Papers
RefSeq ID
Protein change
DNA change
1–12 of 200 variants
NM_020791.4
p.S111F
c.332C>T
NM_020791.4
p.R150I
c.449G>T
NM_020791.4
p.L167R
c.500T>G
NM_020791.4
p.L315F
c.943C>T
NM_020791.4
p.L548P
c.1643T>C
NM_020791.4
p.E17G
c.50A>G
NM_020791.4
p.E220*
c.658G>T
NM_020791.4
p.M231V
c.691A>G
NM_020791.4
p.K298E
c.892A>G
NM_020791.4
p.R702*
c.2104C>T
NM_020791.4
p.L790fs
c.2368_2369fs
NM_020791.4
p.R269Q
c.806G>A