c.341G > A; p.(R114Q)
|
[15]
|
2
|
+ 17
|
Tolerated (0.25)
|
Possibly damaging (0.748)
|
Partial loss
|
No effect
|
c.416C > T; p.(A139V)
|
[41]
|
2
|
-12
|
Damaging (0.01)
|
Possibly damaging (0.774)
|
–
|
No effect
|
c.421C > G; p.(H141D)
|
[42]
|
2
|
-7
|
Tolerated (1.00)
|
Probably damaging (0.999)
|
Partial loss
|
No effect
|
c.434 T > C; p.(L145P)
|
[42]
|
3
|
+ 7
|
Damaging (0.00)
|
Probably damaging (0.972)
|
Complete loss
|
No effect
|
c.446G > A; p.(R149Q)
|
[43]
|
3
|
+ 19
|
Damaging (0.03)
|
Probably damaging (0.999)
|
–
|
No effect
|
c.446G > T; p.(R149L)
|
[30]
|
3
|
+ 19
|
Damaging (0.00)
|
Probably damaging (0.999)
|
Complete loss
|
Truncated exon 3
|
c.452 T > G; p.(L151W)
|
[42]
|
3
|
+ 25
|
Damaging (0.00)
|
Probably damaging (0.998)
|
Partial loss
|
No effect
|
c.453G > T; p.(L151F)
|
[42]
|
3
|
+ 26
|
Damaging (0.00)
|
Probably damaging (0.985)
|
Partial loss
|
Truncated exon 3
|
c.485G > T; p.(G162V)
|
[41]
|
3
|
+ 58
|
Damaging (0.01)
|
Probably damaging (0.989)
|
–
|
No effect
|
c.571G > A; p.(G191R)
|
[1]
|
3
|
−22
|
Damaging (0.00)
|
Probably damaging (1.000)
|
Partial loss
|
Exon 3 skipping
|
c.593G > A; p.(G198D)
|
[1]
|
4
|
+ 1
|
Damaging (0.00)
|
Probably damaging (0.994)
|
Complete loss
|
Exon 4 skipping
|
c.593G > C; p.(G198A)
|
[30]
|
4
|
+ 1
|
Tolerated (0.07)
|
Probably Damaging (0.961)
|
–
|
Exon 4 skipping
|