Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_017969.3
p.T721A
c.2161A>G
NM_017969.3
p.E50_N51Splc
c.150+9T>A
NM_017969.3
p.E367*
c.1099G>T
NM_017969.3
p.V425I
c.1273G>A
NM_017969.3
p.Q10H
c.30G>T
NM_017969.3
p.Q10H
c.30G>C
NM_017969.3
p.P18L
c.53C>T
NM_017969.3
p.R23Q
c.68G>A
NM_017969.3
p.S54I
c.161G>T
NM_017969.3
p.E57V
c.170A>T
NM_017969.3
p.D68N
c.202G>A
NM_017969.3
p.N110K
c.330T>G