Papers
RefSeq ID
Protein change
DNA change
1–12 of 278 variants
NM_002863.5
p.D634H
c.1900G>C
NM_002863.5
p.R590Splc
c.1768+1G>A
NM_002863.5
p.Q540_E541Splc
c.1620+1G>A
NM_002863.5
p.Q823*
c.2467C>T
NM_002863.5
p.G233D
c.698G>A
NM_002863.5
p.N377K
c.1131C>G
NM_002863.5
p.V456M
c.1366G>A
NM_002863.5
p.R94*
c.280C>T
NM_002863.5
p.N377K
c.1131C>A
NM_002863.5
p.E673K
c.2017G>A
NM_002863.5
p.R44H
c.131G>A
NM_002863.5
p.G233S
c.697G>A