Papers
RefSeq ID
Protein change
DNA change
1–12 of 761 variants
NM_000501.4
p.P521L
c.1562C>T
NM_000501.4
p.G422S
c.1264G>A
NM_000501.4
p.Q442*
c.1324C>T
NM_000501.4
p.G153D
c.458G>A
NM_000501.4
p.G267Splc
c.800-3C>G
NM_000501.4
p.G384Splc
c.1150+1G>A
NM_000501.4
p.G610R
c.1828G>C
NM_000501.4
p.R541*
c.1621C>T
NM_000501.4
p.G581R
c.1741G>C
NM_000501.4
p.G711D
c.2132G>A
NM_000501.4
p.A55V
c.164C>T
NM_000501.4
p.Y150*
c.450C>A