Papers
RefSeq ID
Protein change
DNA change
1–12 of 248 variants
NM_017738.4
p.Q363*
c.1087C>T
NM_017738.4
p.H848Y
c.2542C>T
NM_017738.4
p.M1V
c.1A>G
NM_017738.4
p.M1insFs
c.3dupG
NM_017738.4
p.M1I
c.3G>A
NM_017738.4
p.G59S
c.175G>A
NM_017738.4
p.P69S
c.205C>T
NM_017738.4
p.P69_G70insFs
c.207_208insG
NM_017738.4
p.H76Y
c.226C>T
NM_017738.4
p.L79V
c.235C>G
NM_017738.4
p.E106K
c.316G>A
NM_017738.4
p.E207_F208insG
c.619_623ins3