Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_022780.4
p.E212A
c.635A>C
NM_022780.4
p.C354S
c.1060T>A
NM_022780.4
p.C354S
c.1061G>C
NM_022780.4
p.E42Q
c.124G>C
NM_022780.4
p.L53V
c.157T>G
NM_022780.4
p.V104M
c.310G>A
NM_022780.4
p.E120E
c.360G>A
NM_022780.4
p.E174Splc
c.521+1G>T
NM_022780.4
p.E181K
c.541G>A
NM_022780.4
p.M182I
c.546G>A
NM_022780.4
p.M182I
c.546G>C
NM_022780.4
p.M182I
c.546G>T