Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_014671.3
p.S845F
c.2534C>T
NM_014671.3
p.Q351K
c.1051C>A
NM_014671.3
p.K903R
c.2708A>G
NM_014671.3
p.F996C
c.2987T>G
NM_014671.3
p.R469Q
c.1406G>A
NM_014671.3
p.C1051S
c.3151T>A
NM_014671.3
p.C1051S
c.3152G>C
NM_014671.3
p.M1insFs
c.2dupT
NM_014671.3
p.R37G
c.109A>G
NM_014671.3
p.R57*
c.169C>T
NM_014671.3
p.R75H
c.224G>A
NM_014671.3
p.G84D
c.251G>A