Papers
RefSeq ID
Protein change
DNA change
1–12 of 89 variants
NM_025152.3
p.G56R
c.166G>A
NM_025152.3
p.G272Splc
c.815-27T>C
NM_025152.3
p.G56R
c.166G>C
NM_025152.3
p.L104P
c.311T>C
NM_025152.3
p.V182A
c.545T>C
NM_025152.3
p.D105Y
c.313G>T
NM_025152.3
p.L193F
c.579A>C
NM_025152.3
p.L193F
c.579A>T
NM_025152.3
p.F242L
c.724T>C
NM_025152.3
p.F242L
c.726C>A
NM_025152.3
p.F242L
c.726C>G
NM_025152.3
p.D96V
c.287A>T