Papers
RefSeq ID
Protein change
DNA change
1–12 of 512 variants
NM_016373.4
p.P47T
c.139C>A
NM_016373.4
p.G372R
c.1114G>C
NM_016373.4
p.G372R
c.1114G>A
NM_016373.4
p.V202Splc
c.606-1G>A
NM_016373.4
p.Q230P
c.689A>C
NM_016373.4
p.R54*
c.160C>T
NM_016373.4
p.P47R
c.140C>G
NM_016373.4
p.W44*
c.131G>A
NM_016373.4
p.W44*
c.132G>A
NM_016373.4
p.A179T
c.535G>A
NM_016373.4
p.L239R
c.716T>G
NM_016373.4
p.P282A
c.844C>G