Papers
RefSeq ID
Protein change
DNA change
1–12 of 34 variants
NM_016495.6
p.S46C
c.136A>T
NM_016495.6
p.L114R
c.341T>G
NM_016495.6
p.L114Q
c.341T>A
NM_016495.6
p.S124A
c.370T>G
NM_016495.6
p.A136T
c.406G>A
NM_016495.6
p.V149V
c.447C>A
NM_016495.6
p.R222Splc
c.665+8G>A
NM_016495.6
p.Q6_R7delFs
c.17_20del4
NM_016495.6
p.R36H
c.107G>A
NM_016495.6
p.M54T
c.161T>C
NM_016495.6
p.G65Splc
c.193+47G>A
NM_016495.6
p.G65Splc
c.194-2A>G