Papers
RefSeq ID
Protein change
DNA change
1–12 of 50 variants
NM_138423.4
p.Q113H
c.339G>C
NM_138423.4
p.Q113H
c.339G>T
NM_138423.4
p.K346N
c.1038G>C
NM_138423.4
p.K346N
c.1038G>T
NM_138423.4
p.L13M
c.37C>A
NM_138423.4
p.L18M
c.52C>A
NM_138423.4
p.Q54K
c.160C>A
NM_138423.4
p.G61E
c.182G>A
NM_138423.4
p.L63V
c.187C>G
NM_138423.4
p.K65*
c.193A>T
NM_138423.4
p.K78E
c.232A>G
NM_138423.4
p.K79R
c.236A>G