Papers
RefSeq ID
Protein change
DNA change
1–12 of 98 variants
NM_014227.3
p.R558H
c.1673G>A
NM_014227.3
p.T4M
c.11C>T
NM_014227.3
p.E139*
c.415G>T
NM_014227.3
p.V143fs
c.427_428fs
NM_014227.3
p.I210T
c.629T>C
NM_014227.3
p.R267*
c.799C>T
NM_014227.3
p.R336H
c.1007G>A
NM_014227.3
p.E457Q
c.1369G>C
NM_014227.3
p.R499C
c.1495C>T
NM_014227.3
p.R499H
c.1496G>A
NM_014227.3
p.P17H
c.50C>A
NM_014227.3
p.A27T
c.79G>A