Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_014058.4
p.R44I
c.131G>T
Surrounding Variants
NM_014058.4
p.N46Splc
c.136+7A>G
NM_014058.4
p.V7insFs
c.20dupT
NM_014058.4
p.S73F
c.218C>T
NM_014058.4
p.N75I
c.224A>T
NM_014058.4
p.L96*
c.287T>A
NM_014058.4
p.L96*
c.287T>G
NM_014058.4
p.E144K
c.430G>A
NM_014058.4
p.H158Q
c.474C>A
NM_014058.4
p.H158Q
c.474C>G