Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_130439.3
p.M1V
c.1A>G
NM_130439.3
p.S128N
c.383G>A
NM_130439.3
p.R224*
c.670C>T
NM_130439.3
p.E242Splc
c.725-20T>C
NM_130439.3
p.M1insFs
c.3dupG
NM_130439.3
p.M1insFs
c.2_3ins4
NM_130439.3
p.E10fs
c.28_29fs
NM_130439.3
p.E10delFs
c.30delG
NM_130439.3
p.C13S
c.37T>A
NM_130439.3
p.C13G
c.37T>G
NM_130439.3
p.C13S
c.38G>C
NM_130439.3
p.V26A
c.77T>C