Papers
RefSeq ID
Protein change
DNA change
1–12 of 284 variants
NM_022166.4
p.A115S
c.343G>T
NM_022166.4
p.R481W
c.1441C>T
NM_022166.4
p.R598C
c.1792C>T
NM_022166.4
p.R551C
c.1651C>T
NM_022166.4
p.R147*
c.439C>T
NM_022166.4
p.E529_S530Splc
c.1588-3C>T
NM_022166.4
p.S801C
c.2402C>G
NM_022166.4
p.R430Splc
c.1290-2A>C
NM_022166.4
p.P93fs
c.277_278fs
NM_022166.4
p.Q199*
c.595C>T
NM_022166.4
p.P385L
c.1154C>T
NM_022166.4
p.R406W
c.1216C>T