Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_175907.6
p.V300I
c.898G>A
NM_175907.6
p.C323F
c.968G>T
NM_175907.6
p.R46H
c.137G>A
NM_175907.6
p.E47Q
c.139G>C
NM_175907.6
p.T50N
c.149C>A
NM_175907.6
p.R70*
c.208C>T
NM_175907.6
p.R70*
c.208C>T
NM_175907.6
p.G73V
c.218G>T
NM_175907.6
p.V74F
c.220G>T
NM_175907.6
p.N75N
c.225C>T
NM_175907.6
p.F129F
c.387T>C
NM_175907.6
p.V143fs
c.427_428fs