Papers
RefSeq ID
Protein change
DNA change
NM_018711.5
p.V13V
c.39T>A
NM_018711.5
p.M69K
c.206T>A
NM_018711.5
p.S193Splc
c.578+1G>A
NM_018711.5
p.Q271K
c.811C>A
NM_018711.5
p.G398A
c.1193G>C
NM_018711.5
p.R399H
c.1196G>A
NM_018711.5
p.E450A
c.1349A>C
NM_018711.5
p.R457L
c.1370G>T