Papers
RefSeq ID
Protein change
DNA change
1–12 of 136 variants
NM_004252.5
p.R153Q
c.458G>A
NM_004252.5
p.L110V
c.328C>G
NM_004252.5
p.E225K
c.673G>A
NM_004252.5
p.E68A
c.203A>C
NM_004252.5
p.R180W
c.538C>T
NM_004252.5
p.E43D
c.129G>C
NM_004252.5
p.E43D
c.129G>T
NM_004252.5
p.K172N
c.516G>C
NM_004252.5
p.K172N
c.516G>T
NM_004252.5
p.D301V
c.902A>T
NM_004252.5
p.H27N
c.79C>A
NM_004252.5
p.T156A
c.466A>G