Papers
RefSeq ID
Protein change
DNA change
1–12 of 15 variants
NM_016520.3
p.K6T
c.17A>C
NM_016520.3
p.R28Splc
c.83+1G>C
NM_016520.3
p.E36E
c.108G>A
NM_016520.3
p.D88E
c.264T>G
NM_016520.3
p.D88E
c.264T>A
NM_016520.3
p.H97Q
c.291C>G
NM_016520.3
p.H97Q
c.291C>A
NM_016520.3
p.K140Q
c.418A>C
NM_016520.3
p.N152fs
c.454_455fs
NM_016520.3
p.N152_I153insFs
c.456_457insA
NM_016520.3
p.R154C
c.460C>T
NM_016520.3
p.G251G
c.753T>C