Papers
RefSeq ID
Protein change
DNA change
1–12 of 193 variants
NM_033467.4
p.M518T
c.1553T>C
NM_033467.4
p.L35del1
c.103_105delCAG
NM_033467.4
p.I678T
c.2033T>C
NM_033467.4
p.R271W
c.811C>T
NM_033467.4
p.E323Q
c.967G>C
NM_033467.4
p.E491K
c.1471G>A
NM_033467.4
p.D701E
c.2103C>G
NM_033467.4
p.D701E
c.2103C>A
NM_033467.4
p.D708N
c.2122G>A
NM_033467.4
p.E12delFs
c.35delT
NM_033467.4
p.L29Q
c.86T>A
NM_033467.4
p.L35V
c.103C>G