Full data view for gene PAH

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

122 entries on 2 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     
?/. 7 c.842C>T r.(?) p.(Pro281Leu) Unknown - VUS g.103246593G>A g.102852815G>A - - PAH_000003 - PAH record 309 - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.842C>T r.(?) p.(Pro281Leu) Unknown - pathogenic g.103246593G>A g.102852815G>A PAH(NM_000277.3):c.842C>T (p.P281L) - PAH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.842C>T r.(?) p.(Pro281Leu) Maternal (confirmed) - pathogenic g.103246593G>A g.102852815G>A - - PAH_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - PKU - - - - - - - - - - - 1 Belen Perez
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A - - - PAH_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PKU M007 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A - - - PAH_000003 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PKU M010 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Paternal (confirmed) ACMG pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 ACMG PVS1, PM1, PM2, PM5, PP2, PP3, PP5 PubMed: Marinakis 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20079 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F4C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F12C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F13C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F33C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F46C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F19C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F40C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F52C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F61C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat21 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Unknown - pathogenic g.103246593G>A g.102852815G>A - - PAH_000003 combination of alleles not reported PubMed: Yan 2019 - - Germline - 1/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Unknown - pathogenic g.103246593G>A g.102852815G>A - - PAH_000003 combination of alleles not reported PubMed: Yan 2019 - - Germline - 2/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 2 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 16/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A - - - PAH_000003 - PubMed: Trujillano 2014 - rs5030851 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A - - - PAH_000003 - PubMed: Trujillano 2014 - rs5030851 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A - - - PAH_000003 - PubMed: Trujillano 2014 - rs5030851 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Unknown - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 combination of variants not reported PubMed: Yu 2014 - - Germline - 3/122 cases PKU - - - DNA SSCA, SEQ - - PKU - PubMed: Yu 2014 - - - China - - - - - 3 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 7 c.842C>T r.(?) p.(Pro281Leu) Parent #2 - pathogenic (recessive) g.103246593G>A g.102852815G>A - - PAH_000003 - PubMed: Ferreira 2021 - - Germline - 15/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat37 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat48 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat56 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat58 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat161 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat182 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat183 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat226 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat234 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat248 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat288 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat299 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat300 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat304 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat320 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat324 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat337 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat345 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat356 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat367 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat410 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat439 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat458 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat468 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat488 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat543 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat544 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat546 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Both (homozygous) - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat599 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.842C>T r.(?) p.(Pro281Leu) Parent #1 - pathogenic (recessive) g.103246593G>A g.102852815G>A P281L - PAH_000003 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat622 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
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