Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_004846.4
p.Y60H
c.178T>C
NM_004846.4
p.P72A
c.214C>G
NM_004846.4
p.Q93*
c.277C>T
NM_004846.4
p.K121R
c.362A>G
NM_004846.4
p.K130R
c.389A>G
NM_004846.4
p.K134R
c.401A>G
NM_004846.4
p.R202Q
c.605G>A
NM_004846.4
p.K222R
c.665A>G
NM_004846.4
p.N3Y
c.7A>T
NM_004846.4
p.D6Y
c.16G>T
NM_004846.4
p.N22delFs
c.66delC
NM_004846.4
p.D27N
c.79G>A