Papers
RefSeq ID
Protein change
DNA change
1–12 of 123 variants
NM_033260.4
p.E338G
c.1013A>G
NM_033260.4
p.T60P
c.178A>C
NM_033260.4
p.Q61P
c.182A>C
NM_033260.4
p.Q16L
c.47A>T
NM_033260.4
p.A47T
c.139G>A
NM_033260.4
p.E107K
c.319G>A
NM_033260.4
p.E107Q
c.319G>C
NM_033260.4
p.L20P
c.59T>C
NM_033260.4
p.S42*
c.125C>A
NM_033260.4
p.S42*
c.125C>G
NM_033260.4
p.C46S
c.137G>C
NM_033260.4
p.T60_Q61delins
c.178_182delinsCCGCC