Full data view for gene PAH

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

362 entries on 4 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.1066-11G>A r.(=) p.(=) Unknown - pathogenic g.103237568C>T g.102843790C>T PAH(NM_000277.3):c.1066-11G>A - PAH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1066-11G>A r.(=) p.(=) Unknown - pathogenic g.103237568C>T g.102843790C>T PAH(NM_000277.3):c.1066-11G>A - PAH_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1066-11G>A r.(=) p.(=) Parent #1 - pathogenic g.103237568C>T g.102843790C>T - - PAH_000039 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030855 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat38 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat39 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat113 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat114 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chiapas - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat22 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat51 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat67 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.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat75 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat83 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Jalisco - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat90 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Puebla - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat94 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Colima - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat105 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat115 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Veracruz - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.(1065_1066ins1066-9_1066-1) p.(Gln355_Tyr356insGlyLeuGln) Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat118 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Guerrero - - - - 1 Liliana Fernández
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F3C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F30C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F31C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F38C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F7C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F10C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F23C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F53C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 10i c.1066-11G>A r.spl p.? Unknown - pathogenic g.103237568C>T g.102843790C>T IVS10–11 - PAH_000039 combination of alleles not reported PubMed: Yan 2019 - - Germline - 3/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 3 Johan den Dunnen
+/. 10i c.1066-11G>A r.spl p.? Unknown - pathogenic g.103237568C>T g.102843790C>T IVS10–11 - PAH_000039 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 10i c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T IVS10-11G>A - PAH_000039 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 4/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 10i c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T IVS10-11G>A - PAH_000039 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 4/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 10i c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T IVS10-11G>A - PAH_000039 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 4/214 case chromosomes - - - DNA DHPLC, MLPA, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 10i c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T IVS10-11G>A - PAH_000039 no variant 2nd chromosome PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 4/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU B5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C5 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Groselj 2012 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Groselj 2012 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S7 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S17 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S6 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T - - - PAH_000039 - PubMed: Trujillano 2014 - rs5030855 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S21 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic g.103237568C>T g.102843790C>T - - PAH_000039 no variant 2nd chromosome PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 5/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 4/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 3/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 3/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - 1/122 cases PKU - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #1 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA MLPA, SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.1066-11G>A r.spl p.? Parent #2 - pathogenic (recessive) g.103237568C>T g.102843790C>T - - PAH_000039 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
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