Papers
RefSeq ID
Protein change
DNA change
NM_182505.5
p.R55H
c.164G>A
NM_182505.5
p.P67S
c.199C>T
NM_182505.5
p.R12I
c.35G>T
NM_182505.5
p.L40R
c.119T>G
NM_182505.5
p.E50D
c.150A>T
NM_182505.5
p.Q75R
c.224A>G
NM_182505.5
p.A90A
c.270C>A
NM_182505.5
p.E114fs
c.340_341fs
NM_182505.5
p.R129G
c.385A>G