Papers
RefSeq ID
Protein change
DNA change
1–12 of 308 variants
NM_144658.4
p.E26*
c.76G>T
NM_144658.4
p.E26_A27insFs
c.78_79insT
NM_144658.4
p.Y108C
c.323A>G
NM_144658.4
p.R190S
c.570A>C
NM_144658.4
p.R190S
c.570A>T
NM_144658.4
p.S207Y
c.620C>A
NM_144658.4
p.Y222*
c.666C>A
NM_144658.4
p.Y222*
c.666C>G
NM_144658.4
p.L242P
c.725T>C
NM_144658.4
p.E255K
c.763G>A
NM_144658.4
p.I1673T
c.5018T>C
NM_144658.4
p.W1707S
c.5120G>C