Papers
RefSeq ID
Protein change
DNA change
1–12 of 18 variants
NM_005182.3
p.Y22F
c.65A>T
NM_005182.3
p.L143L
c.427C>T
NM_005182.3
p.G14fs
c.40_41fs
NM_005182.3
p.S45fs
c.133_134fs
NM_005182.3
p.P48R
c.143C>G
NM_005182.3
p.D77E
c.231C>A
NM_005182.3
p.D77E
c.231C>G
NM_005182.3
p.P89H
c.266C>A
NM_005182.3
p.H96D
c.286C>G
NM_005182.3
p.E119_L120Splc
c.357+1G>C
NM_005182.3
p.A137S
c.409G>T
NM_005182.3
p.A137V
c.410C>T