Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_004314.3
p.R102H
c.305G>A
NM_004314.3
p.Y75*
c.225T>A
NM_004314.3
p.Y75*
c.225T>G
NM_004314.3
p.T101S
c.301A>T
NM_004314.3
p.T101S
c.302C>G
NM_004314.3
p.R136C
c.406C>T
NM_004314.3
p.R136H
c.407G>A
NM_004314.3
p.F246fs
c.736_737fs
NM_004314.3
p.L257P
c.770T>C
NM_004314.3
p.R267Q
c.800G>A
NM_004314.3
p.P321S
c.961C>T
NM_004314.3
p.A5A
c.15T>A