Papers
RefSeq ID
Protein change
DNA change
1–12 of 53 variants
NM_024847.4
p.Y709*
c.2127C>A
NM_024847.4
p.Y709*
c.2127C>G
NM_024847.4
p.R59W
c.175C>T
NM_024847.4
p.K100T
c.299A>C
NM_024847.4
p.Q10*
c.28C>T
NM_024847.4
p.G12D
c.35G>A
NM_024847.4
p.R16Q
c.47G>A
NM_024847.4
p.E23fs
c.67_68fs
NM_024847.4
p.P35L
c.104C>T
NM_024847.4
p.P36P
c.108T>C
NM_024847.4
p.L43F
c.129G>C
NM_024847.4
p.L43F
c.129G>T