Mutation

Exon /
Domain

Citations

1

GRN Ala89
   (g.505C>T)
   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

2

GRN Gly93
   (g.517G>A)
   Not pathogenic

EX4
GranG

Bronner IF, 2007
van der Zee J, 2007

3

GRN Cys105Arg
   (g.551T>C)
   Pathogenic nature unclear

EX4
GranG

Gass J, 2006

4

GRN Ser106Asn
   (g.555G>A)
   Not pathogenic

EX4
GranG

van der Zee J, 2007

5

GRN Asp108
   (g.562C>T)
   Not pathogenic

EX4
GranG

Guerreiro RJ, 2010

6

GRN Arg110X
   (g.566C>T)

EX4
GranG

Van Deerlin VM, 2007
Le Ber I, 2008
Yu CE, 2010

7

GRN Arg110Gln
   (g.567G>A)
   Pathogenic nature unclear

EX4
GranG

Sleegers K, 2008