Papers
RefSeq ID
Protein change
DNA change
1–12 of 147 variants
NM_020680.4
p.Q57*
c.169C>T
NM_020680.4
p.A105V
c.314C>T
NM_020680.4
p.Q347*
c.1039C>T
NM_020680.4
p.Q628*
c.1882C>T
NM_020680.4
p.D645N
c.1933G>A
NM_020680.4
p.E86*
c.256G>T
NM_020680.4
p.G100*
c.298G>T
NM_020680.4
p.V313delFs
c.937delG
NM_020680.4
p.S462_T463Splc
c.1386+1G>T
NM_020680.4
p.D478G
c.1433A>G
NM_020680.4
p.C503_A504delFs
c.1509_1510delTG
NM_020680.4
p.Q546*
c.1636C>T