Papers
RefSeq ID
Protein change
DNA change
1–12 of 186 variants
NM_016327.3
p.R326Q
c.977G>A
NM_016327.3
p.A306Splc
c.917-1G>A
NM_016327.3
p.R35Splc
c.105-2A>G
NM_016327.3
p.A85E
c.254C>A
NM_016327.3
p.G31S
c.91G>A
NM_016327.3
p.S264R
c.790A>C
NM_016327.3
p.S264R
c.792C>A
NM_016327.3
p.S264R
c.792C>G
NM_016327.3
p.T291_E292Splc
c.873+1G>A
NM_016327.3
p.I166V
c.496A>G
NM_016327.3
p.L13S
c.38T>C
NM_016327.3
p.G235R
c.703G>A