Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_144695.4
p.R40fs
c.118_119fs
NM_144695.4
p.R40delFs
c.119delG
NM_144695.4
p.R198*
c.592C>T
NM_144695.4
p.C408S
c.1222T>A
NM_144695.4
p.C408S
c.1223G>C
NM_144695.4
p.M1K
c.2T>A
NM_144695.4
p.T13K
c.38C>A
NM_144695.4
p.V16G
c.47T>G
NM_144695.4
p.R42*
c.124C>T
NM_144695.4
p.R42L
c.125G>T
NM_144695.4
p.M56T
c.167T>C
NM_144695.4
p.S66P
c.196T>C