Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
NM_013264.5
p.R242H
c.725G>A
NM_013264.5
p.P92L
c.275C>T
NM_013264.5
p.E106V
c.317A>T
NM_013264.5
p.D284D
c.852C>T
NM_013264.5
p.R377*
c.1129C>T
NM_013264.5
p.S46F
c.137C>T
NM_013264.5
p.E83K
c.247G>A
NM_013264.5
p.R103Q
c.308G>A
NM_013264.5
p.Q169_C170Splc
c.507+55G>T
NM_013264.5
p.R267Splc
c.800+10A>C
NM_013264.5
p.L309L
c.927G>A
NM_013264.5
p.L415L
c.1245C>G