Papers
RefSeq ID
Protein change
DNA change
1–12 of 142 variants
NM_000700.3
p.A2T
c.4G>A
NM_000700.3
p.S27A
c.79T>G
NM_000700.3
p.Q79delFs
c.235delC
NM_000700.3
p.K257T
c.770A>C
NM_000700.3
p.W12delFs
c.35delG
NM_000700.3
p.E17K
c.49G>A
NM_000700.3
p.N43D
c.127A>G
NM_000700.3
p.R72*
c.214C>T
NM_000700.3
p.E105K
c.313G>A
NM_000700.3
p.E105_E106insFs
c.315_316insA
NM_000700.3
p.D175delFs
c.525delT
NM_000700.3
p.S182A
c.544T>G