Papers
RefSeq ID
Protein change
DNA change
1–12 of 412 variants
NM_001003841.3
p.D173N
c.517G>A
NM_001003841.3
p.R240*
c.718C>T
NM_001003841.3
p.L242P
c.725T>C
NM_001003841.3
p.R57C
c.169C>T
NM_001003841.3
p.E501K
c.1501G>A
NM_001003841.3
p.R240Q
c.719G>A
NM_001003841.3
p.A69T
c.205G>A
NM_001003841.3
p.S303L
c.908C>T
NM_001003841.3
p.P265L
c.794C>T
NM_001003841.3
p.G284R
c.850G>A
NM_001003841.3
p.E391_A392Splc
c.1173+2T>G
NM_001003841.3
p.E405K
c.1213G>A