Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_001421.4
p.T187N
c.560C>A
NM_001421.4
p.R234*
c.700C>T
NM_001421.4
p.W251S
c.752G>C
NM_001421.4
p.W231R
c.691T>C
NM_001421.4
p.W231R
c.691T>A
NM_001421.4
p.A339fs
c.1015_1016fs
NM_001421.4
p.S369P
c.1105T>C
NM_001421.4
p.Q39*
c.115C>T
NM_001421.4
p.R185*
c.553C>T
NM_001421.4
p.S248F
c.743C>T
NM_001421.4
p.G155delFs
c.465delC
NM_001421.4
p.W212C
c.636G>T