Papers
RefSeq ID
Protein change
DNA change
1–12 of 1025 variants
NM_000083.3
p.R894*
c.2680C>T
NM_000083.3
p.F167L
c.501C>G
NM_000083.3
p.G230E
c.689G>A
NM_000083.3
p.F167L
c.499T>C
NM_000083.3
p.F167L
c.501C>A
NM_000083.3
p.F413C
c.1238T>G
NM_000083.3
p.A313T
c.937G>A
NM_000083.3
p.A531V
c.1592C>T
NM_000083.3
p.M485V
c.1453A>G
NM_000083.3
p.P480L
c.1439C>T
NM_000083.3
p.I290M
c.870C>G
NM_000083.3
p.Q60_I61Splc
c.180+3A>T