Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_022491.3
p.R126Q
c.377G>A
NM_022491.3
p.G313D
c.938G>A
NM_022491.3
p.R325H
c.974G>A
NM_022491.3
p.Q13*
c.37C>T
NM_022491.3
p.P18Q
c.53C>A
NM_022491.3
p.P20S
c.58C>T
NM_022491.3
p.E44*
c.130G>T
NM_022491.3
p.M72T
c.215T>C
NM_022491.3
p.K81E
c.241A>G
NM_022491.3
p.E108D
c.324G>C
NM_022491.3
p.E108D
c.324G>T
NM_022491.3
p.E122D
c.366A>C