Papers
RefSeq ID
Protein change
DNA change
1–12 of 148 variants
NM_001186.4
p.C574S
c.1720T>A
NM_001186.4
p.K226K
c.678A>G
NM_001186.4
p.A678G
c.2033C>G
NM_001186.4
p.M1insFs
c.2_3insT
NM_001186.4
p.Y11H
c.31T>C
NM_001186.4
p.Y11F
c.32A>T
NM_001186.4
p.A193T
c.577G>A
NM_001186.4
p.E281K
c.841G>A
NM_001186.4
p.Q331R
c.992A>G
NM_001186.4
p.S379insFs
c.1135_1136insA
NM_001186.4
p.R532W
c.1594C>T
NM_001186.4
p.R538Q
c.1613G>A