Papers
RefSeq ID
Protein change
DNA change
1–12 of 114 variants
NM_004821.3
p.A126fs
c.376_377fs
NM_004821.3
p.G73S
c.217G>A
NM_004821.3
p.K152N
c.456G>T
NM_004821.3
p.K152N
c.456G>C
NM_004821.3
p.A58E
c.173C>A
NM_004821.3
p.T107A
c.319A>G
NM_004821.3
p.N2D
c.4A>G
NM_004821.3
p.H10Y
c.28C>T
NM_004821.3
p.H13Y
c.37C>T
NM_004821.3
p.L28H
c.83T>A
NM_004821.3
p.P54P
c.162G>A
NM_004821.3
p.R84L
c.251G>T