Papers
RefSeq ID
Protein change
DNA change
1–12 of 108 variants
NM_015693.4
p.A452T
c.1354G>A
NM_015693.4
p.N132fs
c.394_395fs
NM_015693.4
p.N132delFs
c.396delT
NM_015693.4
p.C838R
c.2512T>C
NM_015693.4
p.G200R
c.598G>A
NM_015693.4
p.E355*
c.1063G>T
NM_015693.4
p.E500A
c.1499A>C
NM_015693.4
p.G200R
c.598G>C
NM_015693.4
p.Q276*
c.826C>T
NM_015693.4
p.G523S
c.1567G>A
NM_015693.4
p.R543C
c.1627C>T
NM_015693.4
p.R572*
c.1714C>T