Papers
RefSeq ID
Protein change
DNA change
1–12 of 270 variants
NM_005677.4
p.P361delFs
c.1082delG
NM_005677.4
p.Y430S
c.1289A>C
NM_005677.4
p.W148*
c.444G>A
NM_005677.4
p.R410Q
c.1229G>A
NM_005677.4
p.G240*
c.718G>T
NM_005677.4
p.D342E
c.1026C>G
NM_005677.4
p.W148*
c.443G>A
NM_005677.4
p.D342E
c.1026C>A
NM_005677.4
p.R315*
c.943C>T
NM_005677.4
p.P263insFs
c.788_789insC
NM_005677.4
p.Q371*
c.1111C>T
NM_005677.4
p.C444Y
c.1331G>A