Full data view for gene CBS

Information The variants shown are described using the NM_000071.2 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     

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Owner     
+/. 10 c.919G>A - r.(?) p.Gly37Ser Unknown - NA g.44483098C>T g.43062988C>T - - CBS_000122 expression cloning in E.coli, CBs activity 0 PubMed: Hu 1993 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #2 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kraus 1999, V Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD R510 (1281) PubMed: Kraus 1999, V Shih - - - - Ir, Fr/Engl, Fr - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamIPatL166 PubMed: Hu 1993 - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamIPatL198 PubMed: Hu 1993 - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamIIIPatL246 PubMed: Hu 1993 - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamIIIPatF49 PubMed: Hu 1993 - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamVPatL203 PubMed: Hu 1993 - - - - German/French, Dutch, Irish, English - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamVIPatL215 PubMed: Hu 1993 - - - - English, Irish, German/Italian, German - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamIVPatL183 PubMed: Hu 1993 - - - England;Scotland - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamVIIPatL219 PubMed: Hu 1993 - - - Ireland;Ukraine Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Hu 1993 - - Germline - - AluI+ - - DNA SEQ - - CBSD FamIIPatL171 PubMed: Hu 1993 - - - Scotland;France French/Scottish, French - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Gordon - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Gordon - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Gordon - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Gordon - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: de Franchis 1999 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: de Franchis 1999 - - - United Kingdom (Great Britain) England - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat002 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat010 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat061 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat117 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat157 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat224 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat227 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat062/239 (sibs) PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat216 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat215/241 (sibs) PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat066/067 (sibs) PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat240 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat008 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat024 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 no variant 2nd allele identified PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat228 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gallager 1998 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat040 (cousin of 245/248 PubMed: Gallager 1998 - - - Ireland Irish - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Gallagher - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Gallagher - - - Norway - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Shih - - - Ireland Irish - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Shih - - - Brazil Portugal - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Shih - - - Brazil Portugal - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Shih - - - Portugal - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kraus 1999, V Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD MGL66 PubMed: Kraus 1999, V Shih - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kraus 1999, V Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD MGL246 PubMed: Kraus 1999, V Shih - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Shih - - - United States African American - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Shih - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Shih - - - United Kingdom (Great Britain) England - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Gordon - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Gordon - - - Australia - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Gordon - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Gordon - - - Australia - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kruger - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kruger - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kruger - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kruger - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.919g>a p.Gly307Ser Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Tsai 1997 - - Germline - - AluI+ - - DNA, RNA RT-PCR, SEQ - - CBSD Fam (2 sibs) PubMed: Tsai 1997 - - - - English, Irish, Dutch, German - - - pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Tsai 1996 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat7 PubMed: Tsai 1996 - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Tsai 1996 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat8 PubMed: Tsai 1996 - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Tsai - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Tsai - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kim 1997 - - Germline - - AluI+ - - DNA SEQ - - CBSD PatN3 PubMed: Kim 1997 - M - Norway - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kim 1997 - - Germline - - AluI+ - - DNA SEQ - - CBSD PatN5 PubMed: Kim 1997 - F - Norway - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Both (homozygous) - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kim 1997 - - Germline - - AluI+ - - DNA SEQ - - CBSD PatN10 PubMed: Kim 1997 - M - Norway - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #2 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: de Franchis 1999 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat3064 PubMed: de Franchis 1999 - - - United Kingdom (Great Britain) England - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #2 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kruger 2003 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat2 PubMed: Kruger 2003 - - - - white - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Pro290Leu) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - CBS mutation database, Kraus - - Germline - - AluI+ - - DNA SEQ - - CBSD - CBS mutation database, Kraus - - - - - - - - - 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Unknown - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Gaustadnes 2002 - - Germline - - AluI+ - - DNA SEQ - - CBSD - PubMed: Gaustadnes 2002 - - - United Kingdom (Great Britain) Anglo-Celtic - - - not pyridoxine responsive 1 Johan den Dunnen
+/. 10 c.919G>A - r.(?) p.(Gly307Ser) Parent #1 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Evangelisti 2008 - - Germline - - AluI+ - - DNA SEQ - - CBSD Pat2 PubMed: Evangelisti 2008 - - - Italy - - - - not pyridoxine responsive 1 Johan den Dunnen
+/. ? c.919G>A - r.919g>a p.Gly307Ser Parent #2 - pathogenic g.44483098C>T g.43062988C>T - - CBS_000122 - PubMed: Kruger 1995 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CBSD GM01128 PubMed: Kruger 1995 - - - - - - - - - 1 Johan den Dunnen
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