Papers
RefSeq ID
Protein change
DNA change
1–12 of 80 variants
NM_004905.3
p.C47S
c.139T>A
NM_004905.3
p.C47S
c.140G>C
NM_004905.3
p.S32A
c.94T>G
NM_004905.3
p.D140A
c.419A>C
NM_004905.3
p.C91S
c.271T>A
NM_004905.3
p.C91S
c.272G>C
NM_004905.3
p.K122R
c.365A>G
NM_004905.3
p.K199insFs
c.595dupA
NM_004905.3
p.A16D
c.47C>A
NM_004905.3
p.D42A
c.125A>C
NM_004905.3
p.K142R
c.425A>G
NM_004905.3
p.T153I
c.458C>T