Papers
RefSeq ID
Protein change
DNA change
1–12 of 380 variants
NM_004100.5
p.R587*
c.1759C>T
NM_004100.5
p.G277S
c.829G>A
NM_004100.5
p.S288*
c.863C>A
NM_004100.5
p.S288*
c.863C>G
NM_004100.5
p.Q393*
c.1177C>T
NM_004100.5
p.F326L
c.978C>G
NM_004100.5
p.F326L
c.976T>C
NM_004100.5
p.F326L
c.978C>A
NM_004100.5
p.E427_E428Splc
c.1282-12T>A
NM_004100.5
p.I434K
c.1301T>A
NM_004100.5
p.K350insFs
c.1048_1049dupAA
NM_004100.5
p.E490insFs
c.1468_1469insAA