Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_153367.4
p.R239C
c.715C>T
NM_153367.4
p.D103N
c.307G>A
NM_153367.4
p.*242S
c.725G>C
NM_153367.4
p.E43*
c.127G>T
NM_153367.4
p.A54T
c.160G>A
NM_153367.4
p.Q79*
c.235C>T
NM_153367.4
p.Y95C
c.284A>G
NM_153367.4
p.K123R
c.368A>G
NM_153367.4
p.R165C
c.493C>T
NM_153367.4
p.G189R
c.565G>C
NM_153367.4
p.G189R
c.565G>A
NM_153367.4
p.D217A
c.650A>C