Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_002513.3
p.H135Q
c.405C>G
NM_002513.3
p.H135Q
c.405C>A
NM_002513.3
p.W159*
c.477G>A
NM_002513.3
p.V94V
c.282A>T
NM_002513.3
p.W159*
c.476G>A
NM_002513.3
p.M1V
c.1A>G
NM_002513.3
p.E40D
c.120G>T
NM_002513.3
p.E40D
c.120G>C
NM_002513.3
p.R43W
c.127C>T
NM_002513.3
p.E46D
c.138G>T
NM_002513.3
p.E46D
c.138G>C
NM_002513.3
p.K51R
c.152A>G