Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_021168.5
p.R172C
c.514C>T
NM_021168.5
p.Q271fs
c.811_812fs
NM_021168.5
p.A39T
c.115G>A
NM_021168.5
p.G48Splc
c.143-4G>A
NM_021168.5
p.R61W
c.181C>T
NM_021168.5
p.Q73L
c.218A>T
NM_021168.5
p.F76V
c.226T>G
NM_021168.5
p.Q88_G89Splc
c.264+1G>A
NM_021168.5
p.G89W
c.265G>T
NM_021168.5
p.L92F
c.276G>T
NM_021168.5
p.S101F
c.302C>T
NM_021168.5
p.P137P
c.411G>A