Factor VII Variant Database

c.814G>A

p.Asp272Asn (Legacy AA No. 212)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAC > AAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

8

Allele Frequency (MAF):

4.42E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
623	UK		UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
414	29			Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission

c.816_831del

p.Leu273_Asp277del (Legacy AA No. 213)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

del CTCAGCGAGCACGAC

Variant Effect:

Inframe

Location:

Exon (9)

No of bases:

15

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Inframe) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
245		4			Heterozygous	7	unknown		Wulff et al 2000

c.816_831ins

p.Leu277_Asp278ins (Legacy AA No. 217)

Variant Type:

Insertion

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Inframe

Location:

Exon (9)

No of bases:

15

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Insertion | Inframe) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
398	<1			10	Homozygous	-	severe		Peyvandi et al 1999

c.817_831dup

(p.Asp272_Leu273insLeuSerGluHisAsp) p.Leu273_Asp277dup (Legacy AA No. 212)

Variant Type:

Duplication

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Frameshift

Location:

Exon (9)

No of bases:

0

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
731	<1			<10	Homozygous	-	Moderate		Peyvandi et al 2001

c.839A>C

p.Glu280Ala (Legacy AA No. 220)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > GAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
452		2	2		Heterozygous	1	Mild		Liu et al 2015

c.841C>T

p.Gln281* (Legacy AA No. 221)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TAG > CAG

Variant Effect:

Nonsense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
756	<1,5			<1	Heterozygous	1	Severe		Takamiya et al 2001

c.847C>T

p.Arg283Trp (Legacy AA No. 223)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > TGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

10

Allele Frequency (MAF):

4.3E-5

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Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
99		44	49	Heterozygous	3	asymptomatic	Bernardi et al 1996
96		78	81	Heterozygous	3	unknown	Bernardi et al 1996
97		62	58	Heterozygous	3	unknown	Bernardi et al 1996
98		60	50	Heterozygous	3	unknown	Bernardi et al 1996
23		60	58	Heterozygous	3	unknown	Bernardi et al 1996
630	UK		UK	Heterozygous	-	Asymptomatic	Herrmann et al 2009

c.849_865del17

p.Arg284Hisfs*27 (Legacy AA No. 224)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delGCGGGTGGCGCAGGTCA

Variant Effect:

Frameshift

Location:

Exon (9)

No of bases:

17

No. of patients reported:

5

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
100		67	64	Heterozygous	3	unknown	Bernardi et al 1994b
101		7	25	Heterozygous	4	unknown	Bernardi et al 1994b
254		44	40	Heterozygous	3	unknown	Bernardi et al 1994b
25		18	38	Heterozygous	4	unknown	Bernardi et al 1994b
313		<1	<1	Heterozygous	1	severe	Peyvandi et al 2000b

c.851G>A

p.Arg284Gln (Legacy AA No. 224)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CAG > CGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

0.0005478

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
417	6			7	Heterozygous	1	Asymptomatic		Borensztajn et al 2005

c.859C>T

p.Gln287* (Legacy AA No. 227)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TAG > CAG

Variant Effect:

Nonsense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
684	<1			UK	Homozygous	-	Severe		Jayandharan et al 2007

c.882C>G

p.Tyr294* (Legacy AA No. 234)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TAG > TAC

Variant Effect:

Nonsense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
766	13			11	Heterozygous	1	Asymptomatic		Suzuki et al 2013

c.895A>C

p.Thr299Pro (Legacy AA No. 239)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCC > ACC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
419	25			95	Homozygous	-	Asymptomatic		Borensztajn et al 2005

c.904G>A

p.Asp302Asn (Legacy AA No. 242)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAC > AAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

2.53E-5

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Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
239		1		9	Homozygous	2	severe		Millar et al 2000
321		<1		9	Homozygous	-	severe		Unpublished Submission
502	2			UK	Heterozygous	1	Severe		Herrmann et al 2000

c.904G>C

p.Asp302His (Legacy AA No. 242)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAC > CAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

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Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
574	7			UK	Heterozygous	1	Severe		Herrmann et al 2009
246		4		1	Heterozygous	3	mild		Millar et al 2000
86		02-Apr			Heterozygous	7	unknown		Wulff et al 2000

c.910G>A

p.Ala304Thr (Legacy AA No. 244)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > ACG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

18

Allele Frequency (MAF):

8.4E-6

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Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
635	UK		UK	Heterozygous	-	Asymptomatic	Herrmann et al 2009
326		3	13	Heterozygous	2	asymptomatic	Millar et al 2000

c.911C>T

p.Ala304Val (Legacy AA No. 244)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > GTG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

38

Allele Frequency (MAF):

0.0001515

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
50		2		4	Homozygous	2	asymptomatic		Millar et al 2000
51		9		10	Homozygous	2	asymptomatic		Millar et al 2000
37			4		Homozygous	5	asymptomatic		Tamary et al 1996
34			7	7	Homozygous	5	asymptomatic		Tamary et al 1996
31			5	9	Homozygous	5	asymptomatic		Tamary et al 1996
28			7		Homozygous	5	asymptomatic		Tamary et al 1996
38			5		Homozygous	5	asymptomatic		Tamary et al 1996
35			3	5	Homozygous	5	asymptomatic		Tamary et al 1996
32			4		Homozygous	5	asymptomatic		Tamary et al 1996
29			9.4		Homozygous	5	asymptomatic		Tamary et al 1996
39			5.5		Homozygous	5	asymptomatic		Tamary et al 1996
36			14		Homozygous	5	asymptomatic		Tamary et al 1996
33			6		Homozygous	5	asymptomatic		Tamary et al 1996
30			9		Homozygous	5	asymptomatic		Tamary et al 1996
27			3.5		Homozygous	5	asymptomatic		Tamary et al 1996
102		3		4	Homozygous	6	unknown		Wulff et al 2000
345			38		Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
392			45	57	Heterozygous	2	unknown	FVII MALTA II	Alshinawi et al 1998
90			12	14	Heterozygous	3	asymptomatic	FVII MALTA I & II	Alshinawi et al 1998
344		3		10	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
456	5			7	Heterozygous	1	Asymptomatic		Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
266	100 (bovine)		40	70	Heterozygous	2	moderate		Marchetti et al 1992
40			5		Heterozygous	6	asymptomatic		Tamary et al 1996
47			28		Heterozygous	10	asymptomatic		Tamary et al 1996
44			33		Heterozygous	5	asymptomatic		Tamary et al 1996
41			19		Heterozygous	10	asymptomatic		Tamary et al 1996
48			32		Heterozygous	5	asymptomatic		Tamary et al 1996
45			31		Heterozygous	5	asymptomatic		Tamary et al 1996
42			46		Heterozygous	10	asymptomatic		Tamary et al 1996
49			25		Heterozygous	5	asymptomatic		Tamary et al 1996
46			39		Heterozygous	14	asymptomatic		Tamary et al 1996
43			33		Heterozygous	5	asymptomatic		Tamary et al 1996
414	29				Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission

c.919C>T

p.Arg307Cys (Legacy AA No. 247)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGC > TGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

6

Allele Frequency (MAF):

1.68E-5

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
240				Homozygous	2	unknown	Millar et al 2000
510	<10		UK	Heterozygous	1	Asymptomatic	Herrmann et al 2000
327		<1	43	Heterozygous	1	mild	Peyvandi et al 2000b
259		<1	54	Heterozygous	1	severe	Peyvandi et al 2000b
261		<1	43	Heterozygous	1	mild	Peyvandi et al 2000b
217		10		Heterozygous	7	unknown	Wulff et al 2000

c.920G>A

p.Arg307His (Legacy AA No. 247)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGC > CAC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

2.52E-5

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
52		24	28	26	Homozygous	-	asymptomatic	FVII MIE	Ohiwa et al 1994
584	30_<50			UK	Heterozygous	-	Moderate		Herrmann et al 2009

c.932C>T

p.Pro311Leu (Legacy AA No. 251)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CTC > CCC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

8.4E-6

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
480		49	12	42	Heterozygous	1	Asymptomatic		Mourey et al 2014

c.934G>A

p.Val312Met (Legacy AA No. 252)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTG > ATG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

24

Allele Frequency (MAF):

4.2E-5

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Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
498	11		UK	Heterozygous	1	Asymptomatic	Herrmann et al 2000
246		4	1	Heterozygous	3	mild	Millar et al 2000
7		3		Heterozygous	3	asymptomatic	Millar et al 2000
328	9		31	Heterozygous	7	mild	Wulff et al 2000
214		11		Heterozygous	8	asymptomatic	Wulff et al 2000
218		4		Heterozygous	7	mild	Wulff et al 2000

c.940C>G

p.Leu314Val (Legacy AA No. 254)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTC > CTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
779			28	UK	Heterozygous	-	Asymptomatic		Kwon et al 2011

c.959C>T

p.Pro320Leu (Legacy AA No. 260)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CTC > CCC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

8.4E-6

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
764	12.5	14.5	14.5		Heterozygous	1	Unknown		Kogiso et al 2011

c.961C>T

p.Leu321Phe (Legacy AA No. 261)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > CTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

8.4E-6

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
476		2		1	Homozygous	-	Moderate		Borhany et al 2013

c.961delC

p.Leu321Serfs*45 (Legacy AA No. 261)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delC

Variant Effect:

Frameshift

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
53	1.7			1.2	Heterozygous	1	severe		Millar et al 1992

c.965G>C

p.Cys322Ser (Legacy AA No. 262)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TCC > TGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
473		37		48	Heterozygous	-	Asymptomatic		Borhany et al 2013

c.968T>G

p.Leu323Arg (Legacy AA No. 263)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > CTG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
698	<1			1.3	Heterozygous	-	Severe		Mota et al 2009

c.973G>A

p.Glu325Lys (Legacy AA No. 265)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAA > AAA

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

4

Allele Frequency (MAF):

3.36E-5

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Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
666	UK			UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009
54		44			Heterozygous	6	unknown		Wulff et al 2000

c.985T>C

p.Ser329Pro (Legacy AA No. 269)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCT > TCT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
441	2_<6			not in the abstract	Heterozygous	1	Asymptomatic		Jin et al 2012

c.995C>T

p.Thr332Met (Legacy AA No. 272)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACG > ATG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

0.0001347

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Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
186		7		43	Heterozygous	3	unknown		Millar et al 2000

c.1006delG

p.Val336Cysfs*30 (Legacy AA No. 276)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delG

Variant Effect:

Frameshift

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
357	2			15	Heterozygous	5	mild		Giansily-Blaizot et al 2001

c.1009C>T

p.Arg337Cys (Legacy AA No. 277)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGC > TGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

6

Allele Frequency (MAF):

6.74E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
263		<1		<1	Homozygous	-	severe		Peyvandi et al 2000b
437	6			7	Homozygous	-	Asymptomatic		Wang et al 2011
347		2			Heterozygous	5	mild		Giansily-Blaizot et al 2001

c.1010G>A

p.Arg337His (Legacy AA No. 277)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CAC > CGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

7

Allele Frequency (MAF):

1.69E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
461		39	<5	28	Heterozygous	1	Asymptomatic		Mourey et al 2014

c.1021G>T

p.Val341Phe (Legacy AA No. 281)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTC > TTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

15

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
241	17				Homozygous	1	unknown		Herrmann et al 1997
488	4			30	Heterozygous	1	Mild		Herrmann et al 2000
168		<1		10	Heterozygous	8	unknown		Wulff et al 2000

c.1026C>G

p.Ser342Arg (Legacy AA No. 282)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

AGC > AGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
264		<1		6	Heterozygous	-	severe		Peyvandi et al 2000b

c.1027G>A

p.Gly343Ser (Legacy AA No. 283)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

10

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
525	7			UK	Homozygous	-	Severe	Herrmann et al 2009
411			52	73	Heterozygous	3	asymptomatic	Unpublished Submission

c.1030T>C

p.Trp344Arg (Legacy AA No. 284)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > TGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
708	2.8			65	Heterozygous	-	Mild		Mota et al 2009

c.1033G>A

p.Gly345Ser (Legacy AA No. 285)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGC > AGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
165					Heterozygous	1	unknown		Kavlie et al 1997

c.1048C>T

p.Arg350Cys (Legacy AA No. 290)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > CGT

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

1.7E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
675	UK			UK	Heterozygous	-	Asymptomatic		Herrmann et al 2009

c.1048delC

p.Arg350Valfs*16 (Legacy AA No. 290)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delC

Variant Effect:

Frameshift

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 9

Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
53	1.7			1.2	Heterozygous	1	severe		Millar et al 1992

c.1061C>T

p.Ala354Val (Legacy AA No. 294)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCC > GTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

99

Allele Frequency (MAF):

0.0007488

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
110		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
105		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
117		4	4	12	Homozygous	2	moderate		Arbini et al 1994
59		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
114		3	4	17	Homozygous	2	moderate		Arbini et al 1994
108		<2	<2	4	Homozygous	2	moderate		Arbini et al 1994
103		<2	<2	3	Homozygous	2	severe		Arbini et al 1994
118		5	11	47	Homozygous	1	moderate		Arbini et al 1994
60		<2	<2	3	Homozygous	2	moderate		Arbini et al 1994
104		<2	<2	1	Homozygous	2	moderate		Arbini et al 1994
58		<2	<2	2	Homozygous	2	moderate		Arbini et al 1994
57		6		61	Homozygous	6	unknown		Wulff et al 2000
87		<1		<1	Homozygous	7	unknown		Wulff et al 2000
230		73	75	82	Heterozygous	1	asymptomatic		Arbini et al 1994
171		45	30	50	Heterozygous	1	asymptomatic		Arbini et al 1994
111		40	44	45	Heterozygous	2	asymptomatic		Arbini et al 1994
115		40	36	42	Heterozygous	2	asymptomatic		Arbini et al 1994
112		52	44	43	Heterozygous	2	mild		Arbini et al 1994
116		60	62	56	Heterozygous	2	asymptomatic		Arbini et al 1994
113		38	27	34	Heterozygous	2	asymptomatic		Arbini et al 1994
101		7		25	Heterozygous	4	unknown		Bernardi et al 1994b
25		18		38	Heterozygous	4	unknown		Bernardi et al 1994b
381		59		98	Heterozygous	3	unknown		Bernardi et al 1994b
379		<1		<1	Heterozygous	2	severe		Carew et al 1998
155		4		48	Heterozygous	8	mild		Giansily-Blaizot et al 2001
225		<1			Heterozygous	7	severe		Giansily-Blaizot et al 2001
153		2			Heterozygous	7	mild	Female	Giansily-Blaizot et al 2001
109	28				Heterozygous	1	unknown		Herrmann et al 1997
465	41			84	Heterozygous	1		thrombotic episode	Marty et al 2008
294		2		7	Heterozygous	3	severe		Millar et al 2000
328	9			31	Heterozygous	7	mild		Wulff et al 2000
245		4			Heterozygous	7	unknown		Wulff et al 2000
213		08-Dec			Heterozygous	8	unknown		Wulff et al 2000
168		<1		10	Heterozygous	8	unknown		Wulff et al 2000
292		15			Heterozygous	8	severe		Wulff et al 2000
169		1		1	Heterozygous	8	mild		Wulff et al 2000
10		14-40			Heterozygous	8	asymptomatic		Wulff et al 2000

c.1069C>T

p.Leu357Phe (Legacy AA No. 297)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > CTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
472		2		85	Homozygous	-	Moderate		Borhany et al 2013

c.1072A>G

p.Met358Val (Legacy AA No. 298)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ATG > GTG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
119		44	92	Heterozygous	3	asymptomatic	Bernardi et al 1996
61		50	87	Heterozygous	3	asymptomatic	Bernardi et al 1996

c.1074G>A

p.Met358Ile (Legacy AA No. 298)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ATG > ATA

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

22

Allele Frequency (MAF):

6.81E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
331		6	85	Homozygous	3	mild		Bernardi et al 1994a
418	7		136	Homozygous	-	Asymptomatic		Borensztajn et al 2005
384	5		76	Homozygous	5	mild		Giansily-Blaizot et al 2001
330		46		Heterozygous	-	unknown		Bernardi et al 1994a
231		36		Heterozygous	-	unknown		Bernardi et al 1994a
123		46		Heterozygous	-	unknown		Bernardi et al 1994a
124		51		Heterozygous	-	unknown		Bernardi et al 1994a
125		61		Heterozygous	-	unknown		Bernardi et al 1994a
122		60		Heterozygous	-	unknown		Bernardi et al 1994a
258	1		9	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
367	3		37	Heterozygous	5	asymptomatic	other mutation unknown	Giansily-Blaizot et al 2001
277	5			Heterozygous	5	mild		Giansily-Blaizot et al 2001
120		25		Heterozygous	2	unknown		Millar et al 2000
62		50		Heterozygous	2	mild		Millar et al 2000
121		41		Heterozygous	6	asymptomatic		Wulff et al 2000

c.1079T>C

p.Leu360Pro (Legacy AA No. 300)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CTC > CCC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

3

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
712	<1			50	Heterozygous	1	Mild		Tamary et al 2000

c.1087C>A

p.Pro363Thr (Legacy AA No. 303)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCC > ACC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
265		<1	135	Homozygous	-	severe	Peyvandi et al 2000b
336		<1	125.7	Homozygous	-	severe	Shen et al 2001

c.1088C>G

p.Pro363Arg (Legacy AA No. 303)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCC > CGC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
506	15		60	Heterozygous	1	Asymptomatic	Herrmann et al 2000
238	15		60	Heterozygous	6	asymptomatic	Wulff et al 2000

c.1090C>T

p.Arg364Trp (Legacy AA No. 304)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > TGG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

5

Allele Frequency (MAF):

1.7E-5

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%			FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
Case ID	TF-Unknown	TF-Human	TF-Rabbit	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
63		2			Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
397	60 (bovine)	16	<5	87	Homozygous	-	asymptomatic	FVII NAGOYA	Matsushita et al 1994
430	UK			UK	Heterozygous	1	Unknown		Ding et al 2003

c.1091G>A

p.Arg364Gln (Legacy AA No. 304)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGG > CAG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

59

Allele Frequency (MAF):

0.000519

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
68		16		82	Homozygous	3	asymptomatic		Bernardi et al 1994a
70		18		78	Homozygous	-	unknown		Bernardi et al 1994a
65		31		113	Homozygous	3	asymptomatic		Bernardi et al 1996
133		5			Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
130		2		72	Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
391	100 (bovine)		9	100	Homozygous	-	mild	FVII PADUA	James et al 1993a
390		30	<1	104	Homozygous	-	asymptomatic		O'Brien et al 1991
137		24		156	Homozygous	-	asymptomatic		Peyvandi et al 2000b
138		17		106	Homozygous	-	asymptomatic		Peyvandi et al 2000b
135		37		240	Homozygous	-	asymptomatic		Peyvandi et al 2000b
139		22		130	Homozygous	-	asymptomatic		Peyvandi et al 2000b
136		27		224	Homozygous	-	mild		Peyvandi et al 2000b
365		14		120	Homozygous	-	asymptomatic	FVII RICHMOND; PE & DVT	Sabharwal et al 1992
393	124 bovine	21	14		Homozygous	-	asymptomatic	FVII DETROIT; DVT	Shurafa et al 1993
64			<1	100	Homozygous	-	asymptomatic		Takamiya et al 1993
67		52		83	Heterozygous	-	unknown		Bernardi et al 1994a
127		54		73	Heterozygous	3	unknown		Bernardi et al 1994a
74		45		84	Heterozygous	-	unknown		Bernardi et al 1994a
71		54		85	Heterozygous	-	unknown		Bernardi et al 1994a
128		33		70	Heterozygous	3	asymptomatic		Bernardi et al 1994a
75		34		83	Heterozygous	-	unknown		Bernardi et al 1994a
72		52		97	Heterozygous	-	unknown		Bernardi et al 1994a
69		46		75	Heterozygous	3	unknown		Bernardi et al 1994a
66		72		124	Heterozygous	-	unknown		Bernardi et al 1994a
129		47		82	Heterozygous	-	unknown		Bernardi et al 1994a
126		44		88	Heterozygous	3	unknown		Bernardi et al 1994a
73		61		90	Heterozygous	-	unknown		Bernardi et al 1994a
134		3		23	Heterozygous	5	mild		Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
132		5		55	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
400		16	6.7	67	Heterozygous	-	asymptomatic	FVII LITTLE ROCK - possibly a compound heterozygote	James et al 1993b
269		20	20	50	Heterozygous	-	mild	FVII VERONA	James et al 1993c
270		4	<1	60	Heterozygous	1	asymptomatic	FVII KANSAS	Kuppuswamy et al 1993
268	100 (bovine)		51	117	Heterozygous	-	unknown		Marchetti et al 1992
140	100 (bovine)		75	108	Heterozygous	1	unknown		Marchetti et al 1992
266	100 (bovine)		40	70	Heterozygous	2	moderate		Marchetti et al 1992
267	100 (bovine)		58	74	Heterozygous	1	unknown		Marchetti et al 1992
420		38	38	70	Heterozygous	-	Unknown		Rodrigues et al 2003
40			5		Heterozygous	6	asymptomatic		Tamary et al 1996

c.1096A>G

p.Met366Val (Legacy AA No. 306)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTG > ATG

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Patient Information : Show

Case ID	FVII:C%	FVII:Ag(%)	Genotype	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
432	UK			UK	Heterozygous	1	Unknown		Tu et al 2006

c.1109G>T

p.Cys370Phe (Legacy AA No. 310)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGC > TTC

Variant Effect:

Missense

Location:

Exon (9)

No of bases:

1

No. of patients reported:

38

Allele Frequency (MAF):

4.25E-5

Molecular Graphics and Amino-acid Alignments

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Factor VII Gene (F7)

Variant Database

Data Export Options:

UNIQUE (Without Patient Data) : EXCEL/CSV TABULAR MULTIPLE (With Patient Data) : EXCEL/CSV TABULAR

Search Results: 94 unique variants retrieved (displaying 50 entries per page). Scroll down to navigate to the next page(s).

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

UNIQUE (Without Patient Data) :

EXCEL/CSV

TABULAR

MULTIPLE (With Patient Data) :

EXCEL/CSV

TABULAR