Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_012390.4
p.A128V
c.383C>T
NM_012390.4
p.L10I
c.28C>A
NM_012390.4
p.W11S
c.32G>C
NM_012390.4
p.P40L
c.119C>T
NM_012390.4
p.C42R
c.124T>C
NM_012390.4
p.C42Y
c.125G>A
NM_012390.4
p.Y58N
c.172T>A
NM_012390.4
p.F63I
c.187T>A
NM_012390.4
p.P78P
c.234A>T
NM_012390.4
p.R88I
c.263G>T
NM_012390.4
p.P100Q
c.299C>A
NM_012390.4
p.P120S
c.358C>T