Papers
RefSeq ID
Protein change
DNA change
1–12 of 19 variants
NM_016045.3
p.A20S
c.58G>T
NM_016045.3
p.P26Q
c.77C>A
NM_016045.3
p.V38_L39delFs
c.112_115del4
NM_016045.3
p.D40E
c.120C>G
NM_016045.3
p.S46C
c.137C>G
NM_016045.3
p.K48_L49delFs
c.142_145del4
NM_016045.3
p.E58Q
c.172G>C
NM_016045.3
p.P62insFs
c.185dupC
NM_016045.3
p.S63fs
c.187_188fs
NM_016045.3
p.R109*
c.325A>T
NM_016045.3
p.H115Y
c.343C>T
NM_016045.3
p.Y112_H115delFs
c.336_343del8