Papers
RefSeq ID
Protein change
DNA change
1–12 of 17 variants
NM_001394057.1
p.R128H
c.383G>A
NM_001394057.1
p.A141T
c.421G>A
NM_001394057.1
p.R2*
c.4C>T
NM_001394057.1
p.S9I
c.26G>T
NM_001394057.1
p.R12H
c.35G>A
NM_001394057.1
p.V28A
c.83T>C
NM_001394057.1
p.P45L
c.134C>T
NM_001394057.1
p.G75G
c.225C>A
NM_001394057.1
p.W138C
c.414G>C
NM_001394057.1
p.T142I
c.425C>T
NM_001394057.1
p.A141_T142delins
c.421_425delinsACCAT
NM_001394057.1
p.E163K
c.487G>A