Factor XI Variant Database

Variant ID	No. of Cases	Type	Effect	Mutation (cDNA)	Amino Acid HGVS	Amino Acid Legacy	Protein Change	Domain
313	0	Point		c.-446G>T	-	-		UTR 5
312	0	Point		c.-316C>G	-	-		UTR 5
130	2	Point		c.-54G>A	-	-		Promoter Region
314	0	Point		c.-2+120G>A	-	-		Intronic
75	0	Point		c.-1-198T>G	-	-		Promoter Region
74	0	Point		c.-1-231T>C	-	-		Promoter Region
93	0	Point		c.-1-273C>G	-	-		Promoter Region
315	0	Point		c.-1-229T>C	-	-		Intronic
92	0	Point		c.-1-403G>T	-	-		Promoter Region
76	0	Point		c.-1-138C>A	-	-		Promoter Region
184	1	Deletion		Exons 11-15 deletion	-	-		Serine Protease
109	3	Deletion		31.5KbDeletion	-	-
227	1	Insertion	Frameshift	c.55+6T>G+10insAG	-	-		Linker
340	0	Point		c.55+2T>C	-	-		Linker
77	0	Duplication	Frameshift	c.56-1209dupCA	-	-		Linker
160	1	Deletion	Frameshift	c.73_86del	-	-		Apple 1
258	1	Deletion	Inframe	c.78_80delGGA	-	-		Apple 1
10	1	Insertion	Frameshift	c.192_193insG	-	-		Apple 1
205	1	Point		c.218+2T>A	-	-		Intronic
352	3	Point		c.218+4A>G	-	-		Intronic
79	0	Point		c.218+126A>G	-	-		Intronic
327	0	Point		c.1716+250G>A	-	-		Intronic
328	0	Point		c.1716+252C>T	-	-		Intronic
329	0	Point		c.*265A>G	-	-		UTR 3
330	0	Point		c.*296G>C	-	-		UTR 3
36	2	Duplication	Frameshift	c.301_307dupAAGCAAT	-	-		Apple 1
364	1	Deletion		c.325+2del124	-	-		Intronic
341	4	Point		c.326-1G>A	-	-		Intronic
346	0	Deletion	Frameshift	c.327delT	-	-		Linker
318	0	Point		c.485+181T>C	-	-		Intronic
317	0	Point		c.485+122T>A	-	-		Intronic
70	0	Point		c.485+5G>C	-	-		Intronic
342	0	Point		c.485+1G>A	-	-		Intronic
86	0	Point		c.485+23G>C	-	-		Intronic
71	3	Point		c.486-2A>G	-	-		Intronic
87	0	Point		c.486-361C>T	-	-		Intronic
320	0	Point		c.486-181C>T	-	-		Intronic
319	0	Point		c.486-88T>C	-	-		Intronic
80	0	Point		c.486-431G>A	-	-		Intronic
69	6	Point		c.595+3A>G	-	-		Intronic
343	1	Point		c.596-8T>A	-	-		Apple 3
119	2	Deletion	Inframe	c.644_649delTCGACA	-	-	p.Ile215_Asp216del	Apple 3
209	1	Insertion	Frameshift	c.717insT	-	-		Apple 3
253	1	Deletion	Frameshift	c.769delC	-	-		Apple 3
220	0	Deletion	Frameshift	c.865+2delAAACTGAGAGT	-	-		Intronic
59	1	Deletion	Frameshift	c.907delG	-	-		Apple 4
116	1	Deletion	Frameshift	c.918delG	-	-		Apple 4
166	1	Duplication	Frameshift	c.933_951dupAAAAAGTCACGAGGCCTG	-	-		Apple 4
142	2	Deletion	Frameshift	c.961_962delTG	-	-	p.Cys321HisfsTer37	Apple 4
67	2	Duplication	Frameshift	c.1026dupG	-	-		Apple 4
239	1	Point		c.1028+5G>T	-	-		Apple 4
72	0	Point		c.1029-2A>G	-	-		Apple 4
37	2	Deletion	Frameshift	c.1072delA	-	-		Apple 4
108	2	Point		c.1135+1G>A	-	-		Intronic
110	8	Deletion	Frameshift	c.1136-4delGTTG	-	-		Intronic
176	1	Point		c.1304+12G>A	-	-		Intronic
38	1	Point		c.1305-10T>A	-	-		Intronic
357	2	Deletion	Frameshift	c.1322delT	-	-		Serine Protease
347	0	Deletion	Frameshift	c.1325delT	-	-	p.Leu442Cys	Serine Protease
348	0	Deletion	Frameshift	c.1448delT	-	-		Serine Protease
344	0	Point	Missense	c.1480+3A>T	-	-		Serine Protease
303	0	Point		c.1481-188C>T	-	-		Intronic
324	0	Point		c.1481-34G>T	-	-		Intronic
322	0	Point		c.1481-215C>T	-	-		Intronic
47	7	Insertion	Frameshift	c.1556insG	-	-		Serine Protease
215	1	Duplication	Frameshift	c.1560dupG	-	-		Serine Protease
84	0	Duplication	Frameshift	c.1574-93dupAT	-	-		Intronic
367	1	Deletion	Frameshift	c.1575_1576delAG	-	-		Serine Protease
325	0	Point		c.1576+51C>A	-	-		Intronic
45	1	Deletion		c.1714_1716+11del	-	-		Serine Protease
48	2	Point		c.1716+1G>A	-	-		Serine Protease
326	2	Point		c.1716+248G>A	-	-		Intronic
366	0	Point	Missense	c.1717-1G>A	-	-		Serine Protease
83	0	Point		c.1717-48A>G	-	-		Intronic
132	3	Point	Missense	c.3G>T	1	-18	p.Met1Ile	Signal Peptide
226	1	Point	Nonsense	c.15T>A	5	-14	p.Tyr5*	Signal Peptide
120	1	Point	Missense	c.44C>T	15	-4	p.Ser15Leu	Signal Peptide
225	0	Point	Missense	c.52G>C	18	-1	p.Gly18Arg	Signal Peptide
365	1	Point	Missense	c.55G>A	19	1		Linker
131	1	Point	Nonsense	c.55G>T	19	1	p.Glu19*	Linker
185	0	Point	Nonsense	c.67C>T	23	5	p.Gln23*	Apple 1
1	0	Point	Missense	c.100G>C	34	16	p.Asp34His	Apple 1
152	1	Point	Missense	c.113T>C	38	20	p.Val38Ala	Apple 1
125	1	Point	Missense	c.122C>T	41	23	p.Pro41Leu	Apple 1
133	1	Point	Missense	c.122C>A	41	23	p.Pro41Gln	Apple 1
228	2	Point	Missense	c.126C>G	42	24	p.Ser42Arg	Apple 1
271	0	Point	Missense	c.127G>A	43	25	p.Ala43Thr	Apple 1
113	4	Point	Missense	c.137G>T	46	28	p.Cys46Phe	Apple 1
24	1	Point	Missense	c.141G>C	47	29	p.Gln47His	Apple 1
159	2	Point	Missense	c.151A>C	51	33	p.Thr51Pro	Apple 1
158	0	Point	Missense	c.152C>T	51	33	p.Thr51Ile	Apple 1
68	36	Point	Missense	c.166T>C	56	38	p.Cys56Arg	Apple 1
153	0	Point	Nonsense	c.168T>A	56	38	p.Cys56*	Apple 1
219	1	Point	Missense	c.168T>G	56	38	p.Cys56Trp	Apple 1
78	0	Point	Missense	c.197C>T	66	48	p.Pro66Leu	Apple 1
229	0	Point	Missense	c.209C>T	70	52	p.Pro70Leu	Apple 1
218	0	Point	Nonsense	c.214C>T	72	54	p.Arg72*	Apple 1
259	1	Point	Missense	c.215G>C	72	54	p.Arg72Pro	Apple 1
221	0	Point	Missense	c.224C>T	75	57	p.Thr75Ile	Apple 1
154	0	Point	Missense	c.226G>C	76	58	p.Cys76Arg	Apple 1
134	1	Point	Missense	c.227G>T	76	58	p.Cys76Phe	Apple 1
102	1	Point	Missense	c.227G>A	76	58	p.Cys76Tyr	Apple 1
129	1	Point	Missense	c.259C>A	87	69	p.Pro87Thr	Apple 1
187	1	Point	Missense	c.290G>C	97	79	p.Gly97Ala	Apple 1
230	2	Point	Missense	c.296C>A	99	81	p.Ser99Tyr	Apple 1
114	1	Point	Missense	c.302A>G	101	83	p.Lys101Arg	Apple 1
8	5	Point	Nonsense	c.316C>T	106	88	p.Gln106*	Linker
135	11	Point	Missense	c.325G>A	109	91	p.Ala109Thr	Linker
126	2	Point	Missense	c.328T>G	110	92	p.Cys110Gly	Apple 2
231	2	Point	Missense	c.359T>C	120	102	p.Met120Thr	Apple 2
60	7	Point	Missense	c.365G>A	122	104	p.Gly122Asp	Apple 2
104	3	Point	Nonsense	c.400C>T	134	116	p.Gln134*	Apple 2
58	61	Point	Nonsense	c.403G>T	135	117	p.Glu135*	Apple 2
284	1	Point	Missense	Unspecified (C136R)	136	118	p.Cys136Arg	Apple 2
105	4	Point	Nonsense	c.408C>A	136	118	p.Cys136*	Apple 2
121	5	Point	Missense	c.419G>A	140	122	p.Cys140Tyr	Apple 2
161	2	Point	Missense	c.422C>T	141	123	p.Thr141Met	Apple 2
304	0	Point	Silent	c.423G>A	141	123	p.Thr141=	Apple 2
353	3	Point	Missense	c.428A>C	143	125	p.Asp143Ala	Apple 2
39	0	Point	Silent	c.429C>T	143	125	p.Asp143=	Apple 2
232	4	Point	Missense	c.434A>G	145	127	p.His145Arg	Apple 2
20	22	Point	Nonsense	c.438C>A	146	128	p.Cys146*	Apple 2
138	6	Point	Missense	c.449C>T	150	132	p.Thr150Met	Apple 2
29	4	Point	Missense	c.452A>C	151	133	p.Tyr151Ser	Apple 2
139	2	Point	Missense	c.452A>G	151	133	p.Tyr151Cys	Apple 2
21	2	Point	Missense	c.454G>C	152	134	p.Ala152Pro	Apple 2
94	1	Point	Missense	c.484C>T	162	144	p.Arg162Cys	Apple 2
238	3	Point	Missense	c.518G>A	173	155	p.Gly173Glu	Apple 2
97	1	Point	Missense	c.569T>C	190	172	p.Leu190Pro	Apple 2
163	1	Point	Missense	c.596C>T	199	181	p.Ala199Val	Apple 3
336	2	Point	Missense	c.599G>C	200	182	p.Cys200Ser	Apple 3
22	2	Point	Missense	c.599G>A	200	182	p.Cys200Tyr	Apple 3
165	2	Point	Missense	c.604A>G	202	184	p.Arg202Gly	Apple 3
123	1	Point	Missense	c.616T>C	206	188	p.Pro206Ser	Apple 3
234	0	Point	Missense	c.646G>A	216	198	p.Asp216Asn	Apple 3
11	2	Point	Nonsense	c.682C>T	228	210	p.Arg228*	Apple 3
222	4	Point	Missense	c.688T>A	230	212	p.Cys230Ser	Apple 3
23	4	Point	Missense	c.688T>C	230	212	p.Cys230Arg	Apple 3
349	1	Point	Missense	c.695A>C	232	214	p.His232Pro	Apple 3
32	3	Point	Missense	c.716T>C	239	221	p.Phe239Ser	Apple 3
275	0	Point	Missense	c.723C>G	241	223	p.Phe241Leu	Apple 3
101	2	Point	Missense	c.728C>T	243	225	p.Ser243Phe	Apple 3
155	3	Point	Nonsense	c.730C>T	244	226	p.Gln244*	Apple 3
64	0	Point	Missense	c.731A>G	244	226	p.Gln244Arg	Apple 3
95	19	Point	Nonsense	c.738G>A	246	228	p.Trp246*	Apple 3
41	8	Point	Missense	c.738G>C	246	228	p.Trp246Cys	Apple 3
140	1	Point	Nonsense	c.751C>T	251	233	p.Gln251*	Apple 3
235	1	Point	Missense	c.755G>A	252	234	p.Arg252Lys	Apple 3
25	0	Point	Missense	c.755G>T	252	234	p.Arg252Ile	Apple 3
141	2	Point	Missense	c.756A>T	252	234	p.Arg252Ser	Apple 3
52	2	Point	Missense	c.764G>A	255	237	p.Cys255Tyr	Apple 3
128	2	Point	Missense	c.783G>C	261	243	p.Glu261Asp	Apple 3
115	2	Point	Missense	c.788G>A	263	245	p.Gly263Glu	Apple 3
63	2	Point	Missense	c.797G>A	266	248	p.Ser266Asn	Apple 3
55	0	Point	Silent	c.801A>G	267	249	p.Thr267=	Apple 3
30	5	Point	Missense	c.802C>T	268	250	p.Arg268Cys	Apple 3
210	2	Point	Missense	c.803G>A	268	250	p.Arg268His	Apple 3
40	4	Point	Missense	c.809A>T	270	252	p.Lys270Ile	Apple 3
255	1	Point	Missense	c.829G>A	277	259	p.Gly277Ser	Apple 3
42	22	Point	Nonsense	c.841C>T	281	263	p.Gln281*	Apple 3
81	0	Point	Silent	c.861C>T	287	269	p.Ile287=	Linker
99	1	Point	Missense	c.865G>C	289	271	p.Val289Leu	Apple 3
65	22	Point	Missense	c.901T>C	301	283	p.Phe301Leu	Apple 4
82	0	Point	Missense	c.922A>T	308	290	p.Ile308Phe	Apple 4
118	0	Point	Missense	c.923T>C	308	290	p.Ile308Thr	Apple 4
354	8	Point	Missense	c.938G>T	313	295	p.Ser313Ile	Apple 4
122	11	Point	Missense	c.943G>A	315	297	p.Glu315Lys	Apple 4
236	1	Point	Nonsense	c.943G>T	315	297	p.Glu315*	Apple 4
2	0	Point	Missense	c.959T>C	320	302	p.Leu320Pro	Apple 4
3	3	Point	Missense	c.965C>T	322	304	p.Thr322Ile	Apple 4
194	3	Point	Missense	c.973G>T	325	307	p.Val325Phe	Apple 4
337	0	Point	Missense	Unspecified (R326H)	326	308	p.Arg326His	Apple 4
5	4	Point	Missense	c.976C>T	326	308	p.Arg326Cys	Apple 4
240	1	Point	Nonsense	c.981C>A	327	309	p.Cys327*	Apple 4
169	1	Point	Missense	c.992C>T	331	313	p.Thr331Ile	Apple 4
54	0	Point	Missense	c.1016G>T	339	321	p.Cys339Phe	Apple 4
4	6	Point	Missense	c.1021G>A	341	323	p.Glu341Lys	Apple 4
34	3	Point	Silent	c.1026G>T	342	324	p.Gly342=	Apple 4
361	1	Point	Nonsense	c.1033A>T	345	327	p.Lys345*	Apple 4
12	2	Point	Missense	c.1060G>A	354	336	p.Gly354Arg	Apple 4
143	1	Point	Missense	c.1077A>G	359	341	p.Ile359Met	Apple 4
170	1	Point	Missense	c.1079T>C	360	342	p.Leu360Pro	Apple 4
144	1	Point	Missense	c.1084G>A	362	344	p.Gly362Arg	Apple 4
223	1	Point	Missense	c.1102G>A	368	350	p.Gly368Arg	Apple 4
14	1	Point	Missense	c.1103G>C	368	350	p.Gly368Ala	Apple 4
18	4	Point	Missense	c.1103G>A	368	350	p.Gly368Glu	Apple 4
100	1	Point	Missense	c.1106A>C	369	351	p.Tyr369Ser	Apple 4
360	3	Point	Silent	c.1107C>T	369	351	p.Tyr369=	Apple 4
43	9	Point	Nonsense	c.1107C>A	369	351	p.Tyr369*	Apple 4
145	1	Point	Missense	c.1118T>C	373	355	p.Leu373Ser	Apple 4
146	1	Point	Missense	c.1120T>C	374	356	p.Cys374Arg	Apple 4
147	1	Point	Missense	c.1135+5G>A	378	360		Intronic
171	1	Point	Missense	c.1165G>A	389	371	p.Val389Ile	Serine Protease
196	1	Point	Missense	c.1169G>C	390	372	p.Gly390Ala	Serine Protease
241	1	Point	Missense	c.1178C>T	393	375	p.Ala393Val	Serine Protease
98	2	Point	Missense	c.1186C>T	396	378	p.Arg396Cys	Serine Protease
66	0	Point	Silent	c.1191T>C	397	379	p.Gly397=	Serine Protease
252	0	Point	Missense	c.1195T>C	399	381	p.Trp399Arg	Serine Protease
224	1	Point	Missense	C.1196G>T	399	381	p.Trp399Leu	Serine Protease
106	3	Point	Missense	c.1199C>T	400	382	p.Pro400Leu	Serine Protease
96	1	Point	Nonsense	c.1202G>A	401	383	p.Trp401*	Serine Protease
273	0	Point	Missense	Unspecified (V403M)	403	385	p.Val403Met	Serine Protease
15	3	Point	Missense	c.1211C>A	404	386	p.Thr404Asn	Serine Protease
173	1	Point	Missense	c.1217A>C	406	388	p.His406Pro	Serine Protease
26	1	Point	Missense	c.1219A>C	407	389	p.Thr407Pro	Serine Protease
256	1	Point	Missense	c.1222A>C	408	390	p.Thr408Pro	Serine Protease
363	1	Point	Nonsense	c.1234C>T	412	394	p.Gln412*	Serine Protease
51	17	Point	Missense	c.1247G>A	416	398	p.Cys416Tyr	Serine Protease
242	0	Point	Missense	c.1252G>A	418	400	p.Gly418Ser	Serine Protease
16	11	Point	Missense	c.1253G>T	418	400	p.Gly418Val	Serine Protease
243	1	Point	Missense	c.1255T>G	419	401	p.Ser419Ala	Serine Protease
148	2	Point	Nonsense	c.1270C>T	424	406	p.Gln424*	Serine Protease
338	0	Point	Missense	Unspecified (W425L)	425	407	p.Trp425Leu	Serine Protease
174	1	Point	Missense	c.1275G>C	425	407	p.Trp425Cys	Serine Protease
300	1	Point	Missense	c.1277T>C	426	408	p.Ile426Thr	Serine Protease
175	2	Point	Missense	c.1283C>T	428	410	p.Thr428Ile	Serine Protease
244	1	Point	Missense	c.1288G>T	430	412	p.Ala430Ser	Serine Protease
164	3	Point	Missense	c.1288G>A	430	412	p.Ala430Thr	Serine Protease
6	2	Point	Missense	c.1289C>T	430	412	p.Ala430Val	Serine Protease
156	2	Point	Missense	c.1327C>T	443	425	p.Arg443Cys	Serine Protease
103	2	Point	Missense	c.1334A>G	445	427	p.Tyr445Cys	Serine Protease
217	0	Point	Missense	c.1336A>G	446	428	p.Ser446Gly	Serine Protease
177	4	Point	Missense	c.1394C>G	451	433	p.Gln451Glu	Serine Protease
332	0	Point	Missense	c.1694T>A	454	436	p.Ile454Lys	Serine Protease
19	1	Point	Missense	c.1378T>G	460	442	p.Phe460Val	Serine Protease
46	1	Point	Nonsense	c.1393G>T	465	447	p.Glu465*	Serine Protease
62	11	Point	Missense	c.1432G>A	478	460	p.Gly478Arg	Serine Protease
351	1	Point	Missense	c.1448T>C	483	465	p.Leu483Ser	Serine Protease
31	3	Point	Missense	c.1478C>T	493	475	p.Thr493Ile	Serine Protease
178	1	Point	Missense	c.1480+2T>G	494	476		Serine Protease
149	2	Point	Nonsense	c.1489C>T	497	479	p.Arg497*	Serine Protease
246	1	Point	Missense	c.1498T>C	500	482	p.Cys500Arg	Serine Protease
150	1	Point	Missense	c.1500C>G	500	482	p.Cys500Trp	Serine Protease
180	1	Point	Missense	c.1507T>C	503	485	p.Ser503Pro	Serine Protease
53	2	Point	Missense	c.1531T>C	511	493	p.Tyr511His	Serine Protease
127	4	Point	Missense	c.1545G>T	515	497	p.Trp515Cys	Serine Protease
214	1	Point	Missense	c.1546G>A	516	498	p.Val516Met	Serine Protease
339	4	Point	Missense	c.1556G>C	519	501	p.Trp519Ser	Serine Protease
44	14	Point	Nonsense	c.1556G>A	519	501	p.Trp519*	Serine Protease
33	4	Point	Missense	c.1557G>C	519	501	p.Trp519Cys	Serine Protease
331	4	Point	Missense	c.1562A>G	521	503	p.Tyr521Cys	Serine Protease
35	4	Point	Missense	c.1608G>C	536	518	p.Lys536Asn	Serine Protease
50	9	Point	Missense	c.1613C>T	538	520	p.Pro538Leu	Serine Protease
262	1	Point	Missense	c.1619T>G	540	522	p.Val540Gly	Serine Protease
167	1	Point	Missense	c.1634G>A	545	527	p.Cys545Tyr	Serine Protease
280	2	Point	Missense	c.1682G>A	561	543	p.Ala561Asp	Serine Protease
247	2	Point	Missense	c.1684G>A	562	544	p.Gly562Ser	Serine Protease
117	10	Point	Missense	c.1693G>A	565	547	p.Glu565Lys	Serine Protease
85	0	Point	Silent	c.1707C>T	569	551	p.Asp569=	Serine Protease
206	0	Point		c.1717-2A>G	573	555		Serine Protease
49	2	Point	Missense	c.1718G>A	573	555	p.Gly573Glu	Serine Protease
248	0	Point	Missense	c.1721A>G	574	556	p.Asp574Gly	Serine Protease
350	1	Point	Missense	c.1721A>C	574	556	p.Asp574Ala	Serine Protease
263	2	Point	Missense	c.1741T>C	581	563	p.Cys581Arg	Serine Protease
151	1	Point	Missense	c.1742G>T	581	563	p.Cys581Phe	Serine Protease
17	2	Point	Missense	c.1760G>C	587	569	p.Trp587Ser	Serine Protease
301	1	Point	Missense	c.1775T>C	592	574	p.Ile592Thr	Serine Protease
9	8	Point	Missense	c.1778C>T	593	575	p.Thr593Met	Serine Protease
249	3	Point	Missense	c.1782C>A	594	576	p.Ser594Arg	Serine Protease
168	1	Point	Missense	c.1786G>A	596	578	p.Gly596Cys	Serine Protease
181	1	Point	Missense	c.1789G>A	597	579	p.Glu597Lys	Serine Protease
299	1	Point	Missense	c.1796G>A	599	581	p.Cys599Tyr	Serine Protease
13	2	Point	Nonsense	c.1797T>A	599	581	p.Cys599*	Serine Protease
56	0	Point	Silent	c.1812G>T	604	586	p.Arg604=	Serine Protease
250	1	Point	Missense	c.1822T>C	608	590	p.Tyr608His	Serine Protease
27	2	Point	Nonsense	c.1824C>A	608	590	p.Tyr608*	Serine Protease
257	1	Point	Missense	c.1832T>G	611	593	p.Val611Gly	Serine Protease
57	0	Point	Silent	c.1839G>A	613	595	p.Glu613=	Serine Protease
311	0	Point	Missense	c.1843G>A	615	597	p.Val615Met	Serine Protease
111	1	Point	Missense	c.1849T>G	617	599	p.Trp617Arg	Serine Protease
28	3	Point	Missense	c.1853T>C	618	600	p.Ile618Ser	Serine Protease
260	1	Point	Missense	c.1856T>C	619	601	p.Leu619Pro	Serine Protease

Factor XI Gene (F11)

Variant Database

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

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

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