c.442-102_509+781del" "r.?" "p.?" "5i_6i" "0000898085" "00000005" "90" "442" "-2913" "509" "1173" "c.442-2913_509+1173delins[509+5537_510-5461;TG]" "r.?" "p.?" "5i_6i" "0000898096" "00000005" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" "0000898097" "00000005" "90" "0" "0" "0" "0" "-" "r.?" "p.?" "_1" "0000898098" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898099" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "3" "0000898100" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "3" "0000898101" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "4i" "0000898102" "00000005" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000898103" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898104" "00000005" "90" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Phe161Ser)" "5" "0000898105" "00000005" "90" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Tyr166Ter)" "5" "0000898106" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "6" "0000898107" "00000005" "90" "584" "0" "584" "0" "c.584dup" "r.(?)" "p.(Ser196ValfsTer4)" "6" "0000898108" "00000005" "90" "694" "0" "694" "0" "c.694C>T" "r.(?)" "p.(Gln232Ter)" "6" "0000898109" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "6" "0000898110" "00000005" "90" "722" "0" "722" "0" "c.722del" "r.(?)" "p.(Arg241ProfsTer100)" "7" "0000898111" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000898112" "00000005" "90" "740" "0" "740" "0" "c.740G>T" "r.(?)" "p.(Gly247Val)" "7" "0000898113" "00000005" "90" "764" "0" "764" "0" "c.764T>C" "r.(?)" "p.(Leu255Ser)" "7" "0000898114" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898115" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "7" "0000898116" "00000005" "90" "839" "0" "839" "0" "c.839A>G" "r.(?)" "p.(Glu280Gly)" "7" "0000898117" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "7" "0000898118" "00000005" "90" "912" "1" "912" "1" "c.912+1G>C" "r.spl" "p.?" "8i" "0000898119" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "8" "0000898120" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "10" "0000898121" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356Ter)" "11" "0000898122" "00000005" "90" "1197" "0" "1197" "0" "c.1197A>T" "r.spl" "p.?" "11" "0000898123" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "12" "0000898124" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "12" "0000898125" "00000005" "90" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "12" "0000898129" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "8i" "0000898130" "00000005" "90" "0" "0" "0" "0" "c.-473_*849{0}" "r.0" "p.0" "_1_13_" "0000898133" "00000005" "10" "1153" "0" "1153" "0" "c.1153C>T" "r.(?)" "p.(Leu385Phe)" "" "0000898135" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(=)" "p.(Val245=)" "" "0000898136" "00000005" "10" "353" "-22" "353" "-22" "c.353-22C>T" "r.(=)" "p.(=)" "3i" "0000898140" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898141" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898142" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898143" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898144" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898145" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898146" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898147" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898148" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898149" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898150" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>G" "r.(?)" "p.(Ser349Ala)" "" "0000898151" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>G" "r.(?)" "p.(Ser349Ala)" "" "0000898152" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898153" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898154" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898155" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898156" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898157" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898158" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898159" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898160" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898161" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898162" "00000005" "90" "1065" "1" "1065" "1" "c.1065+1G>A" "r.spl" "p.?" "" "0000898163" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898164" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898165" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898166" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898167" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898168" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898169" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898170" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898171" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898172" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898173" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898174" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898175" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898176" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898177" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898178" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898179" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898180" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898181" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898182" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898183" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898184" "00000005" "90" "1066" "-2" "1066" "-2" "c.1066-2A>T" "r.spl" "p.?" "" "0000898185" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000898186" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Tyr356Ter)" "" "0000898187" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000898188" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000898189" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000898190" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000898191" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000898192" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898193" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898194" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898195" "00000005" "90" "1163" "0" "1163" "0" "c.1163T>C" "r.(?)" "p.(Val388Ala)" "" "0000898196" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898197" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898198" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000898199" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000898200" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000898201" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000898202" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898203" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898204" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898205" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898206" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898207" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898208" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898209" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898210" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898211" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898212" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898213" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898214" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898215" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898216" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898217" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898218" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898219" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898220" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000898221" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000898222" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898223" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898224" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898225" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898226" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000898227" "00000005" "90" "1249" "0" "1249" "0" "c.1249T>A" "r.(?)" "p.(Tyr417Asn)" "" "0000898228" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898229" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898230" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898231" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898232" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898233" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898234" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898235" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898236" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898237" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898238" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898239" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898240" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898241" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898242" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898243" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898244" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000898245" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Leu52CysfsTer9)" "" "0000898246" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000898247" "00000005" "90" "164" "0" "164" "0" "c.164T>C" "r.(?)" "p.(Phe55Ser)" "" "0000898248" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898249" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898250" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898251" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898252" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898253" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898254" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000898255" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000898256" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000898257" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000898258" "00000005" "90" "169" "0" "169" "0" "c.169G>T" "r.(?)" "p.(Glu57Ter)" "" "0000898259" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898260" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898261" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898262" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898263" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898264" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898265" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898266" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898267" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898268" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898269" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898270" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898271" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898272" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898273" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898274" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898275" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898276" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898277" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898278" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898279" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898280" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898281" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898282" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898283" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898284" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898285" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898286" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898287" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898288" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898289" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898290" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898291" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898292" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898293" "00000005" "90" "196" "0" "196" "0" "c.196G>T" "r.(?)" "p.(Glu66Ter)" "" "0000898294" "00000005" "90" "1" "0" "1" "0" "c.1A>G" "r.(?)" "p.(Met1?)" "" "0000898295" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898296" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898297" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898298" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898299" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898300" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898301" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898302" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898303" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898304" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898305" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898306" "00000005" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000898307" "00000005" "90" "266" "0" "266" "0" "c.266dup" "r.(?)" "p.(Ala90CysfsTer12)" "" "0000898308" "00000005" "90" "284" "0" "286" "0" "c.284_286del" "r.(?)" "p.(Ile95del)" "" "0000898309" "00000005" "90" "284" "0" "286" "0" "c.284_286del" "r.(?)" "p.(Ile95del)" "" "0000898310" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000898311" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000898312" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000898313" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000898314" "00000005" "90" "434" "0" "434" "0" "c.434A>T" "r.(?)" "p.(Asp145Val)" "" "0000898315" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898316" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898317" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898318" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898319" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898320" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898321" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898322" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898323" "00000005" "90" "442" "-2" "442" "-2" "c.442-2A>C" "r.spl" "p.?" "" "0000898324" "00000005" "90" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Arg155Pro)" "" "0000898325" "00000005" "90" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Arg155Pro)" "" "0000898326" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000898327" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0000898328" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898329" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898330" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898331" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898332" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898333" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898334" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898335" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898336" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898337" "00000005" "90" "473" "0" "473" "0" "c.473G>T" "r.(?)" "p.(Arg158Leu)" "" "0000898338" "00000005" "90" "491" "0" "491" "0" "c.491T>C" "r.(?)" "p.(Ile164Thr)" "" "0000898339" "00000005" "90" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "" "0000898340" "00000005" "90" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "" "0000898341" "00000005" "90" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Ala165Pro)" "" "0000898342" "00000005" "90" "500" "0" "500" "0" "c.500A>T" "r.(?)" "p.(Asn167Ile)" "" "0000898343" "00000005" "90" "504" "0" "504" "0" "c.504C>A" "r.(?)" "p.(Tyr168Ter)" "" "0000898344" "00000005" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000898345" "00000005" "90" "509" "1" "509" "1" "c.509+1G>A" "r.spl" "p.?" "" "0000898346" "00000005" "90" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Val177Leu)" "" "0000898347" "00000005" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Val190Ala)" "" "0000898348" "00000005" "90" "580" "0" "581" "0" "c.580_581del" "r.(?)" "p.(Leu194GlufsTer5)" "" "0000898349" "00000005" "90" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000898350" "00000005" "90" "593" "0" "614" "0" "c.593_614del" "r.(?)" "p.(Tyr198CysfsTer136)" "" "0000898351" "00000005" "90" "60" "5" "60" "5" "c.60+5G>A" "r.spl" "p.?" "" "0000898352" "00000005" "90" "60" "0" "60" "0" "c.60G>C" "r.(?)" "p.(Gln20His)" "" "0000898353" "00000005" "90" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000898354" "00000005" "90" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000898355" "00000005" "90" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000898356" "00000005" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Pro211HisfsTer130)" "" "0000898357" "00000005" "90" "635" "0" "635" "0" "c.635T>C" "r.(?)" "p.(Leu212Pro)" "" "0000898358" "00000005" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "" "0000898359" "00000005" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "" "0000898360" "00000005" "90" "648" "0" "648" "0" "c.648C>G" "r.(?)" "p.(Tyr216Ter)" "" "0000898361" "00000005" "90" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "" "0000898362" "00000005" "90" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "" "0000898363" "00000005" "90" "664" "0" "665" "0" "c.664_665del" "r.(?)" "p.(Asp222Ter)" "" "0000898364" "00000005" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "0000898365" "00000005" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "0000898366" "00000005" "90" "682" "0" "682" "0" "c.682G>A" "r.(?)" "p.(Glu228Lys)" "" "0000898367" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000898368" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000898369" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000898370" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000898371" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000898372" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000898373" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898374" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898375" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898376" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898377" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898378" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898379" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898380" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898381" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898382" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898383" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898384" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000898385" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000898386" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898387" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898388" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898389" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898390" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898391" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898392" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898393" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898394" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000898395" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000898396" "00000005" "90" "770" "0" "770" "0" "c.770G>A" "r.(?)" "p.(Gly257Asp)" "" "0000898397" "00000005" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000898398" "00000005" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000898399" "00000005" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000898400" "00000005" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000898401" "00000005" "90" "776" "0" "776" "0" "c.776C>T" "r.(?)" "p.(Ala259Val)" "" "0000898402" "00000005" "90" "781" "0" "781" "0" "c.781C>G" "r.(?)" "p.(Arg261Gly)" "" "0000898403" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000898404" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000898405" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000898406" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898407" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898408" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898409" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898410" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898411" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898412" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898413" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898414" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898415" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898416" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898417" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898418" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898419" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898420" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898421" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898422" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898423" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898424" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898425" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898426" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898427" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898428" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898429" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898430" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898431" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898432" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898433" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898434" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898435" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898436" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898437" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898438" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898439" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898440" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898441" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898442" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000898443" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000898444" "00000005" "90" "812" "0" "812" "0" "c.812A>G" "r.(?)" "p.(His271Arg)" "" "0000898445" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898446" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898447" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898448" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898449" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898450" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898451" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898452" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898453" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000898454" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000898455" "00000005" "90" "833" "0" "833" "0" "c.833C>A" "r.(?)" "p.(Thr278Asn)" "" "0000898456" "00000005" "90" "837" "0" "837" "0" "c.837del" "r.(?)" "p.(Glu280AsnfsTer61)" "" "0000898457" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898458" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898459" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898460" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898461" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898462" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898463" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898464" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898465" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898466" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898467" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898468" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898469" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898470" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898471" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898472" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898473" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898474" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898475" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898476" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898477" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898478" "00000005" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Pro281Ser)" "" "0000898479" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000898480" "00000005" "90" "842" "3" "842" "3" "c.842+3G>C" "r.spl" "p.?" "" "0000898481" "00000005" "90" "842" "3" "842" "3" "c.842+3G>C" "r.spl" "p.?" "" "0000898482" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898483" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898484" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898485" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898486" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898487" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898488" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898489" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898490" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898491" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898492" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898493" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898494" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898495" "00000005" "90" "887" "0" "887" "0" "c.887A>G" "r.(?)" "p.(Asp296Gly)" "" "0000898496" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000898497" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000898498" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898499" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898500" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898501" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898502" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898503" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898504" "00000005" "90" "912" "2" "912" "2" "c.912+2T>C" "r.spl" "p.?" "" "0000898505" "00000005" "90" "913" "-8" "913" "-8" "c.913-8A>G" "r.spl" "p.?" "" "0000898506" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898507" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898508" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898509" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000898510" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898511" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898512" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898513" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000898514" "00000005" "90" "442" "-1" "509" "1" "c.(441+1_442-1)_(509+1_510-1)del" "r.?" "p.?" "" "0000898515" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898516" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898517" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898518" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898519" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898520" "00000005" "90" "1196" "0" "1196" "0" "c.1196T>C" "r.(?)" "p.(Val399Ala)" "" "0000898521" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000898522" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000898523" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000898524" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898525" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000898526" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898527" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898528" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898529" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898530" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898531" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898532" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898533" "00000005" "90" "510" "-1" "706" "1" "c.(509+1_510-1)_(706+1_707-1)dup" "r.?" "p.?" "" "0000898534" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898535" "00000005" "90" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Asp394Tyr)" "" "0000898536" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898537" "00000005" "90" "" "0" "" "0" "c.-473_(60+1_61-1){0}" "r.0?" "p.0?" "" "0000898538" "00000005" "90" "1180" "0" "1180" "0" "c.1180G>T" "r.(?)" "p.(Asp394Tyr)" "" "0000898539" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898540" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898541" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898542" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898543" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000898544" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898545" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898546" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898547" "00000005" "90" "785" "0" "785" "0" "c.785T>G" "r.(?)" "p.(Val262Gly)" "" "0000898548" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898549" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898550" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898551" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898552" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000898553" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898554" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898555" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898556" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898557" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898558" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898559" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898560" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898561" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898562" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898563" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898564" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898565" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898566" "00000005" "90" "169" "-1" "352" "1" "c.(168+1_169-1)_(352+1_353-1)del" "r.?" "p.?" "" "0000898567" "00000005" "90" "169" "-1" "352" "1" "c.(168+1_169-1)_(352+1_353-1)del" "r.?" "p.?" "" "0000898568" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898569" "00000005" "90" "" "0" "" "0" "c.-473_(60+1_61-1){0}" "r.0?" "p.0?" "" "0000898570" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898571" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898572" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898573" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898574" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898575" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898576" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898577" "00000005" "90" "155" "0" "155" "0" "c.155del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000898578" "00000005" "90" "442" "-1" "509" "1" "c.(441+1_442-1)_(509+1_510-1)del" "r.?" "p.?" "" "0000898579" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000898580" "00000005" "90" "547" "0" "548" "0" "c.547_548delinsTT" "r.(?)" "p.(Glu183Leu)" "" "0000898581" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898582" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898583" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000898584" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898585" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898586" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898587" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898588" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898589" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898590" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898591" "00000005" "90" "" "0" "" "0" "c.-473_(60+1_61-1){0}" "r.0?" "p.0?" "" "0000898592" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898593" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898594" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000898595" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898596" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898597" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898598" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898599" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898600" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898601" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898602" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898603" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898604" "00000005" "90" "1171" "0" "1171" "0" "c.1171A>G" "r.(?)" "p.(Ser391Gly)" "" "0000898605" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898606" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898607" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898608" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898609" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898610" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898611" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000898612" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000898613" "00000005" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asp129Gly)" "" "0000898614" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898615" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000898616" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898617" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898618" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898619" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000898620" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000898621" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898622" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000898623" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898624" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898625" "00000005" "90" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Asp282Asn)" "" "0000898626" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898627" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898628" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000898629" "00000005" "90" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Pro)" "" "0000898630" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898631" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898632" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898633" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898634" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898635" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898636" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898637" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898638" "00000005" "90" "398" "0" "401" "0" "c.398_401del" "r.(?)" "p.(Asn133ArgfsTer61)" "" "0000898639" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000898640" "00000005" "90" "707" "-7" "707" "-7" "c.707-7A>T" "r.spl" "p.?" "" "0000898641" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000898642" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898643" "00000005" "90" "1065" "1" "1065" "1" "c.1065+1G>A" "r.spl" "p.?" "" "0000898644" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898645" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000898646" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000898647" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898648" "00000005" "90" "442" "-5" "442" "-5" "c.442-5C>G" "r.spl" "p.?" "" "0000898649" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898650" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898651" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898652" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>G" "r.(?)" "p.(Ser349Ala)" "" "0000898653" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898654" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898655" "00000005" "90" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000898656" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898657" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898658" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898659" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000898660" "00000005" "90" "510" "-1" "706" "1" "c.(509+1_510-1)_(706+1_707-1)del" "r.?" "p.?" "" "0000898661" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000898662" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898663" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898664" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898665" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898666" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898667" "00000005" "90" "169" "-1" "352" "1" "c.(168+1_169-1)_(352+1_353-1)del" "r.?" "p.?" "" "0000898668" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000898669" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898670" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000898671" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898672" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898673" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898674" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898675" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000898676" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "" "0000898677" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "" "0000898678" "00000005" "90" "796" "0" "796" "0" "c.796A>C" "r.(?)" "p.(Thr266Pro)" "" "0000898679" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898680" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898681" "00000005" "90" "969" "1" "969" "1" "c.969+1G>A" "r.spl" "p.?" "" "0000898682" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898683" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000898684" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898685" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898686" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898687" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898688" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898689" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000898690" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898691" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898692" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "" "0000898693" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898694" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898695" "00000005" "90" "931" "0" "932" "0" "c.931_932del" "r.(?)" "p.(Leu311GlyfsTer4)" "" "0000898696" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898697" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898698" "00000005" "90" "838" "0" "842" "3" "c.838_842+3del" "r.spl" "p.?" "" "0000898699" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000898700" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898701" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898702" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000898703" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898704" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898705" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898706" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898707" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898708" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898709" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000898710" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898711" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898712" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>G" "r.(?)" "p.(Ser349Ala)" "" "0000898713" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898714" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898715" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898716" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898717" "00000005" "90" "838" "0" "842" "3" "c.838_842+3del" "r.spl" "p.?" "" "0000898718" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898719" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898720" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898721" "00000005" "90" "932" "0" "932" "0" "c.932T>C" "r.(?)" "p.(Leu311Pro)" "" "0000898722" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898723" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898724" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898725" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898726" "00000005" "90" "" "0" "" "0" "c.(969+1_970-1)_*849{0}" "r.?" "p.?" "" "0000898727" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000898728" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898729" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000898730" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898731" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898732" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898733" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898734" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898735" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898736" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898737" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Tyr356Ter)" "" "0000898738" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898739" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898740" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898741" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898742" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898743" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898744" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898745" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898746" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898747" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898748" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898749" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898750" "00000005" "90" "510" "-1" "706" "1" "c.(509+1_510-1)_(706+1_707-1)del" "r.?" "p.?" "" "0000898751" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000898752" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898753" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000898754" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000898755" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000898756" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000898757" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000898758" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898759" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898760" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898761" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898762" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898763" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898764" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000898765" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898766" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000898767" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898768" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898769" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898770" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898771" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898772" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898773" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898774" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898775" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000898776" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000898777" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000898778" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898779" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000898780" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000898781" "00000005" "90" "869" "0" "869" "0" "c.869A>T" "r.(?)" "p.(His290Leu)" "" "0000898782" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898783" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898784" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898785" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898786" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898787" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898788" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898789" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898790" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000898791" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898792" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898793" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898794" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000898795" "00000005" "90" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000898796" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898797" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000898798" "00000005" "90" "169" "-1" "352" "1" "c.(168+1_169-1)_(352+1_353-1)del" "r.?" "p.?" "" "0000898799" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000898800" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000898801" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898802" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898803" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000898804" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898805" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000898806" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000898868" "00000005" "90" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Asp129Tyr)" "4" "0000898869" "00000005" "90" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Asp129Tyr)" "4" "0000898870" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898871" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898872" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898873" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898874" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898875" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898876" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898877" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898878" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898879" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898880" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898881" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898882" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0000898883" "00000005" "90" "168" "5" "168" "5" "c.168+5G>A" "r.spl" "p.?" "2i" "0000898884" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "4i" "0000898885" "00000005" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "7" "0000898886" "00000005" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "7" "0000898887" "00000005" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "7" "0000898888" "00000005" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "7" "0000898889" "00000005" "90" "1229" "0" "1229" "0" "c.1229T>G" "r.(?)" "p.(Phe410Cys)" "12" "0000898890" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "6" "0000898891" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "6" "0000898892" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "7" "0000898893" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898894" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898895" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898896" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898897" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898898" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000898899" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "7" "0000898900" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "7" "0000898901" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "7" "0000898902" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898903" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898904" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898905" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898906" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898907" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898908" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898909" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898910" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898911" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898912" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898913" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898914" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898915" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898916" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898917" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898918" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "7" "0000898919" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "11" "0000898920" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "11" "0000898921" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "11" "0000898922" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "11" "0000898923" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "11" "0000898924" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "3" "0000898925" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "7" "0000898926" "00000005" "90" "809" "0" "809" "0" "c.809G>A" "r.(?)" "p.(Arg270Lys)" "7" "0000898927" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "2" "0000898928" "00000005" "90" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "2" "0000898929" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "2" "0000898930" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "2" "0000898931" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "2" "0000898932" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "2" "0000898933" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "2" "0000898934" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "10" "0000898935" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "2" "0000898936" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "2" "0000898937" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898938" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898939" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898940" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898941" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898942" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898943" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "3" "0000898944" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" 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"p.(Pro281Leu)" "7" "0000899239" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "7" "0000899240" "00000005" "90" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Asp129Tyr)" "4" "0000899241" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000899242" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000899243" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "12" "0000899244" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "12i" "0000899245" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "8" "0000899246" "00000005" "90" "938" "0" "938" "0" "c.938C>T" "r.(?)" "p.(Ala313Val)" "9" "0000899247" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "12" "0000899248" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "8" "0000903299" "00000005" "10" "-71" "0" "-71" "0" "c.-71A>C" "r.(=)" "p.?" "1" "0000903300" "00000005" "10" "60" "62" "60" "62" "c.60+62C>T" "r.(=)" "p.?" "1i" "0000903301" "00000005" "10" "168" "19" "168" "19" "c.168+19T>C" "r.(=)" "p.?" "2i" "0000903302" "00000005" "10" "353" "-22" "353" "-22" "c.353-22C>T" "r.(=)" "p.?" "3i" "0000903303" "00000005" "10" "441" "47" "441" "47" "c.441+47C>T" "r.(=)" "p.?" "4i" "0000903304" "00000005" "10" "509" "101" "509" "101" "c.509+101A>C" "r.(=)" "p.?" "5i" "0000903305" "00000005" "10" "510" "-54" "510" "-54" "c.510-54G>A" "r.(=)" "p.?" "5i" "0000903306" "00000005" "10" "696" "0" "696" "0" "c.696A>G" "r.(=)" "p.(Gln232=)" "6" "0000903307" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(=)" "p.(Val245=)" "7" "0000903308" "00000005" "10" "969" "43" "969" "43" "c.969+43G>T" "r.(=)" "p.?" "9i" "0000903309" "00000005" "10" "1065" "97" "1065" "97" "c.1065+97G>T" "r.(=)" "p.?" "10i" "0000903310" "00000005" "10" "1155" "0" "1155" "0" "c.1155C>G" "r.(=)" "p.(Leu385=)" "11" "0000903311" "00000005" "10" "1316" "-35" "1316" "-35" "c.1316-35C>T" "r.(=)" "p.?" "12i" "0000903312" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903313" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903314" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000903315" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903316" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903317" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903318" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903319" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903320" "00000005" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "0000903321" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903322" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903323" "00000005" "90" "441" "1" "441" "1" "c.441+1G>A" "r.spl" "p.?" "" "0000903324" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903325" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903326" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903327" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903328" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903329" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903330" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903331" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903332" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903333" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000903334" "00000005" "90" "970" "-1" "970" "-1" "c.970-1G>T" "r.spl" "p.?" "9i" "0000903335" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903336" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903337" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903338" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903339" "00000005" "50" "603" "0" "603" "0" "c.603T>G" "r.(?)" "p.(His201Gln)" "" "0000903340" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903341" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903342" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903343" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903344" "00000005" "90" "842" "0" "842" "0" "c.842C>G" "r.(?)" "p.(Pro281Arg)" "" "0000903345" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903346" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903347" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903348" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903349" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903350" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000903351" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903352" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903353" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903354" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903355" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903356" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903357" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903358" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903359" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903360" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903361" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903362" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000903363" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356Ter)" "" "0000903364" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903365" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903366" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903367" "00000005" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "0000903368" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903369" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903370" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903371" "00000005" "90" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" "0000903372" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000903373" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903374" "00000005" "90" "970" "-1" "970" "-1" "c.970-1G>T" "r.spl" "p.?" "9i" "0000903375" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903376" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903377" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903378" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903379" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903380" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903381" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903382" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903383" "00000005" "90" "441" "1" "441" "1" "c.441+1G>A" "r.spl" "p.?" "" "0000903384" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903385" "00000005" "90" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Asp112His)" "3" "0000903386" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903387" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903388" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903389" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903390" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903391" "00000005" "90" "707" "-96" "707" "-96" "c.707-96G>A" "r.spl" "p.?" "" "0000903392" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903393" "00000005" "90" "169" "-1" "169" "-1" "c.169-1G>A" "r.spl" "p.?" "2i" "0000903394" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000903395" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903396" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903397" "00000005" "90" "740" "0" "740" "0" "c.740G>A" "r.(?)" "p.(Gly247Asp)" "" "0000903398" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903399" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903400" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903401" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903402" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000903403" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903404" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903405" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903406" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903407" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903408" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903409" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903410" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903411" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903412" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903413" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903414" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903415" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903416" "00000005" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Pro211HisfsTer130)" "" "0000903417" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903418" "00000005" "90" "1200" "-2" "1200" "-2" "c.1200-2A>G" "r.spl" "p.?" "" "0000903419" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903420" "00000005" "90" "848" "0" "848" "0" "c.848T>A" "r.(?)" "p.(Ile283Asn)" "" "0000903421" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903422" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903423" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903424" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903425" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903426" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903427" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903428" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903429" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000903430" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903431" "00000005" "90" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Ser350Tyr)" "" "0000903432" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903433" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903434" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903435" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903436" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903437" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903438" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903439" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903440" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903441" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903442" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903443" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903444" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903445" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903446" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903447" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903448" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903449" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903450" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903451" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903452" "00000005" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ala309Asp)" "" "0000903453" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903454" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903455" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903456" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903457" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903458" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000903459" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903460" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903461" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903462" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903463" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903464" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903465" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903466" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903467" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903468" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903469" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903470" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903471" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903472" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903473" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903474" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903475" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903476" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903477" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903478" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903479" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903480" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903481" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903482" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903483" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903484" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903485" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903486" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903487" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000903488" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000903489" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903490" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903491" "00000005" "90" "638" "0" "638" "0" "c.638T>C" "r.(?)" "p.(Leu213Pro)" "" "0000903492" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903493" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903494" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903495" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903496" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903497" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903498" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903499" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903500" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903501" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903502" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903503" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903504" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903505" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903506" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903507" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903508" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903509" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903510" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903511" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903512" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903513" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903514" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903515" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903516" "00000005" "90" "1103" "0" "1106" "0" "c.1103_1106dup" "r.(?)" "p.(Glu370AlafsTer25)" "11" "0000903517" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903518" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903519" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903520" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903521" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903522" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903523" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903524" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903525" "00000005" "90" "1066" "-2" "1066" "-2" "c.1066-2A>G" "r.spl" "p.?" "10i" "0000903526" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903527" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903528" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903529" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903530" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903531" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903532" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903533" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903534" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356Ter)" "" "0000903535" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903536" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903537" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000903538" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903539" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903540" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903541" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903542" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903543" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000903544" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903545" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903546" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903547" "00000005" "90" "969" "5" "969" "5" "c.969+5G>C" "r.spl" "p.?" "9i" "0000903548" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903549" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903550" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903551" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903552" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903553" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903554" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903555" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903556" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903557" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000903558" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903559" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903560" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903561" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903562" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903563" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903564" "00000005" "50" "169" "-13" "169" "-13" "c.169-13T>G" "r.spl" "p.?" "" "0000903565" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903566" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903567" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903568" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903569" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903570" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903571" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "" "0000903572" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903573" "00000005" "90" "602" "0" "602" "0" "c.602A>G" "r.(?)" "p.(His201Arg)" "" "0000903574" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903575" "00000005" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000903576" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903577" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903578" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903579" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903580" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000903581" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903582" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000903583" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903584" "00000005" "50" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Tyr417Cys)" "" "0000903585" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903586" "00000005" "90" "329" "0" "329" "0" "c.329C>T" "r.(?)" "p.(Ser110Leu)" "" "0000903587" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903588" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903589" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903590" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903591" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903592" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903593" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903594" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903595" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903596" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903597" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903598" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903599" "00000005" "90" "441" "1" "441" "1" "c.441+1G>C" "r.spl" "p.?" "" "0000903600" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000903601" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903602" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903603" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903604" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903605" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903606" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903607" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903608" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903609" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903610" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903611" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903612" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903613" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903614" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903615" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903616" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000903617" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903618" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903619" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903620" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903621" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903622" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903623" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903624" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903625" "00000005" "50" "1066" "-14" "1066" "-14" "c.1066-14C>G" "r.spl?" "p.?" "" "0000903626" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903627" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000903628" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903629" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903630" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903631" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903632" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903633" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903634" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903635" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903636" "00000005" "90" "169" "-1" "169" "-1" "c.169-1G>A" "r.spl" "p.?" "2i" "0000903637" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903638" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903639" "00000005" "90" "353" "-1" "353" "-1" "c.353-1G>A" "r.spl" "p.?" "" "0000903640" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903641" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903642" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000903643" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903644" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903645" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>A" "r.(?)" "p.(Arg413His)" "" "0000903646" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903647" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903648" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903649" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903650" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903651" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000903652" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903653" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903654" "00000005" "90" "689" "0" "689" "0" "c.689T>C" "r.(?)" "p.(Val230Ala)" "" "0000903655" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903656" "00000005" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ala309Asp)" "" "0000903657" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903658" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903659" "00000005" "90" "801" "0" "801" "0" "c.801G>T" "r.(?)" "p.(Gln267His)" "7" "0000903660" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903661" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903662" "00000005" "90" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Asp112His)" "3" "0000903663" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903664" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903665" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903666" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903667" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000903668" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903669" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903670" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903671" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903672" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903673" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000903674" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903675" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903676" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903677" "00000005" "90" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Tyr179His)" "" "0000903678" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903679" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903680" "00000005" "90" "558" "0" "559" "0" "c.558_559del" "r.(?)" "p.(Trp187GlyfsTer12)" "" "0000903681" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903682" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903683" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903684" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903685" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903686" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903687" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903688" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903689" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903690" "00000005" "90" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" "0000903691" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903692" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903693" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000903694" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903695" "00000005" "90" "842" "0" "842" "0" "c.842C>G" "r.(?)" "p.(Pro281Arg)" "" "0000903696" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903697" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903698" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903699" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000903700" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000903701" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903702" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903703" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903704" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000903705" "00000005" "90" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Ser350Tyr)" "" "0000903706" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903707" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903708" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000903709" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903710" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903711" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903712" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903713" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903714" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903715" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903716" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903717" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000903718" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903719" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903720" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903721" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903722" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903723" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903724" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903725" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903726" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903727" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903728" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000903729" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903730" "00000005" "90" "1218" "0" "1218" "0" "c.1218A>G" "r.(?)" "p.(Ile406Met)" "" "0000903731" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903732" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903733" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903734" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903735" "00000005" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000903736" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903737" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903738" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903739" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000903740" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903741" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903742" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903743" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903744" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903745" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903746" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000903747" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903748" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903749" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903750" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903751" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903752" "00000005" "90" "592" "0" "592" "0" "c.592T>G" "r.(?)" "p.(Tyr198Asp)" "6" "0000903753" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903754" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903755" "00000005" "90" "969" "5" "969" "5" "c.969+5G>C" "r.spl" "p.?" "9i" "0000903756" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903757" "00000005" "90" "707" "-96" "707" "-96" "c.707-96G>A" "r.spl" "p.?" "" "0000903758" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903759" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903760" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903761" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903762" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903763" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903764" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000903765" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903766" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903767" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903768" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903769" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903770" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903771" "00000005" "90" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Ser350Tyr)" "" "0000903772" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903773" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000903774" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903775" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "" "0000903776" "00000005" "90" "441" "1" "441" "1" "c.441+1G>A" "r.spl" "p.?" "" "0000903777" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903778" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903779" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903780" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903781" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903782" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903783" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903784" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903785" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903786" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903787" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903788" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903789" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903790" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903791" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903792" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903793" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903794" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903795" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903796" "00000005" "90" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Asp84Tyr)" "" "0000903797" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000903798" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903799" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903800" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903801" "00000005" "50" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000903802" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903803" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903804" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903805" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903806" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000903807" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903808" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903809" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000903810" "00000005" "50" "305" "0" "305" "0" "c.305T>C" "r.(?)" "p.(Ile102Thr)" "" "0000903811" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903812" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903813" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903814" "00000005" "90" "1199" "-3" "1199" "-3" "c.1199-3T>A" "r.spl" "p.?" "" "0000903815" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903816" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903817" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000903818" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903819" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903820" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903821" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903822" "00000005" "90" "506" "0" "506" "0" "c.506del" "r.(?)" "p.(Arg169ProfsTer26)" "5" "0000903823" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903824" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903825" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000903826" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903827" "00000005" "50" "169" "-13" "169" "-13" "c.169-13T>G" "r.spl" "p.?" "" "0000903828" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903829" "00000005" "90" "1028" "0" "1028" "0" "c.1028A>G" "r.(?)" "p.(Tyr343Cys)" "" "0000903830" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903831" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903832" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000903833" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903834" "00000005" "90" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000903835" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903836" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903837" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903838" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903839" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000903840" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903841" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903842" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903843" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903844" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903845" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903846" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903847" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903848" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903849" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903850" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903851" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903852" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903853" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903854" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000903855" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903856" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903857" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903858" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903859" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903860" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903861" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903862" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903863" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903864" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903865" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000903866" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903867" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000903868" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903869" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903870" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903871" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903872" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903873" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903874" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903875" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000903876" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903877" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903878" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903879" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903880" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903881" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903882" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903883" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903884" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903885" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903886" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000903887" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903888" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903889" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903890" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000903891" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903892" "00000005" "90" "842" "0" "842" "0" "c.842C>G" "r.(?)" "p.(Pro281Arg)" "" "0000903893" "00000005" "50" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000903894" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903895" "00000005" "90" "632" "0" "632" "0" "c.632del" "r.(?)" "p.(Pro211HisfsTer130)" "" "0000903896" "00000005" "90" "1250" "0" "1250" "0" "c.1250A>G" "r.(?)" "p.(Tyr417Cys)" "" "0000903897" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000903898" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903899" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903900" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903901" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903902" "00000005" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ser231Phe)" "" "0000903903" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903904" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903905" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903906" "00000005" "90" "803" "0" "803" "0" "c.803A>G" "r.(?)" "p.(Tyr268Cys)" "" "0000903907" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903908" "00000005" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000903909" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903910" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903911" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903912" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903913" "00000005" "90" "970" "-1" "970" "-1" "c.970-1G>T" "r.spl" "p.?" "9i" "0000903914" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903915" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903916" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903917" "00000005" "90" "1247" "0" "1247" "0" "c.1247del" "r.(?)" "p.(Pro416HisfsTer36)" "12" "0000903918" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903919" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903920" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903921" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903922" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903923" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903924" "00000005" "90" "1028" "0" "1028" "0" "c.1028A>G" "r.(?)" "p.(Tyr343Cys)" "" "0000903925" "00000005" "90" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000903926" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903927" "00000005" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "0000903928" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000903929" "00000005" "90" "581" "0" "581" "0" "c.581T>C" "r.(?)" "p.(Leu194Pro)" "" "0000903930" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000903931" "00000005" "90" "" "0" "" "0" "c.(-473_-405)_(352+33_370){0}" "r.0?" "p.0?" "_1_3i" "0000903932" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903933" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903934" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000903935" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000903936" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903937" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903938" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903939" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903940" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903941" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903942" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903943" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903944" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000903945" "00000005" "90" "1199" "-3" "1199" "-3" "c.1199-3T>A" "r.spl" "p.?" "" "0000903946" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000903947" "00000005" "90" "671" "0" "671" "0" "c.671T>C" "r.(?)" "p.(Ile224Thr)" "" "0000903948" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903949" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903950" "00000005" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Tyr386Cys)" "" "0000903951" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903952" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903953" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000903954" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903955" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000903956" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "" "0000903957" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903958" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903959" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903960" "00000005" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ala309Asp)" "" "0000903961" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000903962" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903963" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903964" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000903965" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903966" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000903967" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000903968" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903969" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903970" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903971" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000903972" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903973" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000903974" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903975" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903976" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000903977" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903978" "00000005" "90" "1177" "0" "1178" "0" "c.1177_1178insT" "r.(?)" "p.(Asn393IlefsTer2)" "" "0000903979" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000903980" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000903981" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903982" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000903983" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000903984" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903985" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000903986" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000903987" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903988" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000903989" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000903990" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>A" "r.(?)" "p.(Tyr356Ter)" "" "0000903991" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000903992" "00000005" "90" "1049" "0" "1049" "0" "c.1049C>A" "r.(?)" "p.(Ser350Tyr)" "" "0000903993" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000903994" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000903995" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000903996" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000903997" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000903998" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000903999" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904000" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904001" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904002" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904003" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000904004" "00000005" "50" "169" "-13" "169" "-13" "c.169-13T>G" "r.spl" "p.?" "" "0000904005" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904006" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904007" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904008" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904009" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904010" "00000005" "90" "773" "0" "773" "0" "c.773T>G" "r.(?)" "p.(Leu258Arg)" "7" "0000904011" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904012" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904013" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904014" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904015" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000904016" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904017" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000904018" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000904019" "00000005" "90" "1253" "0" "1253" "0" "c.1253C>A" "r.(?)" "p.(Thr418Asn)" "" "0000904020" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904021" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904022" "00000005" "90" "334" "0" "334" "0" "c.334G>C" "r.(?)" "p.(Asp112His)" "3" "0000904023" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000904024" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904025" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904026" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000904027" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000904028" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904029" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000904030" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904031" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000904032" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904033" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904034" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904035" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000904036" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904037" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904038" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904039" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000904040" "00000005" "90" "1199" "1" "1199" "1" "c.1199+1G>C" "r.spl" "p.?" "" "0000904041" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904042" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904043" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000904044" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904045" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904046" "00000005" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000904047" "00000005" "90" "650" "0" "650" "0" "c.650G>T" "r.(?)" "p.(Cys217Phe)" "6" "0000904048" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904049" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904050" "00000005" "90" "1069" "0" "1069" "0" "c.1069T>C" "r.(?)" "p.(Cys357Arg)" "" "0000904051" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000904052" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904053" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "" "0000904054" "00000005" "50" "452" "0" "452" "0" "c.452A>G" "r.(?)" "p.(Asp151Gly)" "" "0000904055" "00000005" "90" "208" "0" "208" "0" "c.208T>C" "r.(?)" "p.(Ser70Pro)" "" "0000904056" "00000005" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ala309Asp)" "" "0000904057" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "" "0000904058" "00000005" "90" "1114" "0" "1114" "0" "c.1114A>T" "r.(?)" "p.(Thr372Ser)" "" "0000904059" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904060" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904061" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904062" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904063" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904064" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904065" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000904066" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904067" "00000005" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000904068" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000904069" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904070" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "" "0000904071" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904072" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000904073" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000904074" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904075" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000904076" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904077" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904078" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000904079" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904080" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904081" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904082" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000904083" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000904084" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000904085" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000904086" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000904087" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000904088" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000904089" "00000005" "90" "843" "-5" "843" "-5" "c.843-5T>C" "r.spl" "p.?" "" "0000904090" "00000005" "90" "441" "1" "441" "1" "c.441+1G>C" "r.spl" "p.?" "" "0000904091" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000904092" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000904093" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904094" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904095" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904096" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000904097" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904098" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904099" "00000005" "90" "691" "0" "691" "0" "c.691T>C" "r.(?)" "p.(Ser231Pro)" "" "0000904100" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904101" "00000005" "90" "2" "0" "2" "0" "c.2T>C" "r.(?)" "p.(Met1?)" "1" "0000904102" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>A" "r.spl" "p.?" "" "0000904103" "00000005" "90" "707" "-1" "707" "-1" "c.707-1G>C" "r.spl" "p.?" "6i" "0000904104" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904105" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000904106" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000904107" "00000005" "90" "169" "-201" "352" "33" "c.(168+73_169-201)_(352+33_370)del" "r.?" "p.?" "2i_3i" "0000904108" "00000005" "90" "969" "5" "969" "5" "c.969+5G>A" "r.spl" "p.?" "9i" "0000904109" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904110" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904125" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.[1200_1315del,1066_1315del]" "p.[Asn401Ter,Tyr356ValfsTer13]" "12i" "0000904126" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.611_706del" "p.Tyr204_Thr236delinsSer" "6" "0000904127" "00000005" "10" "611" "0" "611" "0" "c.611A>G" "-" "p.Tyr204Cys" "6" "0000904128" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904129" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904130" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904131" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904132" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904133" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904134" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904135" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904136" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904137" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904138" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904139" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904140" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904141" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904142" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904143" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904144" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904145" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904146" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904147" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904148" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904149" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904150" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904151" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904152" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904153" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904154" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904155" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904156" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904157" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904158" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904159" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904160" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904161" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904162" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904163" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904164" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904165" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904166" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904167" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904168" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904169" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904170" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904171" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904172" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904173" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904174" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904175" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904176" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904177" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904178" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904179" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904180" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904181" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904182" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904183" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904184" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904185" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904186" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904187" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904188" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904189" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904190" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904191" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904192" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904193" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904194" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904195" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904196" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904197" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904198" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904199" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904200" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904201" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904202" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904203" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904204" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904205" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904206" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904207" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904208" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904209" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904210" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904211" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904212" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904213" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904214" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904215" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904216" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904217" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904218" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904219" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904220" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904221" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904222" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904223" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904224" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904225" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904226" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904227" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904228" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904229" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904230" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904231" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904232" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904233" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904234" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904235" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Tyr356Ter)" "" "0000904236" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904237" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904238" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904239" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904240" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904241" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904242" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904243" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904244" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904245" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904246" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904247" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904248" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904249" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904250" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904251" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904252" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904253" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904254" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904255" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904256" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904257" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904258" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904259" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904260" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904261" "00000005" "90" "775" "0" "775" "0" "c.775G>A" "r.(?)" "p.(Ala259Thr)" "" "0000904262" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000904263" "00000005" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000904264" "00000005" "90" "611" "0" "611" "0" "c.611A>G" "r.spl" "p.?" "" "0000904265" "00000005" "90" "509" "0" "509" "0" "c.509A>G" "r.(?)" "p.(His170Arg)" "" "0000904266" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904267" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904268" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904269" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904270" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904271" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904272" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904273" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904274" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904275" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904276" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904277" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904278" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904279" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904280" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904281" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904282" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904283" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904284" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000904285" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904286" "00000005" "90" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Asp143Gly)" "" "0000904287" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904288" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904289" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904290" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904291" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904292" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904293" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904294" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904295" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904296" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904297" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904298" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904299" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904300" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904301" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904302" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904303" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904304" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904305" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904306" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904307" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904308" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904309" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904310" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904311" "00000005" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000904312" "00000005" "90" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "" "0000904313" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904314" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>G" "r.(?)" "p.(Tyr356Ter)" "" "0000904315" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904316" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904317" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904318" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000904319" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904320" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904321" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904322" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000904323" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904324" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904336" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904337" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904338" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904339" "00000005" "90" "653" "0" "653" "0" "c.653G>T" "r.(?)" "p.(Gly218Val)" "" "0000904340" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000904341" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904342" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904343" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904344" "00000005" "90" "442" "-6" "442" "-6" "c.442-6T>A" "r.spl" "p.?" "" "0000904345" "00000005" "90" "1196" "0" "1199" "0" "c.1196_1199del" "r.spl?" "p.(Val399GlyfsTer52)" "" "0000904346" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904347" "00000005" "90" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Val177Leu)" "" "0000904348" "00000005" "90" "168" "1" "168" "1" "c.168+1G>A" "r.spl" "p.?" "" "0000904349" "00000005" "90" "745" "0" "745" "0" "c.745C>T" "r.(?)" "p.(Leu249Phe)" "" "0000904350" "00000005" "90" "889" "0" "889" "0" "c.889C>T" "r.(?)" "p.(Arg297Cys)" "" "0000904363" "00000005" "10" "168" "19" "168" "19" "c.168+19T>C" "r.(?)" "p.?" "2i" "0000904364" "00000005" "10" "353" "-22" "353" "-22" "c.353-22C>T" "r.(?)" "p.?" "3i" "0000904365" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(?)" "p.(Val245=)" "7" "0000904366" "00000005" "10" "696" "0" "696" "0" "c.696G>A" "r.(?)" "p.(Gln232=)" "6" "0000904367" "00000005" "10" "1155" "0" "1155" "0" "c.1155C>G" "r.(?)" "p.(Leu385=)" "11" "0000904368" "00000005" "10" "1316" "-35" "1316" "-35" "c.1316-35C>T" "r.(?)" "p.?" "12i" "0000904377" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904378" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904379" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904380" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904381" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904382" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904383" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904384" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904385" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904386" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904387" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904388" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904389" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904390" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904391" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904392" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904393" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904394" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904395" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904396" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904397" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904398" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904399" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904400" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904401" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904402" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904403" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904404" "00000005" "90" "822" "0" "832" "0" "c.822_832del" "r.(?)" "p.(Lys274AsnfsTer5)" "" "0000904405" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904406" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904407" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904408" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904409" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904410" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904411" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904412" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904413" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904414" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904415" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904416" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904417" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904418" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904419" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904420" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904421" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904422" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904423" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904424" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904425" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904426" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904427" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904428" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904429" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904430" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904431" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904432" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904433" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904434" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904435" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904436" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904437" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904438" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904439" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904440" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904441" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904442" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904443" "00000005" "90" "822" "0" "832" "0" "c.822_832del" "r.(?)" "p.(Lys274AsnfsTer5)" "" "0000904444" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904445" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904446" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904447" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904448" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904449" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904450" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904451" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904452" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl?" "p.?" "" "0000904453" "00000005" "90" "1269" "0" "1269" "0" "c.1269del" "r.(?)" "p.(Leu424TrpfsTer28)" "" "0000904454" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904455" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904456" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904457" "00000005" "90" "353" "-1" "353" "-1" "c.353-1G>A" "r.spl" "p.?" "" "0000904458" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904459" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904460" "00000005" "90" "47" "0" "48" "0" "c.47_48del" "r.(?)" "p.(Ser16Ter)" "" "0000904461" "00000005" "90" "822" "0" "832" "0" "c.822_832del" "r.(?)" "p.(Lys274AsnfsTer5)" "" "0000904462" "00000005" "90" "822" "0" "832" "0" "c.822_832del" "r.(?)" "p.(Lys274AsnfsTer5)" "" "0000904463" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.(?)" "p.?" "" "0000904464" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904465" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000904466" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904467" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904468" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904469" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000904470" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000904471" "00000005" "90" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Tyr166Ter)" "" "0000904472" "00000005" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Tyr386Cys)" "" "0000904473" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904506" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000904507" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904508" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904509" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904510" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904511" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904512" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904513" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904514" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904515" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904516" "00000005" "90" "168" "5" "168" "5" "c.168+5G>A" "r.spl" "p.?" "" "0000904517" "00000005" "90" "773" "0" "773" "0" "c.773T>C" "r.(?)" "p.(Leu258Pro)" "" "0000904518" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000904519" "00000005" "90" "612" "0" "612" "0" "c.612T>G" "r.(?)" "p.(Tyr204Ter)" "" "0000904520" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904521" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904522" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904523" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904524" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904525" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904526" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904527" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904528" "00000005" "90" "463" "0" "463" "0" "c.463C>T" "r.(?)" "p.(Arg155Cys)" "" "0000904529" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904530" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904531" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904532" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904533" "00000005" "90" "196" "0" "196" "0" "c.196G>A" "r.(?)" "p.(Glu66Lys)" "" "0000904534" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904535" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000904536" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904537" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904538" "00000005" "90" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.(Cys217Gly)" "" "0000904539" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904540" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000904541" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000904542" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904543" "00000005" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000904544" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904545" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904546" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904547" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904548" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904549" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904550" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904551" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904552" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904553" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904554" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904555" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904556" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904557" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904558" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904559" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904560" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000904561" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904562" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904563" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904564" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904565" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904566" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904567" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904568" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904569" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904570" "00000005" "90" "612" "0" "612" "0" "c.612T>G" "r.(?)" "p.(Tyr204Ter)" "" "0000904571" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000904572" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000904573" "00000005" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000904574" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904575" "00000005" "90" "612" "0" "612" "0" "c.612T>G" "r.(?)" "p.(Tyr204Ter)" "" "0000904576" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904577" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904578" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904579" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904580" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904581" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904582" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904583" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904584" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904585" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904586" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904587" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904588" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904589" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904590" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904591" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904592" "00000005" "90" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000904593" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904594" "00000005" "90" "140" "0" "140" "0" "c.140C>T" "r.(?)" "p.(Ala47Val)" "" "0000904595" "00000005" "90" "649" "0" "649" "0" "c.649T>G" "r.(?)" "p.(Cys217Gly)" "" "0000904596" "00000005" "90" "433" "0" "433" "0" "c.433G>A" "r.(?)" "p.(Asp145Asn)" "" "0000904597" "00000005" "90" "434" "0" "434" "0" "c.434A>T" "r.(?)" "p.(Asp145Val)" "" "0000904598" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000904599" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000904600" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000904601" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000904602" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904603" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000904604" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000904605" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000904606" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904607" "00000005" "90" "865" "0" "865" "0" "c.865G>C" "r.(?)" "p.(Gly289Arg)" "" "0000904608" "00000005" "90" "1262" "0" "1262" "0" "c.1262T>C" "r.(?)" "p.(Ile421Thr)" "" "0000904609" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904610" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000904611" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904612" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904613" "00000005" "90" "442" "-5" "442" "-5" "c.442-5C>G" "r.spl" "p.?" "" "0000904614" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904615" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000904616" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000904617" "00000005" "90" "3" "0" "3" "0" "c.3G>A" "r.(?)" "p.(Met1?)" "" "0000904618" "00000005" "90" "" "0" "" "0" "c.1314-1315+4del" "r.spl" "p.?" "" "0000904619" "00000005" "90" "364" "0" "364" "0" "c.364C>T" "r.(?)" "p.(Pro122Ser)" "" "0000904620" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904621" "00000005" "90" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(Pro362Thr)" "" "0000904622" "00000005" "90" "58" "0" "58" "0" "c.58C>T" "r.(?)" "p.(Gln20Ter)" "" "0000904623" "00000005" "90" "912" "0" "912" "0" "c.912G>A" "r.spl" "p.?" "" "0000904624" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904625" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000904626" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000904627" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904628" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904629" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000904630" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904631" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904632" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000904633" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904634" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904635" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904636" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904637" "00000005" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000904638" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000904639" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000904640" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000904641" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904642" "00000005" "90" "593" "0" "614" "0" "c.593_614del" "r.(?)" "p.(Tyr198CysfsTer136)" "" "0000904643" "00000005" "90" "612" "0" "612" "0" "c.612T>G" "r.(?)" "p.(Tyr204Ter)" "" "0000904644" "00000005" "90" "618" "0" "618" "0" "c.618C>G" "r.(?)" "p.(Tyr206Ter)" "" "0000904645" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904646" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0000904647" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904648" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904649" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000904650" "00000005" "90" "824" "0" "824" "0" "c.824C>G" "r.(?)" "p.(Pro275Arg)" "" "0000904651" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904652" "00000005" "90" "755" "0" "755" "0" "c.755G>A" "r.(?)" "p.(Arg252Gln)" "" "0000904653" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000904654" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904655" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904656" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904657" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904658" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904659" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904660" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904661" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904662" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904663" "00000005" "90" "865" "0" "865" "0" "c.865G>C" "r.(?)" "p.(Gly289Arg)" "" "0000904664" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904665" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904666" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904667" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904668" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904669" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904670" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904671" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904672" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000904673" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904674" "00000005" "90" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Asn61Lys)" "" "0000904675" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904676" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904677" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000904678" "00000005" "90" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000904679" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904680" "00000005" "90" "782" "0" "782" "0" "c.782G>C" "r.(?)" "p.(Arg261Pro)" "" "0000904681" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000904682" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904683" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904684" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904685" "00000005" "90" "912" "0" "912" "0" "c.912G>A" "r.spl" "p.?" "" "0000904686" "00000005" "90" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(Pro362Thr)" "" "0000904687" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000904688" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904689" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904690" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904691" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904692" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904693" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904694" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904695" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904696" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904697" "00000005" "90" "912" "0" "912" "0" "c.912G>A" "r.spl" "p.?" "" "0000904698" "00000005" "90" "912" "0" "912" "0" "c.912G>A" "r.spl" "p.?" "" "0000904699" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904700" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904701" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904702" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904703" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904704" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904705" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904706" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904707" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000904708" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904709" "00000005" "90" "204" "0" "204" "0" "c.204A>T" "r.(?)" "p.(Arg68Ser)" "" "0000904710" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243*)" "" "0000904711" "00000005" "70" "1223" "0" "1223" "0" "c.1223G>T" "r.(?)" "p.(Arg408Leu)" "" "0000904712" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198Serfs*136)" "" "0000904713" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.0" "p.0" "" "0000904714" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352Valfs*48)" "" "0000904715" "00000005" "90" "1117" "0" "1118" "0" "c.1117_1118del" "r.(?)" "p.(Ala373Hisfs*20)" "" "0000904716" "00000005" "90" "1220" "0" "1220" "0" "c.1220del" "r.(?)" "p.(Pro407Leufs*45)" "" "0000904890" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904891" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904892" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904893" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000904894" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904895" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000904896" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000904897" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904898" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000904899" "00000005" "90" "822" "0" "832" "0" "c.822_832del" "r.(?)" "p.(Lys274AsnfsTer5)" "" "0000904900" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000904901" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000904902" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000904903" "00000005" "90" "204" "0" "204" "0" "c.204A>Y" "r.(?)" "p.(Arg68Ser)" "" "0000904904" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000904905" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904906" "00000005" "90" "168" "5" "168" "5" "c.168+5G>A" "r.spl" "p.?" "_1" "0000904907" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "_1" "0000904908" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "_1" "0000904909" "00000005" "90" "1066" "-3" "1066" "-3" "c.1066-3C>T" "r.spl" "p.?" "_1" "0000904910" "00000005" "90" "1183" "0" "1183" "0" "c.1183G>C" "r.(?)" "p.(Ala395Pro)" "" "0000904911" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000904912" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000904913" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000904914" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000904915" "00000005" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Ala246ValfsTer95)" "" "0000904916" "00000005" "90" "1157" "0" "1157" "0" "c.1157A>G" "r.(?)" "p.(Tyr386Cys)" "" "0000904917" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904918" "00000005" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000904919" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000904920" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl" "p.?" "" "0000904921" "00000005" "90" "441" "5" "441" "5" "c.441+5G>C" "r.spl" "p.?" "" "0000904922" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000904923" "00000005" "90" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0000904924" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000904925" "00000005" "90" "896" "0" "896" "0" "c.896T>G" "r.(?)" "p.(Phe299Cys)" "" "0000904926" "00000005" "90" "838" "0" "838" "0" "c.838G>A" "r.(?)" "p.(Glu280Lys)" "" "0000904927" "00000005" "90" "250" "0" "250" "0" "c.250G>T" "r.(?)" "p.(Asp84Tyr)" "" "0000904928" "00000005" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Ala246ValfsTer95)" "" "0000904929" "00000005" "90" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000904930" "00000005" "90" "1159" "0" "1159" "0" "c.1159T>C" "r.(?)" "p.(Tyr387His)" "" "0000904931" "00000005" "90" "1068" "0" "1068" "0" "c.1068C>R" "r.(?)" "p.(Tyr356Ter)" "" "0000904932" "00000005" "90" "974" "0" "974" "0" "c.974A>G" "r.(?)" "p.(Tyr325Cys)" "" "0000904933" "00000005" "90" "829" "0" "829" "0" "c.829T>G" "r.(?)" "p.(Tyr277Asp)" "" "0000904934" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904935" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000904936" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000904937" "00000005" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Val190Ala)" "" "0000904938" "00000005" "90" "1357" "0" "1361" "0" "c.1357_*2del" "r.(?)" "p.(Ter453ProextTer33)" "" "0000904939" "00000005" "90" "692" "0" "692" "0" "c.692C>T" "r.(?)" "p.(Ser231Phe)" "" "0000904940" "00000005" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000904941" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000904942" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000904943" "00000005" "90" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Arg155Pro)" "" "0000904944" "00000005" "90" "59" "0" "59" "0" "c.59A>T" "r.(?)" "p.(Gln20Leu)" "" "0000904945" "00000005" "90" "631" "0" "631" "0" "c.631C>A" "r.(?)" "p.(Pro211Thr)" "" "0000904946" "00000005" "90" "500" "0" "500" "0" "c.500A>T" "r.(?)" "p.(Asn167Ile)" "" "0000904947" "00000005" "90" "122" "0" "122" "0" "c.122T>C" "r.(?)" "p.(Leu41Pro)" "" "0000904948" "00000005" "90" "969" "1" "969" "1" "c.969+1G>A" "r.spl" "p.?" "" "0000904949" "00000005" "90" "1065" "1" "1065" "1" "c.1065+1G>A" "r.spl" "p.?" "" "0000904950" "00000005" "90" "281" "0" "281" "0" "c.281T>G" "r.(?)" "p.(Ile94Ser)" "" "0000904951" "00000005" "90" "284" "0" "286" "0" "c.284_286del" "r.(?)" "p.(Ile95del)" "" "0000904952" "00000005" "90" "847" "0" "847" "0" "c.847A>T" "r.(?)" "p.(Ile283Phe)" "" "0000904953" "00000005" "90" "136" "0" "136" "0" "c.136G>A" "r.(?)" "p.(Gly46Ser)" "" "0000904954" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000904955" "00000005" "90" "1031" "0" "1031" "0" "c.1031G>T" "r.(?)" "p.(Gly344Val)" "" "0000904956" "00000005" "90" "1030" "0" "1030" "0" "c.1030G>C" "r.(?)" "p.(Gly344Arg)" "" "0000904957" "00000005" "90" "442" "0" "442" "0" "c.442G>A" "r.(?)" "p.(Gly148Ser)" "" "0000904958" "00000005" "90" "1229" "0" "1229" "0" "c.1229T>C" "r.(?)" "p.(Phe410Ser)" "" "0000904959" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000904960" "00000005" "90" "990" "0" "990" "0" "c.990G>Y" "r.(?)" "p.(Glu330Asp)" "" "0000904961" "00000005" "90" "838" "0" "842" "3" "c.838_842+3del" "r.spl" "p.?" "" "0000904962" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000904963" "00000005" "90" "926" "0" "926" "0" "c.926C>A" "r.(?)" "p.(Ala309Asp)" "" "0000904964" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000904965" "00000005" "90" "2" "0" "2" "0" "c.2T>G" "r.(?)" "p.(Met1?)" "" "0000904966" "00000005" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Ala246ValfsTer95)" "" "0000904967" "00000005" "90" "737" "0" "737" "0" "c.737del" "r.(?)" "p.(Ala246ValfsTer95)" "" "0000904968" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904969" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904970" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000904971" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000904972" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000904973" "00000005" "90" "822" "0" "832" "0" "c.822_832del" "r.(?)" "p.(Lys274AsnfsTer5)" "" "0000904974" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904975" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904976" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904977" "00000005" "50" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Glu183Gln)" "" "0000904978" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904979" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904980" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000904981" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000904982" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000904983" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904984" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904985" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904986" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904987" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904988" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904989" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904990" "00000005" "90" "502" "0" "502" "0" "c.502T>C" "r.(?)" "p.(Tyr168His)" "" "0000904991" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000904992" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904993" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000904994" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904995" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000904996" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000904997" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000904998" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000904999" "00000005" "90" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0000905000" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000905001" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000905002" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000905003" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000905004" "00000005" "90" "168" "5" "168" "5" "c.168+5G>A" "r.spl" "p.?" "" "0000905005" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000905006" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000905007" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000905008" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000905009" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000905010" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905011" "00000005" "90" "168" "5" "168" "5" "c.168+5G>A" "r.spl" "p.?" "" "0000905012" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905013" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000905014" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000905015" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000905016" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905017" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000905018" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000905019" "00000005" "90" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0000905020" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000905021" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000905022" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905023" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000905024" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000905025" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000905026" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000905027" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905028" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000905029" "00000005" "90" "365" "0" "365" "0" "c.365C>A" "r.(?)" "p.(Pro122Gln)" "" "0000905030" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000905031" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0000905032" "00000005" "90" "814" "0" "814" "0" "c.814G>T" "r.(?)" "p.(Gly272Ter)" "" "0000905033" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905034" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000905035" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0000905036" "00000005" "90" "365" "0" "365" "0" "c.365C>A" "r.(?)" "p.(Pro122Gln)" "" "0000905037" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000905038" "00000005" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Pro281Ser)" "" "0000905039" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000905040" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000905041" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000905042" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000905043" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000905044" "00000005" "90" "913" "-7" "913" "-7" "c.913-7A>G" "r.spl" "p.?" "" "0000905045" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0000905046" "00000005" "90" "1163" "0" "1164" "0" "c.1163_1164del" "r.(?)" "p.(Val388GlyfsTer5)" "" "0000905047" "00000005" "90" "837" "0" "837" "0" "c.837del" "r.(?)" "p.(Glu280AsnfsTer61)" "" "0000905048" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000905049" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000905050" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000905051" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000905052" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000905053" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0000905054" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000905055" "00000005" "90" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(Pro362Thr)" "" "0000905056" "00000005" "90" "823" "0" "823" "0" "c.823C>T" "r.(?)" "p.(Pro275Ser)" "" "0000905057" "00000005" "90" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(Pro362Thr)" "" "0000905058" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000905059" "00000005" "90" "1084" "0" "1084" "0" "c.1084C>A" "r.(?)" "p.(Pro362Thr)" "" "0000905060" "00000005" "90" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "" "0000905061" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905062" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905063" "00000005" "90" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0000905064" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0000905065" "00000005" "90" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0000905066" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905067" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905068" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905069" "00000005" "90" "665" "0" "665" "0" "c.665A>G" "r.(?)" "p.(Asp222Gly)" "" "0000905070" "00000005" "90" "1055" "0" "1055" "0" "c.1055del" "r.(?)" "p.(Gly352ValfsTer48)" "" "0000905071" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000905072" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000905073" "00000005" "90" "781" "0" "781" "0" "c.781C>T" "r.(?)" "p.(Arg261Ter)" "" "0000905074" "00000005" "90" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Asp)" "" "0000905075" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905076" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000905077" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000905078" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000905079" "00000005" "90" "842" "1" "842" "1" "c.842+1G>A" "r.spl" "p.?" "" "0000905080" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000905081" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000905082" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000905083" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000905084" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000905085" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000905086" "00000005" "90" "841" "0" "841" "0" "c.841C>T" "r.(?)" "p.(Pro281Ser)" "" "0000905087" "00000005" "90" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0000905088" "00000005" "90" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0000905089" "00000005" "90" "912" "1" "912" "1" "c.912+1G>A" "r.spl" "p.?" "" "0000905090" "00000005" "90" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "" "0000905091" "00000005" "90" "1163" "0" "1164" "0" "c.1163_1164del" "r.(?)" "p.(Val388GlyfsTer5)" "" "0000905092" "00000005" "90" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0000906027" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000906028" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000906029" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0000906086" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000906109" "00000005" "90" "1089" "0" "1089" "0" "c.1089del" "r.(?)" "p.(Lys363AsnfsTer37)" "" "0000906110" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0000906111" "00000005" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "" "0000906112" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000906113" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0000906114" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0000906115" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl" "p.?" "" "0000906116" "00000005" "90" "261" "0" "261" "0" "c.261C>A" "r.(?)" "p.(Ser87Arg)" "" "0000906117" "00000005" "90" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000906144" "00000005" "90" "165" "0" "165" "0" "c.165del" "r.(?)" "p.(Phe55LeufsTer6)" "" "0000906167" "00000005" "90" "226" "0" "226" "0" "c.226G>T" "r.(?)" "p.(Glu76Ter)" "" "0000906168" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000906169" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000906170" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000906171" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000906172" "00000005" "90" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0000906173" "00000005" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "" "0000906174" "00000005" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "" "0000906175" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000906305" "00000005" "90" "352" "1" "352" "1" "c.352+1G>A" "r.spl" "p.?" "3i" "0000906306" "00000005" "50" "353" "-22" "353" "-22" "c.353-22C>A" "r.(?)" "p.(=)" "3i" "0000906307" "00000005" "50" "353" "-6" "353" "-6" "c.353-6T>A" "r.(?)" "p.(=)" "3i" "0000906308" "00000005" "90" "353" "-1" "353" "-1" "c.353-1G>A" "r.(352_353ins[353-24_353-2;a])" "p.(Thr117_Val118insGlyArgCysLeuLeuCysValSer)" "3i" "0000906309" "00000005" "90" "353" "-1" "353" "-1" "c.353-1G>C" "r.spl" "p.?" "3i" "0000906310" "00000005" "90" "353" "-1" "353" "-1" "c.353-1G>T" "r.spl" "p.?" "3i" "0000906311" "00000005" "90" "353" "-1" "912" "1" "c.(352+1_353-1)_(912+1_913-1)del" "r.?" "p.?" "3i_8i" "0000906312" "00000005" "90" "355" "0" "355" "0" "c.355C>T" "r.(?)" "p.(Pro119Ser)" "4" "0000906313" "00000005" "90" "358" "0" "358" "0" "c.358del" "r.(?)" "p.(Trp120GlyfsTer75)" "4" "0000906314" "00000005" "90" "359" "0" "359" "0" "c.359G>A" "r.(?)" "p.(Trp120Ter)" "4" "0000906315" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "3" "0000906316" "00000005" "90" "338" "0" "341" "0" "c.338_341del" "r.(?)" "p.(Lys113ArgfsTer81)" "3" "0000906317" "00000005" "90" "344" "0" "347" "0" "c.344_347del" "r.(?)" "p.(Lys115ThrfsTer79)" "3" "0000906318" "00000005" "90" "350" "0" "350" "0" "c.350del" "r.(?)" "p.(Thr117LysfsTer78)" "3" "0000906319" "00000005" "50" "511" "0" "511" "0" "c.511G>A" "r.(?)" "p.(Gly171Arg)" "6" "0000906320" "00000005" "50" "512" "0" "512" "0" "c.512G>C" "r.(?)" "p.(Gly171Ala)" "6" "0000906321" "00000005" "90" "514" "0" "514" "0" "c.514C>T" "r.(?)" "p.(Gln172Ter)" "6" "0000906322" "00000005" "50" "517" "0" "517" "0" "c.517C>A" "r.(?)" "p.(Pro173Thr)" "6" "0000906323" "00000005" "90" "520" "0" "520" "0" "c.520A>G" "r.(?)" "p.(Ile174Val)" "6" "0000906324" "00000005" "90" "521" "0" "521" "0" "c.521T>A" "r.(?)" "p.(Ile174Asn)" "6" "0000906325" "00000005" "50" "521" "0" "521" "0" "c.521T>C" "r.(?)" "p.(Ile174Thr)" "6" "0000906326" "00000005" "50" "523" "0" "523" "0" "c.523C>G" "r.(?)" "p.(Pro175Ala)" "6" "0000906327" "00000005" "90" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "6" "0000906328" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "6" "0000906329" "00000005" "90" "527" "0" "527" "0" "c.527G>A" "r.(?)" "p.(Arg176Gln)" "6" "0000906330" "00000005" "50" "527" "0" "527" "0" "c.527G>C" "r.(?)" "p.(Arg176Pro)" "6" "0000906331" "00000005" "90" "529" "0" "529" "0" "c.529G>C" "r.(?)" "p.(Val177Leu)" "6" "0000906332" "00000005" "90" "529" "0" "529" "0" "c.529G>A" "r.(?)" "p.(Val177Met)" "6" "0000906333" "00000005" "50" "530" "0" "530" "0" "c.530T>C" "r.(?)" "p.(Val177Ala)" "6" "0000906334" "00000005" "90" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "6" "0000906335" "00000005" "50" "533" "0" "533" "0" "c.533A>T" "r.(?)" "p.(Glu178Val)" "6" "0000906336" "00000005" "50" "535" "0" "535" "0" "c.535T>A" "r.(?)" "p.(Tyr179Asn)" "6" "0000906337" "00000005" "50" "535" "0" "535" "0" "c.535T>C" "r.(?)" "p.(Tyr179His)" "6" "0000906338" "00000005" "50" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Glu182Lys)" "6" "0000906339" "00000005" "50" "545" "0" "545" "0" "c.545A>G" "r.(?)" "p.(Glu182Gly)" "6" "0000906340" "00000005" "50" "547" "0" "547" "0" "c.547G>C" "r.(?)" "p.(Glu183Gln)" "6" "0000906341" "00000005" "50" "548" "0" "548" "0" "c.548A>G" "r.(?)" "p.(Glu183Gly)" "6" "0000906342" "00000005" "90" "551" "0" "551" "0" "c.551del" "r.(?)" "p.(Lys184ArgfsTer11)" "6" "0000906343" "00000005" "90" "556" "0" "556" "0" "c.556del" "r.(?)" "p.(Thr186HisfsTer9)" "6" "0000906344" "00000005" "90" "558" "0" "558" "0" "c.558del" "r.(?)" "p.(Trp187GlyfsTer8)" "6" "0000906345" "00000005" "90" "558" "0" "559" "0" "c.558_559del" "r.(?)" "p.(Trp187GlyfsTer12)" "6" "0000906346" "00000005" "50" "559" "0" "559" "0" "c.559T>C" "r.(?)" "p.(Trp187Arg)" "6" "0000906347" "00000005" "90" "560" "0" "560" "0" "c.560G>A" "r.(?)" "p.(Trp187Ter)" "6" "0000906348" "00000005" "50" "561" "0" "561" "0" "c.561G>C" "r.(?)" "p.(Trp187Cys)" "6" "0000906349" "00000005" "90" "561" "0" "561" "0" "c.561G>A" "r.(?)" "p.(Trp187Ter)" "6" "0000906350" "00000005" "90" "563" "0" "563" "0" "c.563G>A" "r.(?)" "p.(Gly188Asp)" "6" "0000906351" "00000005" "90" "563" "0" "563" "0" "c.563del" "r.(?)" "p.(Gly188AlafsTer7)" "6" "0000906352" "00000005" "90" "569" "0" "569" "0" "c.569T>C" "r.(?)" "p.(Val190Ala)" "6" "0000906353" "00000005" "50" "361" "0" "361" "0" "c.361T>C" "r.(?)" "p.(Phe121Leu)" "4" "0000906354" "00000005" "50" "365" "0" "365" "0" "c.365C>A" "r.(?)" "p.(Pro122Gln)" "4" "0000906355" "00000005" "50" "368" "0" "368" "0" "c.368G>T" "r.(?)" "p.(Arg123Ile)" "4" "0000906356" "00000005" "50" "371" "0" "371" "0" "c.371C>T" "r.(?)" "p.(Thr124Ile)" "4" "0000906357" "00000005" "50" "385" "0" "385" "0" "c.385G>T" "r.(?)" "p.(Asp129Tyr)" "4" "0000906358" "00000005" "50" "386" "0" "386" "0" "c.386A>T" "r.(?)" "p.(Asp129Val)" "4" "0000906359" "00000005" "90" "386" "0" "386" "0" "c.386A>G" "r.(?)" "p.(Asp129Gly)" "4" "0000906360" "00000005" "50" "395" "0" "395" "0" "c.395C>T" "r.(?)" "p.(Ala132Val)" "4" "0000906361" "00000005" "90" "398" "0" "401" "0" "c.398_401del" "r.(?)" "p.(Asn133ArgfsTer61)" "4" "0000906362" "00000005" "90" "400" "0" "400" "0" "c.400C>T" "r.(?)" "p.(Gln134Ter)" "4" "0000906363" "00000005" "50" "411" "0" "411" "0" "c.411C>T" "r.(?)" "p.(Ser137=)" "4" "0000906364" "00000005" "90" "428" "0" "428" "0" "c.428A>G" "r.(?)" "p.(Asp143Gly)" "4" "0000906365" "00000005" "90" "434" "0" "434" "0" "c.434A>T" "r.(?)" "p.(Asp145Val)" "4" "0000906366" "00000005" "90" "436" "0" "436" "0" "c.436C>T" "r.(?)" "p.(His146Tyr)" "4" "0000906367" "00000005" "50" "439" "0" "439" "0" "c.439C>T" "r.(?)" "p.(Pro147Ser)" "4" "0000906368" "00000005" "90" "440" "0" "440" "0" "c.440C>T" "r.(?)" "p.(Pro147Leu)" "4" "0000906369" "00000005" "90" "442" "-1" "842" "1" "c.(441+1_442-1)_(842+1_843-1)del" "r.?" "p.(Gly148_Gln304del)" "4i_7i" "0000906370" "00000005" "90" "441" "1" "441" "1" "c.441+1del" "r.spl" "p.?" "4i" "0000906371" "00000005" "90" "441" "1" "441" "1" "c.441+1G>A" "r.spl" "p.?" "4i" "0000906372" "00000005" "90" "441" "2" "441" "3" "c.441+2_441+3del" "r.spl" "p.?" "4i" "0000906373" "00000005" "90" "441" "2" "441" "2" "c.441+2T>G" "r.spl" "p.?" "4i" "0000906374" "00000005" "90" "441" "2" "441" "2" "c.441+2T>A" "r.spl" "p.?" "4i" "0000906375" "00000005" "50" "441" "3" "441" "3" "c.441+3G>C" "r.spl?" "p.?" "4i" "0000906376" "00000005" "50" "441" "4" "441" "4" "c.441+4A>G" "r.spl?" "p.?" "4i" "0000906377" "00000005" "50" "441" "5" "441" "5" "c.441+5G>T" "r.spl?" "p.?" "4i" "0000906378" "00000005" "90" "441" "5" "441" "5" "c.441+5G>A" "r.spl" "p.?" "4i" "0000906379" "00000005" "50" "441" "6" "441" "6" "c.441+6T>C" "r.spl?" "p.?" "4i" "0000906380" "00000005" "50" "441" "6" "441" "6" "c.441+6T>A" "r.spl?" "p.?" "4i" "0000906381" "00000005" "50" "441" "47" "441" "47" "c.441+47C>T" "r.(?)" "p.(=)" "4i" "0000906382" "00000005" "90" "442" "-5" "442" "-5" "c.442-5C>G" "r.(?)" "p.(=)" "4i" "0000906383" "00000005" "90" "442" "-2" "442" "-2" "c.442-2A>C" "r.spl" "p.?" "4i" "0000906384" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "4i" "0000906385" "00000005" "90" "442" "-1" "706" "1" "c.(441+1_442-1)_(706+1_707-1)del" "r.?" "p.(Gly148LeufsTer105)" "4i_6i" "0000906386" "00000005" "50" "442" "0" "442" "0" "c.442G>A" "r.spl?" "p.(Gly148Ser)" "5" "0000906387" "00000005" "90" "442" "-102" "509" "781" "c.442-102_509+781del" "r.(?)" "p.(Gly148TrpfsTer29)" "4i_5i" "0000906388" "00000005" "50" "443" "0" "443" "0" "c.443G>A" "r.(?)" "p.(Gly148Asp)" "5" "0000906389" "00000005" "50" "451" "0" "451" "0" "c.451G>C" "r.(?)" "p.(Asp151His)" "5" "0000906390" "00000005" "50" "452" "0" "452" "0" "c.452A>G" "r.(?)" "p.(Asp151Gly)" "5" "0000906391" "00000005" "50" "453" "0" "453" "0" "c.453T>A" "r.(?)" "p.(Asp151Glu)" "5" "0000906392" "00000005" "50" "460" "0" "460" "0" "c.460T>C" "r.(?)" "p.(Tyr154His)" "5" "0000906393" "00000005" "50" "460" "0" "460" "0" "c.460T>A" "r.(?)" "p.(Tyr154Asn)" "5" "0000906394" "00000005" "50" "461" "0" "461" "0" "c.461A>G" "r.(?)" "p.(Tyr154Cys)" "5" "0000906395" "00000005" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "5" "0000906396" "00000005" "50" "464" "0" "464" "0" "c.464G>C" "r.(?)" "p.(Arg155Pro)" "5" "0000906397" "00000005" "50" "466" "0" "466" "0" "c.466G>C" "r.(?)" "p.(Ala156Pro)" "5" "0000906398" "00000005" "50" "470" "0" "470" "0" "c.470G>T" "r.(?)" "p.(Arg157Ile)" "5" "0000906399" "00000005" "50" "470" "0" "470" "0" "c.470G>A" "r.(?)" "p.(Arg157Lys)" "5" "0000906400" "00000005" "50" "470" "0" "470" "0" "c.470G>C" "r.(?)" "p.(Arg157Thr)" "5" "0000906401" "00000005" "50" "470" "0" "471" "0" "c.470_471delinsAC" "r.(?)" "p.(Arg157Asn)" "5" "0000906402" "00000005" "50" "471" "0" "471" "0" "c.471A>C" "r.(?)" "p.(Arg157Ser)" "5" "0000906403" "00000005" "50" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "5" "0000906404" "00000005" "50" "473" "0" "473" "0" "c.473G>C" "r.(?)" "p.(Arg158Pro)" "5" "0000906405" "00000005" "50" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "5" "0000906406" "00000005" "50" "479" "0" "479" "0" "c.479A>C" "r.(?)" "p.(Gln160Pro)" "5" "0000906407" "00000005" "90" "482" "0" "482" "0" "c.482T>C" "r.(?)" "p.(Phe161Ser)" "5" "0000906408" "00000005" "50" "490" "0" "490" "0" "c.490A>G" "r.(?)" "p.(Ile164Val)" "5" "0000906409" "00000005" "50" "491" "0" "491" "0" "c.491T>C" "r.(?)" "p.(Ile164Thr)" "5" "0000906410" "00000005" "50" "493" "0" "493" "0" "c.493G>C" "r.(?)" "p.(Ala165Pro)" "5" "0000906411" "00000005" "50" "493" "0" "493" "0" "c.493G>A" "r.(?)" "p.(Ala165Thr)" "5" "0000906412" "00000005" "50" "494" "0" "494" "0" "c.494C>A" "r.(?)" "p.(Ala165Asp)" "5" "0000906413" "00000005" "90" "498" "0" "498" "0" "c.498C>A" "r.(?)" "p.(Tyr166Ter)" "5" "0000906414" "00000005" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asn167Ser)" "5" "0000906415" "00000005" "90" "500" "0" "500" "0" "c.500A>T" "r.(?)" "p.(Asn167Ile)" "5" "0000906416" "00000005" "90" "502" "0" "502" "0" "c.502T>C" "r.(?)" "p.(Tyr168His)" "5" "0000906417" "00000005" "90" "503" "0" "503" "0" "c.503del" "r.(?)" 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"p.(=)" "1i" "0000907820" "00000005" "50" "61" "-345" "61" "-345" "c.61-345T>C" "r.(?)" "p.(=)" "1i" "0000907821" "00000005" "50" "60" "299" "60" "299" "c.60+299C>G" "r.(?)" "p.(=)" "1i" "0000907822" "00000005" "50" "60" "134" "60" "134" "c.60+134A>G" "r.(?)" "p.(=)" "1i" "0000907823" "00000005" "50" "60" "62" "60" "62" "c.60+62C>G" "r.(?)" "p.(=)" "1i" "0000907824" "00000005" "50" "60" "10" "60" "10" "c.60+10G>C" "r.(?)" "p.(=)" "1i" "0000907825" "00000005" "50" "60" "10" "60" "10" "c.60+10G>A" "r.(?)" "p.(=)" "1i" "0000907826" "00000005" "90" "36" "0" "36" "0" "c.36del" "r.(?)" "p.(Arg13GlyfsTer25)" "1" "0000907827" "00000005" "50" "21" "0" "21" "0" "c.21A>G" "r.(?)" "p.(Glu7=)" "1" "0000907828" "00000005" "50" "12" "0" "12" "0" "c.12G>A" "r.(?)" "p.(Ala4=)" "1" "0000907829" "00000005" "90" "3" "0" "3" "0" "c.3G>C" "r.(?)" "p.(Met1?)" "1" "0000907830" "00000005" "50" "215" "0" "223" "0" "c.215_223del" "r.(?)" "p.(Leu72_Asp75delinsTyr)" "3" "0000907831" "00000005" "90" "353" "-1" "441" "1" "c.(352+1_353-1)_(441+1_442-1)del" "r.?" "p.?" "3i_4i" "0000907832" "00000005" "50" "706" "629" "706" "629" "c.706+629A>C" "r.(?)" "p.(=)" "6i" "0000907833" "00000005" "50" "912" "5" "912" "5" "c.912+5G>T" "r.spl?" "p.?" "8i" "0000907834" "00000005" "50" "451" "0" "451" "0" "c.451G>A" "r.(?)" "p.(Asp151Asn)" "5" "0000907835" "00000005" "50" "115" "0" "115" "0" "c.115T>C" "r.(?)" "p.(Phe39Leu)" "2" "0000907836" "00000005" "50" "272" "0" "272" "0" "c.272T>C" "r.(?)" "p.(Leu91Pro)" "3" "0000907837" "00000005" "50" "569" "0" "569" "0" "c.569T>A" "r.(?)" "p.(Val190Glu)" "6" "0000907838" "00000005" "50" "978" "0" "978" "0" "c.978G>C" "r.(?)" "p.(Trp326Cys)" "10" "0000907839" "00000005" "50" "1075" "0" "1075" "0" "c.1075T>C" "r.(?)" "p.(Ser359Pro)" "11" "0000907840" "00000005" "50" "583" "0" "583" "0" "c.583A>G" "r.(?)" "p.(Lys195Glu)" "6" "0000907841" "00000005" "50" "1170" "0" "1170" "0" "c.1170G>T" "r.(?)" "p.(Glu390Asp)" "11" "0000907842" "00000005" "90" "162" "0" "165" "0" "c.162_165del" "r.(?)" "p.(Phe55ArgfsTer5)" "2" "0000907843" "00000005" "50" "1217" "0" "1217" "0" "c.1217T>G" "r.(?)" "p.(Ile406Arg)" "12" "0000907844" "00000005" "50" "103" "0" "103" "0" "c.103A>G" "r.(?)" "p.(Ile35Val)" "2" "0000907845" "00000005" "90" "1073" "0" "1073" "0" "c.1073T>G" "r.(?)" "p.(Leu358Ter)" "11" "0000907846" "00000005" "90" "168" "1" "168" "1" "c.168+1G>C" "r.spl" "p.?" "2i" "0000907847" "00000005" "50" "353" "0" "353" "0" "c.353T>G" "r.spl?" "p.(Val118Gly)" "3i" "0000907848" "00000005" "50" "152" "0" "152" "0" "c.152T>C" "r.(?)" "p.(Val51Ala)" "2" "0000907849" "00000005" "50" "281" "0" "281" "0" "c.281T>A" "r.(?)" "p.(Ile94Asn)" "3" "0000907850" "00000005" "50" "347" "0" "347" "0" "c.347A>G" "r.(?)" "p.(Asp116Gly)" "3" "0000907851" "00000005" "50" "566" "0" "566" "0" "c.566C>T" "r.(?)" "p.(Thr189Ile)" "6" "0000907852" "00000005" "50" "727" "0" "727" "0" "c.727C>G" "r.(?)" "p.(Arg243Gly)" "7" "0000907853" "00000005" "50" "787" "0" "787" "0" "c.787T>C" "r.(?)" "p.(Phe263Leu)" "7" "0000907854" "00000005" "50" "797" "0" "797" "0" "c.797C>G" "r.(?)" "p.(Thr266Arg)" "7" "0000907855" "00000005" "50" "916" "0" "916" "0" "c.916A>C" "r.(?)" "p.(Ile306Leu)" "9" "0000907856" "00000005" "50" "961" "0" "961" "0" "c.961C>A" "r.(?)" "p.(Leu321Ile)" "9" "0000907857" "00000005" "50" "1243" "0" "1243" "0" "c.1243G>C" "r.(?)" "p.(Asp415His)" "12" "0000907858" "00000005" "50" "1268" "0" "1268" "0" "c.1268T>C" "r.(?)" "p.(Val423Ala)" "12" "0000907859" "00000005" "50" "61" "-907" "61" "-907" "c.61-907T>C" "r.(?)" "p.(=)" "1i" "0000907860" "00000005" "90" "510" "-1" "510" "-1" "c.510-1G>C" "r.spl" "p.?" "5i" "0000907861" "00000005" "90" "912" "2" "912" "2" "c.912+2T>A" "r.spl" "p.?" "8i" "0000907862" "00000005" "50" "509" "15" "509" "18" "c.509+15_509+18del" "r.(?)" "p.(=)" "5i" "0000907863" "00000005" "50" "61" "-13" "61" "-5" "c.61-13_61-5del" "r.(?)" "p.(=)" "2i" "0000907864" "00000005" "50" "169" "0" "172" "0" "c.169_172del" "r.spl?" "p.(Glu57MetfsTer3)" "3" "0000907865" "00000005" "90" "233" "0" "236" "0" "c.233_236del" "r.(?)" "p.(Glu78ValfsTer13)" "3" "0000907866" "00000005" "90" "724" "0" "724" "0" "c.724del" "r.(?)" "p.(Leu242SerfsTer99)" "7" "0000907867" "00000005" "90" "986" "0" "987" "0" "c.986_987del" "r.(?)" "p.(Val329GlyfsTer24)" "10" "0000907868" "00000005" "90" "602" "0" "602" "0" "c.602dup" "r.(?)" "p.(His201GlnfsTer5)" "6" "0000907869" "00000005" "50" "843" "0" "843" "0" "c.843dup" "r.spl?" "p.(Asp282Ter)" "8" "0000907870" "00000005" "50" "1127" "0" "1127" "0" "c.1127A>G" "r.(?)" "p.(Asn376Ser)" "11" "0000907871" "00000005" "90" "722" "0" "735" "0" "c.722_735delinsCCTCCGACCTGTA" "r.(?)" "p.(Arg241ProfsTer5)" "7" "0000907872" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000907873" "00000005" "10" "735" "0" "735" "0" "c.735G>A" "r.(=)" "p.(Val245=)" "" "0000907874" "00000005" "90" "913" "-1" "1199" "1" "c.(912+1_913-1)_(1199+1_1200-1)del" "r.?" "p.?" "8i_11i" "0000913733" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000925518" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198Serfs*136)" "" "0000929995" "00000005" "90" "941" "0" "941" "0" "c.941C>A" "r.(?)" "p.(Pro314His)" "" "0000929996" "00000005" "90" "916" "0" "916" "0" "c.916A>G" "r.(?)" "p.(Ile306Val)" "" "0000929997" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000929998" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000929999" "00000005" "90" "727" "0" "727" "0" "c.727C>T" "r.(?)" "p.(Arg243Ter)" "" "0000930000" "00000005" "70" "527" "0" "527" "0" "c.527G>C" "r.(?)" "p.(Arg176Pro)" "" "0000930001" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000966645" "00000005" "90" "266" "0" "266" "0" "c.266dup" "r.(?)" "p.(Ala90Cysfs*12)" "" "0000966646" "00000005" "30" "60" "62" "60" "62" "c.60+62C>T" "r.(=)" "p.(=)" "" "0000979967" "00000005" "50" "1066" "-7" "1066" "-7" "c.1066-7C>A" "r.(=)" "p.(=)" "" "0000979968" "00000005" "90" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0000979969" "00000005" "90" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0000979970" "00000005" "90" "527" "0" "527" "0" "c.527G>T" "r.(?)" "p.(Arg176Leu)" "" "0000979971" "00000005" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0000979972" "00000005" "50" "500" "0" "500" "0" "c.500A>G" "r.(?)" "p.(Asn167Ser)" "" "0000979973" "00000005" "90" "473" "0" "473" "0" "c.473G>A" "r.(?)" "p.(Arg158Gln)" "" "0000979974" "00000005" "90" "311" "0" "311" "0" "c.311C>A" "r.(?)" "p.(Ala104Asp)" "" "0000979975" "00000005" "90" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0000979976" "00000005" "90" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0000979977" "00000005" "50" "30" "0" "30" "0" "c.30C>G" "r.(?)" "p.(Gly10=)" "" "0000984941" "00000005" "70" "866" "0" "866" "0" "c.866G>T" "r.(?)" "p.(Gly289Val)" "" "0000984947" "00000005" "90" "1169" "0" "1169" "0" "c.1169A>G" "r.(?)" "p.(Glu390Gly)" "" "0000988487" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000988488" "00000005" "70" "611" "0" "611" "0" "c.611A>G" "r.(?)" "p.(Tyr204Cys)" "" "0000988489" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000988490" "00000005" "90" "498" "0" "498" "0" "c.498C>G" "r.(?)" "p.(Tyr166Ter)" "" "0000988491" "00000005" "50" "125" "0" "125" "0" "c.125A>T" "r.(?)" "p.(Lys42Ile)" "" "0000988492" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000988493" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000988494" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000988495" "00000005" "90" "442" "-1" "442" "-1" "c.442-1G>A" "r.spl" "p.?" "" "0000988496" "00000005" "70" "722" "0" "722" "0" "c.722del" "r.(?)" "p.(Arg241ProfsTer100)" "" "0000988497" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000988498" "00000005" "70" "740" "0" "740" "0" "c.740G>T" "r.(?)" "p.(Gly247Val)" "" "0000988499" "00000005" "50" "827" "0" "827" "0" "c.827T>G" "r.(?)" "p.(Met276Arg)" "" "0000988500" "00000005" "90" "929" "0" "929" "0" "c.929C>T" "r.(?)" "p.(Ser310Phe)" "" "0000988501" "00000005" "90" "1223" "0" "1223" "0" "c.1223G>A" "r.(?)" "p.(Arg408Gln)" "" "0000988502" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000988503" "00000005" "50" "1264" "0" "1264" "0" "c.1264G>A" "r.(?)" "p.(Glu422Lys)" "" "0000988504" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0000988505" "00000005" "90" "1238" "0" "1238" "0" "c.1238G>C" "r.(?)" "p.(Arg413Pro)" "" "0000988506" "00000005" "90" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0000988507" "00000005" "70" "1315" "6" "1315" "6" "c.1315+6T>A" "r.spl" "p.?" "" "0000988508" "00000005" "50" "1174" "0" "1174" "0" "c.1174T>A" "r.(?)" "p.(Phe392Ile)" "" "0000988509" "00000005" "90" "208" "0" "210" "0" "c.208_210del" "r.(?)" "p.(Ser70del)" "" "0000988510" "00000005" "50" "310" "0" "310" "0" "c.310G>T" "r.(?)" "p.(Ala104Ser)" "" "0000988511" "00000005" "90" "331" "0" "331" "0" "c.331C>T" "r.(?)" "p.(Arg111Ter)" "" "0000988512" "00000005" "90" "464" "0" "464" "0" "c.464G>A" "r.(?)" "p.(Arg155His)" "" "0000988513" "00000005" "90" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0000988514" "00000005" "90" "722" "0" "722" "0" "c.722G>A" "r.(?)" "p.(Arg241His)" "" "0000988515" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0000988516" "00000005" "70" "770" "0" "770" "0" "c.770G>T" "r.(?)" "p.(Gly257Val)" "" "0000988517" "00000005" "90" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0000988518" "00000005" "90" "977" "0" "977" "0" "c.977G>A" "r.(?)" "p.(Trp326Ter)" "" "0000988519" "00000005" "70" "1301" "0" "1301" "0" "c.1301C>A" "r.(?)" "p.(Ala434Asp)" "" "0000988520" "00000005" "50" "1123" "0" "1123" "0" "c.1123C>G" "r.(?)" "p.(Gln375Glu)" "" "0000988521" "00000005" "90" "0" "0" "0" "0" "c.?" "r.?" "p.?" "" "0000988522" "00000005" "70" "1199" "0" "1199" "0" "c.1199G>A" "r.(?)" "p.(Arg400Lys)" "" "0000999565" "00000005" "10" "1065" "97" "1065" "97" "c.1065+97G>A" "r.(=)" "p.(=)" "" "0000999566" "00000005" "90" "688" "0" "688" "0" "c.688G>A" "r.(?)" "p.(Val230Ile)" "" "0000999567" "00000005" "10" "510" "-54" "510" "-54" "c.510-54G>A" "r.(=)" "p.(=)" "" "0001007285" "00000005" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0001007286" "00000005" "70" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0001007287" "00000005" "70" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0001007288" "00000005" "70" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0001007289" "00000005" "70" "734" "0" "734" "0" "c.734T>C" "r.(?)" "p.(Val245Ala)" "" "0001007290" "00000005" "70" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Asn61Lys)" "" "0001007291" "00000005" "70" "117" "0" "117" "0" "c.117C>G" "r.(?)" "p.(Phe39Leu)" "" "0001007292" "00000005" "70" "1199" "17" "1199" "17" "c.1199+17G>A" "r.(?)" "p.?" "" "0001007293" "00000005" "70" "116" "0" "118" "0" "c.116_118del" "r.(?)" "p.(Phe39del)" "" "0001007294" "00000005" "70" "728" "0" "728" "0" "c.728G>A" "r.(?)" "p.(Arg243Gln)" "" "0001007295" "00000005" "70" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(1065_1066ins1066-9_1066-1)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0001007296" "00000005" "70" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0001007297" "00000005" "90" "511" "0" "511" "0" "c.511G>C" "r.(?)" "p.(Gly171Arg)" "6" "0001007298" "00000005" "70" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0001007299" "00000005" "70" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0001007300" "00000005" "70" "500" "0" "500" "0" "c.500A>T" "r.(?)" "p.(Asn167Ile)" "" "0001007301" "00000005" "90" "442" "-1" "509" "1" "c.(441+1_442-1)_(509+1_510-1)del" "r.(442_509del)" "p.(Gly148TrpfsTer29)" "" "0001007302" "00000005" "70" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0001007303" "00000005" "70" "526" "0" "526" "0" "c.526C>T" "r.(?)" "p.(Arg176Ter)" "" "0001007304" "00000005" "70" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0001007305" "00000005" "70" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0001007306" "00000005" "70" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0001007307" "00000005" "70" "60" "5" "60" "5" "c.60+5G>T" "r.spl" "p.?" "" "0001007308" "00000005" "70" "168" "5" "168" "5" "c.168+5G>C" "r.spl" "p.?" "" "0001007309" "00000005" "70" "1027" "0" "1027" "0" "c.1027T>G" "r.(?)" "p.(Tyr343Asp)" "" "0001007349" "00000005" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0001007350" "00000005" "70" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0001007351" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "" "0001007352" "00000005" "70" "898" "0" "898" "0" "c.898G>T" "r.(?)" "p.(Ala300Ser)" "" "0001007395" "00000005" "70" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" "0001007396" "00000005" "70" "510" "-2" "510" "-2" "c.510-2A>G" "r.spl" "p.?" "" "0001007397" "00000005" "90" "592" "0" "613" "0" "c.592_613del" "r.(?)" "p.(Tyr198SerfsTer136)" "6" "0001007398" "00000005" "70" "1241" "0" "1241" "0" "c.1241A>G" "r.(?)" "p.(Tyr414Cys)" "" "0001007399" "00000005" "70" "926" "0" "926" "0" "c.926C>T" "r.(?)" "p.(Ala309Val)" "" "0001007400" "00000005" "70" "183" "0" "183" "0" "c.183C>G" "r.(?)" "p.(Asn61Lys)" "" "0001007401" "00000005" "70" "533" "0" "533" "0" "c.533A>G" "r.(?)" "p.(Glu178Gly)" "" "0001007402" "00000005" "70" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0001007403" "00000005" "70" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0001007404" "00000005" "70" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0001007405" "00000005" "70" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0001007406" "00000005" "70" "842" "0" "842" "0" "c.842C>T" "r.(?)" "p.(Pro281Leu)" "" "0001007407" "00000005" "70" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.(?)" "p.(Gln355_Tyr356insGlyLeuGln)" "" "0001007408" "00000005" "70" "165" "0" "165" "0" "c.165T>G" "r.(?)" "p.(Phe55Leu)" "" "0001007409" "00000005" "70" "194" "0" "194" "0" "c.194T>C" "r.(?)" "p.(Ile65Thr)" "" "0001007410" "00000005" "70" "782" "0" "782" "0" "c.782G>A" "r.(?)" "p.(Arg261Gln)" "" "0001007411" "00000005" "70" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0001007412" "00000005" "70" "721" "0" "721" "0" "c.721C>T" "r.(?)" "p.(Arg241Cys)" "" "0001007413" "00000005" "70" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0001007414" "00000005" "70" "143" "0" "143" "0" "c.143T>C" "r.(?)" "p.(Leu48Ser)" "" "0001007415" "00000005" "70" "1045" "0" "1045" "0" "c.1045T>C" "r.(?)" "p.(Ser349Pro)" "" "0001007416" "00000005" "70" "441" "5" "441" "5" "c.441+5G>T" "r.spl" "p.?" "" "0001007417" "00000005" "70" "1162" "0" "1162" "0" "c.1162G>A" "r.(?)" "p.(Val388Met)" "" "0001014893" "00000005" "90" "1099" "0" "1099" "0" "c.1099dup" "r.(?)" "p.(Leu367Profs*27)" "" "0001014894" "00000005" "70" "506" "0" "506" "0" "c.506G>A" "r.(?)" "p.(Arg169His)" "" "0001014895" "00000005" "90" "441" "5" "441" "5" "c.441+5G>T" "r.spl?" "p.?" "" "0001017275" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0001017276" "00000005" "70" "1066" "-11" "1066" "-11" "c.1066-11G>A" "r.spl" "p.?" "10i" "0001026091" "00000005" "90" "1099" "0" "1099" "0" "c.1099dup" "r.(?)" "p.(Leu367Profs*27)" "" "0001038883" "00000005" "90" "1318" "0" "1318" "0" "c.1318G>T" "r.(?)" "p.(Glu440Ter)" "" "0001038884" "00000005" "90" "1243" "0" "1243" "0" "c.1243G>A" "r.(?)" "p.(Asp415Asn)" "" "0001038885" "00000005" "70" "1228" "0" "1228" "0" "c.1228T>C" "r.(?)" "p.(Phe410Leu)" "" "0001038886" "00000005" "90" "1208" "0" "1208" "0" "c.1208C>T" "r.(?)" "p.(Ala403Val)" "" "0001038887" "00000005" "90" "1139" "0" "1139" "0" "c.1139C>T" "r.(?)" "p.(Thr380Met)" "" "0001038888" "00000005" "90" "1042" "0" "1042" "0" "c.1042C>G" "r.(?)" "p.(Leu348Val)" "" "0001038889" "00000005" "70" "844" "0" "844" "0" "c.844G>A" "r.(?)" "p.(Asp282Asn)" "" "0001038890" "00000005" "90" "754" "0" "754" "0" "c.754C>T" "r.(?)" "p.(Arg252Trp)" "" "0001038891" "00000005" "90" "722" "0" "722" "0" "c.722del" "r.(?)" "p.(Arg241Profs*100)" "" "0001038892" "00000005" "90" "472" "0" "472" "0" "c.472C>T" "r.(?)" "p.(Arg158Trp)" "" "0001038893" "00000005" "90" "60" "5" "60" "5" "c.60+5G>T" "r.spl?" "p.?" "" "0001046339" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0001046340" "00000005" "30" "913" "-5" "913" "-5" "c.913-5T>C" "r.spl?" "p.?" "" "0001049630" "00000005" "90" "1222" "0" "1222" "0" "c.1222C>T" "r.(?)" "p.(Arg408Trp)" "" "0001049631" "00000005" "70" "544" "0" "544" "0" "c.544G>A" "r.(?)" "p.(Glu182Lys)" "" "0001054457" "00000005" "90" "1315" "1" "1315" "1" "c.1315+1G>A" "r.spl?" "p.?" "" "0001054458" "00000005" "70" "937" "0" "937" "0" "c.937G>A" "r.(?)" "p.(Ala313Thr)" "" "0001054459" "00000005" "70" "868" "0" "868" "0" "c.868C>T" "r.(?)" "p.(His290Tyr)" "" "0001054460" "00000005" "90" "842" "5" "842" "5" "c.842+5G>A" "r.spl?" "p.?" "" "0001054461" "00000005" "90" "193" "0" "193" "0" "c.193A>G" "r.(?)" "p.(Ile65Val)" "" "0001054462" "00000005" "70" "158" "0" "158" "0" "c.158G>C" "r.(?)" "p.(Arg53Pro)" "" "0001054463" "00000005" "50" "158" "0" "158" "0" "c.158G>A" "r.(?)" "p.(Arg53His)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 4149 "{{screeningid}}" "{{variantid}}" "0000000007" "0000000282" "0000000010" "0000000284" "0000000010" "0000000286" "0000000013" "0000000281" "0000000022" "0000000287" "0000000025" "0000000283" "0000000071" "0000000285" "0000000071" "0000000290" "0000000097" "0000000288" "0000000097" "0000000289" "0000002944" "0000021428" "0000002944" "0000021429" "0000025491" "0000048384" "0000025491" "0000048962" "0000025491" "0000048963" "0000025491" "0000048964" "0000181996" "0000405796" "0000181996" "0000405797" "0000181997" "0000405798" "0000181997" "0000405801" "0000182020" "0000405835" "0000268163" "0000600837" "0000268163" "0000600838" "0000268163" "0000600839" "0000291740" "0000648429" "0000291741" "0000648430" "0000291742" "0000648431" "0000291743" "0000648432" "0000291744" "0000648433" "0000291745" "0000648434" "0000291746" "0000648435" "0000291747" "0000648436" "0000291748" "0000648437" 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"0000844039" "0000407370" "0000843939" "0000407370" "0000844040" "0000407371" "0000843940" "0000407371" "0000844041" "0000407372" "0000843941" "0000407372" "0000844042" "0000407373" "0000843942" "0000407373" "0000844043" "0000407374" "0000843943" "0000407374" "0000844044" "0000407375" "0000843944" "0000407375" "0000844045" "0000407376" "0000843945" "0000407376" "0000844046" "0000407377" "0000843946" "0000407377" "0000844047" "0000407378" "0000843947" "0000407378" "0000844048" "0000407379" "0000843948" "0000407379" "0000844049" "0000407380" "0000843949" "0000407380" "0000844050" "0000407381" "0000843950" "0000407381" "0000844051" "0000407382" "0000843951" "0000407382" "0000844052" "0000407383" "0000843952" "0000407383" "0000844053" "0000407384" "0000843953" "0000407384" "0000844054" "0000407385" "0000843954" "0000407385" "0000844055" "0000407386" "0000843955" "0000407386" "0000844056" "0000407387" "0000843956" "0000407387" "0000844057" "0000407388" "0000843957" "0000407388" "0000844058" 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"0000407430" "0000843999" "0000407430" "0000844095" "0000407431" "0000844000" "0000407431" "0000844096" "0000407432" "0000844001" "0000407433" "0000844002" "0000407433" "0000844097" "0000407434" "0000844003" "0000407434" "0000844098" "0000407435" "0000844004" "0000407435" "0000844099" "0000407436" "0000844005" "0000407436" "0000844100" "0000407437" "0000844006" "0000407437" "0000844101" "0000407438" "0000844007" "0000407438" "0000844102" "0000407439" "0000844008" "0000407439" "0000844103" "0000407440" "0000844009" "0000407440" "0000844104" "0000407441" "0000844010" "0000407441" "0000844105" "0000407442" "0000844011" "0000407443" "0000844012" "0000407443" "0000844106" "0000407444" "0000844013" "0000407444" "0000844107" "0000407445" "0000844014" "0000407445" "0000844108" "0000420957" "0000881371" "0000420957" "0000881372" "0000421282" "0000881973" "0000421282" "0000881974" "0000421283" "0000881975" "0000421283" "0000881976" "0000421284" "0000881977" "0000421284" "0000881978" "0000421285" 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