Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_001282680.3
p.V284M
c.850G>A
NM_001282680.3
p.A1086V
c.3257C>T
NM_001282680.3
p.R154*
c.460C>T
NM_001282680.3
p.I415insFs
c.1243_1244dupAT
NM_001282680.3
p.T416fs
c.1246_1247fs
NM_001282680.3
p.T706S
c.2116A>T
NM_001282680.3
p.T706S
c.2117C>G
NM_001282680.3
p.S984delFs
c.2950delT
NM_001282680.3
p.P1092L
c.3275C>T
NM_001282680.3
p.Q1147*
c.3439C>T
NM_001282680.3
p.A1260D
c.3779C>A
NM_001282680.3
p.K3T
c.8A>C