Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_031282.3
p.R60Q
c.179G>A
NM_031282.3
p.R283Splc
c.847+1G>A
NM_031282.3
p.A389T
c.1165G>A
NM_031282.3
p.A390P
c.1168G>C
NM_031282.3
p.R413W
c.1237C>T
NM_031282.3
p.G417R
c.1249G>C
NM_031282.3
p.G417R
c.1249G>A
NM_031282.3
p.M1_L2insFs
c.3_4insA
NM_031282.3
p.A5A
c.15G>A
NM_031282.3
p.A9V
c.26C>T
NM_031282.3
p.P12S
c.34C>T
NM_031282.3
p.W31*
c.92G>A