Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_207113.3
p.V65L
c.193G>T
NM_207113.3
p.V65L
c.193G>C
NM_207113.3
p.P294L
c.881C>T
NM_207113.3
p.Q8fs
c.22_23fs
NM_207113.3
p.Q8_S11delFs
c.23_32del10
NM_207113.3
p.H72R
c.215A>G
NM_207113.3
p.L82R
c.245T>G
NM_207113.3
p.G85S
c.253G>A
NM_207113.3
p.G85D
c.254G>A
NM_207113.3
p.G85G
c.255C>A
NM_207113.3
p.G98V
c.293G>T
NM_207113.3
p.G103D
c.308G>A