Papers
RefSeq ID
Protein change
DNA change
1–12 of 60 variants
NM_001080474.3
p.P455L
c.1364C>T
NM_001080474.3
p.P404S
c.1210C>T
NM_001080474.3
p.G696S
c.2086G>A
NM_001080474.3
p.E33Splc
c.97+102A>G
NM_001080474.3
p.R47W
c.139C>T
NM_001080474.3
p.Q81K
c.241C>A
NM_001080474.3
p.M159T
c.476T>C
NM_001080474.3
p.G208E
c.623G>A
NM_001080474.3
p.Q222E
c.664C>G
NM_001080474.3
p.E278ins4
c.833_834ins12
NM_001080474.3
p.L323V
c.967C>G
NM_001080474.3
p.T367I
c.1100C>T