Papers
RefSeq ID
Protein change
DNA change
1–12 of 571 variants
NM_001903.5
p.R129*
c.385C>T
NM_001903.5
p.N257S
c.770A>G
NM_001903.5
p.A179V
c.536C>T
NM_001903.5
p.E307K
c.919G>A
NM_001903.5
p.R451*
c.1351C>T
NM_001903.5
p.Q675*
c.2023C>T
NM_001903.5
p.L318S
c.953T>C
NM_001903.5
p.R27T
c.80G>C
NM_001903.5
p.Q206H
c.618G>C
NM_001903.5
p.Q206H
c.618G>T
NM_001903.5
p.I431M
c.1293T>G
NM_001903.5
p.R731*
c.2191C>T