Papers
RefSeq ID
Protein change
DNA change
1–12 of 141 variants
NM_052854.4
p.K312del1
c.934_936delAAG
NM_052854.4
p.Y428*
c.1284C>A
NM_052854.4
p.D509fs
c.1525_1526fs
NM_052854.4
p.D200V
c.599A>T
NM_052854.4
p.Y428*
c.1284C>G
NM_052854.4
p.T239M
c.716C>T
NM_052854.4
p.A152T
c.454G>A
NM_052854.4
p.M153R
c.458T>G
NM_052854.4
p.A411T
c.1231G>A
NM_052854.4
p.G92S
c.274G>A
NM_052854.4
p.E189*
c.565G>T
NM_052854.4
p.L201P
c.602T>C