Papers
RefSeq ID
Protein change
DNA change
1–12 of 100 variants
NM_001163560.3
p.N64I
c.191A>T
NM_001163560.3
p.V228Splc
c.683-1G>A
NM_001163560.3
p.R272*
c.814C>T
NM_001163560.3
p.T406T
c.1218G>A
NM_001163560.3
p.S366delFs
c.1098delG
NM_001163560.3
p.S366fs
c.1096_1097fs
NM_001163560.3
p.I261T
c.782T>C
NM_001163560.3
p.I380_D381delFs
c.1140_1143del4
NM_001163560.3
p.S176_V177Splc
c.528+3A>C
NM_001163560.3
p.D212N
c.634G>A
NM_001163560.3
p.A326T
c.976G>A
NM_001163560.3
p.C345fs
c.1033_1034fs