Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_001465.6
p.W131*
c.393G>A
NM_001465.6
p.W131*
c.392G>A
NM_001465.6
p.G324insFs
c.971dupG
NM_001465.6
p.Y462delFs
c.1385_1386delAT
NM_001465.6
p.Y571F
c.1712A>T
NM_001465.6
p.T6M
c.17C>T
NM_001465.6
p.T11K
c.32C>A
NM_001465.6
p.K36N
c.108G>T
NM_001465.6
p.K36N
c.108G>C
NM_001465.6
p.P47R
c.140C>G
NM_001465.6
p.P81L
c.242C>T
NM_001465.6
p.P202L
c.605C>T