Papers
RefSeq ID
Protein change
DNA change
1–12 of 179 variants
NM_012307.5
p.T950K
c.2849C>A
NM_012307.5
p.S109I
c.326G>T
NM_012307.5
p.R498Q
c.1493G>A
NM_012307.5
p.A555T
c.1663G>A
NM_012307.5
p.Y575C
c.1724A>G
NM_012307.5
p.K173delFs
c.519delT
NM_012307.5
p.H181Y
c.541C>T
NM_012307.5
p.K502_S503Splc
c.1506+1G>T
NM_012307.5
p.L637F
c.1909C>T
NM_012307.5
p.A672V
c.2015C>T
NM_012307.5
p.M793T
c.2378T>C
NM_012307.5
p.R806*
c.2416C>T