Factor V Variant Database

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Tabular Format | Unique Variant List

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

Variant ID	No. of Cases	Type	Effect	Mutation (cDNA-HGVS)	Amino Acid HGVS	Amino Acid Legacy	Protein Change (HGVS)	Domain	Location
20	4	Deletion	Large Deletion	delexon1-7	NA	NA	NA	Multiple Domains	Exon 1-7
1	2	Deletion	Large Deletion	delexon1-25	NA	NA	NA	Multiple Domains	Exon 1-25
359	3	Point	Missense	c.43G>A	15	-13	p.Gly15Ser	Signal Peptide	Exon 1
2	1	Point	Missense	c.44G>A	15	-13	p.Gly15Asp	Signal Peptide	Exon 1
358	1	Point	Missense	c.106G>A	36	8	p.Val36Met	d5A1	Exon 1
3	10	Point	Intronic	c.158+1G>A	NA	NA	NA	Intron	Intron 1
4	1	Point	Intronic	c.250+1G>A	NA	NA	NA	Intron	Intron 2
5	1	Point	Missense	c.269T>C	90	62	p.Leu90Ser	d5A1	Exon 3
6	1	Point	Missense	c.271T>A	91	63	p.Tyr91Asn	d5A1	Exon 3
357	1	Point	Missense	c.281T>C	94	66	p.Val94Ala	d5A1	Exon 3
7	1	Point	Missense	c.283G>A	95	67	p.Gly95Arg	d5A1	Exon 3
8	16	Point	Missense	c.286G>C	96	68	p.Asp96His	d5A1	Exon 3
9	3	Point	Missense	c.319G>C	107	79	p.Asp107His	d5A1	Exon 3
10	1	Point	Missense	c.320A>G	107	79	p.Asp107Gly	d5A1	Exon 3
356	1	Point	Missense	c.333C>A	111	83	p.Ser111Arg	d5A1	Exon 3
11	1	Point	Missense	c.355T>A	119	91	p.Tyr119Asn	d5A1	Exon 3
355	1	Point	Missense	c.358A>G	120	92	p.Ser120Gly	d5A1	Exon 3
12	4	Point	Intronic	c.373+2T>C	NA	NA	NA	Intron	Intron 3
354	1	Point	Missense	c.374G>A	125	97	p.Gly125Asp	d5A1	Exon 4
218	4	Point	Silent	c.405NA	135	107	p.Ala135Ala	d5A1	Exon 4
237	1	Point	Missense	c.430C>A	144	116	p.Pro144Thr	d5A1	Exon 4
353	1	Point	Missense	c.434G>A	145	117	p.Gly145Asp	d5A1	Exon 4
13	2	Deletion	Frameshift	c.434delG	145	117	p.Gly145Alafs*34	d5A1	Exon 4
352	2	Point	Missense	c.437G>A	146	118	p.Arg146Gln	d5A1	Exon 4
14	7	Point	Nonsense	c.439G>T	147	119	p.Glu147*	d5A1	Exon 4
15	3	Point	Missense	c.479C>G	160	132	p.Pro160Arg	d5A1	Exon 4
16	8	Point	Missense	c.524A>G	175	147	p.His175Arg	d5A1	Exon 4
351	2	Point	Missense	c.538G>A	180	152	p.Glu180Lys	d5A1	Exon 4
219	4	Point	Silent	c.552NA	184	156	p.Ser184Ser	d5A1	Exon 4
17	1	Point	Missense	c.566C>T	189	161	p.Pro189Leu	d5A1	Exon 4
18	2	Point	Missense	c.578G>C	193	165	p.Cys193Ser	d5A1	Exon 4
19	1	Deletion	Frameshift	c.585delA	197	169	p.Thr197Profs*2	d5A1	Exon 4
21	1	Duplication	Inframe	c.601_678dup	201	173	p.Gly201_Gln226dup	d5A1	Exon 5
350	2	Point	Missense	c.628C>A	210	182	p.Gln210Lys	d5A1	Exon 5
22	1	Point	Missense	c.647C>T	216	188	p.Ala216Val	d5A1	Exon 5
23	5	Point	Missense	c.653T>C	218	190	p.Phe218Ser	d5A1	Exon 5
24	2	Point	Missense	c.692T>G	231	203	p.Met231Arg	d5A1	Exon 5
25	5	Point	Missense	c.698C>G	233	205	p.Thr233Arg	d5A1	Exon 5
26	1	Point	Nonsense	c.706G>T	236	208	p.Gly236*	d5A1	Exon 5
27	1	Point	Intronic	c.731-2A>C	NA	NA	NA	Intron	Intron 5
28	3	Point	Missense	c.746C>T	249	221	p.Ala249Val	d5A1	Exon 6
29	4	Point	Missense	c.763T>C	255	227	p.Trp255Arg	d5A1	Exon 6
349	1	Point	Missense	c.773T>C	258	230	p.Leu258Pro	d5A1	Exon 6
30	2	Point	Missense	c.776G>A	259	231	p.Gly259Glu	d5A1	Exon 6
31	2	Point	Missense	c.785C>G	262	234	p.Ser262Trp	d5A1	Exon 6
32	5	Point	Missense	c.785C>T	262	234	p.Ser262Leu	d5A1	Exon 6
33	1	Point	Missense	c.833A>G	278	250	p.Gln278Arg	d5A1	Exon 6
348	1	Point	Missense	c.834G>C	278	250	p.Gln278His	d5B	Exon 6
347	2	Point	Missense	c.886G>A	296	268	p.Ala296Thr	d5A1	Exon 6
346	1	Point	Missense	c.910G>A	304	276	p.Gly304Arg	d5A1	Exon 6
34	2	Point	Missense	c.911G>A	304	276	p.Gly304Glu	d5A1	Exon 6
345	2	Point	Missense	c.996A>C	332	304	p.Lys332Asn	NA	Exon 6
35	3	Point	Missense	c.1000A>G	334	306	p.Arg334Gly	d5A2	Exon 7
36	2	Point	Missense	c.1001G>C	334	306	p.Arg334Thr	d5A2	Exon 7
37	3	Point	Nonsense	c.1012A>T	338	310	p.Lys338*	d5A2	Exon 7
38	2	Point	Missense	c.1021C>T	341	313	p.Arg341Cys	d5A2	Exon 7
344	2	Point	Missense	c.1033C>T	345	317	p.Arg345Trp	d5A2	Exon 7
343	3	Point	Missense	c.1034G>A	345	317	p.Arg345Gln	d5A2	Exon 7
39	2	Deletion	Frameshift	c.1042_1049del	348	320	p.Lys348Glyfs*32	d5A2	Exon 7
40	4	Point	Missense	c.1059C>G	353	325	p.Phe353Leu	d5A2	Exon 7
41	1	Point	Missense	c.1064C>T	355	327	p.Ala355Val	d5A2	Exon 7
342	4	Point	Missense	c.1106C>T	369	341	p.Ala369Val	d5A2	Exon 7
43	8	Point	Intronic	c.1118+5G>T	NA	NA	NA	Intron	Intron 7
42	2	Point	Intronic	c.1118+1278	NA	NA	NA	Intron	Intron 7
239	1	Point	Intronic	c.1119-12C>G	NA	NA	NA	Intron	Intron 7
44	2	Point	Missense	c.1128G>T	376	348	p.Arg376Ser	d5A2	Exon 8
45	2	Deletion	Frameshift	c.1135_1136delCA	379	351	p.His379Phefs*3	d5A2	Exon 8
46	5	Point	Missense	c.1160T>C	387	359	p.Ile387Thr	d5A2	Exon 8
341	1	Point	Missense	c.1181T>C	394	366	p.Val394Ala	d5A2	Exon 8
47	2	Point	Missense	c.1238T>C	413	385	p.Met413Thr	d5A2	Exon 8
48	11	Point	Missense	c.1258G>T	420	392	p.Gly420Cys	d5A2	Exon 8
340	1	Point	Missense	c.1265T>C	422	394	p.Ile422Thr	d5A2	Exon 8
49	2	Point	Silent	c.1281C>G	427	399	p.Val427Val	d5A2	Exon 8
51	1	Point	Intronic	c.1296+6T>C	NA	NA	NA	Intron	Intron 8
50	4	Point	Intronic	c.1296+268A>G	NA	NA	NA	Intron	Intron 8
52	5	Point	Intronic	c.1297-2A>G	NA	NA	NA	Intron	Intron 8
53	1	Deletion	Frameshift	Delexon9-10	NA	NA	NA	NA	Exon 9
339	2	Point	Missense	c.1300G>A	434	406	p.Val434Met	d5A2	Exon 9
54	2	Point	Missense	c.1309A>G	437	409	p.Asn437Asp	d5A2	Exon 9
55	7	Point	Missense	c.1321C>T	441	413	p.Arg441Cys	d5A2	Exon 9
56	3	Point	Missense	c.1334T>C	445	417	p.Ile445Thr	d5A2	Exon 9
57	5	Point	Missense	c.1340C>G	447	419	p.Pro447Arg	d5A2	Exon 9
338	3	Point	Missense	c.1391C>T	464	436	p.Thr464Ile	d5A2	Exon 9
58	1	Point	Missense	c.1411A>T	471	443	p.Met471Leu	d5A2	Exon 10
59	3	Point	Nonsense	c.1426C>T	476	448	p.Gln476*	d5A2	Exon 10
60	1	Point	Missense	c.1465G>C	489	461	p.Glu489Gln	d5A2	Exon 10
61	2	Point	Missense	c.1498T>G	500	472	p.Cys500Gly	d5A2	Exon 10
62	3	Deletion	Inframe	c.1516_1518delTAC	506	478	p.Tyr506del	d5A2	Exon 10
63	3	Point	Missense	c.1538G>A	513	485	p.Arg513Lys	d5A2	Exon 10
337	1	Point	Missense	c.1546G>T	516	488	p.Ala516Ser	d5A2	Exon 10
64	2	Point	Missense	c.1561G>A	521	493	p.Gly521Arg	d5A2	Exon 10
209	1	Point	Missense	c.1562G>A	521	493	p.Gly521Glu	d5A2	Exon 10
65	3	Deletion	Frameshift	c.1599delG	533	505	p.Arg533Serfs*41	d5A2	Exon 10
67	2	Deletion	Frameshift	c.1600delC	534	506	p.Arg534Lysfs*40	d5A2	Exon 10
66	3	Point	Nonsense	c.1600C>T	534	506	p.Arg534*	d5A2	Exon 10
68	66	Point	Missense	c.1601G>A	534	506	p.Arg534Gln	d5A2	Exon 10
69	5	Point	Missense	c.1611G>T	537	509	p.Gln537His	d5A2	Exon 10
221	1	Point	Missense	c.1619C>T	540	512	p.Ala540Val*	d5A2	Exon 10
336	2	Point	Missense	c.1624A>G	542	514	p.Ile542Val	d5A2	Exon 10
217	1	Point	Missense	c.1631A>G	544	516	p.Gln544Arg	d5A2	Exon 11
70	1	Point	Nonsense	c.1633C>T	545	517	p.Gln545*	d5A2	Exon 11
335	1	Point	Missense	c.1640T>C	547	519	p.Val547Ala	d5A2	Exon 11
71	1	Point	Missense	c.1652T>C	551	523	p.Phe551Ser	d5A2	Exon 11
72	2	Point	Missense	c.1654G>C	552	524	p.Asp552His	d5A2	Exon 11
212	1	Point	Missense	c.1667G>A	556	528	p.Ser556Asn	d5A2	Exon 11
334	1	Point	Missense	c.1671G>C	557	529	p.Trp557Cys	d5A2	Exon 11
73	4	Point	Missense	c.1673A>C	558	530	p.Tyr558Ser	d5A2	Exon 11
363	1	Point	Nonsense	c.1674C>A	558	530	p.Tyr558*	d5A2	Exon 11
361	1	Duplication	Frameshift	c.1830_1831dup	611	583	p.His611fs	d5A2	Exon 11
74	5	Point	Missense	c.1837T>C	613	585	p.Cys613Arg	d5A2	Exon 12
75	4	Duplication	Frameshift	c.1852dupC	618	590	p.Gln618Profs*3	d5A2	Exon 12
333	1	Point	Missense	c.1867A>G	623	595	p.Thr623Ala	d5A2	Exon 12
76	2	Point	Missense	c.1883G>A	628	600	p.Gly628Glu	d5A2	Exon 12
332	1	Point	Missense	c.1973T>C	658	630	p.Val658Ala	d5A2	Exon 12
240	1	Point	Intronic	c.1975+1G	NA	NA	NA	Intron	Intron 12
214	1	Deletion	Truncation	c.delexon13	NA	NA	NA	NA	Exon 13
77	5	Point	Intronic	c.1975+5G>A	NA	NA	NA	Intron	Intron 12
331	1	Point	Missense	c.1975G>A	659	631	p.Gly659Arg	d5A2	Exon 13
236	1	Point	Missense	c.1990A>G	664	636	p.Thr664Ala	d5A2	Exon 13
78	1	Duplication	Nonsense	c.1999_2002dupAATT	668	640	p.Ser668*	d5A2	Exon 13
79	1	Point	Missense	c.2032A>G	678	650	p.Lys678Glu	d5A2	Exon 13
330	1	Point	Missense	c.2037C>G	679	651	p.Phe679Leu	d5A2	Exon 13
329	2	Point	Missense	c.2042A>G	681	653	p.Asp681Gly	d5A2	Exon 13
80	1	Point	Missense	c.2051G>A	684	656	p.Cys684Tyr	d5a2	Exon 13
81	4	Point	Missense	c.2082G>C	694	666	p.Glu694Asp	d5a2	Exon 13
328	1	Point	Missense	c.2105C>T	702	674	p.Thr702Ile	d5a2	Exon 13
327	1	Point	Missense	c.2127G>A	709	681	p.Met709Ile	d5a2	Exon 13
326	1	Point	Missense	c.2129A>G	710	682	p.His710Arg	d5a2	Exon 13
325	1	Point	Missense	c.2135G>A	712	684	p.Arg712His	d5a2	Exon 13
82	5	Deletion	Frameshift	c.2149_2150delGA	717	689	p.Asp717*	NA	Exon 13
222	1	Point	Silent	c.2208C>T	736	708	p.Ile736Ile	d5a2	Exon 13
83	12	Point	Nonsense	c.2218C>T	740	712	p.Arg740*	d5B	Exon 13
324	4	Point	Missense	c.2222A>G	741	713	p.Asn741Ser	d5B	Exon 13
323	1	Point	Missense	c.2223C>A	741	713	p.Asn741Lys	d5B	Exon 13
235	2	Point	Missense	c.2232G>C	744	716	p.Leu744Phe	d5B	Exon 13
234	2	Point	Missense	c.2234A>G	745	717	p.Asn745Ser	d5B	Exon 13
223	1	Point	Silent	c.2235T>C	745	717	p.Asn745Asn	d5B	Exon 13
322	1	Point	Missense	c.2257C>A	753	725	p.Leu753Ile	d5B	Exon 13
224	1	Point	Silent	c.2289A>G	763	735	p.Glu763Glu	d5B	Exon 13
225	1	Point	Silent	c.2301A>G	767	739	p.Ser767Ser	d5B	Exon 13
321	1	Point	Missense	c.2339C>T	780	752	p.Pro780Leu	d5B	Exon 13
320	1	Point	Missense	c.2345A>C	782	754	p.Asn782Thr	d5B	Exon 13
84	2	Point	Missense	c.2350A>G	784	756	p.Ser784Gly	d5B	Exon 13
319	1	Point	Missense	c.2383C>G	795	767	p.Gln795Glu	d5B	Exon 13
213	3	Deletion	Frameshift	c.2390_2390delC	798	770	p.Pro798Leufs*13	d5B	Exon 13
85	2	Point	Nonsense	c.2401C>T	801	773	p.Gln801*	d5B	Exon 13
86	1	Point	Nonsense	c.2404C>T	802	774	p.Gln802*	d5B	Exon 13
318	5	Point	Missense	c.2425C>T	809	781	p.Pro809Ser	d5B	Exon 13
87	2	Deletion	Frameshift	c.2426delC	809	781	p.Pro809Hisfs*2	d5B	Exon 13
317	1	Point	Missense	c.2434C>T	812	784	p.His812Tyr	d5B	Exon 13
88	1	Point	Missense	c.2450A>C	817	789	p.Asn817Thr	d5B	Exon 13
89	2	Deletion	Frameshift	c.2539delA	847	819	p.Ile847Tyrfs*24	d5B	Exon 13
90	2	Point	Missense	c.2573A>G	858	830	p.Lys858Arg	d5B	Exon 13
91	2	Deletion	Frameshift	c.2574_2575delAA	860	832	p.Gln860Argfs*4	d5B	Exon 13
92	2	Point	Missense	c.2588C>G	863	835	p.Ala863Gly	d5B	Exon 13
93	1	Point	Missense	c.2594A>G	865	837	p.His865Arg	d5B	Exon 13
94	1	Deletion	Frameshift	c.2615delG	872	844	p.Arg872Lysfs*12	d5B	Exon 13
316	1	Point	Missense	c.2669T>C	890	862	p.Val890Ala	d5B	Exon 13
95	2	Deletion	Frameshift	c.2743_2744delAC	915	887	p.Thr915Trpfs*14	d5B	Exon 13
96	1	Point	Missense	c.2744C>G	915	887	p.Thr915Ser	d5B	Exon 13
315	1	Point	Missense	c.2752C>T	918	890	p.Pro918Ser	d5B	Exon 13
97	1	Point	Nonsense	c.2772G>A	924	896	p.Trp924*	d5B	Exon 13
98	1	Point	Missense	c.2773A>G	925	897	p.Lys925Glu	d5B	Exon 13
314	1	Point	Missense	c.2806C>G	936	908	p.Gln936Glu	d5B	Exon 13
233	2	Point	Missense	c.2837G>T	946	918	p.Arg946Ile	d5B	Exon 13
99	1	Point	Nonsense	c.2841G>A	947	919	p.Trp947*	d5B	Exon 13
210	5	Deletion	Frameshift	c.2851delT	951	923	p.Ser951Leufs*8	d5B	Exon 13
215	1	Deletion	Frameshift	c.2851delT	951	923	p.Ser923Leufs*8	d5B	Exon 13
100	19	Deletion	Frameshift	c.2862delT	955	927	p.Ser955Alafs*4	d5B	Exon 13
313	3	Point	Missense	c.2864G>T	955	927	p.Ser955Ile	d5B	Exon 13
312	3	Point	Missense	c.2906A>G	969	941	p.Asn969Ser	d5B	Exon 13
311	1	Point	Missense	c.2923C>T	975	947	p.Pro975Ser	d5B	Exon 13
101	3	Point	Missense	c.2938C>T	980	952	p.Arg980Cys	d5B	Exon 13
310	1	Point	Missense	c.2939G>T	980	952	p.Arg980Leu	d5B	Exon 13
102	2	Point	Nonsense	c.3037C>T	1013	985	p.Gln1013*	d5B	Exon 13
103	10	Point	Nonsense	c.3088C>T	1030	1002	p.Arg1030*	d5B	Exon 13
309	1	Point	Missense	c.3089G>A	1030	1002	p.Arg1030Gln	d5B	Exon 13
104	1	Deletion	Frameshift	c.3105_3106delGA	1036	1008	p.Lys1036Alafs*18	d5B	Exon 13
105	1	Insertion	Frameshift	c.3153_3154insCT	1052	1024	p.Arg1052Leufs*44	d5B	Exon 13
308	1	Point	Missense	c.3162A>C	1054	1026	p.Glu1054Asp	d5B	Exon 13
106	2	Deletion	Frameshift	c.3170_3174delACACA	1057	1029	p.Asp1057Ilefs*7	d5B	Exon 13
360	1	Duplication	Frameshift	c.3187dupA	1063	1035	p.Arg1063fs	d5B	Exon 13
307	2	Point	MIssense	c.3211C>T	1071	1043	p.His1071Tyr	d5B	Exon 13
306	2	Point	Missense	c.3221A>G	1074	1046	p.Asn1074Ser	d5B	Exon 13
305	1	Point	Missense	c.3269A>G	1090	1062	p.Asp1090Gly	d5B	Exon 13
220	2	Point	Nonsense	c.3279G>A	1093	1065	p.Trp1093*	d5B	Exon 13
107	3	Deletion	Frameshift	c.3296delA	1099	1071	p.Asp1099Alafs*72	d5B	Exon 13
304	2	Point	Missense	c.3307A>T	1103	1075	p.Asn1103Tyr	d5B	Exon 13
303	2	Point	Missense	c.3311C>A	1104	1076	p.Ser1104Tyr	d5B	Exon 13
302	3	Point	Missense	c.3402C>A	1134	1106	p.Asp1134Glu	d5B	Exon 13
108	2	Point	Nonsense	c.3409C>T	1137	1109	p.Gln1137*	d5B	Exon 13
301	3	Point	Missense	c.3438C>G	1146	1118	p.His1146Gln	d5B	Exon 13
300	3	Point	Missense	c.3442T>C	1148	1120	p.Ser1148Pro	d5B	Exon 13
299	1	Point	Missense	c.3446C>T	1149	1121	p.Ser1149Phe	d5B	Exon 13
298	3	Point	Missense	c.3455A>C	1152	1124	p.Glu1152Ala	d5B	Exon 13
109	1	Deletion	Frameshift	c.3472_3475delGAGT	1158	1130	p.Glu1158Metfs*12	d5B	Exon 13
110	16	Point	Nonsense	c.3481C>T	1161	1133	p.Arg1161*	d5B	Exon 13
111	3	Deletion	Frameshift	c.3510_3511delAA	1170	1142	p.Ile1170Metfs*10	d5B	Exon 13
232	1	Deletion	Nonsense	c.3576delG	1193	1165	p.Val1193*	d5B	Exon 13
112	4	Duplication	Frameshift	c.3615_3616dupTC	1206	1178	p.Pro1206Leufs*47	d5B	Exon 13
113	1	Deletion	Frameshift	c.3642_3643delTC	1215	1187	p.Pro1215Argfs*175	d5B	Exon 13
114	1	Deletion	Frameshift	c.3653_3656delTTCA	1218	1190	p.Ile1218Argfs*33	d5B	Exon 13
231	2	Point	Missense	c.3674C>A	1225	1197	p.Ala1225Asp	d5B	Exon 13
297	1	Point	Missense	c.3691A>C	1231	1203	p.Ile1231Leu	d5B	Exon 13
296	2	Point	Missense	c.3776C>A	1259	1231	p.Ser1259Tyr	d5B	Exon 13
115	1	Deletion	Frameshift	c.3799delC	1267	1239	p.Leu1267Phefs*21	d5B	Exon 13
116	1	Point	Missense	c.3845A>G	1282	1254	p.His1282Arg	d5B	Exon 13
295	3	Point	Missense	c.3851C>T	1284	1256	p.Thr1284Ile	d5B	Exon 13
294	5	Point	Missense	c.3853C>A	1285	1257	p.Leu1285Ile	d5B	Exon 13
293	1	Point	Missense	c.3865T>C	1289	1261	p.Phe1289Leu	d5B	Exon 13
117	1	Deletion	Frameshift	c.3899delA	1300	1272	p.His1300Leufs*2	d5B	Exon 13
118	5	Deletion	Frameshift	c.3924_3927delTCAG	1308	1280	p.Ser1308Argfs*24	d5B	Exon 13
292	3	Point	Missense	c.3949G>A	1317	1289	p.Gly1317Ser	d5B	Exon 13
291	1	Point	Missense	c.3952C>A	1318	1290	p.Gln1318Lys	d5B	Exon 13
290	1	Point	Missense	c.3961A>C	1321	1293	p.Ile1321Leu	d5B	Exon 13
119	31	Point	Missense	c.3980A>G	1327	1299	p.His1327Arg	d5B	Exon 13
230	2	Point	Missense	c.3995T>C	1332	1304	p.Leu1332Pro	d5B	Exon 13
289	1	Point	Missense	c.4000T>C	1334	1306	p.Phe1334Leu	d5B	Exon 13
288	1	Point	Missense	c.4013A>C	1338	1310	p.Asn1338Thr	d5B	Exon 13
287	1	Point	Missense	c.4082C>T	1361	1333	p.Pro1361Leu	d5B	Exon 13
216	1	Deletion	Frameshift	c.4096delC	1366	1338	p.Leu1366Phefs*3	d5B	Exon 13
286	1	Point	Missense	c.4145C>A	1382	1354	p.Thr1382Lys	d5B	Exon 13
285	1	Point	Missense	c.4172T>C	1391	1363	p.Met1391Thr	d5B	Exon 13
284	3	Point	Missense	c.4189C>T	1397	1369	p.Leu1397Phe	d5B	Exon 13
120	3	Deletion	Frameshift	c.4204delC	1403	1375	p.Thr1403Profs*7	d5B	Exon 13
121	2	Point	Missense	c.4210C>T	1404	1376	p.Pro1404Ser	d5B	Exon 13
229	2	Point	Missense	c.4297C>T	1433	1405	p.Leu1433Phe	d5B	Exon 13
283	3	Point	Missense	c.4309A>T	1437	1409	p.Thr1437Ser	d5B	Exon 13
282	2	Point	Missense	c.4333A>G	1445	1417	p.Thr1445Ala	d5B	Exon 13
281	1	Point	Missense	c.4346C>T	1449	1421	p.Pro1449Leu	d5B	Exon 13
280	1	Point	Missense	c.4356C>A	1452	1424	p.Ser1452Arg	d5B	Exon 13
122	1	Point	Nonsense	c.4357C>T	1453	1425	p.Gln1453*	d5B	Exon 13
279	1	Point	Missense	c.4405T>C	1469	1441	p.Ser1469Pro	d5B	Exon 13
278	3	Point	Missense	c.4589A>C	1530	1502	p.Glu1530Ala	d5a3	Exon 13
277	1	Point	Missense	c.4633C>A	1545	1517	p.Pro1545Thr	d5a3	Exon 13
276	1	Point	Missense	c.4634C>T	1545	1517	p.Pro1545Leu	d5a3	Exon 13
123	2	Point	Nonsense	c.4650C>G	1550	1522	p.Tyr1550*	NA	Exon 13
124	5	Duplication	Frameshift	c.4699_4702dupATTG	1568	1540	p.Ala1568Aspfs*21	NA	Exon 13
275	1	Point	Missense	c.4744T>A	1582	1554	p.Tyr1582Asn	dA3	Exon 13
125	1	Point	Missense	c.4745A>G	1582	1554	p.Tyr1582Cys	dA3	Exon 13
126	2	Deletion	Inframe	c.4746_4748delTTA	1583	1555	p.Tyr1583del	NA	Exon 13
226	2	Point	Nonsense	NA	1598	1570	p.Gln1598*	d5A3	Exon 14
127	3	Deletion	Frameshift	c.4798delG	1600	1572	p.Glu1600Lysfs*19	d5A3	Exon 14
274	2	Point	Missense	c.4835A>T	1612	1584	p.Asp1612Val	d5A3	Exon 14
273	1	Point	Missense	c.4862G>A	1621	1593	p.Arg1621Gln	d5A3	Exon 14
128	2	Point	Missense	c.4867T>G	1623	1595	p.Tyr1623Asp	d5A3	Exon 14
129	4	Point	Nonsense	c.4900C>T	1634	1606	p.Arg1634*	d5A3	Exon 14
130	12	Point	Missense	c.4906G>A	1636	1608	p.Glu1636Lys	d5A3	Exon 14
131	2	Deletion	Frameshift	c.4934delG	1645	1617	p.Gly1645Valfs*19	d5A3	Exon 14
132	1	Point	Missense	c.4937C>G	1646	1618	p.Pro1646Arg	d5A3	Exon 14
272	1	Point	Missense	c.4949C>T	1650	1622	p.Ala1650Val	d5A3	Exon 14
271	1	Point	Missense	c.4959T>A	1653	1625	p.Asp1653Glu	d5A3	Exon 14
133	1	Point	Missense	c.4976G>C	1659	1631	p.Arg1659Pro	d5A3	Exon 15
134	1	Point	Missense	c.5005T>C	1669	1641	p.Ser1669Pro	d5A3	Exon 15
135	2	Point	Missense	c.5009T>G	1670	1642	p.Leu1670Arg	d5A3	Exon 15
228	1	Deletion	Frameshift	c.5022delA	1674	1646	p.Gly1674Glyfs	d5A3	Exon 15
136	2	Duplication	Frameshift	c.5037dupA	1680	1652	p.Ser1680Ilefs*8	d5A3	Exon 15
137	2	Insertion	Frameshift	c.5052_5053insTTTC	1685	1657	p.Thr1685Phefs*4	d5A3	Exon 15
270	5	Point	Missense	c.5054C>G	1685	1657	p.Thr1685Ser	d5A3	Exon 15
138	2	Point	Missense	c.5090A>G	1697	1669	p.Asp1697Gly	d5A3	Exon 15
139	1	Deletion	Frameshift	c.5093delA	1698	1670	p.Asn1698Metfs*37	d5A3	Exon 15
269	1	Point	Missense	c.5144G>A	1715	1687	p.Arg1715Gln	d5A3	Exon 15
140	8	Point	Missense	c.5176C>T	1726	1698	p.Arg1726Trp	d5A3	Exon 15
268	2	Point	Missense	c.5177G>A	1726	1698	p.Arg1726Gln	d5A3	Exon 15
141	28	Point	Missense	c.5189A>G	1730	1702	p.Tyr1730Cys	d5A3	Exon 15
142	1	Point	Missense	c.5215G>T	1739	1711	p.Asp1739Tyr	d5A3	Exon 16
267	1	Point	Missense	c.5219T>G	1740	1712	p.Ile1740Ser	d5A3	Exon 15
143	5	Point	Missense	c.5227G>A	1743	1715	p.Gly1743Ser	d5A3	Exon 16
144	8	Point	Missense	c.5236G>A	1746	1718	p.Gly1746Ser	d5A3	Exon 16
266	4	Point	Missense	c.5245C>G	1749	1721	p.Leu1749Val	d5A3	Exon 16
265	5	Point	Missense	c.5265A>G	1755	1727	p.Ile1755Met	d5A3	Exon 16
145	1	Point	Missense	c.5290A>G	1764	1736	p.Met1764Val	d5A3	Exon 16
264	2	Point	Missense	c.5308G>A	1770	1742	p.Val1770Ile	d5A3	Exon 16
146	1	Point	Missense	c.5318T>A	1773	1745	p.Phe1773Tyr	d5A3	Exon 16
263	2	Point	Missense	c.5332G>C	1778	1750	p.Glu1778Gln	d5A3	Exon 16
362	1	Point	Nonsense	c.5365C>T	1789	1761	p.Arg1789*	d5A3	Exon 16
262	1	Point	Missense	c.5392G>A	1798	1770	p.Glu1798Lys	d5A3	Exon 16
147	3	Insertion	Frameshift	c.5403_5404insG	1802	1774	p.Ser1802Valfs*3	d5A3	Exon 16
148	4	Point	Missense	c.5408A>G	1803	1775	p.His1803Arg	d5A3	Exon 16
149	3	Point	Missense	c.5419G>A	1807	1779	p.Ala1807Thr	d5A3	Exon 16
150	3	Point	Intronic	c.5420-1G>T	NA	NA	NA	Intron	Intron 16
261	1	Point	Missense	c.5431A>T	1811	1783	p.Met1811Leu	d5A3	Exon 17
151	1	Point	Missense	c.5446C>T	1816	1788	p.Pro1816Ser	d5A3	Exon 17
260	3	Point	Missense	c.5460G>A	1820	1792	p.Met1820Ile	d5A3	Exon 17
152	1	Point	Nonsense	c.5474G>A	1825	1797	p.Trp1825*	d5A3	Exon 17
153	4	Point	Missense	c.5492T>C	1831	1803	p.Leu1831Pro	d5A3	Exon 17
154	4	Duplication	Frameshift	c.5520_5526dup	1843	1815	p.His1843Argfs*15	d5A3	Exon 17
155	7	Point	Missense	c.5521G>A	1841	1813	p.Val1841Met	d5A3	Exon 17
259	2	Point	Missense	c.5534A>G	1845	1817	p.His1845Arg	d5A3	Exon 17
156	3	Point	Missense	c.5546T>C	1849	1821	p.Leu1849Ser	d5A3	Exon 17
258	3	Point	Missense	c.5558G>T	1853	1825	p.Gly1853Val	d5A3	Exon 17
157	2	Deletion	Frameshift	c.5592delT	1864	1836	p.Leu1864Cysfs*10	d5A3	Exon 17
227	2	Point	Missense	c.5594T>G	2004	1976	p.Leu1865Arg	d5C1	Exon 17
257	1	Point	Missense	c.5621T>C	1874	1846	p.Met1874Thr	d5A3	Exon 17
158	2	Point	Nonsense	c.5630C>A	1877	1849	p.Ser1877*	d5A3	Exon 18
159	1	Point	Missense	c.5639G>T	1880	1852	p.Gly1880Val	d5A3	Exon 18
160	1	Point	Nonsense	c.5645G>A	1882	1854	p.Trp1882*	d5A3	Exon 18
161	1	Point	Nonsense	c.5646G>A	1882	1854	p.Trp1882*	d5A3	Exon 18
256	1	Point	Missense	c.5668G>A	1890	1862	p.Glu1890Lys	d5A3	Exon 18
162	1	Point	Missense	c.5683G>C	1895	1867	p.Gly1895Arg	d5A3	Exon 18
163	3	Point	Missense	c.5693C>T	1898	1870	p.Thr1898Met	d5A3	Exon 18
164	1	Point	Intronic	c.5717-12T>A	NA	NA	NA	Intron	Intron 18
255	1	Point	Missense	c.5723G>A	1908	1880	p.Arg1908Lys	d5C1	Exon 19
254	1	Point	Missense	c.5729C>T	1910	1882	p.Pro1910Leu	d5C1	Exon 19
165	4	Deletion	Frameshift	c.5752delA	1918	1890	p.Ile1918Tyrfs*19	d5C1	Exon 19
166	2	Point	Nonsense	c.5764C>T	1922	1894	p.Gln1922*	d5C1	Exon 19
167	1	Point	Missense	c.5765A>C	1922	1894	p.Gln1922Pro	d5C1	Exon 19
253	1	Point	Missense	c.5780A>G	1927	1899	p.Glu1927Gly	d5C1	Exon 19
168	3	Point	Intronic	c.5788+3A>T	NA	NA	NA	Intron	Intron 19
169	2	Indel	Intronic	c.5789-12_5789-11delinsAA	NA	NA	NA	Intron	Intron 19
170	1	Point	Intronic	c.5789-5T>G	NA	NA	NA	Intron	Intron 19
171	10	Point	Missense	c.5789G>A	1930	1902	p.Gly1930Asp	d5C1	Exon 20
172	2	Point	Nonsense	c.5807T>A	1936	1908	p.Leu1936*	d5C1	Exon 20
173	3	Point	Missense	c.5842T>C	1948	1920	p.Trp1948Arg	d5C1	Exon 20
174	2	Point	Missense	c.5900T>A	1967	1939	p.Met1967Lys	d5C1	Exon 21
252	1	Point	Missense	c.5923G>C	1975	1947	p.Gly1975Arg	d5C1	Exon 21
251	1	Point	Missense	c.5933C>T	1978	1950	p.Thr1978Ile	d5C1	Exon 21
250	1	Point	Missense	c.5941G>T	1981	1953	p.Ala1981Ser	d5C1	Exon 21
249	1	Point	Missense	c.5959T>C	1987	1959	p.Ser1987Pro	d5C1	Exon 21
175	1	Point	Missense	c.5993G>T	1998	1970	p.Ser1998Ile	d5C1	Exon 21
248	1	Point	Missense	c.6008A>G	2003	1975	p.Asn2003Ser	d5C1	Exon 21
176	3	Point	Missense	c.6010T>C	2004	1976	p.Trp2004Arg	d5C1	Exon 21
177	5	Point	Missense	c.6025G>A	2009	1981	p.Gly2009Arg	d5C1	Exon 21
178	9	Deletion	Inframe	c.6027_6032delGAACAG	2010	1982	p.Asn2010_Ser2011del	d5C1	Exon 21
179	4	Duplication	Frameshift	6028_6032dupAACAG	2011	1983	p.Ser2011Argfs*7	d5C1	Exon 21
180	2	Point	Intronic	c.6048+1G>A	NA	NA	NA	Intron	Intron 21
181	1	Point	Missense	c.6100C>G	2034	2006	p.Pro2034Ala	d5C1	Exon 22
182	2	Point	Nonsense	c.6139C>T	2047	2019	p.Arg2047*	d5C1	Exon 22
183	3	Deletion	Frameshift	c.6157_6161delACCCT	2053	2025	p.Thr2053Serfs*8	d5C1	Exon 22
247	2	Point	Missense	c.6164G>A	2055	2027	p.Arg2055Gln	d5C1	Exon 22
184	6	Point	Nonsense	c.6175C>T	2059	2031	p.Gln2059*	d5C1	Exon 22
185	6	Point	Missense	c.6179G>A	2060	2032	p.Gly2060Asp	d5C1	Exon 22
186	2	Point	Missense	c.6182G>A	2061	2033	p.Cys2061Tyr	d5C1	Exon 22
187	2	Point	Missense	c.6197G>A	2066	2038	p.Cys2066Tyr	d5C2	Exon 23
188	2	Deletion	Frameshift	c.6212delG	2071	2043	p.Gly2071Valfs*7	d5C2	Exon 23
189	4	Point	Missense	c.6212G>T	2071	2043	p.Gly2071Val	d5C2	Exon 23
246	1	Point	Missense	c.6241C>G	2081	2053	p.Gln2081Glu	d5C2	Exon 23
190	2	Point	Nonsense	c.6257C>A	2086	2058	p.Ser2086*	d5C2	Exon 23
192	1	Point	Missense	c.6293C>T	2098	2070	p.Pro2098Leu	d5C2	Exon 23
191	1	Point	Missense	c.6293C>G	2098	2070	p.Pro2098Arg	d5C2	Exon 23
245	1	Point	Missense	c.6298C>T	2100	2072	p.Arg2100Cys	d5C2	Exon 23
193	15	Point	Missense	c.6304C>T	2102	2074	p.Arg2102Cys	d5C2	Exon 23
194	9	Point	Missense	c.6305G>A	2102	2074	p.Arg2102His	d5C2	Exon 23
195	9	Point	Missense	c.6320G>T	2107	2079	p.Gly2107Val	d5C2	Exon 23
238	1	Point	Missense	NA	2114	2086	p.Ala2114Asp	d5C2	Exon 23
196	2	Point	Missense	c.6376G>T	2126	2098	p.Asp2126Tyr	d5C2	Exon 24
244	1	Point	Missense	c.6401C>T	2134	2106	p.Thr2134Met	d5C2	Exon 24
197	4	Point	Missense	c.6419G>A	2140	2112	p.Gly2140Asp	d5C2	Exon 24
198	16	Point	Missense	c.6443T>C	2148	2120	p.Met2148Thr	d5C2	Exon 24
199	1	Point	Missense	c.6492G>C	2164	2136	p.Trp2164Cys	d5C2	Exon 24
200	2	Deletion	Frameshift	c.6523delG	2175	2147	p.Asp2175Thrfs*14	d5C2	Exon 24
201	2	Deletion	Intronic	c.6528+1_+4delGTAG	2148	2120	p.Met2148Ilefs*12	d5C2	Intron 24
202	3	Point	Missense	c.6528G>C	2176	2148	p.Lys2176Asn	d5C2	Exon 24
211	1	Point	Intronic	c.6529-1G>T	NA	NA	NA	Intron	Intron 24
243	1	Point	Missense	c.6554A>G	2185	2157	p.Lys2185Arg	d5C2	Exon 25
203	1	Point	Missense	c.6584C>T	2195	2167	p.Pro2195Leu	d5C2	Exon 25
242	2	Point	Missense	c.6589A>G	2197	2169	p.Ile2197Val	d5C2	Exon 25
204	4	Point	Missense	c.6604C>T	2202	2174	p.Arg2202Cys	d5C2	Exon 25
205	1	Point	Missense	c.6605G>T	2202	2174	p.Arg2202Leu	d5C2	Exon 25
241	1	Point	Missense	c.6629A>T	2210	2182	p.Gln2210Leu	d5C2	Exon 25
206	1	Point	Missense	c.6649G>A	2217	2189	p.Glu2217Lys	d5C2	Exon 25
207	1	Point	Missense	c.6653T>C	2218	2190	p.Leu2218Pro	d5C2	Exon 25
208	7	Point	Missense	c.6665A>G	2222	2194	p.Asp2222Gly	d5C2	Exon 25

Factor V Gene (F5)

Variant Database

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

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

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