Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_021132.4
p.G249R
c.745G>C
NM_021132.4
p.G249R
c.745G>A
NM_021132.4
p.F470F
c.1410C>T
NM_021132.4
p.E5fs
c.13_14fs
NM_021132.4
p.P19S
c.55C>T
NM_021132.4
p.A29Splc
c.85+18C>T
NM_021132.4
p.D47V
c.140A>T
NM_021132.4
p.E67A
c.200A>C
NM_021132.4
p.E84K
c.250G>A
NM_021132.4
p.K85R
c.254A>G
NM_021132.4
p.I100N
c.299T>A
NM_021132.4
p.D106Y
c.316G>T