Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_014395.3
p.Y139F
c.416A>T
NM_014395.3
p.T67T
c.201C>T
NM_014395.3
p.G169S
c.505G>A
NM_014395.3
p.E28K
c.82G>A
NM_014395.3
p.Y36*
c.108T>A
NM_014395.3
p.H43N
c.127C>A
NM_014395.3
p.L48F
c.142C>T
NM_014395.3
p.G56S
c.166G>A
NM_014395.3
p.D78Y
c.232G>T
NM_014395.3
p.S79Y
c.236C>A
NM_014395.3
p.T88I
c.263C>T
NM_014395.3
p.K103fs
c.307_308fs