Papers
RefSeq ID
Protein change
DNA change
1–12 of 195 variants
NM_002317.7
p.R158Q
c.473G>A
NM_002317.7
p.V167V
c.501G>C
NM_002317.7
p.R141L
c.422G>T
NM_002317.7
p.M298R
c.893T>G
NM_002317.7
p.P159Q
c.476C>A
NM_002317.7
p.S280R
c.838A>C
NM_002317.7
p.S280R
c.840C>G
NM_002317.7
p.S280R
c.840C>A
NM_002317.7
p.A75A
c.225C>G
NM_002317.7
p.W42*
c.125G>A
NM_002317.7
p.W42*
c.126G>A
NM_002317.7
p.P32L
c.95C>T