Full data view for gene PAH

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

116 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     
+/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G PAH(NM_000277.3):c.194T>C (p.I65T) - PAH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G PAH(NM_000277.3):c.194T>C (p.I65T) - PAH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PKU M005 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES PKU M011 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+?/. - c.194T>C r.(?) p.(Ile65Thr) Paternal (confirmed) - likely pathogenic (recessive) g.103288671A>G - - - PAH_000145 - - - - Germline - - - - - DNA SEQ-NG - WES PKU 038P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat32 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - - - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat33 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Queretaro - - - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat52 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Zacatecas - - - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat53 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients F - Mexico Sonora - - - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat49 PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Durango - - - - 1 Liliana Fernández
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 - - Germline - - - - - DNA SEQ - - PKU Pat103 PubMed: Vela-Amieva 2015, Journal: Vela-Amieva 2015, PubMed: Vela-Amieva 2021, Journal: Vela-Amieva 2021 analysis 124 unelated patients M - Mexico Morelos - - - - 1 Liliana Fernández
+?/. - c.194T>C r.(?) p.(Ile65Thr) Unknown - likely pathogenic g.103288671A>G - PAH(NM_000277.3):c.194T>C (p.I65T) - PAH_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Lee 2008 - - Germline - - - - - DNA SEQ - - PKU Pat27 PubMed: Lee 2008 - - - Korea - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G - - PAH_000145 combination of alleles not reported PubMed: Yan 2019 - - Germline - 15/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 15 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G - - PAH_000145 combination of alleles not reported PubMed: Yan 2019 - - Germline - 6/150 cases moderate PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 6 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic g.103288671A>G g.102894893A>G - - PAH_000145 combination of alleles not reported PubMed: Yan 2019 - - Germline - 3/72 cases mild hyperphenylalaninemia - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 3 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Trujillano 2014 - rs75193786 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU A9 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Trujillano 2014 - rs75193786 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU D2 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Trujillano 2014 - rs75193786 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU E1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Trujillano 2014 - rs75193786 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU C11 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Trujillano 2014 - rs75193786 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU F1 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G - - - PAH_000145 - PubMed: Trujillano 2014 - rs75193786 Germline - - - - - DNA SEQ, SEQ-NG - gene panel PAH, GCH1, PTS, QDPR PKU H10 PubMed: Trujillano 2014 - - - Spain - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Unknown - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 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.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G [1169A>G];[194T>C];[1171A>G] - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Jeannesson-Thivisol 2015 - - Germline - - - - - DNA SEQ - - PKU - PubMed: Jeannesson-Thivisol 2015 - - - France - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Groselj 2012 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Groselj 2012 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Groselj 2012 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Groselj 2012 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Groselj 2012 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. 3 c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G - - PAH_000145 - PubMed: Ferreira 2021 - - Germline - 37/446 chromosomes PKU - - - DNA SEQ - - PKU - PubMed: Ferreira 2021 - - - Portugal - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Shirzadeh 2018 - - Germline - - - - - DNA ARMS, SEQ - - PKU Pat64 PubMed: Shirzadeh 2018 - - - Iran - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Both (homozygous) - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Eiken 1996, PubMed: Eiken 1996 - - Germline - - - - - DNA DGGE, SEQ, SSCA - - PKU - PubMed: Eiken 1996, PubMed: Eiken 1996 - - - Norway - - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat8 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat17 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat27 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat41 PubMed: Bueno 2013 - F - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #1 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU Pat51 PubMed: Bueno 2013 - M - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
+/. - c.194T>C r.(?) p.(Ile65Thr) Parent #2 - pathogenic (recessive) g.103288671A>G g.102894893A>G I65T - PAH_000145 - PubMed: Bueno 2013 - - Germline - 13/294chromosomes PKU - - - DNA DGGE, SEQ - - PKU patient PubMed: Bueno 2013 - - - Spain Andalusia - - - - 1 Johan den Dunnen
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