L692P E709A E709G E709K G719A G719C G724S Ex18 Ex 19 del745-9 del746-50 del746-51 del746- 52 del747-49 del747-50 del747-51 del747-53 del747-52 del752-9 del746-50IP del746-50DP del746-51VP del746-51A del746-52V del746-52D del746-53VS del747- 51P del747- 50P del747-51Q del747-53Q del747- 53S ------ L692P E709A E709G E709K G719A G719C G724S Ex18 Ex 19 del745-9 del746-50 del746-51 del746- 52 del747-49 del747-50 del747-51 del747-53 del747-52 del752-9 del746-50IP del746-50DP del746-51VP del746-51A del746-52V del746-52D del746-53VS del747- 51P del747- 50P del747-51Q del747-53Q del747- 53S ------ L692P E709A E709G E709K G719A G719C G724S Ex18 Ex 19 del745-9 del746-50 del746-51 del746- 52 del747-49 del747-50 del747-51 del747-53 del747-52 del752-9 del746-50IP del746-50DP del746-51VP del746-51A del746-52V del746-52D del746-53VS del747- 51P del747- 50P del747-51Q del747-53Q del747- 53S ------ L692P E709A E709G E709K G719A G719C G724S Ex18 Ex 19 del745-9 del746-50 del746-51 del746- 52 del747-49 del747-50 del747-51 del747-53 del747-52 del752-9 del746-50IP del746-50DP del746-51VP del746-51A del746-52V del746-52D del746-53VS del747- 51P del747- 50P del747-51Q del747-53Q del747- 53S ------ 100,000 wt (300 ng genomic DNA) + 100,000 mt (50%) A. 100,000 wt ( 300 ng genomic DNA) + 5000 mt (5%) B . 100,000 wt (300 ng genomic DNA) + 125 mt (0.125%) C. 100,000 wt (300 ng genomic DNA) + 62.5 mt (0.063%) D. wt mt wt mt Supplementary I to Figure 1A
L692P
Jan 03, 2016
Supplementary I to Figure 1A. Ex18. Ex 19. Ex18. Ex 19. del745-9. del745-9. del746-50DP. del746-51VP. del746-53VS. del747-50P. del746-50DP. del746-51VP. del746-53VS. del747-50P. del746-50IP. del752-9. del747-53Q. del747-51Q. del746-50IP. del752-9. del746-52D. del746-51A. - PowerPoint PPT Presentation
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L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
Ex18 Ex 19
del7
45-9
del7
46-5
0de
l746
-51
del7
46-5
2de
l747
-49
del7
47-5
0de
l747
-51
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
Ex18 Ex 19
del7
45-9
del7
46-5
0de
l746
-51
del7
46-5
2de
l747
-49
del7
47-5
0de
l747
-51
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
Ex18 Ex 19
del7
45-9
del7
46-5
0de
l746
-51
del7
46-5
2de
l747
-49
del7
47-5
0de
l747
-51
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
Ex18 Ex 19
del7
45-9
del7
46-5
0de
l746
-51
del7
46-5
2de
l747
-49
del7
47-5
0de
l747
-51
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
100,000 wt (300 ng genomic DNA) + 100,000 mt (50%)A.
100,000 wt ( 300 ng genomic DNA) + 5000 mt (5%)B.
100,000 wt (300 ng genomic DNA) + 125 mt (0.125%)C.
100,000 wt (300 ng genomic DNA) + 62.5 mt (0.063%)D.
wtmt
wtmt
Supplementary I to Figure 1A
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
wtmt
wtmt
100,000 wt (300 ng genomic DNA) + 100,000 mt (50%)A.
100,000 wt ( 300 ng genomic DNA) + 5000 mt (5%)B.
100,000 wt (300 ng genomic DNA) + 625 mt (0.625%)C.
D. 100,000 wt (300 ng genomic DNA) + 312.5 mt (0.313%)
Supplementary II to Figure 1A
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
------
Ex20 Ex21 Ex20
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
------
Ex20 Ex21 Ex20
10,000 wt (30ng genomic DNA) + 10,000 mtA.
10,000 wt (30ng genomic DNA) + 10 mtB.
Supplementary to Figure 1B
wtmt
wt
mt
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
S76
8I
V76
9Lin
sN77
1GT
ins7
70N
PG
ins7
70S
VQ
T 7
90M
------
Ex20 Ex21 Ex20 Ex20
T 7
90M
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
S76
8I
V76
9Lin
sN77
1GT
ins7
70N
PG
ins7
70S
VQ
T 7
90M
------
Ex20 Ex21 Ex20 Ex20
T 7
90M
MC 005 F/81 MC 005 F/81
MC 007 M/53 MC 007 M/53
Supplementary Figure 3aL6
92P
E70
9AE
709G
E70
9KG
719A
G71
9CG
724S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex18 Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex18 Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
S76
8I
V76
9Lin
sN77
1GT
ins7
70N
PG
ins7
70S
VQ
T 7
90M
------
Ex20 Ex21 Ex20 Ex20
T 7
90M
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
S76
8I
V76
9Lin
sN77
1GT
ins7
70N
PG
ins7
70S
VQ
T 7
90M
------
Ex20 Ex21 Ex20 Ex20
T 7
90M
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex18 Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex18 Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
Supplementary Figure 3b
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex18 Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
S76
8I
V76
9Lin
sN77
1GT
ins7
70N
PG
ins7
70S
VQ
T 7
90M
------
Ex20 Ex21 Ex20 Ex20
T 7
90M
V76
5MS
768C
V76
9MH
773R
V77
4MR
776H
G77
9FG
779S
Q78
7RL7
98H
K80
6EL8
14P
L833
VV
834L
H83
5LL8
38V
A83
9TK
846R
L858
ML8
58R
L861
QL8
61R
ins7
61E
AF
Qin
s769
AS
ins7
69G
Sin
s769
GV
ins7
70S
VD
insN
771G
Fin
s772
PR
1in
s772
PR
2in
s773
NP
Hin
s773
VH
S76
8I
V76
9Lin
sN77
1GT
ins7
70N
PG
ins7
70S
VQ
T 7
90M
------
Ex20 Ex21 Ex20 Ex20
T 7
90M
Supplementary Figure 3c
MC 010 M/74 MC 010 M/74
MC 004 F/57 MC 004 F/57
L692
PE
709A
E70
9GE
709K
G71
9AG
719C
G72
4S
T79
0MD
761Y
S76
8lV
769L
insN
771G
Tin
s770
NP
Gin
s770
SV
Q
------
Ex18 Ex 19 RM
del7
45-9
de
l746
-50
del7
46-5
1de
l746
-52
del7
47-4
9de
l747
-50
del7
47-5
1
del7
47-5
3de
l747
-52
del7
52-9
del7
46-5
0IP
del7
46-5
0DP
del7
46-5
1VP
del7
46-5
1A
del7
46-5
2Vde
l746
-52D
del7
46-5
3VS
del7
47-5
1Pde
l747
-50P
del7
47-5
1Qde
l747
-53Q
del7
47-5
3S
------