Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_001011551.3
p.D131E
c.393T>A
NM_001011551.3
p.D131E
c.393T>G
NM_001011551.3
p.E152K
c.454G>A
NM_001011551.3
p.A143V
c.428C>T
NM_001011551.3
p.A20D
c.59C>A
NM_001011551.3
p.T89I
c.266C>T
NM_001011551.3
p.Q222H
c.666G>T
NM_001011551.3
p.Q222H
c.666G>C
NM_001011551.3
p.K54N
c.162A>T
NM_001011551.3
p.R68*
c.202C>T
NM_001011551.3
p.E184E
c.552A>G
NM_001011551.3
p.S193P
c.577T>C