Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
NM_005220.3
p.G191_E192delFs
c.571_574del4
NM_005220.3
p.L187_Y188delFs
c.561_562delAG
NM_005220.3
p.Q178R
c.533A>G
NM_005220.3
p.R133P
c.398G>C
NM_005220.3
p.S182F
c.545C>T
NM_005220.3
p.I175T
c.524T>C
NM_005220.3
p.M1T
c.2T>C
NM_005220.3
p.Y188fs
c.562_563fs
NM_005220.3
p.Q268R
c.803A>G
NM_005220.3
p.Y95*
c.285C>G
NM_005220.3
p.Y95*
c.285C>A
NM_005220.3
p.A105V
c.314C>T