Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_001358451.3
p.R12K
c.35G>A
NM_001358451.3
p.R31Splc
c.92+86C>T
NM_001358451.3
p.L32V
c.94C>G
NM_001358451.3
p.R42Q
c.125G>A
NM_001358451.3
p.D52Y
c.154G>T
NM_001358451.3
p.H56R
c.167A>G
NM_001358451.3
p.S75F
c.224C>T
NM_001358451.3
p.H119_H120Splc
c.358-6C>T
NM_001358451.3
p.L141L
c.423A>G
NM_001358451.3
p.E186V
c.557A>T
NM_001358451.3
p.E188K
c.562G>A
NM_001358451.3
p.S199A
c.595T>G