Factor VII Variant Database

c.641T>G

p.Val214Gly (Legacy AA No. 154)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > GTG

Variant Effect:

Missense

Location:

Exon (7)

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
732	1			42	Heterozygous	1	Mild		Toso et al 2003

c.647delG

p.Gly216Alafs*17 (Legacy AA No. 156)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

delG

Variant Effect:

Frameshift

Location:

Exon (7)

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 7

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
236	1			1	Heterozygous	3	asymptomatic		Millar et al 2000

c.647G>A

p.Gly216Asp (Legacy AA No. 156)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGC > GAC

Variant Effect:

Missense

Location:

Exon (7)

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
489	15		UK	Heterozygous	2	Moderate	Herrmann et al 2000
292		15		Heterozygous	8	severe	Wulff et al 2000

c.681G>T

p.Gln227His (Legacy AA No. 167)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CAGgt > CATgt

Variant Effect:

Missense

Location:

Exon (7)

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
282		<1		<1	Heterozygous	2	severe		Shen et al 2001

c.713G>A

p.Cys238Tyr (Legacy AA No. 178)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > TAT

Variant Effect:

Missense

Location:

Exon (8)

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
19	37			30	Heterozygous	2	asymptomatic		Marchetti et al 1993

c.715G>C

p.Gly239Arg (Legacy AA No. 179)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > CGG

Variant Effect:

Missense

Location:

Exon (8)

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
387	2		62	Heterozygous	6	mild	Giansily-Blaizot et al 2001
344		3	10	Heterozygous	5	asymptomatic	Giansily-Blaizot et al 2001

c.718G>A

p.Gly240Arg (Legacy AA No. 180)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GGG > AGG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

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
729	<1		UK	Homozygous	-	Severe	Landau et al 2009
134		3	23	Heterozygous	5	mild	Giansily-Blaizot et al 2001

c.722C>A

p.Thr241Asn (Legacy AA No. 181)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

ACC > AAC

Variant Effect:

Missense

Location:

Exon (8)

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
317	1		1	Heterozygous	2	mild	Millar et al 2000
432	UK		UK	Heterozygous	1	Unknown	Tu et al 2006

c.749C>T

p.Ser250Phe (Legacy AA No. 190)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TTC > TCC

Variant Effect:

Missense

Location:

Exon (8)

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
435		4		130	Heterozygous	1	Mild		Jiang et al 2011

c.751G>C

p.Ala251Pro (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CCG > GCG

Variant Effect:

Missense

Location:

Exon (8)

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
695	<1			46	Heterozygous	1	Severe		Mota et al 2009

c.751G>A

p.Ala251Thr (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > ACG

Variant Effect:

Missense

Location:

Exon (8)

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(%)	Additional Variants in Case	Reported Clinical Severity	Comments	Reference
TF-Unknown	TF-Human	TF-Rabbit
354	<5		25	Homozygous	4	asymptomatic	Giansily-Blaizot et al 2001
417	6		7	Heterozygous	1	Asymptomatic	Borensztajn et al 2005

c.752C>A

p.Ala251Glu (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GAG > GCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

8.3E-6

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
687	<1			UK	Homozygous	-	Severe		Jayandharan et al 2007

c.752C>T

p.Ala251Val (Legacy AA No. 191)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GTG > GCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

2.48E-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
416	4			5	Homozygous	-	Asymptomatic		Borensztajn et al 2005

c.760T>C

p.Cys254Arg (Legacy AA No. 194)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CGT > TGT

Variant Effect:

Missense

Location:

Exon (8)

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
573	3			UK	Heterozygous	2	Severe		Herrmann et al 2009

c.761G>A

p.Cys254Tyr (Legacy AA No. 194)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

TGT > TAT

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

1

No. of patients reported:

4

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
563	1			UK	Heterozygous	1	Severe		Herrmann et al 2009
413	28				Heterozygous	5	Mild		Unpublished Submission
237		<1			Heterozygous	4	unknown	other lesion unknown	Wulff et al 2000

c.791T>C

p.Leu264Pro (Legacy AA No. 204)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

CTG > CCG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

1

No. of patients reported:

2

Allele Frequency (MAF):

1.65E-5

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
787	7.5			23	Heterozygous	-	Asymptomatic		Kavlie et al 2004

c.795_805+26[7]

(Legacy AA No. 0)

Variant Type:

Indel

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Intronic

Location:

Exon (8)

No of bases:

0

No. of patients reported:

83

Allele Frequency (MAF):

0.31

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Indel | Intronic) of the variant at Exon 8

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
65		31		113	Homozygous	3	asymptomatic		Bernardi et al 1996
385	<1			6	Homozygous	5	mild		Giansily-Blaizot et al 2001
133		5			Homozygous	5	asymptomatic		Giansily-Blaizot et al 2001
30			9		Homozygous	5	asymptomatic		Tamary et al 1996
27			3.5		Homozygous	5	asymptomatic		Tamary et al 1996
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
87		<1		<1	Homozygous	7	unknown		Wulff et al 2000
57		6		61	Homozygous	6	unknown		Wulff et al 2000
102		3		4	Homozygous	6	unknown		Wulff et al 2000
216		<1			Homozygous	6	unknown		Wulff et al 2000
11		27		35	Heterozygous	4	asymptomatic		Bernardi et al 1993
95		2		10	Heterozygous	5	mild	FVII LAZIO	Bernardi et al 1993
320		27		24	Heterozygous	4	unknown	FVII LAZIO	Bernardi et al 1993
22		43		42	Heterozygous	5	asymptomatic		Bernardi et al 1993
383		52		56	Homozygous	4	unknown		Bernardi et al 1993
144		35		64	Heterozygous	3	asymptomatic		Bernardi et al 1994a
127		54		73	Heterozygous	3	unknown		Bernardi et al 1994a
69		46		75	Heterozygous	3	unknown		Bernardi et al 1994a
128		33		70	Homozygous	3	asymptomatic		Bernardi et al 1994a
81		45		73	Heterozygous	3	unknown		Bernardi et al 1994a
254		44		40	Heterozygous	3	unknown		Bernardi et al 1994b
381		59		98	Heterozygous	3	unknown		Bernardi et al 1994b
97		62		58	Heterozygous	3	unknown		Bernardi et al 1996
82		42		85	Heterozygous	3	asymptomatic		Bernardi et al 1996
98		60		50	Homozygous	3	unknown		Bernardi et al 1996
145		39		104	Homozygous	3	asymptomatic		Bernardi et al 1996
83		48		108	Homozygous	3	asymptomatic		Bernardi et al 1996
229		42		46	Heterozygous	3	asymptomatic		Bernardi et al 1996
61		50		87	Heterozygous	3	asymptomatic		Bernardi et al 1996
99		44		49	Homozygous	3	asymptomatic		Bernardi et al 1996
96		78		81	Heterozygous	3	unknown		Bernardi et al 1996
23		60		58	Heterozygous	3	unknown		Bernardi et al 1996
367	3			37	Heterozygous	5	asymptomatic	other mutation unknown	Giansily-Blaizot et al 2001
208		2			Heterozygous	6	severe		Giansily-Blaizot et al 2001
155		4		48	Homozygous	8	mild		Giansily-Blaizot et al 2001
225		<1			Homozygous	7	severe		Giansily-Blaizot et al 2001
132		5		55	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
371	<1			25	Heterozygous	6	severe		Giansily-Blaizot et al 2001
387	2			62	Heterozygous	6	mild		Giansily-Blaizot et al 2001
192	<1			8	Heterozygous	6	mild		Giansily-Blaizot et al 2001
153		2			Homozygous	7	mild	Female	Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
267	100 (bovine)		58	74	Homozygous	1	unknown		Marchetti et al 1992
266	100 (bovine)		40	70	Homozygous	2	moderate		Marchetti et al 1992
140	100 (bovine)		75	108	Homozygous	1	unknown		Marchetti et al 1992
46			39		Heterozygous	14	asymptomatic		Tamary et al 1996
43			33		Homozygous	5	asymptomatic		Tamary et al 1996
40			5		Homozygous	6	asymptomatic		Tamary et al 1996
47			28		Heterozygous	10	asymptomatic		Tamary et al 1996
44			33		Homozygous	5	asymptomatic		Tamary et al 1996
41			19		Heterozygous	10	asymptomatic		Tamary et al 1996
48			32		Homozygous	5	asymptomatic		Tamary et al 1996
45			31		Homozygous	5	asymptomatic		Tamary et al 1996
42			46		Heterozygous	10	asymptomatic		Tamary et al 1996
49			25		Homozygous	5	asymptomatic		Tamary et al 1996
414	29				Heterozygous	5	Asymptomatic	other mutation unknown	Unpublished Submission
408			1.2	21	Homozygous	5	asymptomatic		Unpublished Submission
415	30			16	Homozygous	5	Mild	Four FVII lesions were analysed in family studies.Genotype is: Cys22Phe; Glu26stop and Ala294Val; Pro404delC	Unpublished Submission
411			52	73	Heterozygous	3	asymptomatic		Unpublished Submission
329			<1	6	Heterozygous	5	mild		Unpublished Submission
413	28				Homozygous	5	Mild		Unpublished Submission
388	32				Homozygous	5	Severe	Three FVII lesions were analysed in family studies.Genotype is: Leu13 Gln;Ala294 Val (double mutation) and Gly78 Asp	Unpublished Submission
243		18		74	Heterozygous	6	unknown	other lesion unknown	Wulff et al 2000
217		10			Heterozygous	7	unknown		Wulff et al 2000
213		08-Dec			Homozygous	8	unknown		Wulff et al 2000
188		35			Heterozygous	6	unknown		Wulff et al 2000
218		4			Homozygous	7	mild		Wulff et al 2000
214		11			Homozygous	8	asymptomatic		Wulff et al 2000
86		02-Apr			Homozygous	7	unknown		Wulff et al 2000
238	15			60	Heterozygous	6	asymptomatic		Wulff et al 2000
10		14-40			Homozygous	8	asymptomatic		Wulff et al 2000
220	2 to 9				Homozygous	6	mild		Wulff et al 2000

c.795_805+26[8]

(Legacy AA No. 0)

Variant Type:

Indel

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Intronic

Location:

Exon (8)

No of bases:

0

No. of patients reported:

1

Allele Frequency (MAF):

0

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Indel | Intronic) of the variant at Exon 8

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
318		27			Heterozygous	3	unknown		Wulff et al 2000

c.796G>A

p.Ala266Thr (Legacy AA No. 206)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

GCG > ACG

Variant Effect:

Missense

Location:

Exon (8)

No of bases:

1

No. of patients reported:

6

Allele Frequency (MAF):

8.3E-6

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
492	30		UK	Heterozygous	1	Asymptomatic	Herrmann et al 2000
238	15		60	Heterozygous	6	asymptomatic	Wulff et al 2000

c.805+1G>A

(Legacy AA No. 0)

Variant Type:

Point

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Intronic

Location:

Intron (8)

No of bases:

1

No. of patients reported:

1

Allele Frequency (MAF):

3.31E-5

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Intronic) of the variant at Intron 8

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
577	1			UK	Heterozygous	1	Severe		Herrmann et al 2009

c.806_820del

p.Glu270_Ser274del (Legacy AA No. 210)

Variant Type:

Deletion

Domain:

Serine Protease

Sequence Context:

Variant Effect:

Inframe

Location:

Intron (8)

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 (Deletion | Inframe) of the variant at Intron 8

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
260	<1				Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001

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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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
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

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
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

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
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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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
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

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
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):

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
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

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
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

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
50		2		4	Homozygous	2	asymptomatic		Millar et al 2000
51		9		10	Homozygous	2	asymptomatic		Millar et al 2000
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
37			4		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
456	5			7	Heterozygous	1	Asymptomatic		Giansily-Blaizot et al 2001
131		5		44	Heterozygous	6	asymptomatic		Giansily-Blaizot et al 2001
344		3		10	Heterozygous	5	asymptomatic		Giansily-Blaizot et al 2001
266	100 (bovine)		40	70	Heterozygous	2	moderate		Marchetti et al 1992
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
40			5		Heterozygous	6	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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Patient Information : Show

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

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
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

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
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

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
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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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
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

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
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

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
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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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
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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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
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

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
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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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
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

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

Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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Molecular Graphics and Amino-acid Alignments

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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