Papers
RefSeq ID
Protein change
DNA change
1–12 of 648 variants
NM_000045.4
p.R21*
c.61C>T
NM_000045.4
p.G235R
c.703G>A
NM_000045.4
p.G235R
c.703G>C
NM_000045.4
p.R291*
c.871C>T
NM_000045.4
p.D128G
c.383A>G
NM_000045.4
p.I11T
c.32T>C
NM_000045.4
p.W122*
c.365G>A
NM_000045.4
p.H141L
c.422A>T
NM_000045.4
p.W122*
c.366G>A
NM_000045.4
p.K155_I156Splc
c.466-1G>C
NM_000045.4
p.R308Q
c.923G>A
NM_000045.4
p.L31delFs
c.93delG