Papers
RefSeq ID
Protein change
DNA change
1–12 of 22 variants
NM_173549.3
p.S100F
c.299C>T
NM_173549.3
p.Q246*
c.736C>T
NM_173549.3
p.G45E
c.134G>A
NM_173549.3
p.E57_L65del9
c.169_194del27
NM_173549.3
p.E57_L65del0
c.170_193del24
NM_173549.3
p.G119D
c.356G>A
NM_173549.3
p.E166G
c.497A>G
NM_173549.3
p.S169P
c.505T>C
NM_173549.3
p.T190A
c.568A>G
NM_173549.3
p.Q214fs
c.640_641fs
NM_173549.3
p.Q214delFs
c.641delA
NM_173549.3
p.T220A
c.658A>G