Papers
RefSeq ID
Protein change
DNA change
1–12 of 117 variants
NM_015327.3
p.R173Q
c.518G>A
NM_015327.3
p.R543W
c.1627C>T
NM_015327.3
p.I355V
c.1063A>G
NM_015327.3
p.L552F
c.1654C>T
NM_015327.3
p.R637W
c.1909C>T
NM_015327.3
p.R640C
c.1918C>T
NM_015327.3
p.D893A
c.2678A>C
NM_015327.3
p.M1K
c.2T>A
NM_015327.3
p.T7fs
c.19_20fs
NM_015327.3
p.G8fs
c.22_23fs
NM_015327.3
p.V17A
c.50T>C
NM_015327.3
p.R33*
c.97C>T