Full data view for gene F9

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

68 entries on 1 page. Showing entries 1 - 68.
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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     
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Green et al., 1992 - - Unknown ? - - - - DNA ? - - HEMB - PubMed: Green et al., 1992 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Tsang et al., 1988 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Tsang et al., 1988 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Poort et al., 1989a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Poort et al., 1989a - M ? Netherlands - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Green et al., 1989 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Green et al., 1989 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Green et al., 1990 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Green et al., 1990 - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Wang et al., 1990b - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Wang et al., 1990b - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Canada) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Chen et al., 1991b - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Chen et al., 1991b - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Ludwig et al., 1992a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Ludwig et al., 1992a - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Ludwig et al., 1992a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Ludwig et al., 1992a - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Knobloch et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Knobloch et al., 1993 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Knobloch et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Knobloch et al., 1993 - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - 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
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Thompson & Chen, 1992 - - Unknown ? - - - - ? ? - - HEMB - PubMed: Thompson & Chen, 1992 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Bottema et al., 1991a - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1991a - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Poon et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMB - PubMed: Poon et al., 1993 - F ? (Canada) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: David et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMB - PubMed: David et al., 1993 - M ? Portugal - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - 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
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Ghanem et al., 1993 - - Unknown ? - - - - DNA DGGE, PCR, SEQ - - HEMB - PubMed: Ghanem et al., 1993 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Aguilar-Martinez et al., 1994b - - Unknown ? - - - - DNA PCR, SEQ, SSCA - - HEMB - PubMed: Aguilar-Martinez et al., 1994b - M ? France - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Tartary et al., 1993 - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMB - PubMed: Tartary et al., 1993 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Onay et al., 2003 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Onay et al., 2003 - M ? Turkey - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Tartary et al., 1993 - - Unknown ? - - - - DNA DGGE, PCR, SEQ, Southern - - HEMB - PubMed: Tartary et al., 1993 - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Bottema et al., 1993 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Bottema et al., 1993 - M ? (United States) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Brazil) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (United Kingdom (Great Britain)) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - 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
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - 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
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Czech Republic) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Heit et al., 1998 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Heit et al., 1998 - M ? Peru - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Liu et al., 2000 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Liu et al., 2000 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Liu et al., 2000 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Liu et al., 2000 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Canada) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Canada) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Canada) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Canada) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Germany) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (France) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Jayandharan et al., 2003 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Jayandharan et al., 2003 - M ? (India) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Portugal) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - Unpublished - - Unknown ? - - - - ? ? - - HEMB - Unpublished - M ? (Portugal) - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - DNA CSCE, DHPLC, PCR, SEQ - - HEMB - PubMed: Belvini et al., 2005 - M ? Italy - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Radic et al., 2013 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Radic et al., 2013 - M ? Argentina - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Radic et al., 2013 - - Unknown ? - - - - DNA CSCE, PCR, SEQ - - HEMB - PubMed: Radic et al., 2013 - M ? Argentina - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Yu et al., 2012 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Yu et al., 2012 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/+? 8 c.1136G>A r.(?) p.(Arg379Gln) Maternal (inferred) EAHAD-CFDB VUS g.138643980G>A g.139561821G>A - - F9_000616 - PubMed: Yu et al., 2012 - - Unknown ? - - - - DNA PCR, SEQ - - HEMB - PubMed: Yu et al., 2012 - M ? China - - - - - 1 Geoffrey Kemball-Cook
+/. - c.1136G>A r.(?) p.(Arg379Gln) Unknown - pathogenic g.138643980G>A g.139561821G>A - - F9_000616 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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