Papers
RefSeq ID
Protein change
DNA change
1–12 of 163 variants
NM_001428.5
p.S40A
c.118T>G
NM_001428.5
p.D51N
c.151G>A
NM_001428.5
p.V124I
c.370G>A
NM_001428.5
p.K239Q
c.715A>C
NM_001428.5
p.K239N
c.717G>T
NM_001428.5
p.K239N
c.717G>C
NM_001428.5
p.I242V
c.724A>G
NM_001428.5
p.I284M
c.852C>G
NM_001428.5
p.S310N
c.929G>A
NM_001428.5
p.A329T
c.985G>A
NM_001428.5
p.C357Y
c.1070G>A
NM_001428.5
p.K5T
c.14A>C