Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_001100619.3
p.E178K
c.532G>A
NM_001100619.3
p.G312D
c.935G>A
NM_001100619.3
p.P355P
c.1065G>A
NM_001100619.3
p.D463G
c.1388A>G
NM_001100619.3
p.G99_A101del0
c.295_303del9
NM_001100619.3
p.A213_I215del0
c.638_643del6
NM_001100619.3
p.I215fs
c.643_644fs
NM_001100619.3
p.I215insFs
c.644_645insG
NM_001100619.3
p.L240F
c.718C>T
NM_001100619.3
p.R289K
c.866G>A
NM_001100619.3
p.L519V
c.1555C>G
NM_001100619.3
p.L577fs
c.1729_1730fs