Papers
RefSeq ID
Protein change
DNA change
1–12 of 1573 variants
NM_000444.6
p.P534L
c.1601C>T
NM_000444.6
p.G579R
c.1735G>A
NM_000444.6
p.G579R
c.1735G>C
NM_000444.6
p.R747*
c.2239C>T
NM_000444.6
p.R291*
c.871C>T
NM_000444.6
p.R702*
c.2104C>T
NM_000444.6
p.R567*
c.1699C>T
NM_000444.6
p.R549*
c.1645C>T
NM_000444.6
p.R20*
c.58C>T
NM_000444.6
p.R549Splc
c.1645+1G>A
NM_000444.6
p.C85R
c.253T>C
NM_000444.6
p.R651P
c.1952G>C