Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_003012.5
p.R5delFs
c.13_14delCG
NM_003012.5
p.A13_A14del1
c.39_41delGCT
NM_003012.5
p.A13_A14del2
c.37_41del6
NM_003012.5
p.F39_S41del3
c.115_122del9
NM_003012.5
p.C58Y
c.173G>A
NM_003012.5
p.G253G
c.759G>T
NM_003012.5
p.M1I
c.3G>A
NM_003012.5
p.M1delFs
c.2delA
NM_003012.5
p.G2_I3insFs
c.6_9dup4
NM_003012.5
p.G4E
c.11G>A
NM_003012.5
p.E7A
c.20A>C
NM_003012.5
p.G8W
c.22G>T