Mutation

Exon /
Domain

Citations

1

GRN Ser82fs
   (g.366delC)

EX3
GranG

Bronner IF, 2007

2

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

EX4
GranG

Bronner IF, 2007
van der Zee J, 2007

3

GRN Gln125X
   (g.1087C>T)

EX5
GranF

Baker M, 2006
Cruts M, 2006
Bronner IF, 2007

4

GRN Thr182Met
   (g.1360C>T)
   Not pathogenic

EX6
InterFB

Bronner IF, 2007
Schymick J, 2007
Guerreiro RJ, 2008
Guerreiro RJ, 2010

5

GRN Pro233Gln
   (g.1626C>A)
   Pathogenic nature unclear

EX7
GranB

Bronner IF, 2007

6

GRN Val411fs
   (g.2902_2903delGT)

EX11
GranC

Bronner IF, 2007

7

GRN Gly414Val
   (g.2912G>T)
   Not pathogenic

EX11
GranC

Bronner IF, 2007

8

GRN Arg418Gln
   (g.2924G>A)
   Not pathogenic

EX11
InterCD

Gass J, 2006
Bronner IF, 2007
van der Zee J, 2007
Le Ber I, 2007
Sleegers K, 2008

9

GRN His447
   (g.3012C>T)
   Pathogenic nature unclear

EX11
GranD

Bronner IF, 2007
Sleegers K, 2008
Finch N, 2009

10

GRN Trp541Cys
   (g.3386G>C)
   Pathogenic nature unclear

EX12
GranE

Bronner IF, 2007