Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_014672.4
p.A485V
c.1454C>T
NM_014672.4
p.N412S
c.1235A>G
NM_014672.4
p.R421C
c.1261C>T
NM_014672.4
p.A434D
c.1301C>A
NM_014672.4
p.R445Q
c.1334G>A
NM_014672.4
p.H83delFs
c.249delT
NM_014672.4
p.K399insFs
c.1197dupA
NM_014672.4
p.F198S
c.593T>C
NM_014672.4
p.E228K
c.682G>A
NM_014672.4
p.H321Q
c.963C>A
NM_014672.4
p.H321Q
c.963C>G
NM_014672.4
p.Y365H
c.1093T>C