Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001135629.3
p.E515K
c.1543G>A
Surrounding Variants
NM_001135629.3
p.K533_P534Splc
c.1599+127G>T
NM_001135629.3
p.S472*
c.1415C>A
NM_001135629.3
p.S472*
c.1415C>G
NM_001135629.3
p.Y445H
c.1333T>C
NM_001135629.3
p.D440fs
c.1318_1319fs
NM_001135629.3
p.L536insFs
c.1607dupT
NM_001135629.3
p.L536fs
c.1606_1607fs
NM_001135629.3
p.A544P
c.1630G>C
NM_001135629.3
p.R548C
c.1642C>T
NM_001135629.3
p.Q566R
c.1697A>G
NM_001135629.3
p.D602Y
c.1804G>T
NM_001135629.3
p.N619S
c.1856A>G