Papers
RefSeq ID
Protein change
DNA change
1–12 of 448 variants
NM_017950.4
p.A83delFs
c.248delC
NM_017950.4
p.A83fs
c.247_248fs
NM_017950.4
p.R472delFs
c.1416delG
NM_017950.4
p.R814*
c.2440C>T
NM_017950.4
p.R321*
c.961C>T
NM_017950.4
p.E904Splc
c.2712-1G>T
NM_017950.4
p.R449*
c.1345C>T
NM_017950.4
p.R301*
c.901C>T
NM_017950.4
p.D1043delFs
c.3129delC
NM_017950.4
p.R942insFs
c.2824_2825ins4
NM_017950.4
p.M1insFs
c.2dupT
NM_017950.4
p.Q439*
c.1315C>T