Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_003953.6
p.I122V
c.364A>G
NM_003953.6
p.Y241F
c.722A>T
NM_003953.6
p.Y263F
c.788A>T
NM_003953.6
p.M1I
c.3G>A
NM_003953.6
p.S16R
c.46A>C
NM_003953.6
p.S16R
c.48C>A
NM_003953.6
p.S16R
c.48C>G
NM_003953.6
p.L20L
c.60G>A
NM_003953.6
p.L30L
c.90C>G
NM_003953.6
p.L31Splc
c.92-3532C>T
NM_003953.6
p.G34A
c.101G>C
NM_003953.6
p.T42T
c.126G>A