Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_014972.3
p.K131insFs
c.393dupA
NM_014972.3
p.K128fs
c.382_383fs
NM_014972.3
p.A408G
c.1223C>G
NM_014972.3
p.Q432H
c.1296G>C
NM_014972.3
p.Q432H
c.1296G>T
NM_014972.3
p.R544Q
c.1631G>A
NM_014972.3
p.E563D
c.1689G>C
NM_014972.3
p.E563D
c.1689G>T
NM_014972.3
p.A5T
c.13G>A
NM_014972.3
p.L6H
c.17T>A
NM_014972.3
p.R7delins
c.21delinsCGTCTCA
NM_014972.3
p.E12G
c.35A>G