Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001005272.3
p.E296K
c.886G>A
NM_001005272.3
p.N6S
c.17A>G
NM_001005272.3
p.K23N
c.69A>C
NM_001005272.3
p.K23N
c.69A>T
NM_001005272.3
p.L219Q
c.656T>A
NM_001005272.3
p.R120C
c.358C>T
NM_001005272.3
p.V160M
c.478G>A
NM_001005272.3
p.G14D
c.41G>A
NM_001005272.3
p.F15I
c.43T>A
NM_001005272.3
p.Q17*
c.49C>T
NM_001005272.3
p.M57L
c.169A>C
NM_001005272.3
p.M57L
c.169A>T