Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_014836.5
p.Q193R
c.578A>G
NM_014836.5
p.S352N
c.1055G>A
NM_014836.5
p.P556L
c.1667C>T
NM_014836.5
p.L574insFs
c.1722dupT
NM_014836.5
p.A575fs
c.1723_1724fs
NM_014836.5
p.W83R
c.247T>C
NM_014836.5
p.W83R
c.247T>A
NM_014836.5
p.R94H
c.281G>A
NM_014836.5
p.R99Splc
c.296+778T>C
NM_014836.5
p.L105I
c.313C>A
NM_014836.5
p.K119R
c.356A>G
NM_014836.5
p.Y146*
c.438T>G