Papers
RefSeq ID
Protein change
DNA change
1–12 of 87 variants
NM_017481.4
p.M546T
c.1637T>C
NM_017481.4
p.R624Q
c.1871G>A
NM_017481.4
p.*656*
c.1968G>A
NM_017481.4
p.K3T
c.8A>C
NM_017481.4
p.A7V
c.20C>T
NM_017481.4
p.A7insFs
c.20dupC
NM_017481.4
p.D31A
c.92A>C
NM_017481.4
p.T40K
c.119C>A
NM_017481.4
p.E49A
c.146A>C
NM_017481.4
p.D59Y
c.175G>T
NM_017481.4
p.D59N
c.175G>A
NM_017481.4
p.L61F
c.181C>T