Papers
RefSeq ID
Protein change
DNA change
1–12 of 102 variants
NM_022827.4
p.R207*
c.619C>T
NM_022827.4
p.S499T
c.1495T>A
NM_022827.4
p.D653Splc
c.1957+2T>A
NM_022827.4
p.C27S
c.79T>A
NM_022827.4
p.C27S
c.80G>C
NM_022827.4
p.R51*
c.151C>T
NM_022827.4
p.T54M
c.161C>T
NM_022827.4
p.N95D
c.283A>G
NM_022827.4
p.Q104E
c.310C>G
NM_022827.4
p.P285S
c.853C>T
NM_022827.4
p.V596M
c.1786G>A
NM_022827.4
p.M1insFs
c.2dupT