Papers
RefSeq ID
Protein change
DNA change
1–12 of 160 variants
NM_001099293.3
p.R580L
c.1739G>T
NM_001099293.3
p.R713*
c.2137C>T
NM_001099293.3
p.A184T
c.550G>A
NM_001099293.3
p.M309T
c.926T>C
NM_001099293.3
p.H347Q
c.1041C>A
NM_001099293.3
p.H347Q
c.1041C>G
NM_001099293.3
p.L422W
c.1265T>G
NM_001099293.3
p.D509D
c.1527C>T
NM_001099293.3
p.R680H
c.2039G>A
NM_001099293.3
p.Q964K
c.2890C>A
NM_001099293.3
p.N1008K
c.3024T>A
NM_001099293.3
p.N1008K
c.3024T>G