Papers
RefSeq ID
Protein change
DNA change
1–12 of 52 variants
NM_001080439.3
p.R196C
c.586C>T
NM_001080439.3
p.P531L
c.1592C>T
NM_001080439.3
p.M1T
c.2T>C
NM_001080439.3
p.M1K
c.2T>A
NM_001080439.3
p.M1I
c.3G>C
NM_001080439.3
p.R26C
c.76C>T
NM_001080439.3
p.G34G
c.102C>T
NM_001080439.3
p.R35C
c.103C>T
NM_001080439.3
p.S76N
c.227G>A
NM_001080439.3
p.R82C
c.244C>T
NM_001080439.3
p.G100fs
c.298_299fs
NM_001080439.3
p.H112P
c.335A>C