Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_152611.5
p.L148F
c.442C>T
NM_152611.5
p.Y549N
c.1645T>A
NM_152611.5
p.T141A
c.421A>G
NM_152611.5
p.V412M
c.1234G>A
NM_152611.5
p.S605S
c.1815G>A
NM_152611.5
p.W17*
c.51G>A
NM_152611.5
p.C48S
c.143G>C
NM_152611.5
p.L80F
c.238C>T
NM_152611.5
p.S83R
c.247A>C
NM_152611.5
p.S83R
c.249C>G
NM_152611.5
p.S83R
c.249C>A
NM_152611.5
p.L90delFs
c.268delG