Papers
RefSeq ID
Protein change
DNA change
1–12 of 40 variants
NM_001345843.2
p.Q500R
c.1499A>G
NM_001345843.2
p.L155F
c.463C>T
NM_001345843.2
p.G267R
c.799G>C
NM_001345843.2
p.G267R
c.799G>A
NM_001345843.2
p.L37F
c.111G>T
NM_001345843.2
p.L37F
c.111G>C
NM_001345843.2
p.P43H
c.128C>A
NM_001345843.2
p.E74K
c.220G>A
NM_001345843.2
p.L92V
c.274C>G
NM_001345843.2
p.R124C
c.370C>T
NM_001345843.2
p.L131_E132Splc
c.393+5G>A
NM_001345843.2
p.A135V
c.404C>T