Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_015368.4
p.C347S
c.1039T>A
NM_015368.4
p.C347S
c.1040G>C
NM_015368.4
p.Q392*
c.1174C>T
NM_015368.4
p.K346E
c.1036A>G
NM_015368.4
p.R217H
c.650G>A
NM_015368.4
p.Q5H
c.15A>C
NM_015368.4
p.T21_P23del3
c.61_68del9
NM_015368.4
p.Q5H
c.15A>T
NM_015368.4
p.F54C
c.161T>G
NM_015368.4
p.S238P
c.712T>C
NM_015368.4
p.R300Q
c.899G>A
NM_015368.4
p.C426S
c.1276T>A