Papers
RefSeq ID
Protein change
DNA change
1–12 of 326 variants
NM_006204.4
p.R29W
c.85C>T
NM_006204.4
p.R565Q
c.1694G>A
NM_006204.4
p.E591K
c.1771G>A
NM_006204.4
p.R102W
c.304C>T
NM_006204.4
p.S270T
c.808T>A
NM_006204.4
p.R313_E314Splc
c.939+5G>A
NM_006204.4
p.Y323N
c.967T>A
NM_006204.4
p.M455V
c.1363A>G
NM_006204.4
p.H602L
c.1805A>T
NM_006204.4
p.E790K
c.2368G>A
NM_006204.4
p.R104W
c.310C>T
NM_006204.4
p.K160_N161Splc
c.481-12T>A