Papers
RefSeq ID
Protein change
DNA change
1–12 of 183 variants
NM_016111.4
p.R609H
c.1826G>A
NM_016111.4
p.C367F
c.1100G>T
NM_016111.4
p.P260L
c.779C>T
NM_016111.4
p.D720V
c.2159A>T
NM_016111.4
p.V766M
c.2296G>A
NM_016111.4
p.G131D
c.392G>A
NM_016111.4
p.Q172*
c.514C>T
NM_016111.4
p.K678_G679Splc
c.2034+1G>A
NM_016111.4
p.L771S
c.2312T>C
NM_016111.4
p.T584insFs
c.1750dupA
NM_016111.4
p.T584fs
c.1750_1751fs
NM_016111.4
p.V591G
c.1772T>G