Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_144693.3
p.A2V
c.5C>T
NM_144693.3
p.Q26Q
c.78G>A
NM_144693.3
p.L39Q
c.116T>A
NM_144693.3
p.R40_G41Splc
c.121-1G>C
NM_144693.3
p.E55Q
c.163G>C
NM_144693.3
p.C84*
c.252T>A
NM_144693.3
p.E143*
c.427G>T
NM_144693.3
p.N166S
c.497A>G
NM_144693.3
p.E205K
c.613G>A
NM_144693.3
p.G214W
c.640G>T
NM_144693.3
p.K255Q
c.763A>C
NM_144693.3
p.K255R
c.764A>G