Papers
RefSeq ID
Protein change
DNA change
1–12 of 69 variants
NM_001017361.3
p.M1V
c.1A>G
NM_001017361.3
p.A201G
c.602C>G
NM_001017361.3
p.D108_Y109delFs
c.322_325del4
NM_001017361.3
p.D108fs
c.322_323fs
NM_001017361.3
p.Q15delFs
c.44delA
NM_001017361.3
p.E97Q
c.289G>C
NM_001017361.3
p.M1I
c.3G>T
NM_001017361.3
p.R6fs
c.16_17fs
NM_001017361.3
p.Q15fs
c.43_44fs
NM_001017361.3
p.I100fs
c.298_299fs
NM_001017361.3
p.G117Splc
c.349+1G>A
NM_001017361.3
p.I100_K101delFs
c.299_302del4