Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
NM_007122.5
p.E68K
c.202G>A
NM_007122.5
p.Q159*
c.475C>T
NM_007122.5
p.M1K
c.2T>A
NM_007122.5
p.T153A
c.457A>G
NM_007122.5
p.F160F
c.480C>T
NM_007122.5
p.P187Splc
c.561-100G>A
NM_007122.5
p.R196W
c.586C>T
NM_007122.5
p.K306N
c.918G>T
NM_007122.5
p.K306N
c.918G>C
NM_007122.5
p.M1I
c.3G>C
NM_007122.5
p.G3Splc
c.9-88A>G
NM_007122.5
p.E12E
c.36G>A