Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_016027.3
p.Q29H
c.87A>T
NM_016027.3
p.Q29H
c.87A>C
NM_016027.3
p.G48_E49delFs
c.144_147del4
NM_016027.3
p.E65K
c.193G>A
NM_016027.3
p.D81A
c.242A>C
NM_016027.3
p.R106Q
c.317G>A
NM_016027.3
p.E118A
c.353A>C
NM_016027.3
p.D126E
c.378T>G
NM_016027.3
p.D126E
c.378T>A
NM_016027.3
p.G144V
c.431G>T
NM_016027.3
p.G144_D147del4
c.430_440del12
NM_016027.3
p.H149R
c.446A>G