Papers
RefSeq ID
Protein change
DNA change
1–12 of 1557 variants
NM_000518.5
p.E7V
c.20A>T
NM_000518.5
p.E27K
c.79G>A
NM_000518.5
p.F42_F43delFs
c.126_129del4
NM_000518.5
p.R31Splc
c.92+5G>C
NM_000518.5
p.R31Splc
c.93-1G>A
NM_000518.5
p.K18*
c.52A>T
NM_000518.5
p.R105_L106Splc
c.316-1G>A
NM_000518.5
p.Q40*
c.118C>T
NM_000518.5
p.R31Splc
c.93-1G>T
NM_000518.5
p.R105_L106Splc
c.316-197C>T
NM_000518.5
p.R31Splc
c.92+1G>T
NM_000518.5
p.R31Splc
c.93-21G>A