Papers
RefSeq ID
Protein change
DNA change
1–12 of 131 variants
NM_000898.5
p.G215D
c.644G>A
NM_000898.5
p.P487L
c.1460C>T
NM_000898.5
p.S131I
c.392G>T
NM_000898.5
p.T174I
c.521C>T
NM_000898.5
p.T327M
c.980C>T
NM_000898.5
p.E379_P380Splc
c.1138-1G>A
NM_000898.5
p.P63L
c.188C>T
NM_000898.5
p.P109L
c.326C>T
NM_000898.5
p.I110T
c.329T>C
NM_000898.5
p.D124Y
c.370G>T
NM_000898.5
p.M146L
c.436A>T
NM_000898.5
p.M146L
c.436A>C