Factor X Variant Database

Variant ID	No. of Cases	Type	Effect	Mutation (cDNA-HGVS)	Amino Acid HGVS	Amino Acid Legacy	Protein Change (HGVS)	Domain	Location
175	0	Point	Missense	c.-223T>A	-	-		Undefined
174	1	Point	Missense	c.-221C>A	-	-		Undefined
173	6	Point	Missense	c.-40C>T	-	-		Undefined
171	1	Deletion		Undefined cDNA - deletion (Exon 2)	-	-		Gla domain	Exon 2
157	4	Deletion		Undefined cDNA - deletion (Exons 1-8)	-	-		Undefined	Exons 1-8
150	3	Insertion	Frameshift	Undefined cDNA - insertion	-	-		UTR 3	Flanking UTR 3
143	0	Point	Splice site	IVS7-1G>A	-	-		Splice Site	Intron 7
168	0	Point	Splice site	IVS1-1G>C	-	-		Splice Site	Intron 1
154	2	Deletion		Undefined cDNA - deletion (Exon 6)	-	-		Activation peptide	Exon 6
158	4	Deletion		Undefined cDNA - deletion (Exons 7-8)	-	-		Serine protease	Exons 7-8
151	5	Point	Splice site	IVS5+1G>A	-	-		Splice Site	Intron 5
144	1	Point	Splice site	IVS1+3A>T	-	-		Splice Site	Intron 1
155	2	Deletion		Undefined cDNA - deletion (Exon 1)	-	-		Pre-pro leader	Exon 1
148	3	Deletion	Inframe	Undefined cDNA - deletion (Intron 4)	-	-		Intronic Region	Intron 4
141	2	Deletion		Undefined cDNA - deletion (Exons7-8)	-	-		Serine protease	Exons 7-8
145	1	Point	Splice site	IVS2-3T>G	-	-		Splice Site	Intron 2
156	2	Deletion		Undefined cDNA - deletion (Exons 1-6)	-	-		Undefined	Exons 1-6
149	3	Deletion	Frameshift	c.1430_1434delATGCC	-	-		Serine protease	Exon 8
142	1	Point	Splice site	IVS1+1G>A	-	-		Splice Site	Intron 1
178	1	Deletion	Inframe	Undefined cDNA - deletion	-	-		Undefined
164	0	Deletion	Frameshift	c.8_9delGC	-	-		Pre-pro leader	Exon 1
169	1	Point	Splice site	c.70+2T>G	-	-		Splice Site
170	1	Point	Splice site	c.70+4A>G	-	-		Splice Site
176	1	Point	Splice site	c.71-1G>C	-	-		Splice Site
165	1	Deletion	Frameshift	c.139delG	-	-		Gla domain	Exon 2
159	3	Deletion	Frameshift	c.162_165delAAGA	-	-	p.Glu54GlufsX59	Gla domain	Exon 2
172	1	Point	Splice site	c.257-1G>C	-	-		Splice Site
166	3	Deletion	Frameshift	c.302delG	-	-		EGF-1	Exon 4
160	0	Deletion	Frameshift	c.514delT	-	-	p.Cys172ValfsTer95	Linker	Exon 6
153	1	Deletion	Inframe	c.526_558del	-	-	p.Thr176_Gln186	Activation peptide	Exon 6
146	7	Deletion	Frameshift	c.556delC	-	-		Activation peptide	Exon 6
140	1	Deletion	Frameshift	c.813delC	-	-		Serine protease	Exon 7
162	3	Insertion	Frameshift	c.882_883dupC	-	-		Serine protease	Exon 8
167	1	Deletion	Frameshift	c.1141delG	-	-		Serine protease	Exon 8
147	3	Deletion	Frameshift	c.1151_1167delACGTGGACCGCAACAG	-	-	p.Tyr384LeufsTer57	Serine protease	Exon 8
163	5	Insertion	Frameshift	c.1402_1403dupA	-	-		Serine protease	Exon 8
1	3	Point	Missense	c.1A>G	1	-40	p.Met1Val	Pre-pro leader	Exon 1
2	0	Point	Missense	c.19C>A	7	-34	p.Leu7Ile	Pre-pro leader	Exon 1
3	2	Point	Missense	c.22G>T	8	-33	p.Val8Phe	Pre-pro leader	Exon 1
4	0	Point	Missense	Undefined cDNA (L9P)	9	-32	p.Leu9Pro	Pre-pro leader	Exon 1
5	4	Point	Missense	c.33T>G	11	-30	p.Ser11Arg	Pre-pro leader	Exon 1
6	2	Point	Missense	Undefined cDNA (A12P)	12	-29	p.Ala12Pro	Pre-pro leader	Exon 1
7	4	Point	Missense	c.44C>A	15	-26	p.Ala15Asp	Pre-pro leader	Exon 1
8	21	Point	Missense	c.61G>A	21	-20	p.Gly21Arg	Pre-pro leader	Exon 1
179	0	Point	Missense	c.90G>C	30	-11	p.Gln30His	Intronic Region
9	1	Point	Missense	c.116C>T	39	-2	p.Thr39Met	Pre-pro leader	Exon 2
10	6	Point	Missense	c.119G>C	40	-1	p.Arg40Thr	Pre-pro leader	Exon 2
11	4	Point	Missense	c.128C>G	43	3	p.Ser43Cys	Gla domain	Exon 2
12	0	Point	Missense	Undefined cDNA (E47K)	47	7	p.Glu47Lys	Gla domain	Exon 2
13	2	Point	Missense	c.140A>G	47	7	p.Glu47Gly	Gla domain	Exon 2
15	1	Point	Missense	c.151G>A	51	11	p.Gly51Arg	Gla domain	Exon 2
14	3	Point	Missense	c.152G>T	51	11	p.Gly51Val	Gla domain	Exon 2
16	16	Point	Missense	c.160G>A	54	14	p.Glu54Lys	Gla domain	Exon 2
17	1	Point	Missense	c.161A>G	54	14	p.Glu54Gly	Gla domain	Exon 2
18	3	Point	Missense	c.166G>A	56	16	p.Glu56Lys	Gla domain	Exon 2
19	1	Point	Missense	c.169T>C	57	17	p.Cys57Arg	Gla domain	Exon 2
20	1	Point	Missense	c.170G>T	57	17	p.Cys57Phe	Gla domain	Exon 2
21	4	Point	Missense	c.176A>C	59	19	p.Glu59Ala	Gla domain	Exon 2
22	0	Point	Missense	c.193G>A	65	25	p.Glu65Lys	Gla domain	Exon 2
23	0	Point	Missense	c.198G>C	66	26	p.Glu66Asp	Gla domain	Exon 2
24	0	Point	Missense	Undefined cDNA (R68C)	68	28	p.Arg68Cys	Gla domain	Exon 2
25	4	Point	Missense	c.205G>A	69	29	p.Glu69Lys	Gla domain	Exon 2
26	9	Point	Missense	c.212T>C	71	31	p.Phe71Ser	Gla domain	Exon 2
28	0	Point	Missense	Undefined cDNA (E72D)	72	32	p.Glu72Asp	Gla domain	Exon 2
27	0	Point	Missense	c.214G>C	72	32	p.Glu72Gln	Gla domain	Exon 2
29	1	Point	Missense	c.268T>C	90	50	p.Cys90Arg	EGF-1	Exon 4
30	15	Point	Missense	Undefined cDNA (E91K)	91	51	p.Glu91Lys	EGF-1	Exon 4
31	0	Point	Missense	c.290A>C	97	57	p.Asn97Thr	EGF-1	Exon 4
32	1	Point	Missense	c.295G>C	99	59	p.Gly99Arg	EGF-1	Exon 4
33	0	Point	Nonsense	Undefined cDNA (C101*)	101	61	p.Cys101*	EGF-1	Exon 4
34	3	Point	Missense	c.307G>C	103	63	p.Asp103His	EGF-1	Exon 4
35	2	Point	Nonsense	c.349G>T	117	77	p.Glu117*	EGF-1	Exon 4
36	4	Point	Missense	c.353G>A	118	78	p.Gly118Asp	EGF-1	Exon 4
38	3	Point	Missense	c.361T>C	121	81	p.Cys121Arg	EGF-1	Exon 4
37	2	Point	Missense	c.362G>A	121	81	p.Cys121Tyr	EGF-1	Exon 4
39	5	Point	Missense	c.400G>A	134	94	p.Gly134Arg	EGF-2	Exon 5
40	2	Point	Missense	c.405C>A	135	95	p.Asp135Glu	EGF-2	Exon 5
41	0	Point	Missense	c.413A>T	138	98	p.Gln138Leu	EGF-2	Exon 5
42	12	Point	Missense	c.424G>A	142	102	p.Glu142Lys	EGF-2	Exon 5
43	2	Point	Nonsense	c.430C>T	144	104	p.Gln144*	EGF-2	Exon 5
44	2	Point	Missense	c.446G>A	149	109	p.Cys149Tyr	EGF-2	Exon 5
46	1	Point	Missense	Undefined cDNA (C151R)	151	111	p.Cys151Arg	EGF-2	Exon 5
45	1	Point	Missense	c.452G>A	151	111	p.Cys151Tyr	EGF-2	Exon 5
180	0	Point	Missense	c.454G>A	152	112	p.Ala152Thr	EGF-2	Exon 5
47	0	Point	Missense	c.460G>A	154	114	p.Gly154Arg	EGF-2	Exon 5
48	1	Point	Nonsense	Undefined cDNA (Y170*)	170	130	p.Tyr170*	Linker	Exon 6
161	0	Point	Missense	c.516T>G	172	132	p.Cys172Trp	Linker	Exon 6
49	1	Point	Missense	c.517G>T	173	133	p.Gly173Trp	Linker	Exon 6
50	0	Point	Missense	c.517G>A	173	133	p.Gly173Arg	Linker	Exon 6
51	1	Point	Nonsense	c.523T>C	175	135	p.Gln175*	Linker	Exon 6
52	0	Point	Missense	c.535C>T	179	139	p.Arg179Cys	Linker	Exon 6
53	2	Point	Missense	c.535C>A	179	139	p.Arg179Ser	Linker	Exon 6
54	0	Point	Missense	Undefined cDNA (R182M)	182	142	p.Arg182Met	Linker	Exon 6
55	0	Point	Missense	c.574G>C	192	152	p.Gly192Arg	Activation peptide	Exon 6
56	0	Deletion	Frameshift	Undefined cDNA - deletion (Y203del)	203	163	p.Tyr203del	Activation peptide	Exon 6
57	5	Point	Missense	c.631A>C	211	171	p.Thr211Pro	Activation peptide	Exon 6
58	3	Point	Missense	c.706G>A	236	196	p.Val236Met	Serine Protease	Exon 6
59	10	Point	Missense	c.730G>A	244	204	p.Gly244Arg	Serine Protease	Exon 6
60	0	Point	Missense	c.731G>A	244	204	p.Gly244Glu	Serine Protease	Exon 6
61	1	Point	Missense	c.736T>C	246	206	p.Cys246Arg	Serine Protease	Exon 6
62	1	Point	Missense	c.752T>C	251	211	p.Leu251Pro	Serine protease	Exon 7
63	20	Point	Missense	c.785G>A	262	222	p.Gly262Asp	Serine protease	Exon 7
65	0	Point	Missense	c.787G>A	263	223	p.Gly263Arg	Serine protease	Exon 7
64	0	Point	Missense	c.788G>T	263	223	p.Gly263Val	Serine protease	Exon 7
66	8	Point	Silent	c.792C>T	264	224	p.Thr264=	Serine protease	Exon 7
67	0	Point	Missense	Undefined cDNA (T273M)	273	233	p.Thr273Met	Serine protease	Exon 7
68	0	Point	Missense	Undefined cDNA (A274S)	274	234	p.Ala274Ser	Serine protease	Exon 7
69	1	Point	Missense	Undefined cDNA (A275T)	275	235	p.Ala275Thr	Serine protease	Exon 7
70	2	Point	Missense	c.824C>T	275	235	p.Ala275Val	Serine protease	Exon 7
71	1	Point	Missense	c.854A>T	285	245	p.Lys285Met	Serine protease	Exon 7
72	1	Point	Missense	c.856G>A	286	246	p.Val286Met	Serine protease	Exon 7
73	4	Point	Missense	c.863T>C	288	248	p.Val288Ala	Serine protease	Exon 7
74	3	Point	Missense	c.865G>C	289	249	p.Gly289Arg	Serine protease	Exon 7
75	2	Point	Missense	c.871C>T	291	251	p.Arg291Trp	Serine protease	Exon 8
76	0	Point	Silent	c.894C>T	298	258	p.Gly298=	Serine protease	Exon 8
77	3	Point	Silent	Undefined cDNA (G299=)	299	259	p.Gly299=	Serine protease	Exon 8
78	3	Point	Missense	c.910G>A	304	264	p.Glu304Lys	Serine protease	Exon 8
79	0	Deletion	Inframe	Undefined cDNA - deletion (I309del)	309	269	p.Ile309del	Serine protease	Exon 8
80	1	Point	Missense	c.955T>C	319	279	p.Tyr319His	Serine protease	Exon 8
81	0	Point	Missense	Undefined cDNA (F321L)	321	281	p.Phe321Leu	Serine protease	Exon 8
82	15	Point	Missense	c.964G>A	322	282	p.Asp322Asn	Serine protease	Exon 8
83	0	Point	Missense	Undefined cDNA (I323M)	323	283	p.Ile323Met	Serine protease	Exon 8
84	1	Point	Missense	c.979C>T	327	287	p.Arg327Trp	Serine protease	Exon 8
85	9	Point	Missense	c.1012G>A	338	298	p.Val338Met	Serine protease	Exon 8
86	2	Point	Missense	c.1015G>A	339	299	p.Ala339Thr	Serine protease	Exon 8
87	2	Point	Missense	c.1030C>T	344	304	p.Pro344Ser	Serine protease	Exon 8
88	0	Point	Missense	c.1036C>T	346	306	p.Arg346Cys	Serine protease	Exon 8
89	0	Point	Missense	Undefined cDNA (W348L)	348	308	p.Trp348Leu	Serine protease	Exon 8
90	3	Point	Missense	c.1048G>A	350	310	p.Glu350Lys	Serine protease	Exon 8
91	1	Point	Missense	c.1061T>G	354	314	p.Met354Arg	Serine protease	Exon 8
92	1	Point	Nonsense	c.1066C>T	356	316	p.Gln356*	Serine protease	Exon 8
93	7	Point	Missense	c.1073C>T	358	318	p.Thr358Met	Serine protease	Exon 8
94	5	Point	Missense	c.1085G>A	362	322	p.Ser362Asn	Serine protease	Exon 8
95	3	Point	Missense	c.1087G>A	363	323	p.Gly363Ser	Serine protease	Exon 8
96	2	Point	Missense	Undefined cDNA (F364L)	364	324	p.Phe364Leu	Serine protease	Exon 8
97	1	Point	Missense	c.1096C>T	366	326	p.Arg366Cys	Serine protease	Exon 8
98	0	Point	Missense	c.1097G>A	366	326	p.Arg366His	Serine protease	Exon 8
99	0	Point	Missense	Undefined cDNA (E369G)	369	329	p.Glu369Gly	Serine protease	Exon 8
100	0	Point	Missense	c.1105G>A	369	329	p.Glu369Lys	Serine protease	Exon 8
177	1	Point	Missense	c.1107G>T	369	329	p.Glu369Asp	Serine protease	Exon 8
101	1	Point	Nonsense	c.1108A>T	370	330	p.Lys370*	Serine protease	Exon 8
102	14	Point	Missense	c.1120C>T	374	334	p.Ser374Pro	Serine protease	Exon 8
103	1	Point	Missense	c.1145T>C	382	342	p.Val382Ala	Serine protease	Exon 8
104	25	Point	Missense	c.1147C>T	383	343	p.Pro383Ser	Serine protease	Exon 8
105	0	Point	Missense	c.1151A>G	384	344	p.Tyr384Cys	Serine protease	Exon 8
106	0	Point	Missense	c.1151A>T	384	344	p.Tyr384Phe	Serine protease	Exon 8
107	4	Point	Nonsense	c.1152C>A	384	344	p.Tyr384*	Serine protease	Exon 8
109	1	Point	Missense	c.1159C>T	387	347	p.Arg387Cys	Serine protease	Exon 8
108	0	Point	Missense	c.1160G>A	387	347	p.Arg387His	Serine protease	Exon 8
110	3	Point	Missense	c.1169G>T	390	350	p.Cys390Phe	Serine protease	Exon 8
111	0	Point	Missense	Undefined cDNA (S393Y)	393	353	p.Ser393Tyr	Serine protease	Exon 8
112	0	Point	Missense	c.1180A>C	394	354	p.Ser394Arg	Serine protease	Exon 8
113	2	Point	Missense	c.1187T>G	396	356	p.Phe396Cys	Serine protease	Exon 8
114	1	Point	Missense	Undefined cDNA (M402T)	402	362	p.Met402Thr	Serine protease	Exon 8
115	0	Point	Missense	Undefined cDNA (F403I)	403	363	p.Phe403Ile	Serine protease	Exon 8
116	5	Point	Missense	c.1210T>C	404	364	p.Cys404Arg	Serine protease	Exon 8
117	14	Point	Missense	c.1216G>A	406	366	p.Gly406Ser	Serine protease	Exon 8
152	3	Deletion	Inframe	Undefined cDNA - deletion (D408del)	408	-	p.Asp408del	Serine protease	Exon 8
118	0	Point	Missense	c.1222G>A	408	368	p.Asp408Asn	Serine protease	Exon 8
119	1	Point	Nonsense	c.1231C>T	411	371	p.Gln411*	Serine protease	Exon 8
120	1	Point	Missense	c.1247A>T	416	376	p.Gln416Leu	Serine protease	Exon 8
129	1	Point	Missense	c.1253A>G	418	378	p.Asp418Gly	Serine protease	Exon 8
121	0	Point	Missense	Undefined cDNA (S419K)	419	379	p.Ser419Lys	Serine protease	Exon 8
122	10	Point	Missense	c.1258G>A	420	380	p.Gly420Arg	Serine protease	Exon 8
123	13	Point	Missense	c.1262G>A	421	381	p.Gly421Asp	Serine protease	Exon 8
124	4	Point	Missense	c.1265C>T	422	382	p.Pro422Leu	Serine protease	Exon 8
125	1	Point	Missense	c.1269C>G	423	383	p.His423Gln	Serine protease	Exon 8
127	4	Point	Missense	c.1270G>T	424	384	p.Val424Phe	Serine protease	Exon 8
126	4	Point	Missense	c.1271T>C	424	384	p.Val424Ala	Serine protease	Exon 8
128	1	Point	Missense	c.1276C>T	426	386	p.Arg426Cys	Serine protease	Exon 8
130	4	Point	Missense	c.1303G>A	435	395	p.Gly435Ser	Serine protease	Exon 8
131	0	Point	Missense	c.1324G>A	442	402	p.Gly442Ser	Serine protease	Exon 8
132	3	Point	Missense	c.1332G>A	444	404	p.Ala444Thr	Serine protease	Exon 8
133	5	Point	Missense	c.1335C>G	445	405	p.Arg445Gly	Serine protease	Exon 8
134	10	Point	Missense	c.1344G>C	448	408	p.Lys448Asn	Serine protease	Exon 8
135	1	Point	Missense	c.1348G>A	450	410	p.Gly450Arg	Serine protease	Exon 8
136	6	Point	Missense	c.1351A>T	451	411	p.Ile451Phe	Serine protease	Exon 8
137	1	Point	Missense	c.1381T>C	461	421	p.Trp461Arg	Serine protease	Exon 8
138	1	Point	Nonsense	c.1382G>A	461	421	p.Trp461*	Serine protease	Exon 8
139	1	Point	Missense	c.1393T>C	465	425	p.Ser465Pro	Serine protease	Exon 8

Factor X Gene (F10)

Variant Database

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

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

Factor X Gene (F10)

Variant Database

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

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

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