Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001135629.3
p.L536fs
c.1606_1607fs
Surrounding Variants
NM_001135629.3
p.L536insFs
c.1607dupT
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
NM_001135629.3
p.N624D
c.1870A>G
NM_001135629.3
p.A633S
c.1897G>T
NM_001135629.3
p.Q641*
c.1921C>T
NM_001135629.3
p.L645_I646Splc
c.1935+5G>A
NM_001135629.3
p.K533_P534Splc
c.1599+127G>T
NM_001135629.3
p.E515K
c.1543G>A