Unique variants in the F7 gene

Information The variants shown are described using the NM_000131.4 transcript reference sequence.

146 entries on 2 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.-96C>T r.(=) p.(=) EAHAD-CFDB VUS g.113760060C>T g.113105746C>T 5'UTR - F7_000001 double heterozygote - - - Germline - - MluI - - Pavithra Rallapalli
?/? 1 _1 c.-94C>G r.(=) p.(=) EAHAD-CFDB VUS g.113760062C>G g.113105748C>G 5'UTR - F7_000002 - PubMed: Carew 1998 - - Germline - - - - - Pavithra Rallapalli
?/? 2 _1 c.-61T>G r.(=) p.(=) EAHAD-CFDB VUS g.113760095T>G g.113105781T>G 5'UTR - F7_000003 double heterozygote PubMed: Arbini 1997, PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 2 1, _1 c.-60T>C r.(=) p.(=) EAHAD-CFDB VUS g.113760096T>C g.113105782T>C 5'UTR - F7_000004 double heterozygote Tidd 1999 - - Germline - - - - - Pavithra Rallapalli
+/., ?/? 4 1 c.-55C>T r.(=), r.(?), r.? p.(=), p.? EAHAD-CFDB pathogenic, VUS g.113760101C>T g.113105787C>T 5'UTR - F7_000005 compound heterozygote, double heterozygote, VKGL data sharing initiative Nederland PubMed: Carew 1998, PubMed: Giansily-Blaizot 2001 - - CLASSIFICATION record, Germline - - - - - Pavithra Rallapalli, VKGL-NL_Nijmegen
+?/., ?/? 4 1 c.-30A>C r.(?) p.(=) EAHAD-CFDB likely pathogenic, VUS g.113760126A>C g.113105812A>C 5'UTR - F7_000006 heterozygote, VKGL data sharing initiative Nederland PubMed: Millar 2000 - - CLASSIFICATION record, Germline - - - - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 1 c.1A>G r.(?) p.0? EAHAD-CFDB VUS g.113760156A>G g.113105842A>G - - F7_000007 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 1 c.3G>C r.(?) p.0? EAHAD-CFDB VUS g.113760158G>C g.113105844G>C - - F7_000008 double heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 1 c.10C>T r.(?) p.(Gln4*) EAHAD-CFDB VUS g.113760165C>T g.113105851C>T - - F7_000009 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 2 1 c.27_28del r.(?) p.(Cys10Profs*16) EAHAD-CFDB VUS g.113760182_113760183del g.113105868_113105869del 26_27delTC, 27_28delCT - F7_000010 compound heterozygote PubMed: Peyvandi 2000, PubMed: Shen 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 1 c.38T>C r.(?) p.(Leu13Pro) EAHAD-CFDB VUS g.113760193T>C g.113105879T>C - - F7_000011 - PubMed: Ozawa 1998 - - Germline - - ScrFI - - Pavithra Rallapalli
?/? 1 1 c.56T>C r.(?) p.(Leu19Pro) EAHAD-CFDB VUS g.113760211T>C g.113105897T>C - - F7_000012 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 1 c.64G>A r.(?) p.(Gly22Ser) EAHAD-CFDB VUS g.113760219G>A g.113105905G>A - - F7_000013 - PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
-?/. 1 - c.64+4C>T r.spl? p.? - likely benign g.113760223C>T g.113105909C>T - - F7_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 2 1i c.64+5G>A r.spl? p.? EAHAD-CFDB VUS g.113760224G>A g.113105910G>A - - F7_000014 double heterozygote PubMed: Giansily-Blaizot 2001, PubMed: Peyvandi 2000 - - Germline - - - - - Pavithra Rallapalli
-/. 1 - c.64+9G>A r.(=) p.(=) - benign g.113760228G>A g.113105914G>A - - F7_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.65G>A r.(?) p.(Gly22Asp) - VUS g.113761159G>A g.113106845G>A - - F7_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 2i c.131-11G>A r.spl? p.(=) EAHAD-CFDB VUS g.113764993G>A g.113110679G>A - - F7_000015 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 3 c.190T>C r.(?) p.(Phe64Leu) EAHAD-CFDB VUS g.113765063T>C g.113110749T>C - - F7_000016 - PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 3 3 c.218T>A r.(?) p.(Leu73Gln) EAHAD-CFDB VUS g.113765091T>A g.113110777T>A - - F7_000017 compound double heterozygote, double heterozygote PubMed: Giansily-Blaizot 2001, PubMed: Millar 2000 - - Germline - - AvaII - - Pavithra Rallapalli
?/? 1 3 c.226G>A r.(?) p.(Glu76Lys) EAHAD-CFDB VUS g.113765099G>A g.113110785G>A - - F7_000018 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 3 c.235G>C r.(?) p.(Glu79Gln) EAHAD-CFDB VUS g.113765108G>C g.113110794G>C - - F7_000019 heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 2 3 c.245G>T r.(?) p.(Cys82Phe) EAHAD-CFDB VUS g.113765118G>T g.113110804G>T - - F7_000020 double heterozygote - - - Germline - - - - - Pavithra Rallapalli
?/? 1 3 c.247T>C r.(?) p.(Ser83Pro) EAHAD-CFDB VUS g.113765120T>C g.113110806T>C - - F7_000021 heterozygote PubMed: Peyvandi 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 3 c.250_252del r.(?) p.(Phe84del) EAHAD-CFDB VUS g.113765123_113765125del g.113110809_113110811del 250_252del3 - F7_000022 - Tamary 1997 - - Germline - - TaqI - - Pavithra Rallapalli
?/? 1 3 c.253G>A r.(?) p.(Glu85Lys) EAHAD-CFDB VUS g.113765126G>A g.113110812G>A - - F7_000023 double heterozygote - - - Germline - - TaqI - - Pavithra Rallapalli
?/? 2 3 c.256G>T r.(?) p.(Glu86*) EAHAD-CFDB VUS g.113765129G>T g.113110815G>T - - F7_000024 double heterozygote - - - Germline - - - - - Pavithra Rallapalli
?/? 1 3 c.262C>G r.(?) p.(Arg88Gly) EAHAD-CFDB VUS g.113765135C>G g.113110821C>G - - F7_000025 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - AvaI-;AvaI- - - Pavithra Rallapalli
-/. 1 - c.285G>A r.(?) p.(Glu95=) - benign g.113765158G>A - - - F7_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 3 c.291G>C r.(?) p.(Thr97=) EAHAD-CFDB VUS g.113765164G>C g.113110850G>C - - F7_000026 - PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 3 3i c.291+1G>A r.spl p.? EAHAD-CFDB VUS g.113765165G>A g.113110851G>A - - F7_000027 compound heterozygote, double heterozygote PubMed: Giansily-Blaizot 2001, PubMed: Peyvandi 2000, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 3i c.291+5G>T r.spl? p.? EAHAD-CFDB VUS g.113765169G>T g.113110855G>T - - F7_000028 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 4i c.316+5G>A r.spl? p.? EAHAD-CFDB VUS g.113768095G>A g.113113781G>A - - F7_000029 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/. 1 - c.317-7T>G r.(=) p.(=) - VUS g.113768154T>G g.113113840T>G - - F7_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 4i c.317-1G>A r.spl p.? EAHAD-CFDB VUS g.113768160G>A g.113113846G>A - - F7_000030 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
+?/. 1 - c.317-1G>C r.spl? p.? - likely pathogenic g.113768160G>C g.113113846G>C - - F7_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 5 c.325C>T r.(?) p.(Gln109*) EAHAD-CFDB VUS g.113768169C>T g.113113855C>T - - F7_000031 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - Ava;I-;ScaI - - Pavithra Rallapalli
?/? 4 5 c.349A>G r.(?) p.(Asn117Asp) EAHAD-CFDB VUS g.113768193A>G g.113113879A>G - - F7_000032 heterozygote Chen 1993, PubMed: Leonard 1998 - - Germline - - FokI - - Pavithra Rallapalli
?/? 1 5 c.350A>T r.(?) p.(Asn117Ile) EAHAD-CFDB VUS g.113768194A>T g.113113880A>T - - F7_000033 - PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 5 c.358T>C r.(?) p.(Ser120Pro) EAHAD-CFDB VUS g.113768202T>C g.113113888T>C - - F7_000034 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 5 c.362G>T r.(?) p.(Cys121Phe) EAHAD-CFDB VUS g.113768206G>T g.113113892G>T - - F7_000035 double heterozygote PubMed: Millar 2000 - - Germline - - ScaI - - Pavithra Rallapalli
?/? 1 5 c.363C>A r.(?) p.(Cys121*) EAHAD-CFDB VUS g.113768207C>A g.113113893C>A - - F7_000036 double heterozygote PubMed: Au 2000 - - Germline - - HgiCI - - Pavithra Rallapalli
?/? 1 5 c.374T>C r.(?) p.(Leu125Pro) EAHAD-CFDB VUS g.113768218T>C g.113113904T>C - - F7_000037 double heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 2 5 c.383A>G r.(?) p.(Tyr128Cys) EAHAD-CFDB VUS g.113768227A>G g.113113913A>G - - F7_000038 compound heterozygote, heterozygote PubMed: Millar 2000, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 2 5 c.413G>A r.(?) p.(Gly138Asp) EAHAD-CFDB VUS g.113768257G>A g.113113943G>A - - F7_000039 double heterozygote - - - Germline - - - - - Pavithra Rallapalli
?/? 1 5 c.415C>T r.(?) p.(Arg139Trp) EAHAD-CFDB VUS g.113768259C>T g.113113945C>T - - F7_000040 double heterozygote PubMed: Millar 2000 - - Germline - - MspI;HaeIII - - Pavithra Rallapalli
?/? 4 5 c.416G>A r.(?) p.(Arg139Gln) EAHAD-CFDB VUS g.113768260G>A g.113113946G>A - - F7_000041 double heterozygote PubMed: Chaing 1994, PubMed: Takamiya 1993, PubMed: Takamiya 1995 - - Germline - - MspI, MspI;MspI - - Pavithra Rallapalli
+/., ?/? 7 5i c.430+1G>A r.spl, r.spl? p.? EAHAD-CFDB pathogenic, VUS g.113768275G>A g.113113961G>A - - F7_000042 double heterozygote, VKGL data sharing initiative Nederland PubMed: Arbini 1996, PubMed: Giansily-Blaizot 2001, PubMed: McVey 1998, PubMed: Millar 2000, 1 more item - - CLASSIFICATION record, Germline - - MluI - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 6 c.452G>C r.(?) p.(Cys151Ser) EAHAD-CFDB VUS g.113769995G>C g.113115681G>C - - F7_000043 - PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/., ?/? 2 6 c.460G>A r.(?) p.(Glu154Lys) EAHAD-CFDB VUS g.113770003G>A g.113115689G>A - - F7_000044 VKGL data sharing initiative Nederland PubMed: Wulff 2000 - - CLASSIFICATION record, Germline - - - - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 6 c.466G>A r.(?) p.(Gly156Ser) EAHAD-CFDB VUS g.113770009G>A g.113115695G>A - - F7_000045 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - NspBII(+) - - Pavithra Rallapalli
?/? 2 6 c.469G>A r.(?) p.(Gly157Ser) EAHAD-CFDB VUS g.113770012G>A g.113115698G>A - - F7_000046 compound heterozygote, heterozygote PubMed: Bernardi 1993, PubMed: Wulff 2000 - - Germline - - PvuII - - Pavithra Rallapalli
?/? 4 6 c.469G>T r.(?) p.(Gly157Cys) EAHAD-CFDB VUS g.113770012G>T g.113115698G>T - - F7_000047 double heterozygote, heterozygote PubMed: Bernardi 1993, PubMed: Giansily-Blaizot 2001, PubMed: Hunault 1999 - - Germline - - BbvI, BsrBI, RsaI - - Pavithra Rallapalli
?/? 1 6 c.470G>T r.(?) p.(Gly157Val) EAHAD-CFDB VUS g.113770013G>T g.113115699G>T - - F7_000048 double heterozygote PubMed: Millar 2000 - - Germline - - MspI;HaeIII - - Pavithra Rallapalli
+/., ?/? 36 6 c.479A>G r.(?) p.(Gln160Arg) EAHAD-CFDB pathogenic, VUS g.113770022A>G g.113115708A>G - - F7_000049 double heterozygote, heterozygote, VKGL data sharing initiative Nederland Kavlie 1993, Kavlie 1997, PubMed: Giansily-Blaizot 2001, PubMed: Hunault 1999, PubMed: Kavlie 1998, 5 more items - - CLASSIFICATION record, Germline - - AluI-, Ava;I-;ScaI, BsrBI, MspI;PvuII;ScaI, ScaI - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 6 c.485G>A r.(?) p.(Cys162Tyr) EAHAD-CFDB VUS g.113770028G>A g.113115714G>A - - F7_000050 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 3 6 c.508C>T r.(?) p.(Arg170Cys) EAHAD-CFDB VUS g.113770051C>T g.113115737C>T - - F7_000051 heterozygote PubMed: Suto 2000 - - Germline - - Eco47III - - Pavithra Rallapalli
-/. 1 - c.525C>T r.(?) p.(His175=) - benign g.113770068C>T g.113115754C>T F7(NM_000131.4):c.525C>T (p.H175=) - F7_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/? 1 6i c.572-12T>A r.(?) p.(=) EAHAD-CFDB VUS g.113771068T>A g.113116754T>A - - F7_000052 - PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 6i c.572-2A>G r.spl p.? EAHAD-CFDB VUS g.113771078A>G g.113116764A>G - - F7_000053 heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 3 7 c.580C>A r.(?) p.(Pro194Thr) EAHAD-CFDB VUS g.113771088C>A g.113116774C>A - - F7_000054 double heterozygote, heterozygote PubMed: Alshinawi 1998 - - Germline - - NspI - - Pavithra Rallapalli
+/., ?/? 7 7 c.583T>C r.(?) p.(Cys195Arg) EAHAD-CFDB pathogenic, VUS g.113771091T>C g.113116777T>C - - F7_000055 compound heterozygote, double heterozygote, VKGL data sharing initiative Nederland PubMed: Giansily-Blaizot 2001, PubMed: Millar 2000, PubMed: Peyvandi 2000, PubMed: Wulff 2000 - - CLASSIFICATION record, Germline - - MspI;PvuII, ScaI - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 7 c.589A>G r.(?) p.(Lys197Glu) EAHAD-CFDB VUS g.113771097A>G g.113116783A>G - - F7_000056 double heterozygote PubMed: Takamiya 1993 - - Germline - - - - - Pavithra Rallapalli
?/? 2 7 c.634C>T r.(?) p.(Arg212*) EAHAD-CFDB VUS g.113771142C>T g.113116828C>T - - F7_000057 compound heterozygote, heterozygote Herrmann 1997, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 5 7 c.635G>A r.(?) p.(Arg212Gln) EAHAD-CFDB VUS g.113771143G>A g.113116829G>A - - F7_000058 compound double heterozygote, double heterozygote, heterozygote PubMed: Carew 1998, PubMed: Chaing 1994, PubMed: Giansily-Blaizot 2001, PubMed: Peyvandi 2000, 1 more item - - Germline - - EcoRI, MspI;MspI - - Pavithra Rallapalli
?/? 1 7 c.647del r.(?) p.(Gly216Alafs*17) EAHAD-CFDB VUS g.113771155del g.113116841del 647delG - F7_000059 double heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 7 c.647G>A r.(?) p.(Gly216Asp) EAHAD-CFDB VUS g.113771155G>A g.113116841G>A - - F7_000060 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 7 c.681G>T r.(?) p.(Gln227His) EAHAD-CFDB VUS g.113771189G>T g.113116875G>T - - F7_000061 compound heterozygote PubMed: Shen 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 2 7i c.681+1G>T r.spl p.? EAHAD-CFDB VUS g.113771190G>T g.113116876G>T - - F7_000062 heterozygote PubMed: Millar 2000, PubMed: Peyvandi 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 8 c.713G>A r.(?) p.(Cys238Tyr) EAHAD-CFDB VUS g.113771818G>A g.113117504G>A - - F7_000063 heterozygote PubMed: Marchetti 1993 - - Germline - - - - - Pavithra Rallapalli
?/? 2 8 c.715G>A r.(?) p.(Gly239Arg) EAHAD-CFDB VUS g.113771820G>A g.113117506G>A - - F7_000064 compound heterozygote, double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 8 c.718G>A r.(?) p.(Gly240Arg) EAHAD-CFDB VUS g.113771823G>A g.113117509G>A - - F7_000065 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - - - - Pavithra Rallapalli
?/? 1 8 c.722C>A r.(?) p.(Thr241Asn) EAHAD-CFDB VUS g.113771827C>A g.113117513C>A - - F7_000066 heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 8 c.751G>A r.(?) p.(Ala251Thr) EAHAD-CFDB VUS g.113771856G>A g.113117542G>A - - F7_000067 - PubMed: Giansily-Blaizot 2001 - - Germline - - SacII- - - Pavithra Rallapalli
?/? 2 8 c.761G>A r.(?) p.(Cys254Tyr) EAHAD-CFDB VUS g.113771866G>A g.113117552G>A - - F7_000068 compound heterozygote, double heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
+/., ?/? 2 8 c.791T>C r.(?) p.(Leu264Pro) EAHAD-CFDB pathogenic, VUS g.113771896T>C g.113117582T>C - - F7_000069 VKGL data sharing initiative Nederland Kavlie 1997 - - CLASSIFICATION record, Germline - - - - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 8 c.796G>A r.(?) p.(Ala266Thr) EAHAD-CFDB VUS g.113771901G>A g.113117587G>A - - F7_000070 compound heterozygote PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
+/. 1 - c.805+1G>A r.spl? p.? - pathogenic g.113771911G>A g.113117597G>A - - F7_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 4 8i c.805+3_805+6del r.spl p.? EAHAD-CFDB VUS g.113771913_113771916del g.113117599_113117602del - - F7_000071 heterozygote PubMed: Millar 2000, PubMed: Pinotti 1998, PubMed: Wulff 2000 - - Germline - - RsaI - - Pavithra Rallapalli
?/? 8 8i c.805+5G>A r.spl? p.? EAHAD-CFDB VUS g.113771915G>A g.113117601G>A - - F7_000072 double heterozygote, heterozygote PubMed: Bernardi 1993, PubMed: Millar 2000, PubMed: Pinotti 1998 - - Germline - - RsaI - - Pavithra Rallapalli
-/., ?/? 3 8i c.805+7A>G r.(=), r.spl? p.(=) EAHAD-CFDB benign, VUS g.113771917A>G g.113117603A>G - - F7_000073 heterozygote, VKGL data sharing initiative Nederland PubMed: Bernardi 1993, PubMed: Wulff 2000 - - CLASSIFICATION record, Germline - - RsaI - - Pavithra Rallapalli, VKGL-NL_Nijmegen
-?/. 1 - c.805+7_805+43del r.(=) p.(=) - likely benign g.113771917_113771953del g.113117603_113117639del F7(NM_000131.4):c.795_805+26del - F7_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.806-20G>A r.(=) p.(=) - benign g.113772707G>A g.113118393G>A F7(NM_000131.4):c.806-20G>A - F7_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/? 1 9 c.814G>A r.(?) p.(Asp272Asn) EAHAD-CFDB VUS g.113772735G>A g.113118421G>A - - F7_000074 double heterozygote - - - Germline - - - - - Pavithra Rallapalli
?/? 3 9 c.817_831del r.(?) p.(Leu273_Asp277del) EAHAD-CFDB VUS g.113772738_113772752del g.113118424_113118438del 816_831del15 - F7_000075 compound heterozygote, double heterozygote PubMed: Giansily-Blaizot 2001, {PMID:Peyvandi 199, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 5 9 c.847C>T r.(?) p.(Arg283Trp) EAHAD-CFDB VUS g.113772768C>T g.113118454C>T - - F7_000076 heterozygote PubMed: Bernardi 1996 - - Germline - - MspI - - Pavithra Rallapalli
?/? 5 9 c.849_865del r.(?) p.(Arg284Hisfs*27) EAHAD-CFDB VUS g.113772770_113772786del g.113118456_113118472del 849_865del17 - F7_000077 compound heterozygote, double heterozygote, heterozygote PubMed: Bernardi 1994, PubMed: Peyvandi 2000 - - Germline - - MspI, MspI;AvaII - - Pavithra Rallapalli
-?/. 1 - c.851G>A r.(?) p.(Arg284Gln) - likely benign g.113772772G>A g.113118458G>A F7(NM_000131.4):c.851G>A (p.(Arg284Gln)) - F7_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 2 9 c.904G>A r.(?) p.(Asp302Asn) EAHAD-CFDB VUS g.113772825G>A g.113118511G>A - - F7_000078 - PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 2 9 c.904G>C r.(?) p.(Asp302His) EAHAD-CFDB VUS g.113772825G>C g.113118511G>C - - F7_000126 compound heterozygote, double heterozygote PubMed: Millar 2000, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/? 1 9 c.910G>A r.(?) p.(Ala304Thr) EAHAD-CFDB VUS g.113772831G>A g.113118517G>A - - F7_000079 heterozygote PubMed: Millar 2000 - - Germline - - - - - Pavithra Rallapalli
+/., ?/? 35 9 c.911C>T r.(?) p.(Ala304Val) EAHAD-CFDB pathogenic, VUS g.113772832C>T g.113118518C>T - - F7_000080 compound heterozygote, double heterozygote, heterozygote, VKGL data sharing initiative Nederland Herrmann 1997, PubMed: Alshinawi 1998, PubMed: Giansily-Blaizot 2001, PubMed: Marchetti 1992, 3 more items - - CLASSIFICATION record, Germline - - MspI;PvuII, NspI - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 5 9 c.919C>T r.(?) p.(Arg307Cys) EAHAD-CFDB VUS g.113772840C>T g.113118526C>T - - F7_000081 compound heterozygote PubMed: Millar 2000, PubMed: Peyvandi 2000, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
+/., ?/? 2 9 c.920G>A r.(?) p.(Arg307His) ACMG, EAHAD-CFDB pathogenic, VUS g.113772841G>A g.113118527G>A - - F7_000082 - PubMed: Ohiwa 1994, PubMed: Trujillano 2017 - - Germline - - PCR+ApaI - - Daniel Trujillano, Pavithra Rallapalli
+/., ?/? 6 9 c.934G>A r.(?) p.(Val312Met) EAHAD-CFDB pathogenic, VUS g.113772855G>A g.113118541G>A - - F7_000083 compound heterozygote, double heterozygote, VKGL data sharing initiative Nederland PubMed: Millar 2000, PubMed: Wulff 2000 - - CLASSIFICATION record, Germline - - MluI - - Pavithra Rallapalli, VKGL-NL_Nijmegen
?/? 1 9 c.961del r.(?) p.(Leu321Serfs*45) EAHAD-CFDB VUS g.113772882del g.113118568del - - F7_000084 double heterozygote PubMed: Millar 1992 - - Germline - - - - - Pavithra Rallapalli
?/? 2 9 c.973G>A r.(?) p.(Glu325Lys) EAHAD-CFDB VUS g.113772894G>A g.113118580G>A - - F7_000085 heterozygote PubMed: Bernardi 1996, PubMed: Wulff 2000 - - Germline - - - - - Pavithra Rallapalli
?/. 1 - c.976C>T r.(?) p.(Arg326Trp) - VUS g.113772897C>T g.113118583C>T - - F7_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/? 1 9 c.995C>T r.(?) p.(Thr332Met) EAHAD-CFDB VUS g.113772916C>T g.113118602C>T - - F7_000086 double heterozygote PubMed: Millar 2000 - - Germline - - ScaI - - Pavithra Rallapalli
?/? 1 9 c.1006del r.(?) p.(Val336Cysfs*30) EAHAD-CFDB VUS g.113772927del g.113118613del 1006delG - F7_000087 double heterozygote PubMed: Giansily-Blaizot 2001 - - Germline - - NspBII(+) - - Pavithra Rallapalli
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This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.

This version of the database is under construction. Please refer to the EAHAD Coagulation Factor Variant Databases for current listings.