Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_001099269.3
p.E304K
c.910G>A
NM_001099269.3
p.E366delFs
c.1096delC
NM_001099269.3
p.E366fs
c.1096_1097fs
NM_001099269.3
p.F6I
c.16T>A
NM_001099269.3
p.L34V
c.100T>G
NM_001099269.3
p.V47D
c.140T>A
NM_001099269.3
p.T54A
c.160A>G
NM_001099269.3
p.L133_K134delFs
c.398_402del5
NM_001099269.3
p.T140A
c.418A>G
NM_001099269.3
p.T168insFs
c.502_503ins4
NM_001099269.3
p.T168fs
c.502_503fs
NM_001099269.3
p.S172fs
c.514_515fs