Mutation

Exon /
Domain

Citations

1

GRN Glu287Asp
   (g.2224G>C)
   Pathogenic nature unclear

EX9
GranA

Gass J, 2006

2

GRN Tyr294X
   (g.2245T>G)

EX9
GranA

Steinbach P, 2009

3

GRN Gln300X
   (g.2261C>T)

EX9
GranA

Beck J, 2008
Rohrer JD, 2009

4

GRN Ser301
   (g.2266G>A)
   Not pathogenic

EX9
GranA

Gass J, 2006
van der Zee J, 2007
Sleegers K, 2008

5

GRN Gly302fs
   (g.2266_2267insTG)

EX9
GranA

Guerreiro RJ, 2008

6

GRN Ala303fs
   (g.2270_2271insG)

EX9
GranA

Gijselinck I, 2008

7

GRN Trp304fs
   (g.2272delC)

EX9
GranA

Lladó A, 2007

8

GRN Trp304fs
   (g.2273_2274insTG)

EX9
GranA

Gass J, 2006
Kelley BJ, 2009

9

GRN Trp304X
   (g.2274G>A)

EX9
GranA

Gass J, 2006
Van Deerlin VM, 2007
Yu CE, 2010