Papers
RefSeq ID
Protein change
DNA change
1–12 of 221 variants
NM_006494.4
p.Y89C
c.266A>G
NM_006494.4
p.R86C
c.256C>T
NM_006494.4
p.R183*
c.547C>T
NM_006494.4
p.K401delFs
c.1201_1202delTT
NM_006494.4
p.K401fs
c.1201_1202fs
NM_006494.4
p.R86C
c.256C>T
NM_006494.4
p.S297_G298delFs
c.891_892delCT
NM_006494.4
p.R65Q
c.194G>A
NM_006494.4
p.G299fs
c.895_896fs
NM_006494.4
p.G53R
c.157G>A
NM_006494.4
p.R218*
c.652C>T
NM_006494.4
p.G53R
c.157G>C