Papers
RefSeq ID
Protein change
DNA change
1–12 of 225 variants
NM_014345.3
p.R38G
c.112C>G
NM_014345.3
p.R300*
c.898C>T
NM_014345.3
p.R525*
c.1573C>T
NM_014345.3
p.L870V
c.2608C>G
NM_014345.3
p.P1446L
c.4337C>T
NM_014345.3
p.V1797A
c.5390T>C
NM_014345.3
p.P93L
c.278C>T
NM_014345.3
p.R263*
c.787C>T
NM_014345.3
p.R325*
c.973C>T
NM_014345.3
p.R614H
c.1841G>A
NM_014345.3
p.R853*
c.2557C>T
NM_014345.3
p.R931Q
c.2792G>A