Papers
RefSeq ID
Protein change
DNA change
1–12 of 109 variants
NM_003936.5
p.R196*
c.586C>T
NM_003936.5
p.M1T
c.2T>C
NM_003936.5
p.E24A
c.71A>C
NM_003936.5
p.Q98*
c.292C>T
NM_003936.5
p.C243Y
c.728G>A
NM_003936.5
p.M1insFs
c.3dupG
NM_003936.5
p.P9_S11insFs
c.26_33dup8
NM_003936.5
p.A10T
c.28G>A
NM_003936.5
p.A13D
c.38C>A
NM_003936.5
p.K14R
c.41A>G
NM_003936.5
p.G15S
c.43G>A
NM_003936.5
p.R16R
c.48G>C