Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_020879.3
p.R250C
c.748C>T
NM_020879.3
p.R362*
c.1084C>T
NM_020879.3
p.R250fs
c.748_749fs
NM_020879.3
p.N345S
c.1034A>G
NM_020879.3
p.R460H
c.1379G>A
NM_020879.3
p.I466T
c.1397T>C
NM_020879.3
p.R509W
c.1525C>T
NM_020879.3
p.M821L
c.2461A>C
NM_020879.3
p.M821L
c.2461A>T
NM_020879.3
p.P910R
c.2729C>G
NM_020879.3
p.Q21Q
c.63A>G
NM_020879.3
p.D35_D40del0
c.105_119del15