Full data view for gene PAH

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

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic g.103234271G>A g.102840493G>A - - PAH_000010 missense variant, catalytic domain, PAH-activity 2% PubMed: Sterl 2013 - - Unknown yes - - - - DNA PCR, SEQ - - PKU - PubMed: Sterl 2013 - - - Austria - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Unknown - pathogenic g.103234271G>A g.102840493G>A PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W) - PAH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Arg408Trp) Unknown - pathogenic g.103234271G>A g.102840493G>A PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W) - PAH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Arg408Trp) Unknown - pathogenic g.103234271G>A g.102840493G>A PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W) - PAH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Arg408Trp) Unknown - pathogenic g.103234271G>A g.102840493G>A PAH(NM_000277.3):c.1222C>T (p.(Arg408Trp), p.R408W), PAH(NM_001354304.1):c.1222C>T (p.R408W) - PAH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic g.103234271G>A g.102840493G>A - - PAH_000010 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs5030858 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.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A - - - PAH_000010 - PubMed: Roman 2020, Journal: Roman 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - WES OTCD, PKU M003 PubMed: Roman 2020, Journal: Roman 2020 new-born screening - - United States - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Maternal (confirmed) ACMG pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 ACMG 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
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Maternal (confirmed) ACMG pathogenic (recessive) g.103234271G>A - - - PAH_000010 - PubMed: Luo 2023 - - Germline yes - - - - DNA PCR blood - PKU HPA-59 PubMed: Luo 2023 - M no China - - - - - 1 Xiaomei Luo
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Liang 2014 - - Germline - 4/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Liang 2014 - - Germline - 4/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Liang 2014 - - Germline - 4/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Liang 2014 - - Germline - 4/142 case chromosomes - - - DNA SEQ - - PKU - PubMed: Liang 2014 - - - Taiwan - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F8C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F11C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F16C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F17C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F25C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F29C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F34C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F36C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F39C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F43C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F45C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F47C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F48C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F49C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F50C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F51C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F54C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F55C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F58C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F59C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F60C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F63C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F65C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F66C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F69C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F70C1 PubMed: Gemperle-Britschgi 2016 family, 3 affected - - Romania - - - - - 3 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F70C2 PubMed: Gemperle-Britschgi 2016 sib - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F70C3 PubMed: Gemperle-Britschgi 2016 sib - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F71C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F72C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F73C1 PubMed: Gemperle-Britschgi 2016 family, 2 affected - - Romania - - - - - 2 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F73C2 PubMed: Gemperle-Britschgi 2016 sib - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F74C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA MLPA, PCR, RT-PCR, SEQ - - PKU F75C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F79C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F80C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F1C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F14C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F21C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F26C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F42C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F44C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F67C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F68C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. - c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Gemperle-Britschgi 2016 - - Germline - - - - - DNA SEQ - - PKU F81C PubMed: Gemperle-Britschgi 2016 - - - Romania - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Unknown - pathogenic g.103234271G>A g.102840493G>A - - PAH_000010 combination of alleles not reported PubMed: Yan 2019 - - Germline - 7/253 cases classic PKU - - - DNA SEQ - - PKU - PubMed: Yan 2019 - - - China China-NW - - - - 7 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Unknown - pathogenic g.103234271G>A g.102840493G>A - - PAH_000010 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
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Both (homozygous) - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 no variant 2nd chromosome PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #1 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 no variant 2nd chromosome PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
+/. 12 c.1222C>T r.(?) p.(Arg408Trp) Parent #2 - pathogenic (recessive) g.103234271G>A g.102840493G>A - - PAH_000010 - PubMed: Groselj 2012, PubMed: Tansek 2012 - - Germline - 63/214 case chromosomes - - - DNA DHPLC, SEQ - - PKU - PubMed: Groselj 2012, PubMed: Tansek 2012 - - - Slovenia - - - - - 1 Johan den Dunnen
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