Papers
RefSeq ID
Protein change
DNA change
1–12 of 132 variants
NM_004696.3
p.N264H
c.790A>C
NM_004696.3
p.F95S
c.284T>C
NM_004696.3
p.D332H
c.994G>C
NM_004696.3
p.F459L
c.1375T>C
NM_004696.3
p.F459L
c.1377C>G
NM_004696.3
p.F459L
c.1377C>A
NM_004696.3
p.F475fs
c.1423_1424fs
NM_004696.3
p.F475fs
c.1423_1424fs
NM_004696.3
p.F475insFs
c.1425dupT
NM_004696.3
p.F475delFs
c.1425delA
NM_004696.3
p.W482*
c.1446G>A
NM_004696.3
p.R4S
c.12G>C