Papers
RefSeq ID
Protein change
DNA change
1–12 of 517 variants
NM_005609.4
p.R50*
c.148C>T
NM_005609.4
p.G205S
c.613G>A
NM_005609.4
p.W798R
c.2392T>C
NM_005609.4
p.W798R
c.2392T>A
NM_005609.4
p.R94W
c.280C>T
NM_005609.4
p.K754delFs
c.2262delT
NM_005609.4
p.A365V
c.1094C>T
NM_005609.4
p.F710del1
c.2128_2129delGAA
NM_005609.4
p.R576*
c.1726C>T
NM_005609.4
p.M1V
c.1A>G
NM_005609.4
p.R590Splc
c.1768+1G>A
NM_005609.4
p.V456M
c.1366G>A