Papers
RefSeq ID
Protein change
DNA change
1–12 of 319 variants
NM_000307.5
p.T211M
c.632C>T
NM_000307.5
p.L208*
c.623T>A
NM_000307.5
p.Q229R
c.686A>G
NM_000307.5
p.R323G
c.967C>G
NM_000307.5
p.R329P
c.986G>C
NM_000307.5
p.A312V
c.935C>T
NM_000307.5
p.Q79delFs
c.235delC
NM_000307.5
p.S228L
c.683C>T
NM_000307.5
p.S310del1
c.928_929delTCG
NM_000307.5
p.R329G
c.985C>G
NM_000307.5
p.G216E
c.647G>A
NM_000307.5
p.L317insFs
c.950dupT