Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
NM_016121.5
p.P346fs
c.1036_1037fs
NM_016121.5
p.P346_E358delFs
c.1036_1073del38
NM_016121.5
p.R56*
c.166C>T
NM_016121.5
p.R421*
c.1261C>T
NM_016121.5
p.V92I
c.274G>A
NM_016121.5
p.E116K
c.346G>A
NM_016121.5
p.R117C
c.349C>T
NM_016121.5
p.A13V
c.38C>T
NM_016121.5
p.N23N
c.69C>T
NM_016121.5
p.R33I
c.98G>T
NM_016121.5
p.P40P
c.120A>T
NM_016121.5
p.S42F
c.125C>T