Mutation

Exon /
Domain

Citations

1

GRN Thr52fs
   (g.277delA)

EX3
InterParaG

Gass J, 2006
Kelley BJ, 2009
Lindquist S, 2009

2

GRN Thr52Hisfs
   (g.279delA)
   Pathogenic nature unclear

EX3

Kelley BJ, 2010

3

GRN Leu53Pro
   (g.281T>C)
   Pathogenic nature unclear

EX3
InterParaG

Skoglund L, 2007

4

GRN Arg55Trp
   (g.286A>T)
   Not pathogenic

EX3
InterParaG

Guerreiro RJ, 2010

5

GRN Ala69Thr
   (g.328G>A)
   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

6

GRN Thr76
   (g.351C>T)
   Not pathogenic

EX3
GranG

Guerreiro RJ, 2010

7

GRN Gly79fs
   (g.357_358delAG)

EX3
GranG

Gass J, 2006

8

GRN Ser82fs
   (g.366delC)

EX3
GranG

Bronner IF, 2007

9

GRN Phe86fs
   (g.378delC)

EX3
GranG

Gijselinck I, 2008

10

GRN Glu88
   (g.387G>A)
   Pathogenic nature unclear

EX3
GranG

Gass J, 2006