Full data view for gene F8

Information The variants shown are described using the NM_000132.3 transcript reference sequence.

86 entries on 1 page. Showing entries 1 - 86.
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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     
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Cutler et al., 2002 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: Cutler et al., 2002 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Cutler et al., 2002 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: Cutler et al., 2002 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: David et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: David et al., 2006 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Fernández-López et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Fernández-López et al., 2005 - M ? Spain - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Fernández-López et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Fernández-López et al., 2005 - M ? Spain - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Fernández-López et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Fernández-López et al., 2005 - M ? Spain - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Fernández-López et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Fernández-López et al., 2005 - M ? Spain - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Green et al., 2008 - - Unknown ? - - - - DNA CMC, DHPLC, PCR, SEQ - - HEMA - PubMed: Green et al., 2008 - M ? United Kingdom (Great Britain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2005 - M ? India - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Liu et al., 1998 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 1998 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Liu et al., 1998 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 1998 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Liu et al., 2002 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2002 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Liu et al., 2002 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2002 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Liu et al., 2002 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2002 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Theophilus et al., 2001 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Theophilus et al., 2001 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Theophilus et al., 2001 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Theophilus et al., 2001 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Tizzano et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Tizzano et al., 2005 Related to individual 00085401 M ? (Spain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - PubMed: Tizzano et al., 2005 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Tizzano et al., 2005 Related to individual 00085400 M ? (Spain) - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Unknown EAHAD-CFDB likely pathogenic g.154132225C>T g.154903950C>T - - F8_001207 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 18 c.5954G>A r.(?) p.(Arg1985Gln) Maternal (inferred) EAHAD-CFDB VUS g.154132225C>T g.154903950C>T - - F8_001207 no functional analysis result PubMed: Johnsen et al., 2017 - - Unknown ? - - - - DNA SEQ-NG-I - - HEMA - PubMed: Johnsen et al., 2017 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/. - c.5954G>A r.(?) p.(Arg1985Gln) Unknown - pathogenic g.154132225C>T g.154903950C>T F8(NM_000132.3):c.5954G>A (p.R1985Q) - F8_001207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5954G>A r.(?) p.(Arg1985Gln) Unknown - pathogenic g.154132225C>T g.154903950C>T F8(NM_000132.3):c.5954G>A (p.R1985Q) - F8_001207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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