Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_144587.5
p.E177Q
c.529G>C
NM_144587.5
p.R318Q
c.953G>A
NM_144587.5
p.T6M
c.17C>T
NM_144587.5
p.R21W
c.61C>T
NM_144587.5
p.W22*
c.65G>A
NM_144587.5
p.W22*
c.66G>A
NM_144587.5
p.R23S
c.67C>A
NM_144587.5
p.R23_L24delFs
c.68_71del4
NM_144587.5
p.Q27E
c.79C>G
NM_144587.5
p.E68_K71del4
c.202_212del12
NM_144587.5
p.G78V
c.233G>T
NM_144587.5
p.L84F
c.250C>T