Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_013352.4
p.S268L
c.803C>T
NM_013352.4
p.R267G
c.799A>G
NM_013352.4
p.P384fs
c.1150_1151fs
NM_013352.4
p.H588R
c.1763A>G
NM_013352.4
p.Y320*
c.960T>A
NM_013352.4
p.Y320*
c.960T>G
NM_013352.4
p.V333fs
c.997_998fs
NM_013352.4
p.P384_F386delFs
c.1150_1157del8
NM_013352.4
p.I282V
c.844A>G
NM_013352.4
p.F332insFs
c.996dupT
NM_013352.4
p.Y867*
c.2601C>A
NM_013352.4
p.Y867*
c.2601C>G