Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_001320485.2
p.H10Y
c.28C>T
NM_001320485.2
p.N13K
c.39C>A
NM_001320485.2
p.V40M
c.118G>A
NM_001320485.2
p.A42T
c.124G>A
NM_001320485.2
p.E48Q
c.142G>C
NM_001320485.2
p.R62H
c.185G>A
NM_001320485.2
p.G72R
c.214G>A
NM_001320485.2
p.G72R
c.214G>C
NM_001320485.2
p.K88*
c.262A>T
NM_001320485.2
p.R96G
c.286C>G
NM_001320485.2
p.V138M
c.412G>A
NM_001320485.2
p.D235G
c.704A>G