Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_181710.4
p.Q32H
c.96A>T
NM_181710.4
p.A96T
c.286G>A
NM_181710.4
p.A157S
c.469G>T
NM_181710.4
p.V251M
c.751G>A
NM_181710.4
p.R5H
c.14G>A
NM_181710.4
p.S14T
c.41G>C
NM_181710.4
p.P23_L24delFs
c.68_71del4
NM_181710.4
p.P37S
c.109C>T
NM_181710.4
p.G59_Q64delFs
c.176_191del16
NM_181710.4
p.R68_M71del4
c.202_212del12
NM_181710.4
p.W73G
c.217T>G
NM_181710.4
p.R78*
c.232C>T