Full data view for gene PAH

Information The variants shown are described using the NM_000277.1 transcript reference sequence.

251 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T g.102852875C>T PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q) - PAH_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T g.102852875C>T PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q) - PAH_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T g.102852875C>T PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q) - PAH_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PKU M002 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T - PAH(NM_000277.3):c.782G>A (p.R261Q), PAH(NM_001354304.1):c.782G>A (p.R261Q) - PAH_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 no variant 2nd chromosome PubMed: Jin 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS PKU Pat09 PubMed: Jin 2021 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat86 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Nuevo León - - - - 1 Liliana Fernández
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat87 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Guanajuato - - - - 1 Liliana Fernández
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat55 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat59 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Michoacan - - - - 1 Liliana Fernández
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat63 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat76 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat84 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-46 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Luo 2023 - - Germline ? - - - - DNA SEQ-NG blood - PKU HPA-77 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic g.103246653C>T g.102852875C>T - - PAH_000076 unknown variant 2nd chromosome PubMed: Liang 2014 - - Germline - 1/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F14C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F18C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F23C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F52C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F61C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F67C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F76C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F16C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F27C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat7 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T g.102852875C>T - - PAH_000076 combination of alleles not reported PubMed: Yan 2019 - - Germline - 11/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 11 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T g.102852875C>T - - PAH_000076 combination of alleles not reported PubMed: Yan 2019 - - Germline - 7/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 7 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic g.103246653C>T g.102852875C>T - - PAH_000076 combination of alleles not reported PubMed: Yan 2019 - - Germline - 2/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 2 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 9/214 case chromosomes - - - DNA DHPLC, MLPA, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Trujillano 2014 - rs5030849 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Trujillano 2014 - rs5030849 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Trujillano 2014 - rs5030849 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T - - - PAH_000076 - PubMed: Trujillano 2014 - rs5030849 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Unknown - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 combination of variants not reported PubMed: Yu 2014 - - Germline - 1/122 cases PKU - - - DNA SSCA, SEQ - - PKU - PubMed: Yu 2014 - - - China - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #1 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.782G>A r.(?) p.(Arg261Gln) Parent #2 - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Ferreira 2021 - - Germline - 63/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Ferreira 2021 - - Germline - 63/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Ferreira 2021 - - Germline - 63/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Ferreira 2021 - - Germline - 63/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.782G>A r.(?) p.(Arg261Gln) Both (homozygous) - pathogenic (recessive) g.103246653C>T g.102852875C>T - - PAH_000076 - PubMed: Ferreira 2021 - - Germline - 63/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
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