Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_030796.5
p.Q4Q
c.12G>A
NM_030796.5
p.P5P
c.15T>A
NM_030796.5
p.A9V
c.26C>T
NM_030796.5
p.G14W
c.40G>T
NM_030796.5
p.E18_C19Splc
c.54+10088C>T
NM_030796.5
p.E18_C19Splc
c.54+20706T>C
NM_030796.5
p.F29Y
c.86T>A
NM_030796.5
p.L32fs
c.94_95fs
NM_030796.5
p.I38Splc
c.114-2A>G
NM_030796.5
p.S56S
c.168C>G
NM_030796.5
p.L60fs
c.178_179fs
NM_030796.5
p.M69I
c.207G>T