Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_001012502.3
p.V126L
c.376G>C
NM_001012502.3
p.V126L
c.376G>T
NM_001012502.3
p.A419T
c.1255G>A
NM_001012502.3
p.I43delFs
c.127_128delAT
NM_001012502.3
p.R46P
c.137G>C
NM_001012502.3
p.Q71P
c.212A>C
NM_001012502.3
p.E97*
c.289G>T
NM_001012502.3
p.E115_K116del1
c.344_346delAGA
NM_001012502.3
p.Q122H
c.366G>C
NM_001012502.3
p.Q122H
c.366G>T
NM_001012502.3
p.A124G
c.371C>G
NM_001012502.3
p.R127_H128del2
c.379_383del6