Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_013300.3
p.G146Splc
c.436+2C>T
NM_013300.3
p.R158H
c.473G>A
NM_013300.3
p.G14R
c.40G>C
NM_013300.3
p.G41V
c.122G>T
NM_013300.3
p.L91I
c.271C>A
NM_013300.3
p.M128V
c.382A>G
NM_013300.3
p.M128T
c.383T>C
NM_013300.3
p.Y165D
c.493T>G
NM_013300.3
p.Q173*
c.517C>T
NM_013300.3
p.S181F
c.542C>T
NM_013300.3
p.G207Splc
c.620+559C>T
NM_013300.3
p.R225G
c.673A>G