Papers
RefSeq ID
Protein change
DNA change
1–12 of 173 variants
NM_003289.4
p.R133W
c.397C>T
NM_003289.4
p.R91G
c.271C>G
NM_003289.4
p.E139del1
c.415_416delCTC
NM_003289.4
p.E41K
c.121G>A
NM_003289.4
p.Q147P
c.440A>C
NM_003289.4
p.E117K
c.349G>A
NM_003289.4
p.K7del1
c.19_20delCTT
NM_003289.4
p.E180G
c.539A>G
NM_003289.4
p.K49del1
c.145_146delCTT
NM_003289.4
p.N202K
c.606C>G
NM_003289.4
p.N202K
c.606C>A
NM_003289.4
p.E181K
c.541G>A