Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_001012759.3
p.T291T
c.873G>A
NM_001012759.3
p.T247fs
c.739_740fs
NM_001012759.3
p.L63P
c.188T>C
NM_001012759.3
p.E94_G95Splc
c.282+5G>A
NM_001012759.3
p.I111T
c.332T>C
NM_001012759.3
p.S294*
c.881C>A
NM_001012759.3
p.Q416R
c.1247A>G
NM_001012759.3
p.D49fs
c.145_146fs
NM_001012759.3
p.S154N
c.461G>A
NM_001012759.3
p.H186Y
c.556C>T
NM_001012759.3
p.A237V
c.710C>T
NM_001012759.3
p.M253V
c.757A>G