Papers
RefSeq ID
Protein change
DNA change
1–12 of 92 variants
NM_016122.3
p.R209*
c.625C>T
NM_016122.3
p.R209Q
c.626G>A
NM_016122.3
p.R303*
c.907C>T
NM_016122.3
p.E669fs
c.2005_2006fs
NM_016122.3
p.E669delFs
c.2007delT
NM_016122.3
p.E116*
c.346G>T
NM_016122.3
p.L194P
c.581T>C
NM_016122.3
p.L137P
c.410T>C
NM_016122.3
p.Y426*
c.1278T>G
NM_016122.3
p.Y426*
c.1278T>A
NM_016122.3
p.R511P
c.1532G>C
NM_016122.3
p.E530*
c.1588G>T