Papers
RefSeq ID
Protein change
DNA change
1–12 of 301 variants
NM_000340.2
p.T110I
c.329C>T
NM_000340.2
p.V197I
c.589G>A
NM_000340.2
p.R301*
c.901C>T
NM_000340.2
p.P417L
c.1250C>T
NM_000340.2
p.R365*
c.1093C>T
NM_000340.2
p.R53*
c.157C>T
NM_000340.2
p.Q287*
c.859C>T
NM_000340.2
p.G318R
c.952G>C
NM_000340.2
p.G318R
c.952G>A
NM_000340.2
p.L389P
c.1166T>C
NM_000340.2
p.V423E
c.1268T>A
NM_000340.2
p.W444R
c.1330T>C