Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_138379.3
p.V240A
c.719T>C
NM_138379.3
p.E30K
c.88G>A
NM_138379.3
p.R35Q
c.104G>A
NM_138379.3
p.Q366H
c.1098G>T
NM_138379.3
p.Q366H
c.1098G>C
NM_138379.3
p.M1I
c.3G>T
NM_138379.3
p.L6L
c.18C>A
NM_138379.3
p.W15L
c.44G>T
NM_138379.3
p.T20Splc
c.58+1363G>A
NM_138379.3
p.T29M
c.86C>T
NM_138379.3
p.L38F
c.114G>T
NM_138379.3
p.L38F
c.114G>C