Papers
RefSeq ID
Protein change
DNA change
1–12 of 16 variants
NM_001003693.3
p.P34Q
c.101C>A
NM_001003693.3
p.A107T
c.319G>A
NM_001003693.3
p.P192R
c.575C>G
NM_001003693.3
p.R195Q
c.584G>A
NM_001003693.3
p.M1K
c.2T>A
NM_001003693.3
p.M1T
c.2T>C
NM_001003693.3
p.M1R
c.2T>G
NM_001003693.3
p.A17E
c.50C>A
NM_001003693.3
p.D18Splc
c.52+2T>A
NM_001003693.3
p.D18Splc
c.52+2T>G
NM_001003693.3
p.V31E
c.92T>A
NM_001003693.3
p.G87R
c.259G>A