Full data view for gene F9

Information The variants shown are described using the NM_000133.3 transcript reference sequence.

85 entries on 1 page. Showing entries 1 - 85.
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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     
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Diuguid et al., 1989 - - Unknown ? - - - - protein SEQ - - HEMB - PubMed: Diuguid et al., 1989 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Koeberl et al., 1989 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Koeberl et al., 1989 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Green et al., 1991 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Green et al., 1991 - M ? Sweden - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Green et al., 1991 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Green et al., 1991 - M ? Sweden - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Green et al., 1991 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Green et al., 1991 - M ? Sweden - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Green et al., 1991 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Green et al., 1991 - M ? Sweden - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Green et al., 1991 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Green et al., 1991 - M ? Sweden - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Suehiro et al., 1990 - - Unknown ? - - - - protein SEQ - - HEMB - PubMed: Suehiro et al., 1990 - M ? (Japan) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Bottema et al., 1990c - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1990c - M ? Korea, South (Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Van de Water et al., 1996 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Van de Water et al., 1996 - M ? New Zealand - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Bottema et al., 1991a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1991a - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Bottema et al., 1991b - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1991b - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Lin & Shen, 1993 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Lin & Shen, 1993 - M ? (Taiwan) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: David et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMB - PubMed: David et al., 1993 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Saad et al., 1994 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Saad et al., 1994 - F ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Bicocchi et al., 2006 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bicocchi et al., 2006 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Green et al., 1991 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Green et al., 1991 - M ? Sweden - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Aguilar-Martinez et al., 1994c - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMB - PubMed: Aguilar-Martinez et al., 1994c - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Netherlands) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Wulff et al., 1995 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Wulff et al., 1995 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Chen et al., 1995 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Chen et al., 1995 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Bottema et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1993 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Saad et al., 1994 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Saad et al., 1994 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Denmark) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Van de Water et al., 1996 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Van de Water et al., 1996 - M ? New Zealand - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Costa et al., 2000a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Costa et al., 2000a - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Wulff et al., 2001 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMB - Wulff et al., 2001 Greifswald Hemophilia B Study. In Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 (pp. 144-153). Berlin / Heidelberg, Germany: Springer-Verlag M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Costa et al., 2000a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Costa et al., 2000a - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Wulff et al., 2001 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMB - Wulff et al., 2001 Greifswald Hemophilia B Study. In Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 (pp. 144-153). Berlin / Heidelberg, Germany: Springer-Verlag M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Wulff et al., 1999 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Wulff et al., 1999 - M ? Poland - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Attali et al., 1999 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Attali et al., 1999 - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Wulff et al., 2001 - - Unknown ? - - - - DNA PCR, SEQ, Southern - - HEMB - Wulff et al., 2001 Greifswald Hemophilia B Study. In Scharrer I, Schramm W (Ed.), 30th Hemophilia Symposium Hamburg 1999 (pp. 144-153). Berlin / Heidelberg, Germany: Springer-Verlag M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Chen et al., 1995 - - Unknown ? - - - - DNA HD, PCR, SEQ - - HEMB - PubMed: Chen et al., 1995 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - F ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Portugal) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Portugal) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Noyes et al., 1983 - - Unknown ? - - - - protein SEQ - - HEMB - PubMed: Noyes et al., 1983 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Yu et al., 2012 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Yu et al., 2012 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Miller et al., 2012 - - Unknown ? - - - - DNA MLPA, PCR, SEQ - - HEMB - PubMed: Miller et al., 2012 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+/+? 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - PubMed: Miller et al., 2012 - - Unknown ? - - - - DNA MLPA, PCR, SEQ - - HEMB - PubMed: Miller et al., 2012 - M ? United States - - - - - 1 Geoffrey Kemball-Cook
+?/. 6 c.572G>A r.(?) p.(Arg191His) Maternal (inferred) EAHAD-CFDB VUS g.138633272G>A g.139551113G>A - - F9_000338 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
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