Papers
RefSeq ID
Protein change
DNA change
1–12 of 82 variants
NM_006601.7
p.M1delFs
c.1_2delAT
NM_006601.7
p.K7R
c.20A>G
NM_006601.7
p.E18K
c.52G>A
NM_006601.7
p.N62_D63Splc
c.187-1G>A
NM_006601.7
p.Q2*
c.4C>T
NM_006601.7
p.S39Splc
c.117-1G>C
NM_006601.7
p.L55I
c.163C>A
NM_006601.7
p.N62_D63Splc
c.187-2A>G
NM_006601.7
p.R68*
c.202A>T
NM_006601.7
p.R88K
c.263G>A
NM_006601.7
p.R122C
c.364C>T
NM_006601.7
p.M1V
c.1A>G