Unique variants in the F9 gene

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

1113 entries on 12 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/+? 1 _1 c.-1215T>C r.(=) p.(=) EAHAD-CFDB unclassified g.138611709T>C g.139529550T>C - - F9_001119 - PubMed: Satoh et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+?, ?/. 2 _1 c.-822A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612102A>G g.139529943A>G - - F9_001120 - PubMed: Matsushita et al., 1990, PubMed: Rai & Winship, 1996 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1 c.-727T>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612197T>C g.139530038T>C - - F9_001121 - PubMed: Winship et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1 c.-590T>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612334T>G g.139530175T>G - - F9_001122 - PubMed: Hay et al., 1986 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 _1 c.-55G>A r.(=) p.(=) EAHAD-CFDB unclassified g.138612869G>A g.139530710G>A - - F9_000004 - PubMed: Heit et al., 1999, PubMed: Morgan et al., 1997, PubMed: Wulff et al., 1999 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1 c.-55G>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612869G>C g.139530710G>C - - F9_001102 - PubMed: Crossley et al., 1992 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _1 c.-55G>T r.(=) p.(=) EAHAD-CFDB unclassified g.138612869G>T g.139530710G>T - - F9_001103 - Unpublished, PubMed: Belvini et al., 2005 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1 c.-53A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612871A>G g.139530712A>G - - F9_001104 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1 c.-52C>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612872C>G g.139530713C>G - - F9_001105 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1 c.-52C>T r.(=) p.(=) EAHAD-CFDB unclassified g.138612872C>T g.139530713C>T - - F9_001106 - PubMed: Ketterling et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+?, ?/. 3 _1 c.-50T>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612874T>G g.139530715T>G - - F9_001107 - Unpublished, PubMed: Reijnen et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 _1 c.-49T>A r.(=) p.(=) EAHAD-CFDB unclassified g.138612875T>A g.139530716T>A - - F9_000008 - Unpublished, Wulff et al., 2001, PubMed: Reitsma et al., 1988 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 _1 c.-49T>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612875T>C g.139530716T>C - - F9_000009 - Unpublished, PubMed: Belvini et al., 2005, PubMed: Ghanem et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _1 c.-48G>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612876G>C g.139530717G>C - - F9_000010 - Unpublished, PubMed: Ketterling et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 29 _1 c.-35G>A r.(=) p.(=) EAHAD-CFDB unclassified g.138612889G>A g.139530730G>A - - F9_000011 - Unpublished, PubMed: Attali et al., 1999, PubMed: Bottema et al., 1993, PubMed: Coyle et al., 1994, 11 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 6 _1 c.-35G>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612889G>C g.139530730G>C - - F9_000012 - Unpublished, PubMed: Gispert et al., 1989, PubMed: Ljung et al., 2001, PubMed: Nguyen et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _1 c.-34A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612890A>G g.139530731A>G - - F9_000013 - PubMed: Saad et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _1 c.-34A>T r.(=) p.(=) EAHAD-CFDB unclassified g.138612890A>T g.139530731A>T - - F9_000014 - PubMed: Belvini et al., 2005, PubMed: Picketts et al., 1992 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 1 c.-24T>A r.(=) p.(=) EAHAD-CFDB unclassified g.138612900T>A g.139530741T>A - - F9_000015 - PubMed: Balraj et al., 2012, PubMed: Freedenberg & Black, 1991, PubMed: Nielsen et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-23T>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612901T>C g.139530742T>C - - F9_000016 - Wulff et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-22del r.(=) p.(=) EAHAD-CFDB unclassified g.138612902del g.139530743del - - F9_001123 - PubMed: Hall et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 1 c.-22T>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612902T>C g.139530743T>C - - F9_001124 - Unpublished, PubMed: Montejo et al., 1999, PubMed: Royle et al., 1991 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-21C>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612903C>G g.139530744C>G - - F9_001125 - Wulff et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-18A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612906A>G g.139530747A>G - - F9_000023 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-17A>C r.(=) p.(=) EAHAD-CFDB unclassified g.138612907A>C g.139530748A>C - - F9_001127 - Wulff et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 10 1 c.-17A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612907A>G g.139530748A>G - - F9_001126 - Unpublished, PubMed: Crossley et al., 1989, PubMed: Ghanem et al., 1993, PubMed: Koeberl et al., 1989, 2 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-17del r.(=) p.(=) EAHAD-CFDB unclassified g.138612907del g.139530748del - - F9_000021 - PubMed: Reitsma et al., 1989 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.-5A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138612919A>G g.139530760A>G - - F9_000024 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 _1i c.(?_-1)_(88+1_89-1)del r.(?) p.? EAHAD-CFDB unclassified g.(?_138612923)_(138613012_138619168)del - - - F9_001128 - PubMed: Ketterling et al., 1994a, PubMed: Kwon et al., 2008, PubMed: Ludwig et al., 1989 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _3i c.(?_-1)_(277+1_278-1)del r.(?) p.? EAHAD-CFDB unclassified g.(?_138612923)_(138619546_138623234)del - - - F9_001129 - PubMed: Figueiredo, 1993, PubMed: Ludwig et al., 1989 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _5i c.(?_-1)_(520+1_521-1)del r.(?) p.? EAHAD-CFDB unclassified g.(?_138612923)_(138630651_138633220)del - - - F9_001130 - Wulff et al., 2001, PubMed: Miller et al., 2012 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 _6i c.(?_-1)_(723+1_724-1)del r.(?) p.? EAHAD-CFDB unclassified g.(?_138612923)_(138633424_138642899)del - - - F9_001131 - Unpublished, PubMed: Ljung et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 52 _1_8_ c.(?_-1)_(*1_?)del r.(?) p.? EAHAD-CFDB unclassified g.(?_138612923)_(138644231_?)del - - - F9_000000 - Unpublished, Wulff et al., 2001, PubMed: Anson et al., 1988, PubMed: Belvini et al., 2005, 19 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 _1_8_ c.[(?_-1)_(391+1_392-1)del; (520+1_521-1)_(*1_?)del] r.(?) p.? EAHAD-CFDB unclassified g.[(?_138612923)_(138623349_138630521)del;(138630651_138633220)_(138644231_?)del] - - - F9_001132 - PubMed: Ljung et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
?/. 1 1i_8 c.[89-835_724-139del; *829_*876del] r.(?) p.? EAHAD-CFDB unclassified g.[138618334_138642761del;138645059_138645106del] - - - F9_001117 - PubMed: Ketterling et al., 1994a - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+?, -?/. 2 1 c.8G>A r.(?) p.(Arg3His) EAHAD-CFDB likely benign, unclassified g.138612931G>A g.139530772G>A F9(NM_000133.3):c.8G>A (p.R3H) - F9_000025 VKGL data sharing initiative Nederland PubMed: Ludwig et al., 1992a - - CLASSIFICATION record, Unknown ? - - - - Geoffrey Kemball-Cook, VKGL-NL_Rotterdam
+/+?, +?/., -?/., ?/. 6 1 c.19A>T r.(?) p.(Ile7Phe) EAHAD-CFDB likely benign, unclassified, VUS g.138612942A>T g.139530783A>T F9(NM_000133.3):c.19A>T (p.I7F, p.(Ile7Phe)) - F9_000026 VKGL data sharing initiative Nederland Unpublished, Wulff et al., 2001, PubMed: Montejo et al., 1999, PubMed: Poon et al., 1993 - - CLASSIFICATION record, Unknown ? - - - - Geoffrey Kemball-Cook, VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/+? 1 1 c.28_29del r.(?) p.(Glu10Ilefs*17) EAHAD-CFDB unclassified g.138612951_138612952del g.139530792_139530793del - - F9_000881 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.30del r.(?) p.(Glu10Aspfs*11) EAHAD-CFDB unclassified g.138612953del g.139530794del - - F9_000027 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 1 c.50T>A r.(?) p.(Ile17Asn) EAHAD-CFDB unclassified g.138612973T>A g.139530814T>A - - F9_000028 - PubMed: Chen et al., 1995, PubMed: Green et al., 1993, PubMed: Thorland et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.51_52dup r.(?) p.(Cys18Serfs*4) EAHAD-CFDB unclassified g.138612974_138612975dup g.139530815_139530816dup - - F9_001133 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.53G>T r.(?) p.(Cys18Phe) EAHAD-CFDB unclassified g.138612976G>T g.139530817G>T - - F9_000029 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.55del r.(?) p.(Leu19Phefs*2) EAHAD-CFDB unclassified g.138612978del g.139530819del - - F9_000030 - Unpublished, PubMed: Ivaskevicius et al., 2001 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.59del r.(?) p.(Leu20*) EAHAD-CFDB unclassified g.138612982del g.139530823del - - F9_000031 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.59T>A r.(?) p.(Leu20*) EAHAD-CFDB unclassified g.138612982T>A g.139530823T>A - - F9_000033 - PubMed: Costa et al., 2000a - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.59T>C r.(?) p.(Leu20Ser) EAHAD-CFDB unclassified g.138612982T>C g.139530823T>C - - F9_000034 - PubMed: Belvini et al., 2005, PubMed: Liu et al., 2000 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1 c.60del r.(?) p.(Gly21Aspfs*21) EAHAD-CFDB unclassified g.138612983del g.139530824del - - F9_000035 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.61G>T r.(?) p.(Gly21*) EAHAD-CFDB unclassified g.138612984G>T g.139530825G>T - - F9_000036 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.62G>T r.(?) p.(Gly21Val) EAHAD-CFDB unclassified g.138612985G>T g.139530826G>T - - F9_000037 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.64T>G r.(?) p.(Tyr22Asp) EAHAD-CFDB unclassified g.138612987T>G g.139530828T>G - - F9_000038 - PubMed: Quadros et al., 2009 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.65_66del r.(?) p.(Tyr22Serfs*5) EAHAD-CFDB unclassified g.138612988_138612989del g.139530829_139530830del - - F9_000882 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.66T>A r.(?) p.(Tyr22*) EAHAD-CFDB unclassified g.138612989T>A g.139530830T>A - - F9_000039 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.68T>C r.(?) p.(Leu23Pro) EAHAD-CFDB unclassified g.138612991T>C g.139530832T>C - - F9_000040 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.71T>C r.(?) p.(Leu24Pro) EAHAD-CFDB unclassified g.138612994T>C g.139530835T>C - - F9_000041 - PubMed: Kwon et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.76delinsAGATATCCTAAA r.(?) p.(Ala26Argfs*20) EAHAD-CFDB unclassified g.138612999delinsAGATATCCTAAA g.139530840delinsAGATATCCTAAA - - F9_001134 - PubMed: Radic et al., 2013 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.77C>A r.(?) p.(Ala26Asp) EAHAD-CFDB unclassified g.138613000C>A g.139530841C>A - - F9_000042 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.80_83del r.(?) p.(Glu27Valfs*14) EAHAD-CFDB unclassified g.138613003_138613006del g.139530844_139530847del - - F9_000883 - PubMed: Belvini et al., 2005 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.81_82dup r.(?) p.(Cys28Tyrfs*15) EAHAD-CFDB unclassified g.138613004_138613005dup g.139530845_139530846dup - - F9_001135 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 4 1 c.82T>C r.(?) p.(Cys28Arg) EAHAD-CFDB unclassified g.138613005T>C g.139530846T>C - - F9_000043 - PubMed: Belvini et al., 2005, PubMed: Bottema et al., 1991b, PubMed: Miller et al., 2012, 1 more item - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.82T>G r.(?) p.(Cys28Gly) EAHAD-CFDB unclassified g.138613005T>G g.139530846T>G - - F9_000044 - PubMed: Liu et al., 2000 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.83del r.(?) p.(Cys28Leufs*14) EAHAD-CFDB unclassified g.138613006del g.139530847del - - F9_000047 - PubMed: Ghanem et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 9 1 c.83G>A r.(?) p.(Cys28Tyr) EAHAD-CFDB unclassified g.138613006G>A g.139530847G>A - - F9_000046 - Unpublished, PubMed: Belvini et al., 2005, PubMed: Bicocchi et al., 2006, PubMed: Onay et al., 2003 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.84T>A r.(?) p.(Cys28*) EAHAD-CFDB unclassified g.138613007T>A g.139530848T>A - - F9_000050 - PubMed: Elmahmoudi et al., 2011 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.84T>G r.(?) p.(Cys28Trp) EAHAD-CFDB unclassified g.138613007T>G g.139530848T>G - - F9_000049 - PubMed: Nielsen et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1_1i c.85_88+6del r.spl? p.? EAHAD-CFDB unclassified g.138613008_138613017del g.139530849_139530858del - - F9_000884 - Unpublished, PubMed: Saad et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.86C>T r.(?) p.(Thr29Ile) EAHAD-CFDB unclassified g.138613009C>T g.139530850C>T - - F9_000051 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.86del r.(?) p.(Thr29Lysfs*13) EAHAD-CFDB unclassified g.138613009del g.139530850del - - F9_001065 - PubMed: Yu et al., 2012 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 6 1 c.87A>G r.(=) p.(Thr29=) EAHAD-CFDB unclassified g.138613010A>G g.139530851A>G - - F9_000052 - Unpublished, PubMed: Belvini et al., 2005, PubMed: Miller et al., 2012, PubMed: Saad et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 9 1 c.88G>A r.(?) p.(Val30Ile) EAHAD-CFDB unclassified g.138613011G>A g.139530852G>A - - F9_000053 - Nawaz et al., 2008, Unpublished, Wulff et al., 2001, PubMed: Bottema et al., 1991a, 3 more items - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1 c.88G>C r.(?) p.(Val30Leu) EAHAD-CFDB unclassified g.138613011G>C g.139530852G>C - - F9_000054 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1i c.88+1G>A r.spl? p.? EAHAD-CFDB unclassified g.138613012G>A g.139530853G>A - - F9_000955 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1i c.88+1G>T r.spl? p.? EAHAD-CFDB unclassified g.138613012G>T g.139530853G>T - - F9_000956 - Unpublished, PubMed: Saad et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1i c.88+2T>C r.spl? p.? EAHAD-CFDB unclassified g.138613013T>C g.139530854T>C - - F9_000957 - Unpublished, PubMed: Montejo et al., 1999 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+2T>G r.spl? p.? EAHAD-CFDB unclassified g.138613013T>G g.139530854T>G - - F9_000958 - PubMed: Ketterling et al., 1999a - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 5 1i c.88+5G>A r.spl? p.? EAHAD-CFDB unclassified g.138613016G>A g.139530857G>A - - F9_000959 - Unpublished, PubMed: Belvini et al., 2005, PubMed: Green et al., 1991, PubMed: Meireles et al., 2017, 1 more item - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 6 1i c.88+5G>C r.spl? p.? EAHAD-CFDB unclassified g.138613016G>C g.139530857G>C - - F9_001085 - Unpublished, PubMed: Belvini et al., 2005, PubMed: Jenkins et al., 2008, PubMed: Yu et al., 2012, 1 more item - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1i c.88+5G>T r.spl? p.? EAHAD-CFDB unclassified g.138613016G>T g.139530857G>T - - F9_000961 - PubMed: David et al., 1998, PubMed: Montejo et al., 1999 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 6 1i c.88+5_88+8del r.spl? p.? EAHAD-CFDB unclassified g.138613016_138613019del g.139530857_139530860del - - F9_000945 - Wulff et al., 2001, PubMed: Belvini et al., 2005, PubMed: Radic et al., 2013 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+64C>A r.(=) p.(=) EAHAD-CFDB unclassified g.138613075C>A g.139530916C>A - - F9_001137 - PubMed: Satoh et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+75A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138613086A>G g.139530927A>G - - F9_001138 - PubMed: Satoh et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+236C>T r.(=) p.(=) EAHAD-CFDB unclassified g.138613247C>T g.139531088C>T - - F9_001139 - PubMed: Satoh et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+592A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138613603A>G g.139531444A>G - - F9_001140 - PubMed: Satoh et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+1610G>A r.(=) p.(=) EAHAD-CFDB unclassified g.138614621G>A g.139532462G>A - - F9_001141 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.88+2459T>C r.(=) p.(=) EAHAD-CFDB unclassified g.138615470T>C g.139533311T>C - - F9_001142 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-2579T>G r.(=) p.(=) EAHAD-CFDB unclassified g.138616590T>G g.139534431T>G - - F9_001143 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-2570A>G r.(=) p.(=) EAHAD-CFDB unclassified g.138616599A>G g.139534440A>G - - F9_001144 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-2529C>T r.(=) p.(=) EAHAD-CFDB unclassified g.138616640C>T g.139534481C>T - - F9_001145 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-2421A>T r.(=) p.(=) EAHAD-CFDB unclassified g.138616748A>T g.139534589A>T - - F9_001146 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-776_89-727dup r.(=) p.(=) EAHAD-CFDB unclassified g.138618393_138618442dup g.139536234_139536283dup - - F9_001147 - PubMed: Winship et al., 1984 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 3 1i c.89-6T>G r.(=) p.(=) EAHAD-CFDB unclassified g.138619163T>G g.139537004T>G - - F9_000965 - PubMed: Belvini et al., 2005, PubMed: Bottema et al., 1991b, PubMed: Kwon et al., 2008 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 2 1i c.89-1G>A r.spl? p.? EAHAD-CFDB unclassified g.138619168G>A g.139537009G>A - - F9_000962 - Unpublished, PubMed: Saad et al., 1994 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-1G>C r.spl? p.? EAHAD-CFDB unclassified g.138619168G>C g.139537009G>C - - F9_000963 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i c.89-1G>T r.spl? p.? EAHAD-CFDB unclassified g.138619168G>T g.139537009G>T - - F9_000964 - PubMed: Ghanem et al., 1993 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i_2 c.89-1_89delinsA r.spl? p.? EAHAD-CFDB unclassified g.138619168_138619169delinsA g.139537009_139537010delinsA - - F9_001148 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 1i_7i c.(88+1_89-1)_(838+1_839-1)del r.(?) p.? EAHAD-CFDB unclassified g.(138613012_138619168)_(138643015_138643682)del - - - F9_001136 - PubMed: Thompson, 1991 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+?, ?/. 2 1i_ c.(88+1_89-1)_(*1_?)del r.(?) p.? EAHAD-CFDB unclassified g.(138613012_138619168)_(138644231_?)del - - - F9_001270 - Unpublished, PubMed: Ketterling et al., 1994a - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 2 c.96del r.(?) p.(Asp33Ilefs*9) EAHAD-CFDB unclassified g.138619176del g.139537017del - - F9_000056 - PubMed: Chan et al., 1995 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 2 c.103G>T r.(?) p.(Glu35*) EAHAD-CFDB unclassified g.138619183G>T g.139537024G>T - - F9_001059 - PubMed: Radic et al., 2013 - - Unknown ? - - - - Geoffrey Kemball-Cook
+/+? 1 2 c.107A>C r.(?) p.(Asn36Thr) EAHAD-CFDB unclassified g.138619187A>C g.139537028A>C - - F9_000057 - Unpublished - - Unknown ? - - - - Geoffrey Kemball-Cook
-?/. 1 - c.108C>T r.(?) p.(Asn36=) - likely benign g.138619188C>T g.139537029C>T F9(NM_000133.3):c.108C>T (p.N36=) - F9_001277 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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