Full data view for gene F8

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

79 entries on 1 page. Showing entries 1 - 79.
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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     
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Arruda et al., 1995 - - Unknown ? - - - - DNA PCR, SEQ, Southern, SSCA - - HEMA - PubMed: Arruda et al., 1995 - M ? Brazil - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Bogdanova et al., 2001 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2001 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Bogdanova et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Bogdanova et al., 2007 - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Castaman et al., 2009 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Castaman et al., 2009 - M ? (Italy) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Castaman et al., 2009 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Castaman et al., 2009 - M ? (Italy) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Castaman et al., 2009 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Castaman et al., 2009 - M ? (Italy) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: David et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: David et al., 2006 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (Argentina) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Diamond et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Diamond et al., 1992 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Diamond et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Diamond et al., 1992 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Habart et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Habart et al., 2003 - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Higuchi et al., 1991b - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMA - PubMed: Higuchi et al., 1991b - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Jayandharan et al., 2005 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMA - PubMed: Jayandharan et al., 2005 - M ? India - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Jonsdottir et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Jonsdottir et al., 1992 - M ? Iceland - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Jonsdottir et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Jonsdottir et al., 1992 - M ? Iceland - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Jonsdottir et al., 1992 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Jonsdottir et al., 1992 - M ? Iceland - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished Carrier F ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Klopp et al., 2002 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Klopp et al., 2002 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Laurie et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Laurie et al., 2007 - M ? New Zealand - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Laurie et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Laurie et al., 2007 - M ? New Zealand - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Laurie et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Laurie et al., 2007 - M ? New Zealand - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Laurie et al., 2007 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Laurie et al., 2007 - M ? New Zealand - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Lin et al., 2008 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Lin et al., 2008 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Lin et al., 2008 - - Unknown ? - - - - DNA DHPLC, PCR, SEQ - - HEMA - PubMed: Lin et al., 2008 - M ? Taiwan - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Liu et al., 2000 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMA - PubMed: Liu et al., 2000 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? - - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: McGinniss et al., 1993 - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMA - PubMed: McGinniss et al., 1993 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Naylor et al., 1993 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Naylor et al., 1993 - F ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 Related to individual 00086117 M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 Related to individual 00086116 M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Repessé et al., 2007 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Repessé et al., 2007 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Santagostino et al., 2010 - - Unknown ? - - - - DNA PCR, SEQ - - HEMA - PubMed: Santagostino et al., 2010 - M ? (Italy) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Schwaab et al., 1995a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Schwaab et al., 1995a - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Schwaab et al., 1995a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Schwaab et al., 1995a - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Schwaab et al., 1995a - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Schwaab et al., 1995a - M ? Germany - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Suzuki et al., 1997 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMA - PubMed: Suzuki et al., 1997 - M ? (Japan) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Timur et al., 2001 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMA - PubMed: Timur et al., 2001 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown EAHAD-CFDB likely pathogenic g.154091400G>A g.154863125G>A - - F8_000065 - PubMed: Waseem et al., 1999 - - Unknown ? - - - - DNA CMC, PCR, SEQ - - HEMA - PubMed: Waseem et al., 1999 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
./. 23 c.6532C>T r.(?) p.(Arg2178Cys) Unknown - - g.154091400G>A g.154863125G>A - - F8_000065 - Unpublished - - Unknown ? - - - - DNA ? - - HEMA - Unpublished - F ? - - - - - - 1 Geoffrey Kemball-Cook
+/. - c.6532C>T r.(?) p.(Arg2178Cys) Unknown - pathogenic g.154091400G>A g.154863125G>A F8(NM_000132.3):c.6532C>T (p.R2178C) - F8_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
+/+? 23 c.6532C>T r.(?) p.(Arg2178Cys) Maternal (inferred) EAHAD-CFDB VUS g.154091400G>A g.154863125G>A - - F8_000065 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
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