Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_017799.4
p.Q465*
c.1393C>T
NM_017799.4
p.W539delFs
c.1617delG
NM_017799.4
p.Y567fs
c.1699_1700fs
NM_017799.4
p.G64_V65Splc
c.193-2A>G
NM_017799.4
p.I566_Y567delFs
c.1698_1701del4
NM_017799.4
p.E582Q
c.1744G>C
NM_017799.4
p.E55fs
c.163_164fs
NM_017799.4
p.R115K
c.344G>A
NM_017799.4
p.Y470*
c.1410C>G
NM_017799.4
p.W539fs
c.1615_1616fs
NM_017799.4
p.P549fs
c.1645_1646fs
NM_017799.4
p.Y470*
c.1410C>A