1
|
12
|
F
|
13,175
|
800
|
c.153delT /
c.891C>T
|
p.Gln52Lysfs*6 /
Altered splicing
|
Highly reduced
|
(10,11)
|
2
|
3
|
M
|
16,300
|
670
|
c.1431-12G>A /
c.1431-12G>A
|
Altered splicing /
Altered splicing
|
Absent
|
(12)
|
3
|
4
|
F
|
21
|
230
|
c.1129G>T /
c.2667-2A>G
|
p.Gly377* /
Altered splicing
|
Absent
|
This study
|
4
|
43
|
M
|
1,711
|
750
|
c.238dupG /
c.238dupG
|
p.Ala80Glyfs*19 /
p.Ala80Glyfs*19
|
Absent
|
(13)
|
5
|
4
|
M
|
2,145
|
850
|
c.316_317delGA /
c.1302+4A>T
|
p.Asp106Trpfs*7 / Altered splicing
|
Highly reduced
|
(14,15)
|
6
|
19
|
F
|
1,718
|
450
|
c.1111C>T /
c.2041_2042delAG
|
p.Arg371* /
p.Arg681Glufs*28
|
Absent
|
(16)
|
7
|
5
|
M
|
155
|
300
|
c.238dupG /
c.891C>T
|
p.Ala80Glyfs*19 /
Altered splicing
|
Highly reduced
|
(11)
|
8
|
13
|
F
|
1,035
|
390
|
ND /
ND
|
/
|
Absent
|
/
|
9
|
13
|
F
|
893
|
650
|
c.1302+4A>T /
°
|
Altered splicing /
°
|
Reduced
|
(14)
|
10
|
22
|
F
|
635
|
560
|
ND /
ND
|
ND / ND
|
Absent
|
/
|