Papers
RefSeq ID
Protein change
DNA change
1–12 of 93 variants
NM_006716.4
p.M6I
c.18G>A
NM_006716.4
p.L32Q
c.95T>A
NM_006716.4
p.L55I
c.163T>A
NM_006716.4
p.S122R
c.364A>C
NM_006716.4
p.S122R
c.366C>A
NM_006716.4
p.S122R
c.366C>G
NM_006716.4
p.S164*
c.491C>A
NM_006716.4
p.S164*
c.491C>G
NM_006716.4
p.P415S
c.1243C>T
NM_006716.4
p.K516insFs
c.1546_1547insC
NM_006716.4
p.H575R
c.1724A>G
NM_006716.4
p.K579E
c.1735A>G