Papers
RefSeq ID
Protein change
DNA change
1–12 of 245 variants
NM_000686.5
p.G21V
c.62G>T
NM_000686.5
p.R324Q
c.971G>A
NM_000686.5
p.I132delFs
c.395delT
NM_000686.5
p.I337V
c.1009A>G
NM_000686.5
p.P301S
c.901C>T
NM_000686.5
p.Y231H
c.691T>C
NM_000686.5
p.R248K
c.743G>A
NM_000686.5
p.P271L
c.812C>T
NM_000686.5
p.I53F
c.157A>T
NM_000686.5
p.K73N
c.219G>T
NM_000686.5
p.F134fs
c.400_401fs
NM_000686.5
p.R182*
c.544C>T