Factor XI Variant Database

Patient ID	Type	Effect	Mutation (cDNA)	Amino Acid HGVS	Amino Acid Legacy	Protein Change	Domain	FXI:C (IU/dl)	FXI:Ag (IU/dl)	Inheritance	Other Variants	Reported Severity	Comments	Reference
212	Point		c.-54G>A	-	-		Promoter Region	67		Heterozygote		Not Reported		Mitchell et al 2006
438	Point		c.-54G>A	-	-		Promoter Region	29		Heterozygote		Not Reported		Saunders et al 2009
534	Point	Missense	Unspecified (C136R)	136	118	p.Cys136Arg	Apple 2	<1		Compound heterozygote	c.403G>T (p.Glu135*)	Not Reported	Asymptomatic	Tiscia et al 2017
505	Deletion		Exons 11-15 deletion	-	-		Serine Protease	<1		Homozygote		Severe	Patient's bleeding Hx is not known.	Zucker et al 2007
154	Deletion		31.5KbDeletion	-	-			32		Heterozygote		Mild	Mild bleeding complications	Mitchell et al 2004
504	Deletion		31.5KbDeletion	-	-			<2		Compound heterozygote	c.438C>A (p.Cys146*)	Severe	Patient has a bleeding Hx.	Duncan et al 2008
478	Deletion		31.5KbDeletion	-	-			<1	1	Compound heterozygote	c.1289C>T (p.Ala430Val)	Severe	Patient also has Alu-mediated whole gene deletion of one allele. She does not have a bleeding Hx and has had three uncomplicated deliveries.	Hill et al 2005
215	Point	Missense	c.3G>T	1	-18	p.Met1Ile	Signal Peptide			Heterozygote		Not Reported		Mitchell et al 2006
373	Point	Missense	c.3G>T	1	-18	p.Met1Ile	Signal Peptide	43		Heterozygote		Not Reported		Mitchell et al 2007
214	Point	Missense	c.3G>T	1	-18	p.Met1Ile	Signal Peptide	<1	<3	Compound heterozygote	c.438C>A (p.Cys146*)	Severe		Mitchell et al 2006
400	Point	Nonsense	c.15T>A	5	-14	p.Tyr5*	Signal Peptide	0.02		Compound heterozygote	c.403G>T (p.Glu135*)	Severe		Neerman-Arbez et al 2007
190	Point	Missense	c.44C>T	15	-4	p.Ser15Leu	Signal Peptide	3	3	Homozygote		Not Reported		Quelin et al 2006
682	Point	Missense	c.55G>A	19	1		Linker	6.4		Compound heterozygote	c.1021G>A (p.Glu341Lys)	Severe	Asymptomatic	Zhang et al 2020
401	Insertion	Frameshift	c.55+6T>G+10insAG	-	-		Linker	1	3	Homozygote		Not Reported	No bleeding symptoms in this patient	Castaman et al 2008
213	Point	Nonsense	c.55G>T	19	1	p.Glu19*	Linker	43		Heterozygote		Not Reported		Mitchell et al 2006
290	Deletion	Frameshift	c.73_86del	-	-		Apple 1	<1	<1	Compound heterozygote		Severe	Gingival bleeding	Zucker et al 2007
510	Deletion	Inframe	c.78_80delGGA	-	-		Apple 1	20	32	Heterozygote		Not Reported	FXI:C/FXI:Ag ratio = 0.625. Post-operative and post-dental extraction bleeding	Spena et al 2009
280	Point	Missense	c.113T>C	38	20	p.Val38Ala	Apple 1		32	Heterozygote		Not Reported	Asymptomatic	Zucker et al 2007
216	Point	Missense	c.122C>A	41	23	p.Pro41Gln	Apple 1	56		Heterozygote		Not Reported		Mitchell et al 2006
199	Point	Missense	c.122C>T	41	23	p.Pro41Leu	Apple 1	30	39	Heterozygote		Not Reported		Quelin et al 2005
402	Point	Missense	c.126C>G	42	24	p.Ser42Arg	Apple 1	29		Heterozygote		Not Reported		Saunders et al 2009
616	Point	Missense	c.126C>G	42	24	p.Ser42Arg	Apple 1	2		Compound heterozygote	c.326-1G>A	Not Reported	Bleeding following injury/surgery and menorrhagia	Shao et al 2016
165	Point	Missense	c.137G>T	46	28	p.Cys46Phe	Apple 1	24	35	Heterozygote		Mild	Menorrhagia	Hill et al 2005
166	Point	Missense	c.137G>T	46	28	p.Cys46Phe	Apple 1	31	41	Heterozygote		Mild	Easy bruising, epistaxis, bleeding gums	Hill et al 2005
167	Point	Missense	c.137G>T	46	28	p.Cys46Phe	Apple 1	26		Heterozygote		Mild	Bleeding postdental extraction	Hill et al 2005
617	Point	Missense	c.137G>T	46	28	p.Cys46Phe	Apple 1	1		Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Easy bruising and menorrhagia	Shao et al 2016
217	Point	Missense	c.141G>C	47	29	p.Gln47His	Apple 1			Heterozygote		Not Reported		Mitchell et al 2006
518	Point	Missense	c.151A>C	51	33	p.Thr51Pro	Apple 1			Heterozygote		Not Reported	Epistaxis	Colakoglu et al 2018
524	Point	Missense	c.151A>C	51	33	p.Thr51Pro	Apple 1			Heterozygote		Not Reported	Epistaxis	Colakoglu et al 2018
563	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	1		Homozygote		Not Reported		Esteban et al 2017
564	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	3		Homozygote		Not Reported		Esteban et al 2017
1	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	<1		Homozygote		Severe	No bleeding after breast surgery	Zivelin et al 2002
575	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	37		Heterozygote		Not Reported		Esteban et al 2017
576	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	37		Heterozygote		Not Reported		Esteban et al 2017
577	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	34		Heterozygote		Not Reported		Esteban et al 2017
578	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	28		Heterozygote		Not Reported		Esteban et al 2017
579	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	42		Heterozygote		Not Reported		Esteban et al 2017
580	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	49		Heterozygote		Not Reported		Esteban et al 2017
581	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	40		Heterozygote		Not Reported		Esteban et al 2017
582	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	68		Heterozygote		Not Reported		Esteban et al 2017
583	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	58		Heterozygote		Not Reported		Esteban et al 2017
584	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	42		Heterozygote		Not Reported		Esteban et al 2017
585	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	25		Heterozygote		Not Reported		Esteban et al 2017
565	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	41		Heterozygote		Not Reported		Esteban et al 2017
566	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	36		Heterozygote		Not Reported		Esteban et al 2017
567	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	30		Heterozygote		Not Reported		Esteban et al 2017
568	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	38		Heterozygote		Not Reported		Esteban et al 2017
569	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	41		Heterozygote		Not Reported		Esteban et al 2017
570	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	42		Heterozygote		Not Reported		Esteban et al 2017
571	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	40		Heterozygote		Not Reported		Esteban et al 2017
572	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	44		Heterozygote		Not Reported		Esteban et al 2017
573	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	44		Heterozygote		Not Reported		Esteban et al 2017
574	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	41		Heterozygote		Not Reported		Esteban et al 2017
7	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	18		Heterozygote		Mild	Mild bleeding after delivery	Zivelin et al 2002
3	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	30		Heterozygote		Mild		Zivelin et al 2002
6	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	36		Heterozygote		Mild	Hematoma following cervical disc surgery	Zivelin et al 2002
98	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	40		Heterozygote		Mild	No bleeding after herniorrhaphy	Zivelin et al 2002
99	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	40		Heterozygote		Mild		Zivelin et al 2002
100	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	45		Heterozygote		Mild		Zivelin et al 2002
101	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	34		Heterozygote		Mild		Zivelin et al 2002
102	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	40		Heterozygote		Mild		Zivelin et al 2002
586	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	2		Compound heterozygote	c.1247G>A (p.Cys416Tyr)	Not Reported		Esteban et al 2017
209	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	<1	<1	Compound heterozygote	c.1199C>T (p.Pro400Leu)	Severe		Quelin et al 2005
2	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	2		Compound heterozygote	c.1531T>C (p.Tyr511His)	Severe	No bleeding after an open fracture	Zivelin et al 2002
97	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1	1		Compound heterozygote	c.1531T>C (p.Tyr511His)	Severe	No bleeding after dental extraction	Zivelin et al 2002
511	Point	Missense	c.168T>G	56	38	p.Cys56Trp	Apple 1	20	46	Heterozygote		Not Reported	FXI:C/FXI:Ag ratio = 0.435. Asymptomatic.	Spena et al 2009
28	Insertion	Frameshift	c.192_193insG	-	-		Apple 1	<1	1	Compound heterozygote	c.316C>T (p.Gln106*)	Severe		Quelin et al 2004
512	Point	Missense	c.215G>C	72	54	p.Arg72Pro	Apple 1	63	77	Heterozygote		Not Reported	FXI:C/FXI:Ag ratio = 0.81. Patient is asymptomatic: four dental extractions, tonsillectomy and one delivery without prophylaxis.	Spena et al 2009
631	Point		c.218+4A>G	-	-		Intronic	<1		Homozygote		Not Reported	Excessive bleeding during hysterectomy	Kawankar et al 2016
632	Point		c.218+4A>G	-	-		Intronic	<1		Homozygote		Not Reported	No bleeding	Kawankar et al 2016
633	Point		c.218+4A>G	-	-		Intronic	<1		Heterozygote		Not Reported	Spontaneous haemarthrosis	Kawankar et al 2016
435	Point		c.218+2T>A	-	-		Intronic	4	2	Compound heterozygote	c.809A>T (p.Lys270Ile)	Not Reported		Castaman et al 2008
219	Point	Missense	c.227G>T	76	58	p.Cys76Phe	Apple 1	<1		Homozygote		Severe		Mitchell et al 2006
147	Point	Missense	c.227G>A	76	58	p.Cys76Tyr	Apple 1	26		Heterozygote		Not Reported	No bleeding tendency	Zivelin et al 1999 (Abstract)
208	Point	Missense	c.259C>A	87	69	p.Pro87Thr	Apple 1	18	13	Compound heterozygote	c.1432G>A (p.Gly478Arg)	Not Reported		Quelin et al 2005
336	Point	Missense	c.290G>C	97	79	p.Gly97Ala	Apple 1	1	3	Compound heterozygote	c.403G>T (p.Glu135*)	Not Reported		Castaman et al 2008
403	Point	Missense	c.296C>A	99	81	p.Ser99Tyr	Apple 1	57		Heterozygote		Not Reported		Saunders et al 2009
439	Point	Missense	c.296C>A	99	81	p.Ser99Tyr	Apple 1	57		Heterozygote		Not Reported		Saunders et al 2009
56	Duplication	Frameshift	c.301_307dupAAGCAAT	-	-		Apple 1	15		Heterozygote		Severe	Non-bleeder	Ventura et al 2000
57	Duplication	Frameshift	c.301_307dupAAGCAAT	-	-		Apple 1	4	48	Heterozygote		Severe	Non-bleeder.	Ventura et al 2000
168	Point	Missense	c.302A>G	101	83	p.Lys101Arg	Apple 1	38		Heterozygote		Mild	Asymptomatic	Hill et al 2005
24	Point	Nonsense	c.316C>T	106	88	p.Gln106*	Linker	<1	0	Homozygote		Severe	No excessive bleeding after ligamentoplasty	Quelin et al 2004
26	Point	Nonsense	c.316C>T	106	88	p.Gln106*	Linker	<1	0	Homozygote		Severe	Patient treated with FXI concentrate before cholecystectomy and showed no excessive bleeding. Also given fresh frozen plasma before delive ry and showed no bleeding. Developed and inhibitor to FXI after exposure to FXI concentrate.	Quelin et al 2004
23	Point	Nonsense	c.316C>T	106	88	p.Gln106*	Linker	60	51	Heterozygote		Mild	No excessive bleeding after appendicectomy, cholecysteco my or delivery.	Quelin et al 2004
25	Point	Nonsense	c.316C>T	106	88	p.Gln106*	Linker	46	41	Heterozygote		Mild	No excessive bleeding after delivery x 3 or after appendicectomy	Quelin et al 2004
28	Point	Nonsense	c.316C>T	106	88	p.Gln106*	Linker	<1	1	Compound heterozygote	c.192_193insG	Severe		Quelin et al 2004
522	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
523	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
604	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	37		Heterozygote		Not Reported		Esteban et al 2017
284	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	26	39	Heterozygote		Not Reported	Haemorrhagic episodes	Guella et al 2008
221	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	45		Heterozygote		Not Reported		Mitchell et al 2006
529	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	32		Heterozygote		Not Reported	Epistaxis	Tiscia et al 2017
530	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	35		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
404	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	2		Compound heterozygote	c.365G>A (p.Gly122Asp)	Not Reported	APTT: 106 s	Duncan et al 2008
220	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	9		Compound heterozygote	c.1021G>A (p.Glu341Lys)	Not Reported		Mitchell et al 2006
222	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	2		Compound heterozygote	c.438C>A (p.Cys146*)	Not Reported		Mitchell et al 2006
528	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker	<1		Compound heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
650	Deletion		c.325+2del124	-	-		Intronic	<1		Compound heterozygote	c.326-1G>A	Not Reported	Bleeding after dental extraction, postoperative bleeding and postpartum hemorrhage (Grade II bleeding)	Lin et al 2020
650	Point		c.326-1G>A	-	-		Intronic	<1		Compound heterozygote	c.325+2del124	Not Reported	Bleeding after dental extraction, postoperative bleeding and postpartum hemorrhage (Grade II bleeding)	Lin et al 2020
659	Point		c.326-1G>A	-	-		Intronic	1	<1	Compound heterozygote	c.1107C>A (p.Tyr369*)	Not Reported	Epistaxis	Lin et al 2020
616	Point		c.326-1G>A	-	-		Intronic	2		Compound heterozygote	c.126C>G (p.Ser42Arg)	Not Reported	Bleeding following injury/surgery and menorrhagia	Shao et al 2016
625	Point		c.326-1G>A	-	-		Intronic	<1		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Epistaxis and easy bruising	Shao et al 2016
200	Point	Missense	c.328T>G	110	92	p.Cys110Gly	Apple 2	47	40	Heterozygote		Not Reported		Quelin et al 2005
201	Point	Missense	c.328T>G	110	92	p.Cys110Gly	Apple 2	21	44	Heterozygote		Not Reported	Epistaxis	Quelin et al 2005
405	Point	Missense	c.359T>C	120	102	p.Met120Thr	Apple 2			Heterozygote		Not Reported		Mitchell et al 2006
406	Point	Missense	c.359T>C	120	102	p.Met120Thr	Apple 2	40		Heterozygote		Not Reported	bleeding post dental extraction	Mitchell et al 2007
12	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	42		Heterozygote		Not Reported	Suffered from epistaxis	Alhaq et al 2000
8	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	35		Heterozygote		Mild		Mitchell et al 2003
117	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	33		Heterozygote		Mild		Mitchell et al 2003
224	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	58	61	Heterozygote		Not Reported		Mitchell et al 2006
225	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	44		Heterozygote		Not Reported		Mitchell et al 2006
440	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	45		Heterozygote		Not Reported		Saunders et al 2009
404	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2	2		Compound heterozygote	c.325G>A (p.Ala109Thr)	Not Reported	APTT: 106 s	Duncan et al 2008
186	Point	Nonsense	c.400C>T	134	116	p.Gln134*	Apple 2	52	43	Heterozygote		Not Reported		Dossenbach-Glaninger & Hopmeier 2006
407	Point	Nonsense	c.400C>T	134	116	p.Gln134*	Apple 2	1	4	Compound heterozygote	c.422C>T (p.Thr141Met)	Severe	Bleeding after knee arthroscopy - minor bleeding not requiring substitutive treatment	Castaman et al 2008
149	Point	Nonsense	c.400C>T	134	116	p.Gln134*	Apple 2	10				Not Reported	Bleeding at hemostatic challenge and/or mild bleeding tendency	Dossenbach-Glaninger et al 2002
466	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	16		Homozygote		Not Reported	Bleeding after circumcision requiring FFP for Rx and prophylaxis. No parent consanguinity. FXI activity of parents: mother 41%, father 47%.	Karimi et al 2009
634	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Homozygote		Not Reported	Bleeding during laryngectomy	Kawankar et al 2016
441	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<1	Homozygote		Severe		Saunders et al 2009
442	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	4	Homozygote		Severe		Saunders et al 2009
443	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Homozygote		Severe		Saunders et al 2009
51	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	1	7	Homozygote		Severe	Excessive bleeding after dental extraction. Required multiple transfusions of fresh frozen plasma.	Ventura et al 2000
52	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	1	14	Homozygote		Severe	Moderate Bleeding. Haematomas after dental extraction.	Ventura et al 2000
53	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	4		Homozygote		Severe	Non-bleeder.	Ventura et al 2000
92	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	1		Homozygote		Severe	Non-bleeder.	Ventura et al 2000
93	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	2		Homozygote		Severe	Non-bleeder.	Ventura et al 2000
526	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2			Heterozygote		Not Reported	Epistaxis	Colakoglu et al 2018
527	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
189	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	18		Heterozygote		Not Reported	Bleeding after delivery.	Quelin et al 2006
445	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	44		heterozygote		Not Reported		Saunders et al 2009
446	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	62		Heterozygote		Not Reported		Saunders et al 2009
183	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	35	33	Heterozygote		Not Reported	Recurrent epistaxis	Solda et al 2005
184	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	32	39	Heterozygote		Not Reported	Recurrent epistaxis	Solda et al 2005
531	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	38		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
532	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	42		Heterozygote		Not Reported	Superficial vein thrombosis	Tiscia et al 2017
533	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	34		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
94	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	47	88	Heterozygote		Mild		Ventura et al 2000
76	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Trivial - few mild but insignificant bleeding episodes.	Asakai et al 1989
77	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	None	Asakai et al 1989
78	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<10	<10	Compound heterozygote	c.1716+1G>A	Severe	Mild - few episodes of mild but significant bleeding	Asakai et al 1989
80	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.	Asakai et al 1989
81	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<10	<10	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.	Asakai et al 1989
335	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2			Compound heterozygote		Not Reported		Castaman et al 2007 (ISTH Abstract)
336	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	1	3	Compound heterozygote	c.290G>C (p.Gly97Ala)	Not Reported		Castaman et al 2008
457	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<0.5	4	Compound heterozygote	c.981C>A (p.Cys327*)	Severe		Castaman et al 2008
17	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<3	<5	Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	History of postoperative and posttraumatic bleeding requiring multiple transfusions of fresh frozen plasma.	Martincic et al 1998
235	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<3	Compound heterozygote	c.751C>T (p.Gln251*)	Severe		Mitchell et al 2006
400	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	0.02		Compound heterozygote	c.15T>A (p.Tyr5*)	Severe		Neerman-Arbez et al 2007
351	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	0.02		Compound heterozygote		Severe	Gastroenteritis with intestinal bleeding	Neerman-Arbez M et al 2007
68	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<10	Compound heterozygote	c.1714_1716+11del	Severe		Peretz et al 1996
383	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Compound heterozygote		Severe	transfusion for bleeding complications and post-operative bruising following ovariectomy	Quelin et al 2009
384	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Compound heterozygote		Severe	Post-operative bleeding following choecystectomy requiring no therapeutic intervention. Ovarian bruising following delivery. Patient sufferes from spontaneous bruising and gingivorrhagia.	Quelin et al 2009
388	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<1	Compound heterozygote		Severe	Post traumatic bleeding following surgery for a maxillary fracture. Bleeding also occurred under fresh frozen plasma (FFP) prophylactic infusion for surgical material removal. Two other uncomplicated surgical procedures were performed in this patient under prophylactic FFP cover.	Quelin et al 2009
419	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Compound heterozygote	c.688T>A (p.Cys230Ser)	Severe	Transfusion for bleeding complications and post-operative bruising following ovariectomy	Quelin et al 2009
420	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Compound heterozygote	c.688T>A (p.Cys230Ser)	Severe	Patient sufferes from spontaneous bruising and gingivorrhagia.Post-operative bleeding following cholecystectomy requiring no therapeutic intervention. Ovarian bruising following obstetric delivery.	Quelin et al 2009
461	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<1	Compound heterozygote	c.1102G>A (p.Gly368Arg)	Severe	Post traumatic bleeding following surgery for a maxillary fracture. Bleeding also occurred under fresh frozen plasma (FFP) prophylactic infusion for surgical material removal. Two other uncomplicated surgical procedures were performed in this patient under prophylactic FFP cover.	Quelin et al 2009
447	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2		3	Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported		Saunders et al 2009
444	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	6		Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported		Saunders et al 2009
534	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1		Compound heterozygote	Unspecified (C136R) (p.Cys136Arg)	Not Reported	Asymptomatic	Tiscia et al 2017
163	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	5	Compound heterozygote		Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
398	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	5	Compound heterozygote		Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
418	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	5	Compound heterozygote	c.644_649delTCGACA (p.Ile215_Asp216del)	Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
272	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2			Compound heterozygote		Not Reported		Zivelin et al 1999 (Abstract 2)
148	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	2		Compound heterozygote	c.1334A>G (p.Tyr445Cys)	Not Reported		Zivelin et al 1999 (Abstract)
279	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<1	Compound heterozygote		Severe	Gingival bleeding	Zucker et al 2007
483	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	<1	Compound heterozygote	c.1334A>G (p.Tyr445Cys)	Severe	Menorrhagia	Zucker et al 2007
67	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	0				Severe	Patient was admitted because of vaginal bleeding during the fourth month of her first pregnancy. There were no prior bleeding episodes. Bleeding stopped after fr esh frozen plasma transfusions.	Hatskelzon et al 1996
105	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	42				Mild		Hatskelzon et al 1996
106	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	30				Mild		Hatskelzon et al 1996
107	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	1				Severe		Hatskelzon et al 1996
108	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	59				Mild		Hatskelzon et al 1996
109	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	22				Mild		Hatskelzon et al 1996
110	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	43				Mild		Hatskelzon et al 1996
160	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	1			Severe	Patient has a thalassemia trait. He has not shown any bleeding symptoms. Recently he successfully underwent varicecele repair under treatment with fresh-frozen v irus-inactivated plasma.	Zadra et al 2004
158	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	0			Mild	Patient had normal menses and no bleeding tendency until the age of 24 years when a bleeding episode occured after a dental extraction. This did not require any transfusions. At the age of 52 she underwent right knee arthroscopy under prophylactic treatment with fresh-frozen-virus inactivated plasma. Recently prohylactic treatment was not given for a further minor orthopedic procedure and no bleeding complications occurred.	Zadra et al 2004
159	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1	0			Severe	Frequently suffered severe epistaxis, resolved by fresh frozen plasma infusion. Excessive bleeding occurred after dental extractions as a consequence of surgery.	Zadra et al 2004
103	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2	<1			c.764G>A (p.Cys255Tyr)	Severe	No bleeding after testicular surgery following plasma treatment	Zivelin et al 2002
151	Point	Nonsense	c.408C>A	136	118	p.Cys136*	Apple 2	<1		Compound heterozygote	c.1199C>T (p.Pro400Leu)	Severe		Bolton-Maggs et al 1999 Abstract
226	Point	Nonsense	c.408C>A	136	118	p.Cys136*	Apple 2	<1		Compound heterozygote	c.1199C>T (p.Pro400Leu)	Severe		Mitchell et al 2006
161	Point	Nonsense	c.408C>A	136	118	p.Cys136*	Apple 2	<1	0			Mild	At the age of 23 he was treated with fresh-frozen plasma infusions after cervical disc surgery; subsequently he was treated with an antifibrinolytic drug after a dental extraction. No bleeding problems occurred agter either procedure.	Zadra et al 2004
162	Point	Nonsense	c.408C>A	136	118	p.Cys136*	Apple 2	<1	0			Mild	Prolonged PTT found prior to tonsillectomy. During childhood and puberty she had recurrent episodes of epistaxis and suffered from diffue ecchymoses.	Zadra et al 2004
513	Point	Missense	c.419G>A	140	122	p.Cys140Tyr	Apple 2	4	3	Homozygote		Not Reported	FXI:C/FXI:Ag ratio = 1.17. Patient is asymptomatic: four dental extractions, one with delayed post-extraction oozing, three surgical procedures without prophylaxis.	Spena et al 2009
191	Point	Missense	c.419G>A	140	122	p.Cys140Tyr	Apple 2	25		Heterozygote		Not Reported	No bleeding or therapy required after tonsillectomy or colectomy.	Quelin et al 2006
192	Point	Missense	c.419G>A	140	122	p.Cys140Tyr	Apple 2	24		Heterozygote		Not Reported	Bleeding after dental extraction. Bleeding after kneecap removal requiring FFP therapy	Quelin et al 2006
193	Point	Missense	c.419G>A	140	122	p.Cys140Tyr	Apple 2	31		Heterozygote		Not Reported	Easy bruising	Quelin et al 2006
295	Point	Missense	c.419G>A	140	122	p.Cys140Tyr	Apple 2			Compound heterozygote		Not Reported		Castaman et al 2007 (ISTH Abstract)
289	Point	Missense	c.422C>T	141	123	p.Thr141Met	Apple 2	1	4	Compound heterozygote		Severe	Bleeding after knee arthroscopy - minor bleeding not requiring substitutive treatment	Castaman et al 2008
407	Point	Missense	c.422C>T	141	123	p.Thr141Met	Apple 2	1	4	Compound heterozygote	c.400C>T (p.Gln134*)	Severe	Bleeding after knee arthroscopy - minor bleeding not requiring substitutive treatment	Castaman et al 2008
637	Point	Missense	c.428A>C	143	125	p.Asp143Ala	Apple 2	49		Heterozygote		Not Reported	Menorrhagia and easy bruising. Excessive bleeding after cesarean section and during thyroidectomy	Jerčić et al 2020
638	Point	Missense	c.428A>C	143	125	p.Asp143Ala	Apple 2	47		Heterozygote		Not Reported	Menorrhagia	Jerčić et al 2020
639	Point	Missense	c.428A>C	143	125	p.Asp143Ala	Apple 2			Heterozygote		Not Reported	Asymptomatic	Jerčić et al 2020
611	Point	Missense	c.434A>G	145	127	p.His145Arg	Apple 2	27	125	Heterozygote		Not Reported	Asymptomatic	Cataman et al 2013
612	Point	Missense	c.434A>G	145	127	p.His145Arg	Apple 2	52	118	Heterozygote		Not Reported	Asymptomatic	Cataman et al 2013
613	Point	Missense	c.434A>G	145	127	p.His145Arg	Apple 2	56	157	Heterozygote		Not Reported	Asymptomatic	Cataman et al 2013
655	Point	Missense	c.434A>G	145	127	p.His145Arg	Apple 2	7		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Easy bruising (Grade II bleeding)	Lin et al 2020
75	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<1		Homozygote		Severe	Long APTT as incidental findingm but previous history of bleeding after dilatation and curettage requiring blood transfusion and return to theater. Tonsillectomy as a child without recorded problems.	Bolton-Maggs et al 2004
70	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<1		Homozygote		Severe	Fall resulting in nasal trauma and prolonged bleeding.	Zacharski & French 1978
72	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	65	64	Heterozygote		Mild	Bleed after dental extraction, tonsilliectomy, sinus surgery and appendectom y.	Bolton-Maggs et al 2004
74	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	34	27	Heterozygote		Mild	Bled after cardiac catheter and after aortic valve replacement.	Bolton-Maggs et al 2004
88	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	38		Heterozygote		Not Reported	Cerebal hemorrhage after fall, but no bleeding after tonsilectomy or dental extraction in his youth.	Bolton-Maggs et al 2004
89	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	45		Heterozygote		Not Reported	Easy bruising in pregnancy, no bleeding after wisdom teeth extraction	Bolton-Maggs et al 2004
90	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	46		Heterozygote		Not Reported	Extensive bruising of face and neck after wisdom teeth extraction aged 21	Bolton-Maggs et al 2004
91	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	16		Heterozygote		Not Reported	Menorrhagia, bruising after hysterectomy	Bolton-Maggs et al 2004
39	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	49	41	Heterozygote		Mild	History of excessive bleeding. Bled for 6 hours after dental extractions at age 17.	Imanaka et al 1995
448	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	61		Heterozygote		Not Reported		Saunders et al 2009
71	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<2		Compound heterozygote		Severe	Patient also has a 1bp insertion in exon 4 on the other allele but this is not reported in detail.	Bolton-Maggs et al 2004
73	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<1	<1	Compound heterozygote		Severe	Misdiagnosed as hemophilia A.	Bolton-Maggs et al 2004
60	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	4		Compound heterozygote	c.809A>T (p.Lys270Ile)	Severe	No active bleeding problems following laporoscopic sterilization.	Dai et al 2004
504	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<2		Compound heterozygote	31.5KbDeletion	Severe	Patient has a bleeding Hx.	Duncan et al 2008
214	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<1	<3	Compound heterozygote	c.3G>T (p.Met1Ile)	Severe		Mitchell et al 2006
222	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	2		Compound heterozygote	c.325G>A (p.Ala109Thr)	Not Reported		Mitchell et al 2006
227	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<1		Compound heterozygote	c.452A>G (p.Tyr151Cys)	Severe		Mitchell et al 2006
240	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	4		Compound heterozygote	c.809A>T (p.Lys270Ile)	Not Reported		Mitchell et al 2006
374	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	<1		Compound heterozygote		Severe	Menorrhagia and 'excess bleeding/bruising tendency'	Mitchell et al 2007
169	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	29	29			Not Reported	Post-Partum Haemorrhage	Hill et al 2005
170	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	44	38			Not Reported	Asymtomatic	Hill et al 2005
171	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2	41				Not Reported	Post Partum Haemorrhage, epistaxis, postoperative bleed requiring transfusion	Hill et al 2005
409	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2	23		Heterozygote		Not Reported		Mitchell et al 2006
535	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2	34		Heterozygote		Not Reported	Epistaxis	Tiscia et al 2017
536	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2	52		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
537	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2	37		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
538	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2	43		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
408	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2	2	2	Compound heterozygote	c.1432G>A (p.Gly478Arg)	Not Reported		Saunders et al 2009
228	Point	Missense	c.452A>G	151	133	p.Tyr151Cys	Apple 2	47		Heterozygote		Not Reported		Mitchell et al 2006
227	Point	Missense	c.452A>G	151	133	p.Tyr151Cys	Apple 2	<1		Compound heterozygote	c.438C>A (p.Cys146*)	Severe		Mitchell et al 2006
43	Point	Missense	c.452A>C	151	133	p.Tyr151Ser	Apple 2	38		Homozygote		Mild		Bolton-Maggs et al 2003 Abstract
229	Point	Missense	c.452A>C	151	133	p.Tyr151Ser	Apple 2	50		Heterozygote		Not Reported		Mitchell et al 2006
410	Point	Missense	c.452A>C	151	133	p.Tyr151Ser	Apple 2	36		Heterozygote		Not Reported	No relevant information	Mitchell et al 2007
172	Point	Missense	c.452A>C	151	133	p.Tyr151Ser	Apple 2	38				Not Reported	Menorrhagia	Hill et al 2005
40	Point	Missense	c.454G>C	152	134	p.Ala152Pro	Apple 2			Homozygote		Not Reported		Bolton-Maggs et al 2003 Abstract
230	Point	Missense	c.454G>C	152	134	p.Ala152Pro	Apple 2	<1		Homozygote		Severe		Mitchell et al 2006
131	Point	Missense	c.484C>T	162	144	p.Arg162Cys	Apple 2	35		Heterozygote		Not Reported	Patient attended hospital for other reasons than bleeding disorders.	Dossenbach-Glaninger and Hopmeier 2
118	Point		c.486-2A>G	-	-		Intronic	3		Homozygote		Severe		Mitchell et al 2003
231	Point		c.486-2A>G	-	-		Intronic	56		Heterozygote		Not Reported		Mitchell et al 2006
197	Point		c.486-2A>G	-	-		Intronic	36	25	Heterozygote		Not Reported		Quelin et al 2006
451	Point	Missense	c.518G>A	173	155	p.Gly173Glu	Apple 2	41		Heterozygote		Not Reported		Alhaq et al 2000
450	Point	Missense	c.518G>A	173	155	p.Gly173Glu	Apple 2	43	64	Heterozygote		Not Reported		O'Connell et al 2005
452	Point	Missense	c.518G>A	173	155	p.Gly173Glu	Apple 2	30		Heterozygote		Not Reported		Saunders et al 2009
135	Point	Missense	c.569T>C	190	172	p.Leu190Pro	Apple 2			Heterozygote		Not Reported		Wu et al 2004 (Abstract)
188	Point		c.595+3A>G	-	-		Intronic	33		Heterozygote		Not Reported	None	Dossenbach-Glaninger & Hopmeier 2006
232	Point		c.595+3A>G	-	-		Intronic	51		Heterozygote		Not Reported		Mitchell et al 2006
546	Point		c.595+3A>G	-	-		Intronic	85		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
104	Point		c.595+3A>G	-	-		Intronic	35		Heterozygote		Mild	No bleeding after adenoidectomy following tranexamic acid	Zivelin et al 2002
417	Point		c.595+3A>G	-	-		Intronic	46	10	Compound heterozygote	c.604A>G (p.Arg202Gly)	Not Reported	No Hx of bleeding episodes.	Guella et al 2008
544	Point		c.595+3A>G	-	-		Intronic	4		Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported	Asymptomatic	Tiscia et al 2017
476	Point	Missense	c.596C>T	199	181	p.Ala199Val	Apple 3	0.07	0.07	Compound heterozygote	c.1288G>A (p.Ala430Thr)	Severe	Menorrhagia, gingivorrhagia and easy bruising. Dental extractions under tranexamic acid cover associated with post-procedural excessive bleeding. APTT 55 sec, Blood Group O.	de Raucourt et al 2008
621	Point		c.596-8T>A	-	-		Apple 3	5		Compound heterozygote	c.1136-4delGTTG	Not Reported	Easy brusing, menorrhagia and bleeding upon tooth extraction	Shao et al 2016
415	Point	Missense	c.599G>A	200	182	p.Cys200Tyr	Apple 3	47		Heterozygote		Not Reported	Patient has bleeding Hx. Median aPTT time: 35 s.	Duncan et al 2008
233	Point	Missense	c.599G>A	200	182	p.Cys200Tyr	Apple 3	34		Heterozygote		Not Reported		Mitchell et al 2006
648	Point	Missense	c.599G>C	200	182	p.Cys200Ser	Apple 3	34		Heterozygote		Not Reported		Lin et al 2020
681	Point	Missense	c.599G>C	200	182	p.Cys200Ser	Apple 3	<1		Compound heterozygote	c.1253G>T (p.Gly418Val)	Severe	Epistaxis	Zhang et al 2020
416	Point	Missense	c.604A>G	202	184	p.Arg202Gly	Apple 3	69	121	Heterozygote		Not Reported	Asymptomatic	Guella et al 2008
417	Point	Missense	c.604A>G	202	184	p.Arg202Gly	Apple 3	46	10	Compound heterozygote	c.595+3A>G	Not Reported	No Hx of bleeding episodes.	Guella et al 2008
196	Point	Missense	c.616T>C	206	188	p.Pro206Ser	Apple 3	30		Heterozygote		Not Reported		Quelin et al 2006
187	Deletion	Inframe	c.644_649delTCGACA	-	-	p.Ile215_Asp216del	Apple 3	39	34	Heterozygote		Not Reported		Dossenbach-Glaninger & Hopmeier 2006
418	Deletion	Inframe	c.644_649delTCGACA	-	-	p.Ile215_Asp216del	Apple 3	<1	5	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Ecchymoses, hematomas and post-traumatic bleeding tendency.	Zadra et al 2004
680	Point	Nonsense	c.682C>T	228	210	p.Arg228*	Apple 3	16		Heterozygote		Not Reported	Asymptomatic	Zhang et al 2020
29	Point	Nonsense	c.682C>T	228	210	p.Arg228*	Apple 3	<1	3	Compound heterozygote	c.1060G>A (p.Gly354Arg)	Severe	No excessive bleeding after dental extractions and u pper limb fracture.	Quelin et al 2004
234	Point	Missense	c.688T>C	230	212	p.Cys230Arg	Apple 3	1		Homozygote		Not Reported		Mitchell et al 2006
41	Point	Missense	c.688T>C	230	212	p.Cys230Arg	Apple 3			Homozygote		Severe		Morishita et al 2003 (Abstract)
542	Point	Missense	c.688T>C	230	212	p.Cys230Arg	Apple 3	34		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
543	Point	Missense	c.688T>C	230	212	p.Cys230Arg	Apple 3	34		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
421	Point	Missense	c.688T>A	230	212	p.Cys230Ser	Apple 3	38		Heterozygote		Not Reported	Bleeding following tooth extraction - requiring no therapeutic intervention. No spontaneous bleeding symptoms.	Quelin et al 2009
422	Point	Missense	c.688T>A	230	212	p.Cys230Ser	Apple 3	35		Heterozygote		Not Reported	Easy bruising	Quelin et al 2009
419	Point	Missense	c.688T>A	230	212	p.Cys230Ser	Apple 3	<1		Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Transfusion for bleeding complications and post-operative bruising following ovariectomy	Quelin et al 2009
420	Point	Missense	c.688T>A	230	212	p.Cys230Ser	Apple 3	<1		Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Patient sufferes from spontaneous bruising and gingivorrhagia.Post-operative bleeding following cholecystectomy requiring no therapeutic intervention. Ovarian bruising following obstetric delivery.	Quelin et al 2009
627	Point	Missense	c.695A>C	232	214	p.His232Pro	Apple 3	<1		Homozygote		Not Reported	No bleeding	Kawankar et al 2016
423	Point	Missense	c.716T>C	239	221	p.Phe239Ser	Apple 3	<3	7	Homozygote		Severe		Okumura et al 2006
424	Point	Missense	c.716T>C	239	221	p.Phe239Ser	Apple 3			Compound heterozygote	c.1556insG	Not Reported		Kuroda et al 2005 (Abstract)
47	Point	Missense	c.716T>C	239	221	p.Phe239Ser	Apple 3			Compound heterozygote	c.1556insG	Severe		Morishita et al 2003 (Abstract)
425	Insertion	Frameshift	c.717insT	-	-		Apple 3	24		Compound heterozygote	c.803G>A (p.Arg268His)	Not Reported	Patient has a bleeding Hx.	Duncan et al 2008
144	Point	Missense	c.728C>T	243	225	p.Ser243Phe	Apple 3	22	22	Heterozygote		Not Reported	History of knee hemarthrosis and frequent epistaxis.	Kravtsov et al 2005
145	Point	Missense	c.728C>T	243	225	p.Ser243Phe	Apple 3	25	25	Heterozygote		Not Reported		Kravtsov et al 2005
426	Point	Nonsense	c.730C>T	244	226	p.Gln244*	Apple 3	<3		Heterozygote		Severe		Okumura et al 2006
649	Point	Nonsense	c.730C>T	244	226	p.Gln244*	Apple 3	<1		Compound heterozygote	c.1107C>A (p.Tyr369*)	Not Reported	Bleeding after dental extraction and hematuria (Grade II bleeding)	Lin et al 2020
427	Point	Nonsense	c.730C>T	244	226	p.Gln244*	Apple 3	<3		Compound heterozygote	c.1253G>T (p.Gly418Val)	Severe		Okumura et al 2006
661	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Liu et al 2019
662	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Liu et al 2019
663	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Liu et al 2019
642	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	62	64.1	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
644	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	40	48.3	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
645	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	38	44.8	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
133	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Wu et al 2004 (Abstract)
669	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Xia et al 2020
670	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Xia et al 2020
671	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Heterozygote		Not Reported		Xia et al 2020
652	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	<1		Compound heterozygote	c.1107C>A (p.Tyr369*)	Not Reported	Gastrointestinal bleeding (Grade III bleeding)	Lin et al 2020
660	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Compound heterozygote	c.1556G>C (p.Trp519Ser)	Not Reported	Reduced FXI activity and antigen levels to 6% and 10.7% of normal, respectively.	Liu et al 2019
617	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	1		Compound heterozygote	c.137G>T (p.Cys46Phe)	Not Reported	Easy bruising and menorrhagia	Shao et al 2016
624	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	<1		Compound heterozygote		Not Reported	Epistaxis - also carries A91fsX9 mutation	Shao et al 2016
640	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	2	5.4	Compound heterozygote	c.938G>T (p.Ser313Ile)	Not Reported	Heavy menorrhagia and delayed wound healing	Wang et al 2019
132	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Compound heterozygote	c.1202G>A (p.Trp401*)	Not Reported		Wu et al 2003 (Abstract)
667	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Compound heterozygote	c.938G>T (p.Ser313Ile)	Not Reported	Reduced FXI activity and antigen levels to 10% and 15% of normal, respectively.	Xia et al 2020
668	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3			Compound heterozygote	c.938G>T (p.Ser313Ile)	Not Reported	Reduced FXI activity and antigen levels to 2% and 11.5% of normal, respectively.	Xia et al 2020
679	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3	<1		Compound heterozygote	c.841C>T (p.Gln281*)	Severe	Bruising	Zhang et al 2020
61	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	2	Undetectable	Homozygote		Severe	Presented with cerebral thromboembolic event but no history of bleeding.	Alhaq et al 1999
128	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	3		Homozygote		Severe	No history of Bleeding	Alhaq et al 1999
129	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	6		Homozygote		Severe	No history of Bleeding	Alhaq et al 1999
124	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	40		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
125	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	36		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
126	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	50		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
127	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	31		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
130	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3	53		Heterozygote		Mild	No history of Bleeding	Alhaq et al 1999
235	Point	Nonsense	c.751C>T	251	233	p.Gln251*	Apple 3	<1	<3	Compound heterozygote	c.403G>T (p.Glu135*)	Severe		Mitchell et al 2006
428	Point	Missense	c.755G>A	252	234	p.Arg252Lys	Apple 3	41		Heterozygote		Not Reported	aPTT median = 39 seconds	Papagrigoriou et al 2006
236	Point	Missense	c.756A>T	252	234	p.Arg252Ser	Apple 3	42		Heterozygote		Not Reported		Mitchell et al 2006
237	Point	Missense	c.756A>T	252	234	p.Arg252Ser	Apple 3	38		Heterozygote		Not Reported		Mitchell et al 2006
4	Point	Missense	c.764G>A	255	237	p.Cys255Tyr	Apple 3	<1		Compound heterozygote		Severe	No bleeding after tonsillectomy following pl asma treatment	Zivelin et al 2002
103	Point	Missense	c.764G>A	255	237	p.Cys255Tyr	Apple 3	<1			c.403G>T (p.Glu135*)	Severe	No bleeding after testicular surgery following plasma treatment	Zivelin et al 2002
506	Deletion	Frameshift	c.769delC	-	-		Apple 3	3		Compound heterozygote		Not Reported	Second mutation is a mismatch mutation(g.-1296G>A) in the promoter region of the other allele. The patient presented with an aneurysmal subarachnoid haemorrhage (large aneurysm of the anterior communicating artery with broad neck and dimensions 11.312.4mm and a small aneurysm of the pericallosal artery) at which time FXI deficiency was diagnosed. Four months following discharge (with clinical improvement) the patient suffered a second episode of SAH due to aneurysm revascularisation, which eventually proved fatal.	Vasileiadis et al 2009
204	Point	Missense	c.783G>C	261	243	p.Glu261Asp	Apple 3	30	28	Heterozygote		Not Reported	Easy Bruising	Quelin et al 2005
205	Point	Missense	c.783G>C	261	243	p.Glu261Asp	Apple 3	30		Compound heterozygote	c.1613C>T (p.Pro538Leu)	Not Reported		Quelin et al 2005
173	Point	Missense	c.788G>A	263	245	p.Gly263Glu	Apple 3	31	26	Heterozygote		Mild	Easy bruising, has had thrombosis, no bleeding history	Hill et al 2005
174	Point	Missense	c.788G>A	263	245	p.Gly263Glu	Apple 3	61		Heterozygote		Mild	Asymptomatic	Hill et al 2005
16	Point	Missense	c.797G>A	266	248	p.Ser266Asn	Apple 3	67	80	Heterozygote		Not Reported	History of abnormal hemostastis with bleeding after dental procedures, frequent epistaxis and heavy bleeding after childbirth.	Martincic et al 1998
15	Point	Missense	c.797G>A	266	248	p.Ser266Asn	Apple 3	42	70	Compound heterozygote		Mild	History of excessive bleeding after dental procedures and frequent epistaxis. Required plasma transfusions.	Martincic et al 1998
45	Point	Missense	c.802C>T	268	250	p.Arg268Cys	Apple 3			Homozygote		Severe		Bolton-Maggs et al 2003 Abstract
238	Point	Missense	c.802C>T	268	250	p.Arg268Cys	Apple 3	8		Homozygote		Not Reported		Mitchell et al 2006
44	Point	Missense	c.802C>T	268	250	p.Arg268Cys	Apple 3			Heterozygote		Not Reported		Bolton-Maggs et al 2003 Abstract
603	Point	Missense	c.802C>T	268	250	p.Arg268Cys	Apple 3	35		Heterozygote		Not Reported		Esteban et al 2017
239	Point	Missense	c.802C>T	268	250	p.Arg268Cys	Apple 3	53		Heterozygote		Not Reported		Mitchell et al 2006
356	Point	Missense	c.803G>A	268	250	p.Arg268His	Apple 3	24		Compound heterozygote		Not Reported	Patient has a bleeding Hx.	Duncan et al 2008
425	Point	Missense	c.803G>A	268	250	p.Arg268His	Apple 3	24		Compound heterozygote	c.717insT	Not Reported	Patient has a bleeding Hx.	Duncan et al 2008
435	Point	Missense	c.809A>T	270	252	p.Lys270Ile	Apple 3	4	2	Compound heterozygote	c.218+2T>A	Not Reported		Castaman et al 2008
60	Point	Missense	c.809A>T	270	252	p.Lys270Ile	Apple 3	4		Compound heterozygote	c.438C>A (p.Cys146*)	Severe	No active bleeding problems following laporoscopic sterilization.	Dai et al 2004
436	Point	Missense	c.809A>T	270	252	p.Lys270Ile	Apple 3	52		Compound heterozygote	c.976C>T (p.Arg326Cys)	Not Reported	Median aPTT time: 46 seconds.	Duncan et al 2008
240	Point	Missense	c.809A>T	270	252	p.Lys270Ile	Apple 3	4		Compound heterozygote	c.438C>A (p.Cys146*)	Not Reported		Mitchell et al 2006
507	Point	Missense	c.829G>A	277	259	p.Gly277Ser	Apple 3	44	34	Heterozygote		Not Reported		Unpublished Data
651	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	1		Homozygote		Not Reported	Easy bruising, bleeding after dental extraction and postoperative bleeding (Grade II bleeding)	Lin et al 2020
656	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	<1		Homozygote		Not Reported	Bleeding after dental extraction (Grade II bleeding)	Lin et al 2020
615	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	1	<1	Homozygote		Not Reported	Peptic ulcer with bleeding	Lin et al 2020
65	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	<1	Undetectable	Homozygote		Severe	No history of excessive bleeding and patient had given birth without bleeding complications.	Sato et al 2000
122	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	<1		Homozygote		Severe		Sato et al 2000
687	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	6		Homozygote		Severe	Bruising	Zhang et al 2020
62	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	45		Heterozygote		Mild	No history of abnormal bleeding.	Au et al 2003
115	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	49		Heterozygote		Mild		Au et al 2003
119	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	55		Heterozygote		Mild		Sato et al 2000
120	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	40		Heterozygote		Mild		Sato et al 2000
121	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	61		Heterozygote		Mild		Sato et al 2000
123	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	40		Heterozygote		Mild		Sato et al 2000
64	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	1		Compound heterozygote	c.1107C>A (p.Tyr369*)	Severe	Patient initially seen with prolonged bleeding after tooth extraction but there was no previous history of menorrhagia or abnormal bleeding.	Au et al 2003
150	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	<1	<1	Compound heterozygote		Severe	Spontaneous bleeding and/or heavy bleeding	Kawaguchi et al 2000
655	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	7		Compound heterozygote	c.434A>G (p.His145Arg)	Not Reported	Easy bruising (Grade II bleeding)	Lin et al 2020
657	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	2	<1	Compound heterozygote	c.1107C>A (p.Tyr369*)	Not Reported	No bleeding	Lin et al 2020
618	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	3		Compound heterozygote	c.1107C>T (p.Tyr369=)	Not Reported	Bleeding upon tooth extraction	Shao et al 2016
619	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	4		Compound heterozygote	c.1778C>T (p.Thr593Met)	Not Reported	Bleeding following injury/surgery and postpartum hemorrhage	Shao et al 2016
625	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	<1		Compound heterozygote	c.326-1G>A	Not Reported	Epistaxis and easy bruising	Shao et al 2016
626	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	2		Compound heterozygote	c.1107C>T (p.Tyr369=)	Not Reported	Bleeding following injury/surgery	Shao et al 2016
399	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	260	3	Compound heterozygote		Not Reported		Wang et al 2009
679	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3	<1		Compound heterozygote	c.738G>A (p.Trp246*)	Severe	Bruising	Zhang et al 2020
141	Point	Missense	c.865G>C	289	271	p.Val289Leu	Apple 3	2		Compound heterozygote	c.1432G>A (p.Gly478Arg)	Not Reported	Post op bleeding only	Jayandharan et al 2005
79	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	<10	<10	Homozygote		Severe	Mild - few episodes of mild but significant bleeding	Asakai et al 1989
454	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	7		Homozygote		Not Reported		Saunders et al 2009
112	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	76		Heterozygote		Mild	Mild bleeding during and after abdominal surgery	Dossenbach-Glaninger et al 2001
113	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	87		Heterozygote		Mild	No evidence of abnormal bleeding	Dossenbach-Glaninger et al 2001
453	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	35		Heterozygote		Not Reported		Saunders et al 2009
455	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	48		Heterozygote		Not Reported		Saunders et al 2009
545	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	51		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
549	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	85		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
76	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	<10	<10	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Trivial - few mild but insignificant bleeding episodes.	Asakai et al 1989
77	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	<10	<10	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	None	Asakai et al 1989
80	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	<10	<10	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.	Asakai et al 1989
81	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	<10	<10	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Moderate - recurrent episodes of moderately severe bleeding, sometimes requiring a blood transfusion.	Asakai et al 1989
283	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	2	6	Compound heterozygote		Not Reported	Menorrhagia. Minor bleeding not requiring substitutive treatment	Castaman et al 2008
477	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	2	2	Compound heterozygote	c.1288G>A (p.Ala430Thr)	Not Reported	Epistaxis, post-operative bleeding and bleeding following tooth extraction. Patient also suffers from menorrhagia and experienced postpartum bleeding.	Castaman et al 2008
18	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	4		Compound heterozygote	c.1026dupG	Severe	Mild bleeding after dental surgery	Dossenbach-Glaninger et al 2001
17	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	<3	<5	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	History of postoperative and posttraumatic bleeding requiring multiple transfusions of fresh frozen plasma.	Martincic et al 1998
490	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	1	<1	Compound heterozygote	c.1489C>T (p.Arg497*)	Not Reported	No bleeding following dental extraction. Bleeding following delivery - no therapy. Easy bruising.	Quelin et al 2009
447	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4		3	Compound heterozygote	c.403G>T (p.Glu135*)	Not Reported		Saunders et al 2009
444	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	6		Compound heterozygote	c.403G>T (p.Glu135*)	Not Reported		Saunders et al 2009
544	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	4		Compound heterozygote	c.595+3A>G	Not Reported	Asymptomatic	Tiscia et al 2017
547	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	6		Compound heterozygote	c.1556G>A (p.Trp519*)	Not Reported	Surgery-related bleeding	Tiscia et al 2017
459	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4	9	9	Compound heterozygote	c.1021G>A (p.Glu341Lys)	Not Reported	Epistaxis	Zucker et al 2007
5	Deletion	Frameshift	c.907delG	-	-		Apple 4	48		Heterozygote		Mild	No bleeding after apendectomy. Since the patient was of mixed Basque and non-Basque origin and other family members were unavailable for examination, it is uncertain whether the mutation originated in the Basque side of the family.	Zivelin et al 2002
175	Deletion	Frameshift	c.918delG	-	-		Apple 4	36				Not Reported	Menorrhagia, easy bruising, bleed post dental extraction	Hill et al 2005
429	Duplication	Frameshift	c.933_951dupAAAAAGTCACGAGGCCTG	-	-		Apple 4	66		Heterozygote		Not Reported		Saunders et al 2009
641	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4	41	47.4	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
643	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4	58	63.1	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
646	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4	57	59.8	Heterozygote		Not Reported	No bleeding disorders	Wang et al 2019
672	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4			Heterozygote		Not Reported		Xia et al 2020
673	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4			Heterozygote		Not Reported		Xia et al 2020
640	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4	2	5.4	Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Heavy menorrhagia and delayed wound healing	Wang et al 2019
667	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4			Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Reduced FXI activity and antigen levels to 10% and 15% of normal, respectively.	Xia et al 2020
668	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4			Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Reduced FXI activity and antigen levels to 2% and 11.5% of normal, respectively.	Xia et al 2020
430	Point	Nonsense	c.943G>T	315	297	p.Glu315*	Apple 4	4		Compound heterozygote	c.943G>A (p.Glu315Lys)	Not Reported	No bleeding tendency	Hopmeier et al 2004
152	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	40		Heterozygote		Not Reported	No bleeding tendency	Mathonet et al 1999 (Abstract)
210	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	40	52	Heterozygote		Not Reported		Quelin et al 2005
194	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	38	39	Heterozygote		Not Reported	Epistaxis	Quelin et al 2006
195	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	40		Heterozygote		Not Reported		Quelin et al 2006
553	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	39		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
554	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	29		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
430	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	4		Compound heterozygote	c.943G>T (p.Glu315*)	Not Reported	No bleeding tendency	Hopmeier et al 2004
551	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	7		Compound heterozygote	c.1556G>A (p.Trp519*)	Not Reported	Vaginal bleeding during pregnancy	Tiscia et al 2017
561	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	34		Compound heterozygote	c.1682G>A (p.Ala561Asp)	Not Reported	Asymptomatic	Tiscia et al 2017
562	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	36		Compound heterozygote	c.1682G>A (p.Ala561Asp)	Not Reported	Asymptomatic	Tiscia et al 2017
495	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4	<2	<5	Compound heterozygote	c.1634G>A (p.Cys545Tyr)	Severe	Bleeding after tooth extraction.	Zucker et al 2007
431	Deletion	Frameshift	c.961_962delTG	-	-	p.Cys321HisfsTer37	Apple 4	<1	<1	Homozygote		Severe		Quelin et al 2006
241	Deletion	Frameshift	c.961_962delTG	-	-	p.Cys321HisfsTer37	Apple 4	57		Heterozygote		Not Reported		Mitchell et al 2006
211	Point	Missense	c.965C>T	322	304	p.Thr322Ile	Apple 4	11	26	Homozygote		Not Reported	Epistaxis, Menorrhagia and bleeding after tonsillectomay, dental extraction and d elivery	Quelin et al 2005
602	Point	Missense	c.965C>T	322	304	p.Thr322Ile	Apple 4	47		Heterozygote		Not Reported		Esteban et al 2017
242	Point	Missense	c.965C>T	322	304	p.Thr322Ile	Apple 4	51		Heterozygote		Not Reported		Mitchell et al 2006
434	Point	Missense	c.973G>T	325	307	p.Val325Phe	Apple 4	50		Heterozygote		Not Reported		Saunders et al 2009
432	Point	Missense	c.973G>T	325	307	p.Val325Phe	Apple 4	55		Heterozygote		Not Reported		Saunders et al 2009
433	Point	Missense	c.973G>T	325	307	p.Val325Phe	Apple 4	52		Heterozygote		Not Reported		Saunders et al 2009
19	Point	Missense	c.976C>T	326	308	p.Arg326Cys	Apple 4	41	33	Heterozygote		Mild	History of easy bruising.	Mitchell et al 1999
243	Point	Missense	c.976C>T	326	308	p.Arg326Cys	Apple 4	43	33	Heterozygote		Not Reported		Mitchell et al 2006
437	Point	Missense	c.976C>T	326	308	p.Arg326Cys	Apple 4	36		Heterozygote		Not Reported		Saunders et al 2009
436	Point	Missense	c.976C>T	326	308	p.Arg326Cys	Apple 4	52		Compound heterozygote	c.809A>T (p.Lys270Ile)	Not Reported	Median aPTT time: 46 seconds.	Duncan et al 2008
457	Point	Nonsense	c.981C>A	327	309	p.Cys327*	Apple 4	<0.5	4	Compound heterozygote	c.403G>T (p.Glu135*)	Severe		Castaman et al 2008
458	Point	Missense	c.992C>T	331	313	p.Thr331Ile	Apple 4	<1		Homozygote		Severe	Moderate haemorrhage following oral surgery. Consanguineous parents.	Fard-Esfahani et al 2008
134	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4			Heterozygote		Not Reported		Wu et al 2004 (Abstract)
220	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4	9		Compound heterozygote	c.325G>A (p.Ala109Thr)	Not Reported		Mitchell et al 2006
623	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4	3		Compound heterozygote	c.1253G>T (p.Gly418Val)	Not Reported	Easy bruising and bleeding following injury/surgery	Shao et al 2016
682	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4	6.4		Compound heterozygote	c.55G>A	Severe	Asymptomatic	Zhang et al 2020
684	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4	<1		Compound heterozygote	c.1556G>A (p.Trp519*)	Severe	Intra-articular bleeding	Zhang et al 2020
459	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4	9	9	Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported	Epistaxis	Zucker et al 2007
54	Point	Silent	c.1026G>T	342	324	p.Gly342=	Apple 4	1	5	Compound heterozygote	c.1608G>C (p.Lys536Asn)	Severe	Excessive bleeding after dental extraction. Menorrhagia.	Ventura et al 2000
55	Point	Silent	c.1026G>T	342	324	p.Gly342=	Apple 4	1	12	Compound heterozygote	c.1608G>C (p.Lys536Asn)	Severe	Non-bleeder.	Ventura et al 2000
470	Point	Silent	c.1026G>T	342	324	p.Gly342=	Apple 4	2		Compound heterozygote	c.1247G>A (p.Cys416Tyr)	Not Reported	No bleeding Hx.	Zucker et al 2007
111	Duplication	Frameshift	c.1026dupG	-	-		Apple 4	56		Heterozygote		Mild	No evidence of abnormal bleeding	Dossenbach-Glaninger et al 2001
18	Duplication	Frameshift	c.1026dupG	-	-		Apple 4	4		Compound heterozygote	c.901T>C (p.Phe301Leu)	Severe	Mild bleeding after dental surgery	Dossenbach-Glaninger et al 2001
456	Point		c.1028+5G>T	-	-		Apple 4	45		Heterozygote		Not Reported		Saunders et al 2009
658	Point	Nonsense	c.1033A>T	345	327	p.Lys345*	Apple 4	1	<1	Compound heterozygote		Not Reported	No bleeding	Lin et al 2020
381	Point	Missense	c.1060G>A	354	336	p.Gly354Arg	Apple 4			Compound heterozygote		Not Reported		Castaman et al 2005
29	Point	Missense	c.1060G>A	354	336	p.Gly354Arg	Apple 4	<1	3	Compound heterozygote	c.682C>T (p.Arg228*)	Severe	No excessive bleeding after dental extractions and u pper limb fracture.	Quelin et al 2004
58	Deletion	Frameshift	c.1072delA	-	-		Apple 4	1	15	Homozygote		Severe	Non-bleeder.	Ventura et al 2000
471	Deletion	Frameshift	c.1072delA	-	-		Apple 4	2		Compound heterozygote	c.1247G>A (p.Cys416Tyr)	Not Reported	No Bleeding Hx.	Zucker et al 2007
244	Point	Missense	c.1077A>G	359	341	p.Ile359Met	Apple 4			Heterozygote		Not Reported		Mitchell et al 2006
460	Point	Missense	c.1079T>C	360	342	p.Leu360Pro	Apple 4	<1		Homozygote		Severe	Moderate haemorrhage following abdominal surgery	Fard-Esfahani et al 2008
246	Point	Missense	c.1084G>A	362	344	p.Gly362Arg	Apple 4	38		Heterozygote		Not Reported		Mitchell et al 2006
461	Point	Missense	c.1102G>A	368	350	p.Gly368Arg	Apple 4	<1	<1	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Post traumatic bleeding following surgery for a maxillary fracture. Bleeding also occurred under fresh frozen plasma (FFP) prophylactic infusion for surgical material removal. Two other uncomplicated surgical procedures were performed in this patient under prophylactic FFP cover.	Quelin et al 2009
675	Point	Missense	c.1103G>A	368	350	p.Gly368Glu	Apple 4			Heterozygote		Not Reported		Yang et al 2021
676	Point	Missense	c.1103G>A	368	350	p.Gly368Glu	Apple 4			Heterozygote		Not Reported		Yang et al 2021
620	Point	Missense	c.1103G>A	368	350	p.Gly368Glu	Apple 4	1		Compound heterozygote	c.1136-4delGTTG	Not Reported	Epistaxis	Shao et al 2016
674	Point	Missense	c.1103G>A	368	350	p.Gly368Glu	Apple 4			Compound heterozygote	c.1556G>A (p.Trp519*)	Not Reported	Reduced FXI activity and antigen levels to 1% and 1.3% of normal, respectively.	Yang et al 2021
31	Point	Missense	c.1103G>C	368	350	p.Gly368Ala	Apple 4	1	20	Homozygote	c.1797T>A (p.Cys599*)	Severe	Patient suffered epistaxis. Also bled after dental extraction without treatment, treated after procedure with fresh frozen plasma. Showed brusing after delivery without treatment.	Quelin et al 2004
143	Point	Missense	c.1106A>C	369	351	p.Tyr369Ser	Apple 4	<1		Homozygote		Severe	None	Jayandharan et al 2005
653	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	<1		Homozygote		Not Reported	Asymptomatic	Lin et al 2020
689	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	1.1		Homozygote		Severe	Asymptomatic	Zhang et al 2020
63	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	53		Heterozygote		Mild	No history of abnormal bleeding.	Au et al 2003
116	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	59		Heterozygote		Mild		Au et al 2003
64	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	1		Compound heterozygote	c.841C>T (p.Gln281*)	Severe	Patient initially seen with prolonged bleeding after tooth extraction but there was no previous history of menorrhagia or abnormal bleeding.	Au et al 2003
649	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	<1		Compound heterozygote	c.730C>T (p.Gln244*)	Not Reported	Bleeding after dental extraction and hematuria (Grade II bleeding)	Lin et al 2020
652	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	<1		Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Gastrointestinal bleeding (Grade III bleeding)	Lin et al 2020
657	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	2	<1	Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	No bleeding	Lin et al 2020
659	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4	1	<1	Compound heterozygote	c.326-1G>A	Not Reported	Epistaxis	Lin et al 2020
647	Point	Silent	c.1107C>T	369	351	p.Tyr369=	Apple 4	1	4.1	Compound heterozygote	c.1322delT	Not Reported	Easy bruising, menorrhagia and postpartum hemorrhage (Grade II bleeding)	Lin et al 2020
618	Point	Silent	c.1107C>T	369	351	p.Tyr369=	Apple 4	3		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Bleeding upon tooth extraction	Shao et al 2016
626	Point	Silent	c.1107C>T	369	351	p.Tyr369=	Apple 4	2		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Bleeding following injury/surgery	Shao et al 2016
247	Point	Missense	c.1118T>C	373	355	p.Leu373Ser	Apple 4	67		Heterozygote		Not Reported		Mitchell et al 2006
248	Point	Missense	c.1120T>C	374	356	p.Cys374Arg	Apple 4	40		Heterozygote		Not Reported		Mitchell et al 2006
249	Point	Missense	c.1135+5G>A	378	360		Intronic	73		Heterozygote		Not Reported		Mitchell et al 2006
153	Point		c.1135+1G>A	-	-		Intronic	<1		Heterozygote		Severe	Bleeding at hemostatic challenge and/or mild bleeding tendency	Hayashi et al 1997 Abstract
463	Point		c.1135+1G>A	-	-		Intronic	50		Heterozygote		Not Reported		Okumura et al 2006
155	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	<10	<50	Homozygote		Severe		Xie et al 2005
156	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	<10	<50	Homozygote		Severe		Xie et al 2005
268	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	<10	<50	Homozygote		Severe		Xie et al 2005
686	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	<1		Homozygote		Severe	Asymptomatic	Zhang et al 2020
620	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	1		Compound heterozygote	c.1103G>A (p.Gly368Glu)	Not Reported	Epistaxis	Shao et al 2016
621	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	5		Compound heterozygote	c.596-8T>A	Not Reported	Easy brusing, menorrhagia and bleeding upon tooth extraction	Shao et al 2016
622	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	3		Compound heterozygote		Not Reported	Bleeding following injury/surgery - also carries L465CfsX1 mutation	Shao et al 2016
690	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic	1.7		Compound heterozygote	c.1556G>A (p.Trp519*)	Severe	Post-traumatic hemorrhage	Zhang et al 2020
464	Point	Missense	c.1165G>A	389	371	p.Val389Ile	Serine Protease	34	102	Heterozygote		Not Reported	Asymptomatic. Appendectomy, adenoidectomy and right knee arthroscopy had been without mishap. Patient's mother, born 1949, also had reduced FXI:C (43%) associated with normal FXI:Ag (132%), whereas the father, born 1947, had both functional and antigen FXI levels within normal range (96 and 134%, respectively).Mother had same Val371Ile in heterozygous state. Both parents were asymptomatic.	Bozzao et al 2007
465	Point	Missense	c.1169G>C	390	372	p.Gly390Ala	Serine Protease	35		Compound heterozygote	c.1693G>A (p.Glu565Lys)	Not Reported	Haematuria and epistaxis requiring FFP for treatment and prophylaxis. No parent consanguinity; FXI activity of parents: father 46%, mother 54%.	Karimi et al 2009
467	Point	Missense	c.1178C>T	393	375	p.Ala393Val	Serine Protease	35	69	Heterozygote		Not Reported		Saunders et al 2009
245	Point	Missense	c.1186C>T	396	378	p.Arg396Cys	Serine Protease	61	83	Heterozygote		Not Reported		Mitchell et al 2006
468	Point	Missense	c.1186C>T	396	378	p.Arg396Cys	Serine Protease	44		Heterozygote		Not Reported	Patient bleeds++, 'Slow wound healing' and menorrhagia.	Mitchell et al 2007
389	Point	Missense	C.1196G>T	399	381	p.Trp399Leu	Serine Protease	35	40	Heterozygote		Not Reported	Pt presented with post-operative menorrhagia after a termination of pregnancy without prophylaxis. After that, multiple surgical procedures were performed without comlpication under afibrinolytic prophylaxis.	Quelin et al 2009
151	Point	Missense	c.1199C>T	400	382	p.Pro400Leu	Serine Protease	<1		Compound heterozygote	c.408C>A (p.Cys136*)	Severe		Bolton-Maggs et al 1999 Abstract
226	Point	Missense	c.1199C>T	400	382	p.Pro400Leu	Serine Protease	<1		Compound heterozygote	c.408C>A (p.Cys136*)	Severe		Mitchell et al 2006
209	Point	Missense	c.1199C>T	400	382	p.Pro400Leu	Serine Protease	<1	<1	Compound heterozygote	c.166T>C (p.Cys56Arg)	Severe		Quelin et al 2005
132	Point	Nonsense	c.1202G>A	401	383	p.Trp401*	Serine Protease			Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported		Wu et al 2003 (Abstract)
32	Point	Missense	c.1211C>A	404	386	p.Thr404Asn	Serine Protease	2	Decreased	Homozygote		Severe	No history of abnormal bleeding and no surgery. Received fresh frozen plasma at age 8 for release of tethered spinal cord without unusual bleeding.	Wistinghausen et al 1997
33	Point	Missense	c.1211C>A	404	386	p.Thr404Asn	Serine Protease	2	Decreased	Homozygote		Severe	Minor bleeding following surgery on patients nose.	Wistinghausen et al 1997
34	Point	Missense	c.1211C>A	404	386	p.Thr404Asn	Serine Protease	108	Normal	Heterozygote		Mild		Wistinghausen et al 1997
469	Point	Missense	c.1217A>C	406	388	p.His406Pro	Serine Protease	0.36	0.37	Heterozygote		Severe	No personal or familial abnormal bleeding Hx. Routine coagulation tests performed before a lipoma resection revealed an isolated partial FXI deficiency. Surgical procedure was performed with antifibrinolytic treatment without any complication.	de Raucourt et al 2008
250	Point	Missense	c.1219A>C	407	389	p.Thr407Pro	Serine Protease	35		Heterozygote		Not Reported		Mitchell et al 2006
508	Point	Missense	c.1222A>C	408	390	p.Thr408Pro	Serine Protease			Heterozygote		Not Reported		Unpublished Data
628	Point	Nonsense	c.1234C>T	412	394	p.Gln412*	Serine Protease	<1		Homozygote		Not Reported	No bleeding	Kawankar et al 2016
84	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	<1		Homozygote		Severe	Menorrhagia and excessive bleeding after appendectomy.	Gailani et al 2001 Abstract B
251	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	<1		Homozygote		Severe		Mitchell et al 2006
525	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
587	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	28		Heterozygote		Not Reported		Esteban et al 2017
588	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	22		Heterozygote		Not Reported		Esteban et al 2017
589	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	34		Heterozygote		Not Reported		Esteban et al 2017
590	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	26		Heterozygote		Not Reported		Esteban et al 2017
591	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	37		Heterozygote		Not Reported		Esteban et al 2017
592	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	33		Heterozygote		Not Reported		Esteban et al 2017
85	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	40		Heterozygote		Mild	No bleeding abnormalities	Gailani et al 2001 Abstract B
114	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	40		Heterozygote		Mild	No bleeding abnormalities	Gailani et al 2001 Abstract B
146	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	25	25	Heterozygote		Not Reported	Heavy post-partum bleeding and idiopathic hematuria.	Kravtsov et al 2005
252	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	58		Heterozygote		Not Reported		Mitchell et al 2006
472	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	43		Heterozygote		Not Reported		Saunders et al 2009
586	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	2		Compound heterozygote	c.166T>C (p.Cys56Arg)	Not Reported		Esteban et al 2017
470	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	2		Compound heterozygote	c.1026G>T (p.Gly342=)	Not Reported	No bleeding Hx.	Zucker et al 2007
471	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease	2		Compound heterozygote	c.1072delA	Not Reported	No Bleeding Hx.	Zucker et al 2007
36	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	<2		Homozygote		Severe	Frequent gingival bleeding.	Kravtsov et al 2004
516	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
86	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	15		Heterozygote		Not Reported	Bleeding after surgical or dental procedures	Gailani et al 2001 Abstract B
35	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	15	Decreased	Heterozygote		Not Reported	History of excessive bleeding after surgery and tooth extraction.	Kravtsov et al 2004
557	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	45		Heterozygote		Not Reported	Easy bruising and cerebellar ischemia in oral contraceptive	Tiscia et al 2017
683	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	18		Heterozygote		Not Reported	Bruising	Zhang et al 2020
685	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	13		Heterozygote		Severe	Asymptomatic	Zhang et al 2020
305	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	<3	10	Compound heterozygote		Severe	Bleeding after tooth extraction - minor bleeding not requiring substitutive treatment	Castaman et al 2008
427	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	<3		Compound heterozygote	c.730C>T (p.Gln244*)	Severe		Okumura et al 2006
623	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	3		Compound heterozygote	c.1021G>A (p.Glu341Lys)	Not Reported	Easy bruising and bleeding following injury/surgery	Shao et al 2016
681	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease	<1		Compound heterozygote	c.599G>C (p.Cys200Ser)	Severe	Epistaxis	Zhang et al 2020
473	Point	Missense	c.1255T>G	419	401	p.Ser419Ala	Serine Protease	30				Not Reported	No bleeding Hx.	Hopmeier et al 2004
614	Point	Nonsense	c.1270C>T	424	406	p.Gln424*	Serine Protease	<1		Homozygote		Not Reported	Easy bruising	Shao et al 2016
253	Point	Nonsense	c.1270C>T	424	406	p.Gln424*	Serine Protease	46		Heterozygote		Not Reported		Mitchell et al 2006
474	Point	Missense	c.1275G>C	425	407	p.Trp425Cys	Serine Protease	0.22	0.27	Heterozygote		Severe	No personal or family Hx of bleeding.	de Raucourt et al 2008
605	Point	Missense	c.1277T>C	426	408	p.Ile426Thr	Serine Protease	28		Heterozygote		Not Reported		Esteban et al 2017
636	Point	Missense	c.1283C>T	428	410	p.Thr428Ile	Serine Protease	25		Heterozygote		Not Reported	No bleeding	Kawankar et al 2016
475	Point	Missense	c.1283C>T	428	410	p.Thr428Ile	Serine Protease	38		Heterozygote		Not Reported		Saunders et al 2009
477	Point	Missense	c.1288G>A	430	412	p.Ala430Thr	Serine Protease	2	2	Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported	Epistaxis, post-operative bleeding and bleeding following tooth extraction. Patient also suffers from menorrhagia and experienced postpartum bleeding.	Castaman et al 2008
413	Point	Missense	c.1288G>A	430	412	p.Ala430Thr	Serine Protease	0.07	0.07	Compound heterozygote		Severe	Menorrhagia, gingivorrhagia and easy bruising. Dental extractions under tranexamic acid cover associated with post-procedural excessive bleeding. APTT 55 sec, Blood Group O.	de Raucourt et al 2008
476	Point	Missense	c.1288G>A	430	412	p.Ala430Thr	Serine Protease	0.07	0.07	Compound heterozygote	c.596C>T (p.Ala199Val)	Severe	Menorrhagia, gingivorrhagia and easy bruising. Dental extractions under tranexamic acid cover associated with post-procedural excessive bleeding. APTT 55 sec, Blood Group O.	de Raucourt et al 2008
479	Point	Missense	c.1288G>T	430	412	p.Ala430Ser	Serine Protease	35	35	Heterozygote		Not Reported		Saunders et al 2009
20	Point	Missense	c.1289C>T	430	412	p.Ala430Val	Serine Protease	45	39	Heterozygote		Mild	Dental work left patient with large facial brusing and nose bleeds. Menorrhagia.	Mitchell et al 1999
478	Point	Missense	c.1289C>T	430	412	p.Ala430Val	Serine Protease	<1	1	Compound heterozygote	31.5KbDeletion	Severe	Patient also has Alu-mediated whole gene deletion of one allele. She does not have a bleeding Hx and has had three uncomplicated deliveries.	Hill et al 2005
480	Point		c.1304+12G>A	-	-		Intronic	50		Heterozygote		Not Reported		Saunders et al 2009
59	Point		c.1305-10T>A	-	-		Intronic	1		Homozygote		Severe	Excessive bleeding after dental extraction.	Ventura et al 2000
654	Deletion	Frameshift	c.1322delT	-	-		Serine Protease	<1		Homozygote		Not Reported	Asymptomatic	Lin et al 2020
647	Deletion	Frameshift	c.1322delT	-	-		Serine Protease	1	4.1	Compound heterozygote	c.1107C>T (p.Tyr369=)	Not Reported	Easy bruising, menorrhagia and postpartum hemorrhage (Grade II bleeding)	Lin et al 2020
481	Point	Missense	c.1327C>T	443	425	p.Arg443Cys	Serine Protease	46		Heterozygote		Not Reported		Mitchell et al 2006
482	Point	Missense	c.1327C>T	443	425	p.Arg443Cys	Serine Protease	31	39	Heterozygote		Not Reported		Saunders et al 2009
148	Point	Missense	c.1334A>G	445	427	p.Tyr445Cys	Serine Protease	2		Compound heterozygote	c.403G>T (p.Glu135*)	Not Reported		Zivelin et al 1999 (Abstract)
483	Point	Missense	c.1334A>G	445	427	p.Tyr445Cys	Serine Protease	<1	<1	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Menorrhagia	Zucker et al 2007
38	Point	Missense	c.1378T>G	460	442	p.Phe460Val	Serine Protease	47	50	Heterozygote		Mild	History of easy bruising but excessive bleeding after wisdom teeth extraction. Menhorragia after child birth	Imanaka et al 1995
69	Point	Nonsense	c.1393G>T	465	447	p.Glu465*	Serine Protease	Undetectable	Undetectable	Compound heterozygote	c.1556insG	Severe	Asymptomatic - no abnormal bleeding history.	Tsukahara et al 2003
486	Point	Missense	c.1394C>G	451	433	p.Gln451Glu	Serine Protease	64		Heterozygote		Not Reported		Ishikawa et al 2007
487	Point	Missense	c.1394C>G	451	433	p.Gln451Glu	Serine Protease	58		Heterozygote		Not Reported	Father of patients 484, 485 and 486. The children's mother is heterozygous for c.1556dupG mutation.	Ishikawa et al 2007
484	Point	Missense	c.1394C>G	451	433	p.Gln451Glu	Serine Protease	<1		Compound heterozygote	c.1556insG	Severe	No history of episodes of excessive bleeding.	Ishikawa et al 2007
485	Point	Missense	c.1394C>G	451	433	p.Gln451Glu	Serine Protease	4		Compound heterozygote	c.1556insG	Not Reported	Frequent epistaxis.	Ishikawa et al 2007
42	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease			Homozygote		Severe		Bolton-Maggs et al 2003 Abstract
142	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	<1		Homozygote		Severe	Severe bleeding symptoms characterized by hemarthroses, easy bruising, excessive bleeding from tooth sockets and repeated episodes of bleeding from minor injurie s since childhood.	Jayandharan et al 2005
635	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	<1		Homozygote		Not Reported	Epistaxis	Kawankar et al 2016
254	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	<1		Homozygote		Severe		Mitchell et al 2006
206	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	5		Homozygote		Not Reported		Quelin et al 2005
13	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	51		Heterozygote		Not Reported	Long history of bleeding including epistaxis and post tonsillectomy.	Alhaq et al 2000
10	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	42		Heterozygote		Mild		Mitchell et al 2003
207	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	32		Heterozygote		Not Reported		Quelin et al 2005
141	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	2		Compound heterozygote	c.865G>C (p.Val289Leu)	Not Reported	Post op bleeding only	Jayandharan et al 2005
208	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	18	13	Compound heterozygote	c.259C>A (p.Pro87Thr)	Not Reported		Quelin et al 2005
408	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease	2	2	Compound heterozygote	c.449C>T (p.Thr150Met)	Not Reported		Saunders et al 2009
630	Point	Missense	c.1448T>C	483	465	p.Leu483Ser	Serine Protease	34		Heterozygote		Not Reported	Post traumatic joint bleed	Kawankar et al 2016
46	Point	Missense	c.1478C>T	493	475	p.Thr493Ile	Serine Protease			Heterozygote		Mild		Bolton-Maggs et al 2003 Abstract
164	Point	Missense	c.1478C>T	493	475	p.Thr493Ile	Serine Protease	39	27	Heterozygote		Mild	Asymptomatic microscopic haematuria identified at medical examination, age 14. Bleed for 2 days following tooth extraction.	McVey et al 2005
255	Point	Missense	c.1478C>T	493	475	p.Thr493Ile	Serine Protease	46		Heterozygote		Not Reported		Mitchell et al 2006
489	Point	Missense	c.1480+2T>G	494	476		Serine Protease	38	20	Heterozygote		Not Reported	Patient has no bleeding Hx.
258	Point	Nonsense	c.1489C>T	497	479	p.Arg497*	Serine Protease	55		Heterozygote		Not Reported		Mitchell et al 2006
490	Point	Nonsense	c.1489C>T	497	479	p.Arg497*	Serine Protease	1	<1	Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported	No bleeding following dental extraction. Bleeding following delivery - no therapy. Easy bruising.	Quelin et al 2009
491	Point	Missense	c.1498T>C	500	482	p.Cys500Arg	Serine Protease	9		Heterozygote		Not Reported		Saunders et al 2009
259	Point	Missense	c.1500C>G	500	482	p.Cys500Trp	Serine Protease	37		Heterozygote		Not Reported		Mitchell et al 2006
492	Point	Missense	c.1507T>C	503	485	p.Ser503Pro	Serine Protease	<1		Homozygote		Severe	Off-spring of consanguineous parents. Hx of moderate haemorrhage after abdominal surgery.	Fard-Esfahani et al 2008
2	Point	Missense	c.1531T>C	511	493	p.Tyr511His	Serine Protease	2		Compound heterozygote	c.166T>C (p.Cys56Arg)	Severe	No bleeding after an open fracture	Zivelin et al 2002
97	Point	Missense	c.1531T>C	511	493	p.Tyr511His	Serine Protease	1		Compound heterozygote	c.166T>C (p.Cys56Arg)	Severe	No bleeding after dental extraction	Zivelin et al 2002
202	Point	Missense	c.1545G>T	515	497	p.Trp515Cys	Serine Protease	22	25	Heterozygote		Not Reported		Quelin et al 2005
558	Point	Missense	c.1545G>T	515	497	p.Trp515Cys	Serine Protease	36		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
559	Point	Missense	c.1545G>T	515	497	p.Trp515Cys	Serine Protease	36		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
560	Point	Missense	c.1545G>T	515	497	p.Trp515Cys	Serine Protease	40		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
493	Point	Missense	c.1546G>A	516	498	p.Val516Met	Serine Protease	1		Compound heterozygote	c.1560dupG	Not Reported	Clinically, the patient experienced no significant episodes of bleeding even in operation and delivery, despite the severely decreased FXI activity at 1%. Patient has a prolonged aPTT: 69.3 s.	Kwon et al 2008
303	Insertion	Frameshift	c.1556insG	-	-		Serine Protease	35		Heterozygote		Not Reported	Prolonged PTT	Fard-Esfahani et al 2008
488	Insertion	Frameshift	c.1556insG	-	-		Serine Protease	54		Heterozygote		Not Reported	Patient's husband is heterozygous for Gln433Glu mutation. They have three children, two of which are compound heterozygous for Gln433Glu and c.1556dupG whilst the third child is heterozygous Gln433Glu	Ishikawa et al 2007
484	Insertion	Frameshift	c.1556insG	-	-		Serine Protease	<1		Compound heterozygote	c.1394C>G (p.Gln451Glu)	Severe	No history of episodes of excessive bleeding.	Ishikawa et al 2007
485	Insertion	Frameshift	c.1556insG	-	-		Serine Protease	4		Compound heterozygote	c.1394C>G (p.Gln451Glu)	Not Reported	Frequent epistaxis.	Ishikawa et al 2007
424	Insertion	Frameshift	c.1556insG	-	-		Serine Protease			Compound heterozygote	c.716T>C (p.Phe239Ser)	Not Reported		Kuroda et al 2005 (Abstract)
47	Insertion	Frameshift	c.1556insG	-	-		Serine Protease			Compound heterozygote	c.716T>C (p.Phe239Ser)	Severe		Morishita et al 2003 (Abstract)
69	Insertion	Frameshift	c.1556insG	-	-		Serine Protease	Undetectable	Undetectable	Compound heterozygote	c.1393G>T (p.Glu465*)	Severe	Asymptomatic - no abnormal bleeding history.	Tsukahara et al 2003
66	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	<5	Undetectable	Homozygote		Severe	No apparent bleeding tendancy noted in past history, pa tient was admitted with non-specific multiple ulcers.	Iijima et al 2000
517	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease			Heterozygote		Not Reported	Bruising, bleeding from minor wounds, bleeding after tooth extraction, oral bleeding and gastrointestinal bleeding	Colakoglu et al 2018
521	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
548	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	114		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
550	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	47		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
552	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	36		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
677	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease			Heterozygote		Not Reported		Yang et al 2021
678	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease			Heterozygote		Not Reported		Yang et al 2021
547	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	6		Compound heterozygote	c.901T>C (p.Phe301Leu)	Not Reported	Surgery-related bleeding	Tiscia et al 2017
551	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	7		Compound heterozygote	c.943G>A (p.Glu315Lys)	Not Reported	Vaginal bleeding during pregnancy	Tiscia et al 2017
674	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease			Compound heterozygote	c.1103G>A (p.Gly368Glu)	Not Reported	Reduced FXI activity and antigen levels to 1% and 1.3% of normal, respectively.	Yang et al 2021
684	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	<1		Compound heterozygote	c.1021G>A (p.Glu341Lys)	Severe	Intra-articular bleeding	Zhang et al 2020
688	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	<1		Compound heterozygote	c.1575_1576delAG	Severe	Menorrhagia	Zhang et al 2020
690	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease	1.7		Compound heterozygote	c.1136-4delGTTG	Severe	Post-traumatic hemorrhage	Zhang et al 2020
664	Point	Missense	c.1556G>C	519	501	p.Trp519Ser	Serine Protease			Heterozygote		Not Reported		Liu et al 2019
665	Point	Missense	c.1556G>C	519	501	p.Trp519Ser	Serine Protease			Heterozygote		Not Reported		Liu et al 2019
666	Point	Missense	c.1556G>C	519	501	p.Trp519Ser	Serine Protease			Heterozygote		Not Reported		Liu et al 2019
660	Point	Missense	c.1556G>C	519	501	p.Trp519Ser	Serine Protease			Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Reduced FXI activity and antigen levels to 6% and 10.7% of normal, respectively.	Liu et al 2019
48	Point	Missense	c.1557G>C	519	501	p.Trp519Cys	Serine Protease	2	<1	Homozygote		Severe	Patient experienced few bleedings, except for two post-partum haemorrhages. No history of severe mucocutaneous bleeding or haemarthrosis.	de Moerloose et al 2004
49	Point	Missense	c.1557G>C	519	501	p.Trp519Cys	Serine Protease	36	36	Heterozygote		Mild		de Moerloose et al 2004
50	Point	Missense	c.1557G>C	519	501	p.Trp519Cys	Serine Protease	40	32	Heterozygote		Mild		de Moerloose et al 2004
509	Point	Missense	c.1557G>C	519	501	p.Trp519Cys	Serine Protease	2	<1	Compound heterozygote	c.1832T>G (p.Val611Gly)	Not Reported		Unpublished Data
493	Duplication	Frameshift	c.1560dupG	-	-		Serine Protease	1		Compound heterozygote	c.1546G>A (p.Val516Met)	Not Reported	Clinically, the patient experienced no significant episodes of bleeding even in operation and delivery, despite the severely decreased FXI activity at 1%. Patient has a prolonged aPTT: 69.3 s.	Kwon et al 2008
607	Point	Missense	c.1562A>G	521	503	p.Tyr521Cys	Serine Protease	13	76	Homozygote		Not Reported		Su et al 2018
608	Point	Missense	c.1562A>G	521	503	p.Tyr521Cys	Serine Protease	38	93	Heterozygote		Not Reported		Su et al 2018
609	Point	Missense	c.1562A>G	521	503	p.Tyr521Cys	Serine Protease	42	102	Heterozygote		Not Reported		Su et al 2018
610	Point	Missense	c.1562A>G	521	503	p.Tyr521Cys	Serine Protease	37	98	Heterozygote		Not Reported		Su et al 2018
688	Deletion	Frameshift	c.1575_1576delAG	-	-		Serine Protease	<1		Compound heterozygote	c.1556G>A (p.Trp519*)	Severe	Menorrhagia	Zhang et al 2020
95	Point	Missense	c.1608G>C	536	518	p.Lys536Asn	Serine Protease			Heterozygote		Mild		Ventura et al 2000
601	Point	Missense	c.1608G>C	536	518	p.Lys536Asn	Serine Protease	3		Compound heterozygote	c.1796G>A (p.Cys599Tyr)	Not Reported		Esteban et al 2017
54	Point	Missense	c.1608G>C	536	518	p.Lys536Asn	Serine Protease	1	5	Compound heterozygote	c.1026G>T (p.Gly342=)	Severe	Excessive bleeding after dental extraction. Menorrhagia.	Ventura et al 2000
55	Point	Missense	c.1608G>C	536	518	p.Lys536Asn	Serine Protease	1	12	Compound heterozygote	c.1026G>T (p.Gly342=)	Severe	Non-bleeder.	Ventura et al 2000
599	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	20		Homozygote		Not Reported		Esteban et al 2017
600	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	59		Heterozygote		Not Reported		Esteban et al 2017
83	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	34		Heterozygote		Not Reported	Prolonged bleeding from a scratch on the nose that required cautery.	Gailani et al 2001 Abstract B
179	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	43	90	Heterozygote		Not Reported	Patient also has von Willebrand disease	Hill et al 2005
180	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	48		Heterozygote		Not Reported	Easy bruising, menorrhagia	Hill et al 2005
256	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	48	80	Heterozygote		Not Reported		Mitchell et al 2006
257	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	53		Heterozygote		Not Reported		Mitchell et al 2006
494	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	50	74	Heterozygote		Not Reported	No bleeding Hx.	Quelin et al 2009
205	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease	30		Compound heterozygote	c.783G>C (p.Glu261Asp)	Not Reported		Quelin et al 2005
515	Point	Missense	c.1619T>G	540	522	p.Val540Gly	Serine Protease			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
495	Point	Missense	c.1634G>A	545	527	p.Cys545Tyr	Serine Protease	<2	<5	Compound heterozygote	c.943G>A (p.Glu315Lys)	Severe	Bleeding after tooth extraction.	Zucker et al 2007
561	Point	Missense	c.1682G>A	561	543	p.Ala561Asp	Serine Protease	34		Compound heterozygote	c.943G>A (p.Glu315Lys)	Not Reported	Asymptomatic	Tiscia et al 2017
562	Point	Missense	c.1682G>A	561	543	p.Ala561Asp	Serine Protease	36		Compound heterozygote	c.943G>A (p.Glu315Lys)	Not Reported	Asymptomatic	Tiscia et al 2017
496	Point	Missense	c.1684G>A	562	544	p.Gly562Ser	Serine Protease	62		Heterozygote		Not Reported		Saunders et al 2009
497	Point	Missense	c.1684G>A	562	544	p.Gly562Ser	Serine Protease	105		Heterozygote		Not Reported	Mother of patient 496	Saunders et al 2009
593	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	30		Heterozygote		Not Reported		Esteban et al 2017
594	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	41		Heterozygote		Not Reported		Esteban et al 2017
595	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	36		Heterozygote		Not Reported		Esteban et al 2017
596	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	45		Heterozygote		Not Reported		Esteban et al 2017
597	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	32		Heterozygote		Not Reported		Esteban et al 2017
598	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	63		Heterozygote		Not Reported		Esteban et al 2017
177	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	49	37	Heterozygote		Mild	Post Partum Haemorrhage	Hill et al 2005
178	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	25	18	Heterozygote		Mild	2 Post-partum haemorrhage, no spontaneous bleeding	Hill et al 2005
203	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	23	32	Heterozygote		Not Reported	Epistaxis	Quelin et al 2005
465	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease	35		Compound heterozygote	c.1169G>C (p.Gly390Ala)	Not Reported	Haematuria and epistaxis requiring FFP for treatment and prophylaxis. No parent consanguinity; FXI activity of parents: father 46%, mother 54%.	Karimi et al 2009
68	Deletion		c.1714_1716+11del	-	-		Serine Protease	<1	<10	Compound heterozygote	c.403G>T (p.Glu135*)	Severe		Peretz et al 1996
260	Point		c.1716+1G>A	-	-		Serine Protease	71		Heterozygote		Not Reported		Mitchell et al 2006
78	Point		c.1716+1G>A	-	-		Serine Protease	<10	<10	Compound heterozygote	c.403G>T (p.Glu135*)	Severe	Mild - few episodes of mild but significant bleeding	Asakai et al 1989
555	Point		c.1716+248G>A	-	-		Intronic	37		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
556	Point		c.1716+248G>A	-	-		Intronic	60		Heterozygote		Not Reported	Asymptomatic	Tiscia et al 2017
82	Point	Missense	c.1718G>A	573	555	p.Gly573Glu	Serine Protease	<1	100	Homozygote		Severe	Injury-related bleeding tendency	Zivelin et al 2001 (Abstract)
261	Point	Missense	c.1718G>A	573	555	p.Gly573Glu	Serine Protease	51		Heterozygote		Not Reported		Mitchell et al 2006
629	Point	Missense	c.1721A>C	574	556	p.Asp574Ala	Serine Protease	<1		Homozygote		Not Reported	Epistaxis	Kawankar et al 2016
519	Point	Missense	c.1741T>C	581	563	p.Cys581Arg	Serine Protease			Homozygote		Not Reported	Bruising and bleeding from minor wounds	Colakoglu et al 2018
520	Point	Missense	c.1741T>C	581	563	p.Cys581Arg	Serine Protease			Heterozygote		Not Reported	Asymptomatic	Colakoglu et al 2018
263	Point	Missense	c.1742G>T	581	563	p.Cys581Phe	Serine Protease	45		Heterozygote		Not Reported		Mitchell et al 2006
87	Point	Missense	c.1760G>C	587	569	p.Trp587Ser	Serine Protease	15		Heterozygote		Not Reported	Bleeding after surgical or dental procedures	Gailani et al 2001 Abstract B
37	Point	Missense	c.1760G>C	587	569	p.Trp587Ser	Serine Protease			Heterozygote		Not Reported	History of numerous episodes of epistaxis, some requiring plasma infusions or cautery.	Kravtsov et al 2004
606	Point	Missense	c.1775T>C	592	574	p.Ile592Thr	Serine Protease	43		Heterozygote		Not Reported		Esteban et al 2017
136	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	2	105	Homozygote		Not Reported	No personal or family history of bleeding - was admitted for kidney donation to her brother.	Germanos-Haddad et al 2005
137	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	38	83	Heterozygote		Not Reported		Germanos-Haddad et al 2005
138	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	67	25	Heterozygote		Not Reported		Germanos-Haddad et al 2005
139	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	43	106	Heterozygote		Not Reported		Germanos-Haddad et al 2005
140	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	43	112	Heterozygote		Not Reported		Germanos-Haddad et al 2005
262	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	51	85	Heterozygote		Not Reported		Mitchell et al 2006
498	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	39		Heterozygote		Not Reported	Menorrhagia. Patient bled twice post-operatively - responds to FFP.	Mitchell et al 2007
619	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease	4		Compound heterozygote	c.841C>T (p.Gln281*)	Not Reported	Bleeding following injury/surgery and postpartum hemorrhage	Shao et al 2016
499	Point	Missense	c.1782C>A	594	576	p.Ser594Arg	Serine Protease	27	23	Heterozygote		Mild	Patient suffered haemorrhage following cervial erosion and miscarried during second trimester after experiencing pregnancy-associated bleeding.	Mitchell et al 1999
501	Point	Missense	c.1782C>A	594	576	p.Ser594Arg	Serine Protease	27	23	Heterozygote		Not Reported		Mitchell et al 2006
500	Point	Missense	c.1782C>A	594	576	p.Ser594Arg	Serine Protease	46	71	Heterozygote		Not Reported		O'Connell et al 2005
310	Point	Missense	c.1786G>A	596	578	p.Gly596Cys	Serine Protease	<1	<2	Compound heterozygote		Severe	Asymptomatic	Castaman et al 2008
502	Point	Missense	c.1789G>A	597	579	p.Glu597Lys	Serine Protease	15		Heterozygote		Not Reported	No spontaneous bleeding symptoms. No bleeding after delivery, and tubectomy and ovariectomy.	Quelin et al 2006
601	Point	Missense	c.1796G>A	599	581	p.Cys599Tyr	Serine Protease	3		Compound heterozygote	c.1608G>C (p.Lys536Asn)	Not Reported		Esteban et al 2017
31	Point	Nonsense	c.1797T>A	599	581	p.Cys599*	Serine Protease	1	20	Homozygote	c.1103G>C (p.Gly368Ala)	Severe	Patient suffered epistaxis. Also bled after dental extraction without treatment, treated after procedure with fresh frozen plasma. Showed brusing after delivery without treatment.	Quelin et al 2004
30	Point	Nonsense	c.1797T>A	599	581	p.Cys599*	Serine Protease	1	44	Compound heterozygote		Severe	Patient received fresh frozen plasma before thyroidectomy but still expreienced excessive bleeding after the operation. Did not show excessive bleeding after den tal extractions, prostatectomy and hemorrhoidectomy without replacement therapy.	Quelin et al 2004
503	Point	Missense	c.1822T>C	608	590	p.Tyr608His	Serine Protease	<1		Homozygote		Severe	Moderate haemorrhage folowing abdominal surgery. Patient is the off-spring of consanguineous parents.	Fard-Esfahani et al 2008
265	Point	Nonsense	c.1824C>A	608	590	p.Tyr608*	Serine Protease	41		Heterozygote		Not Reported		Mitchell et al 2006
181	Point	Nonsense	c.1824C>A	608	590	p.Tyr608*	Serine Protease	30				Not Reported	Menorrhagia	Hill et al 2005
509	Point	Missense	c.1832T>G	611	593	p.Val611Gly	Serine Protease	2	<1	Compound heterozygote	c.1557G>C (p.Trp519Cys)	Not Reported		Unpublished Data
157	Point	Missense	c.1849T>G	617	599	p.Trp617Arg	Serine Protease	<1	<1	Homozygote		Severe	Asymptomatic	Takamiya et al 2005
266	Point	Missense	c.1853T>C	618	600	p.Ile618Ser	Serine Protease	<2		Homozygote		Severe		Mitchell et al 2006
182	Point	Missense	c.1853T>C	618	600	p.Ile618Ser	Serine Protease	42	35	Heterozygote		Not Reported	Mild bleeding history, easy bruising	Hill et al 2005
267	Point	Missense	c.1853T>C	618	600	p.Ile618Ser	Serine Protease	23		Heterozygote		Not Reported		Mitchell et al 2006
514	Point	Missense	c.1856T>C	619	601	p.Leu619Pro	Serine Protease	<1	<1	Homozygote		Severe	Menorrhagia	Spena et al 2009

Factor XI Gene (F11)

Variant Database

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

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

Factor XI Gene (F11)

Variant Database

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

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

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