Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_152665.3
p.L143I
c.427C>A
NM_152665.3
p.E49D
c.147A>C
NM_152665.3
p.E49D
c.147A>T
NM_152665.3
p.E112_V113Splc
c.336+1G>A
NM_152665.3
p.M3R
c.8T>G
NM_152665.3
p.R31Q
c.92G>A
NM_152665.3
p.V79F
c.235G>T
NM_152665.3
p.D87G
c.260A>G
NM_152665.3
p.V88A
c.263T>C
NM_152665.3
p.R125W
c.373C>T
NM_152665.3
p.H133N
c.397C>A
NM_152665.3
p.F157insFs
c.469dupT