Papers
RefSeq ID
Protein change
DNA change
1–12 of 33 variants
NM_172377.5
p.E89Q
c.265G>C
NM_172377.5
p.R43K
c.128G>A
NM_172377.5
p.P175T
c.523C>A
NM_172377.5
p.M1I
c.3G>A
NM_172377.5
p.R6Q
c.17G>A
NM_172377.5
p.T12M
c.35C>T
NM_172377.5
p.D16N
c.46G>A
NM_172377.5
p.G19R
c.55G>A
NM_172377.5
p.G28R
c.82G>C
NM_172377.5
p.G55A
c.164G>C
NM_172377.5
p.R57G
c.169A>G
NM_172377.5
p.G59insFs
c.175_176ins14