Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_015380.5
p.D110G
c.329A>G
NM_015380.5
p.I345V
c.1033A>G
NM_015380.5
p.R247*
c.739C>T
NM_015380.5
p.R267Q
c.800G>A
NM_015380.5
p.H414Y
c.1240C>T
NM_015380.5
p.R416H
c.1247G>A
NM_015380.5
p.T3T
c.9T>G
NM_015380.5
p.V4V
c.12G>C
NM_015380.5
p.R7_S8Splc
c.21+2633C>T
NM_015380.5
p.E10K
c.28G>A
NM_015380.5
p.P11delFs
c.31delC
NM_015380.5
p.D18V
c.53A>T