Papers
RefSeq ID
Protein change
DNA change
1–12 of 35 variants
NM_001884.4
p.R333H
c.998G>A
NM_001884.4
p.G336S
c.1006G>A
NM_001884.4
p.L6_L7del1
c.18_20delAGA
NM_001884.4
p.N21K
c.63C>G
NM_001884.4
p.N21K
c.63C>A
NM_001884.4
p.H31Q
c.93C>G
NM_001884.4
p.H31Q
c.93C>A
NM_001884.4
p.A34Splc
c.100+2T>C
NM_001884.4
p.R53*
c.157A>T
NM_001884.4
p.T68A
c.202A>G
NM_001884.4
p.A69S
c.205G>T
NM_001884.4
p.R78Q
c.233G>A