Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_004292.3
p.P52L
c.155C>T
NM_004292.3
p.R27*
c.79A>T
NM_004292.3
p.A79T
c.235G>A
NM_004292.3
p.P686S
c.2056C>T
NM_004292.3
p.P265S
c.793C>T
NM_004292.3
p.R410W
c.1228C>T
NM_004292.3
p.E574A
c.1721A>C
NM_004292.3
p.L658F
c.1972C>T
NM_004292.3
p.T21T
c.63T>A
NM_004292.3
p.G23_H24insFs
c.69_70insA
NM_004292.3
p.P52P
c.156G>A
NM_004292.3
p.R59Q
c.176G>A