Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_139248.3
p.C246S
c.736T>A
NM_139248.3
p.C246S
c.737G>C
NM_139248.3
p.H248N
c.742C>A
NM_139248.3
p.I220delFs
c.659_660delTA
NM_139248.3
p.W108R
c.322T>C
NM_139248.3
p.W108R
c.322T>A
NM_139248.3
p.L228delFs
c.683delA
NM_139248.3
p.D207H
c.619G>C
NM_139248.3
p.T208delFs
c.624delA
NM_139248.3
p.C233W
c.699C>G
NM_139248.3
p.M328Splc
c.982+5G>T
NM_139248.3
p.M1T
c.2T>C