List of all CBS mutations

To filter and limit the data displayed within a CBS mutations table,
enter your keyword into first row and press ENTER.

cDNA NT change	Gene NT change	Protein change	Exon/Intron	Mutation type	Restriction site	CpG	#
833 T>C	9122 T>C	I278T	EX8	miss	Bsr I+		153
572 C>T	6714 C>T	T191M	EX5	miss	FokI+	CG>TG	149
919 G>A	9208 G>A	G307S	EX8	miss	Alu I+	CG>CA	88
1006 C>T	9851 C>T	R336C	EX9	miss		CG>TG; *	83
IVS11-2 A>C	13217 A>C	del ex 12	IN11	del	Msp I+		25
969 G>A	9814 G>A	W323X	EX9	nons		CG>TG	20
1330 G>A	13325 G>A	D444N	EX12	miss	Taq I-	CG>CA	17
374 G>A	5873 G>A	R125Q	EX3	miss	Pst I+	CG>CA	14
430 G>A	5929 G>A	E144K	EX3	miss	Taq I-	CG>CA	12
1058 C>T	11664 C>T	T353M	EX10	miss		CG>TG	12
797 G>A	8265 G>A	R266K	EX7	miss			10
1566delG	18220delG	fs, stop at aa 540	EX16	del	NciI-		10
785 C>T	8253 C>T	T262M	EX7	miss		CG>TG	10
341 C>T	5840 C>T	A114V	EX3	miss	Mae II+	CG>TG	10
494 G>A	6541 G>A	C165Y	EX4	miss	BsoF I-		8
362 G>A	5861 G>A	R121H	EX3	miss		CG>CA; *	7
904 G>A	9193 G>A	E302K	EX8	miss		CG>CA	6
253 G>A	3620 G>A	G85R	EX2	miss		CG>CA	6
1039 G>A	9884 G>A	G347S	EX9	miss		CG>CA	6
302 T>C	3669 T>C	L101P	EX2	miss			6
676 G>A	6932 G>A	A226T	EX6	miss		CG>CA	5
1321 A>T	13316 A>T	K441X	EX12	nons			5
457 G>A	6504 G>A	G153R	EX4	miss			5
451 G>A	5950 G>A	G151R	EX3	miss		CG>CA	5
770 C>T	8238 C>T	T257M	EX7	miss	Nla III+	CG>TG	5
862 G>A	9151 G>A	A288T	EX8	miss		CG>CA	5
700 G>A	6956 G>A	D234N	EX6	miss		CG>CA	5
959 T>C	9804 T>C	V320A	EX9	miss			5
373 C>T	5872 C>T	R125W	EX3	miss	Aci I -	CG>TG	5
19insC	19insC	fs, stop at aa 36	EX1	ins			5
1007 G>A	9852 G>A	R336H	EX9	miss	Sph I-	CG>CA; *	5
IVS1+1G>A	210 G>A	del ex1 or 153del57	IN1	del			5
346 G>A	5845 G>A	G116R	EX3	miss		CG>CA	5
146 C>T	146 C>T	P49L	EX1	miss	Dde I+	CG>TG	5
361 C>T	5860 C>T	R121C	EX3	miss		CG>TG; *	5
770 C>T	8238 C>T	T257M	EX7	miss		CG>TG	4
1105 C>T	11711 C>T	R369C	EX10	miss	Hha I-	CG>TG; *	4
1111 G>A	11717 G>A	V371M	EX10	miss		CG>CA	3
684 C>A	6940 C>A	N228K	EX6	miss			3
194 A>G	194 A>G	H65R	EX1	miss			3
1013 T>C	9858 T>C	L338P	EX9	miss	PvuI+		3
533 del 18	n.d.	del aa 179-184	n.d.	del			3
1046 G>A	11652 G>A	S349N	EX10	miss			3
456 C>G	6503 C>G	I152M	EX4	miss	Sau3A I-		3
1316 G>A	13311 G>A	R439Q	EX12	miss	EcoR II+, Msp I-	CG>CA	3
841 C>T	9130 C>T	D281N	EX8	miss	BamH I-		3
325 T>C	5824 T>C	C109R	EX3	miss			3
824 G>A	8292 G>A	C275Y	EX7	miss			3
304 A>C; IVS4-29del129	3671 A>C 6643 del29	K102Q; del EX5	EX2; IVS4	miss	PstI+		3
442 G>A	5941 G>A	G148R	EX3	miss	Msp I-,BstN I+	CG>CA	3
463 G>A	6510 G>A	A155T	EX4	miss	Sau96 I+		3
694 C>G	6950 C>G	H232D	EX6	miss			3
1136 G>A	11742 G>A	R379Q	EX10	miss		CG>CA	2
683 A>G	6939 A>G	N228S	EX6	miss			2
689delT	6945delT	L230RfsX39	EX6	del	Msp I+		2
IVS9+1 G>T	9885 G>T	del ex 9, T318fsX330	IN9	splicing	HphI-		2
1081G>A	11687 G>A	A361T	EX10	miss	Hha I-	CG>CA	2
1106 G>A	11712 G>A	R369H	EX10	miss		CG>CA; *	2
1060 G>A	11666 G>A	V354M	EX10	miss			2
862_866del5	9151_9155del5	E289GfsX39	EX8	del			2
1150 A>G	12888 A>G	K384E	EX11	miss			2
1152 G>C	12890 G>C	K384N	EX11	miss			2
715 G>A	6971 G>A	E239K	EX6	miss			2
700_702delGAC	6956_6958delGAC	234delD	EX6	del			2
691 G>C	6947 G>C	A231L	EX6	miss			2
IVS5-14_-7del8	6909_6916del8	Y223GfsX23	IVS5	del			2
IVS12-1 G>C	13933 G>C	del exon 13	IVS12	splicing			2
262 C>T	3629 C>T	P88S	EX2	miss	Mnl I+		2
233 C>G	3600 C>G	P78R	EX2	miss			2
362 G>T	5861 G>T	R121L	EX3	miss			2
IVS1-1G>C	3576 G>C	210del26, fs stop at aa 9	IN1	splicing			2
1591del4	18245del4	1591delTTCG, fs	EX16	del			2
502 G>A	6549 G>A	V168M	EX4	miss		CG>CA	2
IVS 12+1 G>A	13554 G>A	del ex 12	IN12	del	Sau3A I+		2
518delTGA	6565_6567delTGA	M173del	EX4	del			2
526 G>A	6573 G>A	E176K	EX4	miss	BstX I+	CG>CA	2
IVS4+1 G>A	6579 G>A	n.d.	IVS4	splicing			2
1226 G>A	13221 G>A	W409X	EX12	nons	Bsl I-		2
28delG	28delG	fs, stop at aa 81	EX1	del			2
1616 T>C	18270 T>C	L539S	EX16	miss			2
1367 T>C	13942 T>C	L456P	EX13	miss			2
1627del19	18281del19	fs, stop at aa 568	EX16	del	Sau96I-		2
IVS8+1G>A	9244G>A	del ex 8	IN8	other			2
429 C>G	5928 C>G	I143M	EX3	miss	TaqI-	CG>GG	2
1601 T>A	18255 T>A	V534D	EX16	miss			1
1590del4	18244del4	1590delGTTC, fs	EX16	del			1
1559insACCACAG	18213insACCACAG	S520R, fs, stop at aa540	EX16	other			1
1063G>C	11669G>C	A355P	EX10	miss			1
1576 C>A	18230 C>A	Q526K	EX16	miss			1
1055 G>A	11661 G>A	S352N	EX10	miss			1
del ex 12, del ex 11 and	n.d.	del ex 12, del ex 11 and	n.d.	del	-		1
1622ins4	18276ins4	1622insTGGA, fs	EX16	ins			1
1673del5	18327del5	n.d.	EX17	splicing			1
1471 C>T	15304 C>T	R491C	EX14	miss	Bgl II+	CG>TG	1
1082 T>C	11688 T>C	A361V	EX10	miss			1
1221delC	12959delC	W408fsX423	EX11	del			1
IVS11+39del99	13000del99	n.d.	IN11	del			1
IVS11-89del49	13130del49	n.d.	IN11	del			1
1170 G>A	12908 G>A	W390X	EX11	nons			1
1259C>G	13254 C>G	S420X	EX12	nons			1
1265 C>T	13260 C>T	P422L	EX12	miss		CG>TG	1
1146 del 78	n.d.	del ex 11	n.d.	other			1
IVS10+7 C>T	11758 C>T	n.d.	IN10	splicing			1
1286_1288delTCA	13281_13283del	I429del,fs	EX12	del			1
IVS11+1G>A	11752 G>A	del aa382-407	IN11	other			1
1301 C>A	13296 C>A	T434N	EX12	miss			1
1304T>C	13299T>C	I435T	EX12	miss			1
1336 G>T	13331 G>T	A446S	EX12	miss			1
1109 G>A	11715 G>A	C370Y	EX10	miss	Mae II+		1
1126 G>A	11732 G>A	D376N	EX10	miss		CG>CA	1
1397C>T	13972 C>T	S466L	EX13	miss		CG>TG	1
1173 G>T	12911 G>T	M391I	EX11	miss			1
103G>A; 129G>A	103 G>A	D35N; W43X	EX1	miss			1
415 G>A	5914 G>A	G139R	EX3	miss		CG>CA	1
434 C>T	5933 C>T	P145L	EX3	miss		CG>TG	1
442insG	5941insG	N149fsX187	EX3	ins			1
443 G>A	5942 G>A	G148E	EX3	miss			1
452del 80	n.d.	del ex 4	n.d.	del			1
461 T>A	6508 T>A	L154Q	EX4	miss		CG>TG	1
464C>T	6510 C>T	A155V	EX4	miss			1
469 G>C	6516 G>C	A157P	EX4	miss			1
493del22	6540del22	fs,del aa 165-172	EX4	del			1
503 T>C	6550 T>C	V168A	EX4	miss			1
488	6585	Y163R	EX4	miss			1
393 G>C	5892 G>C	E131D	EX3	miss			1
384 G>C	5883 G>C	E128D	EX3	miss	Mul I-,Fok I-		1
del bp 153-209	n.d.	del aa 52-70	n.d.	del	-		1
172 C>T	172 C>T	R58W	EX1	miss		CG>TG	1
194 A>C	194 A>C	H65R	EX1	miss			1
IVS1+1insC	210insC	del ex 1 (?)	IN1	ins			1
G253 del	G253del	fs	EX2	del			1
260 C>A	3627 C>A	T87N	EX2	miss	MslI-		1
306 G>C	3673 G>C	K102N	EX2	miss			1
313 C>G	3680 C>G	313del4, fs	EX2	del			1
374 G>A	5873 G>A	R125Q	EX3	miss	Pst I+	CG>CA	1
374 G>C	5873 G>C	R125P	EX3	miss	Hpa II+	CG>CC	1
376 A>G	5875 A>G	M126V	EX3	miss			1
IVS4-38del796	6636_7431del796	V178GfsX23	IVS4-6	del			1
IVS4-31del 29	6643del29	del ex 5	IN4	del			1
796A>G	8264 A>G	R266G	EX7	miss	BstN I-		1
808del3	8276del3	del E270	EX7	del			1
IVS7+1 G>A	8297 G>A	828ins104, 737del92	IN7	splicing			1
833 T>G	9122 T>C	I278S	EX8	miss	TspR I+		1
869 C>T	9158 C>T	P290L	EX8	miss	Alu I+	CG>TG	1
892insC	9181insC	Q298fsX329	EX8	ins			1
913 G>A	9202 G>A	G305R	EX8	miss			1
593 A>T	6735 A>T	D198V	EX5	miss			1
955del85	n.d.	del ex 9	n.d.	other			1
962 A>T	9807 A>T	D321V	EX9	miss	Hpy8 I-		1
992 C>A	9837 C>A	A331E	EX9	miss	Hinf I+		1
785 C>G	8253 C>G	T262R	EX7	miss		CG>GG	1
775 G>A	8243 G>A	G259S	EX7	miss		CG>CA	1
539 T>C	6681 T>C	V180A	EX5	miss			1
599 C>T	6741 C>T	P200L	EX5	miss	Msp I-		1
650 C>T	6792 C>T	S217F	EX6	miss			1
671 G>A	6927 G>A	R224H	EX6	miss		CG>CA	1
684 C>G	6940 C>G	N228K	EX6	miss			1
727 C>T	6983 C>T	Q243X	EX6	nons	Fnu4HI-		1
IVS6-1 G>C	8204 G>C	n.d.	IN6	splicing			1
739del 30	n.d.	del aa 247-256	n.d.	del			1
740del25	8208del25	del aa 247-255	EX7	del			1
361 C>A	5680 C>A	R121S	EX3	miss			1
775 G>A	8243 G>A	G259D	EX7	miss		CG>CA	1
992 C>T	9837 C>T	A331V	EX9	miss		CG>TG	1

Retrieved from the database: 21/01/2020, 09:49 AM

List of all CBS mutations

To filter and limit the data displayed within a CBS mutations table, enter your keyword into first row and press ENTER.

To filter and limit the data displayed within a CBS mutations table,
enter your keyword into first row and press ENTER.