Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_207321.3
p.C40S
c.118T>A
NM_207321.3
p.C40S
c.119G>C
NM_207321.3
p.E19G
c.56A>G
NM_207321.3
p.E237K
c.709G>A
NM_207321.3
p.A99T
c.295G>A
NM_207321.3
p.T373_G374Splc
c.1120-3C>T
NM_207321.3
p.R4*
c.10C>T
NM_207321.3
p.S9F
c.26C>T
NM_207321.3
p.R12Q
c.35G>A
NM_207321.3
p.C40Y
c.119G>A
NM_207321.3
p.V42D
c.125T>A
NM_207321.3
p.D54N
c.160G>A