Full data view for gene PAH

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

75 entries on 1 page. Showing entries 1 - 75.
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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.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic g.103246707C>T g.102852929C>T PAH(NM_000277.3):c.728G>A (p.R243Q) - PAH_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jin 2021 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS PKU Pat02 PubMed: Jin 2021 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jin 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS PKU Pat05 PubMed: Jin 2021 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jin 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS PKU Pat08 PubMed: Jin 2021 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat80 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico CDMX - - - - 1 Liliana Fernández
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat81 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
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat82 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Chihuahua - - - - 1 Liliana Fernández
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat57 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Nuevo León - - - - 1 Liliana Fernández
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-5 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-7 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline/De novo (untested) yes - - - - DNA SEQ-NG blood - PKU HPA-10 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-21 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline ? - - - - DNA SEQ-NG blood - PKU HPA-24 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-36 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-56 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-57 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline ? - - - - DNA SEQ-NG blood - PKU HPA-63 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-66 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Paternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-73 PubMed: Luo 2023 - F no China - - - - - 1 Xiaomei Luo
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Maternal (confirmed) ACMG pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Luo 2023 - - Germline yes - - - - DNA SEQ-NG blood - PKU HPA-89 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. - c.728G>A r.(?) p.(Arg243Gln) Both (homozygous) - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Liang 2014 - - Germline - 6/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Liang 2014 - - Germline - 6/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Liang 2014 - - Germline - 6/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Liang 2014 - - Germline - 6/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Liang 2014 - - Germline - 6/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat1 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA MLPA, PCR, SEQ - - PKU Pat3 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat12 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat24 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat5 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat6 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat8 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic g.103246707C>T g.102852929C>T - - PAH_000086 combination of alleles not reported PubMed: Yan 2019 - - Germline - 81/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 81 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic g.103246707C>T g.102852929C>T - - PAH_000086 combination of alleles not reported PubMed: Yan 2019 - - Germline - 44/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 44 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic g.103246707C>T g.102852929C>T - - PAH_000086 combination of alleles not reported PubMed: Yan 2019 - - Germline - 8/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 8 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Trujillano 2014 - rs62508588 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Trujillano 2014 - rs62508588 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E3 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Trujillano 2014 - rs62508588 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G12 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Trujillano 2014 - rs62508588 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU G8 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Trujillano 2014 - rs62508588 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S13 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T - - - PAH_000086 - PubMed: Trujillano 2014 - rs62508588 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU S14 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 combination of variants not reported PubMed: Yu 2014 - - Germline - 26/122 cases PKU - - - DNA SSCA, SEQ - - PKU - PubMed: Yu 2014 - - - China - - - - - 26 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Ferreira 2021 - - Germline - 6/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Ferreira 2021 - - Germline - 6/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Ferreira 2021 - - Germline - 6/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Ferreira 2021 - - Germline - 6/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Ferreira 2021 - - Germline - 6/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Ferreira 2021 - - Germline - 6/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Both (homozygous) - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat95 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Both (homozygous) - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat187 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat296 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat347 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat457 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Both (homozygous) - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat470 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Both (homozygous) - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat565 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Both (homozygous) - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Dobrowolski 2009 - - Germline - - - - - DNA MCA, SEQ - - PKU Pat56 PubMed: Dobrowolski 2009 - - - Poland - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 combination of alleles not shown PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU - PubMed: Bueno 2013 - - - Spain Andalusia - - - - 3 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Bueno 2013 - - Germline - 5/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 combination of alleles not reported PubMed: Hennermann 2000 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Hennermann 2000 - - - Germany - - - - - 3 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Hennermann 2000 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU PatLH PubMed: Hennermann 2000 - - - Germany - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Hennermann 2000 - - Germline - 5/580 chromosomes PKU - - - DNA SEQ - - PKU PatRLa/RLb PubMed: Hennermann 2000 - - - Germany - - - - - 2 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Perez-Duenas 2004 - - Germline - 2/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Perez-Duenas 2004 - - Germline - 1/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Parent #2 - pathogenic (recessive) g.103246707C>T g.102852929C>T R243Q - PAH_000086 - PubMed: Perez-Duenas 2004 - - Germline - 221/580 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Perez-Duenas 2004 - - - Spain - - - - - 1 Johan den Dunnen
?/. 7 c.728G>A r.(?) p.(Arg243Gln) Unknown - VUS g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Hillert 2020, data copied from the BIOPKU database with 3D model - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Wang 2019 - - Germline - 5/24 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 5 Johan den Dunnen
+/. - c.728G>A r.(?) p.(Arg243Gln) Unknown - pathogenic g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Wang 2019 - - Germline - 3/36 case chromosomes - - - DNA SEQ - - ? - PubMed: Wang 2019 screening 401,660 newborns for inborn errors of metabolism - - China - - - - - 3 Johan den Dunnen
+?/. - c.728G>A r.(?) p.(Arg243Gln) Parent #1 - likely pathogenic g.103246707C>T g.102852929C>T - - PAH_000086 - PubMed: Navarrete 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - 119-gene panel metabolic syndrome Pat65 PubMed: Navarrete 2019 newborn screening - - Spain - - - - - 1 Johan den Dunnen
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