Papers
RefSeq ID
Protein change
DNA change
1–12 of 65 variants
NM_032730.5
p.R103H
c.308G>A
NM_032730.5
p.G216R
c.646G>A
NM_032730.5
p.K201*
c.601A>T
NM_032730.5
p.G216R
c.646G>C
NM_032730.5
p.P269Splc
c.806+1G>A
NM_032730.5
p.I362F
c.1084A>T
NM_032730.5
p.R388*
c.1162C>T
NM_032730.5
p.M43I
c.129G>A
NM_032730.5
p.Y51C
c.152A>G
NM_032730.5
p.V88G
c.263T>G
NM_032730.5
p.S167F
c.500C>T
NM_032730.5
p.L356P
c.1067T>C