Papers
RefSeq ID
Protein change
DNA change
1–12 of 49 variants
NM_006539.4
p.G165W
c.493G>T
NM_006539.4
p.R208Q
c.623G>A
NM_006539.4
p.R230*
c.688C>T
NM_006539.4
p.S263L
c.788C>T
NM_006539.4
p.P271T
c.811C>A
NM_006539.4
p.R311P
c.932G>C
NM_006539.4
p.V315I
c.943G>A
NM_006539.4
p.R6K
c.17G>A
NM_006539.4
p.T30M
c.89C>T
NM_006539.4
p.D31V
c.92A>T
NM_006539.4
p.T42N
c.125C>A
NM_006539.4
p.N48K
c.144T>A