Full data view for gene PKLR

Information The variants shown are described using the NM_000298.5 transcript reference sequence.

79 entries on 1 page. Showing entries 1 - 79.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 9 c.1436G>A Amish r.(spl?) p.(Arg479His) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF; {PKLR:479his} PubMed: Kanno 1994, OMIM:var006 - - Germline - - Fnu4HI- - - DNA SEQ - - pyr.kin. deficiency FamPatII6/JY/AY PubMed: Kanno 1994 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F;M - United States Amish - - - - 3 Richard van Wijk
+/. 10 c.1436G>A - r.[1436g>a,1270_1436del,1270_1503del,1270_1618del] p.[Arg479His,Ile424fs,Ile424_Gln501del] Maternal (confirmed) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF: reduced mRNA expression (12/63 clones) PubMed: Van Wijk 2004 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - pyr.kin. deficiency patient PubMed: Van Wijk 2004 - F - Netherlands - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 {PKLR:479his} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam13 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam17 PubMed: Pissard 2006 family, affected twin pair - - France - - - - - 2 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 {PKLR:479his} PubMed: Pissard 2006 - - Germline - - - - - DNA DHPLC, SEQ - - pyr.kin. deficiency Fam20 PubMed: Pissard 2006 - - - France - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Maternal (confirmed) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Pissard 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat1 PubMed: Pissard 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents - - France white - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Unknown - pathogenic g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} {PMID:Van Wijk unpublished} - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Netherlands - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Kugler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat9 PubMed: Kugler 2000 - F - Germany - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Beutler 2000 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat14 PubMed: Beutler 2000 - - - United States white - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Unknown - pathogenic g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Kedar 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - India - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Unknown - pathogenic g.155262968C>T g.155293177C>T - - PKLR_000014 {PKLR:479his} PubMed: Kedar 2007 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - India - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency AB PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 {PKLR:479his} PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency UN PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Unknown - pathogenic g.155262968C>T g.155293177C>T - - PKLR_000014 NF, {PKLR:479his} PubMed: Von Löhneysen 2012 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - - - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Unknown - pathogenic g.155262968C>T g.155293177C>T - - PKLR_000014 {PKLR:479his} PubMed: Von Löhneysen 2012 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - - - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.(?) p.(Arg479His) Unknown - pathogenic g.155262968C>T g.155293177C>T - - PKLR_000014 {PKLR:479his} {PMIDVan Wijk unpublished} - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency - - - - - Netherlands - - - - - 1 Richard van Wijk
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat23 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat24 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat25 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat26 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat27 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat28 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat29 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat30 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat31 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat32 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat33 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat34 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat35 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat36 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat37 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat38 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat39 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat40 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat41 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat42 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat43 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat44 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat45 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat46 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat47 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat48 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat49 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat50 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat51 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat52 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat53 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat54 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat55 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat56 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat57 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat58 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat59 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat60 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat61 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat62 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat63 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat64 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat65 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat66 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat67 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat68 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat69 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat70 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat71 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat72 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat73 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat158 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat159 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat160 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Both (homozygous) - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat210 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat223 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Parent #1 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat225 PubMed: Bianchi 2020 - - - United States Amish - - - - 1 Johan den Dunnen
+/. 10 c.1436G>A - r.spl p.(Arg479His,?) Parent #2 - pathogenic (recessive) g.155262968C>T g.155293177C>T - - PKLR_000014 - PubMed: Bianchi 2020 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency Pat192 PubMed: Bianchi 2020 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1436G>A - r.(?) p.(Arg479His) Parent #2 - pathogenic (recessive) g.155262968C>T - - - PKLR_000014 - PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency MS PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. - c.1436G>A - r.(?) p.(Arg479His) Parent #2 - pathogenic (recessive) g.155262968C>T - - - PKLR_000014 - PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency SR PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. - c.1436G>A - r.(?) p.(Arg479His) Parent #2 - pathogenic (recessive) g.155262968C>T - - - PKLR_000014 - PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency BM PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. - c.1436G>A - r.(?) p.(Arg479His) Parent #2 - pathogenic (recessive) g.155262968C>T - - - PKLR_000014 - PubMed: Kedar 2009 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency PP PubMed: Kedar 2009 - - - India - - - - - 1 Richard van Wijk
+/. - c.1436G>A - r.(?) p.(Arg479His) Parent #2 - pathogenic (recessive) g.155262968C>T - - - PKLR_000014 - PubMed: Aizawa 2003 - - Germline - - - - - DNA SEQ - - pyr.kin. deficiency patient PubMed: Aizawa 2003 - - - Japan - - - - - 1 Richard van Wijk
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