Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_013363.4
p.V280A
c.839T>C
NM_013363.4
p.P292T
c.874C>A
NM_013363.4
p.A16A
c.48C>T
NM_013363.4
p.R28Splc
c.83+1G>A
NM_013363.4
p.V30D
c.89T>A
NM_013363.4
p.C59S
c.175T>A
NM_013363.4
p.P66H
c.197C>A
NM_013363.4
p.R102C
c.304C>T
NM_013363.4
p.R111Q
c.332G>A
NM_013363.4
p.M140I
c.420G>A
NM_013363.4
p.G150Splc
c.448+701G>C
NM_013363.4
p.P161L
c.482C>T