Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_014353.5
p.G110S
c.328G>A
NM_014353.5
p.R127H
c.380G>A
NM_014353.5
p.A196S
c.586G>T
NM_014353.5
p.K8fs
c.22_23fs
NM_014353.5
p.K8delFs
c.24delG
NM_014353.5
p.P38L
c.113C>T
NM_014353.5
p.G55G
c.165C>T
NM_014353.5
p.A63delFs
c.188_189delCC
NM_014353.5
p.K65K
c.195G>A
NM_014353.5
p.K65_V66Splc
c.195+1G>A
NM_014353.5
p.V66F
c.196G>T
NM_014353.5
p.T77N
c.230C>A