Papers
RefSeq ID
Protein change
DNA change
1–12 of 230 variants
NM_007348.4
p.R324C
c.970C>T
NM_007348.4
p.Y567N
c.1699T>A
NM_007348.4
p.M67V
c.199A>G
NM_007348.4
p.D28Splc
c.82+5G>T
NM_007348.4
p.R317*
c.949C>T
NM_007348.4
p.S396Splc
c.1187+5G>C
NM_007348.4
p.Q511_G512Splc
c.1533+1G>C
NM_007348.4
p.D564G
c.1691A>G
NM_007348.4
p.P118delFs
c.353delC
NM_007348.4
p.P157S
c.469C>T
NM_007348.4
p.I171delFs
c.511delA
NM_007348.4
p.P266insFs
c.797dupC