Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_171830.2
p.Q18L
c.53A>T
NM_171830.2
p.I255delFs
c.765delT
NM_171830.2
p.A49T
c.145G>A
NM_171830.2
p.E87G
c.260A>G
NM_171830.2
p.N161S
c.482A>G
NM_171830.2
p.K251fs
c.751_752fs
NM_171830.2
p.K251delFs
c.752delT
NM_171828.3
p.F4L
c.10T>C
NM_171828.3
p.F4L
c.12C>G
NM_171828.3
p.F4L
c.12C>A
NM_171830.2
p.Q18*
c.52C>T
NM_171830.2
p.E51K
c.151G>A