Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_012377.1
p.V228ins1
c.683_684insATC
NM_012377.1
p.R122H
c.365G>A
NM_012377.1
p.K294R
c.881A>G
NM_012377.1
p.Q6H
c.18A>T
NM_012377.1
p.A18T
c.52G>A
NM_012377.1
p.G41R
c.121G>A
NM_012377.1
p.G41R
c.121G>C
NM_012377.1
p.H56P
c.167A>C
NM_012377.1
p.I101fs
c.301_302fs
NM_012377.1
p.I101_F102insFs
c.303_304insT
NM_012377.1
p.T118M
c.353C>T
NM_012377.1
p.Y128H
c.382T>C