Papers
RefSeq ID
Protein change
DNA change
1–12 of 111 variants
NM_015245.3
p.G41_G42ins2
c.123_124ins6
NM_015245.3
p.K123_G124ins6
c.367_371ins18
NM_015245.3
p.S47G
c.139A>G
NM_015245.3
p.G49S
c.145G>A
NM_015245.3
p.T547M
c.1640C>T
NM_015245.3
p.R907H
c.2720G>A
NM_015245.3
p.R178H
c.533G>A
NM_015245.3
p.D416N
c.1246G>A
NM_015245.3
p.L694S
c.2081T>C
NM_015245.3
p.E1103D
c.3309A>C
NM_015245.3
p.E1103D
c.3309A>T
NM_015245.3
p.E6Q
c.16G>C