Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_014743.3
p.R118*
c.352C>T
NM_014743.3
p.C861R
c.2581T>C
NM_014743.3
p.A877V
c.2630C>T
NM_014743.3
p.P1138S
c.3412C>T
NM_014743.3
p.S1367ins2
c.4100_4101ins6
NM_014743.3
p.S16R
c.46A>C
NM_014743.3
p.S16R
c.48C>A
NM_014743.3
p.S16R
c.48C>G
NM_014743.3
p.S17T
c.49T>A
NM_014743.3
p.E29D
c.87A>C
NM_014743.3
p.E29D
c.87A>T
NM_014743.3
p.H34R
c.101A>G