Papers
RefSeq ID
Protein change
DNA change
1–12 of 192 variants
NM_006910.5
p.G547S
c.1639G>A
NM_006910.5
p.R1569H
c.4706G>A
NM_006910.5
p.R359R
c.1075A>C
NM_006910.5
p.S136L
c.407C>T
NM_006910.5
p.A595T
c.1783G>A
NM_006910.5
p.R793H
c.2378G>A
NM_006910.5
p.R1433H
c.4298G>A
NM_006910.5
p.R1451T
c.4352G>C
NM_006910.5
p.E1654G
c.4961A>G
NM_006910.5
p.H1763fs
c.5287_5288fs
NM_006910.5
p.M1V
c.1A>G
NM_006910.5
p.M1delFs
c.2_3delTG