Papers
RefSeq ID
Protein change
DNA change
1–12 of 86 variants
NM_032018.7
p.E112A
c.335A>C
NM_032018.7
p.Y117C
c.350A>G
NM_032018.7
p.E112Q
c.334G>C
NM_032018.7
p.P296L
c.887C>T
NM_032018.7
p.K241delFs
c.721delA
NM_032018.7
p.T439S
c.1315A>T
NM_032018.7
p.T439S
c.1316C>G
NM_032018.7
p.D473A
c.1418A>C
NM_032018.7
p.L48delFs
c.142_143delCT
NM_032018.7
p.L48fs
c.142_143fs
NM_032018.7
p.E107Q
c.319G>C
NM_032018.7
p.K125N
c.375A>C