Papers
RefSeq ID
Protein change
DNA change
1–12 of 704 variants
NM_000390.4
p.R253*
c.757C>T
NM_000390.4
p.R293*
c.877C>T
NM_000390.4
p.R267*
c.799C>T
NM_000390.4
p.R270*
c.808C>T
NM_000390.4
p.R239*
c.715C>T
NM_000390.4
p.F528_V529delFs
c.1584_1587del4
NM_000390.4
p.T175_G176delFs
c.525_526delCT
NM_000390.4
p.S105_Q106delFs
c.315_318del4
NM_000390.4
p.V529fs
c.1585_1586fs
NM_000390.4
p.Y42*
c.126C>G
NM_000390.4
p.Y42*
c.126C>A
NM_000390.4
p.S39Splc
c.116+1G>A