Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_018559.5
p.R77delFs
c.229_230delAG
NM_018559.5
p.D180_D181Splc
c.540+1G>A
NM_018559.5
p.P197R
c.590C>G
NM_018559.5
p.I6M
c.18C>G
NM_018559.5
p.P11P
c.33G>C
NM_018559.5
p.S49G
c.145A>G
NM_018559.5
p.S53G
c.157A>G
NM_018559.5
p.E63K
c.187G>A
NM_018559.5
p.D88del1
c.262_263delGAT
NM_018559.5
p.Q136R
c.407A>G
NM_018559.5
p.T138A
c.412A>G
NM_018559.5
p.I147V
c.439A>G