Mutation

Exon /
Domain

Citations

1

GRN Ser398Leu
   (g.2864C>T)
   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

2

GRN Gln401X
   (g.2872C>T)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

3

GRN Thr409
   (g.2898G>A)
   Not pathogenic

EX11
GranC

Guerreiro RJ, 2010

4

GRN Val411fs
   (g.2902_2903delGT)

EX11
GranC

Bronner IF, 2007

5

GRN Ala412fs
   (g.2903_2904insGT)

EX11
GranC

Le Ber I, 2007
Le Ber I, 2008

6

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

EX11
GranC

Bronner IF, 2007

7

GRN Gln415X
   (g.2914C>T)

EX11
GranC

Pickering-Brown SM, 2008

8

GRN Arg418X
   (g.2923C>T)

EX11
InterCD

Baker M, 2006
Gass J, 2006
Van Deerlin VM, 2007
Schlachetzki JC, 2009
Yu CE, 2010

9

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

10

GRN Arg432Cys
   (g.2965C>T)
   Pathogenic nature unclear

EX11
InterCD

van der Zee J, 2007
Le Ber I, 2007

11

GRN Arg433Trp
   (g.2968C>T)
   Not pathogenic

EX11
InterCD

Gass J, 2006
Spina S, 2007
van der Zee J, 2007
Schymick J, 2007
Beck J, 2008
Brouwers N, 2008
Nuytemans K, 2008
Finch N, 2009

12

GRN Arg433Gln
   (g.2969G>A)
   Not pathogenic

EX11
InterCD

Mukherjee O, 2008
Guerreiro RJ, 2010

13

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

EX11
GranD

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

14

GRN Pro451Leu
   (g.3023C>T)
   Pathogenic nature unclear

EX11
GranD

Brouwers N, 2008

15

GRN Pro458Leu
   (g.3044C>T)
   Not pathogenic

EX11
GranD

Schymick J, 2007

16

GRN Cys466fs
   (g.3066_3067insC)

EX11
GranD

Gass J, 2006
Kelley BJ, 2009

17

GRN Gln468X
   (g.3073C>T)

EX11
GranD

Baker M, 2006
Yu CE, 2010

18

GRN Leu469Phe
   (g.3078G>T)
   Pathogenic nature unclear

EX11
GranD

Beck J, 2008
Rohrer JD, 2009

19

GRN Pro470Leu
   (g.3080C>T)
   Not pathogenic

EX11
GranD

van der Zee J, 2007