Papers
RefSeq ID
Protein change
DNA change
1–12 of 13 variants
NM_001396072.1
p.T197I
c.590C>T
NM_001396072.1
p.M1I
c.3G>A
NM_001396072.1
p.M1I
c.3G>C
NM_001396072.1
p.M1I
c.3G>T
NM_001396072.1
p.M40I
c.120G>A
NM_001396072.1
p.M40I
c.120G>C
NM_001396072.1
p.M40I
c.120G>T
NM_001396072.1
p.R113*
c.337C>T
NM_001396072.1
p.Q143*
c.427C>T
NM_001396072.1
p.N232S
c.695A>G
NM_001396072.1
p.T235S
c.703A>T
NM_001396072.1
p.T235S
c.704C>G