Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_207317.3
p.N317delFs
c.951delT
NM_207317.3
p.L318*
c.953T>A
NM_207317.3
p.E155K
c.463G>A
NM_207317.3
p.R253Q
c.758G>A
NM_207317.3
p.N317fs
c.949_950fs
NM_207317.3
p.E22*
c.64G>T
NM_207317.3
p.I27N
c.80T>A
NM_207317.3
p.V48I
c.142G>A
NM_207317.3
p.T58N
c.173C>A
NM_207317.3
p.K60N
c.180A>C
NM_207317.3
p.K60N
c.180A>T
NM_207317.3
p.K61*
c.181A>T