Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001129993.3
p.R711H
c.2132G>A
NM_001129993.3
p.M1I
c.3G>A
NM_001129993.3
p.M1I
c.3G>C
NM_001129993.3
p.M1I
c.3G>T
NM_001129993.3
p.E50_C51Splc
c.150+8A>G
NM_001129993.3
p.A76S
c.226G>T
NM_001129993.3
p.T102N
c.305C>A
NM_001129993.3
p.G105R
c.313G>A
NM_001129993.3
p.G105R
c.313G>C
NM_001129993.3
p.V109I
c.325G>A
NM_001129993.3
p.C123F
c.368G>T
NM_001129993.3
p.M147I
c.441G>A