Papers
RefSeq ID
Protein change
DNA change
1–12 of 42 variants
NM_012264.5
p.R282H
c.845G>A
NM_012264.5
p.P28L
c.83C>T
NM_012264.5
p.V54M
c.160G>A
NM_012264.5
p.I84T
c.251T>C
NM_012264.5
p.V88M
c.262G>A
NM_012264.5
p.A92S
c.274G>T
NM_012264.5
p.V114I
c.340G>A
NM_012264.5
p.L127R
c.380T>G
NM_012264.5
p.G162R
c.484G>C
NM_012264.5
p.G162R
c.484G>A
NM_012264.5
p.K184E
c.550A>G
NM_012264.5
p.S254fs
c.760_761fs