Papers
RefSeq ID
Protein change
DNA change
1–12 of 213 variants
NM_001482.3
p.W149*
c.446G>A
NM_001482.3
p.W149*
c.447G>A
NM_001482.3
p.Q110H
c.330A>T
NM_001482.3
p.Q110H
c.330A>C
NM_001482.3
p.G162Splc
c.484+1G>T
NM_001482.3
p.P341L
c.1022C>T
NM_001482.3
p.R169*
c.505C>T
NM_001482.3
p.P320S
c.958C>T
NM_001482.3
p.T336A
c.1006A>G
NM_001482.3
p.T336I
c.1007C>T
NM_001482.3
p.M371insFs
c.1111dupA
NM_001482.3
p.Y203S
c.608A>C