Papers
RefSeq ID
Protein change
DNA change
1–12 of 23 variants
NM_016245.5
p.V242M
c.724G>A
NM_016245.5
p.H248Y
c.742C>T
NM_016245.5
p.R283Q
c.848G>A
NM_016245.5
p.G49V
c.146G>T
NM_016245.5
p.K70_H71Splc
c.210+2T>A
NM_016245.5
p.L73P
c.218T>C
NM_016245.5
p.A78P
c.232G>C
NM_016245.5
p.A78T
c.232G>A
NM_016245.5
p.K106M
c.317A>T
NM_016245.5
p.I116I
c.348T>C
NM_016245.5
p.V118E
c.353T>A
NM_016245.5
p.E142K
c.424G>A