Papers
RefSeq ID
Protein change
DNA change
1–12 of 501 variants
NM_000273.3
p.R245*
c.733C>T
NM_000273.3
p.E235K
c.703G>A
NM_000273.3
p.G118E
c.353G>A
NM_000273.3
p.W292G
c.874T>G
NM_000273.3
p.G84D
c.251G>A
NM_000273.3
p.C116R
c.346T>C
NM_000273.3
p.W133R
c.397T>C
NM_000273.3
p.W133R
c.397T>A
NM_000273.3
p.A173D
c.518C>A
NM_000273.3
p.V220Splc
c.658+1G>A
NM_000273.3
p.G35D
c.104G>A
NM_000273.3
p.S89F
c.266C>T