Papers
RefSeq ID
Protein change
DNA change
1–12 of 193 variants
NM_004830.4
p.R611Q
c.1832G>A
NM_015979.4
p.R617Q
c.1850G>A
NM_004830.4
p.L79F
c.235C>T
NM_015979.4
p.H1219R
c.3656A>G
NM_004830.4
p.G128R
c.382G>C
NM_004830.4
p.G128R
c.382G>A
NM_004830.4
p.Y169C
c.506A>G
NM_004830.4
p.A180D
c.539C>A
NM_004830.4
p.R224G
c.670C>G
NM_004830.4
p.Q345*
c.1033C>T
NM_015979.4
p.Q646R
c.1937A>G
NM_004830.4
p.E646G
c.1937A>G