Papers
RefSeq ID
Protein change
DNA change
1–12 of 191 variants
NM_000799.4
p.W11delFs
c.32delG
NM_000799.4
p.P7delFs
c.19delC
NM_000799.4
p.A46T
c.136G>A
NM_000799.4
p.D70N
c.208G>A
NM_000799.4
p.R103Q
c.308G>A
NM_000799.4
p.M1I
c.3G>A
NM_000799.4
p.P7fs
c.19_20fs
NM_000799.4
p.G84R
c.250G>A
NM_000799.4
p.G84R
c.250G>C
NM_000799.4
p.R177Q
c.530G>A
NM_000799.4
p.R193delFs
c.577delA
NM_000799.4
p.M1I
c.3G>C