Papers
RefSeq ID
Protein change
DNA change
1–12 of 47 variants
NM_016019.5
p.R27*
c.79C>T
NM_016019.5
p.E83delFs
c.248_249delAA
NM_016019.5
p.D208N
c.622G>A
NM_016019.5
p.E248_E249del2
c.742_746del6
NM_016019.5
p.E248_E249delFs
c.744_745delAG
NM_016019.5
p.R330*
c.988C>T
NM_016019.5
p.M1I
c.3G>A
NM_016019.5
p.M1I
c.3G>C
NM_016019.5
p.M1I
c.3G>T
NM_016019.5
p.M10V
c.28A>G
NM_016019.5
p.R19Q
c.56G>A
NM_016019.5
p.P45L
c.134C>T