Papers
RefSeq ID
Protein change
DNA change
1–12 of 31 variants
NM_001174072.3
p.M1I
c.3G>T
NM_001174072.3
p.M1I
c.3G>C
NM_001174072.3
p.M1I
c.3G>A
NM_001174072.3
p.Q4H
c.12G>C
NM_001174072.3
p.L41L
c.123C>G
NM_001174072.3
p.M53V
c.157A>G
NM_001174072.3
p.M54I
c.162G>C
NM_001174072.3
p.A59S
c.175G>T
NM_001174072.3
p.H65_I66Splc
c.196-10T>C
NM_001174072.3
p.M72V
c.214A>G
NM_001174072.3
p.E83K
c.247G>A
NM_001174072.3
p.K116R
c.347A>G