Papers
RefSeq ID
Protein change
DNA change
1–12 of 91 variants
NM_130443.4
p.R678H
c.2033G>A
NM_130443.4
p.Y318F
c.953A>T
NM_130443.4
p.Q191_N192Splc
c.573+1G>A
NM_130443.4
p.A382V
c.1145C>T
NM_130443.4
p.D534N
c.1600G>A
NM_130443.4
p.H568N
c.1702C>A
NM_130443.4
p.S668Y
c.2003C>A
NM_130443.4
p.M1K
c.2T>A
NM_130443.4
p.A2V
c.5C>T
NM_130443.4
p.C19*
c.57C>A
NM_130443.4
p.A22V
c.65C>T
NM_130443.4
p.L25L
c.73C>T