Factor X Variant Database

Patient ID	Type	Effect	Mutation (cDNA)	Amino Acid HGVS	Amino Acid Legacy	Protein Change	Domain	Location	FXI:C (IU/dl)	FXI:C (%)	FXI:Ag (IU/dl)	FXI:Ag (%)	Inheritance of Primary Variant	Other Variants	Reported Severity	Comments	Reference
Patient ID	Type	Effect	Mutation (cDNA)	Amino Acid HGVS	Amino Acid Legacy	Protein Change	Domain	Location	FXI:C (IU/dl)	FXI:C (%)	FXI:Ag (IU/dl)	FXI:Ag (%)	Inheritance of Primary Variant	Other Variants	Reported Severity	Comments	Reference	15	Point	Missense	c.-221C>A	-	-	Undefined	<1	-	c.792C>T (p.Thr264=) AND c.-40C>T ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010
57	Point	Missense	c.-40C>T	-	-		Undefined			94		96	Homozygous		Asymptomatic	Related to pa_id: 56, 58, 59 & 60.	Millar et al 2000
58	Point	Missense	c.-40C>T	-	-		Undefined			89		101	Heterozygous		Asymptomatic	Related to pa_id: 56, 57, 59 & 60.	Millar et al 2000
55	Point	Missense	c.-40C>T	-	-		Undefined			12		26	Heterozygous	c.116C>T (p.Thr39Met) AND c.452G>A (p.Cys151Tyr)	Asymptomatic	Asymptomatic.	Millar et al 2000
56	Point	Missense	c.-40C>T	-	-		Undefined			68		74	Heterozygous	c.910G>A (p.Glu304Lys)	Asymptomatic	Asymptomatic. Related to pa_id: 57, 58, 59 & 60.	Millar et al 2000
16	Point	Missense	c.-40C>T	-	-		Undefined			<1		<1	Heterozygous	c.792C>T (p.Thr264=) AND c.1061T>G (p.Met354Arg)	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010
15	Point	Missense	c.-40C>T	-	-		Undefined			<1			-	c.792C>T (p.Thr264=) AND c.-221C>A ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010
368	Deletion	Inframe	Undefined cDNA - deletion	-	-		Undefined			2.4		10.8	Homozygous	c.1271T>C (p.Val424Ala)	Severe	Epistaxis, menorrhagia, postoperative hemorrhage. Related to pa_id: 369, 370 & 371.	Wang et al 2015
27	Point	Missense	Undefined cDNA (M402T)	402	362	p.Met402Thr	Serine protease	Exon 8		3.2		5.5	Heterozygous	Undefined cDNA (C151R) (p.Cys151Arg)	Severe	Right frontal subdural hematoma.	Liang et al 2013
131	Deletion		Undefined cDNA - deletion (Exon 2)	-	-		Gla domain	Exon 2	<1		<1		Heterozygous	c.1231C>T (p.Gln411*)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
212	Deletion		Undefined cDNA - deletion (Exons 1-8)	-	-		Undefined	Exons 1-8		48			Heterozygous		Not Reported	Combined FX and FVII deficiency. Easy bruising.	Rath et al 2015
210	Deletion		Undefined cDNA - deletion (Exons 1-8)	-	-		Undefined	Exons 1-8		51			Heterozygous		Not Reported	Combined FX and FVII deficiency. Asymptomatic.	Rath et al 2015
411	Deletion		Undefined cDNA - deletion (Exons 1-8)	-	-		Undefined	Exons 1-8		53		30	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 413, 414 & 415.	Wieland et al 1991
413	Deletion		Undefined cDNA - deletion (Exons 1-8)	-	-		Undefined	Exons 1-8		1		1.8	Heterozygous	Undefined cDNA - deletion (Exons 7-8) ( )	Not Reported	Large parietal hematoma, subarachnoid hemorrhage. Related to pa_id: 411, 412, 414 & 415.	Wieland et al 1991
402	Insertion	Frameshift	Undefined cDNA - insertion	-	-		UTR 3	Flanking UTR 3	<0.2		<0.2		Homozygous	c.1430_1434delATGCC ( )	Severe	Post-circumcision bleeding, intra-muscular and -joint bleeds. Related to pa_id: 403 & 404.	Ameri et al 2007
403	Insertion	Frameshift	Undefined cDNA - insertion	-	-		UTR 3	Flanking UTR 3	54		47		Heterozygous	c.1430_1434delATGCC ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007
404	Insertion	Frameshift	Undefined cDNA - insertion	-	-		UTR 3	Flanking UTR 3	72.7		65		Heterozygous	c.1430_1434delATGCC ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007
266	Deletion		Undefined cDNA - deletion (Exon 6)	-	-		Activation peptide	Exon 6		56			Heterozygous		Not Reported	No increased bleeding symptoms. Related to pa_id: 265.	Hainmann et al 2009
265	Deletion		Undefined cDNA - deletion (Exon 6)	-	-		Activation peptide	Exon 6		<1			Heterozygous	c.856G>A (p.Val286Met)	Severe	Microcytic anemia, tooth bleeding, hemarthrosis, hematomas. Related to pa_id: 266.	Hainmann et al 2009
26	Point	Missense	Undefined cDNA (A275T)	275	235	p.Ala275Thr	Serine protease	Exon 7		6.2		36.9	Heterozygous	c.1159C>T (p.Arg387Cys)	Severe	Gum bleeds, excessive bleeding following surgery, hemarthrosis.	Liang et al 2013
195	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	5				Homozygous		Not Reported	Related to pa_id: 193, 194, 196-200.	Al-Hilali et al 2007
186	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	4				Homozygous		Not Reported	Related to pa_id: 187-192.	Al-Hilali et al 2007
194	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4					Heterozygous		Not Reported	Related to pa_id: 195-200.	Al-Hilali et al 2007
187	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	45				Heterozygous		Not Reported	Related to pa_id: 186, 188-192.	Al-Hilali et al 2007
198	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4					Heterozygous		Not Reported	Related to pa_id: 193-197, 199, & 200.	Al-Hilali et al 2007
191	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	46				Heterozygous		Not Reported	Related to pa_id: 186-190 & 192.	Al-Hilali et al 2007
188	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	40				Heterozygous		Not Reported	Related to pa_id: 186, 187, 189-192.	Al-Hilali et al 2007
199	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	30				Heterozygous		Not Reported	Related to pa_id: 193-198, & 200.	Al-Hilali et al 2007
192	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	67				Heterozygous		Not Reported	Related to pa_id: 186-191.	Al-Hilali et al 2007
189	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	49				Heterozygous		Not Reported	Related to pa_id: 186, 187, 188, 190, 191 & 192.	Al-Hilali et al 2007
200	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	90				Heterozygous		Not Reported	Related to pa_id: 193-199.	Al-Hilali et al 2007
193	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4					Heterozygous		Not Reported	Related to pa_id: 195-200.	Al-Hilali et al 2007
197	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4					Heterozygous		Not Reported	Related to pa_id: 193-196, 198, 199, & 200.	Al-Hilali et al 2007
190	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4	46				Heterozygous		Not Reported	Related to pa_id: 186-189, 191 & 192.	Al-Hilali et al 2007
196	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4					-		Not Reported	Related to pa_id: 193, 194, 195, 197-200.	Al-Hilali et al 2007
413	Deletion		Undefined cDNA - deletion (Exons 7-8)	-	-		Serine protease	Exons 7-8		1		1.8	Heterozygous	Undefined cDNA - deletion (Exons 1-8) ( )	Not Reported	Large parietal hematoma, subarachnoid hemorrhage. Related to pa_id: 411, 412, 414 & 415.	Wieland et al 1991
414	Deletion		Undefined cDNA - deletion (Exons 7-8)	-	-		Serine protease	Exons 7-8		54		42	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 411, 412, 413 & 415.	Wieland et al 1991
415	Deletion		Undefined cDNA - deletion (Exons 7-8)	-	-		Serine protease	Exons 7-8		24		29	Heterozygous		Not Reported	No bleeding history. Assayed in utero. Related to pa_id: 411-414.	Wieland et al 1991
412	Deletion		Undefined cDNA - deletion (Exons 7-8)	-	-		Serine protease	Exons 7-8		58		39	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 413, 414 & 415.	Wieland et al 1991
406	Point	Splice site	IVS5+1G>A	-	-		Splice Site	Intron 5		55.96		59.45	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405, 407-410.	Zhou et al 2013
407	Point	Splice site	IVS5+1G>A	-	-		Splice Site	Intron 5		0.22		53.79	Heterozygous	Undefined cDNA - deletion (D408del) (p.Asp408del)	Not Reported	Epistaxis, gum bleeding. Related to pa_id: 405, 406, 408, 409 & 410.	Zhou et al 2013
408	Point	Splice site	IVS5+1G>A	-	-		Splice Site	Intron 5		50.77		67.34	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405, 406, 407, 409 & 410.	Zhou et al 2013
405	Point	Splice site	IVS5+1G>A	-	-		Splice Site	Intron 5		0.22		53.36	Heterozygous	Undefined cDNA - deletion (D408del) (p.Asp408del)	Severe	Epistaxis, gum bleeding. Related to pa_id: 406-410.	Zhou et al 2013
409	Point	Splice site	IVS5+1G>A	-	-		Splice Site	Intron 5		42.53		60.19	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405-408 & 410.	Zhou et al 2013
185	Point	Nonsense	Undefined cDNA (Y170*)	170	130	p.Tyr170*	Linker	Exon 6		<1		2	Heterozygous	c.212T>C (p.Phe71Ser)	Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007
75	Point	Splice site	IVS1+3A>T	-	-		Splice Site	Intron 1				7	Homozygous		Severe		Peyvandi et al 2002
286	Deletion		Undefined cDNA - deletion (Exon 1)	-	-		Pre-pro leader	Exon 1	40				Heterozygous		Not Reported	Epistaxis gum bleeding. (Combined FX & FVII deficiency). Related to pa_id: 285.	Pavlova et al 2015
285	Deletion		Undefined cDNA - deletion (Exon 1)	-	-		Pre-pro leader	Exon 1	36				Heterozygous		Not Reported	Epistaxis gum bleeding. (Combined FX & FVII deficiency). Related to pa_id: 286.	Pavlova et al 2015
399	Deletion	Inframe	Undefined cDNA - deletion (Intron 4)	-	-		Intronic Region	Intron 4		2.5		<5	Homozygous		Not Reported	Frequent subcutaneous hemorrhage, epistaxis, hypermenorrhea, prolonged bleeding after labour and tooth extraction. Related to pa_id: 400 & 401.	Hayashi et al 1998
400	Deletion	Inframe	Undefined cDNA - deletion (Intron 4)	-	-		Intronic Region	Intron 4		50			Heterozygous		Not Reported	Related to pa_id: 399 & 401.	Hayashi et al 1998
401	Deletion	Inframe	Undefined cDNA - deletion (Intron 4)	-	-		Intronic Region	Intron 4		69			Heterozygous		Not Reported	Related to pa_id: 399 & 400.	Hayashi et al 1998
395	Deletion		Undefined cDNA - deletion (Exons7-8)	-	-		Serine protease	Exons 7-8		38		35	Heterozygous		Not Reported	Related to pa_id: 394.	Bernardi et al 1989
394	Deletion		Undefined cDNA - deletion (Exons7-8)	-	-		Serine protease	Exons 7-8		4		7	Heterozygous		Not Reported	Paternal mutation not identified in analysis. Related to pa_id: 395 & 396.	Bernardi et al 1989
8	Point	Silent	Undefined cDNA (G299=)	299	259	p.Gly299=	Serine protease	Exon 8		<1		<1	Homozygous	c.44C>A (p.Ala15Asp)	Severe	Hemarthrosis.	Mota et al 2010
7	Point	Silent	Undefined cDNA (G299=)	299	259	p.Gly299=	Serine protease	Exon 8		<1		<1	Homozygous	c.44C>A (p.Ala15Asp)	Severe	Hemarthrosis.	Mota et al 2010
10	Point	Silent	Undefined cDNA (G299=)	299	259	p.Gly299=	Serine protease	Exon 8		<1		<1	Heterozygous	c.44C>A (p.Ala15Asp)	Mild	Echymosis, gum bleeds.	Mota et al 2010
28	Point	Missense	Undefined cDNA (A12P)	12	-29	p.Ala12Pro	Pre-pro leader	Exon 1		55.9		54.7	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 25 & 29.	Liang et al 2013
25	Point	Missense	Undefined cDNA (A12P)	12	-29	p.Ala12Pro	Pre-pro leader	Exon 1		7.4		9.5	Heterozygous	Undefined cDNA (F364L) (p.Phe364Leu)	Mild	Scrotal hematoma, hematuria, intramuscular hematoma. Related to pa_id: 28 & 29.	Liang et al 2013
407	Deletion	Inframe	Undefined cDNA - deletion (D408del)	408	-	p.Asp408del	Serine protease	Exon 8		0.22		53.79	Heterozygous	IVS5+1G>A ( )	Not Reported	Epistaxis, gum bleeding. Related to pa_id: 405, 406, 408, 409 & 410.	Zhou et al 2013
410	Deletion	Inframe	Undefined cDNA - deletion (D408del)	408	-	p.Asp408del	Serine protease	Exon 8		71.73		101.41	Heterozygous		Not Reported	No bleeding history. Related to pa_id: 405-409.	Zhou et al 2013
405	Deletion	Inframe	Undefined cDNA - deletion (D408del)	408	-	p.Asp408del	Serine protease	Exon 8		0.22		53.36	Heterozygous	IVS5+1G>A ( )	Severe	Epistaxis, gum bleeding. Related to pa_id: 406-410.	Zhou et al 2013
88	Point	Splice site	IVS2-3T>G	-	-		Splice Site	Intron 2				3	Homozygous		Severe	Knee hemarthrosis, hematomas, epistaxis, oral bleeds.	Peyvandi et al 2002
289	Deletion		Undefined cDNA - deletion (Exons 1-6)	-	-		Undefined	Exons 1-6	2				Heterozygous	c.1147C>T (p.Pro383Ser)	Not Reported	Epistaxis gum bleeding, severe postoperative bleeding. (Combined FX & FVII deficiency).	Pavlova et al 2015
211	Deletion		Undefined cDNA - deletion (Exons 1-6)	-	-		Undefined	Exons 1-6		<1			Heterozygous	c.162_165delAAGA (p.Glu54GlufsX59)	Not Reported	Combined FX and FVII deficiency. Severe periumbilical bleeding and cutaneous post-natal bruises.	Rath et al 2015
402	Deletion	Frameshift	c.1430_1434delATGCC	-	-		Serine protease	Exon 8	<0.2		<0.2		Homozygous	Undefined cDNA - insertion ( )	Severe	Post-circumcision bleeding, intra-muscular and -joint bleeds. Related to pa_id: 403 & 404.	Ameri et al 2007
403	Deletion	Frameshift	c.1430_1434delATGCC	-	-		Serine protease	Exon 8	54		47		Heterozygous	Undefined cDNA - insertion ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007
404	Deletion	Frameshift	c.1430_1434delATGCC	-	-		Serine protease	Exon 8	72.7		65		Heterozygous	Undefined cDNA - insertion ( )	Not Reported	Related to pa_id: 402.	Ameri et al 2007
27	Point	Missense	Undefined cDNA (C151R)	151	111	p.Cys151Arg	EGF-2	Exon 5		3.2		5.5	Heterozygous	Undefined cDNA (M402T) (p.Met402Thr)	Severe	Right frontal subdural hematoma.	Liang et al 2013
376	Point	Splice site	IVS1+1G>A	-	-		Splice Site	Intron 1		15		15	Heterozygous	c.1276C>T (p.Arg426Cys)	Not Reported	Minor hematuria, epistaxis, postoperative bleeding.	Vanden Hoek et al 2012
29	Point	Missense	Undefined cDNA (F364L)	364	324	p.Phe364Leu	Serine protease	Exon 8		55.5		57.1	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 25 & 28.	Liang et al 2013
25	Point	Missense	Undefined cDNA (F364L)	364	324	p.Phe364Leu	Serine protease	Exon 8		7.4		9.5	Heterozygous	Undefined cDNA (A12P) (p.Ala12Pro)	Mild	Scrotal hematoma, hematuria, intramuscular hematoma. Related to pa_id: 28 & 29.	Liang et al 2013
149	Point	Missense	c.1A>G	1	-40	p.Met1Val	Pre-pro leader	Exon 1	<1				Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
2	Point	Missense	c.1A>G	1	-40	p.Met1Val	Pre-pro leader	Exon 1		44		48	Heterozygous		Not Reported	Related to pa_id: 1.	Miyata et al 1998
1	Point	Missense	c.1A>G	1	-40	p.Met1Val	Pre-pro leader	Exon 1		4		7	Heterozygous	c.792C>T (p.Thr264=) AND c.1030C>T (p.Pro344Ser)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
19	Point	Missense	c.22G>T	8	-33	p.Val8Phe	Pre-pro leader	Exon 1		<1			Heterozygous	c.792C>T (p.Thr264=) AND c.1066C>T (p.Gln356*)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010
17	Point	Missense	c.22G>T	8	-33	p.Val8Phe	Pre-pro leader	Exon 1		<1		6	Heterozygous		Severe	Menorrhagia, bad obstetric history.	Mota et al 2010
20	Point	Missense	c.33T>G	11	-30	p.Ser11Arg	Pre-pro leader	Exon 1		2.6		8.2	Homozygous		Severe	Bleeding after trauma. Related to pa_id: 21,22 & 23.	Wang et al 2005
21	Point	Missense	c.33T>G	11	-30	p.Ser11Arg	Pre-pro leader	Exon 1		49.9		53.4	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id 20, 22 & 23.	Wang et al 2005
22	Point	Missense	c.33T>G	11	-30	p.Ser11Arg	Pre-pro leader	Exon 1		71.2		75.8	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 20, 21 & 23.	Wang et al 2005
23	Point	Missense	c.33T>G	11	-30	p.Ser11Arg	Pre-pro leader	Exon 1		69.8		72	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 20, 21 & 22.	Wang et al 2005
30	Point	Missense	c.44C>A	15	-26	p.Ala15Asp	Pre-pro leader	Exon 1		<2			Homozygous		Severe	Umbilical cord bleed, hemarthrosis.	Borhany et al 2018
8	Point	Missense	c.44C>A	15	-26	p.Ala15Asp	Pre-pro leader	Exon 1		<1		<1	Homozygous	Undefined cDNA (G299=) (p.Gly299=)	Severe	Hemarthrosis.	Mota et al 2010
7	Point	Missense	c.44C>A	15	-26	p.Ala15Asp	Pre-pro leader	Exon 1		<1		<1	Homozygous	Undefined cDNA (G299=) (p.Gly299=)	Severe	Hemarthrosis.	Mota et al 2010
10	Point	Missense	c.44C>A	15	-26	p.Ala15Asp	Pre-pro leader	Exon 1		<1		<1	Heterozygous	Undefined cDNA (G299=) (p.Gly299=)	Mild	Echymosis, gum bleeds.	Mota et al 2010
157	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		<1		2	Homozygous		Severe	Epistaxis, hematuria, hemarthroses, bleeding post dental extraction and cicumcision. Related to pa_id: 154, 155, 156, 158 & 159.	Karimi et al 2008
154	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		<1		4	Homozygous		Severe	Gum bleeding, hemarthroses, hematomas. Related to pa_id: 155-159.	Karimi et al 2008
155	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		<1		5	Homozygous		Severe	Gum bleeding, hemarthroses, hematomas. Related to pa_id: 154, 156-159.	Karimi et al 2008
160	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		<1		<1	Homozygous		Severe	Gum bleeding, epistaxis, ecchymoses, menorrhagia. Related to pa_id: 161.	Karimi et al 2008
67	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		2		3	Homozygous		Not Reported	Significant hemorrhagic symptoms. Related to pa_id: 68 & 69.	Millar et al 2000
68	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		1			Homozygous		Not Reported	Related to pa_id: 67 & 69.	Millar et al 2000
69	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		1			Homozygous		Not Reported	Related to pa_id: 67 & 68.	Millar et al 2000
128	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1	<1		5		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
130	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1	<1		3		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
138	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1	3		8		Homozygous		Moderate	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
13	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		<1			Homozygous		Severe	Hemetemesis, CNS bleed, hemarthrosis.	Mota et al 2010
427	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		1			Homozygous		Moderate	Cardiac tamponade. Dyspnea on exertion and orthopnea. Epistaxis. Prolonged bleeding following appendectomy.	Othman et al 2019
72	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		<1		5	Homozygous		Severe	Heavy menstrual bleeding. Related to pa_id: 73 & 74.	Watzke et al 1991
161	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		42		36	Heterozygous		Not Reported	Asymptomatic. Related to pa_id: 160.	Karimi et al 2008
158	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		46		44	Heterozygous		Not Reported	Post dental extraction bleeding. Related to pa_id: 154, 155 & 156.	Karimi et al 2008
159	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		64		48	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 154, 155 & 156.	Karimi et al 2008
156	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		23		43	Heterozygous		Not Reported	Gum bleeding, epistaxis, post-trauma hemarthroses, hematomas, bleeding post dental extraction and circumcision. Related to pa_id: 154, 155, 157, 158 & 159.	Karimi et al 2008
127	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1	<1		1		Heterozygous	c.736T>C (p.Cys246Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
73	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		38		50	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 72.	Watzke et al 1991
74	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		29		50	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 72.	Watzke et al 1991
90	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1		0.7			-		Severe	Menorrhagia, hemarthrosis, hematoma.	Karimi et al 2012
146	Point	Splice site	c.70+2T>G	-	-		Splice Site		<1				Heterozygous	c.257-1G>C ( )	Severe	History of severe bleeding.	Mitchell et al 2019
129	Point	Splice site	c.70+4A>G	-	-		Splice Site		<1		15		Heterozygous	c.170G>T (p.Cys57Phe)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
139	Point	Splice site	c.71-1G>C	-	-		Splice Site		6		55		Heterozygous	c.955T>C (p.Tyr319His)	Mild	History of unusual bleeding.	Mitchell et al 2019
55	Point	Missense	c.116C>T	39	-2	p.Thr39Met	Pre-pro leader	Exon 2		12		26	Heterozygous	c.452G>A (p.Cys151Tyr) AND c.-40C>T ( )	Asymptomatic	Asymptomatic.	Millar et al 2000
77	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2		<1		43	Homozygous		Severe	Hemarthrosis, hematomas, umbilical cord bleeding. Related to pa_id: 76.	Peyvandi et al 2002
78	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2		3		59	Homozygous		Severe	Hemarthrosis, hematomas, umbilical cord bleeding.	Peyvandi et al 2002
79	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2		7		57	Homozygous		Severe	Hemarthrosis, hematomas, umbilical cord bleeding.	Peyvandi et al 2002
76	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2		<1		66	Homozygous		Severe	Hemarthrosis, hematomas, umbilical cord bleeding. Related to pa_id: 77.	Peyvandi et al 2002
96	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2		0.7			-		Severe	Epistaxis, hematuria, gum bleeding, intracranial hemorrhage.	Karimi et al 2012
95	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2		0.8			-		Severe	Epistaxis, gum bleeding.	Karimi et al 2012
101	Point	Missense	c.128C>G	43	3	p.Ser43Cys	Gla domain	Exon 2		19		54	Homozygous		Not Reported	Severe bleeding symptoms (epistaxis and menorrhagia). Mild FX deficiency and severe FVII deficiency. Related to pa_id: 100, 102 & 103.	Menegatti et al 2004
100	Point	Missense	c.128C>G	43	3	p.Ser43Cys	Gla domain	Exon 2		10		42	Homozygous		Not Reported	Severe bleeding symptoms (muscle hematomas, gastrointestinal hemorrhages). Mild FX deficiency and severe FVII deficiency. Related to pa_id:101, 102 &103.	Menegatti et al 2004
102	Point	Missense	c.128C>G	43	3	p.Ser43Cys	Gla domain	Exon 2		75		83	Heterozygous		Not Reported	Related to pa_id: 100 & 101.	Menegatti et al 2004
103	Point	Missense	c.128C>G	43	3	p.Ser43Cys	Gla domain	Exon 2		56		67	Heterozygous		Not Reported	Related to pa_id: 100 & 101.	Menegatti et al 2004
222	Deletion	Frameshift	c.139delG	-	-		Gla domain	Exon 2		<5			Heterozygous	c.517G>T (p.Gly173Trp)	Severe	Petechiae at birth, subcutaneous hematoma, mild hematuria.	Corsini et al 2015
353	Point	Missense	c.140A>G	47	7	p.Glu47Gly	Gla domain	Exon 2	50		50		Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 352.	Deam et al 2004
352	Point	Missense	c.140A>G	47	7	p.Glu47Gly	Gla domain	Exon 2	3		25		Heterozygous	c.1187T>G (p.Phe396Cys)	Asymptomatic	No history of bleeding. Related to pa_id: 353 & 354.	Deam et al 2004
97	Point	Missense	c.151G>A	51	11	p.Gly51Arg	Gla domain	Exon 2		0.8			-		Severe	Hemarthrosis, gum bleeding, intracranial hemorrhage.	Karimi et al 2012
104	Point	Missense	c.152G>T	51	11	p.Gly51Val	Gla domain	Exon 2		<1		75	Homozygous		Severe	Umbilical cord bleeding, possible undiagnosed cerebral hemorrhage (paraplegia), epistaxis, bleeding upon tooth loss. Related to pa_id: 105 & 106.	Chafa et al 2009
105	Point	Missense	c.152G>T	51	11	p.Gly51Val	Gla domain	Exon 2		66		85	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 104.	Chafa et al 2009
106	Point	Missense	c.152G>T	51	11	p.Gly51Val	Gla domain	Exon 2		57			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 104.	Chafa et al 2009
53	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2		0.7		37	Homozygous		Asymptomatic	Related to pa_id: 50, 51, 52 & 54.	Millar et al 2000
50	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2		0.8		40	Homozygous		Asymptomatic	Asymptomatic. Related to pa_id: 51, 52, 53 & 54.	Millar et al 2000
54	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2		2			Homozygous		Asymptomatic	Related to pa_id: 50, 51, 52 & 53.	Millar et al 2000
115	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Homozygous		Not Reported	No bleeding history (but minor gum bleeding and vaginal bleeding during late stages of pregancy). Related to pa_id: 116 & 117.	Van Dievoet et al 2019
107	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Homozygous	c.424G>A (p.Glu142Lys)	Not Reported	Mild bruising but no apparent bleeding tendency. Related to pa_id: 108-114.	Watzke et al 1990
108	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Homozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107, 109-114.	Watzke et al 1990
109	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Homozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107, 108, 110-114.	Watzke et al 1990
51	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2		42		62	Heterozygous		Asymptomatic	Related to pa_id: 50, 52, 53 & 54.	Millar et al 2000
52	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2		35		42	Heterozygous		Asymptomatic	Related to pa_id: 50, 51, 53 & 54.	Millar et al 2000
110	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107, 108, 109, 111-114.	Watzke et al 1990
114	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-113.	Watzke et al 1990
111	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-110, 112, 113 & 114.	Watzke et al 1990
112	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-111, 113 & 114.	Watzke et al 1990
113	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					Heterozygous	c.424G>A (p.Glu142Lys)	Not Reported	Related to pa_id: 107-112 & 114.	Watzke et al 1990
117	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					-		Not Reported	Heavy blood loss at menarche. Related to pa_id: 115 & 116.	Van Dievoet et al 2019
116	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2					-		Asymptomatic	No bleeding history. Related to pa_id: 115 & 117.	Van Dievoet et al 2019
118	Point	Missense	c.161A>G	54	14	p.Glu54Gly	Gla domain	Exon 2		5		20	Homozygous		Mild	Life-long bleeding tendency.	Kim, Thompson & James 1995
211	Deletion	Frameshift	c.162_165delAAGA	-	-	p.Glu54GlufsX59	Gla domain	Exon 2		<1			Heterozygous	Undefined cDNA - deletion (Exons 1-6) ( )	Not Reported	Combined FX and FVII deficiency. Severe periumbilical bleeding and cutaneous post-natal bruises.	Rath et al 2015
416	Deletion	Frameshift	c.162_165delAAGA	-	-	p.Glu54GlufsX59	Gla domain	Exon 2	<1	<1			Heterozygous		Severe	Major bleeding (periumbilical bleeding, cutaneous bruising and oropharyngeal bleeding). Related to pa_id: 417 & 418.	Tan et al 2012
418	Deletion	Frameshift	c.162_165delAAGA	-	-	p.Glu54GlufsX59	Gla domain	Exon 2	73				Heterozygous		Not Reported	No bleeding history. Related to pa_id: 416.	Tan et al 2012
120	Point	Missense	c.166G>A	56	16	p.Glu56Lys	Gla domain	Exon 2	<1		37		Heterozygous	c.1012G>A (p.Val338Met)	Severe	Risk of intracranial bleeding during birth. Mucosal and joint bleeds. Related to pa_id: 119, 121 & 122.	Ingerslev et al 2007
119	Point	Missense	c.166G>A	56	16	p.Glu56Lys	Gla domain	Exon 2	<1		66		Heterozygous	c.1012G>A (p.Val338Met)	Severe	Hemarthrosis of knee joint. Related to pa_id: 120, 121 & 122.	Ingerslev et al 2007
122	Point	Missense	c.166G>A	56	16	p.Glu56Lys	Gla domain	Exon 2	45		47		-		Asymptomatic	Asymptomatic. Related to pa_id: 119 & 120.	Ingerslev et al 2007
31	Point	Missense	c.169T>C	57	17	p.Cys57Arg	Gla domain	Exon 2		<2			Heterozygous	c.1258G>A (p.Gly420Arg)	Severe	Umbilical cord bleed, hemarthrosis, intracranial hemorrhage, hemoptysis.	Borhany et al 2018
129	Point	Missense	c.170G>T	57	17	p.Cys57Phe	Gla domain	Exon 2	<1		15		Heterozygous	c.70+4A>G ( )	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
150	Point	Missense	c.176A>C	59	19	p.Glu59Ala	Gla domain	Exon 2				17	Homozygous		Not Reported	Moderate hemorrhage after labour, metrorrhagia episodes. Related to pa_id: 151, 152 & 153.	Pinotti et al 2002
151	Point	Missense	c.176A>C	59	19	p.Glu59Ala	Gla domain	Exon 2					Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 150, 152 & 153.	Pinotti et al 2002
152	Point	Missense	c.176A>C	59	19	p.Glu59Ala	Gla domain	Exon 2					Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 150, 151 & 153.	Pinotti et al 2002
153	Point	Missense	c.176A>C	59	19	p.Glu59Ala	Gla domain	Exon 2					Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 150, 151 & 152.	Pinotti et al 2002
162	Point	Missense	c.205G>A	69	29	p.Glu69Lys	Gla domain	Exon 2		<1		19	Homozygous		Severe	Gum bleeding, hemarthroses, hematomas, epistaxis, CNS bleeding, umbilical cord bleeding. Related to pa_id: 163 & 164.	Karimi et al 2008
163	Point	Missense	c.205G>A	69	29	p.Glu69Lys	Gla domain	Exon 2		65		52	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 162.	Karimi et al 2008
164	Point	Missense	c.205G>A	69	29	p.Glu69Lys	Gla domain	Exon 2		54		52	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 162.	Karimi et al 2008
98	Point	Missense	c.205G>A	69	29	p.Glu69Lys	Gla domain	Exon 2		0.4			-		Severe	Hemarthrosis, epistaxis, gum bleeding, intracranial hemorrhage.	Karimi et al 2012
178	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		8		18	Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007
182	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		4	Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Relatde to pa_id: 181	Akhavan et al 2007
179	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		7	Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 180.	Akhavan et al 2007
183	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		15	Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 184.	Akhavan et al 2007
180	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		14	Homozygous		Severe	Infant died at 4yrs due to intracranial hemorrhange. Related to pa_id: 179.	Akhavan et al 2007
184	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		16	Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 183.	Akhavan et al 2007
181	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		7	Homozygous		Severe	Severe bleeding (spontaneous and/or life-threatening). Related to pa_id: 182.	Akhavan et al 2007
123	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2	<1		9		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
185	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2		<1		2	Heterozygous	Undefined cDNA (Y170) (p.Tyr170)	Severe	Severe bleeding (spontaneous and/or life-threatening).	Akhavan et al 2007
146	Point	Splice site	c.257-1G>C	-	-		Splice Site		<1				Heterozygous	c.70+2T>G ( )	Severe	History of severe bleeding.	Mitchell et al 2019
140	Point	Missense	c.268T>C	90	50	p.Cys90Arg	EGF-1	Exon 4	8		48		Heterozygous	c.1247A>T (p.Gln416Leu)	Mild	History of unusual bleeding.	Mitchell et al 2019
11	Point	Missense	c.295G>C	99	59	p.Gly99Arg	EGF-1	Exon 4		<1		20	Homozygous		Severe	Menorrhagia, bad obstetric history.	Mota et al 2010
425	Deletion	Frameshift	c.302delG	-	-		EGF-1	Exon 4	<1		1.2		Homozygous		Severe	Intracranial hemorrhage.	Livnat et al 2011
426	Deletion	Frameshift	c.302delG	-	-		EGF-1	Exon 4	<1				Homozygous		Severe	Intracranial hemorrhage.	Livnat et al 2011
424	Deletion	Frameshift	c.302delG	-	-		EGF-1	Exon 4	<1				Homozygous		Severe	Umbilical stump bleeding.	Livnat et al 2011
165	Point	Missense	c.307G>C	103	63	p.Asp103His	EGF-1	Exon 4		<1			Homozygous		Not Reported	Gum bleeding, hematomas, menorrhagia, bleeding after labour. Related to pa_id: 166 & 167.	Karimi et al 2008
166	Point	Missense	c.307G>C	103	63	p.Asp103His	EGF-1	Exon 4		44			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 165.	Karimi et al 2008
167	Point	Missense	c.307G>C	103	63	p.Asp103His	EGF-1	Exon 4		46			Heterozygous		Not Reported	Prolonged bleeding after labour. Related to pa_id: 165.	Karimi et al 2008
202	Point	Nonsense	c.349G>T	117	77	p.Glu117*	EGF-1	Exon 4		54		52	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 201.	Arita et al 2018
201	Point	Nonsense	c.349G>T	117	77	p.Glu117*	EGF-1	Exon 4		33		33	Heterozygous		Not Reported	Prolonged hemorrhage after resection of endocervical polyp. Related to pa_id: 202.	Arita et al 2018
80	Point	Missense	c.353G>A	118	78	p.Gly118Asp	EGF-1	Exon 4		<1		8	Homozygous		Severe	Bleeding after circumcision, hemarthrosis, hematomas, hematuria, mucosal bleeding.	Peyvandi et al 2002
203	Point	Missense	c.353G>A	118	78	p.Gly118Asp	EGF-1	Exon 4		<1		5	Heterozygous	c.1303G>A (p.Gly435Ser)	Not Reported	Easy bruising, umbilical cord bleeding at birth, subcutaneous hematomas on waist and back. Related to pa_id: 204, 205 & 206.	Togashi et al 2020
204	Point	Missense	c.353G>A	118	78	p.Gly118Asp	EGF-1	Exon 4		50		52	Heterozygous		Not Reported	Related to pa_id: 203 & 205.	Togashi et al 2020
205	Point	Missense	c.353G>A	118	78	p.Gly118Asp	EGF-1	Exon 4		39		36	Heterozygous		Not Reported	Related to pa_id: 203, 204 & 206.	Togashi et al 2020
208	Point	Missense	c.361T>C	121	81	p.Cys121Arg	EGF-1	Exon 4		40		43	Heterozygous		Not Reported	Related to pa_id: 207 & 209.	Jin et al 2018
209	Point	Missense	c.361T>C	121	81	p.Cys121Arg	EGF-1	Exon 4		42		47	Heterozygous		Not Reported	Related to pa_id: 207 & 208.	Jin et al 2018
207	Point	Missense	c.361T>C	121	81	p.Cys121Arg	EGF-1	Exon 4		35		43	Heterozygous		Not Reported	Suffers from FX and FVII deficiency (FVII Arg353Gln). Related to pa_id: 208 & 209.	Jin et al 2018
82	Point	Missense	c.362G>A	121	81	p.Cys121Tyr	EGF-1	Exon 4		9		14	Homozygous		Severe	Severe bleeding (umbilical cord bleeding, hematomas, hematuria, hemarthrosis, gastrointestinal bleeds).	Peyvandi et al 2002
81	Point	Missense	c.362G>A	121	81	p.Cys121Tyr	EGF-1	Exon 4		25		28	Homozygous		Severe	Severe bleeding (umbilical cord bleeding, hematomas, hematuria, hemarthrosis, gastrointestinal bleeds).	Peyvandi et al 2002
168	Point	Missense	c.400G>A	134	94	p.Gly134Arg	EGF-2	Exon 5		<1		3	Homozygous		Severe	Bleeding post-circumcision and dental extraction, hematomas. Related to pa_id: 169 & 170.	Karimi et al 2008
84	Point	Missense	c.400G>A	134	94	p.Gly134Arg	EGF-2	Exon 5		<1		3	Homozygous	c.405C>A (p.Asp135Glu)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 83.	Peyvandi et al 2002
83	Point	Missense	c.400G>A	134	94	p.Gly134Arg	EGF-2	Exon 5		2		4	Homozygous	c.405C>A (p.Asp135Glu)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 84.	Peyvandi et al 2002
169	Point	Missense	c.400G>A	134	94	p.Gly134Arg	EGF-2	Exon 5		40		38	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 168.	Karimi et al 2008
170	Point	Missense	c.400G>A	134	94	p.Gly134Arg	EGF-2	Exon 5		45		40	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 168.	Karimi et al 2008
84	Point	Missense	c.405C>A	135	95	p.Asp135Glu	EGF-2	Exon 5		<1		3	Homozygous	c.400G>A (p.Gly134Arg)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 83.	Peyvandi et al 2002
83	Point	Missense	c.405C>A	135	95	p.Asp135Glu	EGF-2	Exon 5		2		4	Homozygous	c.400G>A (p.Gly134Arg)	Severe	Hematomas, hemarthosis, epistaxis, oral bleeds. Related to pa_id: 84.	Peyvandi et al 2002
108	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Homozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107, 109-114.	Watzke et al 1990
109	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Homozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107, 108, 110-114.	Watzke et al 1990
107	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Homozygous	c.160G>A (p.Glu54Lys)	Not Reported	Mild bruising but no apparent bleeding tendency. Related to pa_id: 108-114.	Watzke et al 1990
217	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5		54		72	Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No family history of bleeding. Related to pa_id: 219.	Marchetti et al 1995
219	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5		68		66	Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No family history of bleeding. Related to pa_id: 217.	Marchetti et al 1995
213	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5		53			Heterozygous		Not Reported		Rath et al 2015
112	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-111, 113 & 114.	Watzke et al 1990
113	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-112 & 114.	Watzke et al 1990
110	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107, 108, 109, 111-114.	Watzke et al 1990
114	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-113.	Watzke et al 1990
111	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5					Heterozygous	c.160G>A (p.Glu54Lys)	Not Reported	Related to pa_id: 107-110, 112, 113 & 114.	Watzke et al 1990
293	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5	50				-		Not Reported	Asymptomatic. (Combined FX & FVII deficiency).	Pavlova et al 2015
221	Point	Nonsense	c.430C>T	144	104	p.Gln144*	EGF-2	Exon 5		46			-		Asymptomatic	Related to pa_id:220.	Bang et al 2012
220	Point	Nonsense	c.430C>T	144	104	p.Gln144*	EGF-2	Exon 5		1			-		Moderate	Subdural hemorrhage and abscess. Recurrent hemorrhagic episodes. Treated successfully via liver-transplantation. Related to pa_id: 221.	Bang et al 2012
41	Point	Missense	c.446G>A	149	109	p.Cys149Tyr	EGF-2	Exon 5		<1		23	Homozygous		Severe	Significant hemorrhagic symptoms. Related to pa_id: 42.	Millar et al 2000
42	Point	Missense	c.446G>A	149	109	p.Cys149Tyr	EGF-2	Exon 5		59		41	Heterozygous		Not Reported	Related to pa_id: 41.	Millar et al 2000
55	Point	Missense	c.452G>A	151	111	p.Cys151Tyr	EGF-2	Exon 5		12		26	Heterozygous	c.116C>T (p.Thr39Met) AND c.-40C>T ( )	Asymptomatic	Asymptomatic.	Millar et al 2000
222	Point	Missense	c.517G>T	173	133	p.Gly173Trp	Linker	Exon 6		<5			Heterozygous	c.139delG ( )	Severe	Petechiae at birth, subcutaneous hematoma, mild hematuria.	Corsini et al 2015
33	Point	Nonsense	c.523T>C	175	135	p.Gln175*	Linker	Exon 6		2			Homozygous		Severe	Umbilical cord bleed, intracranial hemorrhage, hematoma.	Borhany et al 2018
254	Deletion	Inframe	c.526_558del	-	-	p.Thr176_Gln186	Activation peptide	Exon 6		4		35	Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, hematuria, easy bruising, muscle hematoma.	Epcacan et al 2015
223	Point	Missense	c.535C>A	179	139	p.Arg179Ser	Linker	Exon 6		27		72	Homozygous		Not Reported	Severe bleeding following fracture of humerus. Related to pa_id: 224.	Iijima et al 2001
224	Point	Missense	c.535C>A	179	139	p.Arg179Ser	Linker	Exon 6		64		95	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id:223.	Iijima et al 2001
379	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		60		54	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 384-389.	Simioni et al 2001
388	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		11		62	Heterozygous	c.1344G>C (p.Lys448Asn)	Asymptomatic	Asymptomatic. Related to pa_id: 377-387 & 389.	Simioni et al 2001
384	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		8		55	Heterozygous	c.1344G>C (p.Lys448Asn)	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 385-389.	Simioni et al 2001
389	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		70		56	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377-388.	Simioni et al 2001
385	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		11		75	Heterozygous	c.1344G>C (p.Lys448Asn)	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 384, 386-389.	Simioni et al 2001
377	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		9		72	Heterozygous	c.1344G>C (p.Lys448Asn)	Not Reported	Hematomas, epistaxis. (Severe thrombocytopenia due to acute lymphoblastic leukemia could contribute to bleeding symptoms.) Related to pa_id: 378-389.	Simioni et al 2001
386	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6		74		67	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 384, 385, 387, 388 & 389.	Simioni et al 2001
234	Point	Missense	c.631A>C	211	171	p.Thr211Pro	Activation peptide	Exon 6		96.1		90.7	Homozygous		Not Reported	Related to pa_id: 231, 232, 233 & 235.	Ding et al 2013
231	Point	Missense	c.631A>C	211	171	p.Thr211Pro	Activation peptide	Exon 6		108.3		91.92	Homozygous		Not Reported	Bleed in left fossa iliac, easy bruising, oral and uterine bleeding. Related to pa_id: 232-235.	Ding et al 2013
232	Point	Missense	c.631A>C	211	171	p.Thr211Pro	Activation peptide	Exon 6		129.3			Heterozygous		Not Reported	Related to pa_id: 231, 234 & 235.	Ding et al 2013
233	Point	Missense	c.631A>C	211	171	p.Thr211Pro	Activation peptide	Exon 6		134.6			Heterozygous		Not Reported	Related to pa_id: 231, 234 & 235.	Ding et al 2013
235	Point	Missense	c.631A>C	211	171	p.Thr211Pro	Activation peptide	Exon 6		143.2		123.5	Heterozygous		Not Reported	Related to pa_id: 231-234.	Ding et al 2013
287	Point	Missense	c.706G>A	236	196	p.Val236Met	Serine Protease	Exon 6	52				-		Asymptomatic	Asymptomatic. (Combined FX & FVII deficiency). Related to pa_id: 288.	Pavlova et al 2015
288	Point	Missense	c.706G>A	236	196	p.Val236Met	Serine Protease	Exon 6	56				-		Asymptomatic	Asymptomatic. Related to pa_id: 287.	Pavlova et al 2015
236	Point	Missense	c.706G>A	236	196	p.Val236Met	Serine Protease	Exon 6		51		100	-		Asymptomatic	No bleeding history.	Shinohara et al 2008
240	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		1		0	Homozygous		Severe	Subdural hematoma, easy bruising. Related to pa_id: 241.	Bereczky et al 2008
171	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		<1		<1	Homozygous		Severe	Bleeding post-circumcision, hemarthroses. Related to pa_id: 172 & 173.	Karimi et al 2008
85	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		6		7	Homozygous		Severe	Severe bleeding.	Peyvandi et al 2002
241	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6					Heterozygous		Not Reported	No bleeding history. Related to pa_id: 240.	Bereczky et al 2008
173	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		45		42	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 171.	Karimi et al 2008
172	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		50		47	Heterozygous		Not Reported	Prolonged bleeding after labour. Related to pa_id: 171.	Karimi et al 2008
237	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		<3		0.6	Heterozygous	c.1303G>A (p.Gly435Ser)	Severe	Severe umbilical bleeding. Related to pa_id: 238 & 239.	Matsuo et al 2017
238	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		47			Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 237.	Matsuo et al 2017
91	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		0.4			-		Severe	Hemarthrosis, hematoma, gum bleeding, circumcision bleed.	Karimi et al 2012
94	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6		0.7			-		Severe	Menorrhagia, hemarthrosis,.	Karimi et al 2012
127	Point	Missense	c.736T>C	246	206	p.Cys246Arg	Serine Protease	Exon 6	<1		1		Heterozygous	c.61G>A (p.Gly21Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
242	Point	Missense	c.752T>C	251	211	p.Leu251Pro	Serine protease	Exon 7		<1		<1	Heterozygous	c.1382G>A (p.Trp461*)	Severe	Major bleeding symptoms at birth, cerebral micro-bleeds.	Ferrarese et al 2019
249	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		33	Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding, intracranial hemorrhage, musclce hematoma. Died due to severe intracranial hemorrhage and oedema. Related to pa_id: 248.	Epcacan et al 2015
253	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		34	Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, hematuria, easy bruising, gastrointestinal bleeding, intracranial hemorrhage.	Epcacan et al 2015
246	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		27	Homozygous		Severe	Epistaxis, hemarthrosis, hematuria, gastrointestinal bleeding, menorrhagia, muscle hematoma. Related to pa_id: 245 & 247.	Epcacan et al 2015
250	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		19	Homozygous		Severe	Epistaxis, hematuria, easy bruising, gastrointestinal bleeding. Related to pa_id: 251.	Epcacan et al 2015
243	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		35	Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, easy brusing. Related to pa_id: 244.	Epcacan et al 2015
247	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		40	Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding. Related to pa_id: 245 & 246.	Epcacan et al 2015
251	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		25	Homozygous		Severe	Epistaxis, easy bruising. Related to pa_id: 250.	Epcacan et al 2015
244	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		48	Homozygous		Severe	Hemarthrosis, easy bruising, intracranial hemorrhage. Related to pa_id: 243.	Epcacan et al 2015
248	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		25	Homozygous		Severe	Epistaxis, hemarthrosis, easy brusing, muscle hematoma. Related to pa_id: 249.	Epcacan et al 2015
252	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		18	Homozygous		Severe	Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding, menorrhagia.	Epcacan et al 2015
245	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		27	Homozygous		Severe	Epistaxis, hemarthrosis, easy bruising, gastrointestinal bleeding, menorrhagia, muscle hematoma. Related to pa_id: 246 & 247.	Epcacan et al 2015
144	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	1.7				Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
135	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	<1		12		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
132	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	<1		14		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
136	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	<1		5		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
133	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	<1		10		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
137	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	<1		14		Homozygous		Moderate	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
134	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7	<1		15		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
87	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		15	Homozygous		Severe	Epistaxis, gastrointestinal bleeding.	Peyvandi et al 2002
86	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7		<1		10	Homozygous		Severe	Hematomas, hemarthrosis, hematuria, epistaxis.	Peyvandi et al 2002
4	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		1.5		46	Homozygous	c.863T>C (p.Val288Ala)	Not Reported	Echymosis, menorrhagia.	Mota et al 2010
12	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		<1		<1	Homozygous	c.854A>T (p.Lys285Met)	Not Reported	Echymosis, circumcision bleed.	Mota et al 2010
14	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		<1			Homozygous	c.863T>C (p.Val288Ala)	Not Reported	Epistaxis.	Mota et al 2010
1	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		4		7	Heterozygous	c.1A>G (p.Met1Val) AND c.1030C>T (p.Pro344Ser)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
16	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		<1		<1	Heterozygous	c.1061T>G (p.Met354Arg) AND c.-40C>T ( )	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010
19	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		<1			Heterozygous	c.22G>T (p.Val8Phe) AND c.1066C>T (p.Gln356*)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010
18	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		<1			-		Not Reported	Mucosal bleeds.	Mota et al 2010
15	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7		<1			-	c.-40C>T ( ) AND c.-221C>A ( )	Not Reported	Hemetemesis, hemarthrosis, dental extraction bleed, CNS bleed.	Mota et al 2010
306	Deletion	Frameshift	c.813delC	-	-		Serine protease	Exon 7		14		36	Heterozygous	c.1096C>T (p.Arg366Cys)	Not Reported	Postoperative bleeding.	Reddy et al 1989
263	Point	Missense	c.824C>T	275	235	p.Ala275Val	Serine protease	Exon 7		1.4		7.3	Homozygous		Severe	Gum bleeding, nose bleeding, skin ecchymosis, severe menstrual bleeding, post-partum hemorrhage. Related to pa_id: 264.	Sun et al 2016
264	Point	Missense	c.824C>T	275	235	p.Ala275Val	Serine protease	Exon 7		46.2		23.6	Heterozygous		Not Reported	Bleeding history but mild. Related to pa_id: 263.	Sun et al 2016
12	Point	Missense	c.854A>T	285	245	p.Lys285Met	Serine protease	Exon 7		<1		<1	Homozygous	c.792C>T (p.Thr264=)	Not Reported	Echymosis, circumcision bleed.	Mota et al 2010
265	Point	Missense	c.856G>A	286	246	p.Val286Met	Serine protease	Exon 7		<1			Heterozygous	Undefined cDNA - deletion (Exon 6) ( )	Severe	Microcytic anemia, tooth bleeding, hemarthrosis, hematomas. Related to pa_id: 266.	Hainmann et al 2009
14	Point	Missense	c.863T>C	288	248	p.Val288Ala	Serine protease	Exon 7		<1			Homozygous	c.792C>T (p.Thr264=)	Not Reported	Epistaxis.	Mota et al 2010
4	Point	Missense	c.863T>C	288	248	p.Val288Ala	Serine protease	Exon 7		1.5		46	Homozygous	c.792C>T (p.Thr264=)	Not Reported	Echymosis, menorrhagia.	Mota et al 2010
267	Point	Missense	c.863T>C	288	248	p.Val288Ala	Serine protease	Exon 7		<1		46	Homozygous		Not Reported	Ecchymosis, menorrhagia, gastrointestinal bleeds. (Carrier of FV Leiden).	Shetty, Mota & Ghosh 2010
268	Point	Missense	c.863T>C	288	248	p.Val288Ala	Serine protease	Exon 7		<1		50	Homozygous		Not Reported	Epistaxis.	Shetty, Mota & Ghosh 2010
38	Point	Missense	c.865G>C	289	249	p.Gly289Arg	Serine protease	Exon 7		39		49	Heterozygous		Moderate	Hematoma. Related to pa_id: 37 & 39.	Millar et al 2000
39	Point	Missense	c.865G>C	289	249	p.Gly289Arg	Serine protease	Exon 7		45		51	Heterozygous		Not Reported	Epistaxis. Related to pa_id: 37 & 38.	Millar et al 2000
37	Point	Missense	c.865G>C	289	249	p.Gly289Arg	Serine protease	Exon 7		60		53	Heterozygous		Moderate	Uterine bleeding. Related to pa_id: 38 & 39.	Millar et al 2000
269	Point	Missense	c.871C>T	291	251	p.Arg291Trp	Serine protease	Exon 8	30				Homozygous		Asymptomatic	No bleeding history. Related to pa_id: 270.	Girolami et al 2004
270	Point	Missense	c.871C>T	291	251	p.Arg291Trp	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 269.	Girolami et al 2004
358	Insertion	Frameshift	c.882_883dupC	-	-		Serine protease	Exon 8		53		48	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 357 & 360.	Shen et al 2004
360	Insertion	Frameshift	c.882_883dupC	-	-		Serine protease	Exon 8		51		40	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 357, 358 & 359.	Shen et al 2004
357	Insertion	Frameshift	c.882_883dupC	-	-		Serine protease	Exon 8		<1		45.3	Heterozygous	c.1216G>A (p.Gly406Ser)	Severe	Easy bruising, nasal bleeding, recurrent pain and swelling of ankles and knee. Related to pa_id: 358, 359 & 360.	Shen et al 2004
59	Point	Missense	c.910G>A	304	264	p.Glu304Lys	Serine protease	Exon 8				84	Heterozygous		Asymptomatic	Related to pa_id: 56, 57, 58 & 60.	Millar et al 2000
60	Point	Missense	c.910G>A	304	264	p.Glu304Lys	Serine protease	Exon 8		66		64	Heterozygous		Asymptomatic	Related to pa_id: 56, 57, 58 & 59.	Millar et al 2000
56	Point	Missense	c.910G>A	304	264	p.Glu304Lys	Serine protease	Exon 8		68		74	Heterozygous	c.-40C>T ( )	Asymptomatic	Asymptomatic. Related to pa_id: 57, 58, 59 & 60.	Millar et al 2000
139	Point	Missense	c.955T>C	319	279	p.Tyr319His	Serine protease	Exon 8	6		55		Heterozygous	c.71-1G>C ( )	Mild	History of unusual bleeding.	Mitchell et al 2019
278	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		61		114	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-277, 279-284.	Messier et al 1996
271	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		43		101	Heterozygous		Not Reported	Bleeding post-labour. Related to pa_id: 272-284.	Messier et al 1996
282	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		52		71	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-281, 283 & 284.	Messier et al 1996
275	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		64		75	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-274, 276-284.	Messier et al 1996
279	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		66		74	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-278, 280-284.	Messier et al 1996
272	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		60		78	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 273-284.	Messier et al 1996
283	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		38		48	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-282 & 284.	Messier et al 1996
276	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		45		58	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-275, 277-284.	Messier et al 1996
280	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		40		79	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-279, 281-284.	Messier et al 1996
273	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		39		96	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 272, 274-284.	Messier et al 1996
284	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		42		78	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-283.	Messier et al 1996
277	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		31		98	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-276, 278-284.	Messier et al 1996
281	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		60		96	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-280, 282, 283 & 284.	Messier et al 1996
274	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		70		75	Heterozygous		Not Reported	Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 272, 273, 275-284.	Messier et al 1996
66	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8		6			Heterozygous	c.979C>T (p.Arg327Trp)	Not Reported		Millar et al 2000
66	Point	Missense	c.979C>T	327	287	p.Arg327Trp	Serine protease	Exon 8		6			Heterozygous	c.964G>A (p.Asp322Asn)	Not Reported		Millar et al 2000
345	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8					Homozygous		Severe	Epistaxis, hematomas, hemarthrosis, severe anemia.	Hougie, Barrow & Graham 1957
120	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8	<1		37		Heterozygous	c.166G>A (p.Glu56Lys)	Severe	Risk of intracranial bleeding during birth. Mucosal and joint bleeds. Related to pa_id: 119, 121 & 122.	Ingerslev et al 2007
119	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8	<1		66		Heterozygous	c.166G>A (p.Glu56Lys)	Severe	Hemarthrosis of knee joint. Related to pa_id: 120, 121 & 122.	Ingerslev et al 2007
46	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8		41		38	Heterozygous		Not Reported	Related to pa_id:45, 48 & 49.	Millar et al 2000
48	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8		28		34	Heterozygous		Not Reported	Relaed to pa_id: 45, 46, 47 & 49.	Millar et al 2000
49	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8		41		39	Heterozygous		Not Reported	Related to pa_id: 45, 46, 47 & 48.	Millar et al 2000
45	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8		<1		2	Heterozygous	c.1151_1167delACGTGGACCGCAACAG ( p.Tyr384LeufsTer57)	Moderate	Significant hemorrhagic symptoms. Related to pa_id: 46, 47, 48 & 49.	Millar et al 2000
124	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8	<1		5		Heterozygous	c.1151_1167delACGTGGACCGCAACAG ( p.Tyr384LeufsTer57)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
121	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8	47		89		-		Asymptomatic	Asymptomatic. Related to pa_id: 119 & 120.	Ingerslev et al 2007
292	Point	Missense	c.1015G>A	339	299	p.Ala339Thr	Serine protease	Exon 8	56				Heterozygous		Not Reported	Bleeding postpartum, easy bruising. (Combined FX & FVII deficiency). Related to pa_id: 291.	Pavlova et al 2015
291	Point	Missense	c.1015G>A	339	299	p.Ala339Thr	Serine protease	Exon 8	57				Heterozygous		Not Reported	Postoperative bleeding. (Combined FX & FVII deficiency). Related to pa_id: 292.	Pavlova et al 2015
3	Point	Missense	c.1030C>T	344	304	p.Pro344Ser	Serine protease	Exon 8		57		60	Heterozygous		Not Reported	Related to pa_id 1.	Miyata et al 1998
1	Point	Missense	c.1030C>T	344	304	p.Pro344Ser	Serine protease	Exon 8		4		7	Heterozygous	c.1A>G (p.Met1Val) AND c.792C>T (p.Thr264=)	Asymptomatic	No history of bleeding. Related to pa_id: 2 & 3.	Miyata et al 1998
71	Point	Missense	c.1048G>A	350	310	p.Glu350Lys	Serine protease	Exon 8		34			Heterozygous		Not Reported	Related to pa_id: 70.	Millar et al 2000
70	Point	Missense	c.1048G>A	350	310	p.Glu350Lys	Serine protease	Exon 8		8		10	Heterozygous		Not Reported	Related to pa_id: 71.	Millar et al 2000
126	Point	Missense	c.1048G>A	350	310	p.Glu350Lys	Serine protease	Exon 8	<1		77		Heterozygous	c.1348G>A (p.Gly450Arg)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
16	Point	Missense	c.1061T>G	354	314	p.Met354Arg	Serine protease	Exon 8		<1		<1	Heterozygous	c.792C>T (p.Thr264=) AND c.-40C>T ( )	Not Reported	Menorrhagia, mucosal bleeds.	Mota et al 2010
19	Point	Nonsense	c.1066C>T	356	316	p.Gln356*	Serine protease	Exon 8		<1			Heterozygous	c.22G>T (p.Val8Phe) AND c.792C>T (p.Thr264=)	Severe	Hemarthrosis, spontaneous bleeds.	Mota et al 2010
296	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8				80	Homozygous		Not Reported	Post-traumatic hematoma, severe tonsillar bleeding, easy bruising, epistaxis. Related to pa_id: 297 & 298.	De Stefano et al 1988
40	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8		<1		100	Homozygous		Mild	Epistaxis.	Millar et al 2000
295	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8		3			Homozygous		Not Reported		Odom et al 1994
297	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8				80	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 296.	De Stefano et al 1988
298	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8				100	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 296.	De Stefano et al 1988
36	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8				113	Heterozygous		Not Reported	Related to pa_id: 34.	Millar et al 2000
34	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8		<1		64	Heterozygous	c.1087G>A (p.Gly363Ser)	Severe	Haemarthroses. Related to pa_id: 35 & 36.	Millar et al 2000
300	Point	Missense	c.1085G>A	362	322	p.Ser362Asn	Serine protease	Exon 8		32.2	52.83		Heterozygous		Mild	No bleeding history. Related to pa_id: 299, 301-305.	Lu et al 2020
303	Point	Missense	c.1085G>A	362	322	p.Ser362Asn	Serine protease	Exon 8		1.3	46.55		Heterozygous	c.1152C>A (p.Tyr384*)	Severe	Severe gastrointestinal bleeding. Related to pa_id: 299-302, 304 & 305.	Lu et al 2020
304	Point	Missense	c.1085G>A	362	322	p.Ser362Asn	Serine protease	Exon 8		58.5	58.25		Heterozygous		Mild	No bleeding history. Related to pa_id: 299-303 & 305.	Lu et al 2020
299	Point	Missense	c.1085G>A	362	322	p.Ser362Asn	Serine protease	Exon 8		1.7	40.85		Heterozygous	c.1152C>A (p.Tyr384*)	Severe	Subdural hemorrhage after fall, history of moderate bleeding following trauma. Related to pa_id: 300-305.	Lu et al 2020
305	Point	Missense	c.1085G>A	362	322	p.Ser362Asn	Serine protease	Exon 8		65.9	55.55		Heterozygous		Mild	No bleeding history. Related to pa_id: 299-304.	Lu et al 2020
35	Point	Missense	c.1087G>A	363	323	p.Gly363Ser	Serine protease	Exon 8		61		81	Heterozygous		Not Reported	Related to pa_id: 34.	Millar et al 2000
34	Point	Missense	c.1087G>A	363	323	p.Gly363Ser	Serine protease	Exon 8		<1		64	Heterozygous	c.1073C>T (p.Thr358Met)	Severe	Haemarthroses. Related to pa_id: 35 & 36.	Millar et al 2000
93	Point	Missense	c.1087G>A	363	323	p.Gly363Ser	Serine protease	Exon 8		0			-		Severe	Hemarthrosis, hematoma, gastrointestinal bleeding, epistaxis, gum bleeding.	Karimi et al 2012
306	Point	Missense	c.1096C>T	366	326	p.Arg366Cys	Serine protease	Exon 8		14		36	Heterozygous	c.813delC ( )	Not Reported	Postoperative bleeding.	Reddy et al 1989
290	Point	Missense	c.1107G>T	369	329	p.Glu369Asp	Serine protease	Exon 8	25				-	c.1108A>T (p.Lys370*)	Not Reported	(Combined FX & FVII deficiency).	Pavlova et al 2015
290	Point	Nonsense	c.1108A>T	370	330	p.Lys370*	Serine protease	Exon 8	25				-	c.1107G>T (p.Glu369Asp)	Not Reported	(Combined FX & FVII deficiency).	Pavlova et al 2015
311	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		13		80	Homozygous		Not Reported	Related to pa_id: 308, 309, 310, 312 & 313.	Bernardi et al 1994
310	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		15		80	Homozygous		Not Reported	Related to pa_id: 308, 309, 311, 312 & 313.	Bernardi et al 1994
307	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		21			Homozygous		Asymptomatic	No bleeding history.	Bezeaud et al 1995
216	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		23		80	Homozygous		Asymptomatic	No family history of bleeding.	Marchetti et al 1995
308	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		55		90	Heterozygous		Not Reported	Related to pa_id: 310-313.	Bernardi et al 1994
312	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		55		90	Heterozygous		Not Reported	Related to pa_id: 308-311 & 313.	Bernardi et al 1994
309	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		61		100	Heterozygous		Not Reported	Related to pa_id: 310-313.	Bernardi et al 1994
313	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		43		80	Heterozygous		Not Reported	Related to pa_id: 308-312.	Bernardi et al 1994
217	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		54		72	Heterozygous	c.424G>A (p.Glu142Lys)	Asymptomatic	No family history of bleeding. Related to pa_id: 219.	Marchetti et al 1995
218	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		55		106	Heterozygous		Not Reported		Marchetti et al 1995
219	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		68		66	Heterozygous	c.424G>A (p.Glu142Lys)	Asymptomatic	No family history of bleeding. Related to pa_id: 217.	Marchetti et al 1995
316	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		78		87	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 317 & 318.	Vianello et al 2001
317	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		66		82	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 315, 316 & 318.	Vianello et al 2001
314	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8		8.2		40	Heterozygous	c.1258G>A (p.Gly420Arg)	Asymptomatic	No bleeding history. Related to pa_id: 315-318.	Vianello et al 2001
215	Deletion	Frameshift	c.1141delG	-	-		Serine protease	Exon 8		50			Heterozygous		Not Reported	Combined FX and FVII deficiency. Asymptomatic.	Rath et al 2015
319	Point	Missense	c.1145T>C	382	342	p.Val382Ala	Serine protease	Exon 8		73			Heterozygous		Not Reported		Pinotti et al 2004
397	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		7		100	Homozygous		Not Reported	Related to pa_id: 398.	Bernardi et al 1989
327	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		8			Homozygous		Severe	Bleeding history (epistaxis, post-traumatic hemarthrosis and hematoma, ocular and orbital hemorrhage, meleana and hematemesis, gum bleeding, severe bleeding following tooth extraction ). Related to pa_id: 326, 328-341.	Girolami et al 1970
328	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		4			Homozygous		Severe	Bleeding history (epistaxis, bruising, post-traumatic hematomas, bleeding after tooth extraction, severe bleeding after small cuts and wounds). Related to pa_id: 326, 327, 329-341.	Girolami et al 1970
326	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		7			Homozygous		Severe	Bleeding history (epistaxis, gum bleeding, post-traumatic hemarthrosis). Related to pa_id: 327-341.	Girolami et al 1970
320	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		3		90	Homozygous		Moderate		Girolami et al 2018
324	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		4		96	Homozygous		Moderate		Girolami et al 2018
321	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		3.5		100	Homozygous		Moderate		Girolami et al 2018
325	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		5.6		100	Homozygous		Moderate		Girolami et al 2018
322	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		5.1		95	Homozygous		Moderate		Girolami et al 2018
323	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		4.2		105	Homozygous		Moderate		Girolami et al 2018
398	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		45		88	Heterozygous		Not Reported	Related to pa_id: 397.	Bernardi et al 1989
341	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		35			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-340.	Girolami et al 1970
334	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		55			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-333, 335-341.	Girolami et al 1970
338	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		32			Heterozygous		Not Reported	Excessive bleeding after tooth extraction. Related to pa_id: 326-337, 339, 340 & 341.	Girolami et al 1970
331	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		44			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-330, 332-341.	Girolami et al 1970
335	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		40			Heterozygous		Not Reported	Epistaxis in childhood. Related to pa_id: 326-334, 336-341.	Girolami et al 1970
339	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		40			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-338, 340 & 341.	Girolami et al 1970
332	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		36			Heterozygous		Not Reported	Excessive bleeding after tonsillectomy. Related to pa_id: 326-331, 333-341.	Girolami et al 1970
336	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		45			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-335, 337-341.	Girolami et al 1970
329	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		52			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326, 327, 328, 330-341.	Girolami et al 1970
340	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		40			Heterozygous		Not Reported	Excessive bleeding after tooth extraction. Related to pa_id: 326-339 & 341.	Girolami et al 1970
333	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		42			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-332, 334-341.	Girolami et al 1970
337	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		46			Heterozygous		Not Reported	Excessive bleeding after tooth extraction. Related to pa_id: 326-336, 338-341.	Girolami et al 1970
330	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8		44			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 326-329, 331-341.	Girolami et al 1970
289	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8	2				Heterozygous	Undefined cDNA - deletion (Exons 1-6) ( )	Not Reported	Epistaxis gum bleeding, severe postoperative bleeding. (Combined FX & FVII deficiency).	Pavlova et al 2015
47	Deletion	Frameshift	c.1151_1167delACGTGGACCGCAACAG	-	-	p.Tyr384LeufsTer57	Serine protease	Exon 8		37		55	Heterozygous		Not Reported	Related to pa_id: 45, 48 & 49.	Millar et al 2000
45	Deletion	Frameshift	c.1151_1167delACGTGGACCGCAACAG	-	-	p.Tyr384LeufsTer57	Serine protease	Exon 8		<1		2	Heterozygous	c.1012G>A (p.Val338Met)	Moderate	Significant hemorrhagic symptoms. Related to pa_id: 46, 47, 48 & 49.	Millar et al 2000
124	Deletion	Frameshift	c.1151_1167delACGTGGACCGCAACAG	-	-	p.Tyr384LeufsTer57	Serine protease	Exon 8	<1		5		Heterozygous	c.1012G>A (p.Val338Met)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
301	Point	Nonsense	c.1152C>A	384	344	p.Tyr384*	Serine protease	Exon 8		48.3	49.03		Heterozygous		Mild	No bleeding history. Related to pa_id: 299, 300, 302-305.	Lu et al 2020
302	Point	Nonsense	c.1152C>A	384	344	p.Tyr384*	Serine protease	Exon 8		45.6	36.89		Heterozygous		Mild	No bleeding history. Related to pa_id: 299, 300, 301, 303, 304 & 305.	Lu et al 2020
303	Point	Nonsense	c.1152C>A	384	344	p.Tyr384*	Serine protease	Exon 8		1.3	46.55		Heterozygous	c.1085G>A (p.Ser362Asn)	Severe	Severe gastrointestinal bleeding. Related to pa_id: 299-302, 304 & 305.	Lu et al 2020
299	Point	Nonsense	c.1152C>A	384	344	p.Tyr384*	Serine protease	Exon 8		1.7	40.85		Heterozygous	c.1085G>A (p.Ser362Asn)	Severe	Subdural hemorrhage after fall, history of moderate bleeding following trauma. Related to pa_id: 300-305.	Lu et al 2020
26	Point	Missense	c.1159C>T	387	347	p.Arg387Cys	Serine protease	Exon 8		6.2		36.9	Heterozygous	Undefined cDNA (A275T) (p.Ala275Thr)	Severe	Gum bleeds, excessive bleeding following surgery, hemarthrosis.	Liang et al 2013
342	Point	Missense	c.1169G>T	390	350	p.Cys390Phe	Serine protease	Exon 8		4.7		<5	Homozygous		Not Reported	Severe anemia (due to rectal bleeding), intraventricular brain bleed. Related to pa_id: 343 & 344.	Vianello et al 2003
343	Point	Missense	c.1169G>T	390	350	p.Cys390Phe	Serine protease	Exon 8		59		46	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 342.	Vianello et al 2003
344	Point	Missense	c.1169G>T	390	350	p.Cys390Phe	Serine protease	Exon 8		48		45	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 342.	Vianello et al 2003
354	Point	Missense	c.1187T>G	396	356	p.Phe396Cys	Serine protease	Exon 8	51		60		Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 352.	Deam et al 2004
352	Point	Missense	c.1187T>G	396	356	p.Phe396Cys	Serine protease	Exon 8	3		25		Heterozygous	c.140A>G (p.Glu47Gly)	Asymptomatic	No history of bleeding. Related to pa_id: 353 & 354.	Deam et al 2004
145	Point	Missense	c.1210T>C	404	364	p.Cys404Arg	Serine protease	Exon 8	2				Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
147	Point	Missense	c.1210T>C	404	364	p.Cys404Arg	Serine protease	Exon 8	<1				Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
350	Point	Missense	c.1210T>C	404	364	p.Cys404Arg	Serine protease	Exon 8	4				Homozygous		Severe	Extenisve bleeding, hematomas.	Todd et al 2006
44	Point	Missense	c.1210T>C	404	364	p.Cys404Arg	Serine protease	Exon 8		64		52	Heterozygous		Asymptomatic	Related to pa_id: 43.	Millar et al 2000
43	Point	Missense	c.1210T>C	404	364	p.Cys404Arg	Serine protease	Exon 8		48		31	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 44.	Millar et al 2000
32	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		2			Homozygous		Severe	Oral bleeding, menorrhagia, easy bruising.	Borhany et al 2018
346	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8	1			67	Homozygous		Severe	Severe bleeding. Post-traumatic hematoma, bleeding following tooth extraction, menorrhagia, anemia. Related to pa_id: 347, 348 & 349.	Isshiki et al 2005
6	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		<1		100	Homozygous		Severe	Psoas bleed. Related to pa_id: 5.	Mota et al 2010
5	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		<1		90	Homozygous		Severe	Gum bleeds, menorrhagia. Related to pa_id: 6.	Mota et al 2010
347	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8	58			89	Heterozygous		Not Reported	Related to pa_id: 346 & 349.	Isshiki et al 2005
348	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8	53			88	Heterozygous		Not Reported	Related to pa_id: 346 & 349.	Isshiki et al 2005
349	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8	52			80	Heterozygous		Not Reported	Related to pa_id: 346, 347 & 348.	Isshiki et al 2005
63	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		64		115	Heterozygous		Not Reported	Related to pa_id: 61, 62, 64 & 65.	Millar et al 2000
64	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		80			Heterozygous		Not Reported	Related to pa_id: 61, 62, 63 & 65.	Millar et al 2000
61	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		38		94	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 62, 63, 64 & 65.	Millar et al 2000
65	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		53		145	Heterozygous		Not Reported	Related to pa_id: 61, 62, 63 & 64.	Millar et al 2000
62	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		54		102	Heterozygous		Not Reported	Related to pa_id: 61, 63, 64 & 65.	Millar et al 2000
357	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		<1		45.3	Heterozygous	c.882_883dupC ( )	Severe	Easy bruising, nasal bleeding, recurrent pain and swelling of ankles and knee. Related to pa_id: 358, 359 & 360.	Shen et al 2004
359	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8		50		59	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 357 & 360.	Shen et al 2004
131	Point	Nonsense	c.1231C>T	411	371	p.Gln411*	Serine protease	Exon 8	<1		<1		Heterozygous	Undefined cDNA - deletion (Exon 2) ( )	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
140	Point	Missense	c.1247A>T	416	376	p.Gln416Leu	Serine protease	Exon 8	8		48		Heterozygous	c.268T>C (p.Cys90Arg)	Mild	History of unusual bleeding.	Mitchell et al 2019
214	Point	Missense	c.1253A>G	418	378	p.Asp418Gly	Serine protease	Exon 8		35			Heterozygous		Not Reported	Combined FX and FVII deficiency. Asymptomatic.	Rath et al 2015
225	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<1			Homozygous		Severe	Intracranial hemorrhage, gastrointestinal hemorrhage, hematomas.	Herrmann et al 2005
229	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<2			Homozygous		Severe	Intracranial hemorrhage, gingival hemorrhage, easy bruising, hematomas.	Herrmann et al 2005
226	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<1		<1	Homozygous		Severe	Intracranial hemorrhage, epistaxis, hematomas, hematuria.	Herrmann et al 2005
230	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<1		<1	Homozygous		Severe	Gastrointestinal hemorrhage, gingival hemorrhage, easy bruising.	Herrmann et al 2005
227	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<1		<1	Homozygous		Severe	Intracranial hemorrhage, gastrointestinal hemorrhage, easy bruising.	Herrmann et al 2005
228	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<1			Homozygous		Severe	Intracranial hemorrhage.	Herrmann et al 2005
31	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		<2			Heterozygous	c.169T>C (p.Cys57Arg)	Severe	Umbilical cord bleed, hemarthrosis, intracranial hemorrhage, hemoptysis.	Borhany et al 2018
315	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		76		65	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314, 317 & 318.	Vianello et al 2001
318	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		58		43	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 314-317.	Vianello et al 2001
314	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8		8.2		40	Heterozygous	c.1120C>T (p.Ser374Pro)	Asymptomatic	No bleeding history. Related to pa_id: 315-318.	Vianello et al 2001
174	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		<1		18	Homozygous		Not Reported	Hematomas, hematuria. Related to pa_id: 175, 176 & 177.	Karimi et al 2008
175	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		<1		29	Homozygous		Not Reported	Gum bleeding, epistaxis, menorrhagia. Related to pa_id: 174, 176 & 177.	Karimi et al 2008
363	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		<1			Homozygous		Severe	Muscle swelling, gum bleeding. Related to pa_id: 361, 362, 365, 366 & 367.	Pinotti et al 2003
361	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		<1			Homozygous		Severe	Gum, nasal, oral, and vaginal bleeding, bleeding into soft tissue. Related to pa_id: 362-367.	Pinotti et al 2003
362	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		<1			Homozygous		Severe	Umbilical cord bleeding, post circumcision bleeding. Related to pa_id: 361, 363-367.	Pinotti et al 2003
177	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		50		44	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 174, 175 & 176.	Karimi et al 2008
176	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		39		37	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 174, 175 & 177.	Karimi et al 2008
367	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 361, 362, 263, 365 & 366.	Pinotti et al 2003
364	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 361, 362 & 366.	Pinotti et al 2003
365	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 361, 362, 363, 366 & 367.	Pinotti et al 2003
366	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 361-365, 367.	Pinotti et al 2003
99	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		0.3			-		Severe	Menorrhagia, epistaxis, gum bleeding.	Karimi et al 2012
92	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8		0.3			-		Severe	Menorrhagia, hematoma, epistaxis, gum bleeding.	Karimi et al 2012
351	Point	Missense	c.1265C>T	422	382	p.Pro422Leu	Serine protease	Exon 8	<1		10		Homozygous		Not Reported	Umblicial cord bleeding, epistaxis, death by subdural and subarachnoid hemorrhage. Related to pa_id: 355 & 356.	Deam et al 2004
141	Point	Missense	c.1265C>T	422	382	p.Pro422Leu	Serine protease	Exon 8	4				Homozygous		Severe	History of severe bleeding.	Mitchell et al 2019
355	Point	Missense	c.1265C>T	422	382	p.Pro422Leu	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 351.	Deam et al 2004
356	Point	Missense	c.1265C>T	422	382	p.Pro422Leu	Serine protease	Exon 8					Heterozygous		Not Reported	Related to pa_id: 351.	Deam et al 2004
294	Point	Missense	c.1269C>G	423	383	p.His423Gln	Serine protease	Exon 8		6			Heterozygous	c.1381T>C (p.Trp461Arg)	Not Reported		Odom et al 1994
372	Point	Missense	c.1270G>T	424	384	p.Val424Phe	Serine protease	Exon 8		4		30	Homozygous		Asymptomatic	No history of bleeding. Combined FVII and FX deficiency. Related to pa_id: 373, 374 & 375.	Zheng et al 2011
373	Point	Missense	c.1270G>T	424	384	p.Val424Phe	Serine protease	Exon 8		76		100	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 372 & 375.	Zheng et al 2011
374	Point	Missense	c.1270G>T	424	384	p.Val424Phe	Serine protease	Exon 8		54		69	Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 372 & 375.	Zheng et al 2011
375	Point	Missense	c.1270G>T	424	384	p.Val424Phe	Serine protease	Exon 8		47		58	Heterozygous		Asymptomatic	No bleeding history .Related to pa_id: 372, 373 & 374.	Zheng et al 2011
368	Point	Missense	c.1271T>C	424	384	p.Val424Ala	Serine protease	Exon 8		2.4		10.8	Homozygous	Undefined cDNA - deletion ( )	Severe	Epistaxis, menorrhagia, postoperative hemorrhage. Related to pa_id: 369, 370 & 371.	Wang et al 2015
369	Point	Missense	c.1271T>C	424	384	p.Val424Ala	Serine protease	Exon 8		29			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 368 & 370.	Wang et al 2015
370	Point	Missense	c.1271T>C	424	384	p.Val424Ala	Serine protease	Exon 8		44			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 368 & 369.	Wang et al 2015
371	Point	Missense	c.1271T>C	424	384	p.Val424Ala	Serine protease	Exon 8		53			Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 368.	Wang et al 2015
376	Point	Missense	c.1276C>T	426	386	p.Arg426Cys	Serine protease	Exon 8		15		15	Heterozygous	IVS1+1G>A ( )	Not Reported	Minor hematuria, epistaxis, postoperative bleeding.	Vanden Hoek et al 2012
237	Point	Missense	c.1303G>A	435	395	p.Gly435Ser	Serine protease	Exon 8		<3		0.6	Heterozygous	c.730G>A (p.Gly244Arg)	Severe	Severe umbilical bleeding. Related to pa_id: 238 & 239.	Matsuo et al 2017
239	Point	Missense	c.1303G>A	435	395	p.Gly435Ser	Serine protease	Exon 8		60			Heterozygous		Asymptomatic	No history of bleeding. Related to pa_id: 237.	Matsuo et al 2017
206	Point	Missense	c.1303G>A	435	395	p.Gly435Ser	Serine protease	Exon 8		39		30	Heterozygous		Not Reported	Related to pa_id: 203 & 205.	Togashi et al 2020
203	Point	Missense	c.1303G>A	435	395	p.Gly435Ser	Serine protease	Exon 8		<1		5	Heterozygous	c.353G>A (p.Gly118Asp)	Not Reported	Easy bruising, umbilical cord bleeding at birth, subcutaneous hematomas on waist and back. Related to pa_id: 204, 205 & 206.	Togashi et al 2020
255	Point	Missense	c.1332G>A	444	404	p.Ala444Thr	Serine protease	Exon 8	3		110		Homozygous		Not Reported	Menorrhagia, anemia. Related to pa_id: 256 & 257.	Deam et al 2001
256	Point	Missense	c.1332G>A	444	404	p.Ala444Thr	Serine protease	Exon 8	61		92		Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 255.	Deam et al 2001
257	Point	Missense	c.1332G>A	444	404	p.Ala444Thr	Serine protease	Exon 8	54				Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 255.	Deam et al 2001
259	Point	Missense	c.1335C>G	445	405	p.Arg445Gly	Serine protease	Exon 8	58		112		Heterozygous		Not Reported	Menorrhagia. Related to pa_id: 258, 260 261 & 262.	Deam et al 2001
260	Point	Missense	c.1335C>G	445	405	p.Arg445Gly	Serine protease	Exon 8	46		78		Heterozygous		Not Reported	Bleeding after dental extraction. Related to pa_id: 258, 259, 261 & 262.	Deam et al 2001
261	Point	Missense	c.1335C>G	445	405	p.Arg445Gly	Serine protease	Exon 8	35		79		Heterozygous		Not Reported	Menorrhagia. Related to pa_id: 258, 259, 260 & 262.	Deam et al 2001
258	Point	Missense	c.1335C>G	445	405	p.Arg445Gly	Serine protease	Exon 8	51		98		Heterozygous		Not Reported	Menorrhagia, anemia. Related to pa_id: 259-262.	Deam et al 2001
262	Point	Missense	c.1335C>G	445	405	p.Arg445Gly	Serine protease	Exon 8	36		94		Heterozygous		Not Reported	Menorrhagia. Related to pa_id: 258-261.	Deam et al 2001
387	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		16		98	Homozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377-386, 388 & 389.	Simioni et al 2001
378	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		73		125	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 381, 382, 383, 387, 388 & 389.	Simioni et al 2001
383	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		78		134	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 378, 381, 382, 387, 388 & 389.	Simioni et al 2001
388	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		11		62	Heterozygous	c.556delC ( )	Asymptomatic	Asymptomatic. Related to pa_id: 377-387 & 389.	Simioni et al 2001
380	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		76		116	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 384-389.	Simioni et al 2001
384	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		8		55	Heterozygous	c.556delC ( )	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 385-389.	Simioni et al 2001
381	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		82		150	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 378, 382, 383, 387, 388 & 389.	Simioni et al 2001
385	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		11		75	Heterozygous	c.556delC ( )	Asymptomatic	Asymptomatic. Related to pa_id: 377, 379, 380, 384, 386-389.	Simioni et al 2001
377	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		9		72	Heterozygous	c.556delC ( )	Not Reported	Hematomas, epistaxis. (Severe thrombocytopenia due to acute lymphoblastic leukemia could contribute to bleeding symptoms.) Related to pa_id: 378-389.	Simioni et al 2001
382	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8		68		102	Heterozygous		Asymptomatic	Asymptomatic. Related to pa_id: 377, 378, 381, 383, 387, 388 & 389.	Simioni et al 2001
126	Point	Missense	c.1348G>A	450	410	p.Gly450Arg	Serine protease	Exon 8	<1		77		Heterozygous	c.1048G>A (p.Glu350Lys)	Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
390	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8	<1		8		Homozygous		Severe	Severe bleeding (menorrhagia, hematomas, hemathroses). Related to pa_id: 391, 392 & 393.	Deam et al 2003
125	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8	<1		12		Homozygous		Severe	Spontaneous/ hemorrhagic bleeding.	Mitchell et al 2019
9	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8		<1		12.5	Homozygous		Severe	Menorrhagia.	Mota et al 2010
393	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8					Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 390, 391 & 392.	Deam et al 2003
391	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8					Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 390, 392 & 393.	Deam et al 2003
392	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8					Heterozygous		Asymptomatic	No bleeding history. Related to pa_id: 390, 391 & 393.	Deam et al 2003
294	Point	Missense	c.1381T>C	461	421	p.Trp461Arg	Serine protease	Exon 8		6			Heterozygous	c.1269C>G (p.His423Gln)	Not Reported		Odom et al 1994
242	Point	Nonsense	c.1382G>A	461	421	p.Trp461*	Serine protease	Exon 8		<1		<1	Heterozygous	c.752T>C (p.Leu251Pro)	Severe	Major bleeding symptoms at birth, cerebral micro-bleeds.	Ferrarese et al 2019
24	Point	Missense	c.1393T>C	465	425	p.Ser465Pro	Serine protease	Exon 8		1.4		2	Homozygous		Severe	Epistaxis, spontaneous hemarthrosis, gastrointestinal bleeds, easy brusing, gum bleeding.	Liang et al 2013
419	Insertion	Frameshift	c.1402_1403dupA	-	-		Serine protease	Exon 8		<1			Homozygous		Not Reported	Umbilical bleeding, intracranial hemorrhage. Related to pa_id: 420-423.	Rauch et al 2011
420	Insertion	Frameshift	c.1402_1403dupA	-	-		Serine protease	Exon 8		43			Heterozygous		Not Reported	Epistaxis. Related to pa_id: 419, 421, 422 & 423.	Rauch et al 2011
421	Insertion	Frameshift	c.1402_1403dupA	-	-		Serine protease	Exon 8		66			Heterozygous		Not Reported	Related to pa_id: 419, 420 & 423.	Rauch et al 2011
422	Insertion	Frameshift	c.1402_1403dupA	-	-		Serine protease	Exon 8		62			Heterozygous		Not Reported	Menorrhagia, epistaxis, prolonged postoperative bleeding. Related to pa_id: 419 & 420.	Rauch et al 2011
423	Insertion	Frameshift	c.1402_1403dupA	-	-		Serine protease	Exon 8		55			Heterozygous		Not Reported	Menorrhagia. Related to pa_id: 419, 420 & 421.	Rauch et al 2011

Factor X Gene (F10)

Variant Database

FX Variant Database | Go To Advanced Search
Tabular Format | Multiple Variant List

Note: Clicking on the column headers will sort the table alphanumerically

Factor X Gene (F10)

Variant Database

FX Variant Database | Go To Advanced Search Tabular Format | Multiple Variant List Note: Clicking on the column headers will sort the table alphanumerically

FX Variant Database | Go To Advanced Search
Tabular Format | Multiple Variant List

Note: Clicking on the column headers will sort the table alphanumerically