Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_145003.5
p.F18L
c.52T>C
NM_145003.5
p.F18L
c.54C>G
NM_145003.5
p.F18L
c.54C>A
NM_145003.5
p.R55P
c.164G>C
NM_145003.5
p.T118A
c.352A>G
NM_145003.5
p.S2P
c.4T>C
NM_145003.5
p.S2*
c.5C>A
NM_145003.5
p.A7Fs
c.20delinsTTFs
NM_145003.5
p.G9A
c.26G>C
NM_145003.5
p.T36_E37del1
c.108_110delTCG
NM_145003.5
p.P46S
c.136C>T
NM_145003.5
p.P44_P46delFs
c.132_138del7