Papers
RefSeq ID
Protein change
DNA change
1–12 of 302 variants
NM_000316.3
p.H223R
c.668A>G
NM_000316.3
p.P132L
c.395C>T
NM_000316.3
p.R150C
c.448C>T
NM_000316.3
p.T410P
c.1228A>C
NM_000316.3
p.T410R
c.1229C>G
NM_000316.3
p.I458R
c.1373T>G
NM_000316.3
p.V365delFs
c.1093delG
NM_000316.3
p.R383Q
c.1148G>A
NM_000316.3
p.P119L
c.356C>T
NM_000316.3
p.E155*
c.463G>T
NM_000316.3
p.V204E
c.611T>A
NM_000316.3
p.G350Splc
c.1050-3C>G