Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_173518.5
p.A69fs
c.205_206fs
NM_173518.5
p.Q229*
c.685C>T
NM_173518.5
p.R599*
c.1795C>T
NM_173518.5
p.D32Y
c.94G>T
NM_173518.5
p.T94M
c.281C>T
NM_173518.5
p.L322V
c.964C>G
NM_173518.5
p.R369H
c.1106G>A
NM_173518.5
p.V454F
c.1360G>T
NM_173518.5
p.Q455*
c.1363C>T
NM_173518.5
p.C456*
c.1368C>A
NM_173518.5
p.A530V
c.1589C>T
NM_173518.5
p.Y589*
c.1767T>A