Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_144578.4
p.S6L
c.17C>T
NM_144578.4
p.S6_L7Splc
c.18+2T>G
NM_144578.4
p.P39L
c.116C>T
NM_144578.4
p.P43L
c.128C>T
NM_144578.4
p.P46L
c.137C>T
NM_144578.4
p.P82S
c.244C>T
NM_144578.4
p.P82L
c.245C>T
NM_144578.4
p.P90S
c.268C>T
NM_144578.4
p.P90L
c.269C>T
NM_144578.4
p.E125Q
c.373G>C
NM_144578.4
p.S147F
c.440C>T
NM_144578.4
p.P187L
c.560C>T