Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_019002.4
p.P771S
c.2311C>T
NM_019002.4
p.E673K
c.2017G>A
NM_019002.4
p.S389N
c.1166G>A
NM_019002.4
p.G439R
c.1315G>A
NM_019002.4
p.G439R
c.1315G>C
NM_019002.4
p.M221T
c.662T>C
NM_019002.4
p.P715L
c.2144C>T
NM_019002.4
p.E50D
c.150G>C
NM_019002.4
p.E50D
c.150G>T
NM_019002.4
p.P163H
c.488C>A
NM_019002.4
p.W306*
c.917G>A
NM_019002.4
p.N471S
c.1412A>G