Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_001003703.2
p.R22W
c.64C>T
NM_001003703.2
p.Y50*
c.150C>G
NM_001003703.2
p.M1V
c.1A>G
NM_001003703.2
p.M1T
c.2T>C
NM_001003703.2
p.I13T
c.38T>C
NM_001003703.2
p.I39T
c.116T>C
NM_001003703.2
p.Q40insFs
c.118_119insGT
NM_001003703.2
p.R48T
c.143G>C
NM_001003703.2
p.Y50*
c.150C>A
NM_001003703.2
p.R54delFs
c.161delC
NM_001003703.2
p.G59G
c.177A>T
NM_001003703.2
p.Q68_E72delFs
c.204_214del11