Papers
RefSeq ID
Protein change
DNA change
1–12 of 205 variants
NM_000578.4
p.D543N
c.1627G>A
NM_000578.4
p.L92F
c.274C>T
NM_000578.4
p.G103D
c.308G>A
NM_000578.4
p.A318V
c.953C>T
NM_000578.4
p.F66F
c.198C>T
NM_000578.4
p.V443A
c.1328T>C
NM_000578.4
p.R273C
c.817C>T
NM_000578.4
p.A288D
c.863C>A
NM_000578.4
p.R273R
c.819C>T
NM_000578.4
p.Q8R
c.23A>G
NM_000578.4
p.P50_G51Splc
c.150+21T>C
NM_000578.4
p.L67I
c.199C>A