Papers
RefSeq ID
Protein change
DNA change
1–12 of 97 variants
NM_016030.6
p.S301G
c.901A>G
NM_016030.6
p.E49fs
c.145_146fs
NM_016030.6
p.A627V
c.1880C>T
NM_016030.6
p.A22T
c.64G>A
NM_016030.6
p.E49delFs
c.145delG
NM_016030.6
p.E121fs
c.361_362fs
NM_016030.6
p.L591L
c.1773G>C
NM_016030.6
p.P120insFs
c.360dupC
NM_016030.6
p.Q149*
c.445C>T
NM_016030.6
p.G415E
c.1244G>A
NM_016030.6
p.Q426_L427Splc
c.1279-2A>G
NM_016030.6
p.A485T
c.1453G>A